Pompe disease GAA variant database
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Link to variant Link to patients Location DNA nomenclature RNA nomenclature Protein nomenclature Predicted severity Phenotype with null allele CRIM status Number of patients
Variant info Patients:1 GAA and part of CCDC40 Ch37/hg19:g.78,056,048_ 78,094,854delins14bp r.(-212_*551del) p.(0) Very severe Classic infantile Negative 1
Variant info Patients:1 CCDC40 and GAA exon 1 Ch37/hg19 chr17:78,059,821_ 78,076,592del r.0 p.? very severe Classic infantile Unknown 1
Variant info Patients:0 exon 1A, 5' UTR c.-338C>G r.(-338c>g) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 1A, 5' UTR c.-260G>C r.(-260g>c) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 1A, 5' UTR c.-178G>A r.(-178g>a) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:3 intron 1A c.-113+2T>C r.spl p.? Very severe Unknown (disease-associated) Unknown 3
Variant info Patients:0 exon 1B, 5' UTR c.-82G>C r.(-82g>c) p.? Unknown Unknown Positive 0
Variant info Patients:0 exon 1B, 5' UTR c.-75C>G r.(-75c>g) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+219G>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+316C>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+317C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+671A>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+757G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+903A>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+1104A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+1172G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+1190G>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+1309T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-1298G>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-1124C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-884T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-793C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-721G>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-686A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-640C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-521G>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-494C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-462G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 1B c.-32-17_-32-10delins(30) r.? p.? very severe Classic infantile Unknown 1
Variant info Patients:733 intron 1B c.-32-13T>G r.[=,-32_546del,-32_486del] p.[=,0] Potentially mild Childhood or Adult Positive 733
Variant info Patients:2 intron 1B c.-32-3C>G r.(=) p.? Less severe Unknown (disease-associated) Unknown 2
Variant info Patients:14 intron 1B c.-32-3C>A r.(=) p.? Less severe Childhood Unknown 14
Variant info Patients:3 intron 1B c.-32-2A>G r.spl p.? Very severe Childhood or Adult Unknown 3
Variant info Patients:1 intron 1B c.-32-1G>C r.spl p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 exon 2 c.1A>T r.(1a>u) p.(0) Potentially less severe Unknown Negative 0
Variant info Patients:6 exon 2 c.1A>G r.(1a>g) p.(0) Very severe Classic infantile or Childhood Negative 6
Variant info Patients:2 exon 2 c.2T>C r.(2u>c) p.(0) Potentially less severe Childhood Negative 2
Variant info Patients:1 exon 2 c.3G>A r.(3g>a) p.(0) Very severe Classic infantile or Childhood Negative 1
Variant info Patients:1 exon 2 c.18_25del r.(18_25del) p.(Cys8Profs*24) Very severe Classic infantile Negative 1
Variant info Patients:1 exon 2 c.25del r.(25del) p.(Ser9Profs*34) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 2 c.40_47del r.(40_47del) p.(Ala14Argfs*18) very severe Classic infantile Negative 1
Variant info Patients:0 exon 2 c.32G>A r.(32g>a) p.(Arg11Gln) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 2 c.54C>T r.(54c>u) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 2 c.104T>C r.(104u>c) p.(Phe35Ser) Potentially less severe Classic infantile Positive 1
Variant info Patients:18 exon 2 c.118C>T r.(118c>u) p.(Arg40*) Very severe Classic infantile Negative 18
Variant info Patients:1 exon 2 c.136T>C r.(136u>c) p.(Ser46Pro) Non-pathogenic Classic infantile Positive 1
Variant info Patients:3 exon 2 c.147_859-12del r.spl p.? Very severe Classic infantile Negative 3
Variant info Patients:1 exon 2 c.169C>T r.(169c>u) p.(Gln57*) very severe Classic infantile Negative 1
Variant info Patients:3 exon 2 c.172C>T r.(172c>u) p.(Gln58*) Very severe Classic infantile Negative 3
Variant info Patients:0 exon 2 c.186_196dup r.(186_196dup) p.(Arg66Hisfs*80) Very severe Unknown Negative 0
Variant info Patients:1 exon 2 c.205C>T r.(205c>u) p.(Gln69*) very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 2 c.199G>A r.(199g>a) p.(Asp67Asn) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 2 c.221G>A r.(221g>a) p.(Arg74His) Non-pathogenic Unknown Positive 0
Variant info Patients:13 exon 2 c.236_246del r.(236_246del) p.(Pro79Argfs*13) Very severe Classic infantile Negative 13
Variant info Patients:3 exon 2 c.241C>T r.(241c>u) p.(Gln81*) Very severe Unknown (disease-associated) Negative 3
Variant info Patients:4 exon 2 c.258dup r.(258dup) p.(Asn87Glnfs*9) Very severe Unknown (disease-associated) Negative 4
Variant info Patients:0 exon 2 c.258C>A r.(258c>a) p.? Unknown Unknown (disease-associated) Positive 0
Variant info Patients:0 exon 2 c.265C>T r.(265c>u) p.(Arg89Cys) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:2 exon 2 c.266G>A r.(266g>a) p.(Arg89His) Presumably non-pathogenic Classic infantile Positive 2
Variant info Patients:2 exon 2 c.271G>A r.271g>a p.(Asp91Asn) Presumably non-pathogenic Unknown (disease-associated) Positive 2
Variant info Patients:3 exon 2 c.271del r.(271del) p.(Asp91Ilefs*51) Very severe Unknown (disease-associated) Negative 3
Variant info Patients:1 exon 2 c.295_314del r.(295_314del) p.(Thr99Profs*40) very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 2 c.307T>C r.(307u>c) p.(Cys103Arg) Potentially less severe Unknown Positive 0
Variant info Patients:19 exon 2 c.307T>G r.(307u>g) p.(Cys103Gly) Potentially less severe Classic infantile Positive 19
Variant info Patients: exon 2 c.309C>G r.(309c>g) p.(Cys103Trp) Potentially less severe Unknown Positive
Variant info Patients:1 exon 2 c.309C>A r.(309c>a) p.(Cys103*) Very severe Classic infantile Negative 1
Variant info Patients:1 exon 2 c.317G>A r.(317g>a) p.(Arg106His) potentially less severe Unknown (found only in NBS) Positive 1
Variant info Patients:0 exon 2 c.322T>G r.(322u>g) p.(Cys108Gly) Potentially less severe Unknown Unknown 0
Variant info Patients:2 exon 2 c.323G>A r.(323g>a) p.(Cys108Ser) Unknown Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 2 c.323G>C r.(323g>c) p.(Cys108Ser) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 2 c.324T>C r.324u>c p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:2 exon 2 c.340_341insT r.(340_341insu) p.(Lys114Ilefs*32) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 2 c.343C>T r.(343c>u) p.(Gln115*) Very severe Childhood or Adult Negative 2
Variant info Patients:1 exon 2 c.352C>T r.(352c>u) p.(Gln118*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 2 c.363G>A r.(363g>a) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:4 exon 2 c.364A>G r.(364a>g) p.(Met122Val) Less severe Unknown (disease-associated) Unknown 4
Variant info Patients:0 exon 2 c.365del r.(365del) p.(Met122Argfs*20) very severe Unknown (disease-associated) Negative 0
Variant info Patients:1 exon 2 c.365T>A r.(365u>a) p.(Met122Lys) unknown Unknown (found only in NBS) Positive 1
Variant info Patients:9 exon 2 c.377G>A r.(377g>a) p.(Trp126*) Very severe Classic infantile Negative 9
Variant info Patients:1 exon 2 c.378G>A r.(378g>a) p.(Trp126*) Very severe Classic infantile Negative 1
Variant info Patients:11 exon 2 c.379_380del r.(379_380del) p.(Cys127Leufs*18) Very severe Classic infantile Negative 11
Variant info Patients:1 exon 2 c.380G>A r.(380g>a) p.(Cys127Tyr) Potentially less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 2 c.380G>T r.(380g>u) p.(Cys127Phe) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 2 c.397T>G r.(397u>g) p.(Tyr133Asp) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 2 c.399C>A r.(399c>a) p.(Tyr133*) Very severe Classic infantile Negative 1
Variant info Patients:1 exon 2 c.421C>A r.(421c>a) p.(Leu141Met) Potentially less severe Classic infantile Positive 1
Variant info Patients:3 exon 2 c.424_440del r.(424_440del) p.(Ser142Lleufs*29) Very severe Unknown (found only in NBS) Negative 3
Variant info Patients:2 exon 2 c.437del r.(437del) p.(Met146Argfs*7) very severe Classic infantile Negative 2
Variant info Patients:1 exon 2 c.444C>G r.(444c>g) p.(Tyr148*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 2 c.445A>C r.(445a>c) p.(Thr149Pro) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 2 c.447G>A r.(447g>a) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:2 exon 2 c.460_465del r.(460_465del) p.(Arg154_Thr155del) Unknown Classic infantile Positive 2
Variant info Patients:1 exon 2 c.461G>C r.(461g>c) p.(Arg154Pro) Less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 2 c.461_469del r.(461_469del) p.(Arg154_Thr156del) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:5 exon 2 c.482_483del r.(482_483del) p.(Pro161Glnfs*15) Very severe Unknown (disease-associated) Negative 5
Variant info Patients:2 exon 2 c.483dup r.(483dup) p.(Lys162Glnfs*15) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 2 c.484A>C r.(484a>c) p.(Lys162Gln) Potentially less severe Classic infantile Unknown 2
Variant info Patients:1 exon 2 c.502C>T r.(502c>u) p.(Arg168Trp) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:3 exon 2 c.503G>A r.(503g>a) p.(Arg168Gln) Unknown Childhood Unknown 3
Variant info Patients:2 exon 2 c.503G>C r.(503g>c) p.(Arg168Pro) Unknown Childhood Positive 2
Variant info Patients:1 exon 2 c.505C>A r.(505c>a) p.(Leu169Met) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 2 c.506T>C r.(506u>c) p.(Leu169Pro) Unknown Classic infantile Positive 1
Variant info Patients:0 exon 2 c.510C>T r.(510c>u) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients: exon 2 c.517_519del r.(517_519del) p.(Met173del) Potentially less severe Childhood Positive
Variant info Patients:154 exon 2 c.525del r.(525del) p.(Glu176Argfs*45) Very severe Classic infantile Negative 154
Variant info Patients:4 exon 2 c.525_526del r.(525_526del) p.(Asn177Profs*11) Very severe Classic infantile Negative 4
Variant info Patients:0 exon 2 c.532C>T r.(532c>u) p.(Arg178Cys) Non-pathogenic Unknown Positive 0
Variant info Patients:2 exon 2 c.533G>A r.(533g>a) p.(Arg178His) Unknown Unknown (found only in NBS) Positive 2
Variant info Patients:0 exon 2 c.541_545del r.(541_545del) p.(Phe181Aspfs*6) very severe Classic infantile Unknown 0
Variant info Patients:3 exon 2 c.546G>A r.[(546g>a), r.(spl?)] p.[(=), p.?] Potentially mild Adult Unknown 3
Variant info Patients:21 exon 2 c.546G>T r.[-32_546del,546g>u,546g>u; 546_547ins546+1_546+184] p.[=,0, Ile183Valfs*67] Potentially mild Childhood or Adult Unknown 21
Variant info Patients:2 exon 2 c.546G>C r.[(546g>c), r.(spl?)] p.[(=), p.?] Potentially mild Unknown (disease-associated) Unknown 2
Variant info Patients:3 intron 2 c.546+1G>T r.spl p.? Very severe Unknown (disease-associated) Unknown 3
Variant info Patients:1 intron 2 c.546+2T>C r.spl p.? Very severe Classic infantile Negative 1
Variant info Patients:5 intron 2 c.546+2_546+5del r.spl p.? Very severe Classic infantile Negative 5
Variant info Patients:2 intron 2 c.546+5G>T r.(spl?) p.? Unknown Unknown (found only in NBS) Unknown 2
Variant info Patients:0 intron 2 c.546+24G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.546+45G>C r.(=) p.? Unknown Unknown Positive 0
Variant info Patients:0 intron 2 c.546+293G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-243C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-238T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-67C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-39T>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-4C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 2 c.547-1G>C r.spl p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 exon 3 c.568C>T r.(568c>u) p.(Arg190Cys) potentially less severe Unknown (disease-associated) Unknown 0
Variant info Patients:6 exon 3 c.569G>A r.(569g>a) p.(Arg190His) Less severe Childhood Positive 6
Variant info Patients:1 exon 3 c.572A>G r.(572a>g) p.(Tyr191Cys) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:7 exon 3 c.573C>A r.(573c>a) p.(Tyr191*) Very severe Classic infantile Negative 7
Variant info Patients:0 exon 3 c.596A>G r.(596a>g) p.(His199Arg) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 3 c.623T>C r.(623u>c) p.(Leu208Pro) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 3 c.634G>T r.(634g>u) p.(Glu212*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 3 c.642C>T r.642c>u p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 3 c.650C>T r.(650c>u) p.(Pro217Leu) Less severe Classic infantile Positive 1
Variant info Patients:22 exon 3 c.655G>A r.(655g>a) p.(Gly219Arg) Potentially less severe Classic infantile Positive 22
Variant info Patients:0 exon 3 c.658G>T r.(658g>u) p.(Val220Leu) Non-pathogenic Unknown Positive 0
Variant info Patients:16 exon 3 c.664G>A r.(664g>a) p.(Val222Met) Non-pathogenic Unknown Positive 16
Variant info Patients:0 exon 3 c.665T>G r.(665u>g) p.(Val222Gly) potentially less severe Classic infantile Positive 0
Variant info Patients:0 exon 3 c.668G>A r.668g>a p.(Arg223His) Non-pathogenic Unknown Positive 0
Variant info Patients:7 exon 3 c.670C>T r.(670c>u) p.(Arg224Trp) Less severe Classic infantile or Childhood Positive 7
Variant info Patients:2 exon 3 c.671G>C r.(671g>c) p.(Arg224Pro) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 3 c.671G>A r.(671g>a) p.(Arg224Gln) Potentially less severe Adult Positive 1
Variant info Patients:2 exon 3 c.685_686insCGGC r.(685_686inscggc) p.(Arg229Profs*102) Very severe Classic infantile Negative 2
Variant info Patients:1 exon 3 c.686G>C r.(686g>c) p.(Arg229Pro) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 3 c.692T>C r.(692u>c) p.(Leu231Pro) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:2 intron 3 c.692+1G>C r.spl p.? Very severe Unknown (disease-associated) Unknown 2
Variant info Patients:1 intron 3 c.692+1G>T r.spl p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 intron 3 c.692+1G>A r.spl p.? Very severe Classic infantile Unknown 1
Variant info Patients:3 intron 3 c.692+5G>T r.(spl?) p.? Less severe Childhood or adult Unknown 3
Variant info Patients:0 exon 3 c.691C>T r.(691c>u) p.(Arg190Cys) very severe Unknown (disease-associated) Unknown 0
Variant info Patients:0 intron 3 c.692+38C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.692+144A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.692+509T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.692+674G>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.692+751T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-586G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-585T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-559C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-491G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-441C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-434C>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-414C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-413A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-216T>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-94C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-78C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-49C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-2A>C r.spl p.? very severe Classic infantile Unknown 0
Variant info Patients:1 intron 3 c.693-1G>C r.spl p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 exon 4 c.701C>G r.(701c>g) p.(Thr234Arg) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 4 c.701C>A r.(701c>a) p.(Thr234Lys) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:2 exon 4 c.705G>A r.(705g>a) p.(=) Unknown Unknown (found only in NBS) Positive 2
Variant info Patients:2 exon 4 c.710C>T r.(710c>u) p.(Ala237Val) Unknown Adult Positive 2
Variant info Patients:1 exon 4 c.715_716del r.(715_716del) p.(Leu239Valfs*90) very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 4 c.716del r.(716del) p.(Leu239Argfs*29) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 4 c.719T>C r.(719u>c) p.(Phe240Ser) Unknown Adult Positive 2
Variant info Patients:6 exon 4 c.722_723del r.(722_723del) p.(Phe241Cysfs*88) Very severe Classic infantile Negative 6
Variant info Patients:0 exon 4 c.725C>T r.(725c>u) p.(Ala242Val) Potentially mild Unknown Positive 0
Variant info Patients:1 exon 4 c.730C>T r.(730c>u) p.(Gln244*) very severe Classic infantile Unknown 1
Variant info Patients:1 exon 4 c.736del r.(736del) p.(Leu246Phefs*22) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 4 c.737T>G r.(737u>g) p.(Leu246Arg) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:3 exon 4 c.742del r.(742del) p.(Leu248Profs*20) Very severe Classic infantile Negative 3
Variant info Patients:2 exon 4 c.743T>G r.(743u>g) p.(Leu248Arg) Unknown Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 4 c.743T>C r.(743u>c) p.(Leu248Pro) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:26 exon 4 c.[752C>T; c.761C>T] r.[(752c>u); (761c>u)] p.[(Ser251Leu); (Ser254Leu)] Presumably non-pathogenic Unknown (disease-associated) Positive 26
Variant info Patients:1 exon 4 c.756_757insT r.(756_757insu) p.(Pro253Serfs*77) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 4 c.759del r.(759del) p.(Ser254Argfs*14) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 4 c.763C>T r.(763c>u) p.(Gln255*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 4 c.766_784del r.(766_784del) p.(Tyr256Serfs*6) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:4 exon 4 c.766_785delinsC r.(766_785delinsc) p.(Tyr256Argfs*6) Very severe Unknown (disease-associated) Negative 4
Variant info Patients:0 exon 4 c.768dup r.(768dup) p.(Ile257Tyrfs*73) Very severe Unknown Negative 0
Variant info Patients:0 exon 4 c.776G>T r.(776g>u) p.(Gly259Val) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 4 c.781G>A r.(781g>a) p.(Ala261Thr) potentially less severe Classic infantile Positive 1
Variant info Patients:22 exon 4 c.784G>A r.(784g>a) p.(Glu262Lys) Potentially less severe Classic infantile Positive 22
Variant info Patients:1 exon 4 c.784G>C r.(784g>c) p.(Glu262Gln) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:3 exon 4 c.794del r.(794del) p.(Ser265Ilefs*3) Very severe Classic infantile Negative 3
Variant info Patients:10 exon 4 c.796C>T r.(796c>u) p.(Pro266Ser) Potentially mild Classic infantile Positive 10
Variant info Patients:1 exon 4 c.796C>A r.(796c>a) p.(Pro266Thr) Potentially less severe Childhood Unknown 1
Variant info Patients:1 exon 4 c.799_803delinsA r.(799_803delinsa) p.(Leu267Serfs*46) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 4 c.811A>G r.(811a>g) p.(Thr271Ala) Non-pathogenic Unknown (found only in NBS) Positive 1
Variant info Patients:1 exon 4 c.827_845del r.(827_845del) p.(Ile276Thrfs*32) Very severe Classic infantile Negative 1
Variant info Patients:1 exon 4 c.829_851del r.(829_851del) p.(Thr277Alafs*45) Very severe Classic infantile Negative 1
Variant info Patients:2 exon 4 c.836G>A r.(836g>a) p.(Trp279*) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:1 exon 4 c.837G>C r.(837g>c) p.(Trp279Cys) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 4 c.841C>T r.(841c>u) p.(Arg281Trp) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 4 c.844G>C r.(844g>c) p.(Asp282His) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 4 c.852G>A r.(852g>a) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:3 exon 4 c.853C>T r.(853c>u) p.(Pro285Ser) Less severe Childhood or Adult Positive 3
Variant info Patients:2 exon 4 c.854C>G r.(854c>g) p.(Pro285Arg) Potentially mild Childhood Positive 2
Variant info Patients:1 intron 4 c.858+2T>A r.spl p.? Very severe Classic infantile or Childhood Negative 1
Variant info Patients:0 intron 4 c.858+5_858+6ins7 r.(spl?) p.? Unknown Unknown Positive 0
Variant info Patients:0 intron 4 c.858+6G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 4 c.858+17_858+23del r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 4 c.858+20dup r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 4 c.858+21C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 4 c.858+17_858+23dup r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 4 c.858+30T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 4 c.858+37C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 4 c.859-2A>T r.spl p.? Very severe Classic infantile Unknown 2
Variant info Patients:1 exon 5 c.861C>T r.(861c>u) p.(=) Potentially less severe Childhood Positive 1
Variant info Patients:0 exon 5 c.868A>G r.(868a>g) p.(Asn290Asp) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 5 c.871C>T r.(871c>u) p.(Leu291Phe) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 5 c.872T>A r.(872u>a) p.(Leu291His) Less severe Unknown Positive 0
Variant info Patients:3 exon 5 c.872T>C r.(872u>c) p.(Leu291Pro) Potentially less severe Classic infantile Positive 3
Variant info Patients:6 exon 5 c.875A>G r.(875a>g) p.(Tyr292Cys) Potentially mild Classic infantile Positive 6
Variant info Patients:2 exon 5 c.876C>G r.(876c>g) p.(Tyr292*) very severe Classic infantile Negative 2
Variant info Patients:14 exon 5 c.877G>A r.(877g>a) p.(Gly293Arg) Potentially less severe Classic infantile Positive 14
Variant info Patients:2 exon 5 c.878G>T r.(878g>u) p.(Gly293Val) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:0 exon 5 c.883C>A r.(883c>a) p.(His295Asn) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 5 c.885C>G r.(885c>g) p.(His295Gln) Potentially mild Adult Unknown 1
Variant info Patients:1 exon 5 c.893A>C r.(893a>c) p.(Tyr298Ser) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 5 c.896T>G r.(896u>g) p.(Leu299Arg) Potentially less severe Classic infantile Positive 1
Variant info Patients:11 exon 5 c.896T>C r.(896u>c) p.(Leu299Pro) Potentially less severe Classic infantile Positive 11
Variant info Patients:2 exon 5 c.915G>A r.(915g>a) p.(=) Non-pathogenic Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 5 c.917C>T r.(917c>u) p.(Ser306Leu) Presumably non-pathogenic Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 5 c.921A>T r.921a>u p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:3 exon 5 c.923A>C r.(923a>c) p.(His308Pro) Potentially less severe Classic infantile Positive 3
Variant info Patients:2 exon 5 c.923A>T r.(923a>u) p.(His308Leu) Less severe Unknown (disease-associated) Positive 2
Variant info Patients:27 exon 5 c.925G>A r.(925g>a) p.(Gly309Arg) Potentially less severe Classic infantile Positive 27
Variant info Patients:0 exon 5 c.929T>G r.(929u>g) p.(Val310Gly) Less severe Unknown Positive 0
Variant info Patients:1 exon 5 c.930_932del r.(930_932del) p.(Phe311del) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 5 c.935T>G r.(935u>g) p.(Leu312Arg) Potentially less severe Classic infantile Positive 1
Variant info Patients: exon 5 c.942C>A r.(942c>a) p.Asn314Lys Potentially less severe Unknown (disease-associated) Positive
Variant info Patients:0 exon 5 c.947A>T r.(947a>u) p.(Asn316Ile) Potentially less severe Unknown Positive 0
Variant info Patients:0 exon 5 c.947A>G r.(947a>g) p.(Asn316Ser) potentially less severe Classic infantile Positive 0
Variant info Patients:1 exon 5 c.950C>T r.(950c>u) p.(Ala317Val) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:4 exon 5 c.953T>C r.(953u>c) p.(Met318Thr) Potentially less severe Classic infantile Positive 4
Variant info Patients:1 exon 5 c.953T>A r.(953u>a) p.(Met318Lys) Potentially less severe Childhood Positive 1
Variant info Patients:1 exon 5 c.955_955+1ins21 r.[(955_956ins21), (spl?)] p.? Unknown Unknown (disease-associated) Unknown 1
Variant info Patients:2 intron 5 c.955+1G>A r.spl p.? very severe Classic infantile Unknown 2
Variant info Patients:0 intron 5 c.955+155C>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 5 c.955+167C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 5 c.956-107G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 5 c.955+2T>G r.spl p.? Very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 intron 5 c.955+12G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 5 c.956-84C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 6 c.971C>T r.(971c>u) p.(Pro324Leu) Less severe Childhood Positive 1
Variant info Patients:1 exon 6 c.971dup r.(971dup) p.(Pro324Argfs*68) very severe Classic infantile Negative 1
Variant info Patients:0 exon 6 c.982_988del r.(982_988del) p.(Leu328Glyfs*62) very severe Classic infantile Unknown 0
Variant info Patients:1 exon 6 c.983T>C r.(983u>c) p.(Leu328Pro) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 6 c.988T>G r.(988u>g) p.(Trp330Gly) Potentially less severe Classic infantile Positive 1
Variant info Patients:4 exon 6 c.989G>A r.(989g>a) p.(Trp330*) Very severe Unknown (disease-associated) Negative 4
Variant info Patients:1 exon 6 c.994_995insTT r.(994_995insuu) p.(Ser332Phefs*61) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 6 c.998C>A r.(998c>a) p.(Thr333Lys) Unknown Classic infantile Positive 1
Variant info Patients:1 exon 6 c.1000G>A r.(1000g>a) p.(Gly334Ser) Unknown Childhood Positive 1
Variant info Patients:0 exon 6 c.1000G>T r.(1000g>u) p.(Gly334Ser) potentially less severe Classic infantile Unknown 0
Variant info Patients:7 exon 6 c.1003G>A r.(1003g>a) p.(Gly335Arg) Potentially less severe Classic infantile Positive 7
Variant info Patients:2 exon 6 c.1004G>A  r.(1004g>a ) p.(Gly335Glu) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 6 c.1004_1005dup r.(1004_1005dup) p.(Ile336Glyfs*57) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 6 c.1040C>G r.(1040c>g) p.(Pro347Arg) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:6 exon 6 c.1047del r.(1047del) p.(Ser349Argfs*43) very severe Unknown (disease-associated) Negative 6
Variant info Patients:2 exon 6 c.1048G>A r.(1048g>a) p.(Val350Met) Unknown Unknown (disease-associated) Positive 2
Variant info Patients:5 exon 6 c.1051del r.(1051del) p.(Val351Cysfs*41) Very severe Unknown (disease-associated) Negative 5
Variant info Patients:1 exon 6 c.1054C>T r.(1054c>u) p.(Gln352*) very severe Unknown (found only in NBS) Negative 1
Variant info Patients:2 exon 6 c.1057C>T r.(1057c>u) p.(Gln353*) very severe Unknown (disease-associated) Negative 2
Variant info Patients:1 exon 6 c.1057del r.(1057del) p.(Gln353Serfs*39) very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 6 c.1062C>G r.(1062c>g) p.(Tyr354*) Very severe Classic infantile Negative 2
Variant info Patients:19 exon 6 c.1064T>C r.(1064u>c) p.(Leu355Pro) Potentially less severe Classic infantile or Childhood Positive 19
Variant info Patients:1 exon 6 c.1075G>A r.[1075g>a, 1072_1075del] p.[(Gly359Arg), (Val358Aspfs*33)] Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:3 exon 6 c.1075G>T r.[(1075g>u), r.(spl?)] p.[(Ily359*), p.?] Very severe Classic infantile Negative 3
Variant info Patients:0 intron 6 c.1075+13C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:10 intron 6 c.1076-22T>G r.(spl?) p.? Potentially mild Childhood Unknown 10
Variant info Patients:1 intron 6 c.1076-1G>A r.spl p.? Very severe Unknown (disease-associated) Unknown 1
Variant info Patients:8 intron 6 c.1076-1G>C r.spl p.? Very severe Classic infantile Unknown 8
Variant info Patients:1 exon 7 c.1080C>G r.(1080c>g) p.(Tyr360*) Very severe Unknown (found only in NBS) Negative 1
Variant info Patients:12 exon 7 c.1082C>T r.(1082c>u) p.(Pro361Leu) Potentially less severe Classic infantile Positive 12
Variant info Patients:2 exon 7 c.1082C>A r.(1082c>a) p.(Pro361Arg) potentially less severe Unknown (found only in NBS) Positive 2
Variant info Patients:4 exon 7 c.1099T>C r.(1099u>c) p.(Trp367Arg) Potentially less severe Classic infantile Positive 4
Variant info Patients:1 exon 7 c.1099T>G r.(1099u>g) p.(Trp367Gly) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 7 c.1100G>A r.(1100g>a) p.(Trp367*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 7 c.1101G>A r.(1101g>a) p.(Trp367*) Very severe Classic infantile Negative 1
Variant info Patients:1 exon 7 c.1106T>C r.(1106u>c) p.(Leu369Pro) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 7 c.1106T>A r.(1106u>a) p.(Leu369Gln) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 7 c.1108G>A r.(1108g>a) p.(Gly370Ser) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 7 c.1109G>A r.(1109g>a) p.(Gly370Asp) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 7 c.1114C>G r.(1114c>g) p.(His372Asp) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 7 c.1114C>T r.(1114c>u) p.(His372Tyr) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:7 exon 7 c.1115A>T r.(1115a>u) p.(His372Leu) Potentially less severe Classic infantile Positive 7
Variant info Patients:1 exon 7 c.1118T>G r.(1118u>g ) p.(Leu373Arg) Unknown Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 7 c.1120T>C r.(1120u>c) p.(Cys374Arg) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 7 c.1121G>A r.(1121g>a) p.(Cys374Tyr) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:14 exon 7 c.1124G>T r.(1124g>u) p.(Arg375Leu) Potentially less severe Classic infantile Positive 14
Variant info Patients:2 exon 7 c.1124G>A r.(1124g>a) p.(Arg375His) Unknown Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 7 c.1127_1130del r.(1127_1130del) p.(Trp376Serfs*15) very severe Unknown (disease-associated) Positive 1
Variant info Patients:3 exon 7 c.1128_1129delinsC r.(1128_1129delinsc) p.(Trp376Cysfs*16) Very severe Classic infantile Negative 3
Variant info Patients:2 exon 7 c.1129G>C r.(1129g>c) p.(Gly377Arg) Potentially less severe Classic infantile Positive 2
Variant info Patients:3 exon 7 c.1129G>A r.(1129g>a) p.(Gly377Ser) Potentially less severe Unknown (disease-associated) Positive 3
Variant info Patients:2 exon 7 c.1134C>G r.(1134c>g) p.(Tyr378*) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:8 exon 7 c.1143del r.(1143del) p.(Ala382Leufs*10) Very severe Unknown (disease-associated) Negative 8
Variant info Patients:2 exon 7 c.1153del r.(1153del) p.(Arg385Alafs*7) very severe Unknown (disease-associated) Negative 2
Variant info Patients:2 exon 7 c.1156C>T r.(1156c>u) p.(Gln386*) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:2 exon 7 c.1157dup r.(1157dup) p.(Val387Glyfs*119) Very severe Classic infantile Negative 2
Variant info Patients:1 exon 7 c.1165del r.(1165del) p.(Glu389Argfs*3) Very severe Classic infantile or Childhood Negative 1
Variant info Patients:1 exon 7 c.1171A>G r.(1171a>g) p.(Met391Val) Presumably non-pathogenic Unknown (disease-associated) Unknown 1
Variant info Patients:2 exon 7 c.1190C>T r.(1190c>u) p.(Pro397Leu) Less severe Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 7 c.1192dup r.(1192dup) p.(Leu398Profs*108) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 7 c.1192del r.(1192del) p.(Leu398Trpfs*42) very severe Unknown (disease-associated) 1
Variant info Patients:1 exon 7 c.1193del r.(1193del) p.(Leu398Argfs*42) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 intron 7 c.1194+2T>A r.spl p.? Very severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 intron 7 c.1194+2T>C r.spl p.? Very severe Classic infantile Unknown 1
Variant info Patients:1 intron 7 c.1194+5G>A r.(spl?) p.? less severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 intron 7 c.1195-44C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 7 c.1195-19_2190-20del r.spl p.? Very severe Classic infantile Negative 2
Variant info Patients:1 intron 7 c.1195-15G>A r.(=) p.? Unknown Unknown (disease-associated) Positive 1
Variant info Patients:2 intron 7 c.1195-8G>A r.(spl?) p.? Unknown Childhood or Adult Unknown 2
Variant info Patients:3 intron 7 c.1195-2A>G r.spl p.? Very severe Classic infantile Unknown 3
Variant info Patients:3 exon 8 c.1199_1210del r.(1199_1210del) p.(Val400_Asn403del) Very severe Classic infantile Unknown 3
Variant info Patients:2 exon 8 c.1201C>A r.(1201c>a) p.(Gln401Lys) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 8 c.1202A>G r.(1202a>g) p.(Gln401Arg) Potentially less severe Classic infantile Positive 1
Variant info Patients:0 exon 8 c.1203G>A r.1203g>a p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 8 c.1204T>C r.(1204u>c) p.(Trp402Arg) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 8 c.1209C>G r.(1209c>g) p.(Asn403Lys) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 8 c.1209C>A r.(1209c>a) p.(Asn403Lys) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:4 exon 8 c.1209del r.(1209del) p.(Asn403Lysfs*37) Very severe Classic infantile Negative 4
Variant info Patients:4 exon 8 c.1210G>A r.(1210g>a) p.(Asp404Asn) Potentially less severe Classic infantile Positive 4
Variant info Patients:2 exon 8 c.1211A>G r.(1211a>g) p.(Asp404Gly) Potentially less severe Classic infantile Positive 2
Variant info Patients:1 exon 8 c.1211A>C r.(1211a>c) p.(Asp404Ala) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 8 c.1211A>T r.(1211a>u) p.(Asp404Val) potentially less severe Classic infantile Positive 0
Variant info Patients:1 exon 8 c.1212C>G r.(1212c>g) p.(Asp404Glu) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 8 c.1214T>C r.(1214u>c) p.(Leu405Pro) Potentially less severe Classic infantile Positive 1
Variant info Patients:3 exon 8 c.1216G>A r.(1216g>a) p.(Asp406Asn) potentially less severe Childhood Positive 3
Variant info Patients:0 exon 8 c.1219T>C r.(1219u>c) p.(Tyr407His) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 8 c.1220A>G r.(1220a>g) p.(Tyr407Cys) potentially less severe Unknown (found only in NBS) Positive 1
Variant info Patients:0 exon 8 c.1221C>A r.(1221c>a) p.(Tyr407*) very severe Classic infantile Negative 0
Variant info Patients:1 exon 8 c.1221del r.1221del p.(Tyr407*) very severe Unknown (disease-associated) Negative 1
Variant info Patients:3 exon 8 c.1222A>G r.(1222a>g) p.(Met408Val) Potentially less severe Classic infantile Positive 3
Variant info Patients:1 exon 8 c.1226_1227insG r.(1226_1227insg) p.(Asp409Glufs*97) very severe Classic infantile Negative 1
Variant info Patients:0 exon 8 c.1229C>T r.(1229c>u) p.(Ser410Phe) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 8 c.1231del r.(1231del) p.(Arg411Glyfs*29) very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 8 c.1239C>G r.(1239c>g) p.(Asp413Glu) Unknown Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 8 c.1240T>C r.(1240u>c) p.(Phe414Leu) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 8 c.1241del r.(1241del) p.(Phe414Serfs*26) very severe Classic infantile Negative 1
Variant info Patients:1 exon 8 c.1242C>A r.(1242c>a) p.(Phe414Leu) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 8 c.1244C>T r.(1244c>u) p.(Thr415Met) potentially less severe Unknown (found only in NBS) Positive 1
Variant info Patients:1 exon 8 c.1249A>C r.(1249a>c) p.(Asn417His) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 8 c.1256A>T r.1256a>u p.(Asp419Val) Potentially mild Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 8 c.1280T>C r.(1280u>c) p.(Met427Thr) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 8 c.1281G>T r.(1281g>u) p.(Met427Ile) potentially less severe Classic infantile Positive 0
Variant info Patients:0 exon 8 c.1286A>G r.(1286a>g) p.(Gln429Arg) Unknown Unknown Positive 0
Variant info Patients:2 exon 8 c.1291_1299del r.(1291_1299del) p.(Leu431_Gln433del) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 8 c.1292_1295dup r.(1292_1295dup) p.(Gln433Alafs*74) very severe Classic infantile Negative 1
Variant info Patients:1 exon 8 c.1293_1326+57del r.? p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:2 exon 8 c.1293_1312del r.(1293_1312del) p.(Gln433Aspfs*66) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 8 c.1297C>A r.(1297c>a) p.(Gln433Lys) Unknown Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 8 c.1298A>C r.(1298a>c) p.(Gln433Pro) Potentially less severe Classic infantile Positive 1
Variant info Patients:21 exon 8 c.1309C>T r.(1309c>u) p.(Arg437Cys) Less severe Childhood Positive 21
Variant info Patients:1 exon 8 c.1310G>A r.(1310g>a) p.(Arg437His) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 8 c.1311_1312ins(26) r.spl p.? very severe Classic infantile Unknown 0
Variant info Patients:14 exon 8 c.1316T>A r.(1316u>a) p.(Met439Lys) Potentially mild Classic infantile Positive 14
Variant info Patients:2 exon 8 c.1320_1322del r.(1320_1322del) p.(Met440del) Potentially less severe Classic infantile Positive 2
Variant info Patients:2 exon 8 c.1322_1326+9del r.spl p.? Very severe Classic infantile Negative 2
Variant info Patients:1 exon 8 c.1324G>A r.(1324g>a) p.(Val442Met) Unknown Unknown (found only in NBS) Positive 1
Variant info Patients:2 intron 8 c.1326+1G>A r.spl p.? Very severe Classic infantile Unknown 2
Variant info Patients:0 intron 8 c.1326+5G>A r.(spl?) p.? Unknown Unknown Unknown 0
Variant info Patients:0 intron 8 c.1326+132G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 8 c.1326+459C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 8 c.1326+460G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 8 c.1327-514G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 8 c.1327-356G>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 8 c.1327-321del r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 8 c.1327-269A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 8 c.1327-209C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 8 c.1327-179G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 8 c.1327-118A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 8 c.1327-54_1437+178del r.1327_1437del p.? very severe Classic infantile Positive 1
Variant info Patients:0 intron 8 c.1327-18A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:3 intron 8 c.1327-2A>G r.spl p.? Very severe Classic infantile Unknown 3
Variant info Patients:1 intron 8 c.1327-2A>C r.spl p.? Very severe Classic infantile Unknown 1
Variant info Patients:1 exon 9 c.1331C>G r.(1331c>g) p.(Pro444Arg) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 9 c.1333G>C r.(1333g>c) p.(Ala445Pro) Potentially less severe Childhood Positive 1
Variant info Patients:1 exon 9 c.1354_1372del r.(1354_1372del) p.(Ala452Thrfs*19) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:3 exon 9 c.1356del r.(1356del) p.(Ser454Alafs*23) Very severe Classic infantile Negative 3
Variant info Patients:1 exon 9 c.1358_1361del r.(1358_1361del) p.(Gly453Alafs*23) very severe Classic infantile Unknown 1
Variant info Patients:1 exon 9 c.1364A>C r.(1364a>c) p.(Tyr455Cys) Unknown Childhood Positive 1
Variant info Patients:2 exon 9 c.1364A>T r.(1364a>u) p.(Tyr455Phe) Less severe Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 9 c.1370C>T r.(1370c>u) p.(Pro457Leu) Potentially mild Childhood Positive 1
Variant info Patients:0 exon 9 c.1370C>A r.(1370c>a) p.(Pro457His) Potentially less severe Unknown Positive 0
Variant info Patients:2 exon 9 c.1371del r.(1371del) p.(Tyr458Thrfs*19) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:0 exon 9 c.1373A>G r.(1373a>g) p.(Tyr458Cys) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 9 c.1374C>T r.1374c>u p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:3 exon 9 c.1375G>A r.(1375g>a) p.(Asp459Asn) Unknown Unknown (disease-associated) Positive 3
Variant info Patients:1 exon 9 c.1377_1379del r.(1377_1379del) p.(Asp459del) Very severe Classic infantile Positive 1
Variant info Patients:2 exon 9 c.1378G>T r.(1378g>u) p.(Glu460*) very severe Unknown (disease-associated) Negative 2
Variant info Patients:0 exon 9 c.1381G>A r.(1381g>a) p.(Gly461Ser) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 9 c.1385T>C r.(1385u>c) p.(Leu462Pro) Unknown Classic infantile Positive 1
Variant info Patients:1 exon 9 c.1388_1406del r.(1388_1406del) p.(Arg463Profs*8) very severe Unknown (disease-associated) Negative 1
Variant info Patients:5 exon 9 c.1396del r.(1396del) p.(Val466Phefs*11) Very severe Classic infantile Negative 5
Variant info Patients:2 exon 9 c.1396dup r.(1396dup) p.(Val466Glyfs*40) very severe Unknown (disease-associated) Negative 2
Variant info Patients:2 exon 9 c.1396G>T r.(1396g>u) p.(Val466Phe) Potentially less severe Classic infantile Positive 2
Variant info Patients:1 exon 9 c.1397T>G r.(1397u>g) p.(Val466Gly) Unknown Childhood Positive 1
Variant info Patients:2 exon 9 c.1402A>T r.(1402a>u) p.(Ile468Phe) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:3 exon 9 c.1408_1410del r.(1408_1410del) p.(Asn470del) Unknown Classic infantile Positive 3
Variant info Patients:1 exon 9 c.1409A>G r.(1409a>g) p.(Asn470Ser) potentially less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 9 c.1409A>C r.(1409a>c) p.(Asn470Thr) unknown Unknown (found only in NBS) Positive 1
Variant info Patients:18 exon 9 c.1411_1414del r.(1411_1414del) p.(Glu471Profs*5) Very severe Classic infantile Negative 18
Variant info Patients:1 exon 9 c.1431del r.(1431del) p.(Ile477Metfs*43) very severe Classic infantile Negative 1
Variant info Patients:3 exon 9 c.1432G>A r.(1432g>a) p.(Gly478Arg) Potentially less severe Classic infantile Positive 3
Variant info Patients:2 exon 9 c.1437G>C r.[(1437g>c), r.(spl?)] p.[(Lys479Asn), p.(?)] Potentially less severe Classic infantile Unknown 2
Variant info Patients:5 exon 9 c.1437G>A r.[1437g>a, 1327_1437del] p.[(=), (Asp443_Lys479del)] Less severe Unknown (disease-associated) Positive 5
Variant info Patients:1 intron 9 c.1437+1G>A r.spl p.? Very severe Classic infantile or Childhood Unknown 1
Variant info Patients:6 intron 9 c.1437+2T>C r.1327_1437del p.(Asp443_Lys479del) Very severe Classic infantile Unknown 6
Variant info Patients:0 intron 9 c.1438-220A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 9 c.1438-108G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 9 c.1437+4G>C r.(spl?) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 9 c.1438-19G>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 9 c.1438-2A>G r.spl p.? Very severe Classic infantile Unknown 2
Variant info Patients:2 intron 9 c.1438-1G>C r.spl p.? Very severe Classic infantile Unknown 2
Variant info Patients:0 intron 9 c.1438-1G>T r.spl p.? Very severe Unknown Unknown 0
Variant info Patients:1 exon 10 c.1441del r.(1441del) p.(Trp481Glyfs*39) Very severe Classic infantile Negative 1
Variant info Patients:7 exon 10 c.1441T>C r.(1441u>c) p.(Trp481Arg) Potentially less severe Classic infantile Positive 7
Variant info Patients:1 exon 10 c.1442G>A r.(1442g>a) p.(Trp481*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 10 c.1445C>T r.(1445c>u) p.(Pro482Leu) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:3 exon 10 c.1445C>G r.(1445c>g) p.(Pro482Arg) Potentially less severe Unknown (disease-associated) Positive 3
Variant info Patients:0 exon 10 c.1446del r.(1446del) p.(Ser484Profs*36) very severe Unknown (disease-associated) Negative 0
Variant info Patients:7 exon 10 c.1447G>A r.(1447g>a) p.(Gly483Arg) Less severe Classic infantile Positive 7
Variant info Patients:1 exon 10 c.1447G>T r.(1447g>u) p.(Gly483Trp) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 10 c.1448G>T r.(1448g>u) p.(Gly483Val) Potentially less severe Unknown Positive 0
Variant info Patients:2 exon 10 c.1456G>C r.(1456g>c) p.(Ala486Pro) Potentially less severe Classic infantile Positive 2
Variant info Patients:0 exon 10 c.1456G>T r.(1456g>u) p.(Ala486Ser) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 10 c.1456_1468del r.(1456_1468del) p.(Ala486Serfs*30) Very severe Classic infantile Negative 1
Variant info Patients:1 exon 10 c.1460T>C r.(1460u>c) p.(Phe487Ser) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 10 c.1464dup r.1464dup p.(Asp489Argfs*17) very severe Classic infantile Negative 1
Variant info Patients:8 exon 10 c.1465G>A r.(1465g>a) p.(Asp489Asn) Potentially less severe Classic infantile Positive 8
Variant info Patients:1 exon 10 c.1465G>T r.(1465g>u) p.(Asp489Tyr) Unknown Classic infantile Positive 1
Variant info Patients:1 exon 10 c.1466A>G r.(1466a>g) p.(Asp489Gly) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 10 c.1468T>C r.(1468u>c) p.(Phe490Leu) Less severe Unknown Positive 0
Variant info Patients:1 exon 10 c.1470C>A r.(1470c>a) p.(Phe490Leu) Potentially less severe Childhood Positive 1
Variant info Patients:1 exon 10 c.1477C>T r.(1477c>u) p.(Pro493Ser) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:3 exon 10 c.1478C>T r.(1478c>u) p.(Pro493Leu) Unknown Adult Positive 3
Variant info Patients:1 exon 10 c.1493G>A r.(1493g>a) p.(Trp498*) very severe Classic infantile Unknown 1
Variant info Patients:2 exon 10 c.1495T>A r.(1495u>a) p.(Trp499Arg) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:2 exon 10 c.1496G>A r.(1496g>a) p.(Trp499*) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 10 c.1497G>A r.(1497g>a) p.(Trp499*) Very severe Classic infantile Negative 2
Variant info Patients:0 exon 10 c.1501_1515del r.(1501_1515del) p.(Asp501_Glu505del) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 10 c.1504A>G r.(1504a>g) p.(Met502Val) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 10 c.1507del r.(1507del) p.(Val503Trpfs*17) very severe Classic infantile Negative 0
Variant info Patients:1 exon 10 c.1509_1511del r.(1509_1511del) p.(Ala504del) Potentially less severe Classic infantile Positive 1
Variant info Patients:2 exon 10 c.1526A>T r.(1526a>u) p.(Gln509Leu) potentially less severe Unknown (disease-associated) Unknown 2
Variant info Patients: exon 10 c.1531C>A r.(1531c>a) p.(Pro511Thr) Potentially less severe Unknown (disease-associated) Unknown
Variant info Patients:0 exon 10 c.1537G>A r.(1537g>a) p.(Asp513Asn) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 10 c.1538A>G r.(1538a>g) p.(Asp513Gly) potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 10 c.1540G>C r.(1540g>c) p.(Gly514Arg) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 10 c.1544T>A r.(1544u>a) p.(Met515Lys) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:23 exon 10 c.1548G>A r.(1548g>a) p.(Trp516*) Very severe Classic infantile Negative 23
Variant info Patients:5 intron 10 c.1551+1G>C r.spl p.? Very severe Classic infantile Unknown 5
Variant info Patients:5 intron 10 c.1551+1G>T r.[=,1438_1551del] p.[(=),(Val480_Ile517del)] Potentially less severe Unknown (disease-associated) Positive 5
Variant info Patients:2 intron 10 c.1551+1G>A r.[=,1438_1551del] p.[(=),(Val480_Ile517del)] Very severe Unknown (disease-associated) Positive 2
Variant info Patients:2 intron 10 c.1551+2T>G r.spl p.? Very severe Classic infantile Unknown 2
Variant info Patients:1 intron 10 c.1551+3_1551+6del r.(spl?) p.? Potentially less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 intron 10 c.1551+3A>T r.(spl?) p.? potentially less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 intron 10 c.1551+5G>A r.(spl?) p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 intron 10 c.1551+42G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 10 c.1551+49C>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 10 c.1551+49C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 10 c.1552-3C>G r.[=,1551ins30, 1551ins100] p.[(=), (Val480_Ile517del), (Ile517_Asp518insSerHisLeuProAlaAlaLeuLeuLeuGln)] Potentially mild Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 11 c.1555A>G r.(1555a>g) p.(Met519Val) Less severe Classic infantile Positive 1
Variant info Patients:2 exon 11 c.1556T>C r.(1556u>c) p.(Met519Thr) Potentially less severe Classic infantile Positive 2
Variant info Patients:1 exon 11 c.1559A>G r.(1559a>g) p.(Asn520Ser) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 11 c.1560C>G r.(1560c>g) p.(Asn520Lys) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 11 c.1561G>C r.(1561g>c) p.(Glu521Gln) Potentially less severe Classic infantile Positive 1
Variant info Patients:7 exon 11 c.1561G>A r.(1561g>a) p.(Glu521Lys) Potentially less severe Classic infantile or Childhood Positive 7
Variant info Patients:4 exon 11 c.1562A>T r.(1562a>u) p.(Glu521Val) Unknown Classic infantile Unknown 4
Variant info Patients:7 exon 11 c.1564C>G r.(1564c>g) p.(Pro522Ala) Potentially less severe Classic infantile Positive 7
Variant info Patients:1 exon 11 c.1564C>A r.(1564c>a) p.(Pro522Thr) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 11 c.1564C>T r.(1564c>u) p.(Pro522Ser) Potentially less severe Unknown Positive 0
Variant info Patients:0 exon 11 c.1568C>A r.(1568c>a) p.(Ser523Tyr) Potentially less severe Unknown Positive 0
Variant info Patients:2 exon 11 c.1574T>A r.(1574u>a) p.(Phe525Tyr) Potentially mild Unknown (found only in NBS) Positive 2
Variant info Patients:1 exon 11 c.1579_1580del r.(1579_1580del) p.(Arg527Glyfs*3) very severe Classic infantile Unknown 1
Variant info Patients:0 exon 11 c.1581G>A r.1581g>a p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 11 c.1582_1583del r.(1582_1583del) p.(Gly528Leufs*2) Very severe Classic infantile Negative 1
Variant info Patients:0 exon 11 c.1583G>C r.(1583g>c) p.(Gly528Ala) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:4 exon 11 c.1585_1586delinsGT r.(1585_1586delinsGU) p.(Ser529Val) Potentially mild Adult Positive 4
Variant info Patients:3 exon 11 c.1591dup r.(1591dup) p.(Asp531Glyfs*7) Very severe Unknown (disease-associated) Negative 3
Variant info Patients:1 exon 11 c.1594G>A r.(1594g>a) p.(Gly532Ser) potentially less severe Adult Positive 1
Variant info Patients:1 exon 11 c.1597T>G r.(1597u>g) p.(Cys533Gly) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 11 c.1602_1605delinsAGG r.(1602_1605delinsagg) p.(Asn535Glyfs*43) very severe Classic infantile Negative 1
Variant info Patients:0 exon 11 c.1610del r.(1610del) p.(Glu537Glyfs*41) very severe Unknown (disease-associated) Negative 0
Variant info Patients:1 exon 11 c.1626C>G r.(1626c>g) p.(=) Unknown Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 11 c.1627T>G r.(1627u>g) p.(Tyr543Asp) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 11 c.1629C>G r.(1629c>g) p.(Tyr543*) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:7 exon 11 c.1634C>T r.(1634c>u) p.(Pro545Leu) Less severe Childhood or Adult Unknown 7
Variant info Patients:0 exon 11 c.1636G>C r.(1636g>c) p.(Gly546Arg) Very severe Unknown (disease-associated) Unknown 0
Variant info Patients:6 intron 11 c.1636+1G>C r.spl p.? Very severe Unknown (disease-associated) Unknown 6
Variant info Patients:1 intron 11 c.1636+5G>T r.(spl?) p.? Potentially mild Unknown (disease-associated) Unknown 1
Variant info Patients:1 intron 11 c.1636+5G>A r.(spl?) p.? very severe Classic infantile Unknown 1
Variant info Patients:1 intron 11 c.1636+5G>C r.(1636_1637ins957 p.(Gly546fs*145) Very severe Classic infantile Unknown 1
Variant info Patients:0 intron 11 c.1636+43G>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+117del r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+117C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+118G>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+205C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+210G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+269C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+284G>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+389C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+390A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+404A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1637-185A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 11 c.1637-2A>G r.spl p.? Very severe Classic infantile Unknown 1
Variant info Patients:3 exon 12 c.1642G>T r.(1642g>u) p.(Val548Phe) Unknown Unknown (disease-associated) Positive 3
Variant info Patients:1 exon 12 c.1645G>A r.(1645g>a) p.(Gly549Arg) Potentially mild Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 12 c.1645G>C r.(1645g>c) p.(Gly549Arg) Potentially mild Unknown (disease-associated) Positive 1
Variant info Patients:4 exon 12 c.1650dup r.(1650dup) p.(Thr551Aspfs*85) Very severe Classic infantile Negative 4
Variant info Patients:4 exon 12 c.1650del r.(1650del) p.(Thr551Profs*27) very severe Unknown (disease-associated) Negative 4
Variant info Patients:2 exon 12 c.1654del r.(1654del) p.(Leu552Serfs*26) Very severe Classic infantile Negative 2
Variant info Patients:42 exon 12 c.1655T>C r.(1655u>c) p.(Leu552Pro) Potentially less severe Classic infantile Positive 42
Variant info Patients:6 exon 12 c.1657C>T r.(1657c>u) p.(Gln553*) very severe Classic infantile Negative 6
Variant info Patients:2 exon 12 c.1666A>G r.(1666a>g) p.(Thr556Ala) Unknown Unknown (disease-associated) Positive 2
Variant info Patients:4 exon 12 c.1669A>T r.(1669a>u) p.(Ile557Phe) Very severe Classic infantile Positive 4
Variant info Patients:2 exon 12 c.1670T>G r.(1670u>g) p.(Ile557Ser) very severe Unknown Unknown 2
Variant info Patients:0 exon 12 c.1672T>A r.(1672u>a) p.(Cys558Ser) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 12 c.1673G>C r.(1673g>c) p.(Cys558Ser) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 12 c.1681_1699dup r.(1681_1699dup) p.(Thr567Lysfs*75) very severe Unknown (disease-associated) Negative 1
Variant info Patients:4 exon 12 c.1687C>T r.(1687c>u) p.(Gln563*) Very severe Classic infantile Negative 4
Variant info Patients:2 exon 12 c.1688A>T r.(1688a>u) p.(Gln563Leu) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:4 exon 12 c.1694_1697del r.(1694_1697del) p.(Leu565Profs*12) Very severe Unknown (disease-associated) Negative 4
Variant info Patients:7 exon 12 c.1696T>C r.(1696u>c) p.(Ser566Pro) Potentially less severe Classic infantile Positive 7
Variant info Patients:1 exon 12 c.1703A>T r.(1703a>u) p.(His568Leu) Less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 12 c.1704C>G r.(1704c>g) p.(His568Gln) Unknown Adult Unknown 1
Variant info Patients:1 exon 12 c.1705dup r.(1705dup) p.(tyr569Leufs*67) Very severe Classic infantile Negative 1
Variant info Patients:2 exon 12 c.1710C>G r.(1710c>g) p.(Asn570Lys) Potentially less severe Classic infantile Positive 2
Variant info Patients:2 exon 12 c.1716C>G r.(1716c>g) p.(His572Gln) Potentially less severe Classic infantile Unknown 2
Variant info Patients:1 exon 12 c.1716C>A r.(1716c>a) p.(His572Gln) potentially less severe Classic infantile Positive 1
Variant info Patients:0 exon 12 c.1717A>C r.(1717a>c) p.(Asn573His) Potentially less severe Unknown Positive 0
Variant info Patients:2 exon 12 c.1719C>A r.(1719c>a) p.(Asn573Lys) Unknown Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 12 c.1721T>C r.(1721u>c) p.(Leu574Pro) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 12 c.1724A>C r.(1724a>c) p.(Tyr575Ser) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 12 c.1724A>G r.(1724a>g) p.(Tyr575Cys) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 12 c.1725C>A r.(1725c>a) p.(Tyr575*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 12 c.1726G>A r.1726g>a p.(Gly576Ser) Presumably non-pathogenic Unknown Unknown 0
Variant info Patients: exon 12 c.1726G>C r.(1726g>c) p.(Gly576Arg) Potentially less severe Unknown (disease-associated) Positive
Variant info Patients:0 exon 12 c.1727G>A r.(1727g>a) p.(Gly576Asp) Potentially less severe Unknown Positive 0
Variant info Patients:5 exon 12 c.1735G>A r.(1735g>a) p.(Glu579Lys) Potentially less severe Classic infantile Positive 5
Variant info Patients:1 exon 12 c.1748C>T r.(1748c>u) p.(Ser583Phe) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 12 c.1753_2799del r.(1753_2799del) p.(Arg586_Lys933del) very severe Classic infantile Unknown 1
Variant info Patients:1 exon 12 c.1754G>T r.[(1754g>u), r.(spl?)] p.[(Arg585Met), p.?] Less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 12 c.1754G>A r.[(1754g>a), r.(spl?)] p.[(Arg585Lys), p.?] Less severe Childhood or Adult Unknown 1
Variant info Patients:3 intron 12 c.1754+1G>A r.spl p.? Very severe Classic infantile Negative 3
Variant info Patients:3 intron 12 c.1754+1dup r.spl p.? very severe Unknown (disease-associated) Unknown 3
Variant info Patients:1 intron 12 c.1754+2T>A r.spl p.? Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 intron 12 c.1754+2T>C r.spl p.? very severe Unknown (disease-associated) Unknown 0
Variant info Patients:0 intron 12 c.1754+12G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 12 c.1754+100C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 12 c.1754+104C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 12 c.1754+144C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 12 c.1755-186A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 12 c.1754+16C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 12 c.1755-1G>A r.spl p.? Very severe Classic infantile Unknown 2
Variant info Patients:1 exon 13 c.1760T>C r.(1760u>c) p.(Leu587Pro) Unknown Classic infantile Positive 1
Variant info Patients:1 exon 13 c.1771C>T r.(1771c>u) p.(Arg591Trp) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 13 c.1776del r.(1776del) p.(Thr593Hisfs*5) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 13 c.1780C>T r.(1780c>u) p.(Arg594Cys) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:3 exon 13 c.1781G>C r.(1781g>c) p.(Arg594Pro) Potentially less severe Childhood or adult Positive 3
Variant info Patients:3 exon 13 c.1781G>A r.(1781g>a) p.(Arg594His) Potentially less severe Childhood Positive 3
Variant info Patients:1 exon 13 c.1784C>T r.(1784c>u) p.(Pro595Leu) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:2 exon 13 c.1796C>A r.(1796c>a) p.(Ser599Tyr) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:5 exon 13 c.1796C>T r.(1796c>u) p.(Ser599Phe) Less severe Unknown (disease-associated) Positive 5
Variant info Patients:18 exon 13 c.1798C>T r.(1798c>u) p.(Arg600Cys) Less severe Classic infantile Positive 18
Variant info Patients:13 exon 13 c.1799G>A r.(1799g>a) p.(Arg600His) Potentially less severe Classic infantile Positive 13
Variant info Patients:1 exon 13 c.1799G>C r.(1799g>c) p.(Arg600Pro) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 13 c.1799G>T r.(1799g>u) p.(Arg600Leu) Potentially less severe Classic infantile Positive 1
Variant info Patients:2 exon 13 c.1802C>A r.(1802c>a) p.(Ser601*) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 13 c.1802C>G r.(1802c>g) p.(Ser601Trp) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:10 exon 13 c.1802C>T r.(1802c>u) p.(Ser601Leu) Potentially less severe Classic infantile Positive 10
Variant info Patients:0 exon 13 c.1804A>G r.(1804a>g) p.(Thr602Ala) Less severe Unknown Positive 0
Variant info Patients:1 exon 13 c.1805C>T r.(1805c>u) p.(Thr602Ile) Potentially less severe Unknown (found only in NBS) Positive 1
Variant info Patients:1 exon 13 c.1814G>A r.(1814g>a) p.(Gly605Asp) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:2 exon 13 c.1819_1836del r.(1819_1836del) p.(Gly607_His612del) Very severe Unknown (disease-associated) Positive 2
Variant info Patients:2 exon 13 c.1820G>A r.(1820g>a) p.(Gly607Asp) Potentially less severe Classic infantile Positive 2
Variant info Patients:8 exon 13 c.1822C>T r.(1822c>u) p.(Arg608*) Very severe Classic infantile Negative 8
Variant info Patients:1 exon 13 c.1822del r.(1822del) p.(Arg608Aspfs*88) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 13 c.1824_1828dup r.(1824_1828dup) p.(Ala610Aspfs*88) Very severe Classic infantile Negative 1
Variant info Patients:2 exon 13 c.1825T>G r.(1825u>g) p.(Tyr609Asp) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:4 exon 13 c.1826dup r.(1826dup) p.(Tyr609*) Very severe Classic infantile Negative 4
Variant info Patients:3 exon 13 c.1827del r.(1827del) p.(Tyr609*) Very severe Unknown (disease-associated) Negative 3
Variant info Patients:1 exon 13 c.1827C>G r.(1827c>g) p.(Tyr609*) Very severe Classic infantile Negative 1
Variant info Patients:2 exon 13 c.1829C>T r.(1829c>u) p.(Ala610Val) Less severe Childhood Positive 2
Variant info Patients:0 exon 13 c.1830C>T r.(1830c>u) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:2 exon 13 c.1832G>A r.(1832g>a) p.(Gly611Asp) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:5 exon 13 c.1833_1847delinsACGGGGTAT c.(1833_1847delinsacgggguau) p.(His612_Asp616delinsArgGlyIle) Very severe Classic infantile Positive 5
Variant info Patients:1 exon 13 c.1834C>T r.(1834c>u) p.(His612Tyr) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 13 c.1835A>C r.(1835a>c) p.(His612Pro) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 13 c.1835A>G r.(1835a>g) p.(His612Arg) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 13 c.1836C>G r.(1836c>g) p.(His612Gln) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:2 exon 13 c.1837T>G r.(1837u>g) p.(Trp613Gly) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 13 c.1839G>C r.(1839g>c) p.(Trp613Cys) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 13 c.1840A>G r.(1840a>g) p.(Thr614Ala) unknown Unknown (found only in NBS) Positive 1
Variant info Patients:3 exon 13 c.1841C>A r.(1841c>a) p.(Thr614Lys) Potentially less severe Unknown (disease-associated) Positive 3
Variant info Patients:9 exon 13 c.1843G>A r.(1843g>a) p.(Gly615Arg) Potentially less severe Classic infantile Positive 9
Variant info Patients:1 exon 13 c.1844_1846del r.(1844_1846del) p.(Gly615del) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 13 c.1844G>T r.(1844g>u) p.(Gly615Val) Potentially less severe Classic infantile Positive 1
Variant info Patients:0 exon 13 c.1844G>A r.(1844g>a) p.(Gly615Glu) potentially less severe Classic infantile Positive 0
Variant info Patients:1 exon 13 c.1846G>A r.(1846g>a) p.(Asp616Asn) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 13 c.1847dup r.(1847dup) p.(Asp616Glufs*20) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 13 c.1848dup r.(1848dup) p.(Val617Argfs*19) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 13 c.1850T>C r.(1850u>c) p.(Val617Ala) Non-pathogenic Unknown Positive 0
Variant info Patients:4 exon 13 c.1856G>A r.(1856g>a) p.(Ser619Asn) Less severe Childhood or Adult Positive 4
Variant info Patients:14 exon 13 c.1857C>G r.(1857c>g) p.(Ser619Arg) Less severe Classic infantile or Childhood Positive 14
Variant info Patients:1 exon 13 c.1859C>A r.(1859c>a) p.(Ser620Tyr) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 13 c.1872C>T r.(1872c>u) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 13 c.1879T>C r.(1879u>c) p.(Ser627Pro) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 13 c.1879_1881del r.(1879_1881delucc) p.(Ser627del) potentially less severe Classic infantile Positive 1
Variant info Patients:5 exon 13 c.1880C>T r.(1880c>u) p.(Ser627Phe) Unknown Classic infantile Positive 5
Variant info Patients:0 exon 13 c.1886C>T r.(1886c>u) p.(Pro629Leu) Presumably non-pathogenic Unknown Positive 0
Variant info Patients:3 intron 13 c.1888+1G>A r.spl p.? Very severe Unknown (disease-associated) Negative 3
Variant info Patients:1 intron 13 c.1888+2_1888+15del r.spl p.? very severe Classic infantile Unknown 1
Variant info Patients:0 intron 13 c.1888+21G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 13 c.1889-27_2040+23del r.spl p.? Very severe Unknown Negative 0
Variant info Patients: exon 14 c.1895T>C r.(1895u>c) p.(Leu632Pro) potentially less severe Unknown (disease-associated) Positive
Variant info Patients:2 exon 14 c.1895T>G r.(1895u>g) p.(Leu632Arg) potentially less severe Classic infantile Positive 2
Variant info Patients:0 exon 14 c.1903A>G r.(1903a>g) p.(Asn635Asp) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:4 exon 14 c.1905C>A r.(1905c>a) p.(Asn635Lys) Potentially less severe Classic infantile Positive 4
Variant info Patients:14 exon 14 c.1912G>T r.(1912g>u) p.(Gly638Trp) Potentially less severe Classic infantile Unknown 14
Variant info Patients:3 exon 14 c.1913G>T r.(1913g>u) p.(Gly638Val) Potentially less severe Classic infantile Positive 3
Variant info Patients:0 exon 14 c.1913G>A r.(1913g>a) p.(Gly638Glu) potentially less severe Classic infantile Unknown 0
Variant info Patients:0 exon 14 c.1917G>A r.(1917g>a) p.(=) Non-pathogenic Unknown Unknown 0
Variant info Patients:0 exon 14 c.1920T>G r.(1920u>g) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 14 c.1921C>G r.(1921c>g) p.(Leu641Val) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 14 c.1923G>A r.(1923g>a) p.(=) Non-pathogenic Unknown Unknown 0
Variant info Patients:2 exon 14 c.1924G>T r.(1924g>u) p.(Val642Phe) Unknown Classic infantile Positive 2
Variant info Patients:1 exon 14 c.1925T>A r.(1925u>a) p.(Val642Asp) unknown Unknown (found only in NBS) Positive 1
Variant info Patients:34 exon 14 c.1927G>A r.[1927g>a, 1755_1928del, 1889_1928del] p.[Gly643Arg, Leu587_Ala644del, Glu630Gly*53] Potentially less severe Classic infantile Unknown 34
Variant info Patients:4 exon 14 c.1930_1936dup r.(1930_1936dup) p.(Val646Glyfs*93) Very severe Classic infantile Negative 4
Variant info Patients:1 exon 14 c.1930G>C r.(1930g>c) p.(Ala644Pro) Unknown Adult Positive 1
Variant info Patients:3 exon 14 c.1933G>C r.(1933g>c) p.(Asp645His) Potentially less severe Classic infantile Positive 3
Variant info Patients:19 exon 14 c.1933G>A r.(1933g>a) p.(Asp645Asn) Potentially less severe Classic infantile Positive 19
Variant info Patients:1 exon 14 c.1933G>T r.(1933g>u) p.(Asp645Tyr) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:104 exon 14 c.1935C>A r.(1935c>a) p.(Asp645Glu) Potentially less severe Classic infantile Positive 104
Variant info Patients:9 exon 14 c.1941C>G r.(1941c>g) p.(Cys647Trp) Potentially less severe Classic infantile Positive 9
Variant info Patients:24 exon 14 c.1942G>A r.(1942g>a) p.(Gly648Ser) Potentially less severe Classic infantile Unknown 24
Variant info Patients:2 exon 14 c.1943G>A r.(1943g>a) p.(Gly648Asp) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 14 c.1944_1950del r.(1944_1950del) p.(Phe649_Leu650del) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:2 exon 14 c.1951_1952delinsT r.(1951_1952delinsu) p.(Gly651Serfs*45) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:2 exon 14 c.1952dup r.(1951del) p.(Asn652Glnfs*85) very severe Unknown (disease-associated) Negative 2
Variant info Patients:1 exon 14 c.1958C>A r.(1958c>a) p.(Thr653Asn) Unknown Unknown (found only in NBS) Positive 1
Variant info Patients:1 exon 14 c.1960T>C r.(1960u>c) p.(Ser654Pro) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 14 c.1961C>G r.(1961c>g) p.(Ser654*) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 14 c.1962_1964del r.(1962_1964del) p.(Glu656del) Very severe Unknown Positive 1
Variant info Patients:0 exon 14 c.1971G>A r.(1971g>a) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:2 exon 14 c.1978C>T r.(1978c>u) p.(Arg660Cys) Potentially less severe Classic infantile Positive 2
Variant info Patients:6 exon 14 c.1979G>A r.(1979g>a) p.(Arg660His) Potentially less severe Childhood Positive 6
Variant info Patients:0 exon 14 c.1981T>G r.(1981u>g) p.(Trp661Gly) Potentially less severe Unknown Positive 0
Variant info Patients:2 exon 14 c.1987del r.(1987del) p.(Gln663Serfs*33) Very severe Classic infantile Negative 2
Variant info Patients:1 exon 14 c.1993G>A r.(1993g>a) p.(Gly665Arg) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 14 c.2003A>G r.(2003a>g) p.(Tyr668Cys) potentially less severe Unknown (found only in NBS) Positive 1
Variant info Patients:0 exon 14 c.2004C>A r.(2004c>a) p.(Tyr668*) very severe Unknown (disease-associated) Negative 0
Variant info Patients:1 exon 14 c.2012T>A r.(2012u>a) p.(Met671Lys) Unknown Unknown (disease-associated) Unknown 1
Variant info Patients:2 exon 14 c.2012T>G r.(2012u>g) p.(Met671Arg) Potentially less severe Classic infantile Unknown 2
Variant info Patients:10 exon 14 c.2014C>T r.(2014c>u) p.(Arg672Trp) Less severe childhood or adult Positive 10
Variant info Patients: exon 14 c.2015G>T r.(2015g>u) p.(Arg672Leu) Potentially less severe Unknown (disease-associated) Positive
Variant info Patients:6 exon 14 c.2015G>A r.(2015g>a) p.(Arg672Gln) Less severe Classic infantile or Childhood Unknown 6
Variant info Patients:1 exon 14 c.2020C>G r.(2020c>g) p.(His674Asp) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 14 c.2020C>T r.(2020c>u) p.(His674Tyr) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:7 exon 14 c.2024_2026del r.(2024_2026del) p.(Asn675del) Potentially less severe Classic infantile Positive 7
Variant info Patients:1 exon 14 c.2024A>G r.(2024a>g) p.(Asn675Ser) Potentially less severe Classic infantile Positive 1
Variant info Patients:2 exon 14 c.2040G>A r.[(2040g>a), r.(spl?)] p.[(=), p.?] Less severe Childhood Unknown 2
Variant info Patients:1 intron 14 c.2040+1G>T r.spl p.? Very severe Classic infantile Unknown 1
Variant info Patients:1 intron 14 c.2040+2dup r.spl p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 intron 14 c.2040+12G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 14 c.2040+20A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 14 c.2040+20A>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 14 c.2040+22G>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 14 c.2040+29_2190-270del r.spl p.(Pro681_Glu730del) very severe Classic infantile Unknown 1
Variant info Patients:0 intron 14 c.2040+66C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 14 c.2040+69A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 14 c.2041-64G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 14 c.2041-61del r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 14 c.2041-2A>C r.spl p.? Very severe Classic infantile Unknown 2
Variant info Patients:0 intron 14 c.2041-2A>G r.spl p.? very severe Classic infantile Unknown 0
Variant info Patients:2 intron 14 c.2041-1G>A r.spl p.? Very severe Unknown (disease-associated) Unknown 2
Variant info Patients:1 exon 15 c.2045A>G r.(2045a>g) p.(Gln682Arg) Unknown Classic infantile Positive 1
Variant info Patients:1 exon 15 c.2051C>A r.(2051c>a) p.(Pro684Gln) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients: exon 15 c.2051C>G r.(2051c>g) p.(Pro684Arg) Potentially less severe Unknown (disease-associated) Unknown
Variant info Patients:0 exon 15 c.2051C>T r.(2051c>u) p.(Pro684Leu) potentially less severe Classic infantile Positive 0
Variant info Patients:1 exon 15 c.2055C>A r.(2055c>a) p.(Tyr685*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 15 c.2055C>G r.(2055c>g) p.(Tyr685*) very severe Unknown (found only in NBS) Negative 2
Variant info Patients:0 exon 15 c.2056_2057delinsCC r.(2056_2057delinscc) c.2056_2057delinsCC) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:0 exon 15 c.2061C>T r.(2061c>u) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 15 c.2065G>A r.2065g>a p.(Glu689Lys) Non-pathogenic Unknown Positive 0
Variant info Patients:3 exon 15 c.2066_2070dup r.(2066_2070dup) p.(Ala691Serfs*7) Very severe Unknown (disease-associated) Negative 3
Variant info Patients:7 exon 15 c.2078dup r.(2078dup) p.(Ala694Glyfs*43) Very severe Classic infantile Negative 7
Variant info Patients:1 exon 15 c.2084dup r.(2084dup) p.(Met695Ilefs*42) very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 15 c.2096T>C r.(2096u>c) p.(Leu699Pro) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:0 exon 15 c.2097_2102del r.(2097_2102del) p.(Thr700_Leu701del) Potentially less severe Unknown Positive 0
Variant info Patients:6 exon 15 c.2104C>T r.(2104c>u) p.(Arg702Cys) Potentially less severe Classic infantile Positive 6
Variant info Patients:5 exon 15 c.2105G>A r.(2105g>a) p.(Arg702His) Potentially mild Classic infantile Positive 5
Variant info Patients:4 exon 15 c.2105G>T r.(2105g>u) p.(Arg702Leu) Potentially less severe Classic infantile Positive 4
Variant info Patients:2 exon 15 c.2109del r.(2109del) p.(Tyr703*) very severe Unknown (disease-associated) Negative 2
Variant info Patients:2 exon 15 c.2114T>C r.(2114u>c) p.(Leu705Pro) Unknown Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 15 c.2131A>C r.(2131a>c) p.(Thr711Pro) potentially less severe Classic infantile Positive 1
Variant info Patients:4 exon 15 c.2132C>G r.(2132c>g) p.(Thr711Arg) Non-pathogenic Classic infantile Unknown 4
Variant info Patients:0 exon 15 c.2133A>G r.2133a>g p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:4 exon 15 c.2135T>C r.(2135u>c) p.(Leu712Pro) Less severe Unknown (disease-associated) Positive 4
Variant info Patients:1 exon 15 c.2136_2137del r.(2136_2137del) p.(Phe713Profs*23) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 15 c.2140del r.(2140del) p.(His714Thrfs*50) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:1 exon 15 c.2146G>C r.(2146g>c) p.(Ala716Pro) potentially less severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 exon 15 c.2152G>A r.(2152g>a) p.(Val718Ile) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 15 c.2153_2156delinsACGCCG r.(2153_2156delinsacgccg) p.(Val718Aspfs*47) very severe Classic infantile Negative 1
Variant info Patients:0 exon 15 c.2154C>T r.(2154c>u) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 15 c.2161dup r.(2161dup) p.(Glu721Glyfs*16) Very severe Unknown Negative 0
Variant info Patients:1 exon 15 c.2161G>T r.(2161g>u) p.(Glu721*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 15 c.2167G>A r.(2167g>a) p.(Val723Met) Unknown Childhood Positive 2
Variant info Patients:3 exon 15 c.2171C>A r.(2171c>a) p.(Ala724Asp) Unknown Classic infantile Positive 3
Variant info Patients:8 exon 15 c.2173C>T r.(2173c>u) p.(Arg725Trp) Less severe Childhood or Adult Positive 8
Variant info Patients:1 exon 15 c.2174G>C r.(2174g>c) p.(Arg725Pro) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 15 c.2174G>A r.(2174g>a) p.(Arg725Gln) unknown Unknown (found only in NBS) Positive 1
Variant info Patients:2 exon 15 c.2177C>G r.(2177c>g) p.(Pro726Arg) Unknown Childhood Positive 2
Variant info Patients:3 exon 15 c.2182_2183del r.(2182_2183del) p.(Phe728Profs*8) very severe Unknown (disease-associated) Negative 3
Variant info Patients:2 exon 15 c.2185del r.(2185del) p.(Leu729Trpfs*35) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 15 c.2188G>T r.(2188g>u) p.(Glu730*) Very severe Classic infantile Negative 2
Variant info Patients:0 intron 15 c.2189+1G>A r.spl p.? Very severe Unknown Unknown 0
Variant info Patients:2 intron 15 c.2189+3G>C r.(spl?) p.? Very severe Unknown (disease-associated) Unknown 2
Variant info Patients:0 intron 15 c.2189+95C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+263G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 15 c.2189+459_3405del r.spl p.? Very severe Classic infantile Positive 2
Variant info Patients:0 intron 15 c.2189+510T>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+607G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+616T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+723G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+729A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+859A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+884G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+1153A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+1201C>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+1208A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+1263A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+1290A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+1600C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-1531G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-1463G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-1139A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-1005A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-686G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-647G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-536G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-490G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-444A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-336C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 15 c.2190-345A>G r.? p.? potentially less severe Unknown (disease-associated) Unknown 2
Variant info Patients:0 intron 15 c.2190-53C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 16 c.2205dup r.(2205dup) p.(Ser736*) very severe Classic infantile Negative 1
Variant info Patients:1 exon 16 c.2210C>A r.(2210c>a) p.(Thr737Asn) Potentially less severe Classic infantile Positive 1
Variant info Patients:2 exon 16 c.2213G>A r.(2213g>a) p.(Trp738*) very severe Classic infantile Negative 2
Variant info Patients:2 exon 16 c.2214G>A r.(2214g>a) p.(Trp738*) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:2 exon 16 c.2219_2220del r.(2219_2220del) p.(Val740Glyfs*55) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:1 exon 16 c.2221G>A r.(2221g>a) p.(Asp741Asn) potentially less severe Classic infantile Positive 1
Variant info Patients:0 exon 16 c.2222A>T r.(2222a>u) p.(Asp741Val) potentially less severe Unknown (disease-associated) Unknown 0
Variant info Patients:0 exon 16 c.2227C>A r.(2227c>a) p.(Gln743Lys) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 16 c.2227C>T r.(2227c>u) p.(Gln743*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 16 c.2228A>G r.(2228a>g) p.(Gln743Arg) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 16 c.2234T>C r.(2234u>c) p.(Leu745Pro) potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 16 c.2235dup r.(2235dupg) p.(Trp746Valfs*50) very severe Classic infantile Unknown 1
Variant info Patients:3 exon 16 c.2236T>C r.(2236u>c) p.(Trp746Arg) Potentially less severe Classic infantile Positive 3
Variant info Patients:0 exon 16 c.2236T>G r.(2236u>g) p.(Trp746Gly) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 16 c.2237G>C r.(2237g>c) p.(Trp746Ser) Potentially less severe Childhood Positive 1
Variant info Patients:1 exon 16 c.2237G>T r.(2237g>u) p.(Trp746Leu) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:31 exon 16 c.2237G>A r.(2237g>a) p.(Trp746*) Very severe Classic infantile Negative 31
Variant info Patients:37 exon 16 c.2238G>C r.(2238g>c) p.(Trp746Cys) Potentially mild Childhood or adult Unknown 37
Variant info Patients:6 exon 16 c.2238G>A r.(2238g>a) p.(Trp746*) Very severe Classic infantile Negative 6
Variant info Patients:1 exon 16 c.2240G>A r.(2240g>a) p.(Gly747Glu) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:10 exon 16 c.2242dup r.(2242dup) p.(Glu748Glyfs*48) Very severe Classic infantile Negative 10
Variant info Patients:0 exon 16 c.2242G>T r.(2242g>u) p.(Glu748*) Very severe Unknown Negative 0
Variant info Patients:1 exon 16 c.2255_2257del r.(2255_2257del) p.(Ile752del) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:2 exon 16 c.2261dup r.(2261dup) p.(Val755Serfs*41) very severe Unknown (disease-associated) Negative 2
Variant info Patients:3 exon 16 c.2269C>T r.(2269c>u) p.(Gln757*) Very severe Classic infantile Negative 3
Variant info Patients:1 exon 16 c.2274dup r.(2274dup) p.(Gly759Argfs*37) Very severe Classic infantile Negative 1
Variant info Patients:2 exon 16 c.2276G>C r.(2276g>c) p.(Gly759Ala) Potentially mild Unknown (disease-associated) Positive 2
Variant info Patients:2 exon 16 c.2281delinsAT r.(2281delinsau) p.(Ala761Ilefs*35) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:0 exon 16 c.2284G>A r.(2284g>a) p.(Glu762Lys) Unknown Unknown Unknown 0
Variant info Patients:0 exon 16 c.2294G>A r.(2294g>a) p.(Gly765Asp) potentially less severe Classic infantile Positive 0
Variant info Patients:0 exon 16 c.2296T>A r.(2296u>a) p.(Tyr766Asn) potentially less severe Classic infantile Positive 0
Variant info Patients: exon 16 c.2297A>C r.(2297a>c) p.(Tyr766Ser) Potentially less severe Classic infantile Positive
Variant info Patients:3 exon 16 c.2297A>G r.(2297a>g) p.(Tyr766Cys) Potentially less severe Childhood or adult Positive 3
Variant info Patients:3 exon 16 c.2298_2301delinsAAAGTA r.(2298_2301delinsaaagua) p.(Tyr766*) Very severe Unknown (disease-associated) Negative 3
Variant info Patients:2 exon 16 c.2300del r.(2300del) p.(Phe767Serfs*14) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:1 exon 16 c.2303C>G r.(2303c>g) p.(Pro768Arg) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 16 c.2303C>T r.(2303c>u) p.(Pro768Leu) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 16 c.2304del r.(2304del) p.(Leu769Trpfs*12) very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 16 c.2314T>C r.(2314u>c) p.(Trp772Arg) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:0 exon 16 c.2320G>A r.(2320g>a) p.(Asp774Asn) potentially less severe Unknown (disease-associated) Unknown 0
Variant info Patients:1 exon 16 c.2322_2323insggtgagtctgcaaacggggagt r.(2322_2323insggugagucugcaaacggggagu) p.(Asp774Glufs*14) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 16 c.2326C>T r.(2326c>u) p.(Gln776*) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:2 intron 16 c.2331+1G>A r.spl p.? Very severe Unknown (disease-associated) Unknown 2
Variant info Patients:2 intron 16 c.2331+2T>C r.2316_2331del p.(Tyr773fs*3) Very severe Classic infantile Unknown 2
Variant info Patients:8 intron 16 c.2331+2T>A r.[2315_2331delins2332-109_2332-1 ,2315_2331del] p.[Trp772Cysfs*40, Trp772Cysfs*18] Very severe Classic infantile Negative 8
Variant info Patients:1 intron 16 c.2331+4A>G r.(spl?) p.? Less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 intron 16 c.2331+5G>C r.(spl?) p.? very severe Classic infantile Unknown 1
Variant info Patients:0 intron 16 c.2331+20G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 16 c.2331+24T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 16 c.2331+102del r.?) p.? presumably non pathogenic Unknown (disease-associated) Positive 1
Variant info Patients:0 intron 16 c.2331+151C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 16 c.2332-198A>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 17 c.2334_2335dup r.(2334_2335dup) p.(Pro779Argfs*3) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 exon 17 c.2338G>A r.2338g>a p.(Val780Ile) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 17 c.2357dup r.(2357dup) p.(Pro788Thrfs*8) Very severe Unknown Negative 0
Variant info Patients:1 exon 17 c.2373_2376delinsTGCTCA r.(2373_2376delinsugcuca) p.(Pro793Hisfs*14) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 17 c.2377_2378insAC r.(2377_2378insAC) p.(Pro793Hisfs*14) very severe Classic infantile Unknown 1
Variant info Patients:2 exon 17 c.2380del r.(2380del) p.(Arg794fs*12) Very severe Classic infantile Negative 2
Variant info Patients:1 exon 17 c.2380dup r.(2380dup) p.(Arg794Profs*2) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 17 c.2385del r.(2385del) p.(Glu795Aspfs*11) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 17 c.2395C>G r.(2395c>g) p.(His799Asp) Unknown Unknown Positive 0
Variant info Patients:0 exon 17 c.2395C>T r.(2395c>u) p.(His799Tyr) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 17 c.2407_2412del r.(2407_2412del) p.(Gln803_Trp804del) Unknown Childhood Positive 1
Variant info Patients:1 exon 17 c.2407C>T r.(2407c>u) p.(Gln803*) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 17 c.2408_2426del r.(2408_2426del) p.(Gln803Profs*39) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 17 c.2411G>A r.(2411g>a) p.(Trp804*) very severe Classic infantile Unknown 1
Variant info Patients:2 exon 17 c.2431dup r.(2431dup) p.(Leu811Profs*73) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 17 c.2431del r.(2431del) p.(Leu811Trpfs*37) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:3 exon 17 c.2432del r.(2432del) p.(Leu811fs*36) Very severe Classic infantile Negative 3
Variant info Patients:1 exon 17 c.2439dup r.(2439dup) p.(Ile814Hisfs*70) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 17 c.2446G>A r.2446g>a p.(Val816Ile) Non-pathogenic Unknown Positive 0
Variant info Patients:4 exon 17 c.2456G>C r.(2456g>c) p.(Arg819Pro) Potentially less severe Unknown (disease-associated) Positive 4
Variant info Patients:3 exon 17 c.2459_2461del r.(2459_2461del) p.(Ala820del) Potentially less severe Unknown (disease-associated) Positive 3
Variant info Patients:2 exon 17 c.2460dup r.(2460dup) p.(Gly821Trpfs*63) very severe Unknown (disease-associated) Negative 2
Variant info Patients:1 exon 17 c.2474C>G r.(2474c>g) p.(Pro825Arg) Potentially less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 17 c.2480A>G r.(2480a>g) p.(Gln827Arg) potentially less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 intron 17 c.2481+1G>A r.spl p.? Very severe Childhood Unknown 1
Variant info Patients:1 intron 17 c.2481+2T>C r.[2331_2332ins2332-109_2332-1; 2462_2481del, 2462_2481del, 2332_2481del] p.[Val778AlaSerTer, Tyr822Profs*55, Val778_Gln827del] Very severe Unknown (disease-associated) Unknown 1
Variant info Patients:116 intron 17 c.2481+110_2646+39del r.2482_2646del p.(Gly828_Asn882del) Very severe Classic infantile Positive 116
Variant info Patients:0 intron 17 c.2482-132C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 17 c.2482-5T>C r.? p.? unknown Unknown (found only in NBS) Positive 1
Variant info Patients:1 intron 17 c.2482-2A>G r.spl p.? unknown Unknown (found only in NBS) Unknown 1
Variant info Patients:4 exon 18 c.2495_2496del r.(2495_2496del) p.(Thr832Asnfs*51) Very severe Classic infantile Negative 4
Variant info Patients:7 exon 18 c.2501_2502del r.(2501_2502del) p.(Thr834Argfs*49) Very severe Classic infantile Negative 7
Variant info Patients:4 exon 18 c.2512C>T r.(2512c>u) p.(Gln838*) Very severe Classic infantile Negative 4
Variant info Patients:0 exon 18 c.2515C>T r.(2515c>u) p.(Gln839*) very severe Unknown (disease-associated) Negative 0
Variant info Patients:1 exon 18 c.2528T>C r.(2528u>c) p.(Leu843Pro) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:5 exon 18 c.2530_2541del r.(2530_2541del) p.(Arg844_Leu847del) Potentially less severe Unknown (disease-associated) Positive 5
Variant info Patients:1 exon 18 c.2537C>A r.(2537c>a) p.(Ala846Asp) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 18 c.2544del r.(2544del) p.(Lys849Argfs*38) very severe Unknown (disease-associated) Negative 0
Variant info Patients:0 exon 18 c.2553G>A r.2553g>a p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:77 exon 18 c.2560C>T r.(2560c>u) p.(Arg854*) Very severe Classic infantile Negative 77
Variant info Patients:1 exon 18 c.2563G>C r.(2563g>c) p.(Gly855Arg) Potentially less severe Classic infantile Positive 1
Variant info Patients:3 exon 18 c.2578G>A r.(2578g>a) p.(Asp860Asn) Potentially less severe Unknown (disease-associated) Positive 3
Variant info Patients:2 exon 18 c.2584G>A r.(2584g>a) p.(Gly862Arg) Potentially less severe Childhood Positive 2
Variant info Patients:1 exon 18 c.2585del r.(2585del) p.(Gly862Glufs*25) very severe Classic infantile Negative 1
Variant info Patients:1 exon 18 c.2596del r.(2596del) p.(Glu866Lysfs*21) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 18 c.2600_2604delinsA r.(2600_2604delinsa) p.(Val867Glufs*19) Very severe Classic infantile or Childhood Negative 1