Pompe disease GAA variant database
  Sort by   Displaying 1 - 911 of 911

 Link to variant    Link to patients Location DNA nomenclature RNA nomenclature Protein nomenclature Predicted severity Phenotype with null allele CRIM status
Variant info
GAA and part of CCDC40
Ch37/hg19:g.78,056,048_ 78,094,854delins14bp r.(-212_*551del) p.(0) Very severe Classic infantile Negative
Variant info
CCDC40 and GAA exon 1
Ch37/hg19 chr17:78,059,821_ 78,076,592del r.0 p.? very severe Classic infantile Unknown
Variant info
exon 1A, 5' UTR
c.-338C>G r.(-338c>g) p.? Non-pathogenic Unknown Positive
Variant info
exon 1A, 5' UTR
c.-260G>C r.(-260g>c) p.? Non-pathogenic Unknown Positive
Variant info
exon 1A, 5' UTR
c.-178G>A r.(-178g>a) p.? Non-pathogenic Unknown Positive
Variant info
intron 1A
c.-113+2T>C r.spl p.? Very severe Unknown (disease-associated) Unknown
Variant info
exon 1B, 5' UTR
c.-82G>C r.(-82g>c) p.? Unknown Unknown Positive
Variant info
exon 1B, 5' UTR
c.-75C>G r.(-75c>g) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-33+219G>C r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-33+316C>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-33+317C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-33+671A>C r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-33+757G>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-33+903A>C r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-33+1104A>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-33+1172G>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-33+1190G>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-33+1309T>C r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-32-1298G>C r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-32-1124C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-32-884T>C r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-32-793C>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-32-721G>C r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-32-686A>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-32-640C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-32-521G>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-32-494C>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-32-462G>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 1B
c.-32-17_-32-10delins(30) r.? p.? very severe Classic infantile Unknown
Variant info
intron 1B
c.-32-13T>G r.[=,-32_546del,-32_486del] p.[=,0] Potentially mild Childhood or Adult Positive
Variant info
intron 1B
c.-32-3C>G r.(=) p.? Less severe Unknown (disease-associated) Unknown
Variant info
intron 1B
c.-32-3C>A r.(=) p.? Less severe Childhood Unknown
Variant info
intron 1B
c.-32-2A>G r.spl p.? Very severe Childhood or Adult Unknown
Variant info
intron 1B
c.-32-1G>C r.spl p.? very severe Unknown (disease-associated) Unknown
Variant info
exon 2
c.1A>T r.(1a>u) p.(0) Potentially less severe Unknown Negative
Variant info
exon 2
c.1A>G r.(1a>g) p.(0) Very severe Classic infantile or Childhood Negative
Variant info
exon 2
c.2T>C r.(2u>c) p.(0) Potentially less severe Childhood Negative
Variant info
exon 2
c.3G>A r.(3g>a) p.(0) Very severe Classic infantile or Childhood Negative
Variant info
exon 2
c.18_25del r.(18_25del) p.(Cys8Profs*24) Very severe Classic infantile Negative
Variant info
exon 2
c.25del r.(25del) p.(Ser9Profs*34) Very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.40_47del r.(40_47del) p.(Ala14Argfs*18) very severe Classic infantile Negative
Variant info
exon 2
c.32G>A r.(32g>a) p.(Arg11Gln) Non-pathogenic Unknown Positive
Variant info
exon 2
c.54C>T r.(54c>u) p.(=) Non-pathogenic Unknown Positive
Variant info
exon 2
c.104T>C r.(104u>c) p.(Phe35Ser) Potentially less severe Classic infantile Positive
Variant info
exon 2
c.118C>T r.(118c>u) p.(Arg40*) Very severe Classic infantile Negative
Variant info
exon 2
c.136T>C r.(136u>c) p.(Ser46Pro) Non-pathogenic Classic infantile Positive
Variant info
exon 2
c.147_859-12del r.spl p.? Very severe Classic infantile Negative
Variant info
exon 2
c.169C>T r.(169c>u) p.(Gln57*) very severe Classic infantile Negative
Variant info
exon 2
c.172C>T r.(172c>u) p.(Gln58*) Very severe Classic infantile Negative
Variant info
exon 2
c.186_196dup r.(186_196dup) p.(Arg66Hisfs*80) Very severe Unknown Negative
Variant info
exon 2
c.205C>T r.(205c>u) p.(Gln69*) very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.199G>A r.(199g>a) p.(Asp67Asn) Non-pathogenic Unknown Positive
Variant info
exon 2
c.221G>A r.(221g>a) p.(Arg74His) Non-pathogenic Unknown Positive
Variant info
exon 2
c.236_246del r.(236_246del) p.(Pro79Argfs*13) Very severe Classic infantile Negative
Variant info
exon 2
c.241C>T r.(241c>u) p.(Gln81*) Very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.258dup r.(258dup) p.(Asn87Glnfs*9) Very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.258C>A r.(258c>a) p.? Unknown Unknown (disease-associated) Positive
Variant info
exon 2
c.265C>T r.(265c>u) p.(Arg89Cys) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.266G>A r.(266g>a) p.(Arg89His) Presumably non-pathogenic Classic infantile Positive
Variant info
exon 2
c.271G>A r.271g>a p.(Asp91Asn) Presumably non-pathogenic Unknown (disease-associated) Positive
Variant info
exon 2
c.271del r.(271del) p.(Asp91Ilefs*51) Very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.295_314del r.(295_314del) p.(Thr99Profs*40) very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.307T>C r.(307u>c) p.(Cys103Arg) Potentially less severe Unknown Positive
Variant info
exon 2
c.307T>G r.(307u>g) p.(Cys103Gly) Potentially less severe Classic infantile Positive
Variant info
exon 2
c.309C>G r.(309c>g) p.(Cys103Trp) Potentially less severe Unknown Positive
Variant info
exon 2
c.309C>A r.(309c>a) p.(Cys103*) Very severe Classic infantile Negative
Variant info
exon 2
c.317G>A r.(317g>a) p.(Arg106His) potentially less severe Unknown (found only in NBS) Positive
Variant info
exon 2
c.322T>G r.(322u>g) p.(Cys108Gly) Potentially less severe Unknown Unknown
Variant info
exon 2
c.323G>A r.(323g>a) p.(Cys108Ser) Unknown Unknown (disease-associated) Positive
Variant info
exon 2
c.323G>C r.(323g>c) p.(Cys108Ser) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.324T>C r.324u>c p.(=) Non-pathogenic Unknown Positive
Variant info
exon 2
c.340_341insT r.(340_341insu) p.(Lys114Ilefs*32) Very severe Classic infantile Negative
Variant info
exon 2
c.343C>T r.(343c>u) p.(Gln115*) Very severe Childhood or Adult Negative
Variant info
exon 2
c.352C>T r.(352c>u) p.(Gln118*) Very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.363G>A r.(363g>a) p.(=) Non-pathogenic Unknown Positive
Variant info
exon 2
c.364A>G r.(364a>g) p.(Met122Val) Less severe Unknown (disease-associated) Unknown
Variant info
exon 2
c.365del r.(365del) p.(Met122Argfs*20) very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.365T>A r.(365u>a) p.(Met122Lys) unknown Unknown (found only in NBS) Positive
Variant info
exon 2
c.377G>A r.(377g>a) p.(Trp126*) Very severe Classic infantile Negative
Variant info
exon 2
c.378G>A r.(378g>a) p.(Trp126*) Very severe Classic infantile Negative
Variant info
exon 2
c.379_380del r.(379_380del) p.(Cys127Leufs*18) Very severe Classic infantile Negative
Variant info
exon 2
c.380G>A r.(380g>a) p.(Cys127Tyr) Potentially less severe Unknown (disease-associated) Unknown
Variant info
exon 2
c.380G>T r.(380g>u) p.(Cys127Phe) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.397T>G r.(397u>g) p.(Tyr133Asp) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.399C>A r.(399c>a) p.(Tyr133*) Very severe Classic infantile Negative
Variant info
exon 2
c.421C>A r.(421c>a) p.(Leu141Met) Potentially less severe Classic infantile Positive
Variant info
exon 2
c.424_440del r.(424_440del) p.(Ser142Lleufs*29) Very severe Unknown (found only in NBS) Negative
Variant info
exon 2
c.437del r.(437del) p.(Met146Argfs*7) very severe Classic infantile Negative
Variant info
exon 2
c.444C>G r.(444c>g) p.(Tyr148*) Very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.445A>C r.(445a>c) p.(Thr149Pro) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.447G>A r.(447g>a) p.(=) Non-pathogenic Unknown Positive
Variant info
exon 2
c.460_465del r.(460_465del) p.(Arg154_Thr155del) Unknown Classic infantile Positive
Variant info
exon 2
c.461G>C r.(461g>c) p.(Arg154Pro) Less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.461_469del r.(461_469del) p.(Arg154_Thr156del) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.482_483del r.(482_483del) p.(Pro161Glnfs*15) Very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.483dup r.(483dup) p.(Lys162Glnfs*15) Very severe Classic infantile Negative
Variant info
exon 2
c.484A>C r.(484a>c) p.(Lys162Gln) Potentially less severe Classic infantile Unknown
Variant info
exon 2
c.502C>T r.(502c>u) p.(Arg168Trp) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.503G>A r.(503g>a) p.(Arg168Gln) Unknown Childhood Unknown
Variant info
exon 2
c.503G>C r.(503g>c) p.(Arg168Pro) Unknown Childhood Positive
Variant info
exon 2
c.505C>A r.(505c>a) p.(Leu169Met) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.506T>C r.(506u>c) p.(Leu169Pro) Unknown Classic infantile Positive
Variant info
exon 2
c.510C>T r.(510c>u) p.(=) Non-pathogenic Unknown Positive
Variant info
exon 2
c.517_519del r.(517_519del) p.(Met173del) Potentially less severe Childhood Positive
Variant info
exon 2
c.525del r.(525del) p.(Glu176Argfs*45) Very severe Classic infantile Negative
Variant info
exon 2
c.525_526del r.(525_526del) p.(Asn177Profs*11) Very severe Classic infantile Negative
Variant info
exon 2
c.532C>T r.(532c>u) p.(Arg178Cys) Non-pathogenic Unknown Positive
Variant info
exon 2
c.533G>A r.(533g>a) p.(Arg178His) Unknown Unknown (found only in NBS) Positive
Variant info
exon 2
c.541_545del r.(541_545del) p.(Phe181Aspfs*6) very severe Classic infantile Unknown
Variant info
exon 2
c.546G>A r.[(546g>a), r.(spl?)] p.[(=), p.?] Potentially mild Adult Unknown
Variant info
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
Variant info
exon 2
c.546G>C r.[(546g>c), r.(spl?)] p.[(=), p.?] Potentially mild Unknown (disease-associated) Unknown
Variant info
intron 2
c.546+1G>T r.spl p.? Very severe Unknown (disease-associated) Unknown
Variant info
intron 2
c.546+2T>C r.spl p.? Very severe Classic infantile Negative
Variant info
intron 2
c.546+2_546+5del r.spl p.? Very severe Classic infantile Negative
Variant info
intron 2
c.546+5G>T r.(spl?) p.? Unknown Unknown (found only in NBS) Unknown
Variant info
intron 2
c.546+24G>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 2
c.546+45G>C r.(=) p.? Unknown Unknown Positive
Variant info
intron 2
c.546+293G>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 2
c.547-243C>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 2
c.547-238T>C r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 2
c.547-67C>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 2
c.547-39T>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 2
c.547-4C>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 2
c.547-1G>C r.spl p.? very severe Unknown (disease-associated) Unknown
Variant info
exon 3
c.568C>T r.(568c>u) p.(Arg190Cys) potentially less severe Unknown (disease-associated) Unknown
Variant info
exon 3
c.569G>A r.(569g>a) p.(Arg190His) Less severe Childhood Positive
Variant info
exon 3
c.572A>G r.(572a>g) p.(Tyr191Cys) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 3
c.573C>A r.(573c>a) p.(Tyr191*) Very severe Classic infantile Negative
Variant info
exon 3
c.596A>G r.(596a>g) p.(His199Arg) Non-pathogenic Unknown Positive
Variant info
exon 3
c.623T>C r.(623u>c) p.(Leu208Pro) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 3
c.634G>T r.(634g>u) p.(Glu212*) Very severe Unknown (disease-associated) Negative
Variant info
exon 3
c.642C>T r.642c>u p.(=) Non-pathogenic Unknown Positive
Variant info
exon 3
c.650C>T r.(650c>u) p.(Pro217Leu) Less severe Classic infantile Positive
Variant info
exon 3
c.655G>A r.(655g>a) p.(Gly219Arg) Potentially less severe Classic infantile Positive
Variant info
exon 3
c.658G>T r.(658g>u) p.(Val220Leu) Non-pathogenic Unknown Positive
Variant info
exon 3
c.664G>A r.(664g>a) p.(Val222Met) Non-pathogenic Unknown Positive
Variant info
exon 3
c.665T>G r.(665u>g) p.(Val222Gly) potentially less severe Classic infantile Positive
Variant info
exon 3
c.668G>A r.668g>a p.(Arg223His) Non-pathogenic Unknown Positive
Variant info
exon 3
c.670C>T r.(670c>u) p.(Arg224Trp) Less severe Classic infantile or Childhood Positive
Variant info
exon 3
c.671G>C r.(671g>c) p.(Arg224Pro) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 3
c.671G>A r.(671g>a) p.(Arg224Gln) Potentially less severe Adult Positive
Variant info
exon 3
c.685_686insCGGC r.(685_686inscggc) p.(Arg229Profs*102) Very severe Classic infantile Negative
Variant info
exon 3
c.686G>C r.(686g>c) p.(Arg229Pro) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 3
c.692T>C r.(692u>c) p.(Leu231Pro) very severe Unknown (disease-associated) Unknown
Variant info
intron 3
c.692+1G>C r.spl p.? Very severe Unknown (disease-associated) Unknown
Variant info
intron 3
c.692+1G>T r.spl p.? very severe Unknown (disease-associated) Unknown
Variant info
intron 3
c.692+1G>A r.spl p.? Very severe Classic infantile Unknown
Variant info
intron 3
c.692+5G>T r.(spl?) p.? Less severe Childhood or adult Unknown
Variant info
exon 3
c.691C>T r.(691c>u) p.(Arg190Cys) very severe Unknown (disease-associated) Unknown
Variant info
intron 3
c.692+38C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.692+144A>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.692+509T>C r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.692+674G>C r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.692+751T>C r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.693-586G>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.693-585T>C r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.693-559C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.693-491G>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.693-441C>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.693-434C>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.693-414C>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.693-413A>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.693-216T>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.693-94C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.693-78C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.693-49C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 3
c.693-2A>C r.spl p.? very severe Classic infantile Unknown
Variant info
intron 3
c.693-1G>C r.spl p.? very severe Unknown (disease-associated) Unknown
Variant info
exon 4
c.701C>G r.(701c>g) p.(Thr234Arg) Potentially less severe Unknown Positive
Variant info
exon 4
c.701C>A r.(701c>a) p.(Thr234Lys) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 4
c.705G>A r.(705g>a) p.(=) Unknown Unknown (found only in NBS) Positive
Variant info
exon 4
c.710C>T r.(710c>u) p.(Ala237Val) Unknown Adult Positive
Variant info
exon 4
c.715_716del r.(715_716del) p.(Leu239Valfs*90) very severe Unknown (disease-associated) Negative
Variant info
exon 4
c.716del r.(716del) p.(Leu239Argfs*29) Very severe Classic infantile Negative
Variant info
exon 4
c.719T>C r.(719u>c) p.(Phe240Ser) Unknown Adult Positive
Variant info
exon 4
c.722_723del r.(722_723del) p.(Phe241Cysfs*88) Very severe Classic infantile Negative
Variant info
exon 4
c.725C>T r.(725c>u) p.(Ala242Val) Potentially mild Unknown Positive
Variant info
exon 4
c.730C>T r.(730c>u) p.(Gln244*) very severe Classic infantile Unknown
Variant info
exon 4
c.736del r.(736del) p.(Leu246Phefs*22) very severe Unknown (disease-associated) Negative
Variant info
exon 4
c.737T>G r.(737u>g) p.(Leu246Arg) Unknown Unknown (disease-associated) Positive
Variant info
exon 4
c.742del r.(742del) p.(Leu248Profs*20) Very severe Classic infantile Negative
Variant info
exon 4
c.743T>G r.(743u>g) p.(Leu248Arg) Unknown Unknown (disease-associated) Positive
Variant info
exon 4
c.743T>C r.(743u>c) p.(Leu248Pro) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 4
c.[752C>T; c.761C>T] r.[(752c>u); (761c>u)] p.[(Ser251Leu); (Ser254Leu)] Presumably non-pathogenic Unknown (disease-associated) Positive
Variant info
exon 4
c.756_757insT r.(756_757insu) p.(Pro253Serfs*77) very severe Unknown (disease-associated) Unknown
Variant info
exon 4
c.759del r.(759del) p.(Ser254Argfs*14) very severe Unknown (disease-associated) Negative
Variant info
exon 4
c.763C>T r.(763c>u) p.(Gln255*) Very severe Unknown (disease-associated) Negative
Variant info
exon 4
c.766_784del r.(766_784del) p.(Tyr256Serfs*6) very severe Unknown (disease-associated) Unknown
Variant info
exon 4
c.766_785delinsC r.(766_785delinsc) p.(Tyr256Argfs*6) Very severe Unknown (disease-associated) Negative
Variant info
exon 4
c.768dup r.(768dup) p.(Ile257Tyrfs*73) Very severe Unknown Negative
Variant info
exon 4
c.776G>T r.(776g>u) p.(Gly259Val) Potentially less severe Unknown Positive
Variant info
exon 4
c.781G>A r.(781g>a) p.(Ala261Thr) potentially less severe Classic infantile Positive
Variant info
exon 4
c.784G>A r.(784g>a) p.(Glu262Lys) Potentially less severe Classic infantile Positive
Variant info
exon 4
c.784G>C r.(784g>c) p.(Glu262Gln) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 4
c.794del r.(794del) p.(Ser265Ilefs*3) Very severe Classic infantile Negative
Variant info
exon 4
c.796C>T r.(796c>u) p.(Pro266Ser) Potentially mild Classic infantile Positive
Variant info
exon 4
c.796C>A r.(796c>a) p.(Pro266Thr) Potentially less severe Childhood Unknown
Variant info
exon 4
c.799_803delinsA r.(799_803delinsa) p.(Leu267Serfs*46) very severe Unknown (disease-associated) Unknown
Variant info
exon 4
c.811A>G r.(811a>g) p.(Thr271Ala) Non-pathogenic Unknown (found only in NBS) Positive
Variant info
exon 4
c.827_845del r.(827_845del) p.(Ile276Thrfs*32) Very severe Classic infantile Negative
Variant info
exon 4
c.829_851del r.(829_851del) p.(Thr277Alafs*45) Very severe Classic infantile Negative
Variant info
exon 4
c.836G>A r.(836g>a) p.(Trp279*) Very severe Unknown (disease-associated) Negative
Variant info
exon 4
c.837G>C r.(837g>c) p.(Trp279Cys) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 4
c.841C>T r.(841c>u) p.(Arg281Trp) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 4
c.844G>C r.(844g>c) p.(Asp282His) Unknown Unknown (disease-associated) Positive
Variant info
exon 4
c.852G>A r.(852g>a) p.(=) Non-pathogenic Unknown Positive
Variant info
exon 4
c.853C>T r.(853c>u) p.(Pro285Ser) Less severe Childhood or Adult Positive
Variant info
exon 4
c.854C>G r.(854c>g) p.(Pro285Arg) Potentially mild Childhood Positive
Variant info
intron 4
c.858+2T>A r.spl p.? Very severe Classic infantile or Childhood Negative
Variant info
intron 4
c.858+5_858+6ins7 r.(spl?) p.? Unknown Unknown Positive
Variant info
intron 4
c.858+6G>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 4
c.858+17_858+23del r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 4
c.858+20dup r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 4
c.858+21C>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 4
c.858+17_858+23dup r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 4
c.858+30T>C r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 4
c.858+37C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 4
c.859-2A>T r.spl p.? Very severe Classic infantile Unknown
Variant info
exon 5
c.861C>T r.(861c>u) p.(=) Potentially less severe Childhood Positive
Variant info
exon 5
c.868A>G r.(868a>g) p.(Asn290Asp) Non-pathogenic Unknown Positive
Variant info
exon 5
c.871C>T r.(871c>u) p.(Leu291Phe) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 5
c.872T>A r.(872u>a) p.(Leu291His) Less severe Unknown Positive
Variant info
exon 5
c.872T>C r.(872u>c) p.(Leu291Pro) Potentially less severe Classic infantile Positive
Variant info
exon 5
c.875A>G r.(875a>g) p.(Tyr292Cys) Potentially mild Classic infantile Positive
Variant info
exon 5
c.876C>G r.(876c>g) p.(Tyr292*) very severe Classic infantile Negative
Variant info
exon 5
c.877G>A r.(877g>a) p.(Gly293Arg) Potentially less severe Classic infantile Positive
Variant info
exon 5
c.878G>T r.(878g>u) p.(Gly293Val) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 5
c.883C>A r.(883c>a) p.(His295Asn) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 5
c.885C>G r.(885c>g) p.(His295Gln) Potentially mild Adult Unknown
Variant info
exon 5
c.893A>C r.(893a>c) p.(Tyr298Ser) Unknown Unknown (disease-associated) Positive
Variant info
exon 5
c.896T>G r.(896u>g) p.(Leu299Arg) Potentially less severe Classic infantile Positive
Variant info
exon 5
c.896T>C r.(896u>c) p.(Leu299Pro) Potentially less severe Classic infantile Positive
Variant info
exon 5
c.915G>A r.(915g>a) p.(=) Non-pathogenic Unknown (disease-associated) Positive
Variant info
exon 5
c.917C>T r.(917c>u) p.(Ser306Leu) Presumably non-pathogenic Unknown (disease-associated) Positive
Variant info
exon 5
c.921A>T r.921a>u p.(=) Non-pathogenic Unknown Positive
Variant info
exon 5
c.923A>C r.(923a>c) p.(His308Pro) Potentially less severe Classic infantile Positive
Variant info
exon 5
c.923A>T r.(923a>u) p.(His308Leu) Less severe Unknown (disease-associated) Positive
Variant info
exon 5
c.925G>A r.(925g>a) p.(Gly309Arg) Potentially less severe Classic infantile Positive
Variant info
exon 5
c.929T>G r.(929u>g) p.(Val310Gly) Less severe Unknown Positive
Variant info
exon 5
c.930_932del r.(930_932del) p.(Phe311del) Potentially less severe Classic infantile Positive
Variant info
exon 5
c.935T>G r.(935u>g) p.(Leu312Arg) Potentially less severe Classic infantile Positive
Variant info
exon 5
c.942C>A r.(942c>a) p.Asn314Lys Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 5
c.947A>T r.(947a>u) p.(Asn316Ile) Potentially less severe Unknown Positive
Variant info
exon 5
c.947A>G r.(947a>g) p.(Asn316Ser) potentially less severe Classic infantile Positive
Variant info
exon 5
c.950C>T r.(950c>u) p.(Ala317Val) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 5
c.953T>C r.(953u>c) p.(Met318Thr) Potentially less severe Classic infantile Positive
Variant info
exon 5
c.953T>A r.(953u>a) p.(Met318Lys) Potentially less severe Childhood Positive
Variant info
exon 5
c.955_955+1ins21 r.[(955_956ins21), (spl?)] p.? Unknown Unknown (disease-associated) Unknown
Variant info
intron 5
c.955+1G>A r.spl p.? very severe Classic infantile Unknown
Variant info
intron 5
c.955+155C>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 5
c.955+167C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 5
c.956-107G>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 5
c.955+2T>G r.spl p.? Very severe Unknown (disease-associated) Unknown
Variant info
intron 5
c.955+12G>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 5
c.956-84C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
exon 6
c.971C>T r.(971c>u) p.(Pro324Leu) Less severe Childhood Positive
Variant info
exon 6
c.971dup r.(971dup) p.(Pro324Argfs*68) very severe Classic infantile Negative
Variant info
exon 6
c.982_988del r.(982_988del) p.(Leu328Glyfs*62) very severe Classic infantile Unknown
Variant info
exon 6
c.983T>C r.(983u>c) p.(Leu328Pro) Potentially less severe Classic infantile Positive
Variant info
exon 6
c.988T>G r.(988u>g) p.(Trp330Gly) Potentially less severe Classic infantile Positive
Variant info
exon 6
c.989G>A r.(989g>a) p.(Trp330*) Very severe Unknown (disease-associated) Negative
Variant info
exon 6
c.994_995insTT r.(994_995insuu) p.(Ser332Phefs*61) very severe Unknown (disease-associated) Negative
Variant info
exon 6
c.998C>A r.(998c>a) p.(Thr333Lys) Unknown Classic infantile Positive
Variant info
exon 6
c.1000G>A r.(1000g>a) p.(Gly334Ser) Unknown Childhood Positive
Variant info
exon 6
c.1000G>T r.(1000g>u) p.(Gly334Ser) potentially less severe Classic infantile Unknown
Variant info
exon 6
c.1003G>A r.(1003g>a) p.(Gly335Arg) Potentially less severe Classic infantile Positive
Variant info
exon 6
c.1004G>A  r.(1004g>a ) p.(Gly335Glu) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 6
c.1004_1005dup r.(1004_1005dup) p.(Ile336Glyfs*57) very severe Unknown (disease-associated) Negative
Variant info
exon 6
c.1040C>G r.(1040c>g) p.(Pro347Arg) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 6
c.1047del r.(1047del) p.(Ser349Argfs*43) very severe Unknown (disease-associated) Negative
Variant info
exon 6
c.1048G>A r.(1048g>a) p.(Val350Met) Unknown Unknown (disease-associated) Positive
Variant info
exon 6
c.1051del r.(1051del) p.(Val351Cysfs*41) Very severe Unknown (disease-associated) Negative
Variant info
exon 6
c.1054C>T r.(1054c>u) p.(Gln352*) very severe Unknown (found only in NBS) Negative
Variant info
exon 6
c.1057C>T r.(1057c>u) p.(Gln353*) very severe Unknown (disease-associated) Negative
Variant info
exon 6
c.1057del r.(1057del) p.(Gln353Serfs*39) very severe Unknown (disease-associated) Negative
Variant info
exon 6
c.1062C>G r.(1062c>g) p.(Tyr354*) Very severe Classic infantile Negative
Variant info
exon 6
c.1064T>C r.(1064u>c) p.(Leu355Pro) Potentially less severe Classic infantile or Childhood Positive
Variant info
exon 6
c.1075G>A r.[1075g>a, 1072_1075del] p.[(Gly359Arg), (Val358Aspfs*33)] Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 6
c.1075G>T r.[(1075g>u), r.(spl?)] p.[(Ily359*), p.?] Very severe Classic infantile Negative
Variant info
intron 6
c.1075+13C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 6
c.1076-22T>G r.(spl?) p.? Potentially mild Childhood Unknown
Variant info
intron 6
c.1076-1G>A r.spl p.? Very severe Unknown (disease-associated) Unknown
Variant info
intron 6
c.1076-1G>C r.spl p.? Very severe Classic infantile Unknown
Variant info
exon 7
c.1080C>G r.(1080c>g) p.(Tyr360*) Very severe Unknown (found only in NBS) Negative
Variant info
exon 7
c.1082C>T r.(1082c>u) p.(Pro361Leu) Potentially less severe Classic infantile Positive
Variant info
exon 7
c.1082C>A r.(1082c>a) p.(Pro361Arg) potentially less severe Unknown (found only in NBS) Positive
Variant info
exon 7
c.1099T>C r.(1099u>c) p.(Trp367Arg) Potentially less severe Classic infantile Positive
Variant info
exon 7
c.1099T>G r.(1099u>g) p.(Trp367Gly) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1100G>A r.(1100g>a) p.(Trp367*) Very severe Unknown (disease-associated) Negative
Variant info
exon 7
c.1101G>A r.(1101g>a) p.(Trp367*) Very severe Classic infantile Negative
Variant info
exon 7
c.1106T>C r.(1106u>c) p.(Leu369Pro) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1106T>A r.(1106u>a) p.(Leu369Gln) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1108G>A r.(1108g>a) p.(Gly370Ser) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1109G>A r.(1109g>a) p.(Gly370Asp) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1114C>G r.(1114c>g) p.(His372Asp) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1114C>T r.(1114c>u) p.(His372Tyr) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1115A>T r.(1115a>u) p.(His372Leu) Potentially less severe Classic infantile Positive
Variant info
exon 7
c.1118T>G r.(1118u>g ) p.(Leu373Arg) Unknown Unknown (disease-associated) Unknown
Variant info
exon 7
c.1120T>C r.(1120u>c) p.(Cys374Arg) Potentially less severe Classic infantile Positive
Variant info
exon 7
c.1121G>A r.(1121g>a) p.(Cys374Tyr) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1124G>T r.(1124g>u) p.(Arg375Leu) Potentially less severe Classic infantile Positive
Variant info
exon 7
c.1124G>A r.(1124g>a) p.(Arg375His) Unknown Unknown (disease-associated) Positive
Variant info
exon 7
c.1127_1130del r.(1127_1130del) p.(Trp376Serfs*15) very severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1128_1129delinsC r.(1128_1129delinsc) p.(Trp376Cysfs*16) Very severe Classic infantile Negative
Variant info
exon 7
c.1129G>C r.(1129g>c) p.(Gly377Arg) Potentially less severe Classic infantile Positive
Variant info
exon 7
c.1129G>A r.(1129g>a) p.(Gly377Ser) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1134C>G r.(1134c>g) p.(Tyr378*) Very severe Unknown (disease-associated) Negative
Variant info
exon 7
c.1143del r.(1143del) p.(Ala382Leufs*10) Very severe Unknown (disease-associated) Negative
Variant info
exon 7
c.1153del r.(1153del) p.(Arg385Alafs*7) very severe Unknown (disease-associated) Negative
Variant info
exon 7
c.1156C>T r.(1156c>u) p.(Gln386*) Very severe Unknown (disease-associated) Negative
Variant info
exon 7
c.1157dup r.(1157dup) p.(Val387Glyfs*119) Very severe Classic infantile Negative
Variant info
exon 7
c.1165del r.(1165del) p.(Glu389Argfs*3) Very severe Classic infantile or Childhood Negative
Variant info
exon 7
c.1171A>G r.(1171a>g) p.(Met391Val) Presumably non-pathogenic Unknown (disease-associated) Unknown
Variant info
exon 7
c.1190C>T r.(1190c>u) p.(Pro397Leu) Less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1192dup r.(1192dup) p.(Leu398Profs*108) Very severe Unknown (disease-associated) Negative
Variant info
exon 7
c.1192del r.(1192del) p.(Leu398Trpfs*42) very severe Unknown (disease-associated)
Variant info
exon 7
c.1193del r.(1193del) p.(Leu398Argfs*42) very severe Unknown (disease-associated) Negative
Variant info
intron 7
c.1194+2T>A r.spl p.? Very severe Unknown (disease-associated) Unknown
Variant info
intron 7
c.1194+2T>C r.spl p.? Very severe Classic infantile Unknown
Variant info
intron 7
c.1194+5G>A r.(spl?) p.? less severe Unknown (disease-associated) Unknown
Variant info
intron 7
c.1195-44C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 7
c.1195-19_2190-20del r.spl p.? Very severe Classic infantile Negative
Variant info
intron 7
c.1195-15G>A r.(=) p.? Unknown Unknown (disease-associated) Positive
Variant info
intron 7
c.1195-8G>A r.(spl?) p.? Unknown Childhood or Adult Unknown
Variant info
intron 7
c.1195-2A>G r.spl p.? Very severe Classic infantile Unknown
Variant info
exon 8
c.1199_1210del r.(1199_1210del) p.(Val400_Asn403del) Very severe Classic infantile Unknown
Variant info
exon 8
c.1201C>A r.(1201c>a) p.(Gln401Lys) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1202A>G r.(1202a>g) p.(Gln401Arg) Potentially less severe Classic infantile Positive
Variant info
exon 8
c.1203G>A r.1203g>a p.(=) Non-pathogenic Unknown Positive
Variant info
exon 8
c.1204T>C r.(1204u>c) p.(Trp402Arg) Potentially less severe Unknown Positive
Variant info
exon 8
c.1209C>G r.(1209c>g) p.(Asn403Lys) Potentially less severe Classic infantile Positive
Variant info
exon 8
c.1209C>A r.(1209c>a) p.(Asn403Lys) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1209del r.(1209del) p.(Asn403Lysfs*37) Very severe Classic infantile Negative
Variant info
exon 8
c.1210G>A r.(1210g>a) p.(Asp404Asn) Potentially less severe Classic infantile Positive
Variant info
exon 8
c.1211A>G r.(1211a>g) p.(Asp404Gly) Potentially less severe Classic infantile Positive
Variant info
exon 8
c.1211A>C r.(1211a>c) p.(Asp404Ala) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1211A>T r.(1211a>u) p.(Asp404Val) potentially less severe Classic infantile Positive
Variant info
exon 8
c.1212C>G r.(1212c>g) p.(Asp404Glu) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1214T>C r.(1214u>c) p.(Leu405Pro) Potentially less severe Classic infantile Positive
Variant info
exon 8
c.1216G>A r.(1216g>a) p.(Asp406Asn) potentially less severe Childhood Positive
Variant info
exon 8
c.1219T>C r.(1219u>c) p.(Tyr407His) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1220A>G r.(1220a>g) p.(Tyr407Cys) potentially less severe Unknown (found only in NBS) Positive
Variant info
exon 8
c.1221C>A r.(1221c>a) p.(Tyr407*) very severe Classic infantile Negative
Variant info
exon 8
c.1221del r.1221del p.(Tyr407*) very severe Unknown (disease-associated) Negative
Variant info
exon 8
c.1222A>G r.(1222a>g) p.(Met408Val) Potentially less severe Classic infantile Positive
Variant info
exon 8
c.1226_1227insG r.(1226_1227insg) p.(Asp409Glufs*97) very severe Classic infantile Negative
Variant info
exon 8
c.1229C>T r.(1229c>u) p.(Ser410Phe) Non-pathogenic Unknown Positive
Variant info
exon 8
c.1231del r.(1231del) p.(Arg411Glyfs*29) very severe Unknown (disease-associated) Negative
Variant info
exon 8
c.1239C>G r.(1239c>g) p.(Asp413Glu) Unknown Unknown (disease-associated) Positive
Variant info
exon 8
c.1240T>C r.(1240u>c) p.(Phe414Leu) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1241del r.(1241del) p.(Phe414Serfs*26) very severe Classic infantile Negative
Variant info
exon 8
c.1242C>A r.(1242c>a) p.(Phe414Leu) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1244C>T r.(1244c>u) p.(Thr415Met) potentially less severe Unknown (found only in NBS) Positive
Variant info
exon 8
c.1249A>C r.(1249a>c) p.(Asn417His) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1256A>T r.1256a>u p.(Asp419Val) Potentially mild Unknown (disease-associated) Positive
Variant info
exon 8
c.1280T>C r.(1280u>c) p.(Met427Thr) Unknown Unknown (disease-associated) Positive
Variant info
exon 8
c.1281G>T r.(1281g>u) p.(Met427Ile) potentially less severe Classic infantile Positive
Variant info
exon 8
c.1286A>G r.(1286a>g) p.(Gln429Arg) Unknown Unknown Positive
Variant info
exon 8
c.1291_1299del r.(1291_1299del) p.(Leu431_Gln433del) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1292_1295dup r.(1292_1295dup) p.(Gln433Alafs*74) very severe Classic infantile Negative
Variant info
exon 8
c.1293_1326+57del r.? p.? very severe Unknown (disease-associated) Unknown
Variant info
exon 8
c.1293_1312del r.(1293_1312del) p.(Gln433Aspfs*66) Very severe Classic infantile Negative
Variant info
exon 8
c.1297C>A r.(1297c>a) p.(Gln433Lys) Unknown Unknown (disease-associated) Positive
Variant info
exon 8
c.1298A>C r.(1298a>c) p.(Gln433Pro) Potentially less severe Classic infantile Positive
Variant info
exon 8
c.1309C>T r.(1309c>u) p.(Arg437Cys) Less severe Childhood Positive
Variant info
exon 8
c.1310G>A r.(1310g>a) p.(Arg437His) Unknown Unknown (disease-associated) Positive
Variant info
exon 8
c.1311_1312ins(26) r.spl p.? very severe Classic infantile Unknown
Variant info
exon 8
c.1316T>A r.(1316u>a) p.(Met439Lys) Potentially mild Classic infantile Positive
Variant info
exon 8
c.1320_1322del r.(1320_1322del) p.(Met440del) Potentially less severe Classic infantile Positive
Variant info
exon 8
c.1322_1326+9del r.spl p.? Very severe Classic infantile Negative
Variant info
exon 8
c.1324G>A r.(1324g>a) p.(Val442Met) Unknown Unknown (found only in NBS) Positive
Variant info
intron 8
c.1326+1G>A r.spl p.? Very severe Classic infantile Unknown
Variant info
intron 8
c.1326+5G>A r.(spl?) p.? Unknown Unknown Unknown
Variant info
intron 8
c.1326+132G>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 8
c.1326+459C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 8
c.1326+460G>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 8
c.1327-514G>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 8
c.1327-356G>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 8
c.1327-321del r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 8
c.1327-269A>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 8
c.1327-209C>T r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 8
c.1327-179G>A r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 8
c.1327-118A>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 8
c.1327-54_1437+178del r.1327_1437del p.? very severe Classic infantile Positive
Variant info
intron 8
c.1327-18A>G r.(=) p.? Non-pathogenic Unknown Positive
Variant info
intron 8
c.1327-2A>G r.spl p.? Very severe Classic infantile Unknown
Variant info
intron 8
c.1327-2A>C r.spl p.? Very severe Classic infantile Unknown
Variant info
exon 9
c.1331C>G r.(1331c>g) p.(Pro444Arg) Unknown Unknown (disease-associated) Positive
Variant info
exon 9
c.1333G>C r.(1333g>c) p.(Ala445Pro) Potentially less severe Childhood Positive
Variant info
exon 9
c.1354_1372del r.(1354_1372del) p.(Ala452Thrfs*19) Very severe Unknown (disease-associated) Negative
Variant info
exon 9
c.1356del r.(1356del) p.(Ser454Alafs*23) Very severe Classic infantile Negative
Variant info
exon 9
c.1358_1361del r.(1358_1361del) p.(Gly453Alafs*23) very severe Classic infantile Unknown
Variant info
exon 9
c.1364A>C r.(1364a>c) p.(Tyr455Cys) Unknown Childhood Positive
Variant info
exon 9
c.1364A>T r.(1364a>u) p.(Tyr455Phe) Less severe Unknown (disease-associated) Positive
Variant info
exon 9
c.1370C>T r.(1370c>u) p.(Pro457Leu) Potentially mild Childhood Positive
Variant info
exon 9
c.1370C>A r.(1370c>a) p.(Pro457His) Potentially less severe Unknown Positive
Variant info
exon 9
c.1371del r.(1371del) p.(Tyr458Thrfs*19) Very severe Unknown (disease-associated) Negative
Variant info
exon 9
c.1373A>G r.(1373a>g) p.(Tyr458Cys) Non-pathogenic Unknown Positive
Variant info
exon 9
c.1374C>T r.1374c>u p.(=) Non-pathogenic Unknown Positive
Variant info
exon 9
c.1375G>A r.(1375g>a) p.(Asp459Asn) Unknown Unknown (disease-associated) Positive
Variant info
exon 9
c.1377_1379del r.(1377_1379del) p.(Asp459del) Very severe Classic infantile Positive
Variant info
exon 9
c.1378G>T r.(1378g>u) p.(Glu460*) very severe Unknown (disease-associated) Negative
Variant info
exon 9
c.1381G>A r.(1381g>a) p.(Gly461Ser) Potentially less severe Unknown Positive
Variant info
exon 9
c.1385T>C r.(1385u>c) p.(Leu462Pro) Unknown Classic infantile Positive
Variant info
exon 9
c.1388_1406del r.(1388_1406del) p.(Arg463Profs*8) very severe Unknown (disease-associated) Negative
Variant info
exon 9
c.1396del r.(1396del) p.(Val466Phefs*11) Very severe Classic infantile Negative
Variant info
exon 9
c.1396dup r.(1396dup) p.(Val466Glyfs*40) very severe Unknown (disease-associated) Negative
Variant info
exon 9
c.1396G>T r.(1396g>u) p.(Val466Phe) Potentially less severe Classic infantile Positive
Variant info
exon 9
c.1397T>G r.(1397u>g) p.(Val466Gly) Unknown Childh