GPAA1 — 621 ClinVar variants
All ClinVar germline GPAA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 242 flagged for review →
22 Pathogenic · 4 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 10 Conflicting · 8 Benign · 11 Benign/Likely benign · 275 Likely benign · 269 Uncertain significance
Full GPAA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 242
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- GPAA1 p.Ala316Val Conflicting Single submitter
-
GPAA1 p.Arg296Gln
Conflicting
Single submitter
Inborn genetic diseases
-
GPAA1 p.Glu240Gly
Conflicting
Single submitter
glycosylphosphatidylinositol biosynthesis defect 15
-
GPAA1 p.Leu290Pro
Conflicting
Single submitter
glycosylphosphatidylinositol biosynthesis defect 15
-
GPAA1 p.Lys621Asn
Conflicting
Single submitter
glycosylphosphatidylinositol biosynthesis defect 15
-
GPAA1 p.Val181Ile
Conflicting
Single submitter
glycosylphosphatidylinositol biosynthesis defect 15
Predictors lean, ClinVar uncertain 188
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 188
-
GPAA1 p.Ala377Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Ala533Val
Uncertain significance
Multiple submitters
glycosylphosphatidylinositol biosynthesis defect 15
-
GPAA1 p.Ala570Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Ala575Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Ala597Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Ala74Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GPAA1 p.Ala74Val Uncertain significance Multiple submitters
-
GPAA1 p.Arg10Gln
Uncertain significance
Multiple submitters
glycosylphosphatidylinositol biosynthesis defect 15
-
GPAA1 p.Arg110Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Arg215Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Arg296Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GPAA1 p.Arg326Cys Uncertain significance Multiple submitters
-
GPAA1 p.Arg344His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Arg352Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Arg541Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Arg565Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Arg81Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Gln46Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Gln568Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Glu226Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GPAA1 p.Glu404Asp Uncertain significance Multiple submitters
-
GPAA1 p.Glu61Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Gly244Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Gly282Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Gly304Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Gly423Glu
Uncertain significance
Multiple submitters
glycosylphosphatidylinositol biosynthesis defect 15
-
GPAA1 p.Gly539Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GPAA1 p.His303Asp Uncertain significance Multiple submitters
-
GPAA1 p.Ile180Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GPAA1 p.Leu20Phe Uncertain significance Multiple submitters
-
GPAA1 p.Leu590Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Leu603Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Pro417Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Pro491Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Pro553Leu
Uncertain significance
Multiple submitters
glycosylphosphatidylinositol biosynthesis defect 15
- GPAA1 p.Pro7Leu Uncertain significance Multiple submitters
-
GPAA1 p.Pro7Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GPAA1 p.Ser157Arg Uncertain significance Multiple submitters
- GPAA1 p.Ser413Arg Uncertain significance Multiple submitters
-
GPAA1 p.Thr278Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Thr531Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GPAA1 p.Tyr544Cys Uncertain significance Multiple submitters
- GPAA1 p.Tyr595Cys Uncertain significance Multiple submitters
-
GPAA1 p.Val129Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Val17Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Val369Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GPAA1 p.Ala12Val Uncertain significance Single submitter
- GPAA1 p.Ala139Val Uncertain significance Single submitter
- GPAA1 p.Ala14Thr Uncertain significance Single submitter
-
GPAA1 p.Ala167Pro
Uncertain significance
Single submitter
glycosylphosphatidylinositol biosynthesis defect 15
- GPAA1 p.Ala194Ser Uncertain significance Single submitter
- GPAA1 p.Ala338Thr Uncertain significance Single submitter
-
GPAA1 p.Ala338Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPAA1 p.Ala409Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPAA1 p.Ala409Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPAA1 p.Ala409Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Ala436Ser Uncertain significance Single submitter
- GPAA1 p.Ala440Thr Uncertain significance Single submitter
- GPAA1 p.Ala461Ser Uncertain significance Single submitter
- GPAA1 p.Ala461Val Uncertain significance Single submitter
- GPAA1 p.Ala470Val Uncertain significance Single submitter
-
GPAA1 p.Ala584Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPAA1 p.Ala79Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Ala90Val Uncertain significance Single submitter
-
GPAA1 p.Arg10Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Arg134Trp Uncertain significance Single submitter
-
GPAA1 p.Arg137Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Arg301His Uncertain significance Single submitter
- GPAA1 p.Arg311His Uncertain significance Single submitter
-
GPAA1 p.Arg313His
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Arg320His Uncertain significance Single submitter
-
GPAA1 p.Arg344Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Arg367His Uncertain significance Single submitter
- GPAA1 p.Arg47Gly Uncertain significance Single submitter
- GPAA1 p.Arg47His Uncertain significance Single submitter
- GPAA1 p.Arg484Gln Uncertain significance Single submitter
- GPAA1 p.Arg484Trp Uncertain significance Single submitter
- GPAA1 p.Arg493Lys Uncertain significance Single submitter
-
GPAA1 p.Arg541Trp
Uncertain significance
Single submitter
glycosylphosphatidylinositol biosynthesis defect 15
- GPAA1 p.Arg69Leu Uncertain significance Single submitter
- GPAA1 p.Arg9His Uncertain significance Single submitter
-
GPAA1 p.Arg9Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Asn203Ile Uncertain significance Single submitter
- GPAA1 p.Asn203Ser Uncertain significance Single submitter
- GPAA1 p.Asn21Ser Uncertain significance Single submitter
-
GPAA1 p.Asn253Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Asn323Ser Uncertain significance Single submitter
- GPAA1 p.Asp201Asn Uncertain significance Single submitter
-
GPAA1 p.Cys150Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Gln260His Uncertain significance Single submitter
-
GPAA1 p.Gln273His
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Gln285His Uncertain significance Single submitter
- GPAA1 p.Gln587His Uncertain significance Single submitter
-
GPAA1 p.Gln587Pro
Uncertain significance
Single submitter
glycosylphosphatidylinositol biosynthesis defect 15
- GPAA1 p.Glu142Gln Uncertain significance Single submitter
- GPAA1 p.Glu275Lys Uncertain significance Single submitter
-
GPAA1 p.Glu391Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Glu391Lys Uncertain significance Single submitter
-
GPAA1 p.Glu398Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Glu405Asp Uncertain significance Single submitter
- GPAA1 p.Glu576Lys Uncertain significance Single submitter
- GPAA1 p.Glu61Asp Uncertain significance Single submitter
-
GPAA1 p.Glu93Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Gly126Asp Uncertain significance Single submitter
- GPAA1 p.Gly131Val Uncertain significance Single submitter
- GPAA1 p.Gly263Ser Uncertain significance Single submitter
- GPAA1 p.Gly270Ser Uncertain significance Single submitter
-
GPAA1 p.Gly282Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Gly286Ser Uncertain significance Single submitter
-
GPAA1 p.Gly307Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Gly32Asp Uncertain significance Single submitter
- GPAA1 p.Gly336Arg Uncertain significance Single submitter
- GPAA1 p.Gly364Ser Uncertain significance Single submitter
- GPAA1 p.Gly379Arg Uncertain significance Single submitter
- GPAA1 p.Gly407Arg Uncertain significance Single submitter
- GPAA1 p.Gly411Val Uncertain significance Single submitter
- GPAA1 p.Gly596Ser Uncertain significance Single submitter
-
GPAA1 p.Gly66Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.His119Gln Uncertain significance Single submitter
- GPAA1 p.His200Arg Uncertain significance Single submitter
- GPAA1 p.His450Tyr Uncertain significance Single submitter
-
GPAA1 p.His483Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.His80Tyr Uncertain significance Single submitter
-
GPAA1 p.Leu144Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPAA1 p.Leu166Met
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Leu189Phe Uncertain significance Single submitter
- GPAA1 p.Leu18Val Uncertain significance Single submitter
-
GPAA1 p.Leu225Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Leu265Phe Uncertain significance Single submitter
-
GPAA1 p.Leu310Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Leu332Pro Uncertain significance Single submitter
- GPAA1 p.Leu359Val Uncertain significance Single submitter
- GPAA1 p.Leu3Val Uncertain significance Single submitter
- GPAA1 p.Leu444Pro Uncertain significance Single submitter
- GPAA1 p.Leu498Met Uncertain significance Single submitter
- GPAA1 p.Leu534Phe Uncertain significance Single submitter
- GPAA1 p.Leu543Arg Uncertain significance Single submitter
- GPAA1 p.Leu567Pro Uncertain significance Single submitter
- GPAA1 p.Leu580His Uncertain significance Single submitter
- GPAA1 p.Leu613Val Uncertain significance Single submitter
-
GPAA1 p.Leu618Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Lys536Gln Uncertain significance Single submitter
- GPAA1 p.Lys82Arg Uncertain significance Single submitter
- GPAA1 p.Lys83Arg Uncertain significance Single submitter
- GPAA1 p.Met342Ile Uncertain significance Single submitter
-
GPAA1 p.Met437Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPAA1 p.Phe368Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPAA1 p.Pro211Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Pro283Leu Uncertain significance Single submitter
-
GPAA1 p.Pro363Thr
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 48
The independent predictors disagree with each other — read with care.
-
GPAA1 p.Ala477Pro
Likely benign
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Arg215Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Arg311Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Glu351Gln
Uncertain significance
Multiple submitters
glycosylphosphatidylinositol biosynthesis defect 15
-
GPAA1 p.Glu591Lys
Uncertain significance
Multiple submitters
glycosylphosphatidylinositol biosynthesis defect 15
-
GPAA1 p.Gly321Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GPAA1 p.Gly372Ser Uncertain significance Multiple submitters
-
GPAA1 p.Gly379Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GPAA1 p.Gly606Asp Uncertain significance Multiple submitters
-
GPAA1 p.Leu508Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Phe325Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GPAA1 p.Phe36Cys Uncertain significance Multiple submitters
- GPAA1 p.Ser210Phe Benign/Likely benign Multiple submitters
-
GPAA1 p.Ser560Arg
Uncertain significance
Multiple submitters
glycosylphosphatidylinositol biosynthesis defect 15
-
GPAA1 p.Thr105Met
Likely benign
Multiple submitters
Inborn genetic diseases
-
GPAA1 p.Ala177Thr
Likely pathogenic
Single submitter
GPAA1-related disorders
-
GPAA1 p.Ala525Thr
Uncertain significance
Single submitter
GPAA1-related disorder
- GPAA1 p.Arg313Cys Uncertain significance Single submitter
- GPAA1 p.Arg320Cys Uncertain significance Single submitter
- GPAA1 p.Arg367Gly Uncertain significance Single submitter
- GPAA1 p.Arg69Cys Uncertain significance Single submitter
-
GPAA1 p.Arg94Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Arg97Pro Uncertain significance Single submitter
- GPAA1 p.Arg97Trp Uncertain significance Single submitter
-
GPAA1 p.Asn323Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Asn517Ser Uncertain significance Single submitter
- GPAA1 p.Asp68Tyr Uncertain significance Single submitter
-
GPAA1 p.Asp6Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPAA1 p.Glu193Gly
Uncertain significance
Single submitter
glycosylphosphatidylinositol biosynthesis defect 15
- GPAA1 p.Glu462Asp Uncertain significance Single submitter
- GPAA1 p.Gly2Ser Uncertain significance Single submitter
- GPAA1 p.Gly386Asp Uncertain significance Single submitter
- GPAA1 p.Gly588Asp Uncertain significance Single submitter
-
GPAA1 p.Leu548Met
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Leu599Pro Uncertain significance Single submitter
-
GPAA1 p.Met50Lys
Conflicting
Single submitter
glycosylphosphatidylinositol biosynthesis defect 15
- GPAA1 p.Phe170Leu Uncertain significance Single submitter
- GPAA1 p.Phe309Leu Uncertain significance Single submitter
- GPAA1 p.Phe343Leu Uncertain significance Single submitter
- GPAA1 p.Pro302Leu Uncertain significance Single submitter
-
GPAA1 p.Pro42Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPAA1 p.Ser228Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Ser234Ile Uncertain significance Single submitter
- GPAA1 p.Thr147Ile Uncertain significance Single submitter
-
GPAA1 p.Thr289Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPAA1 p.Tyr104Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- GPAA1 p.Tyr442Cys Uncertain significance Single submitter
- GPAA1 p.Tyr608Ser Uncertain significance Single submitter
All GPAA1 variants
Pathogenic 22
- p.Met207fs Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15
- p.Ser107fs Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15
- p.Gln288Ter Single submitter
- p.Gln489Ter Single submitter glycosylphosphatidylinositol biosynthesis defect 15
- p.Gln63Ter Single submitter
- p.Glu315Ter Single submitter
- p.Glu62Ter Single submitter
- p.Gly270fs Single submitter
- p.Gly307fs Single submitter glycosylphosphatidylinositol biosynthesis defect 15
- p.Gly336fs Single submitter
- p.Gly408fs Single submitter
- p.Leu190fs Single submitter
- p.Leu319fs Single submitter
- p.Pro609Leu Single submitter glycosylphosphatidylinositol biosynthesis defect 15
- p.Pro88fs Single submitter
- p.Trp393Ter Single submitter
- p.Trp495Ter Single submitter
- p.Tyr130Ter Single submitter
- p.Tyr175Ter Single submitter
- p.Tyr312Ter Single submitter
- p.Val232fs Single submitter
- p.Gln327fs No assertion criteria glycosylphosphatidylinositol biosynthesis defect 15
Pathogenic/Likely pathogenic 4
- p.Arg15fs Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15
- p.Arg215Ter Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15
- p.Ser154fs Multiple submitters
- p.Ser419Ter Multiple submitters GPAA1-related disorder
Likely pathogenic 22
- c.1011-2_1011-1del Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15
- c.1165-1C>T Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15
- c.366+1G>A Multiple submitters
- c.616+1G>T Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15
- p.Leu291Pro Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15
- c.1010+1G>A Single submitter
- c.1010+1G>C Single submitter
- c.1260+1G>A Single submitter
- c.367-1G>A Single submitter glycosylphosphatidylinositol biosynthesis defect 15
- c.515-2A>G Single submitter
- c.616+1G>A Single submitter
- c.616+1G>C Single submitter
- c.813+1G>A Single submitter
- c.813+1G>C Single submitter
- c.814-1G>T Single submitter
- p.Ala177Thr Single submitter GPAA1-related disorders ⚠
- p.Ala389Pro Single submitter glycosylphosphatidylinositol biosynthesis defect 15
- p.Gln420Ter Single submitter
- p.Ser51Leu Single submitter glycosylphosphatidylinositol biosynthesis defect 15
- p.Trp176Ser Single submitter glycosylphosphatidylinositol biosynthesis defect 15
- p.Trp277Ter Single submitter GPAA1-related disorders
- p.Trp393fs No assertion criteria GPAA1-related disorder
Conflicting classifications of pathogenicity 10
- c.1622+3A>G Single submitter glycosylphosphatidylinositol biosynthesis defect 15
- c.75-5C>T Single submitter Inborn genetic diseases
- p.Ala316Val Single submitter ⚠
- p.Arg296Gln Single submitter Inborn genetic diseases ⚠
- p.Arg493fs Single submitter glycosylphosphatidylinositol biosynthesis defect 15
- p.Glu240Gly Single submitter glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Leu290Pro Single submitter glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Lys621Asn Single submitter glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Met50Lys Single submitter glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Val181Ile Single submitter glycosylphosphatidylinositol biosynthesis defect 15 ⚠
Benign 8
- c.1010+10C>G Multiple submitters
- c.1452-4A>G Multiple submitters
- p.Ala429Thr Multiple submitters
- p.Glu275Gln Multiple submitters
- p.Ile371= Multiple submitters
- p.Leu37= Multiple submitters
- c.1010+22dup Single submitter
- c.1260+14dup Single submitter
Benign/Likely benign 11
- c.1623-8C>T Multiple submitters
- c.74+16G>T Multiple submitters
- p.Ala409= Multiple submitters
- p.Ala514Thr Multiple submitters
- p.Arg493Gly Multiple submitters
- p.Arg541= Multiple submitters
- p.Gly286= Multiple submitters
- p.Pro283= Multiple submitters
- p.Ser210Phe Multiple submitters ⚠
- p.Thr267= Multiple submitters
- p.Val378= Multiple submitters
Likely benign 275
- c.254+13G>A Multiple submitters
- c.367-18C>T Multiple submitters
- c.617-15C>G Multiple submitters
- c.617-16T>C Multiple submitters
- p.Ala470= Multiple submitters
- p.Ala477Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala584= Multiple submitters
- p.Asn323= Multiple submitters
- p.Glu240= Multiple submitters
- p.Gly126= Multiple submitters
- p.Gly402= Multiple submitters
- p.His303= Multiple submitters
- p.Leu164= Multiple submitters
- p.Leu280= Multiple submitters
- p.Leu287= Multiple submitters
- p.Leu431= Multiple submitters
- p.Leu439= Multiple submitters
- p.Leu524= Multiple submitters
- p.Leu580= Multiple submitters
- p.Phe309= Multiple submitters
- p.Phe368= Multiple submitters
- p.Pro274= Multiple submitters
- p.Pro302= Multiple submitters
- p.Pro553= Multiple submitters
- p.Ser154= Multiple submitters
- p.Ser98= Multiple submitters
- p.Thr105Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr556= Multiple submitters
- p.Tyr130= Multiple submitters
- p.Tyr595= Multiple submitters
- p.Val124= Multiple submitters
- p.Val160= Multiple submitters
- c.1010+14G>C Single submitter
- c.1010+15del Single submitter
- c.1010+15G>A Single submitter
- c.1010+17C>T Single submitter
- c.1011-12C>T Single submitter
- c.1011-15C>T Single submitter
- c.1011-18del Single submitter
- c.1011-20A>G Single submitter
- c.1164+11C>A Single submitter
- c.1164+16T>C Single submitter
- c.1164+19C>A Single submitter
- c.1164+7dup Single submitter
- c.1165-16T>A Single submitter
- c.1165-17G>A Single submitter
- c.1165-18G>A Single submitter
- c.1165-19G>T Single submitter
- c.1165-5G>A Single submitter
- c.1165-5G>T Single submitter
- c.1165-9T>C Single submitter
- c.1260+10C>A Single submitter
- c.1260+10C>T Single submitter
- c.1260+14C>A Single submitter
- c.1260+17C>T Single submitter
- c.1260+8C>T Single submitter
- c.1261-12T>G Single submitter
- c.1261-13G>C Single submitter
- c.1261-16C>G Single submitter
- c.1261-16C>T Single submitter
- c.1261-20A>G Single submitter
- c.1451+14C>T Single submitter
- c.1451+7G>A Single submitter
- c.1451+8G>A Single submitter
- c.1451+8G>T Single submitter
- c.1452-10T>G Single submitter
- c.1452-13C>G Single submitter
- c.1452-19T>C Single submitter
- c.1452-6T>G Single submitter
- c.1452-8T>C Single submitter
- c.1452-9G>C Single submitter
- c.1622+7A>G Single submitter
- c.1623-11T>G Single submitter
- c.1623-13C>T Single submitter
- c.1623-20G>A Single submitter
- c.254+11G>A Single submitter
- c.255-10G>T Single submitter
- c.255-6C>T Single submitter
- c.255-8G>A Single submitter
- c.366+10G>A Single submitter
- c.366+12G>A Single submitter
- c.366+17G>A Single submitter
- c.366+9G>A Single submitter
- c.367-10C>T Single submitter
- c.367-11G>T Single submitter
- c.367-12T>C Single submitter
- c.367-13A>T Single submitter
- c.367-15C>G Single submitter
- c.367-15C>T Single submitter
- c.367-19C>T Single submitter
- c.367-20C>T Single submitter
- c.514+12G>T Single submitter
- c.514+16G>A Single submitter
- c.514+19G>T Single submitter
- c.514+20G>A Single submitter
- c.514+9C>G Single submitter
- c.515-11C>T Single submitter
- c.515-14C>T Single submitter
- c.515-18C>T Single submitter
- c.515-6C>T Single submitter
- c.616+15C>T Single submitter
- c.616+16C>T Single submitter
- c.616+16dup Single submitter
- c.616+19C>T Single submitter
- c.616+20C>G Single submitter
- c.616+8C>T Single submitter
- c.616+9T>C Single submitter
- c.617-10G>A Single submitter
- c.617-19C>T Single submitter
- c.617-6C>T Single submitter
- c.74+15C>G Single submitter
- c.74+17G>T Single submitter
- c.74+20A>C Single submitter
- c.74+9A>G Single submitter
- c.75-11C>T Single submitter
- c.75-11CT[2] Single submitter
- c.75-12C>T Single submitter
- c.75-15C>T Single submitter
- c.75-20C>T Single submitter
- c.813+13G>A Single submitter
- c.813+20T>G Single submitter
- c.813+4_813+11dup Single submitter
- c.813+7CTGC[4] Single submitter
- c.813+8T>C Single submitter
- c.813+9G>A Single submitter
- c.814-11C>G Single submitter
- c.814-13T>C Single submitter
- c.814-14C>T Single submitter
- c.814-15C>T Single submitter
- c.814-18T>G Single submitter
- c.814-19C>G Single submitter
- c.814-4A>G Single submitter
- c.814-5dup Single submitter
- c.814-9C>T Single submitter
- p.Ala12= Single submitter
- p.Ala135= Single submitter
- p.Ala165= Single submitter
- p.Ala167= Single submitter
- p.Ala168= Single submitter
- p.Ala22= Single submitter
- p.Ala222= Single submitter
- p.Ala238= Single submitter
- p.Ala31= Single submitter
- p.Ala429= Single submitter
- p.Ala440= Single submitter
- p.Ala459= Single submitter
- p.Ala477= Single submitter
- p.Ala490= Single submitter
- p.Ala533= Single submitter
- p.Ala555= Single submitter
- p.Ala570= Single submitter
- p.Arg11= Single submitter
- p.Arg15= Single submitter
- p.Arg19= Single submitter
- p.Arg313= Single submitter
- p.Arg47= Single submitter
- p.Arg69= Single submitter
- p.Asn128= Single submitter
- p.Asn21= Single submitter
- p.Asn243= Single submitter
- p.Asn517= Single submitter
- p.Asn53= Single submitter
- p.Asp188= Single submitter
- p.Asp201= Single submitter
- p.Asp236= Single submitter
- p.Asp331= Single submitter
- p.Asp76= Single submitter
- p.Gln106= Single submitter
- p.Gln355= Single submitter
- p.Gln489= Single submitter
- p.Gln568= Single submitter
- p.Glu120= Single submitter
- p.Glu226= Single submitter
- p.Glu315= Single submitter
- p.Glu460= Single submitter
- p.Glu566= Single submitter
- p.Glu569= Single submitter
- p.Glu93= Single submitter
- p.Gly131= Single submitter
- p.Gly151= Single submitter
- p.Gly161= Single submitter
- p.Gly2= Single submitter
- p.Gly262= Single submitter
- p.Gly341= Single submitter
- p.Gly364= Single submitter
- p.Gly400= Single submitter
- p.Gly423= Single submitter
- p.Gly438= Single submitter
- p.Gly56= Single submitter
- p.Gly596= Single submitter
- p.Gly606= Single submitter
- p.His200= Single submitter
- p.His450= Single submitter
- p.His80= Single submitter
- p.Ile132= Single submitter
- p.Ile219= Single submitter
- p.Ile513= Single submitter
- p.Leu101= Single submitter
- p.Leu166= Single submitter
- p.Leu190= Single submitter
- p.Leu212= Single submitter
- p.Leu225= Single submitter
- p.Leu235= Single submitter
- p.Leu251= Single submitter
- p.Leu252= Single submitter
- p.Leu254= Single submitter
- p.Leu264= Single submitter
- p.Leu295= Single submitter
- p.Leu346= Single submitter
- p.Leu349= Single submitter
- p.Leu353= Single submitter
- p.Leu359= Single submitter
- p.Leu382= Single submitter
- p.Leu427= Single submitter
- p.Leu444= Single submitter
- p.Leu468= Single submitter
- p.Leu469= Single submitter
- p.Leu503= Single submitter
- p.Leu506= Single submitter
- p.Leu520= Single submitter
- p.Leu547= Single submitter
- p.Leu548= Single submitter
- p.Leu561= Single submitter
- p.Leu563= Single submitter
- p.Leu574= Single submitter
- p.Leu598= Single submitter
- p.Leu607= Single submitter
- p.Leu612= Single submitter
- p.Leu613= Single submitter
- p.Leu618= Single submitter
- p.Lys261= Single submitter
- p.Lys536= Single submitter
- p.Lys621= Single submitter
- p.Lys83= Single submitter
- p.Phe325= Single submitter
- p.Phe380= Single submitter
- p.Phe456= Single submitter
- p.Pro136= Single submitter
- p.Pro363= Single submitter
- p.Pro376= Single submitter
- p.Pro406= Single submitter
- p.Pro43= Single submitter
- p.Pro491= Single submitter
- p.Pro609= Single submitter
- p.Ser125= Single submitter
- p.Ser143= Single submitter
- p.Ser157= Single submitter
- p.Ser209= Single submitter
- p.Ser299= Single submitter
- p.Ser356= Single submitter
- p.Ser426= Single submitter
- p.Ser552= Single submitter
- p.Ser57= Single submitter
- p.Thr141= Single submitter
- p.Thr205= Single submitter
- p.Thr257= Single submitter
- p.Thr278= Single submitter
- p.Thr289= Single submitter
- p.Thr318= Single submitter
- p.Thr45= Single submitter
- p.Thr467= Single submitter
- p.Thr527= Single submitter
- p.Thr95= Single submitter
- p.Tyr122= Single submitter
- p.Tyr175= Single submitter
- p.Tyr29= Single submitter
- p.Tyr328= Single submitter
- p.Tyr360= Single submitter
- p.Val124Ala Single submitter
- p.Val17= Single submitter
- p.Val204= Single submitter
- p.Val335= Single submitter
- p.Val422= Single submitter
- p.Val485= Single submitter
- p.Val589= Single submitter
Uncertain significance 269
- c.1164+1A>G Multiple submitters
- c.1451+5G>A Multiple submitters
- c.254+6C>T Multiple submitters Inborn genetic diseases
- p.Ala377Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala463Val Multiple submitters Inborn genetic diseases
- p.Ala533Val Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Ala570Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala575Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala597Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala74Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala74Val Multiple submitters ⚠
- p.Arg10Gln Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Arg110Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg215Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg215Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg296Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg311Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg326Cys Multiple submitters ⚠
- p.Arg344His Multiple submitters Inborn genetic diseases ⚠
- p.Arg352Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg541Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg565Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg81Leu Multiple submitters Inborn genetic diseases ⚠
- p.Asn347Ser Multiple submitters Inborn genetic diseases
- p.Gln46Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln568Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu226Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu351Gln Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Glu404Asp Multiple submitters ⚠
- p.Glu591Lys Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Glu61Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly244Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly282Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly304Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly321Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly372Ser Multiple submitters ⚠
- p.Gly379Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly423Glu Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Gly539Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly606Asp Multiple submitters ⚠
- p.His303Asp Multiple submitters ⚠
- p.Ile180Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu20Phe Multiple submitters ⚠
- p.Leu508Gln Multiple submitters Inborn genetic diseases ⚠
- p.Leu590Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu603Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe325Ser Multiple submitters Inborn genetic diseases ⚠
- p.Phe36Cys Multiple submitters ⚠
- p.Pro417Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro430Ser Multiple submitters Inborn genetic diseases
- p.Pro491Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro553Leu Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Pro7Leu Multiple submitters ⚠
- p.Pro7Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser157Arg Multiple submitters ⚠
- p.Ser413Arg Multiple submitters ⚠
- p.Ser560Arg Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Thr267Met Multiple submitters Inborn genetic diseases
- p.Thr278Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr531Ser Multiple submitters Inborn genetic diseases ⚠
- p.Trp620Ter Multiple submitters
- p.Tyr544Cys Multiple submitters ⚠
- p.Tyr595Cys Multiple submitters ⚠
- p.Val129Met Multiple submitters Inborn genetic diseases ⚠
- p.Val17Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val369Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val458Met Multiple submitters glycosylphosphatidylinositol biosynthesis defect 15
- c.1010+6T>C Single submitter
- c.1260+3G>C Single submitter
- c.1452-11_1452-10delinsGA Single submitter
- c.1452-19_1452-18insATT Single submitter
- c.1622+4T>G Single submitter
- c.1623-1G>A Single submitter
- c.366+4C>T Single submitter
- c.616+5G>T Single submitter
- c.617-3C>T Single submitter
- c.617-6C>G Single submitter Inborn genetic diseases
- c.74+1_74+3del Single submitter
- p.Ala12Val Single submitter ⚠
- p.Ala139Val Single submitter ⚠
- p.Ala14Thr Single submitter ⚠
- p.Ala167Pro Single submitter glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Ala194Ser Single submitter ⚠
- p.Ala198Val Single submitter
- p.Ala222Val Single submitter
- p.Ala334_Val335del Single submitter
- p.Ala338Thr Single submitter ⚠
- p.Ala338Val Single submitter Inborn genetic diseases ⚠
- p.Ala409Asp Single submitter Inborn genetic diseases ⚠
- p.Ala409Gly Single submitter Inborn genetic diseases ⚠
- p.Ala409Thr Single submitter Inborn genetic diseases ⚠
- p.Ala436Ser Single submitter ⚠
- p.Ala440Thr Single submitter ⚠
- p.Ala461Ser Single submitter ⚠
- p.Ala461Val Single submitter ⚠
- p.Ala470Val Single submitter ⚠
- p.Ala525Thr Single submitter GPAA1-related disorder ⚠
- p.Ala54Asn Single submitter glycosylphosphatidylinositol biosynthesis defect 15
- p.Ala584Val Single submitter Inborn genetic diseases ⚠
- p.Ala79Val Single submitter Inborn genetic diseases ⚠
- p.Ala90Val Single submitter ⚠
- p.Arg10Leu Single submitter Inborn genetic diseases ⚠
- p.Arg134Trp Single submitter ⚠
- p.Arg137Cys Single submitter Inborn genetic diseases ⚠
- p.Arg296Pro Single submitter
- p.Arg301His Single submitter ⚠
- p.Arg311His Single submitter ⚠
- p.Arg313Cys Single submitter ⚠
- p.Arg313His Single submitter Inborn genetic diseases ⚠
- p.Arg320Cys Single submitter ⚠
- p.Arg320His Single submitter ⚠
- p.Arg344Cys Single submitter Inborn genetic diseases ⚠
- p.Arg367Gly Single submitter ⚠
- p.Arg367His Single submitter ⚠
- p.Arg47Gly Single submitter ⚠
- p.Arg47His Single submitter ⚠
- p.Arg484= Single submitter
- p.Arg484Gln Single submitter ⚠
- p.Arg484Trp Single submitter ⚠
- p.Arg493Lys Single submitter ⚠
- p.Arg541Trp Single submitter glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Arg69Cys Single submitter ⚠
- p.Arg69Leu Single submitter ⚠
- p.Arg94Trp Single submitter Inborn genetic diseases ⚠
- p.Arg97Pro Single submitter ⚠
- p.Arg97Trp Single submitter ⚠
- p.Arg9His Single submitter ⚠
- p.Arg9Leu Single submitter Inborn genetic diseases ⚠
- p.Asn203_Val204del Single submitter
- p.Asn203Ile Single submitter ⚠
- p.Asn203Ser Single submitter ⚠
- p.Asn21Ser Single submitter ⚠
- p.Asn253Ser Single submitter Inborn genetic diseases ⚠
- p.Asn323Lys Single submitter Inborn genetic diseases ⚠
- p.Asn323Ser Single submitter ⚠
- p.Asn517Ser Single submitter ⚠
- p.Asp188_Thr192del Single submitter
- p.Asp201Asn Single submitter ⚠
- p.Asp68Tyr Single submitter ⚠
- p.Asp6Gly Single submitter Inborn genetic diseases ⚠
- p.Cys150Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln260His Single submitter ⚠
- p.Gln273His Single submitter Inborn genetic diseases ⚠
- p.Gln285His Single submitter ⚠
- p.Gln587His Single submitter ⚠
- p.Gln587Pro Single submitter glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Glu142Gln Single submitter ⚠
- p.Glu193Gly Single submitter glycosylphosphatidylinositol biosynthesis defect 15 ⚠
- p.Glu197_Ala198delinsAspSer Single submitter
- p.Glu275Lys Single submitter ⚠
- p.Glu391Gly Single submitter Inborn genetic diseases ⚠
- p.Glu391Lys Single submitter ⚠
- p.Glu398Asp Single submitter Inborn genetic diseases ⚠
- p.Glu405Asp Single submitter ⚠
- p.Glu462Asp Single submitter ⚠
- p.Glu576Lys Single submitter ⚠
- p.Glu61Asp Single submitter ⚠
- p.Glu93Ala Single submitter Inborn genetic diseases ⚠
- p.Gly126Asp Single submitter ⚠
- p.Gly131Val Single submitter ⚠
- p.Gly244= Single submitter
- p.Gly263Ser Single submitter ⚠
- p.Gly270Ala Single submitter
- p.Gly270Ser Single submitter ⚠
- p.Gly282Arg Single submitter Inborn genetic diseases ⚠
- p.Gly286Ser Single submitter ⚠
- p.Gly2Ser Single submitter ⚠
- p.Gly307Asp Single submitter Inborn genetic diseases ⚠
- p.Gly32Asp Single submitter ⚠
- p.Gly336Arg Single submitter ⚠
- p.Gly364Ser Single submitter ⚠
- p.Gly379Arg Single submitter ⚠
- p.Gly386Asp Single submitter ⚠
- p.Gly407Arg Single submitter ⚠
- p.Gly411Val Single submitter ⚠
- p.Gly588Asp Single submitter ⚠
- p.Gly596Ser Single submitter ⚠
- p.Gly66Val Single submitter Inborn genetic diseases ⚠
- p.His119Gln Single submitter ⚠
- p.His200Arg Single submitter ⚠
- p.His450Tyr Single submitter ⚠
- p.His483Tyr Single submitter Inborn genetic diseases ⚠
- p.His80Tyr Single submitter ⚠
- p.Leu144Arg Single submitter Inborn genetic diseases ⚠
- p.Leu166Met Single submitter Inborn genetic diseases ⚠
- p.Leu189Phe Single submitter ⚠
- p.Leu18Val Single submitter ⚠
- p.Leu225Val Single submitter Inborn genetic diseases ⚠
- p.Leu265Phe Single submitter ⚠
- p.Leu291Gln Single submitter Inborn genetic diseases
- p.Leu310Pro Single submitter Inborn genetic diseases
- p.Leu310Val Single submitter Inborn genetic diseases ⚠
- p.Leu332Pro Single submitter ⚠
- p.Leu359Val Single submitter ⚠
- p.Leu39Pro Single submitter
- p.Leu3Val Single submitter ⚠
- p.Leu444Pro Single submitter ⚠
- p.Leu498Met Single submitter ⚠
- p.Leu534Phe Single submitter ⚠
- p.Leu543Arg Single submitter ⚠
- p.Leu548Met Single submitter Inborn genetic diseases ⚠
- p.Leu567Pro Single submitter ⚠
- p.Leu580His Single submitter ⚠
- p.Leu599Pro Single submitter ⚠
- p.Leu613Val Single submitter ⚠
- p.Leu618Phe Single submitter Inborn genetic diseases ⚠
- p.Lys536Gln Single submitter ⚠
- p.Lys82Arg Single submitter ⚠
- p.Lys83Arg Single submitter ⚠
- p.Met1Leu Single submitter glycosylphosphatidylinositol biosynthesis defect 15
- p.Met342Ile Single submitter ⚠
- p.Met437Leu Single submitter Inborn genetic diseases ⚠
- p.Phe170Leu Single submitter ⚠
- p.Phe309Leu Single submitter ⚠
- p.Phe343Leu Single submitter ⚠
- p.Phe368Val Single submitter Inborn genetic diseases ⚠
- p.Pro211Ala Single submitter Inborn genetic diseases ⚠
- p.Pro283Leu Single submitter ⚠
- p.Pro302Leu Single submitter ⚠
- p.Pro363Thr Single submitter Inborn genetic diseases ⚠
- p.Pro376Arg Single submitter ⚠
- p.Pro376Leu Single submitter
- p.Pro410Ser Single submitter ⚠
- p.Pro412Leu Single submitter Inborn genetic diseases ⚠
- p.Pro415His Single submitter ⚠
- p.Pro415Leu Single submitter ⚠
- p.Pro415Thr Single submitter ⚠
- p.Pro42Leu Single submitter Inborn genetic diseases ⚠
- p.Pro430Leu Single submitter
- p.Pro445Leu Single submitter Inborn genetic diseases ⚠
- p.Pro457Ser Single submitter
- p.Pro491Ser Single submitter Inborn genetic diseases ⚠
- p.Pro530Leu Single submitter ⚠
- p.Pro553Thr Single submitter ⚠
- p.Pro571Ser Single submitter ⚠
- p.Pro601Ser Single submitter Inborn genetic diseases ⚠
- p.Ser109Phe Single submitter ⚠
- p.Ser157Cys Single submitter Inborn genetic diseases ⚠
- p.Ser228Arg Single submitter Inborn genetic diseases ⚠
- p.Ser228Asn Single submitter ⚠
- p.Ser234Ile Single submitter ⚠
- p.Ser552Arg Single submitter ⚠
- p.Ser98Leu Single submitter ⚠
- p.Thr105Lys Single submitter ⚠
- p.Thr147Ile Single submitter ⚠
- p.Thr289Pro Single submitter Inborn genetic diseases ⚠
- p.Thr318Ile Single submitter ⚠
- p.Thr488Ala Single submitter Inborn genetic diseases ⚠
- p.Thr526Ala Single submitter ⚠
- p.Thr556Met Single submitter ⚠
- p.Thr95Ala Single submitter ⚠
- p.Thr95Met Single submitter ⚠
- p.Tyr104Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr104Phe Single submitter ⚠
- p.Tyr330Phe Single submitter ⚠
- p.Tyr360Cys Single submitter ⚠
- p.Tyr374His Single submitter ⚠
- p.Tyr442Cys Single submitter ⚠
- p.Tyr608Ser Single submitter ⚠
- p.Val223Met Single submitter ⚠
- p.Val239Leu Single submitter Inborn genetic diseases ⚠
- p.Val239Met Single submitter ⚠
- p.Val422Met Single submitter ⚠
- p.Val428Leu Single submitter ⚠
- p.Val428Met Single submitter ⚠
- p.Val451Ala Single submitter ⚠
- p.Val589Ala Single submitter ⚠
- p.Val589Met Single submitter ⚠
- p.Met207Val No assertion criteria GPAA1-related disorder ⚠