ATP6AP2 — 265 ClinVar variants
All ClinVar germline ATP6AP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →
5 Pathogenic · 1 Likely pathogenic · 13 Conflicting · 23 Benign · 5 Benign/Likely benign · 91 Likely benign · 127 Uncertain significance
Full ATP6AP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 124
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ATP6AP2 p.Ala64Thr
Conflicting
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Arg152His
Conflicting
Single submitter
Inborn genetic diseases
-
ATP6AP2 p.Asp180Gly
Conflicting
Single submitter
Inborn genetic diseases
-
ATP6AP2 p.Met314Leu
Conflicting
Single submitter
Inborn genetic diseases
-
ATP6AP2 p.Val164Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ATP6AP2 p.Ala259Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATP6AP2 p.Arg41Gln
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIr
-
ATP6AP2 p.Asn17Ser
Uncertain significance
Multiple submitters
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Asp242Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATP6AP2 p.Gly33Glu
Uncertain significance
Multiple submitters
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Ser53Phe
Uncertain significance
Multiple submitters
ATP6AP2-related disorder
-
ATP6AP2 p.Ser92Asn
Uncertain significance
Multiple submitters
ATP6AP2-related disorder
-
ATP6AP2 p.Val54Leu
Uncertain significance
Multiple submitters
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Ala110Thr
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Ala128Val Uncertain significance Single submitter
-
ATP6AP2 p.Ala12Val
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Ala217Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6AP2 p.Ala286Val
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Ala318Asp
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Ala87Pro
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Arg155His
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Arg225His
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Arg278Gly
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Arg31Gln Uncertain significance Single submitter
-
ATP6AP2 p.Arg341Ser
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Arg71Cys Uncertain significance Single submitter
-
ATP6AP2 p.Arg73Gln
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Arg73Gly
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Asn177Asp
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Asn177Ser
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Asp210Gly
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Gln245Arg Uncertain significance Single submitter
-
ATP6AP2 p.Glu231Val
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Glu99Lys Uncertain significance Single submitter
-
ATP6AP2 p.His114Tyr
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.His70Leu
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Ile280Met
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Ile280Val Uncertain significance Single submitter
- ATP6AP2 p.Ile322Phe Uncertain significance Single submitter
- ATP6AP2 p.Ile323Val Uncertain significance Single submitter
- ATP6AP2 p.Ile339Thr Uncertain significance Single submitter
- ATP6AP2 p.Leu170Ile Uncertain significance Single submitter
-
ATP6AP2 p.Leu273Phe
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Leu273Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6AP2 p.Leu281Phe Uncertain significance Single submitter
-
ATP6AP2 p.Leu88Val
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Met331Val Uncertain significance Single submitter
-
ATP6AP2 p.Phe117Leu
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Pro122His
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Pro129Ala Uncertain significance Single submitter
-
ATP6AP2 p.Pro36Ser
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Pro43Ser
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Pro89Ser
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Ser108Asn
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Ser337Arg Uncertain significance Single submitter
-
ATP6AP2 p.Thr271Ser
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Thr279Ala Uncertain significance Single submitter
-
ATP6AP2 p.Thr343Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIr
-
ATP6AP2 p.Tyr255His
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Val109Leu
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Val11Ala Uncertain significance Single submitter
-
ATP6AP2 p.Val143Ala
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Val179Ala
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Val321Met
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Val76Ile
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
Predictors split 59
The independent predictors disagree with each other — read with care.
-
ATP6AP2 p.Arg133Lys
Likely benign
Multiple submitters
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Arg155Cys
Uncertain significance
Multiple submitters
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Arg199His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATP6AP2 p.Gly16Glu
Uncertain significance
Multiple submitters
ATP6AP2-related disorder
-
ATP6AP2 p.Leu125Phe
Uncertain significance
Multiple submitters
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Ser167Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATP6AP2 p.Tyr293Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATP6AP2 p.Val78Leu
Uncertain significance
Multiple submitters
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Ala128Pro
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Ala236Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6AP2 p.Ala243Thr
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Ala316Thr
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Arg152Cys
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Arg155Gly Uncertain significance Single submitter
-
ATP6AP2 p.Arg157Cys
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Arg199Cys
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Arg225Cys
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Arg41Trp
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Arg71His
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIr
-
ATP6AP2 p.Arg73Trp
Conflicting
Single submitter
Inborn genetic diseases
-
ATP6AP2 p.Asn308His
Conflicting
Single submitter
Inborn genetic diseases
-
ATP6AP2 p.Asn327Asp
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Asn327Ser
Conflicting
Single submitter
Inborn genetic diseases
- ATP6AP2 p.Asp206Glu Uncertain significance Single submitter
- ATP6AP2 p.Asp249Gly Uncertain significance Single submitter
-
ATP6AP2 p.Asp57Asn
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Glu18Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6AP2 p.Glu56Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6AP2 p.Gly256Cys
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Ile21Met Uncertain significance Single submitter
- ATP6AP2 p.Ile222Met Uncertain significance Single submitter
-
ATP6AP2 p.Ile339Val
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Leu106Ile Likely benign Single submitter
- ATP6AP2 p.Leu10Phe Uncertain significance Single submitter
-
ATP6AP2 p.Leu151Ser
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Leu22Phe Uncertain significance Single submitter
-
ATP6AP2 p.Leu7Phe
Conflicting
Single submitter
Inborn genetic diseases
-
ATP6AP2 p.Lys205Asn
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Met136Ile
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Met136Thr
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Met251Thr
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Met314Ile
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Pro122Leu
Conflicting
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Pro97Ser
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Ser105Arg
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Ser166Cys
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Ser185Cys Uncertain significance Single submitter
- ATP6AP2 p.Ser208Pro Uncertain significance Single submitter
-
ATP6AP2 p.Ser59Cys
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Ser95Leu Uncertain significance Single submitter
- ATP6AP2 p.Thr150Ile Uncertain significance Single submitter
-
ATP6AP2 p.Thr150Ser
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Tyr293Ser
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
-
ATP6AP2 p.Tyr96Phe
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Val149Phe Uncertain significance Single submitter
-
ATP6AP2 p.Val189Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6AP2 p.Val260Met Uncertain significance Single submitter
-
ATP6AP2 p.Val305Met
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Hedera type
- ATP6AP2 p.Val80Leu Uncertain significance Single submitter
All ATP6AP2 variants
Pathogenic 5
- p.Asp107= Multiple submitters syndromic X-linked intellectual disability Hedera type
- p.Ser95Ter Single submitter syndromic X-linked intellectual disability Hedera type
- c.301-11_301-10del No assertion criteria syndromic X-linked intellectual disability Hedera type
- p.Leu98Ser No assertion criteria congenital disorder of glycosylation, type IIr
- p.Ser115= No assertion criteria X-linked parkinsonism-spasticity syndrome
Likely pathogenic 1
- p.Asp210Tyr Single submitter syndromic X-linked intellectual disability Hedera type
Conflicting classifications of pathogenicity 13
- c.534+7G>A Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ala286= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ala64Thr Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Arg152His Single submitter Inborn genetic diseases ⚠
- p.Arg73Trp Single submitter Inborn genetic diseases ⚠
- p.Asn308His Single submitter Inborn genetic diseases ⚠
- p.Asn327Ser Single submitter Inborn genetic diseases ⚠
- p.Asp180Gly Single submitter Inborn genetic diseases ⚠
- p.Leu7Phe Single submitter Inborn genetic diseases ⚠
- p.Met314Leu Single submitter Inborn genetic diseases ⚠
- p.Pro122Leu Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Thr75= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Val164Ile Single submitter Inborn genetic diseases ⚠
Benign 23
- c.301-204A>T Multiple submitters
- c.301-206T>C Multiple submitters
- c.534+45G>C Multiple submitters congenital disorder of glycosylation, type IIr
- c.588+260G>A Multiple submitters
- c.738+92T>C Multiple submitters
- c.739-165A>C Multiple submitters
- c.858+83A>T Multiple submitters
- c.859-150G>A Multiple submitters
- c.*266A>T Multiple submitters
- p.Ala290Pro Multiple submitters Inborn genetic diseases
- p.Pro90Ala Multiple submitters Inborn genetic diseases
- p.Ser95= Multiple submitters History of neurodevelopmental disorder
- p.Tyr255= Multiple submitters Inborn genetic diseases
- c.38-281TTTG[3] Single submitter
- c.534+169T>C Single submitter
- c.534+230G>A Single submitter
- c.738+53C>T Single submitter
- c.858+61_858+63dup Single submitter
- c.858+62_858+63dup Single submitter
- c.858+63dup Single submitter
- c.-35G>C Single submitter
- c.-46C>A Single submitter
- p.Asp44= Single submitter syndromic X-linked intellectual disability Hedera type
Benign/Likely benign 5
- c.38-5T>C Multiple submitters syndromic X-linked intellectual disability Hedera type
- c.534+10G>C Multiple submitters syndromic X-linked intellectual disability Hedera type
- p.Asp350= Multiple submitters congenital disorder of glycosylation, type IIr
- p.Glu119= Multiple submitters syndromic X-linked intellectual disability Hedera type
- p.Leu63= Multiple submitters History of neurodevelopmental disorder
Likely benign 91
- c.300+19A>C Multiple submitters syndromic X-linked intellectual disability Hedera type
- c.38-104G>A Multiple submitters
- c.397-13A>G Multiple submitters syndromic X-linked intellectual disability Hedera type
- c.534+8C>T Multiple submitters syndromic X-linked intellectual disability Hedera type
- c.588+7A>G Multiple submitters syndromic X-linked intellectual disability Hedera type
- c.859-11C>T Multiple submitters syndromic X-linked intellectual disability Hedera type
- c.-120G>C Multiple submitters
- c.-157T>C Multiple submitters
- c.-224C>T Multiple submitters
- c.-283G>T Multiple submitters
- p.Ala74= Multiple submitters syndromic X-linked intellectual disability Hedera type
- p.Arg133Lys Multiple submitters syndromic X-linked intellectual disability Hedera type ⚠
- p.Asn17= Multiple submitters syndromic X-linked intellectual disability Hedera type
- p.Glu40= Multiple submitters syndromic X-linked intellectual disability Hedera type
- p.Ile274= Multiple submitters syndromic X-linked intellectual disability Hedera type
- p.Leu158= Multiple submitters syndromic X-linked intellectual disability Hedera type
- p.Phe144= Multiple submitters syndromic X-linked intellectual disability Hedera type
- p.Ser172= Multiple submitters Inborn genetic diseases
- c.168+15T>G Single submitter syndromic X-linked intellectual disability Hedera type
- c.168+7A>G Single submitter syndromic X-linked intellectual disability Hedera type
- c.300+309G>C Single submitter
- c.301-295G>A Single submitter
- c.301-34A>T Single submitter
- c.37+12G>A Single submitter syndromic X-linked intellectual disability Hedera type
- c.37+17C>G Single submitter syndromic X-linked intellectual disability Hedera type
- c.38-13G>A Single submitter syndromic X-linked intellectual disability Hedera type
- c.396+18T>C Single submitter syndromic X-linked intellectual disability Hedera type
- c.396+20T>C Single submitter
- c.397-16T>G Single submitter syndromic X-linked intellectual disability Hedera type
- c.397-9T>A Single submitter syndromic X-linked intellectual disability Hedera type
- c.534+10G>A Single submitter syndromic X-linked intellectual disability Hedera type
- c.534+14T>A Single submitter syndromic X-linked intellectual disability Hedera type
- c.534+16C>T Single submitter syndromic X-linked intellectual disability Hedera type
- c.534+191C>A Single submitter
- c.535-14dup Single submitter
- c.535-14T>G Single submitter syndromic X-linked intellectual disability Hedera type
- c.535-312G>A Single submitter
- c.589-12T>C Single submitter syndromic X-linked intellectual disability Hedera type
- c.589-19G>A Single submitter syndromic X-linked intellectual disability Hedera type
- c.589-6C>T Single submitter syndromic X-linked intellectual disability Hedera type
- c.738+10A>T Single submitter syndromic X-linked intellectual disability Hedera type
- c.738+11A>C Single submitter syndromic X-linked intellectual disability Hedera type
- c.738+11A>G Single submitter syndromic X-linked intellectual disability Hedera type
- c.738+15G>A Single submitter syndromic X-linked intellectual disability Hedera type
- c.738+8T>A Single submitter syndromic X-linked intellectual disability Hedera type
- c.739-5T>G Single submitter
- c.859-11C>G Single submitter syndromic X-linked intellectual disability Hedera type
- c.859-2A>G Single submitter syndromic X-linked intellectual disability Hedera type
- c.859-5T>C Single submitter syndromic X-linked intellectual disability Hedera type
- c.859-9A>G Single submitter syndromic X-linked intellectual disability Hedera type
- c.-248A>T Single submitter
- c.-36C>T Single submitter
- p.Ala101= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ala2= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ala259= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ala296= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ala316= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ala318= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ala64= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ala9= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Arg155= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Arg234= Single submitter
- p.Arg278= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Asn141= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Asn84= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Asp336= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Gln245= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ile315= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Leu106Ile Single submitter ⚠
- p.Leu168= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Leu182= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Leu203= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Leu211= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Leu273= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Lys55= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Pro169= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Pro38= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ser108= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ser130= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ser148= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ser198= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ser20= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ser230= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Ser49= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Tyr226= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Tyr297= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Tyr340= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Val11= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Val124= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Val137= Single submitter syndromic X-linked intellectual disability Hedera type
- p.Val310= Single submitter syndromic X-linked intellectual disability Hedera type
Uncertain significance 127
- p.Ala259Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg155Cys Multiple submitters syndromic X-linked intellectual disability Hedera type ⚠
- p.Arg199His Multiple submitters Inborn genetic diseases ⚠
- p.Arg41Gln Multiple submitters congenital disorder of glycosylation, type IIr ⚠
- p.Asn17Ser Multiple submitters syndromic X-linked intellectual disability Hedera type ⚠
- p.Asp242Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gly16Glu Multiple submitters ATP6AP2-related disorder ⚠
- p.Gly33Glu Multiple submitters syndromic X-linked intellectual disability Hedera type ⚠
- p.Leu125Phe Multiple submitters syndromic X-linked intellectual disability Hedera type ⚠
- p.Ser167Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser53Phe Multiple submitters ATP6AP2-related disorder ⚠
- p.Ser92Asn Multiple submitters ATP6AP2-related disorder ⚠
- p.Tyr293Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val54Leu Multiple submitters syndromic X-linked intellectual disability Hedera type ⚠
- p.Val78Leu Multiple submitters syndromic X-linked intellectual disability Hedera type ⚠
- c.168+3A>G Single submitter syndromic X-linked intellectual disability Hedera type
- c.168+6T>A Single submitter Inborn genetic diseases
- c.300+4A>G Single submitter
- c.37+5G>A Single submitter syndromic X-linked intellectual disability Hedera type
- c.38-8C>G Single submitter
- c.534+55A>G Single submitter
- c.535-11dup Single submitter
- c.588+4A>G Single submitter
- c.589-3A>G Single submitter syndromic X-linked intellectual disability Hedera type
- c.739-5_739-4del Single submitter syndromic X-linked intellectual disability Hedera type
- c.739-7C>A Single submitter
- c.858+4A>G Single submitter syndromic X-linked intellectual disability Hedera type
- c.-70C>T Single submitter
- c.*640A>G Single submitter
- p.Ala110Thr Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Ala128Pro Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Ala128Val Single submitter ⚠
- p.Ala12Val Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Ala217Glu Single submitter Inborn genetic diseases ⚠
- p.Ala236Gly Single submitter Inborn genetic diseases ⚠
- p.Ala243Thr Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Ala286Val Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Ala316Thr Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Ala318Asp Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Ala87Pro Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Arg152Cys Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Arg155Gly Single submitter ⚠
- p.Arg155His Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Arg157Cys Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Arg199Cys Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Arg225Cys Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Arg225His Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Arg278Gly Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Arg31Gln Single submitter ⚠
- p.Arg341Ser Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Arg41Trp Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Arg71Cys Single submitter ⚠
- p.Arg71His Single submitter congenital disorder of glycosylation, type IIr ⚠
- p.Arg73Gln Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Arg73Gly Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Asn177Asp Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Asn177Ser Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Asn327Asp Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Asp206Glu Single submitter ⚠
- p.Asp210Gly Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Asp249Gly Single submitter ⚠
- p.Asp57Asn Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Gln245Arg Single submitter ⚠
- p.Glu18Lys Single submitter Inborn genetic diseases ⚠
- p.Glu231Val Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Glu56Lys Single submitter Inborn genetic diseases ⚠
- p.Glu99Lys Single submitter ⚠
- p.Gly256Cys Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.His114Tyr Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.His70Leu Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Ile21Met Single submitter ⚠
- p.Ile222Met Single submitter ⚠
- p.Ile280Met Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Ile280Val Single submitter ⚠
- p.Ile322Phe Single submitter ⚠
- p.Ile323Val Single submitter ⚠
- p.Ile339Thr Single submitter ⚠
- p.Ile339Val Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Leu10Phe Single submitter ⚠
- p.Leu151Ser Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Leu170Ile Single submitter ⚠
- p.Leu196= Single submitter
- p.Leu22Phe Single submitter ⚠
- p.Leu273Phe Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Leu273Pro Single submitter Inborn genetic diseases ⚠
- p.Leu281Phe Single submitter ⚠
- p.Leu88Val Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Lys205Asn Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Met136Ile Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Met136Thr Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Met251Thr Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Met314Ile Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Met331Val Single submitter ⚠
- p.Phe117Leu Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Pro122His Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Pro129Ala Single submitter ⚠
- p.Pro36Ser Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Pro43Ser Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Pro89Ser Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Pro97Ser Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Ser105Arg Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Ser108Asn Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Ser166Cys Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Ser185Cys Single submitter ⚠
- p.Ser208Pro Single submitter ⚠
- p.Ser337Arg Single submitter ⚠
- p.Ser59Cys Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Ser95Leu Single submitter ⚠
- p.Thr150Ile Single submitter ⚠
- p.Thr150Ser Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Thr271Ser Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Thr279Ala Single submitter ⚠
- p.Thr343Arg Single submitter congenital disorder of glycosylation, type IIr ⚠
- p.Tyr255His Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Tyr293Ser Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Tyr96Phe Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Val109Leu Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Val11Ala Single submitter ⚠
- p.Val143Ala Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Val149Phe Single submitter ⚠
- p.Val179Ala Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Val189Met Single submitter Inborn genetic diseases ⚠
- p.Val260Met Single submitter ⚠
- p.Val305Met Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Val321Met Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Val76Ile Single submitter syndromic X-linked intellectual disability Hedera type ⚠
- p.Val80Leu Single submitter ⚠