ALDH4A1 — 360 ClinVar variants
All ClinVar germline ALDH4A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →
4 Pathogenic · 3 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 31 Conflicting · 31 Benign · 6 Benign/Likely benign · 117 Likely benign · 150 Uncertain significance
Full ALDH4A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 130
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 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ALDH4A1 p.Ala164Pro
Conflicting
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Ala560Ser Conflicting Single submitter
-
ALDH4A1 p.Asp123Glu
Conflicting
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Gly366Arg
Conflicting
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Gly502Asp Conflicting Single submitter
-
ALDH4A1 p.His358Arg
Conflicting
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Ile121Val
Conflicting
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Ser352Leu
Conflicting
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Thr528Asn
Conflicting
Single submitter
hyperprolinemia type 2
Predictors lean, ClinVar uncertain 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ALDH4A1 p.Ala560Thr
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Asp70Asn
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Gly418Arg
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Ser510Cys
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Trp361Ser
Uncertain significance
Multiple submitters
hyperprolinemia type 2
- ALDH4A1 p.Ala33Thr Uncertain significance Single submitter
- ALDH4A1 p.Ala33Val Uncertain significance Single submitter
- ALDH4A1 p.Ala560Gly Uncertain significance Single submitter
-
ALDH4A1 p.Arg113Gln
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Arg325His
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Arg374Gln Uncertain significance Single submitter
- ALDH4A1 p.Asp508Gly Uncertain significance Single submitter
-
ALDH4A1 p.Gln126Arg
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Gly199Ala
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Gly281Val
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Gly450Arg
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Gly502Ser
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Gly521Arg Uncertain significance Single submitter
- ALDH4A1 p.His293Arg Uncertain significance Single submitter
-
ALDH4A1 p.Ile121Thr
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Ile160Thr
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Leu118Pro
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Leu30Pro Uncertain significance Single submitter
-
ALDH4A1 p.Lys233Arg
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Lys292Gln
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Lys464Glu Uncertain significance Single submitter
- ALDH4A1 p.Phe169Leu Uncertain significance Single submitter
-
ALDH4A1 p.Phe172Leu
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Pro190Leu
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Pro209Ser Uncertain significance Single submitter
-
ALDH4A1 p.Pro357Leu
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Ser287Thr Uncertain significance Single submitter
-
ALDH4A1 p.Thr479Ser
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Val434Leu Uncertain significance Single submitter
- ALDH4A1 p.Val490Leu Uncertain significance Single submitter
Predictors split 86
The independent predictors disagree with each other — read with care.
-
ALDH4A1 p.Ala145Thr
Benign/Likely benign
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Ala162Thr
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Ala163Thr
Uncertain significance
Multiple submitters
Seizure
-
ALDH4A1 p.Ala220Pro
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Ala238Thr
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Arg171Gln
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Arg23Trp
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Arg247Cys
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Arg247His
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Arg338Cys
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Arg399His
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Arg524Gln
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Ile127Met
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Ile186Thr
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Phe388Leu
Benign/Likely benign
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Pro544Leu
Benign/Likely benign
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Thr414Ala
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Thr473Ala
Benign
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Thr542Met
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Tyr561Asn
Uncertain significance
Multiple submitters
hyperprolinemia type 2
-
ALDH4A1 p.Val67Met
Uncertain significance
Multiple submitters
hyperprolinemia type 2
- ALDH4A1 p.Ala108Asp Uncertain significance Single submitter
- ALDH4A1 p.Ala11Asp Uncertain significance Single submitter
- ALDH4A1 p.Ala131Val Uncertain significance Single submitter
- ALDH4A1 p.Ala141Ser Uncertain significance Single submitter
-
ALDH4A1 p.Ala141Thr
Conflicting
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Ala164Val Uncertain significance Single submitter
-
ALDH4A1 p.Ala20Asp
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Ala220Val
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Ala350Ser
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Ala381Val Uncertain significance Single submitter
-
ALDH4A1 p.Ala407Ser
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Ala407Val
Uncertain significance
Single submitter
Seizure
- ALDH4A1 p.Ala500Val Uncertain significance Single submitter
-
ALDH4A1 p.Arg113Trp
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Arg139Cys
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Arg139Leu
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Arg15His Uncertain significance Single submitter
-
ALDH4A1 p.Arg198Gln
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Arg247Leu
Conflicting
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Arg250Gln
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Arg367Trp
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Arg399Cys
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Arg408Cys Uncertain significance Single submitter
-
ALDH4A1 p.Arg540Cys
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Arg60Trp
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Arg9Cys Uncertain significance Single submitter
-
ALDH4A1 p.Asp133Tyr
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Asp422Gly
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Asp438Glu
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Cys421Arg
Conflicting
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Cys421Tyr
Uncertain significance
Single submitter
MHC class II deficiency 1
- ALDH4A1 p.Gln491Arg Likely benign Single submitter
- ALDH4A1 p.Glu179Lys Uncertain significance Single submitter
-
ALDH4A1 p.Gly516Asp
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Ile106Thr Uncertain significance Single submitter
-
ALDH4A1 p.Leu354Phe
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Lys114Thr
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Lys365Gln
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Lys462Arg Uncertain significance Single submitter
-
ALDH4A1 p.Lys462Thr
Likely benign
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Phe128Leu Uncertain significance Single submitter
-
ALDH4A1 p.Pro138Leu
Conflicting
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Pro256Arg
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Pro267His
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Pro362Gln
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Pro459Leu
Uncertain significance
Single submitter
intellectual disability
- ALDH4A1 p.Pro45Leu Uncertain significance Single submitter
- ALDH4A1 p.Pro553Ala Uncertain significance Single submitter
- ALDH4A1 p.Ser359Ala Uncertain significance Single submitter
- ALDH4A1 p.Ser359Leu Uncertain significance Single submitter
-
ALDH4A1 p.Ser409Phe
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Ser412Arg
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Ser76Leu Uncertain significance Single submitter
- ALDH4A1 p.Thr386Pro Uncertain significance Single submitter
- ALDH4A1 p.Thr473Asn Uncertain significance Single submitter
-
ALDH4A1 p.Thr542Ala
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Thr75Arg Uncertain significance Single submitter
-
ALDH4A1 p.Tyr80Cys
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Val149Glu
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Val204Met Uncertain significance Single submitter
-
ALDH4A1 p.Val332Met
Uncertain significance
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Val429Leu
Uncertain significance
Single submitter
hyperprolinemia type 2
- ALDH4A1 p.Val434Met Uncertain significance Single submitter
-
ALDH4A1 p.Val82Met
Conflicting
Single submitter
hyperprolinemia type 2
-
ALDH4A1 p.Val155Met
Likely benign
No assertion criteria
intellectual disability
All ALDH4A1 variants
Pathogenic 4
- p.Arg23_Trp24insTer Single submitter hyperprolinemia type 2
- p.Gln151Ter Single submitter hyperprolinemia type 2
- p.His321fs Single submitter hyperprolinemia type 2
- p.Val67fs Single submitter hyperprolinemia type 2
Pathogenic/Likely pathogenic 3
- c.866+1G>A Multiple submitters hyperprolinemia type 2
- p.Arg47Ter Multiple submitters hyperprolinemia type 2
- p.Gly521fs Multiple submitters hyperprolinemia type 2
Likely pathogenic 18
- p.Leu8fs Multiple submitters hyperprolinemia type 2
- c.1461-2A>G Single submitter hyperprolinemia type 2
- c.1580-2A>G Single submitter hyperprolinemia type 2
- c.250-2A>G Single submitter hyperprolinemia type 2
- c.298-1G>C Single submitter hyperprolinemia type 2
- c.453+1G>A Single submitter hyperprolinemia type 2
- p.Ala214fs Single submitter
- p.Arg124fs Single submitter hyperprolinemia type 2
- p.Arg353fs Single submitter hyperprolinemia type 2
- p.Gly385fs Single submitter hyperprolinemia type 2
- p.Leu12fs Single submitter hyperprolinemia type 2
- p.Lys119fs Single submitter hyperprolinemia type 2
- p.Lys233fs Single submitter hyperprolinemia type 2
- p.Lys445Ter Single submitter hyperprolinemia type 2
- p.Pro185fs Single submitter hyperprolinemia type 2
- p.Pro380fs Single submitter hyperprolinemia type 2
- p.Pro65fs Single submitter
- p.Tyr80Ter Single submitter hyperprolinemia type 2
Conflicting classifications of pathogenicity 31
- c.1185+10G>A Single submitter hyperprolinemia type 2
- c.1186-11G>A Single submitter hyperprolinemia type 2
- c.298-14C>T Single submitter hyperprolinemia type 2
- c.678+3G>A Single submitter hyperprolinemia type 2
- p.Ala141Thr Single submitter hyperprolinemia type 2 ⚠
- p.Ala164Pro Single submitter hyperprolinemia type 2 ⚠
- p.Ala560Ser Single submitter ⚠
- p.Arg247Leu Single submitter hyperprolinemia type 2 ⚠
- p.Arg524Ter Single submitter hyperprolinemia type 2
- p.Asn34= Single submitter hyperprolinemia type 2
- p.Asp123Glu Single submitter hyperprolinemia type 2 ⚠
- p.Cys421Arg Single submitter hyperprolinemia type 2 ⚠
- p.Gly216= Single submitter hyperprolinemia type 2
- p.Gly366= Single submitter hyperprolinemia type 2
- p.Gly366Arg Single submitter hyperprolinemia type 2 ⚠
- p.Gly502Asp Single submitter ⚠
- p.His358Arg Single submitter hyperprolinemia type 2 ⚠
- p.His406= Single submitter hyperprolinemia type 2
- p.Ile121Val Single submitter hyperprolinemia type 2 ⚠
- p.Ile443fs Single submitter hyperprolinemia type 2
- p.Leu50= Single submitter hyperprolinemia type 2
- p.Lys292= Single submitter hyperprolinemia type 2
- p.Met1Val Single submitter hyperprolinemia type 2
- p.Pro138Leu Single submitter hyperprolinemia type 2 ⚠
- p.Pro362= Single submitter hyperprolinemia type 2
- p.Pro45= Single submitter hyperprolinemia type 2
- p.Pro459= Single submitter hyperprolinemia type 2
- p.Ser352Leu Single submitter hyperprolinemia type 2 ⚠
- p.Ser76= Single submitter hyperprolinemia type 2
- p.Thr528Asn Single submitter hyperprolinemia type 2 ⚠
- p.Val82Met Single submitter hyperprolinemia type 2 ⚠
Benign 31
- c.1338+39A>G Multiple submitters hyperprolinemia type 2
- c.1579+49C>G Multiple submitters hyperprolinemia type 2
- c.1580-22A>T Multiple submitters hyperprolinemia type 2
- c.249+22A>G Multiple submitters hyperprolinemia type 2
- c.250-17C>T Multiple submitters hyperprolinemia type 2
- c.678+75T>C Multiple submitters hyperprolinemia type 2
- c.941-48C>T Multiple submitters hyperprolinemia type 2
- c.941-67T>C Multiple submitters hyperprolinemia type 2
- c.*118G>A Multiple submitters hyperprolinemia type 2
- c.*1198A>G Multiple submitters hyperprolinemia type 2
- c.*1239G>C Multiple submitters hyperprolinemia type 2
- c.*1275A>C Multiple submitters hyperprolinemia type 2
- c.*444T>C Multiple submitters hyperprolinemia type 2
- c.*502A>G Multiple submitters hyperprolinemia type 2
- c.*702C>T Multiple submitters hyperprolinemia type 2
- c.*712C>T Multiple submitters hyperprolinemia type 2
- c.*763T>C Multiple submitters hyperprolinemia type 2
- c.*921G>A Multiple submitters hyperprolinemia type 2
- c.*925C>T Multiple submitters hyperprolinemia type 2
- p.Ala350= Multiple submitters hyperprolinemia type 2
- p.Ala407= Multiple submitters hyperprolinemia type 2
- p.Ala417= Multiple submitters hyperprolinemia type 2
- p.Asp460= Multiple submitters hyperprolinemia type 2
- p.Gly516= Multiple submitters hyperprolinemia type 2
- p.Ser410= Multiple submitters hyperprolinemia type 2
- p.Thr473Ala Multiple submitters hyperprolinemia type 2 ⚠
- p.Thr75= Multiple submitters hyperprolinemia type 2
- p.Val470Ile Multiple submitters hyperprolinemia type 2
- c.1461-109C>T Single submitter hyperprolinemia type 2
- c.1461-137dup Single submitter hyperprolinemia type 2
- p.Pro138= Single submitter hyperprolinemia type 2
Benign/Likely benign 6
- c.603+14G>A Multiple submitters hyperprolinemia type 2
- p.Ala145Thr Multiple submitters hyperprolinemia type 2 ⚠
- p.Ile248= Multiple submitters hyperprolinemia type 2
- p.Phe388Leu Multiple submitters hyperprolinemia type 2 ⚠
- p.Pro544Leu Multiple submitters hyperprolinemia type 2 ⚠
- p.Thr195Met Multiple submitters hyperprolinemia type 2
Likely benign 117
- c.*35C>T Multiple submitters hyperprolinemia type 2
- c.*903C>T Multiple submitters hyperprolinemia type 2
- p.Arg60Gln Multiple submitters hyperprolinemia type 2
- p.Cys315= Multiple submitters hyperprolinemia type 2
- p.Gly316= Multiple submitters hyperprolinemia type 2
- p.Ile215= Multiple submitters hyperprolinemia type 2
- p.Leu144= Multiple submitters hyperprolinemia type 2
- p.Thr550= Multiple submitters hyperprolinemia type 2
- p.Val489= Multiple submitters hyperprolinemia type 2
- c.1137+12C>T Single submitter hyperprolinemia type 2
- c.1137+13G>A Single submitter hyperprolinemia type 2
- c.1137+17C>G Single submitter hyperprolinemia type 2
- c.1138-11C>T Single submitter hyperprolinemia type 2
- c.1138-12_1138-11del Single submitter hyperprolinemia type 2
- c.1138-18C>T Single submitter hyperprolinemia type 2
- c.1138-20G>A Single submitter hyperprolinemia type 2
- c.1138-4C>T Single submitter hyperprolinemia type 2
- c.1138-6C>T Single submitter hyperprolinemia type 2
- c.1338+19C>T Single submitter hyperprolinemia type 2
- c.1338+7G>A Single submitter hyperprolinemia type 2
- c.1460+11A>G Single submitter hyperprolinemia type 2
- c.1460+16G>C Single submitter hyperprolinemia type 2
- c.1461-11_1461-7del Single submitter hyperprolinemia type 2
- c.1461-12T>C Single submitter hyperprolinemia type 2
- c.1461-6T>C Single submitter hyperprolinemia type 2
- c.1579+11C>T Single submitter hyperprolinemia type 2
- c.1580-16del Single submitter hyperprolinemia type 2
- c.1580-4G>T Single submitter hyperprolinemia type 2
- c.249+9A>G Single submitter hyperprolinemia type 2
- c.297+10C>T Single submitter hyperprolinemia type 2
- c.298-20A>G Single submitter hyperprolinemia type 2
- c.453+16G>C Single submitter hyperprolinemia type 2
- c.453+17C>T Single submitter hyperprolinemia type 2
- c.453+19C>T Single submitter hyperprolinemia type 2
- c.453+20G>T Single submitter hyperprolinemia type 2
- c.454-17G>A Single submitter hyperprolinemia type 2
- c.454-18C>T Single submitter hyperprolinemia type 2
- c.603+8C>T Single submitter hyperprolinemia type 2
- c.604-17G>A Single submitter hyperprolinemia type 2
- c.604-18C>T Single submitter hyperprolinemia type 2
- c.679-7C>T Single submitter hyperprolinemia type 2
- c.867-10G>C Single submitter hyperprolinemia type 2
- c.940+16C>T Single submitter hyperprolinemia type 2
- c.941-12C>T Single submitter hyperprolinemia type 2
- p.Ala108= Single submitter hyperprolinemia type 2
- p.Ala141= Single submitter
- p.Ala164= Single submitter hyperprolinemia type 2
- p.Ala177= Single submitter hyperprolinemia type 2
- p.Ala205= Single submitter hyperprolinemia type 2
- p.Ala238= Single submitter hyperprolinemia type 2
- p.Ala398= Single submitter hyperprolinemia type 2
- p.Ala49= Single submitter hyperprolinemia type 2
- p.Ala493= Single submitter hyperprolinemia type 2
- p.Ala501= Single submitter hyperprolinemia type 2
- p.Arg247= Single submitter hyperprolinemia type 2
- p.Arg367= Single submitter hyperprolinemia type 2
- p.Asn228= Single submitter hyperprolinemia type 2
- p.Asn301= Single submitter hyperprolinemia type 2
- p.Asn507= Single submitter hyperprolinemia type 2
- p.Asp161= Single submitter hyperprolinemia type 2
- p.Asp328= Single submitter hyperprolinemia type 2
- p.Asp488= Single submitter hyperprolinemia type 2
- p.Cys351= Single submitter hyperprolinemia type 2
- p.Gln491Arg Single submitter ⚠
- p.Gln517= Single submitter hyperprolinemia type 2
- p.Glu330Asp Single submitter
- p.Glu35= Single submitter hyperprolinemia type 2
- p.Gly21= Single submitter
- p.Gly253= Single submitter hyperprolinemia type 2
- p.Gly335= Single submitter hyperprolinemia type 2
- p.Gly521= Single submitter hyperprolinemia type 2
- p.Gly534= Single submitter hyperprolinemia type 2
- p.His278= Single submitter hyperprolinemia type 2
- p.Ile167= Single submitter hyperprolinemia type 2
- p.Ile433= Single submitter hyperprolinemia type 2
- p.Ile547= Single submitter hyperprolinemia type 2
- p.Leu110= Single submitter
- p.Leu129= Single submitter hyperprolinemia type 2
- p.Leu200= Single submitter hyperprolinemia type 2
- p.Leu231= Single submitter hyperprolinemia type 2
- p.Leu30= Single submitter hyperprolinemia type 2
- p.Leu413= Single submitter hyperprolinemia type 2
- p.Lys114= Single submitter hyperprolinemia type 2
- p.Lys233= Single submitter hyperprolinemia type 2
- p.Lys347= Single submitter
- p.Lys437= Single submitter hyperprolinemia type 2
- p.Lys462Thr Single submitter hyperprolinemia type 2 ⚠
- p.Phe169= Single submitter hyperprolinemia type 2
- p.Phe341= Single submitter hyperprolinemia type 2
- p.Phe449= Single submitter
- p.Pro267= Single submitter hyperprolinemia type 2
- p.Pro36= Single submitter hyperprolinemia type 2
- p.Pro4= Single submitter
- p.Ser187= Single submitter hyperprolinemia type 2
- p.Ser208= Single submitter hyperprolinemia type 2
- p.Ser235= Single submitter hyperprolinemia type 2
- p.Ser276= Single submitter hyperprolinemia type 2
- p.Ser331= Single submitter
- p.Ser359= Single submitter hyperprolinemia type 2
- p.Ser409= Single submitter hyperprolinemia type 2
- p.Ser424= Single submitter hyperprolinemia type 2
- p.Ser543= Single submitter hyperprolinemia type 2
- p.Ser558= Single submitter hyperprolinemia type 2
- p.Thr154= Single submitter hyperprolinemia type 2
- p.Thr41= Single submitter hyperprolinemia type 2
- p.Thr466= Single submitter hyperprolinemia type 2
- p.Tyr427= Single submitter hyperprolinemia type 2
- p.Tyr559= Single submitter hyperprolinemia type 2
- p.Val37Ile Single submitter
- c.453+10_453+13del No assertion criteria ALDH4A1-related disorder
- c.453+10T>G No assertion criteria ALDH4A1-related disorder
- c.*10G>T No assertion criteria ALDH4A1-related disorder
- p.Glu35Lys No assertion criteria intellectual disability
- p.Ile167Phe No assertion criteria intellectual disability
- p.Ser29= No assertion criteria ALDH4A1-related disorder
- p.Val155Met No assertion criteria intellectual disability ⚠
- p.Val496= No assertion criteria ALDH4A1-related disorder
Uncertain significance 150
- c.*272C>T Multiple submitters hyperprolinemia type 2
- c.*646G>A Multiple submitters hyperprolinemia type 2
- p.4PA[1] Multiple submitters hyperprolinemia type 2
- p.Ala162Thr Multiple submitters hyperprolinemia type 2 ⚠
- p.Ala163Thr Multiple submitters Seizure ⚠
- p.Ala220Pro Multiple submitters hyperprolinemia type 2 ⚠
- p.Ala238Thr Multiple submitters hyperprolinemia type 2 ⚠
- p.Ala560Thr Multiple submitters hyperprolinemia type 2 ⚠
- p.Arg171Gln Multiple submitters hyperprolinemia type 2 ⚠
- p.Arg23Trp Multiple submitters hyperprolinemia type 2 ⚠
- p.Arg247Cys Multiple submitters hyperprolinemia type 2 ⚠
- p.Arg247His Multiple submitters hyperprolinemia type 2 ⚠
- p.Arg338Cys Multiple submitters hyperprolinemia type 2 ⚠
- p.Arg399His Multiple submitters hyperprolinemia type 2 ⚠
- p.Arg524Gln Multiple submitters hyperprolinemia type 2 ⚠
- p.Asp379= Multiple submitters hyperprolinemia type 2
- p.Asp70Asn Multiple submitters hyperprolinemia type 2 ⚠
- p.Gly418Arg Multiple submitters hyperprolinemia type 2 ⚠
- p.Ile127Met Multiple submitters hyperprolinemia type 2 ⚠
- p.Ile186Thr Multiple submitters hyperprolinemia type 2 ⚠
- p.Ser510Cys Multiple submitters hyperprolinemia type 2 ⚠
- p.Thr414Ala Multiple submitters hyperprolinemia type 2 ⚠
- p.Thr542Met Multiple submitters hyperprolinemia type 2 ⚠
- p.Trp361Ser Multiple submitters hyperprolinemia type 2 ⚠
- p.Tyr561Asn Multiple submitters hyperprolinemia type 2 ⚠
- p.Val67Met Multiple submitters hyperprolinemia type 2 ⚠
- c.1185+4C>T Single submitter hyperprolinemia type 2
- c.156+6G>A Single submitter hyperprolinemia type 2
- c.157-14G>A Single submitter hyperprolinemia type 2
- c.1580-5C>T Single submitter hyperprolinemia type 2
- c.250-6T>A Single submitter hyperprolinemia type 2
- c.679-6G>A Single submitter hyperprolinemia type 2
- c.-24G>A Single submitter hyperprolinemia type 2
- c.-26G>T Single submitter hyperprolinemia type 2
- c.*1040C>T Single submitter hyperprolinemia type 2
- c.*1041G>A Single submitter hyperprolinemia type 2
- c.*1152G>T Single submitter hyperprolinemia type 2
- c.*1173C>T Single submitter hyperprolinemia type 2
- c.*1182G>C Single submitter hyperprolinemia type 2
- c.*1197C>G Single submitter hyperprolinemia type 2
- c.*1199A>C Single submitter hyperprolinemia type 2
- c.*122T>C Single submitter hyperprolinemia type 2
- c.*189G>A Single submitter hyperprolinemia type 2
- c.*19C>T Single submitter hyperprolinemia type 2
- c.*210C>A Single submitter hyperprolinemia type 2
- c.*223G>A Single submitter hyperprolinemia type 2
- c.*367C>T Single submitter hyperprolinemia type 2
- c.*464G>A Single submitter hyperprolinemia type 2
- c.*690G>A Single submitter hyperprolinemia type 2
- c.*711C>G Single submitter hyperprolinemia type 2
- c.*719C>T Single submitter hyperprolinemia type 2
- c.*776C>T Single submitter hyperprolinemia type 2
- c.*900G>C Single submitter hyperprolinemia type 2
- c.*944C>T Single submitter hyperprolinemia type 2
- c.*9C>T Single submitter hyperprolinemia type 2
- p.Ala108Asp Single submitter ⚠
- p.Ala11Asp Single submitter ⚠
- p.Ala131Val Single submitter ⚠
- p.Ala141Ser Single submitter ⚠
- p.Ala164Val Single submitter ⚠
- p.Ala20Asp Single submitter hyperprolinemia type 2 ⚠
- p.Ala220Val Single submitter hyperprolinemia type 2 ⚠
- p.Ala33Thr Single submitter ⚠
- p.Ala33Val Single submitter ⚠
- p.Ala350Ser Single submitter hyperprolinemia type 2 ⚠
- p.Ala381Val Single submitter ⚠
- p.Ala407Ser Single submitter hyperprolinemia type 2 ⚠
- p.Ala407Val Single submitter Seizure ⚠
- p.Ala500Val Single submitter ⚠
- p.Ala523fs Single submitter
- p.Ala560Gly Single submitter ⚠
- p.Arg113Gln Single submitter hyperprolinemia type 2 ⚠
- p.Arg113Trp Single submitter hyperprolinemia type 2 ⚠
- p.Arg139Cys Single submitter hyperprolinemia type 2 ⚠
- p.Arg139Leu Single submitter hyperprolinemia type 2 ⚠
- p.Arg15His Single submitter ⚠
- p.Arg198Gln Single submitter hyperprolinemia type 2 ⚠
- p.Arg250Gln Single submitter hyperprolinemia type 2 ⚠
- p.Arg325His Single submitter hyperprolinemia type 2 ⚠
- p.Arg367Trp Single submitter hyperprolinemia type 2 ⚠
- p.Arg374Gln Single submitter ⚠
- p.Arg399Cys Single submitter hyperprolinemia type 2 ⚠
- p.Arg408Cys Single submitter ⚠
- p.Arg540Cys Single submitter hyperprolinemia type 2 ⚠
- p.Arg60Trp Single submitter hyperprolinemia type 2 ⚠
- p.Arg9Cys Single submitter ⚠
- p.Asp133Tyr Single submitter hyperprolinemia type 2 ⚠
- p.Asp422Gly Single submitter hyperprolinemia type 2 ⚠
- p.Asp438Glu Single submitter hyperprolinemia type 2 ⚠
- p.Asp508Gly Single submitter ⚠
- p.Cys421Tyr Single submitter MHC class II deficiency 1 ⚠
- p.Cys66= Single submitter hyperprolinemia type 2
- p.Gln126Arg Single submitter hyperprolinemia type 2 ⚠
- p.Glu179Lys Single submitter ⚠
- p.Gly199Ala Single submitter hyperprolinemia type 2 ⚠
- p.Gly281Val Single submitter hyperprolinemia type 2 ⚠
- p.Gly378= Single submitter hyperprolinemia type 2
- p.Gly450Arg Single submitter hyperprolinemia type 2 ⚠
- p.Gly502Ser Single submitter hyperprolinemia type 2 ⚠
- p.Gly516Asp Single submitter hyperprolinemia type 2 ⚠
- p.Gly521Arg Single submitter ⚠
- p.Gly534fs Single submitter hyperprolinemia type 2
- p.His293Arg Single submitter ⚠
- p.Ile106Thr Single submitter ⚠
- p.Ile121Thr Single submitter hyperprolinemia type 2 ⚠
- p.Ile160Thr Single submitter hyperprolinemia type 2 ⚠
- p.Ile547del Single submitter
- p.Leu118Pro Single submitter hyperprolinemia type 2 ⚠
- p.Leu30Pro Single submitter ⚠
- p.Leu354Phe Single submitter hyperprolinemia type 2 ⚠
- p.Leu404= Single submitter hyperprolinemia type 2
- p.Lys114Thr Single submitter hyperprolinemia type 2 ⚠
- p.Lys233Arg Single submitter hyperprolinemia type 2 ⚠
- p.Lys292Gln Single submitter hyperprolinemia type 2 ⚠
- p.Lys365Gln Single submitter hyperprolinemia type 2 ⚠
- p.Lys462Arg Single submitter ⚠
- p.Lys464Glu Single submitter ⚠
- p.Phe128Leu Single submitter ⚠
- p.Phe169Leu Single submitter ⚠
- p.Phe172Leu Single submitter hyperprolinemia type 2 ⚠
- p.Pro190Leu Single submitter hyperprolinemia type 2 ⚠
- p.Pro209Ser Single submitter ⚠
- p.Pro256Arg Single submitter hyperprolinemia type 2 ⚠
- p.Pro267His Single submitter hyperprolinemia type 2 ⚠
- p.Pro357Leu Single submitter hyperprolinemia type 2 ⚠
- p.Pro362Gln Single submitter hyperprolinemia type 2 ⚠
- p.Pro459Leu Single submitter intellectual disability ⚠
- p.Pro45Leu Single submitter ⚠
- p.Pro544= Single submitter hyperprolinemia type 2
- p.Pro553Ala Single submitter ⚠
- p.Ser287Thr Single submitter ⚠
- p.Ser359Ala Single submitter ⚠
- p.Ser359Leu Single submitter ⚠
- p.Ser409Phe Single submitter hyperprolinemia type 2 ⚠
- p.Ser412Arg Single submitter hyperprolinemia type 2 ⚠
- p.Ser76Leu Single submitter ⚠
- p.Thr386Pro Single submitter ⚠
- p.Thr473Asn Single submitter ⚠
- p.Thr479Ser Single submitter hyperprolinemia type 2 ⚠
- p.Thr542Ala Single submitter hyperprolinemia type 2 ⚠
- p.Thr75Arg Single submitter ⚠
- p.Tyr80Cys Single submitter hyperprolinemia type 2 ⚠
- p.Val149Glu Single submitter hyperprolinemia type 2 ⚠
- p.Val204Met Single submitter ⚠
- p.Val32_Asn34del Single submitter hyperprolinemia type 2
- p.Val332Met Single submitter hyperprolinemia type 2 ⚠
- p.Val429Leu Single submitter hyperprolinemia type 2 ⚠
- p.Val434Leu Single submitter ⚠
- p.Val434Met Single submitter ⚠
- p.Val490Leu Single submitter ⚠