PGAP1 — 469 ClinVar variants
All ClinVar germline PGAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 183 flagged for review →
23 Pathogenic · 5 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 16 Conflicting · 47 Benign · 8 Benign/Likely benign · 146 Likely benign · 202 Uncertain significance
Full PGAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 183
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 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PGAP1 p.Ala541Thr
Conflicting
Single submitter
Inborn genetic diseases
-
PGAP1 p.Ala703Thr
Conflicting
Single submitter
Inborn genetic diseases
-
PGAP1 p.Arg574Gln
Conflicting
Single submitter
Inborn genetic diseases
-
PGAP1 p.Asn792Ser
Conflicting
Single submitter
Inborn genetic diseases
-
PGAP1 p.Leu564Ser
Conflicting
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Leu823Val
Conflicting
Single submitter
Inborn genetic diseases
-
PGAP1 p.Thr220Met
Conflicting
Single submitter
Inborn genetic diseases
-
PGAP1 p.Val763Ile
Conflicting
Single submitter
intellectual disability, autosomal recessive 42
Predictors lean, ClinVar uncertain 148
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PGAP1 p.Ala714Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Ala864Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Arg231Gln
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Arg803Cys
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Arg803His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Arg814Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Arg814His
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Asn363Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Asp281Glu
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Glu34Lys
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Glu461Gly
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Gly160Asp
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.His261Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Ile520Val
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ile725Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Leu915Phe
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Lys111Glu
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Lys166Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Lys846Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Met175Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Met348Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Met42Val
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Met863Val
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Met922Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Phe19Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Phe451Tyr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
PGAP1 p.Pro733Ser
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ser791Pro
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ser798Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Thr569Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Thr772Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Thr84Met
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Tyr615Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Val15Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Val483Leu
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ala112Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Ala112Ser
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ala12Ser
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ala241Pro
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ala669Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Arg102Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Arg447Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Arg574Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Arg60His
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
PGAP1 p.Asn10Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Asn129Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Asn195His
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Asn492Ser
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Asp631Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
PGAP1 p.Asp796Gly
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Asp808Asn
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Asp808Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Asp850Tyr
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
- PGAP1 p.Cys407Tyr Uncertain significance Single submitter
-
PGAP1 p.Cys573Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Gln409Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Gln466Arg
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
- PGAP1 p.Glu657Lys Uncertain significance Single submitter
-
PGAP1 p.Glu71Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Gly31Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Gly31Ser
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Gly499Glu
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
- PGAP1 p.Gly85Val Uncertain significance Single submitter
-
PGAP1 p.His173Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.His232Arg
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.His594Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.His765Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.His801Tyr
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ile115Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Ile171Val
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ile507Met
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ile507Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Ile606Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Ile644Met
Uncertain significance
Single submitter
Inborn genetic diseases
- PGAP1 p.Ile646Leu Uncertain significance Single submitter
-
PGAP1 p.Ile682Thr
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
- PGAP1 p.Ile737Val Uncertain significance Single submitter
-
PGAP1 p.Ile752Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Leu11Val
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Leu496Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Leu598Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Leu650Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Leu650Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- PGAP1 p.Leu667Ile Uncertain significance Single submitter
-
PGAP1 p.Leu753Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PGAP1 p.Leu813Pro Uncertain significance Single submitter
-
PGAP1 p.Leu838Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Leu8Ile
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Lys142Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Lys166Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Lys190Asn
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Lys481Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PGAP1 p.Lys517Arg Uncertain significance Single submitter
-
PGAP1 p.Lys632Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Lys635Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Lys653Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Lys795Asn
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Lys881Arg
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Lys881Asn
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Met175Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Met17Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Met39Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Met727Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Met815Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Met863Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PGAP1 p.Pro722Leu Uncertain significance Single submitter
-
PGAP1 p.Pro778Thr
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Pro851Ser
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ser139Asn
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ser264Gly
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ser403Asn
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ser449Asn
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ser776Asn
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ser784Cys
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ser791Phe
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ser830Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Thr220Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
PGAP1 p.Thr237Pro
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Thr294Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Thr346Ser
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Thr422Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- PGAP1 p.Thr537Asn Uncertain significance Single submitter
-
PGAP1 p.Thr628Ala
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Thr673Ile
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Thr691Met
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Thr883Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Tyr158His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Tyr362Phe
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Tyr425Cys
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Tyr615Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Tyr615Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Tyr759Cys
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Tyr844Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Val147Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PGAP1 p.Val15Ala Uncertain significance Single submitter
-
PGAP1 p.Val18Ile
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Val249Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Val286Ala
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Val28Ile
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Val354Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Val354Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Val360Ile
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Val453Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Val483Met
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Val590Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Val643Ile
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Val661Leu
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Val872Ile
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
Predictors split 27
The independent predictors disagree with each other — read with care.
-
PGAP1 p.Ala298Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Arg250His
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Asn129Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Asn35Ser
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ile51Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Pro861Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PGAP1 p.Trp357Arg
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Val168Met
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ala108Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Arg245Gln
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Arg250Pro
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Arg297Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Asp668Glu
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Glu113Asp
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Glu33Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.His148Tyr
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Ile233Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Ile303Thr
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Met17Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Phe458Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Phe897Ser
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Pro680Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Ser710Pro
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
PGAP1 p.Tyr575His
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
PGAP1 p.Tyr626Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PGAP1 p.Tyr626His
Conflicting
Single submitter
hereditary spastic paraplegia
- PGAP1 p.Val509Gly Uncertain significance Single submitter
All PGAP1 variants
Pathogenic 23
- p.Arg786fs Multiple submitters Inborn genetic diseases
- p.Gln466Ter Multiple submitters intellectual disability, autosomal recessive 42
- p.Ile465fs Multiple submitters intellectual disability, autosomal recessive 42
- c.1221-3A>G Single submitter intellectual disability, autosomal recessive 42
- c.1501-2A>G Single submitter intellectual disability, autosomal recessive 42
- c.1952+1G>C Single submitter intellectual disability, autosomal recessive 42
- c.861-2A>G Single submitter intellectual disability, autosomal recessive 42
- c.927+1G>A Single submitter intellectual disability, autosomal recessive 42
- p.Asn223fs Single submitter Inborn genetic diseases
- p.Asn7fs Single submitter intellectual disability, autosomal recessive 42
- p.Cys623fs Single submitter intellectual disability, autosomal recessive 42
- p.Cys623Ter Single submitter intellectual disability, autosomal recessive 42
- p.Gln143Ter Single submitter intellectual disability, autosomal recessive 42
- p.Leu259Ter Single submitter intellectual disability, autosomal recessive 42
- p.Lys308fs Single submitter Cerebral visual impairment and intellectual disability
- p.Phe734_Leu735insTer Single submitter Inborn genetic diseases
- p.Pro92del Single submitter Cerebral visual impairment and intellectual disability
- p.Pro92fs Single submitter intellectual disability, autosomal recessive 42
- p.Ser535Ter Single submitter
- p.Tyr524Ter Single submitter intellectual disability, autosomal recessive 42
- p.Val516fs Single submitter intellectual disability, autosomal recessive 42
- c.1090-2A>G No assertion criteria intellectual disability, autosomal recessive 42
- c.1952+1G>T No assertion criteria intellectual disability, autosomal recessive 42
Pathogenic/Likely pathogenic 5
- p.Arg231Ter Multiple submitters
- p.Gln555Ter Multiple submitters PGAP1-related disorders
- p.Leu197del Multiple submitters intellectual disability, autosomal recessive 42
- p.Leu681fs Multiple submitters intellectual disability, autosomal recessive 42
- p.Tyr758Ter Multiple submitters intellectual disability, autosomal recessive 42
Likely pathogenic 22
- c.1089+1G>A Single submitter
- c.1089+5del Single submitter
- c.1351-2A>G Single submitter intellectual disability, autosomal recessive 42
- c.1426+1del Single submitter intellectual disability, autosomal recessive 42
- c.1619+1G>C Single submitter
- c.2286+1G>A Single submitter intellectual disability, autosomal recessive 42
- c.2287-1G>A Single submitter intellectual disability, autosomal recessive 42
- c.2338-2A>C Single submitter intellectual disability, autosomal recessive 42
- c.301+1G>A Single submitter
- p.Asp192fs Single submitter
- p.Glu633Ter Single submitter intellectual disability, autosomal recessive 42
- p.Glu657Ter Single submitter
- p.Leu684Ter Single submitter
- p.Leu735Ter Single submitter intellectual disability, autosomal recessive 42
- p.Lys356Ter Single submitter intellectual disability, autosomal recessive 42
- p.Ser388fs Single submitter
- p.Ser798Ter Single submitter intellectual disability, autosomal recessive 42
- p.Ser97fs Single submitter intellectual disability, autosomal recessive 42
- p.Trp415Ter Single submitter
- p.Tyr385Ter Single submitter
- p.Val441del Single submitter
- p.Lys424= No assertion criteria intellectual disability, autosomal recessive 42
Conflicting classifications of pathogenicity 16
- c.808-7_808-3del Single submitter intellectual disability, autosomal recessive 42
- c.927+4T>C Single submitter Inborn genetic diseases
- p.Ala164= Single submitter intellectual disability, autosomal recessive 42
- p.Ala541Thr Single submitter Inborn genetic diseases ⚠
- p.Ala703Thr Single submitter Inborn genetic diseases ⚠
- p.Arg574Gln Single submitter Inborn genetic diseases ⚠
- p.Asn195= Single submitter intellectual disability, autosomal recessive 42
- p.Asn792Ser Single submitter Inborn genetic diseases ⚠
- p.Asp212= Single submitter intellectual disability, autosomal recessive 42
- p.Asp796= Single submitter intellectual disability, autosomal recessive 42
- p.Glu546= Single submitter intellectual disability, autosomal recessive 42
- p.Leu564Ser Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Leu823Val Single submitter Inborn genetic diseases ⚠
- p.Thr220Met Single submitter Inborn genetic diseases ⚠
- p.Tyr626His Single submitter hereditary spastic paraplegia ⚠
- p.Val763Ile Single submitter intellectual disability, autosomal recessive 42 ⚠
Benign 47
- c.1272+106C>T Multiple submitters
- c.1273-17dup Multiple submitters intellectual disability, autosomal recessive 42
- c.1350+45A>G Multiple submitters
- c.1553-83A>G Multiple submitters
- c.1619+97A>C Multiple submitters
- c.1862-104A>G Multiple submitters
- c.1862-3C>T Multiple submitters intellectual disability, autosomal recessive 42
- c.1952+10A>C Multiple submitters intellectual disability, autosomal recessive 42
- c.1953-182G>A Multiple submitters
- c.1953-303T>C Multiple submitters
- c.2151-46A>G Multiple submitters
- c.2286+64T>C Multiple submitters
- c.2338-82T>C Multiple submitters
- c.2630+15T>C Multiple submitters intellectual disability, autosomal recessive 42
- c.649+17G>A Multiple submitters intellectual disability, autosomal recessive 42
- c.808-157G>T Multiple submitters
- c.861-92A>G Multiple submitters
- c.927+31A>G Multiple submitters
- c.928-179G>A Multiple submitters
- c.*205G>C Multiple submitters
- p.Ala669= Multiple submitters intellectual disability, autosomal recessive 42
- p.Leu178= Multiple submitters hereditary spastic paraplegia
- c.1090-261G>C Single submitter
- c.1173+257G>A Single submitter
- c.1220+19T>C Single submitter intellectual disability, autosomal recessive 42
- c.1221-17del Single submitter intellectual disability, autosomal recessive 42
- c.1273-244A>G Single submitter
- c.1273-8del Single submitter intellectual disability, autosomal recessive 42
- c.1350+84CA[3] Single submitter
- c.1351-16A>G Single submitter intellectual disability, autosomal recessive 42
- c.1426+199T>A Single submitter
- c.1553-15dup Single submitter intellectual disability, autosomal recessive 42
- c.1553-250A>G Single submitter
- c.1953-275dup Single submitter
- c.2286+279dup Single submitter
- c.2287-11A>G Single submitter intellectual disability, autosomal recessive 42
- c.2337+74del Single submitter
- c.2338-19C>T Single submitter intellectual disability, autosomal recessive 42
- c.478-271C>A Single submitter
- c.649+11T>A Single submitter intellectual disability, autosomal recessive 42
- c.807+13del Single submitter intellectual disability, autosomal recessive 42
- c.807+173GAAT[6] Single submitter
- c.860+295C>T Single submitter
- c.861-14_861-11del Single submitter intellectual disability, autosomal recessive 42
- c.861-272T>C Single submitter
- c.927+12dup Single submitter intellectual disability, autosomal recessive 42
- p.Ser616= Single submitter intellectual disability, autosomal recessive 42
Benign/Likely benign 8
- c.1729-12G>A Multiple submitters intellectual disability, autosomal recessive 42
- c.860+12C>A Multiple submitters intellectual disability, autosomal recessive 42
- p.Asn868= Multiple submitters intellectual disability, autosomal recessive 42
- p.Gln585Glu Multiple submitters intellectual disability, autosomal recessive 42
- p.Leu302= Multiple submitters hereditary spastic paraplegia
- p.Leu700= Multiple submitters intellectual disability, autosomal recessive 42
- p.Pro912Ser Multiple submitters intellectual disability, autosomal recessive 42
- p.Thr883Ala Multiple submitters intellectual disability, autosomal recessive 42
Likely benign 146
- c.148-8A>T Multiple submitters intellectual disability, autosomal recessive 42
- c.649+12T>C Multiple submitters intellectual disability, autosomal recessive 42
- c.650-6C>T Multiple submitters intellectual disability, autosomal recessive 42
- p.Gln585= Multiple submitters intellectual disability, autosomal recessive 42
- p.Glu65= Multiple submitters intellectual disability, autosomal recessive 42
- p.Ile104Val Multiple submitters intellectual disability, autosomal recessive 42
- p.Phe498= Multiple submitters intellectual disability, autosomal recessive 42
- c.1034-164G>A Single submitter
- c.1089+16A>G Single submitter intellectual disability, autosomal recessive 42
- c.1090-4G>A Single submitter intellectual disability, autosomal recessive 42
- c.1173+10T>C Single submitter intellectual disability, autosomal recessive 42
- c.1173+10T>G Single submitter
- c.1173+16C>T Single submitter intellectual disability, autosomal recessive 42
- c.1174-133G>A Single submitter
- c.1174-20_1174-16del Single submitter intellectual disability, autosomal recessive 42
- c.1220+10_1220+11del Single submitter intellectual disability, autosomal recessive 42
- c.1220+18A>G Single submitter intellectual disability, autosomal recessive 42
- c.1273-18_1273-16del Single submitter intellectual disability, autosomal recessive 42
- c.1351-13T>A Single submitter intellectual disability, autosomal recessive 42
- c.1351-22_1351-19del Single submitter intellectual disability, autosomal recessive 42
- c.1351-58G>T Single submitter
- c.1426+174A>C Single submitter
- c.1426+17T>A Single submitter intellectual disability, autosomal recessive 42
- c.147+9C>T Single submitter intellectual disability, autosomal recessive 42
- c.148-18A>G Single submitter intellectual disability, autosomal recessive 42
- c.148-9T>A Single submitter intellectual disability, autosomal recessive 42
- c.1500+14A>T Single submitter intellectual disability, autosomal recessive 42
- c.1501-18G>A Single submitter intellectual disability, autosomal recessive 42
- c.1552+133_1552+134insAGAA Single submitter
- c.1553-16T>A Single submitter intellectual disability, autosomal recessive 42
- c.1620-19A>G Single submitter intellectual disability, autosomal recessive 42
- c.1620-28A>G Single submitter
- c.1728+8G>T Single submitter intellectual disability, autosomal recessive 42
- c.1729-4C>T Single submitter intellectual disability, autosomal recessive 42
- c.1862-19A>T Single submitter intellectual disability, autosomal recessive 42
- c.1952+133del Single submitter
- c.1953-13C>A Single submitter intellectual disability, autosomal recessive 42
- c.1953-14T>G Single submitter intellectual disability, autosomal recessive 42
- c.1953-259del Single submitter
- c.2150+9_2150+10insA Single submitter intellectual disability, autosomal recessive 42
- c.2286+11T>C Single submitter intellectual disability, autosomal recessive 42
- c.2286+13A>G Single submitter intellectual disability, autosomal recessive 42
- c.2286+20C>G Single submitter intellectual disability, autosomal recessive 42
- c.2286+293del Single submitter
- c.2286+6T>G Single submitter
- c.2287-12T>C Single submitter intellectual disability, autosomal recessive 42
- c.2287-15A>G Single submitter intellectual disability, autosomal recessive 42
- c.2287-20G>A Single submitter intellectual disability, autosomal recessive 42
- c.2338-13T>C Single submitter intellectual disability, autosomal recessive 42
- c.2338-16C>T Single submitter intellectual disability, autosomal recessive 42
- c.2525+161G>T Single submitter
- c.2526-19T>C Single submitter intellectual disability, autosomal recessive 42
- c.2526-4A>G Single submitter intellectual disability, autosomal recessive 42
- c.2630+191dup Single submitter
- c.2630+20C>A Single submitter intellectual disability, autosomal recessive 42
- c.2631-7T>C Single submitter intellectual disability, autosomal recessive 42
- c.301+10_301+12del Single submitter intellectual disability, autosomal recessive 42
- c.301+14G>A Single submitter intellectual disability, autosomal recessive 42
- c.301+15A>C Single submitter intellectual disability, autosomal recessive 42
- c.301+17G>T Single submitter intellectual disability, autosomal recessive 42
- c.301+18T>C Single submitter intellectual disability, autosomal recessive 42
- c.301+7C>T Single submitter intellectual disability, autosomal recessive 42
- c.302-17A>G Single submitter intellectual disability, autosomal recessive 42
- c.302-20T>G Single submitter intellectual disability, autosomal recessive 42
- c.477+12G>A Single submitter intellectual disability, autosomal recessive 42
- c.477+14A>G Single submitter
- c.478-131T>G Single submitter
- c.478-15G>T Single submitter intellectual disability, autosomal recessive 42
- c.649+275_649+277dup Single submitter
- c.649+301del Single submitter
- c.649+301dup Single submitter
- c.649+8C>G Single submitter intellectual disability, autosomal recessive 42
- c.807+14A>G Single submitter intellectual disability, autosomal recessive 42
- c.860+16T>C Single submitter intellectual disability, autosomal recessive 42
- c.860+99del Single submitter
- c.927+15A>G Single submitter intellectual disability, autosomal recessive 42
- c.927+17T>C Single submitter intellectual disability, autosomal recessive 42
- c.927+280_927+281dup Single submitter
- c.927+9T>A Single submitter intellectual disability, autosomal recessive 42
- c.928-17A>G Single submitter intellectual disability, autosomal recessive 42
- c.928-19G>A Single submitter intellectual disability, autosomal recessive 42
- c.928-20T>G Single submitter intellectual disability, autosomal recessive 42
- c.*203T>C Single submitter
- p.Ala12= Single submitter intellectual disability, autosomal recessive 42
- p.Ala182= Single submitter intellectual disability, autosomal recessive 42
- p.Ala305= Single submitter intellectual disability, autosomal recessive 42
- p.Ala539= Single submitter intellectual disability, autosomal recessive 42
- p.Ala63= Single submitter intellectual disability, autosomal recessive 42
- p.Ala63Thr Single submitter intellectual disability, autosomal recessive 42
- p.Arg297= Single submitter intellectual disability, autosomal recessive 42
- p.Arg447His Single submitter Inborn genetic diseases
- p.Asn336= Single submitter intellectual disability, autosomal recessive 42
- p.Asn394= Single submitter intellectual disability, autosomal recessive 42
- p.Asn807= Single submitter intellectual disability, autosomal recessive 42
- p.Asp454= Single submitter intellectual disability, autosomal recessive 42
- p.Cys623= Single submitter intellectual disability, autosomal recessive 42
- p.Gln292= Single submitter intellectual disability, autosomal recessive 42
- p.Gln767= Single submitter intellectual disability, autosomal recessive 42
- p.Gln885= Single submitter intellectual disability, autosomal recessive 42
- p.Glu461= Single submitter intellectual disability, autosomal recessive 42
- p.Glu557= Single submitter intellectual disability, autosomal recessive 42
- p.Gly410= Single submitter intellectual disability, autosomal recessive 42
- p.His191= Single submitter intellectual disability, autosomal recessive 42
- p.His328= Single submitter intellectual disability, autosomal recessive 42
- p.His332= Single submitter intellectual disability, autosomal recessive 42
- p.Ile538= Single submitter intellectual disability, autosomal recessive 42
- p.Ile799Val Single submitter Inborn genetic diseases
- p.Leu193= Single submitter intellectual disability, autosomal recessive 42
- p.Leu228= Single submitter intellectual disability, autosomal recessive 42
- p.Leu235= Single submitter intellectual disability, autosomal recessive 42
- p.Leu283= Single submitter intellectual disability, autosomal recessive 42
- p.Leu321= Single submitter Inborn genetic diseases
- p.Leu650= Single submitter
- p.Leu672= Single submitter intellectual disability, autosomal recessive 42
- p.Leu713= Single submitter intellectual disability, autosomal recessive 42
- p.Leu828= Single submitter intellectual disability, autosomal recessive 42
- p.Leu890= Single submitter intellectual disability, autosomal recessive 42
- p.Leu914= Single submitter intellectual disability, autosomal recessive 42
- p.Lys142= Single submitter intellectual disability, autosomal recessive 42
- p.Lys317= Single submitter intellectual disability, autosomal recessive 42
- p.Lys36= Single submitter intellectual disability, autosomal recessive 42
- p.Lys653= Single submitter intellectual disability, autosomal recessive 42
- p.Phe13= Single submitter intellectual disability, autosomal recessive 42
- p.Phe43= Single submitter intellectual disability, autosomal recessive 42
- p.Phe908= Single submitter intellectual disability, autosomal recessive 42
- p.Pro210= Single submitter intellectual disability, autosomal recessive 42
- p.Pro274= Single submitter intellectual disability, autosomal recessive 42
- p.Pro62= Single submitter intellectual disability, autosomal recessive 42
- p.Pro680= Single submitter intellectual disability, autosomal recessive 42
- p.Pro733= Single submitter intellectual disability, autosomal recessive 42
- p.Pro854= Single submitter intellectual disability, autosomal recessive 42
- p.Pro906= Single submitter
- p.Ser403= Single submitter intellectual disability, autosomal recessive 42
- p.Ser784= Single submitter intellectual disability, autosomal recessive 42
- p.Thr371= Single submitter intellectual disability, autosomal recessive 42
- p.Thr486= Single submitter intellectual disability, autosomal recessive 42
- p.Thr581= Single submitter intellectual disability, autosomal recessive 42
- p.Thr691= Single submitter intellectual disability, autosomal recessive 42
- p.Thr771= Single submitter intellectual disability, autosomal recessive 42
- p.Tyr903= Single submitter intellectual disability, autosomal recessive 42
- p.Val208= Single submitter intellectual disability, autosomal recessive 42
- p.Val28= Single submitter hereditary spastic paraplegia
- p.Val354= Single submitter intellectual disability, autosomal recessive 42
- p.Val602= Single submitter
- p.Val670Ile Single submitter Inborn genetic diseases
- p.Lys550= No assertion criteria PGAP1-related disorder
Uncertain significance 202
- p.Ala298Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala714Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala864Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg231Gln Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Arg250His Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Arg803Cys Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Arg803His Multiple submitters Inborn genetic diseases ⚠
- p.Arg814Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg814His Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Asn129Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn35Ser Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Asn363Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asp281Glu Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Asp304Val Multiple submitters intellectual disability, autosomal recessive 42
- p.Glu34Lys Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Glu461Gly Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Gly160Asp Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.His261Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile51Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile520Val Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Ile725Asn Multiple submitters Inborn genetic diseases ⚠
- p.Leu915Phe Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Lys111Glu Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Lys166Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys846Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met175Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met348Val Multiple submitters Inborn genetic diseases ⚠
- p.Met42Val Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Met863Val Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Met922Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe19Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe451Tyr Multiple submitters hereditary spastic paraplegia ⚠
- p.Pro733Ser Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Pro861Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser791Pro Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Ser798Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr569Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr772Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr84Met Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Trp357Arg Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Tyr615Asn Multiple submitters Inborn genetic diseases ⚠
- p.Val15Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val168Met Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- p.Val483Leu Multiple submitters intellectual disability, autosomal recessive 42 ⚠
- c.1220+3A>G Single submitter intellectual disability, autosomal recessive 42
- c.1350+4_1350+5insAAA Single submitter intellectual disability, autosomal recessive 42
- c.1351-1G>T Single submitter neurodevelopmental disorder
- c.147+5G>C Single submitter intellectual disability, autosomal recessive 42
- c.1729-16_1729-13del Single submitter intellectual disability, autosomal recessive 42
- c.2151-3C>A Single submitter
- c.2286+5G>T Single submitter
- c.2525+4C>T Single submitter intellectual disability, autosomal recessive 42
- c.2525+5G>A Single submitter intellectual disability, autosomal recessive 42
- c.2526-7A>G Single submitter hereditary spastic paraplegia
- c.301+5G>A Single submitter intellectual disability, autosomal recessive 42
- c.478-3T>C Single submitter intellectual disability, autosomal recessive 42
- c.478-4A>G Single submitter Inborn genetic diseases
- c.807+5T>C Single submitter intellectual disability, autosomal recessive 42
- c.-5G>C Single submitter hereditary spastic paraplegia
- c.*173A>G Single submitter
- p.Ala108Thr Single submitter Inborn genetic diseases ⚠
- p.Ala112Pro Single submitter Inborn genetic diseases ⚠
- p.Ala112Ser Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ala12Ser Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ala241Pro Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ala669Thr Single submitter Inborn genetic diseases ⚠
- p.Arg102Cys Single submitter Inborn genetic diseases ⚠
- p.Arg245Gln Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Arg250Pro Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Arg297Gln Single submitter Inborn genetic diseases ⚠
- p.Arg447Cys Single submitter Inborn genetic diseases ⚠
- p.Arg574Trp Single submitter Inborn genetic diseases ⚠
- p.Arg60His Single submitter hereditary spastic paraplegia ⚠
- p.Asn10Lys Single submitter Inborn genetic diseases ⚠
- p.Asn129Asp Single submitter Inborn genetic diseases ⚠
- p.Asn195His Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Asn363= Single submitter intellectual disability, autosomal recessive 42
- p.Asn492Ser Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Asp631Gly Single submitter hereditary spastic paraplegia ⚠
- p.Asp668Glu Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Asp796Gly Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Asp808Asn Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Asp808Gly Single submitter Inborn genetic diseases ⚠
- p.Asp850Tyr Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Cys407Tyr Single submitter ⚠
- p.Cys573Arg Single submitter Inborn genetic diseases ⚠
- p.Gln409Lys Single submitter Inborn genetic diseases ⚠
- p.Gln466Arg Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Glu113Asp Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Glu33Gly Single submitter Inborn genetic diseases ⚠
- p.Glu657Lys Single submitter ⚠
- p.Glu71Ala Single submitter Inborn genetic diseases ⚠
- p.Gly31Asp Single submitter Inborn genetic diseases ⚠
- p.Gly31Ser Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Gly499Glu Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Gly651= Single submitter intellectual disability, autosomal recessive 42
- p.Gly85Val Single submitter ⚠
- p.His148Tyr Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.His173Arg Single submitter Inborn genetic diseases ⚠
- p.His232Arg Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.His594Tyr Single submitter Inborn genetic diseases ⚠
- p.His765Asp Single submitter Inborn genetic diseases ⚠
- p.His801Tyr Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ile115Thr Single submitter Inborn genetic diseases ⚠
- p.Ile171Val Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ile233Arg Single submitter Inborn genetic diseases ⚠
- p.Ile303Thr Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ile507Met Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ile507Val Single submitter Inborn genetic diseases ⚠
- p.Ile606Val Single submitter Inborn genetic diseases ⚠
- p.Ile644Met Single submitter Inborn genetic diseases ⚠
- p.Ile646Leu Single submitter ⚠
- p.Ile682Thr Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ile737Val Single submitter ⚠
- p.Ile752Met Single submitter Inborn genetic diseases ⚠
- p.Ile895fs Single submitter intellectual disability, autosomal recessive 42
- p.Leu11Val Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Leu291= Single submitter hereditary spastic paraplegia
- p.Leu496Pro Single submitter Inborn genetic diseases ⚠
- p.Leu598Pro Single submitter Inborn genetic diseases ⚠
- p.Leu650Met Single submitter Inborn genetic diseases ⚠
- p.Leu650Phe Single submitter Inborn genetic diseases ⚠
- p.Leu667Ile Single submitter ⚠
- p.Leu753Arg Single submitter Inborn genetic diseases ⚠
- p.Leu813Pro Single submitter ⚠
- p.Leu838Pro Single submitter Inborn genetic diseases ⚠
- p.Leu8Ile Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Lys142Thr Single submitter Inborn genetic diseases ⚠
- p.Lys166Glu Single submitter Inborn genetic diseases ⚠
- p.Lys190Asn Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Lys481Thr Single submitter Inborn genetic diseases ⚠
- p.Lys517Arg Single submitter ⚠
- p.Lys632Glu Single submitter Inborn genetic diseases ⚠
- p.Lys635Arg Single submitter Inborn genetic diseases ⚠
- p.Lys653Thr Single submitter Inborn genetic diseases ⚠
- p.Lys795Asn Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Lys881Arg Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Lys881Asn Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Met175Val Single submitter Inborn genetic diseases ⚠
- p.Met17Ile Single submitter Inborn genetic diseases ⚠
- p.Met17Lys Single submitter Inborn genetic diseases ⚠
- p.Met39Val Single submitter Inborn genetic diseases ⚠
- p.Met727Thr Single submitter Inborn genetic diseases ⚠
- p.Met815Val Single submitter Inborn genetic diseases ⚠
- p.Met863Thr Single submitter Inborn genetic diseases ⚠
- p.Phe458Leu Single submitter Inborn genetic diseases ⚠
- p.Phe897Ser Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Pro665Arg Single submitter
- p.Pro680Arg Single submitter Inborn genetic diseases ⚠
- p.Pro722Leu Single submitter ⚠
- p.Pro778Thr Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Pro851Ser Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ser139Asn Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ser264Gly Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ser403Asn Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ser449Asn Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ser710Pro Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ser776Asn Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ser784Cys Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ser791Phe Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Ser830Gly Single submitter Inborn genetic diseases ⚠
- p.Thr220Arg Single submitter hereditary spastic paraplegia ⚠
- p.Thr237Pro Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Thr294Asn Single submitter Inborn genetic diseases ⚠
- p.Thr346Ser Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Thr371Pro Single submitter Inborn genetic diseases
- p.Thr422Ala Single submitter Inborn genetic diseases ⚠
- p.Thr537Asn Single submitter ⚠
- p.Thr628Ala Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Thr673Ile Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Thr691Met Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Thr871fs Single submitter intellectual disability, autosomal recessive 42
- p.Thr883Ile Single submitter Inborn genetic diseases ⚠
- p.Trp712Cys Single submitter intellectual disability, autosomal recessive 42
- p.Tyr158His Single submitter Inborn genetic diseases ⚠
- p.Tyr362Phe Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Tyr425Cys Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Tyr575His Single submitter hereditary spastic paraplegia ⚠
- p.Tyr615Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr615Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr626Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr759Cys Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Tyr844Asn Single submitter Inborn genetic diseases ⚠
- p.Val147Ile Single submitter Inborn genetic diseases ⚠
- p.Val15Ala Single submitter ⚠
- p.Val18Ile Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Val249Ile Single submitter Inborn genetic diseases ⚠
- p.Val286Ala Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Val28Ile Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Val354Ala Single submitter Inborn genetic diseases ⚠
- p.Val354Leu Single submitter Inborn genetic diseases ⚠
- p.Val360Ile Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Val453Ile Single submitter Inborn genetic diseases ⚠
- p.Val483Met Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Val509Gly Single submitter ⚠
- p.Val590Ile Single submitter Inborn genetic diseases ⚠
- p.Val643Ile Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Val661Leu Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Val6Thr Single submitter intellectual disability, autosomal recessive 42
- p.Val872Ile Single submitter intellectual disability, autosomal recessive 42 ⚠
- c.1553-4A>G No assertion criteria High myopia
- c.2286+5G>A No assertion criteria intellectual disability, autosomal recessive 42