SLC35A3 — 335 ClinVar variants
All ClinVar germline SLC35A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
21 Pathogenic · 11 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 3 Conflicting · 33 Benign · 160 Likely benign · 91 Uncertain significance
Full SLC35A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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SLC35A3 p.Ser296Gly
Pathogenic/Likely pathogenic
Multiple submitters
autism spectrum disorder - epilepsy - arthrogryposis syndrome
Predictors lean, ClinVar uncertain 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SLC35A3 p.Arg25Cys
Uncertain significance
Multiple submitters
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Arg25His
Uncertain significance
Multiple submitters
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Asp159Glu
Uncertain significance
Multiple submitters
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Gly137Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC35A3 p.Ile246Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC35A3 p.Pro157Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC35A3 p.Ala110Gly
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Ala110Thr
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Ala125Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Ala260Pro
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Arg242Gln
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Arg25Leu
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Asn234Asp
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Asn321Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Asn4Thr
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Asn70Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Asp266Tyr
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Cys183Tyr
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Cys64Tyr
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Gln161Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Glu194Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Glu83Ala
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Glu83Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Gly320Glu
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Ile209Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Ile246Met
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Ile89Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Ile93Thr
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Leu250Phe
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Leu276Ser
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Phe214Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Pro35Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Pro90Leu
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Ser185Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Ser296Asn
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Thr116Met
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Thr17Ala
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Tyr26Asn
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Val145Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Val151Asp
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Val154Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Val191Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Ala252Val
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Arg242Leu
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Asp227Ala
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Glu166Lys
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Gly254Arg
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Ile217Leu
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Ile93Phe
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Leu147Val
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Leu30Ser
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Lys165Thr
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Pro316Ser
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Ser40Tyr
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
Predictors split 17
The independent predictors disagree with each other — read with care.
-
SLC35A3 p.Lys135Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC35A3 p.Pro35Thr
Uncertain significance
Multiple submitters
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Arg36His
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Phe184Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Pro157Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Pro316Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Pro35Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Thr200Arg
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Trp156Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Tyr59His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC35A3 p.Val14Ile
Uncertain significance
Single submitter
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Gly137Cys
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Phe236Leu
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Pro81Ser
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Tyr224Cys
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Val257Leu
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
-
SLC35A3 p.Val44Ile
Uncertain significance
No assertion criteria
autism spectrum disorder - epilepsy - arthrogryposis syndrome
All SLC35A3 variants
Pathogenic 21
- p.Gln172Ter Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala252fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala68_Leu69insTer Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Asn234fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Asn79fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gln114Ter Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gln16fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gln251Ter Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Glu199Ter Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gly255fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ile262fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu197fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu96fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ser203fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ser281Ter Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Trp141Ter Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Trp205fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Trp205Ter Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Trp245Ter Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val257fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.-18-1G>T No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome
Pathogenic/Likely pathogenic 11
- p.Arg242Ter Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Arg71Ter Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Asp227fs Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gln238fs Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gly271Ter Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ile196fs Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu13fs Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Lys198fs Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Phe173_Val174insTer Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ser296Gly Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Tyr7Ter Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
Likely pathogenic 16
- c.342+1G>A Multiple submitters SLC35A3-related disorder
- c.188-1G>T Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.634+1G>T Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.635-1G>A Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.635-2A>T Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.887+1G>A Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gly219Ter Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu136Ter Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu300fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Lys6fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Met177fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Phe298fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Thr200fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Tyr117Ter Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val293fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.634+2dup No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome
Conflicting classifications of pathogenicity 3
- p.Arg67= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gln161Ter Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu276fs Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
Benign 33
- c.187+79A>G Multiple submitters
- c.343-119A>G Multiple submitters
- c.466-106T>G Multiple submitters
- c.754-229C>A Multiple submitters
- c.754-25A>G Multiple submitters
- c.-18-72C>T Multiple submitters
- c.-19+415A>G Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.*145C>T Multiple submitters
- p.Leu119= Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Met177Ile Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val8Ile Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.187+168_187+172dup Single submitter
- c.188-179C>T Single submitter
- c.188-189T>C Single submitter
- c.466-259G>A Single submitter
- c.634+151TTAT[10] Single submitter
- c.634+151TTAT[11] Single submitter
- c.634+151TTAT[12] Single submitter
- c.634+151TTAT[6] Single submitter
- c.634+151TTAT[9] Single submitter
- c.634+217C>T Single submitter
- c.635-125del Single submitter
- c.635-125dup Single submitter
- c.635-126_635-125del Single submitter
- c.635-126_635-125dup Single submitter
- c.635-145C>A Single submitter
- c.635-150C>T Single submitter
- c.635-3dup Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.753+186C>A Single submitter
- c.887+25dup Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.888-239_888-238del Single submitter
- c.-19+697T>C Single submitter
- p.Phe2= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
Likely benign 160
- c.754-10A>T Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.*12C>T Multiple submitters
- p.Gly255= Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.187+10T>C Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.187+13G>A Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.187+18_187+19dup Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.187+20G>T Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.187+9C>A Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.188-10T>C Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.188-12_188-11del Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.188-14A>G Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.188-14A>T Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.342+12A>G Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.342+14A>G Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.342+18_342+19del Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.342+18C>A Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.342+22_342+25del Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.343-14G>C Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.343-15T>C Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.343-18T>C Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.343-9C>A Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.465+18G>A Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.465+7A>C Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.466-12C>T Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.466-18A>G Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.466-5T>C Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.466-9_466-7del Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.634+11_634+12dup Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.634+12A>G Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.634+151TTAT[14] Single submitter
- c.634+15T>G Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.635-14_635-13del Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.635-5_635-3del Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.753+12A>G Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.753+15G>A Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.753+16T>C Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.753+7C>T Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.753+8A>G Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.753+8A>T Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.753+9T>G Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.754-18del Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.754-321C>T Single submitter
- c.754-338A>G Single submitter
- c.887+13_887+17del Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.887+17T>G Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.887+7del Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.887+8G>A Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.888-10T>A Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.888-118C>T Single submitter
- c.888-13del Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.888-6A>G Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.888-8T>A Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.-18-299G>A Single submitter
- c.-19+551T>A Single submitter
- c.-3A>G Single submitter
- p.Ala110= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala125= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala178= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala182= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala252= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala260= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala302= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala319= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala325= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala42= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala88= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Arg242= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Asn208= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Asn234= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Asn4= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Asn70= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Asp109= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Asp266= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Asp315= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Asp61= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Cys183= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gln161= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gln172= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gln202= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Glu199= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Glu229= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Glu32= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gly137= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gly175= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gly187= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gly190= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gly215= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gly254= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ile284= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ile77= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ile89= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu10= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu100= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu101= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu105= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu126= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu136= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu144= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu147= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu176= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu180= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu253= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu269= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu300= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu311= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu38= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu49= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu56= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu66= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu78= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Lys195= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Lys198= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Lys317= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Lys50= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Lys63= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Phe193= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Phe298= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Pro157= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Pro322= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Pro90= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ser128= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ser143= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ser158= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ser171= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ser27= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ser277= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ser281= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ser40= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Thr116= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Thr18= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Thr181= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Thr200= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Thr23= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Thr244= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Thr274= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Thr282= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Thr295= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Thr309= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Thr41= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Thr84= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Thr95= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Tyr113= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Tyr224= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Tyr264= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Tyr286= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Tyr314= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Tyr59= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Tyr7= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Tyr94= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val138= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val14= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val154= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val204= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val21= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val223= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val231= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val247= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val257= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val297= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val58= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
Uncertain significance 91
- p.Arg25Cys Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Arg25His Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Asp159Glu Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Gly137Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile246Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys135Asn Multiple submitters Inborn genetic diseases ⚠
- p.Pro157Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro35Thr Multiple submitters autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Ser65Ile Multiple submitters Inborn genetic diseases
- c.187+5G>A Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.342+4C>T Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.635-3del Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.753+6G>A Single submitter Inborn genetic diseases
- c.754-1G>T Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala110Gly Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Ala110Thr Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Ala125Thr Single submitter Inborn genetic diseases ⚠
- p.Ala260Pro Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Ala265Ser Single submitter Inborn genetic diseases
- p.Arg242Gln Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Arg25Leu Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Arg36His Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Asn234Asp Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Asn321Ser Single submitter Inborn genetic diseases ⚠
- p.Asn4Thr Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Asn70Ile Single submitter Inborn genetic diseases ⚠
- p.Asp266Tyr Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Cys183Tyr Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Cys64Tyr Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Gln161Arg Single submitter Inborn genetic diseases ⚠
- p.Gln238Leu Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Gln251= Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Glu194Gln Single submitter Inborn genetic diseases ⚠
- p.Glu33del Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Glu83Ala Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Glu83Lys Single submitter Inborn genetic diseases ⚠
- p.Gly320Glu Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Ile209Thr Single submitter Inborn genetic diseases ⚠
- p.Ile246Met Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Ile89Val Single submitter Inborn genetic diseases ⚠
- p.Ile93Thr Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Leu250Phe Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Leu276Ser Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Phe15Ser Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Phe184Ser Single submitter Inborn genetic diseases ⚠
- p.Phe214Leu Single submitter Inborn genetic diseases ⚠
- p.Pro157Ser Single submitter Inborn genetic diseases ⚠
- p.Pro316Thr Single submitter Inborn genetic diseases ⚠
- p.Pro35Arg Single submitter Inborn genetic diseases ⚠
- p.Pro35Leu Single submitter Inborn genetic diseases ⚠
- p.Pro90Leu Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Ser185Pro Single submitter Inborn genetic diseases ⚠
- p.Ser203Ala Single submitter Inborn genetic diseases
- p.Ser296Asn Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Thr116Met Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Thr17Ala Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Thr200Arg Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Trp156Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr26Asn Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Tyr59His Single submitter Inborn genetic diseases ⚠
- p.Val145Ile Single submitter Inborn genetic diseases ⚠
- p.Val14Ile Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Val151Asp Single submitter autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Val154Leu Single submitter Inborn genetic diseases ⚠
- p.Val191Ile Single submitter Inborn genetic diseases ⚠
- c.634+9T>G No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.754-3C>T No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome
- c.*1T>G No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala189_Phe193del No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Ala252Val No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Arg242Leu No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Asp227Ala No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Glu166Lys No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Gly137Cys No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Gly254Arg No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Ile217Leu No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Ile93Phe No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Leu147Val No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Leu30Ser No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Leu5= No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Leu69= No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Lys165Thr No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Phe236Leu No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Pro316Ser No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Pro81Ser No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Ser40Tyr No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Trp245Cys No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Tyr224Cys No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Val129= No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome
- p.Val257Leu No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠
- p.Val44Ile No assertion criteria autism spectrum disorder - epilepsy - arthrogryposis syndrome ⚠