TUSC3 — 302 ClinVar variants
All ClinVar germline TUSC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →
8 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 10 Conflicting · 40 Benign · 4 Benign/Likely benign · 64 Likely benign · 164 Uncertain significance
Full TUSC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 80
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
TUSC3 p.Ser343Thr
Pathogenic
Single submitter
intellectual disability, autosomal recessive 7
-
TUSC3 p.Ile238Met
Likely pathogenic
No assertion criteria
intellectual disability
Predictors lean, ClinVar uncertain 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TUSC3 p.Ala13Val
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
TUSC3 p.Arg159Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TUSC3 p.Arg15Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TUSC3 p.Arg15Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TUSC3 p.Arg312Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TUSC3 p.Arg9Gly
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
TUSC3 p.Leu217Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TUSC3 p.Pro7Ser
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 7
-
TUSC3 p.Ser8Leu
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
TUSC3 p.Ala113Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ala174Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ala175Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ala179Thr
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
- TUSC3 p.Ala179Val Uncertain significance Single submitter
-
TUSC3 p.Ala232Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ala275Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ala290Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ala6Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ala6Val
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
TUSC3 p.Arg11Gly
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
- TUSC3 p.Arg162Gly Uncertain significance Single submitter
-
TUSC3 p.Arg18Gln
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
-
TUSC3 p.Arg194Thr
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
-
TUSC3 p.Arg62Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Arg63Cys
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
-
TUSC3 p.Arg63Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Arg63Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Arg82Gly
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
- TUSC3 p.Arg97Gln Uncertain significance Single submitter
-
TUSC3 p.Arg9Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Asn144Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Asn263Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Asp138Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Asp346His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Cys102Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Glu280Lys
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
TUSC3 p.Glu54Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Gly23Arg
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
-
TUSC3 p.Gly271Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Gly39Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Gly39Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Gly39Val
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
-
TUSC3 p.His153Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ile190Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ile225Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ile225Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ile238Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ile283Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ile77Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ile87Val
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
TUSC3 p.Leu29Phe
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
-
TUSC3 p.Leu345Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Leu48Ile
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
-
TUSC3 p.Lys161Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
TUSC3 p.Met233Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Met89Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Pro21Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
TUSC3 p.Pro21Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Pro80Ala
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
-
TUSC3 p.Pro80Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Pro80Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TUSC3 p.Pro95Ala Uncertain significance Single submitter
-
TUSC3 p.Thr165Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Thr186Met
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
-
TUSC3 p.Thr229Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- TUSC3 p.Thr303Ser Uncertain significance Single submitter
-
TUSC3 p.Val139Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 11
The independent predictors disagree with each other — read with care.
-
TUSC3 p.Arg74Gln
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
-
TUSC3 p.Asn114Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Asn220Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Asn260Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Asn288Ile
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
-
TUSC3 p.Gln94Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ile111Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Ile332Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Phe224Val
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 7
-
TUSC3 p.Pro156Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUSC3 p.Tyr226Cys
Uncertain significance
Single submitter
Inborn genetic diseases
All TUSC3 variants
Pathogenic 8
- p.Gln141fs Multiple submitters intellectual disability, autosomal recessive 7
- p.Gln177Ter Multiple submitters Inborn genetic diseases
- c.567+1G>C Single submitter intellectual disability, autosomal recessive 7
- p.Arg67Ter Single submitter
- p.Arg82Ter Single submitter
- p.Ser343Thr Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Asn263fs No assertion criteria intellectual disability, autosomal recessive 7
- p.Lys75fs No assertion criteria intellectual disability, autosomal recessive 7
Pathogenic/Likely pathogenic 2
- p.Gln94fs Multiple submitters intellectual disability, autosomal recessive 7
- p.Ser331Ter Multiple submitters TUSC3-related disorder
Likely pathogenic 10
- p.Arg74Ter Multiple submitters intellectual disability, autosomal recessive 7
- c.568-2A>G Single submitter intellectual disability, autosomal recessive 7
- c.938-8_939del Single submitter Inborn genetic diseases
- p.Gln55Ter Single submitter congenital nervous system disorder
- p.Gln96Ter Single submitter intellectual disability, autosomal recessive 7
- p.Trp181Ter Single submitter intellectual disability, autosomal recessive 7
- p.Tyr109Ter Single submitter intellectual disability, autosomal recessive 7
- p.Tyr19fs Single submitter intellectual disability, autosomal recessive 7
- p.Gly41fs No assertion criteria intellectual disability, autosomal recessive 7
- p.Ile238Met No assertion criteria intellectual disability ⚠
Conflicting classifications of pathogenicity 10
- c.1029-5G>C Single submitter Inborn genetic diseases
- c.1029-8T>C Single submitter intellectual disability, autosomal recessive 7
- c.568-15A>G Single submitter intellectual disability, autosomal recessive 7
- c.937+11G>C Single submitter congenital disorder of glycosylation
- c.*1531A>G Single submitter congenital disorder of glycosylation
- c.*1665T>C Single submitter congenital disorder of glycosylation
- c.*2397G>A Single submitter congenital disorder of glycosylation
- p.Gly136= Single submitter congenital disorder of glycosylation
- p.Ile284= Single submitter congenital disorder of glycosylation
- p.Tyr256= Single submitter Inborn genetic diseases
Benign 40
- c.1028+208G>A Multiple submitters
- c.138+74G>A Multiple submitters
- c.309-6T>C Multiple submitters congenital disorder of glycosylation
- c.426+108G>A Multiple submitters
- c.426+196C>G Multiple submitters
- c.568-84T>G Multiple submitters
- c.798+36T>G Multiple submitters
- c.862+19G>A Multiple submitters intellectual disability, autosomal recessive 7
- c.-120C>T Multiple submitters congenital disorder of glycosylation
- c.*1193A>G Multiple submitters congenital disorder of glycosylation
- c.*1288G>A Multiple submitters congenital disorder of glycosylation
- c.*1944C>T Multiple submitters congenital disorder of glycosylation
- c.*2456C>A Multiple submitters congenital disorder of glycosylation
- c.*789C>T Multiple submitters congenital disorder of glycosylation
- c.*854T>C Multiple submitters congenital disorder of glycosylation
- c.*993T>C Multiple submitters congenital disorder of glycosylation
- c.1028+68A>G Single submitter
- c.1029-120_1029-119del Single submitter
- c.1029-211C>T Single submitter
- c.138+168G>A Single submitter
- c.139-214G>C Single submitter
- c.139-261dup Single submitter
- c.139-261T>A Single submitter
- c.309-15C>G Single submitter intellectual disability, autosomal recessive 7
- c.426+171AC[14] Single submitter
- c.426+171AC[15] Single submitter
- c.426+171AC[16] Single submitter
- c.426+171AC[17] Single submitter
- c.427-243C>T Single submitter
- c.708+198_708+199insTAAA Single submitter
- c.709-226T>A Single submitter
- c.798+162AC[5] Single submitter
- c.799-194G>C Single submitter
- c.862+186C>T Single submitter
- c.862+291G>A Single submitter
- c.863-260G>A Single submitter
- c.937+160A>T Single submitter
- c.*2052A>C Single submitter congenital disorder of glycosylation
- c.*47-294C>G Single submitter
- c.*879A>T Single submitter congenital disorder of glycosylation
Benign/Likely benign 4
- c.1028+11T>C Multiple submitters intellectual disability, autosomal recessive 7
- p.Ile65Val Multiple submitters Inborn genetic diseases
- p.Leu29= Multiple submitters Inborn genetic diseases
- p.Ser304= Multiple submitters Inborn genetic diseases
Likely benign 64
- c.1028+8C>G Multiple submitters intellectual disability, autosomal recessive 7
- c.798+55G>A Multiple submitters
- c.937+41C>G Multiple submitters
- c.-108G>A Multiple submitters congenital disorder of glycosylation
- c.-87C>T Multiple submitters congenital disorder of glycosylation
- c.-88T>G Multiple submitters congenital disorder of glycosylation
- c.*2138T>C Multiple submitters congenital disorder of glycosylation
- c.*83A>C Multiple submitters congenital disorder of glycosylation
- p.Ser85= Multiple submitters Inborn genetic diseases
- p.Thr186= Multiple submitters Inborn genetic diseases
- c.1029-4A>G Single submitter
- c.1029-5G>A Single submitter intellectual disability, autosomal recessive 7
- c.138+15C>T Single submitter intellectual disability, autosomal recessive 7
- c.139-4G>A Single submitter intellectual disability, autosomal recessive 7
- c.139-6T>C Single submitter intellectual disability, autosomal recessive 7
- c.309-16C>T Single submitter intellectual disability, autosomal recessive 7
- c.309-4T>C Single submitter
- c.309-8C>G Single submitter intellectual disability, autosomal recessive 7
- c.426+16G>A Single submitter intellectual disability, autosomal recessive 7
- c.426+171AC[12] Single submitter
- c.567+14C>T Single submitter intellectual disability, autosomal recessive 7
- c.568-124C>T Single submitter
- c.708+16G>T Single submitter intellectual disability, autosomal recessive 7
- c.708+9A>G Single submitter
- c.799-18G>C Single submitter intellectual disability, autosomal recessive 7
- c.862+18C>T Single submitter intellectual disability, autosomal recessive 7
- c.863-10A>C Single submitter
- c.938-10C>G Single submitter intellectual disability, autosomal recessive 7
- c.938-12G>C Single submitter intellectual disability, autosomal recessive 7
- c.-273G>A Single submitter congenital disorder of glycosylation
- c.-91G>A Single submitter congenital disorder of glycosylation
- c.*2100C>A Single submitter congenital disorder of glycosylation
- c.*2304C>G Single submitter congenital disorder of glycosylation
- c.*2450A>G Single submitter congenital disorder of glycosylation
- p.Ala113= Single submitter intellectual disability, autosomal recessive 7
- p.Ala121= Single submitter intellectual disability, autosomal recessive 7
- p.Ala13= Single submitter
- p.Ala179= Single submitter Inborn genetic diseases
- p.Ala203= Single submitter intellectual disability, autosomal recessive 7
- p.Ala289= Single submitter intellectual disability, autosomal recessive 7
- p.Arg82= Single submitter intellectual disability, autosomal recessive 7
- p.Asp134= Single submitter
- p.Cys35= Single submitter
- p.Gln110= Single submitter Inborn genetic diseases
- p.Ile225= Single submitter intellectual disability, autosomal recessive 7
- p.Ile283= Single submitter intellectual disability, autosomal recessive 7
- p.Leu168= Single submitter
- p.Leu178= Single submitter
- p.Leu207= Single submitter
- p.Leu214= Single submitter intellectual disability, autosomal recessive 7
- p.Leu31= Single submitter intellectual disability, autosomal recessive 7
- p.Leu316= Single submitter intellectual disability, autosomal recessive 7
- p.Leu32= Single submitter intellectual disability, autosomal recessive 7
- p.Leu56= Single submitter Inborn genetic diseases
- p.Phe154= Single submitter
- p.Pro195= Single submitter
- p.Pro21= Single submitter intellectual disability, autosomal recessive 7
- p.Tyr198= Single submitter Inborn genetic diseases
- p.Tyr216= Single submitter intellectual disability, autosomal recessive 7
- p.Val239= Single submitter
- p.Val308= Single submitter intellectual disability, autosomal recessive 7
- p.Val317= Single submitter Inborn genetic diseases
- p.Val53= Single submitter intellectual disability, autosomal recessive 7
- p.Gly5= No assertion criteria TUSC3-related disorder
Uncertain significance 164
- c.*1197G>A Multiple submitters congenital disorder of glycosylation
- c.*1957A>G Multiple submitters congenital disorder of glycosylation
- c.*46+1G>A Multiple submitters
- p.Ala13Val Multiple submitters congenital disorder of glycosylation ⚠
- p.Arg159Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg15Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg15Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg312Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg9Gly Multiple submitters congenital disorder of glycosylation ⚠
- p.Leu217Met Multiple submitters Inborn genetic diseases ⚠
- p.Pro7Ser Multiple submitters intellectual disability, autosomal recessive 7 ⚠
- p.Ser8Leu Multiple submitters congenital disorder of glycosylation ⚠
- c.139-17del Single submitter
- c.308+3A>G Single submitter intellectual disability, autosomal recessive 7
- c.309-10T>C Single submitter intellectual disability, autosomal recessive 7
- c.309-3C>G Single submitter intellectual disability, autosomal recessive 7
- c.426+13A>T Single submitter congenital disorder of glycosylation
- c.426+15C>T Single submitter congenital disorder of glycosylation
- c.568-4_568-3delinsAT Single submitter Inborn genetic diseases
- c.863-2A>G Single submitter
- c.-111C>A Single submitter congenital disorder of glycosylation
- c.-130C>G Single submitter congenital disorder of glycosylation
- c.-159C>T Single submitter congenital disorder of glycosylation
- c.-167G>A Single submitter congenital disorder of glycosylation
- c.-190C>T Single submitter congenital disorder of glycosylation
- c.-191C>T Single submitter congenital disorder of glycosylation
- c.-206C>T Single submitter congenital disorder of glycosylation
- c.-254C>A Single submitter congenital disorder of glycosylation
- c.-289A>G Single submitter congenital disorder of glycosylation
- c.-303C>G Single submitter congenital disorder of glycosylation
- c.-304G>T Single submitter congenital disorder of glycosylation
- c.-358A>G Single submitter congenital disorder of glycosylation
- c.-46G>C Single submitter congenital disorder of glycosylation
- c.-48C>T Single submitter congenital disorder of glycosylation
- c.-4C>T Single submitter
- c.-51G>A Single submitter congenital disorder of glycosylation
- c.-82A>G Single submitter congenital disorder of glycosylation
- c.*1009C>A Single submitter congenital disorder of glycosylation
- c.*1024T>C Single submitter congenital disorder of glycosylation
- c.*1078C>G Single submitter congenital disorder of glycosylation
- c.*111G>A Single submitter congenital disorder of glycosylation
- c.*1191C>T Single submitter congenital disorder of glycosylation
- c.*128A>G Single submitter congenital disorder of glycosylation
- c.*1313G>A Single submitter congenital disorder of glycosylation
- c.*1371T>G Single submitter congenital disorder of glycosylation
- c.*1391T>C Single submitter congenital disorder of glycosylation
- c.*1581C>T Single submitter congenital disorder of glycosylation
- c.*1607T>C Single submitter congenital disorder of glycosylation
- c.*1723T>G Single submitter congenital disorder of glycosylation
- c.*1737C>T Single submitter congenital disorder of glycosylation
- c.*1861A>G Single submitter congenital disorder of glycosylation
- c.*188C>T Single submitter congenital disorder of glycosylation
- c.*1973T>A Single submitter congenital disorder of glycosylation
- c.*2037G>C Single submitter congenital disorder of glycosylation
- c.*2057T>C Single submitter congenital disorder of glycosylation
- c.*2101A>G Single submitter congenital disorder of glycosylation
- c.*2131G>T Single submitter congenital disorder of glycosylation
- c.*2146A>T Single submitter congenital disorder of glycosylation
- c.*217C>T Single submitter congenital disorder of glycosylation
- c.*2183G>A Single submitter congenital disorder of glycosylation
- c.*222A>G Single submitter congenital disorder of glycosylation
- c.*2241T>C Single submitter congenital disorder of glycosylation
- c.*2277A>G Single submitter congenital disorder of glycosylation
- c.*2283T>C Single submitter congenital disorder of glycosylation
- c.*2316A>G Single submitter congenital disorder of glycosylation
- c.*2363G>T Single submitter congenital disorder of glycosylation
- c.*2371C>T Single submitter congenital disorder of glycosylation
- c.*2393A>G Single submitter congenital disorder of glycosylation
- c.*2407G>A Single submitter congenital disorder of glycosylation
- c.*286C>G Single submitter congenital disorder of glycosylation
- c.*288G>A Single submitter congenital disorder of glycosylation
- c.*341A>G Single submitter congenital disorder of glycosylation
- c.*364G>C Single submitter congenital disorder of glycosylation
- c.*36T>G Single submitter congenital disorder of glycosylation
- c.*499G>A Single submitter congenital disorder of glycosylation
- c.*510C>A Single submitter congenital disorder of glycosylation
- c.*566G>A Single submitter congenital disorder of glycosylation
- c.*589G>A Single submitter congenital disorder of glycosylation
- c.*686A>C Single submitter congenital disorder of glycosylation
- c.*732G>A Single submitter congenital disorder of glycosylation
- c.*763A>C Single submitter congenital disorder of glycosylation
- c.*869A>C Single submitter congenital disorder of glycosylation
- c.*947A>G Single submitter congenital disorder of glycosylation
- c.*98A>G Single submitter congenital disorder of glycosylation
- p.Ala113Val Single submitter Inborn genetic diseases ⚠
- p.Ala174Thr Single submitter Inborn genetic diseases ⚠
- p.Ala175Pro Single submitter Inborn genetic diseases ⚠
- p.Ala179Thr Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Ala179Val Single submitter ⚠
- p.Ala232Ser Single submitter Inborn genetic diseases ⚠
- p.Ala275Ser Single submitter Inborn genetic diseases ⚠
- p.Ala290Ser Single submitter Inborn genetic diseases ⚠
- p.Ala290Thr Single submitter intellectual disability, autosomal recessive 7
- p.Ala6Ser Single submitter Inborn genetic diseases ⚠
- p.Ala6Val Single submitter congenital disorder of glycosylation ⚠
- p.Arg11Gly Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Arg162Gly Single submitter ⚠
- p.Arg18Gln Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Arg194Thr Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Arg62Ile Single submitter Inborn genetic diseases ⚠
- p.Arg63= Single submitter congenital disorder of glycosylation
- p.Arg63Cys Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Arg63Gly Single submitter Inborn genetic diseases ⚠
- p.Arg63Pro Single submitter Inborn genetic diseases ⚠
- p.Arg67Gln Single submitter Inborn genetic diseases
- p.Arg74Gln Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Arg82Gly Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Arg97Gln Single submitter ⚠
- p.Arg9Leu Single submitter Inborn genetic diseases ⚠
- p.Asn114Lys Single submitter Inborn genetic diseases ⚠
- p.Asn144Ser Single submitter Inborn genetic diseases ⚠
- p.Asn220Asp Single submitter Inborn genetic diseases
- p.Asn220Lys Single submitter Inborn genetic diseases ⚠
- p.Asn260Lys Single submitter Inborn genetic diseases ⚠
- p.Asn263Ser Single submitter Inborn genetic diseases ⚠
- p.Asn288Ile Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Asp138Glu Single submitter Inborn genetic diseases ⚠
- p.Asp346His Single submitter Inborn genetic diseases ⚠
- p.Cys102Arg Single submitter Inborn genetic diseases ⚠
- p.Gln94Leu Single submitter Inborn genetic diseases ⚠
- p.Glu280Lys Single submitter congenital disorder of glycosylation ⚠
- p.Glu348Ter Single submitter Inborn genetic diseases
- p.Glu54Asp Single submitter Inborn genetic diseases ⚠
- p.Gly23Arg Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Gly271Arg Single submitter Inborn genetic diseases ⚠
- p.Gly39Ala Single submitter Inborn genetic diseases ⚠
- p.Gly39Arg Single submitter Inborn genetic diseases ⚠
- p.Gly39Val Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.His153Arg Single submitter Inborn genetic diseases ⚠
- p.Ile111Met Single submitter Inborn genetic diseases ⚠
- p.Ile190Val Single submitter Inborn genetic diseases ⚠
- p.Ile225Met Single submitter Inborn genetic diseases ⚠
- p.Ile225Val Single submitter Inborn genetic diseases ⚠
- p.Ile238Val Single submitter Inborn genetic diseases ⚠
- p.Ile283Val Single submitter Inborn genetic diseases ⚠
- p.Ile332Thr Single submitter Inborn genetic diseases ⚠
- p.Ile77Leu Single submitter Inborn genetic diseases ⚠
- p.Ile87Val Single submitter congenital disorder of glycosylation ⚠
- p.Leu29Phe Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Leu345Val Single submitter Inborn genetic diseases ⚠
- p.Leu34del Single submitter intellectual disability, autosomal recessive 7
- p.Leu34dup Single submitter
- p.Leu48Ile Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Lys161Arg Single submitter congenital disorder of glycosylation ⚠
- p.Met1Ile Single submitter congenital disorder of glycosylation
- p.Met233Val Single submitter Inborn genetic diseases ⚠
- p.Met89Thr Single submitter Inborn genetic diseases ⚠
- p.Phe224Val Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Pro156Arg Single submitter Inborn genetic diseases ⚠
- p.Pro21Arg Single submitter congenital disorder of glycosylation ⚠
- p.Pro21Ser Single submitter Inborn genetic diseases ⚠
- p.Pro80Ala Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Pro80Leu Single submitter Inborn genetic diseases ⚠
- p.Pro80Ser Single submitter Inborn genetic diseases ⚠
- p.Pro95Ala Single submitter ⚠
- p.Ser281= Single submitter congenital disorder of glycosylation
- p.Thr165Ala Single submitter Inborn genetic diseases ⚠
- p.Thr186Met Single submitter intellectual disability, autosomal recessive 7 ⚠
- p.Thr229Ala Single submitter Inborn genetic diseases ⚠
- p.Thr303Ser Single submitter ⚠
- p.Tyr226Cys Single submitter Inborn genetic diseases ⚠
- p.Val139Ile Single submitter Inborn genetic diseases ⚠
- p.Val266= Single submitter Inborn genetic diseases
- p.Val323Leu Single submitter Inborn genetic diseases