TPM2 — 369 ClinVar variants
All ClinVar germline TPM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
14 Pathogenic · 6 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 17 Conflicting · 22 Benign · 10 Benign/Likely benign · 142 Likely benign · 135 Uncertain significance
Full TPM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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.
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TPM2 p.Arg90His
Conflicting
Single submitter
congenital myopathy 23
-
TPM2 p.Asp2Val
Conflicting
Single submitter
TPM2-related disorder
- TPM2 p.Gln93Arg Conflicting Single submitter
-
TPM2 p.Ser61Pro
Conflicting
Single submitter
arthrogryposis, distal, type 1A
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.
-
TPM2 p.Ala211Val
Uncertain significance
Multiple submitters
arthrogryposis, distal, type 1A
-
TPM2 p.Arg101Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPM2 p.Arg105His
Uncertain significance
Multiple submitters
arthrogryposis, distal, type 1A
-
TPM2 p.Arg133Pro
Uncertain significance
Multiple submitters
arthrogryposis, distal, type 1A
-
TPM2 p.Glu124Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPM2 p.Glu124Lys
Uncertain significance
Multiple submitters
arthrogryposis, distal, type 1A
-
TPM2 p.Ile130Val
Uncertain significance
Multiple submitters
arthrogryposis, distal, type 1A
-
TPM2 p.Ile19Val
Uncertain significance
Multiple submitters
arthrogryposis, distal, type 1A
-
TPM2 p.Lys189Glu
Uncertain significance
Multiple submitters
arthrogryposis, distal, type 1A
-
TPM2 p.Lys248Met
Uncertain significance
Multiple submitters
arthrogryposis, distal, type 1A
-
TPM2 p.Met146Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPM2 p.Ser179Leu
Uncertain significance
Multiple submitters
arthrogryposis, distal, type 1A
-
TPM2 p.Thr252Ile
Uncertain significance
Multiple submitters
arthrogryposis, distal, type 1A
-
TPM2 p.Ala119Val
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Ala155Val
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Ala18Thr
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
- TPM2 p.Ala209Thr Uncertain significance Single submitter
-
TPM2 p.Ala242Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPM2 p.Ala262Ser
Uncertain significance
Single submitter
congenital myopathy 23
-
TPM2 p.Ala45Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TPM2 p.Ala86Val Uncertain significance Single submitter
-
TPM2 p.Arg101Pro
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Arg101Trp
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Arg160Cys
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Arg178Cys
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Arg178Leu
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
- TPM2 p.Arg238Leu Uncertain significance Single submitter
- TPM2 p.Arg90Cys Uncertain significance Single submitter
-
TPM2 p.Arg91His
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
- TPM2 p.Asn17Lys Uncertain significance Single submitter
-
TPM2 p.Asp121Val
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Asp14His
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Asp157Gly
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Asp20His
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Asp212Gly
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Asp254Asn
Uncertain significance
Single submitter
congenital myopathy 23
-
TPM2 p.Asp255Asn
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
- TPM2 p.Asp55Asn Uncertain significance Single submitter
-
TPM2 p.Cys190Tyr
Uncertain significance
Single submitter
congenital myopathy 23
-
TPM2 p.Gln147Pro
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Glu115Asp
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
- TPM2 p.Glu115Val Uncertain significance Single submitter
-
TPM2 p.Glu131Gln
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Glu131Lys
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
- TPM2 p.Glu150Gln Uncertain significance Single submitter
- TPM2 p.Glu175Gly Uncertain significance Single submitter
- TPM2 p.Glu184Gln Uncertain significance Single submitter
- TPM2 p.Glu184Val Uncertain significance Single submitter
- TPM2 p.Glu187Gln Uncertain significance Single submitter
-
TPM2 p.Glu218Ala
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Glu240Gly
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Glu243Lys
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Glu272Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TPM2 p.Gly174Arg Uncertain significance Single submitter
-
TPM2 p.Leu193Val
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Leu227Val
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
- TPM2 p.Leu88Val Uncertain significance Single submitter
-
TPM2 p.Lys48Asn
Uncertain significance
Single submitter
congenital myopathy 23
-
TPM2 p.Met127Val
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Met146Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPM2 p.Met8Thr
Uncertain significance
Single submitter
congenital myopathy 23
-
TPM2 p.Ser215Ala
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
- TPM2 p.Ser271Ile Uncertain significance Single submitter
- TPM2 p.Thr216Ala Uncertain significance Single submitter
-
TPM2 p.Tyr162Phe
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Tyr261His
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
- TPM2 p.Val95Gly Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
-
TPM2 p.Ile253Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPM2 p.Ala277Val
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
- TPM2 p.Ala45Asp Uncertain significance Single submitter
-
TPM2 p.Ala74Thr
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Asp80Glu
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Gln73Arg
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Leu278Phe
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Leu46Ile
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
-
TPM2 p.Lys77Arg
Conflicting
Single submitter
Inborn genetic diseases
-
TPM2 p.Met10Leu
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM2 p.Ser188Cys
Uncertain significance
Single submitter
arthrogryposis, distal, type 1A
- TPM2 p.Val57Gly Uncertain significance Single submitter
All TPM2 variants
Pathogenic 14
- p.Arg133Trp Multiple submitters arthrogryposis
- p.Glu139del Multiple submitters TPM2-related disorder
- p.Lys7del Multiple submitters TPM2-related disorder
- c.374+2T>C Single submitter arthrogryposis, distal, type 2B4
- p.Ala107fs Single submitter
- p.Asn132dup Single submitter arthrogryposis, distal, type 1A
- p.Gln210Ter Single submitter arthrogryposis, distal, type 1A
- p.Glu41Lys Single submitter arthrogryposis, distal, type 1A
- p.Lys70fs Single submitter
- p.Tyr221Ter Single submitter arthrogryposis, distal, type 1A
- p.Arg91Gly No assertion criteria arthrogryposis, distal, type 1A
- p.Asn202Lys No assertion criteria congenital myopathy 23
- p.Gln103Arg No assertion criteria arthrogryposis, distal, type 2B4
- p.Gln210_Ala211insValGluAlaGln No assertion criteria arthrogryposis, distal, type 1A
Pathogenic/Likely pathogenic 6
- p.Ala155Thr Multiple submitters TPM2-related disorder
- p.Ala74fs Multiple submitters arthrogryposis, distal, type 1A
- p.Gln24Ter Multiple submitters arthrogryposis, distal, type 1A
- p.Glu117Lys Multiple submitters Inborn genetic diseases
- p.Glu187Lys Multiple submitters TPM2-related disorder
- p.Tyr261Cys Multiple submitters TPM2-related disorder
Likely pathogenic 23
- p.Gln9Pro Multiple submitters Inborn genetic diseases
- p.Glu145Lys Multiple submitters TPM2-related disorder
- p.Lys128Glu Multiple submitters arthrogryposis, distal, type 1A
- c.240+4_240+5del Single submitter
- c.492+2T>C Single submitter
- c.493-2A>G Single submitter arthrogryposis, distal, type 1A
- c.563+1G>T Single submitter arthrogryposis, distal, type 1A
- c.640-1G>A Single submitter arthrogryposis, distal, type 1A
- c.773-2A>C Single submitter congenital myopathy 23
- p.Arg160Leu Single submitter arthrogryposis, distal, type 1A
- p.Asn279fs Single submitter TPM2-related disorder
- p.Asp121del Single submitter arthrogryposis, distal, type 1A
- p.Asp14Val Single submitter arthrogryposis, distal, type 1A
- p.Asp258Val Single submitter
- p.Asp2Gly Single submitter nemaline myopathy
- p.Gln103Lys Single submitter distal arthrogryposis type 2B1
- p.Gln93His Single submitter
- p.Glu122Lys Single submitter arthrogryposis, distal, type 1A
- p.Glu181Lys Single submitter
- p.Glu97Lys Single submitter
- p.Lys152Arg Single submitter ⚠
- p.Lys49del Single submitter arthrogryposis, distal, type 1A
- p.Tyr60Ter No assertion criteria arthrogryposis, distal, type 1A
Conflicting classifications of pathogenicity 17
- c.241-7C>A Single submitter TPM2-related disorder
- c.374+9G>C Single submitter arthrogryposis, distal, type 1A
- c.564-9C>T Single submitter arthrogryposis, distal, type 1A
- c.773-10_773-9insCG Single submitter arthrogryposis, distal, type 1A
- c.773-3del Single submitter arthrogryposis, distal, type 1A
- c.773-9_773-8insCA Single submitter arthrogryposis, distal, type 1A
- c.-10C>A Single submitter arthrogryposis, distal, type 1A
- c.*25A>C Single submitter arthrogryposis, distal, type 1A
- p.Ala186= Single submitter congenital myopathy 23
- p.Ala242= Single submitter arthrogryposis, distal, type 1A
- p.Ala27= Single submitter arthrogryposis, distal, type 1A
- p.Arg90His Single submitter congenital myopathy 23 ⚠
- p.Asp2Val Single submitter TPM2-related disorder ⚠
- p.Asp80= Single submitter arthrogryposis, distal, type 1A
- p.Gln93Arg Single submitter ⚠
- p.Lys77Arg Single submitter Inborn genetic diseases ⚠
- p.Ser61Pro Single submitter arthrogryposis, distal, type 1A ⚠
Benign 22
- c.115-105A>G Multiple submitters
- c.563+18T>A Multiple submitters arthrogryposis, distal, type 1A
- c.564-19dup Multiple submitters arthrogryposis, distal, type 1A
- c.773-136A>T Multiple submitters
- c.773-3dup Multiple submitters arthrogryposis, distal, type 1A
- c.773-4_773-3insA Multiple submitters arthrogryposis, distal, type 1A
- c.773-95C>G Multiple submitters
- c.-135T>A Multiple submitters congenital myopathy 23
- c.-136T>A Multiple submitters congenital myopathy 23
- c.-137T>A Multiple submitters congenital myopathy 23
- c.-288T>C Multiple submitters
- c.-496G>A Multiple submitters
- c.*7C>T Multiple submitters congenital myopathy 23
- c.*8G>A Multiple submitters arthrogryposis, distal, type 1A
- c.240+208C>T Single submitter
- c.375-12C>A Single submitter arthrogryposis, distal, type 1A
- c.564-19del Single submitter arthrogryposis, distal, type 1A
- c.564-6dup Single submitter arthrogryposis, distal, type 1A
- c.773-235G>C Single submitter
- c.773-719G>A Single submitter
- c.-10C>G Single submitter
- c.-65C>T Single submitter congenital myopathy 23
Benign/Likely benign 10
- c.375-25C>T Multiple submitters
- c.493-11_493-8del Multiple submitters arthrogryposis, distal, type 1A
- c.563+17G>A Multiple submitters arthrogryposis, distal, type 1A
- c.564-18dup Multiple submitters arthrogryposis, distal, type 1A
- c.564-20_564-19dup Multiple submitters arthrogryposis, distal, type 1A
- c.773-4_773-3dup Multiple submitters congenital myopathy 23
- c.773-5_773-3dup Multiple submitters arthrogryposis, distal, type 1A
- c.773-710G>A Multiple submitters
- p.Asp100= Multiple submitters arthrogryposis, distal, type 1A
- p.Ser271= Multiple submitters congenital myopathy 23
Likely benign 142
- c.114+10G>A Multiple submitters arthrogryposis, distal, type 1A
- c.375-13C>T Multiple submitters arthrogryposis, distal, type 1A
- c.564-18_564-17insA Multiple submitters arthrogryposis, distal, type 1A
- c.564-18G>C Multiple submitters arthrogryposis, distal, type 1A
- c.640-34C>T Multiple submitters
- c.772+278T>C Multiple submitters
- c.773-137A>G Multiple submitters
- p.Ala116= Multiple submitters arthrogryposis, distal, type 1A
- p.Ala211= Multiple submitters arthrogryposis, distal, type 1A
- p.Glu75= Multiple submitters arthrogryposis, distal, type 1A
- p.Ile253= Multiple submitters arthrogryposis, distal, type 1A
- p.Leu99= Multiple submitters arthrogryposis, distal, type 1A
- p.Thr282= Multiple submitters arthrogryposis, distal, type 1A
- c.114+9C>T Single submitter arthrogryposis, distal, type 1A
- c.115-13C>T Single submitter arthrogryposis, distal, type 1A
- c.115-14C>A Single submitter arthrogryposis, distal, type 1A
- c.115-16G>A Single submitter arthrogryposis, distal, type 1A
- c.115-5C>T Single submitter arthrogryposis, distal, type 1A
- c.240+11A>T Single submitter arthrogryposis, distal, type 1A
- c.240+15G>T Single submitter arthrogryposis, distal, type 1A
- c.240+161A>G Single submitter
- c.240+17G>A Single submitter arthrogryposis, distal, type 1A
- c.241-14C>T Single submitter arthrogryposis, distal, type 1A
- c.241-5C>T Single submitter arthrogryposis, distal, type 1A
- c.374+14T>C Single submitter arthrogryposis, distal, type 1A
- c.374+15C>T Single submitter arthrogryposis, distal, type 1A
- c.374+16G>A Single submitter arthrogryposis, distal, type 1A
- c.374+16G>C Single submitter arthrogryposis, distal, type 1A
- c.375-11C>T Single submitter arthrogryposis, distal, type 1A
- c.375-15C>T Single submitter arthrogryposis, distal, type 1A
- c.375-37G>A Single submitter
- c.492+37C>T Single submitter
- c.492+9C>T Single submitter arthrogryposis, distal, type 1A
- c.493-10C>T Single submitter arthrogryposis, distal, type 1A
- c.493-20C>G Single submitter arthrogryposis, distal, type 1A
- c.493-22CT[2] Single submitter arthrogryposis, distal, type 1A
- c.493-43G>C Single submitter
- c.493-7C>A Single submitter
- c.493-7C>T Single submitter arthrogryposis, distal, type 1A
- c.563+109dup Single submitter
- c.563+10C>A Single submitter arthrogryposis, distal, type 1A
- c.563+11_563+12insGTA Single submitter arthrogryposis, distal, type 1A
- c.563+12C>T Single submitter arthrogryposis, distal, type 1A
- c.563+13G>A Single submitter arthrogryposis, distal, type 1A
- c.563+13G>C Single submitter arthrogryposis, distal, type 1A
- c.563+13G>T Single submitter arthrogryposis, distal, type 1A
- c.563+14G>T Single submitter arthrogryposis, distal, type 1A
- c.563+7A>T Single submitter
- c.564-10C>T Single submitter arthrogryposis, distal, type 1A
- c.564-13A>C Single submitter arthrogryposis, distal, type 1A
- c.564-18G>A Single submitter arthrogryposis, distal, type 1A
- c.564-19_564-18insT Single submitter arthrogryposis, distal, type 1A
- c.564-19C>G Single submitter arthrogryposis, distal, type 1A
- c.564-19C>T Single submitter arthrogryposis, distal, type 1A
- c.564-20_564-19insT Single submitter arthrogryposis, distal, type 1A
- c.564-20C>T Single submitter arthrogryposis, distal, type 1A
- c.564-7C>T Single submitter arthrogryposis, distal, type 1A
- c.564-9C>A Single submitter arthrogryposis, distal, type 1A
- c.639+10A>G Single submitter arthrogryposis, distal, type 1A
- c.639+16G>A Single submitter arthrogryposis, distal, type 1A
- c.639+33G>T Single submitter
- c.640-15G>A Single submitter arthrogryposis, distal, type 1A
- c.640-17G>C Single submitter arthrogryposis, distal, type 1A
- c.640-18dup Single submitter arthrogryposis, distal, type 1A
- c.640-19G>A Single submitter arthrogryposis, distal, type 1A
- c.640-19GT[6] Single submitter arthrogryposis, distal, type 1A
- c.640-20C>A Single submitter arthrogryposis, distal, type 1A
- c.640-9C>T Single submitter arthrogryposis, distal, type 1A
- c.702+15C>G Single submitter arthrogryposis, distal, type 1A
- c.702+17A>C Single submitter arthrogryposis, distal, type 1A
- c.702+60C>T Single submitter
- c.703-3dup Single submitter arthrogryposis, distal, type 1A
- c.703-5C>T Single submitter arthrogryposis, distal, type 1A
- c.703-9T>C Single submitter arthrogryposis, distal, type 1A
- c.773-10_773-9insG Single submitter arthrogryposis, distal, type 1A
- c.773-11A>G Single submitter arthrogryposis, distal, type 1A
- c.773-11dup Single submitter arthrogryposis, distal, type 1A
- c.773-140C>T Single submitter
- c.773-14T>C Single submitter arthrogryposis, distal, type 1A
- c.773-15C>T Single submitter arthrogryposis, distal, type 1A
- c.773-187C>T Single submitter
- c.773-19C>T Single submitter arthrogryposis, distal, type 1A
- c.773-5_773-4insT Single submitter arthrogryposis, distal, type 1A
- c.773-607C>T Single submitter
- c.773-7_773-6insCG Single submitter arthrogryposis, distal, type 1A
- c.773-727G>A Single submitter
- c.773-9_773-8insA Single submitter arthrogryposis, distal, type 1A
- c.773-9_773-8insG Single submitter arthrogryposis, distal, type 1A
- c.773-9C>A Single submitter arthrogryposis, distal, type 1A
- c.773-9C>G Single submitter arthrogryposis, distal, type 1A
- c.-4A>G Single submitter
- c.-544G>A Single submitter
- p.Ala102= Single submitter arthrogryposis, distal, type 1A
- p.Ala107= Single submitter arthrogryposis, distal, type 1A
- p.Ala119= Single submitter arthrogryposis, distal, type 1A
- p.Ala209= Single submitter arthrogryposis, distal, type 1A
- p.Ala22= Single submitter arthrogryposis, distal, type 1A
- p.Ala25= Single submitter arthrogryposis, distal, type 1A
- p.Ala32= Single submitter arthrogryposis, distal, type 1A
- p.Ala78= Single submitter arthrogryposis, distal, type 1A
- p.Arg133= Single submitter arthrogryposis, distal, type 1A
- p.Arg91= Single submitter arthrogryposis, distal, type 1A
- p.Asp255= Single submitter
- p.Gln144= Single submitter arthrogryposis, distal, type 1A
- p.Glu142= Single submitter arthrogryposis, distal, type 1A
- p.Glu150= Single submitter arthrogryposis, distal, type 1A
- p.Glu196= Single submitter arthrogryposis, distal, type 1A
- p.Glu222= Single submitter arthrogryposis, distal, type 1A
- p.Glu223= Single submitter arthrogryposis, distal, type 1A
- p.Glu224= Single submitter arthrogryposis, distal, type 1A
- p.Glu23= Single submitter arthrogryposis, distal, type 1A
- p.Glu240= Single submitter arthrogryposis, distal, type 1A
- p.Glu243= Single submitter arthrogryposis, distal, type 1A
- p.Glu272= Single submitter arthrogryposis, distal, type 1A
- p.Ile154= Single submitter arthrogryposis, distal, type 1A
- p.Ile225Thr Single submitter arthrogryposis, distal, type 1A
- p.Leu106= Single submitter arthrogryposis, distal, type 1A
- p.Leu169= Single submitter arthrogryposis, distal, type 1A
- p.Leu197= Single submitter arthrogryposis, distal, type 1A
- p.Leu207= Single submitter arthrogryposis, distal, type 1A
- p.Leu249= Single submitter arthrogryposis, distal, type 1A
- p.Leu278= Single submitter arthrogryposis, distal, type 1A
- p.Leu284= Single submitter
- p.Leu94= Single submitter arthrogryposis, distal, type 1A
- p.Lys6= Single submitter arthrogryposis, distal, type 1A
- p.Lys76= Single submitter arthrogryposis, distal, type 1A
- p.Ser179= Single submitter arthrogryposis, distal, type 1A
- p.Ser188Thr Single submitter congenital myopathy 23
- p.Ser206= Single submitter arthrogryposis, distal, type 1A
- p.Ser215= Single submitter arthrogryposis, distal, type 1A
- p.Ser245= Single submitter arthrogryposis, distal, type 1A
- p.Ser63= Single submitter arthrogryposis, distal, type 1A
- p.Ser87= Single submitter arthrogryposis, distal, type 1A
- p.Tyr221= Single submitter arthrogryposis, distal, type 1A
- p.Tyr267= Single submitter arthrogryposis, distal, type 1A
- p.Tyr60= Single submitter arthrogryposis, distal, type 1A
- p.Val165= Single submitter arthrogryposis, distal, type 1A
- p.Val185= Single submitter arthrogryposis, distal, type 1A
- p.Val268= Single submitter
- p.Val64= Single submitter arthrogryposis, distal, type 1A
- c.563+175C>T No assertion criteria TPM2-related disorder
- c.773-9_773-8insCG No assertion criteria TPM2-related disorder
Uncertain significance 135
- c.240+5G>T Multiple submitters arthrogryposis, distal, type 1A
- c.773-5C>G Multiple submitters congenital myopathy 23
- c.-238C>T Multiple submitters arthrogryposis, distal, type 1A
- p.Ala211Val Multiple submitters arthrogryposis, distal, type 1A ⚠
- p.Arg101Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg105His Multiple submitters arthrogryposis, distal, type 1A ⚠
- p.Arg133Pro Multiple submitters arthrogryposis, distal, type 1A ⚠
- p.Arg35Leu Multiple submitters arthrogryposis, distal, type 1A
- p.Glu124Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu124Lys Multiple submitters arthrogryposis, distal, type 1A ⚠
- p.Ile130dup Multiple submitters arthrogryposis, distal, type 1A
- p.Ile130Val Multiple submitters arthrogryposis, distal, type 1A ⚠
- p.Ile19Val Multiple submitters arthrogryposis, distal, type 1A ⚠
- p.Ile253Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu143Gln Multiple submitters arthrogryposis, distal, type 1A
- p.Lys189Glu Multiple submitters arthrogryposis, distal, type 1A ⚠
- p.Lys248Met Multiple submitters arthrogryposis, distal, type 1A ⚠
- p.Met146Val Multiple submitters Inborn genetic diseases ⚠
- p.Ser179Leu Multiple submitters arthrogryposis, distal, type 1A ⚠
- p.Thr252Ile Multiple submitters arthrogryposis, distal, type 1A ⚠
- c.114+6G>A Single submitter
- c.241-5C>G Single submitter
- c.374+3G>A Single submitter arthrogryposis, distal, type 1A
- c.374+9G>A Single submitter arthrogryposis, distal, type 1A
- c.563+15G>T Single submitter arthrogryposis, distal, type 1A
- c.563+165T>C Single submitter
- c.563+7A>G Single submitter arthrogryposis, distal, type 1A
- c.564-19_564-18insA Single submitter arthrogryposis, distal, type 1A
- c.564-7C>A Single submitter
- c.639+6G>C Single submitter arthrogryposis, distal, type 1A
- c.640-4A>G Single submitter
- c.773-2dup Single submitter arthrogryposis, distal, type 1A
- c.773-3_773-2insCA Single submitter
- c.773-3C>A Single submitter congenital myopathy 23
- c.773-4_773-3insG Single submitter
- c.-118G>A Single submitter arthrogryposis, distal, type 1A
- c.-142C>T Single submitter arthrogryposis, distal, type 1A
- c.-158C>A Single submitter arthrogryposis, distal, type 1A
- c.-6G>A Single submitter
- c.-92C>T Single submitter congenital myopathy 23
- c.*13C>T Single submitter
- c.*194C>T Single submitter congenital myopathy 23
- c.*199C>T Single submitter congenital myopathy 23
- c.*22C>A Single submitter congenital myopathy 23
- c.*99A>G Single submitter congenital myopathy 23
- p.Ala116Asn Single submitter arthrogryposis, distal, type 1A
- p.Ala119Val Single submitter arthrogryposis, distal, type 1A ⚠
- p.Ala155Val Single submitter arthrogryposis, distal, type 1A ⚠
- p.Ala18Thr Single submitter arthrogryposis, distal, type 1A ⚠
- p.Ala209Thr Single submitter ⚠
- p.Ala242Asp Single submitter Inborn genetic diseases ⚠
- p.Ala262Ser Single submitter congenital myopathy 23 ⚠
- p.Ala277Thr Single submitter arthrogryposis, distal, type 1A
- p.Ala277Val Single submitter arthrogryposis, distal, type 1A ⚠
- p.Ala45Asp Single submitter ⚠
- p.Ala45Val Single submitter Inborn genetic diseases ⚠
- p.Ala74Thr Single submitter arthrogryposis, distal, type 1A ⚠
- p.Ala83Val Single submitter arthrogryposis, distal, type 1A
- p.Ala86Val Single submitter ⚠
- p.Arg101Pro Single submitter arthrogryposis, distal, type 1A ⚠
- p.Arg101Trp Single submitter arthrogryposis, distal, type 1A ⚠
- p.Arg160Cys Single submitter arthrogryposis, distal, type 1A ⚠
- p.Arg178Cys Single submitter arthrogryposis, distal, type 1A ⚠
- p.Arg178Leu Single submitter arthrogryposis, distal, type 1A ⚠
- p.Arg238Leu Single submitter ⚠
- p.Arg90Cys Single submitter ⚠
- p.Arg91His Single submitter arthrogryposis, distal, type 1A ⚠
- p.Asn17Lys Single submitter ⚠
- p.Asp121Val Single submitter arthrogryposis, distal, type 1A ⚠
- p.Asp14His Single submitter arthrogryposis, distal, type 1A ⚠
- p.Asp157Gly Single submitter arthrogryposis, distal, type 1A ⚠
- p.Asp20His Single submitter arthrogryposis, distal, type 1A ⚠
- p.Asp212Gly Single submitter arthrogryposis, distal, type 1A ⚠
- p.Asp254Asn Single submitter congenital myopathy 23 ⚠
- p.Asp255Asn Single submitter arthrogryposis, distal, type 1A ⚠
- p.Asp55Asn Single submitter ⚠
- p.Asp80Glu Single submitter arthrogryposis, distal, type 1A ⚠
- p.Cys190Tyr Single submitter congenital myopathy 23 ⚠
- p.Gln103_Ala109del Single submitter arthrogryposis, distal, type 1A
- p.Gln111Lys Single submitter Inborn genetic diseases
- p.Gln147Pro Single submitter arthrogryposis, distal, type 1A ⚠
- p.Gln272His Single submitter Inborn genetic diseases
- p.Gln276Glu Single submitter distal arthrogryposis type 2B1
- p.Gln47del Single submitter TPM2-related disorder
- p.Gln73Arg Single submitter arthrogryposis, distal, type 1A ⚠
- p.Gln9_Met10dup Single submitter
- p.Glu115Asp Single submitter arthrogryposis, distal, type 1A ⚠
- p.Glu115del Single submitter arthrogryposis, distal, type 1A
- p.Glu115Val Single submitter ⚠
- p.Glu131Gln Single submitter arthrogryposis, distal, type 1A ⚠
- p.Glu131Lys Single submitter arthrogryposis, distal, type 1A ⚠
- p.Glu150Gln Single submitter ⚠
- p.Glu175Gly Single submitter ⚠
- p.Glu184Gln Single submitter ⚠
- p.Glu184Val Single submitter ⚠
- p.Glu187Gln Single submitter ⚠
- p.Glu194fs Single submitter
- p.Glu218Ala Single submitter arthrogryposis, distal, type 1A ⚠
- p.Glu23fs Single submitter TPM2-related disorder
- p.Glu240Gly Single submitter arthrogryposis, distal, type 1A ⚠
- p.Glu243Lys Single submitter arthrogryposis, distal, type 1A ⚠
- p.Glu272Lys Single submitter Inborn genetic diseases ⚠
- p.Glu66Lys Single submitter arthrogryposis, distal, type 1A
- p.Gly174Arg Single submitter ⚠
- p.His153Gln Single submitter
- p.Ile19_Asp20insLysLysLysMetGlnMetLeuLysLeuAspLysGluAsnAlaIle Single submitter arthrogryposis, distal, type 1A
- p.Leu193Val Single submitter arthrogryposis, distal, type 1A ⚠
- p.Leu227Val Single submitter arthrogryposis, distal, type 1A ⚠
- p.Leu278Phe Single submitter arthrogryposis, distal, type 1A ⚠
- p.Leu46Ile Single submitter arthrogryposis, distal, type 1A ⚠
- p.Leu88Val Single submitter ⚠
- p.Lys12= Single submitter
- p.Lys220fs Single submitter
- p.Lys48Asn Single submitter congenital myopathy 23 ⚠
- p.Lys6_Lys7del Single submitter arthrogryposis, distal, type 1A
- p.Lys76Glu Single submitter Inborn genetic diseases
- p.Met10Leu Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Met127Val Single submitter arthrogryposis, distal, type 1A ⚠
- p.Met141_Gln147del Single submitter Inborn genetic diseases
- p.Met146Ile Single submitter Inborn genetic diseases ⚠
- p.Met8Thr Single submitter congenital myopathy 23 ⚠
- p.Ser188Cys Single submitter arthrogryposis, distal, type 1A ⚠
- p.Ser215Ala Single submitter arthrogryposis, distal, type 1A ⚠
- p.Ser271Ile Single submitter ⚠
- p.Thr216Ala Single submitter ⚠
- p.Thr259Ser Single submitter congenital fiber-type disproportion myopathy
- p.Thr277Ala Single submitter Inborn genetic diseases
- p.Tyr162Phe Single submitter arthrogryposis, distal, type 1A ⚠
- p.Tyr261His Single submitter arthrogryposis, distal, type 1A ⚠
- p.Val185_Ala186insGluGluArgAlaGluVal Single submitter
- p.Val57Gly Single submitter ⚠
- p.Val95Gly Single submitter ⚠
- c.563+131C>T No assertion criteria
- c.563+202_563+203dup No assertion criteria TPM2-related disorder
- p.Glu75Ter No assertion criteria TPM2-related disorder