TMTC3 — 286 ClinVar variants
All ClinVar germline TMTC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
9 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 2 Conflicting · 18 Benign · 3 Benign/Likely benign · 86 Likely benign · 157 Uncertain significance
Full TMTC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll TMTC3 variants
Pathogenic 9
- p.Arg656Ter Multiple submitters lissencephaly 8
- p.Arg488fs Single submitter lissencephaly 8
- p.Arg71His Single submitter
- p.Pro262fs Single submitter
- p.Trp292fs Single submitter
- p.Trp407Ter Single submitter
- p.Arg654fs No assertion criteria lissencephaly 8
- p.Gln873Ter No assertion criteria lissencephaly 8
- p.Met1Ile No assertion criteria lissencephaly 8
Pathogenic/Likely pathogenic 2
- p.Arg319Ter Multiple submitters lissencephaly 8
- p.Lys518fs Multiple submitters lissencephaly 8
Likely pathogenic 9
- c.1432+1G>A Single submitter lissencephaly 8
- p.Arg266fs Single submitter lissencephaly 8
- p.Asp317Gly Single submitter lissencephaly 8
- p.Gln280Ter Single submitter lissencephaly 8
- p.His67Asp Single submitter lissencephaly 8
- p.Leu634Ter Single submitter TMTC3-related disorder
- p.Lys872fs Single submitter
- p.Ser411fs Single submitter lissencephaly 8
- p.Val780fs Single submitter lissencephaly 8
Conflicting classifications of pathogenicity 2
- c.509-6T>C Single submitter Inborn genetic diseases
- p.Val251del Single submitter
Benign 18
- c.1051-40A>T Multiple submitters
- c.1051-5del Multiple submitters
- c.1051-5dup Multiple submitters
- c.1433-17T>G Multiple submitters
- c.190-86A>G Multiple submitters
- c.409-57A>G Multiple submitters
- c.-28-145C>T Multiple submitters
- p.Arg809His Multiple submitters
- p.His133= Multiple submitters
- p.Val181Met Multiple submitters
- p.Val859Ile Multiple submitters
- c.1051-6_1051-5dup Single submitter
- c.1321-102C>T Single submitter
- c.1933+150A>G Single submitter
- c.508+28del Single submitter
- c.509-196A>C Single submitter
- c.797+117A>C Single submitter
- p.Lys112Arg Single submitter
Benign/Likely benign 3
- c.1934-9dup Multiple submitters
- p.Met505Ile Multiple submitters
- p.Tyr159= Multiple submitters
Likely benign 86
- c.1433-3T>C Multiple submitters
- c.190-15G>A Multiple submitters
- p.Ala699= Multiple submitters
- p.Arg622His Multiple submitters Inborn genetic diseases
- p.Asp879= Multiple submitters
- p.Gly851Asp Multiple submitters
- p.Leu904= Multiple submitters
- c.1051-14T>C Single submitter
- c.1051-16_1051-14del Single submitter
- c.1200-13T>G Single submitter
- c.1321-9G>A Single submitter
- c.1433-12T>C Single submitter
- c.1433-8A>T Single submitter
- c.1536+11A>G Single submitter
- c.1536+9C>T Single submitter
- c.1706+14A>G Single submitter
- c.190-16C>T Single submitter
- c.1933+12C>G Single submitter
- c.1933+14A>T Single submitter
- c.1934-5del Single submitter
- c.1934-5T>C Single submitter
- c.408+14_408+17del Single submitter
- c.408+14T>C Single submitter
- c.408+17A>G Single submitter
- c.408+19dup Single submitter
- c.508+14A>T Single submitter
- c.508+19del Single submitter
- c.509-10C>T Single submitter
- c.509-15G>T Single submitter
- c.624+12T>C Single submitter
- c.624+18T>C Single submitter
- c.624+20T>C Single submitter
- c.625-18A>C Single submitter
- c.797+14G>A Single submitter
- c.797+9T>C Single submitter
- p.Ala362= Single submitter
- p.Ala535= Single submitter
- p.Arg65= Single submitter
- p.Asn290= Single submitter
- p.Asn5= Single submitter
- p.Gln190= Single submitter
- p.Gln258= Single submitter
- p.Gln855= Single submitter
- p.Glu375= Single submitter
- p.Glu837= Single submitter
- p.Glu880Lys Single submitter Inborn genetic diseases
- p.Ile132Val Single submitter Inborn genetic diseases
- p.Ile745Val Single submitter lissencephaly 8
- p.Ile827Val Single submitter Inborn genetic diseases
- p.Leu108= Single submitter
- p.Leu113Val Single submitter
- p.Leu147= Single submitter
- p.Leu213= Single submitter
- p.Leu233= Single submitter
- p.Leu378= Single submitter
- p.Leu470= Single submitter
- p.Leu617= Single submitter
- p.Leu708= Single submitter
- p.Leu725= Single submitter
- p.Leu764= Single submitter
- p.Leu798= Single submitter
- p.Lys563= Single submitter
- p.Lys717= Single submitter
- p.Lys720= Single submitter
- p.Lys751= Single submitter
- p.Lys869= Single submitter
- p.Lys888= Single submitter
- p.Pro212= Single submitter
- p.Pro262= Single submitter
- p.Pro275= Single submitter
- p.Pro560= Single submitter
- p.Pro802= Single submitter
- p.Ser120= Single submitter
- p.Ser231= Single submitter
- p.Ser259= Single submitter
- p.Ser820= Single submitter
- p.Ser834= Single submitter
- p.Thr10= Single submitter
- p.Thr886= Single submitter
- p.Tyr340= Single submitter
- p.Tyr490= Single submitter
- p.Tyr806= Single submitter
- p.Val110= Single submitter
- c.1536+3A>G No assertion criteria TMTC3-related disorder
- c.1933+3A>G No assertion criteria TMTC3-related disorder
- p.Glu501= No assertion criteria TMTC3-related disorder
Uncertain significance 157
- p.Ala540Glu Multiple submitters Inborn genetic diseases
- p.Arg553Cys Multiple submitters Inborn genetic diseases
- p.Asp427Tyr Multiple submitters Inborn genetic diseases
- p.Asp561Asn Multiple submitters lissencephaly 8
- p.Cys778Tyr Multiple submitters Inborn genetic diseases
- p.Glu299Gln Multiple submitters Inborn genetic diseases
- p.Glu463Ala Multiple submitters lissencephaly 8
- p.Ile4Val Multiple submitters Inborn genetic diseases
- p.Leu239Pro Multiple submitters Inborn genetic diseases
- p.Lys758Glu Multiple submitters Inborn genetic diseases
- p.Lys891Glu Multiple submitters Inborn genetic diseases
- p.Phe672Leu Multiple submitters Inborn genetic diseases
- p.Pro361Leu Multiple submitters Inborn genetic diseases
- p.Ser104Thr Multiple submitters Inborn genetic diseases
- p.Ser769Asn Multiple submitters Inborn genetic diseases
- p.Thr278Ser Multiple submitters Inborn genetic diseases
- p.Tyr20Cys Multiple submitters lissencephaly 8
- p.Val380Ile Multiple submitters Inborn genetic diseases
- c.1050+5G>A Single submitter
- c.1051-3T>C Single submitter
- c.1321-4del Single submitter TMTC3-related disorder
- c.1432+5G>A Single submitter Inborn genetic diseases
- c.189+5G>C Single submitter
- c.624+5G>A Single submitter
- c.625-9_625-5del Single submitter
- c.*814G>A Single submitter lissencephaly 8
- p.Ala128= Single submitter
- p.Ala128Thr Single submitter Inborn genetic diseases
- p.Ala128Val Single submitter Inborn genetic diseases
- p.Ala272= Single submitter lissencephaly 8
- p.Ala291Val Single submitter Inborn genetic diseases
- p.Ala438Val Single submitter lissencephaly 8
- p.Ala555Pro Single submitter Inborn genetic diseases
- p.Ala555Val Single submitter
- p.Ala694Ser Single submitter Inborn genetic diseases
- p.Ala699Thr Single submitter Inborn genetic diseases
- p.Ala900Asp Single submitter
- p.Arg223Cys Single submitter Inborn genetic diseases
- p.Arg339Gly Single submitter
- p.Arg376Gln Single submitter
- p.Arg539Gln Single submitter Inborn genetic diseases
- p.Arg544Gln Single submitter
- p.Arg553His Single submitter Inborn genetic diseases
- p.Arg569= Single submitter
- p.Arg656Gln Single submitter Inborn genetic diseases
- p.Arg702Gln Single submitter Inborn genetic diseases
- p.Arg730Thr Single submitter Inborn genetic diseases
- p.Arg79Cys Single submitter
- p.Arg909His Single submitter Inborn genetic diseases
- p.Arg909Pro Single submitter Inborn genetic diseases
- p.Asn269Lys Single submitter lissencephaly 8
- p.Asn284Ser Single submitter
- p.Asn442Ser Single submitter Inborn genetic diseases
- p.Asn450Thr Single submitter
- p.Asn536Tyr Single submitter
- p.Asn54His Single submitter Inborn genetic diseases
- p.Asn614Ser Single submitter
- p.Asn673Ser Single submitter Inborn genetic diseases
- p.Asn812Tyr Single submitter Inborn genetic diseases
- p.Asp116His Single submitter Inborn genetic diseases
- p.Asp38His Single submitter
- p.Asp479Asn Single submitter Inborn genetic diseases
- p.Asp549Gly Single submitter
- p.Asp593Tyr Single submitter Inborn genetic diseases
- p.Asp681Asn Single submitter Inborn genetic diseases
- p.Asp700Asn Single submitter
- p.Asp816Gly Single submitter
- p.Asp863Ala Single submitter
- p.Cys111Tyr Single submitter lissencephaly 8
- p.Cys187Arg Single submitter Inborn genetic diseases
- p.Cys199Tyr Single submitter
- p.Gln207Arg Single submitter
- p.Gln476Arg Single submitter
- p.Gln873His Single submitter Inborn genetic diseases
- p.Glu375Lys Single submitter
- p.Glu429Lys Single submitter Inborn genetic diseases
- p.Glu501Lys Single submitter Inborn genetic diseases
- p.Glu571Lys Single submitter
- p.Glu727Asp Single submitter
- p.Glu727del Single submitter lissencephaly 8
- p.Glu761Lys Single submitter Inborn genetic diseases
- p.Glu761Val Single submitter
- p.Glu784Asp Single submitter Inborn genetic diseases
- p.Glu848Lys Single submitter Inborn genetic diseases
- p.Glu905Gln Single submitter Inborn genetic diseases
- p.Gly208Arg Single submitter Inborn genetic diseases
- p.Gly307Glu Single submitter Inborn genetic diseases
- p.Gly453Cys Single submitter lissencephaly 8
- p.Gly58Val Single submitter
- p.Gly645Asp Single submitter
- p.Gly738Asp Single submitter Inborn genetic diseases
- p.Gly878Glu Single submitter Inborn genetic diseases
- p.His391Arg Single submitter
- p.His735Asn Single submitter
- p.Ile106Val Single submitter
- p.Ile150Val Single submitter
- p.Ile170Met Single submitter
- p.Ile240Thr Single submitter Inborn genetic diseases
- p.Ile312Met Single submitter Inborn genetic diseases
- p.Ile396Val Single submitter
- p.Ile608Thr Single submitter Inborn genetic diseases
- p.Ile661Val Single submitter Inborn genetic diseases
- p.Ile695Val Single submitter
- p.Ile724Val Single submitter
- p.Ile745fs Single submitter
- p.Ile910Asn Single submitter Inborn genetic diseases
- p.Leu108Phe Single submitter
- p.Leu147Phe Single submitter Inborn genetic diseases
- p.Leu211Val Single submitter Inborn genetic diseases
- p.Leu248Phe Single submitter Inborn genetic diseases
- p.Leu249Val Single submitter Inborn genetic diseases
- p.Leu580His Single submitter Inborn genetic diseases
- p.Leu580Phe Single submitter Inborn genetic diseases
- p.Leu599Ile Single submitter
- p.Leu599Phe Single submitter Inborn genetic diseases
- p.Leu739Arg Single submitter Inborn genetic diseases
- p.Leu76Phe Single submitter Inborn genetic diseases
- p.Leu795Arg Single submitter Inborn genetic diseases
- p.Lys118Arg Single submitter
- p.Lys467Asn Single submitter Inborn genetic diseases
- p.Lys682Glu Single submitter Inborn genetic diseases
- p.Lys696Glu Single submitter Inborn genetic diseases
- p.Lys839Arg Single submitter Inborn genetic diseases
- p.Lys896fs Single submitter
- p.Met232Val Single submitter Inborn genetic diseases
- p.Met332Ile Single submitter Inborn genetic diseases
- p.Met412Val Single submitter
- p.Met676Val Single submitter Inborn genetic diseases
- p.Met679Val Single submitter Inborn genetic diseases
- p.Phe244Val Single submitter Inborn genetic diseases
- p.Phe28Val Single submitter Inborn genetic diseases
- p.Phe30Ser Single submitter
- p.Phe329Leu Single submitter Inborn genetic diseases
- p.Pro368Gln Single submitter Inborn genetic diseases
- p.Pro511Thr Single submitter Inborn genetic diseases
- p.Pro613Arg Single submitter Inborn genetic diseases
- p.Pro628Thr Single submitter Inborn genetic diseases
- p.Pro651Arg Single submitter Inborn genetic diseases
- p.Ser104Cys Single submitter Inborn genetic diseases
- p.Ser149Cys Single submitter
- p.Ser337Ile Single submitter Inborn genetic diseases
- p.Ser363Leu Single submitter Inborn genetic diseases
- p.Ser91Leu Single submitter Inborn genetic diseases
- p.Thr10Ile Single submitter Inborn genetic diseases
- p.Thr50Asn Single submitter Inborn genetic diseases
- p.Thr59Pro Single submitter Inborn genetic diseases
- p.Thr843Ala Single submitter Inborn genetic diseases
- p.Thr856Ser Single submitter
- p.Thr882fs Single submitter
- p.Thr887Ile Single submitter Inborn genetic diseases
- p.Trp600Cys Single submitter Inborn genetic diseases
- p.Tyr20Phe Single submitter Inborn genetic diseases
- p.Tyr732Phe Single submitter Inborn genetic diseases
- p.Val250Ala Single submitter
- p.Val413Met Single submitter
- p.Val475Leu Single submitter
- p.Val779Ile Single submitter