TUFM — 217 ClinVar variants
All ClinVar germline TUFM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
3 Pathogenic · 3 Likely pathogenic · 18 Conflicting · 9 Benign · 5 Benign/Likely benign · 76 Likely benign · 103 Uncertain significance
Full TUFM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll TUFM variants
Pathogenic 3
- p.Leu242fs Single submitter
- p.Leu147His No assertion criteria combined oxidative phosphorylation defect type 4
- p.Thr53_Tyr54insTer No assertion criteria combined oxidative phosphorylation defect type 4
Likely pathogenic 3
- p.Arg107Pro Single submitter
- p.Arg330Pro Single submitter combined oxidative phosphorylation defect type 4
- p.Glu399Gly Single submitter
Conflicting classifications of pathogenicity 18
- c.1195-3T>C Single submitter
- c.519+15G>A Single submitter combined oxidative phosphorylation defect type 4
- c.684+8C>T Single submitter combined oxidative phosphorylation defect type 4
- c.922+8A>G Single submitter combined oxidative phosphorylation defect type 4
- c.*561A>T Single submitter combined oxidative phosphorylation defect type 4
- p.Ala186= Single submitter combined oxidative phosphorylation defect type 4
- p.Ala254Thr Single submitter combined oxidative phosphorylation defect type 4
- p.Asn431Ser Single submitter Inborn genetic diseases
- p.Gln190Ter Single submitter
- p.Gly143Ser Single submitter combined oxidative phosphorylation defect type 4
- p.His298= Single submitter combined oxidative phosphorylation defect type 4
- p.Leu325= Single submitter combined oxidative phosphorylation defect type 4
- p.Leu39Phe Single submitter Inborn genetic diseases
- p.Leu76fs Single submitter combined oxidative phosphorylation defect type 4
- p.Pro253= Single submitter combined oxidative phosphorylation defect type 4
- p.Thr207Pro Single submitter Inborn genetic diseases
- p.Val271Ile Single submitter Inborn genetic diseases
- p.Val374Met Single submitter combined oxidative phosphorylation defect type 4
Benign 9
- c.1194+288T>C Multiple submitters
- c.248-18G>A Multiple submitters combined oxidative phosphorylation defect type 4
- c.817+13T>C Multiple submitters combined oxidative phosphorylation defect type 4
- c.922+16C>T Multiple submitters
- c.922+29C>G Multiple submitters combined oxidative phosphorylation defect type 4
- c.-55T>C Multiple submitters combined oxidative phosphorylation defect type 4
- c.*24C>T Multiple submitters combined oxidative phosphorylation defect type 4
- c.*300T>G Multiple submitters combined oxidative phosphorylation defect type 4
- p.Ile66= Multiple submitters combined oxidative phosphorylation defect type 4
Benign/Likely benign 5
- c.520-13C>G Multiple submitters combined oxidative phosphorylation defect type 4
- c.520-8A>T Multiple submitters combined oxidative phosphorylation defect type 4
- c.684+6C>T Multiple submitters combined oxidative phosphorylation defect type 4
- p.Ala321= Multiple submitters
- p.Thr24= Multiple submitters
Likely benign 76
- c.415-6C>G Multiple submitters
- c.53-11G>C Multiple submitters
- c.684+9G>A Multiple submitters
- c.685-32G>T Multiple submitters
- p.Ala327= Multiple submitters
- p.Arg303= Multiple submitters
- p.Arg414= Multiple submitters
- p.Asp291= Multiple submitters
- p.His178= Multiple submitters
- p.Leu328= Multiple submitters
- c.1074+18C>T Single submitter
- c.1074+19G>A Single submitter
- c.1074+9T>G Single submitter
- c.1194+17G>A Single submitter
- c.1194+20T>G Single submitter
- c.1195-10C>G Single submitter
- c.1195-26G>A Single submitter
- c.247+17C>T Single submitter
- c.248-7C>T Single submitter
- c.248-9C>T Single submitter
- c.414+18A>G Single submitter
- c.415-15C>T Single submitter
- c.415-20C>T Single submitter
- c.415-9C>T Single submitter
- c.519+32G>A Single submitter
- c.52+13G>A Single submitter
- c.52+13G>C Single submitter
- c.520-4A>C Single submitter
- c.53-16G>A Single submitter
- c.53-8C>T Single submitter
- c.685-5A>G Single submitter
- c.817+16G>C Single submitter
- c.817+19C>G Single submitter
- c.818-17G>A Single submitter
- c.818-3del Single submitter
- c.818-5C>T Single submitter
- c.922+12C>T Single submitter
- c.922+54G>A Single submitter
- c.922+7G>A Single submitter
- c.923-15C>T Single submitter
- c.923-21_923-19del Single submitter
- p.Ala126= Single submitter
- p.Ala156= Single submitter
- p.Ala171= Single submitter
- p.Ala267= Single submitter
- p.Ala36= Single submitter
- p.Arg338= Single submitter
- p.Arg428= Single submitter
- p.Asn157= Single submitter
- p.Asn410= Single submitter
- p.Asp187= Single submitter
- p.Asp387= Single submitter
- p.Glu405= Single submitter
- p.Gly404= Single submitter
- p.His133= Single submitter
- p.Ile361= Single submitter
- p.Ile418= Single submitter
- p.Leu169= Single submitter
- p.Leu200= Single submitter
- p.Leu236= Single submitter
- p.Leu27= Single submitter
- p.Leu332= Single submitter
- p.Leu413= Single submitter
- p.Lys371= Single submitter
- p.Pro131= Single submitter
- p.Pro403= Single submitter
- p.Thr128= Single submitter
- p.Thr276= Single submitter
- p.Thr304= Single submitter
- p.Thr436= Single submitter
- p.Tyr118= Single submitter
- p.Tyr125= Single submitter
- p.Tyr95= Single submitter
- p.Val180= Single submitter
- p.Val374= Single submitter
- c.923-7G>A No assertion criteria TUFM-related disorder
Uncertain significance 103
- p.Ala113Val Multiple submitters
- p.Ala38Val Multiple submitters
- p.Arg424His Multiple submitters
- p.Arg56Gly Multiple submitters combined oxidative phosphorylation defect type 4
- p.Asn157Ser Multiple submitters combined oxidative phosphorylation defect type 4
- p.Asp244Glu Multiple submitters
- p.Cys225Tyr Multiple submitters Inborn genetic diseases
- p.Glu208Lys Multiple submitters Inborn genetic diseases
- p.Gly22Ser Multiple submitters
- p.Gly455Asp Multiple submitters
- p.Leu26Pro Multiple submitters Inborn genetic diseases
- p.Lys314Arg Multiple submitters Inborn genetic diseases
- p.Lys450Glu Multiple submitters combined oxidative phosphorylation defect type 4
- p.Met1Val Multiple submitters combined oxidative phosphorylation defect type 4
- p.Ser192Pro Multiple submitters Inborn genetic diseases
- p.Thr446Asn Multiple submitters Inborn genetic diseases
- c.248-13T>G Single submitter combined oxidative phosphorylation defect type 4
- c.414+6G>C Single submitter
- c.519+14G>C Single submitter combined oxidative phosphorylation defect type 4
- c.520-3C>T Single submitter
- c.53-1G>C Single submitter mitochondrial disease
- c.923-9C>A Single submitter combined oxidative phosphorylation defect type 4
- c.-37C>T Single submitter combined oxidative phosphorylation defect type 4
- c.-61C>T Single submitter combined oxidative phosphorylation defect type 4
- c.*110A>G Single submitter combined oxidative phosphorylation defect type 4
- c.*149G>C Single submitter combined oxidative phosphorylation defect type 4
- c.*229G>A Single submitter combined oxidative phosphorylation defect type 4
- c.*270C>T Single submitter combined oxidative phosphorylation defect type 4
- c.*349G>A Single submitter combined oxidative phosphorylation defect type 4
- c.*370T>G Single submitter combined oxidative phosphorylation defect type 4
- c.*37G>A Single submitter combined oxidative phosphorylation defect type 4
- c.*398G>A Single submitter combined oxidative phosphorylation defect type 4
- c.*433T>C Single submitter combined oxidative phosphorylation defect type 4
- c.*445G>A Single submitter combined oxidative phosphorylation defect type 4
- c.*517G>C Single submitter combined oxidative phosphorylation defect type 4
- c.*60T>G Single submitter combined oxidative phosphorylation defect type 4
- p.195VEL[1] Single submitter
- p.Ala126Thr Single submitter
- p.Ala188Thr Single submitter combined oxidative phosphorylation defect type 4
- p.Ala254Val Single submitter
- p.Ala267Thr Single submitter Inborn genetic diseases
- p.Ala267Val Single submitter combined oxidative phosphorylation defect type 4
- p.Ala36Val Single submitter Inborn genetic diseases
- p.Ala47Val Single submitter
- p.Arg123His Single submitter Inborn genetic diseases
- p.Arg165Pro Single submitter Inborn genetic diseases
- p.Arg230Trp Single submitter
- p.Arg274Cys Single submitter
- p.Arg284His Single submitter
- p.Arg303Cys Single submitter Inborn genetic diseases
- p.Arg338Trp Single submitter
- p.Arg339Gln Single submitter combined oxidative phosphorylation defect type 4
- p.Arg339Trp Single submitter Inborn genetic diseases
- p.Arg414Gln Single submitter
- p.Arg424Cys Single submitter
- p.Asn410Ser Single submitter
- p.Cys390Tyr Single submitter Inborn genetic diseases
- p.Glu199Gln Single submitter combined oxidative phosphorylation defect type 4
- p.Glu215Asp Single submitter Inborn genetic diseases
- p.Glu317Gly Single submitter Inborn genetic diseases
- p.Gly149Val Single submitter Inborn genetic diseases
- p.Gly159Ser Single submitter
- p.Gly213Arg Single submitter
- p.Gly229Asp Single submitter Inborn genetic diseases
- p.Gly275= Single submitter combined oxidative phosphorylation defect type 4
- p.Gly322Arg Single submitter combined oxidative phosphorylation defect type 4
- p.Gly367Arg Single submitter Inborn genetic diseases
- p.His298Arg Single submitter Inborn genetic diseases
- p.His376Tyr Single submitter
- p.Ile141Met Single submitter Inborn genetic diseases
- p.Ile302Met Single submitter
- p.Leu168Ile Single submitter combined oxidative phosphorylation defect type 4
- p.Leu31Phe Single submitter Inborn genetic diseases
- p.Leu341Val Single submitter
- p.Leu34Gln Single submitter
- p.Leu34Val Single submitter combined oxidative phosphorylation defect type 4
- p.Leu41Phe Single submitter
- p.Lys212Arg Single submitter
- p.Lys314Glu Single submitter
- p.Lys398fs Single submitter
- p.Lys408Met Single submitter Inborn genetic diseases
- p.Lys450del Single submitter
- p.Lys453Ile Single submitter
- p.Met194Thr Single submitter combined oxidative phosphorylation defect type 4
- p.Met343Thr Single submitter Inborn genetic diseases
- p.Met388Ile Single submitter Inborn genetic diseases
- p.Met445Val Single submitter
- p.Pro102Ser Single submitter
- p.Pro146Thr Single submitter Inborn genetic diseases
- p.Pro160Ser Single submitter
- p.Pro232Thr Single submitter
- p.Pro260Ala Single submitter combined oxidative phosphorylation defect type 4
- p.Pro346Arg Single submitter Inborn genetic diseases
- p.Ser270= Single submitter combined oxidative phosphorylation defect type 4
- p.Ser348Cys Single submitter Inborn genetic diseases
- p.Thr281Ile Single submitter
- p.Thr442Met Single submitter
- p.Tyr125Cys Single submitter
- p.Tyr249His Single submitter
- p.Val137Ile Single submitter
- p.Val342Gly Single submitter Inborn genetic diseases
- p.Val48Met Single submitter
- p.Val61Leu Single submitter