TRAP1 — 482 ClinVar variants
All ClinVar germline TRAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 257 flagged for review →
1 Pathogenic · 7 Conflicting · 45 Benign · 16 Benign/Likely benign · 121 Likely benign · 292 Uncertain significance
Full TRAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 257
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 agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 187
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 187
- TRAP1 p.Ala319Val Uncertain significance Multiple submitters
- TRAP1 p.Ala409Thr Uncertain significance Multiple submitters
- TRAP1 p.Ala465Gly Uncertain significance Multiple submitters
- TRAP1 p.Ala474Val Uncertain significance Multiple submitters
- TRAP1 p.Ala50Ser Uncertain significance Multiple submitters
- TRAP1 p.Ala608Ser Uncertain significance Multiple submitters
- TRAP1 p.Ala628Val Uncertain significance Multiple submitters
- TRAP1 p.Ala64Thr Uncertain significance Multiple submitters
- TRAP1 p.Ala659Thr Uncertain significance Multiple submitters
- TRAP1 p.Ala659Val Uncertain significance Multiple submitters
- TRAP1 p.Ala676Val Uncertain significance Multiple submitters
- TRAP1 p.Ala679Val Uncertain significance Multiple submitters
- TRAP1 p.Ala7Val Uncertain significance Multiple submitters
- TRAP1 p.Arg271Pro Uncertain significance Multiple submitters
- TRAP1 p.Arg340His Uncertain significance Multiple submitters
- TRAP1 p.Arg402Trp Uncertain significance Multiple submitters
- TRAP1 p.Arg540His Uncertain significance Multiple submitters
- TRAP1 p.Arg593His Uncertain significance Multiple submitters
- TRAP1 p.Arg593Pro Uncertain significance Multiple submitters
- TRAP1 p.Arg619Cys Uncertain significance Multiple submitters
- TRAP1 p.Arg634His Uncertain significance Multiple submitters
- TRAP1 p.Arg703Gln Uncertain significance Multiple submitters
- TRAP1 p.Asn338Asp Uncertain significance Multiple submitters
- TRAP1 p.Glu313Gln Uncertain significance Multiple submitters
-
TRAP1 p.Glu471Lys
Uncertain significance
Multiple submitters
TRAP1-related disorder
- TRAP1 p.Glu572Lys Uncertain significance Multiple submitters
- TRAP1 p.Glu674Gln Uncertain significance Multiple submitters
- TRAP1 p.Glu695Lys Uncertain significance Multiple submitters
- TRAP1 p.Gly445Ser Uncertain significance Multiple submitters
- TRAP1 p.Ile254Val Uncertain significance Multiple submitters
- TRAP1 p.Ile255Thr Uncertain significance Multiple submitters
- TRAP1 p.Ile396Val Uncertain significance Multiple submitters
- TRAP1 p.Leu638Met Uncertain significance Multiple submitters
- TRAP1 p.Met448Val Uncertain significance Multiple submitters
- TRAP1 p.Phe283Leu Uncertain significance Multiple submitters
-
TRAP1 p.Ser118Cys
Uncertain significance
Multiple submitters
TRAP1-related disorder
- TRAP1 p.Ser473Leu Uncertain significance Multiple submitters
- TRAP1 p.Ser592Leu Uncertain significance Multiple submitters
- TRAP1 p.Thr275Met Uncertain significance Multiple submitters
- TRAP1 p.Thr552Met Uncertain significance Multiple submitters
- TRAP1 p.Val281Ile Uncertain significance Multiple submitters
- TRAP1 p.Val391Ala Uncertain significance Multiple submitters
- TRAP1 p.Val81Met Uncertain significance Multiple submitters
- TRAP1 p.Ala137Val Uncertain significance Single submitter
- TRAP1 p.Ala149Gly Uncertain significance Single submitter
- TRAP1 p.Ala176Val Uncertain significance Single submitter
- TRAP1 p.Ala223Pro Uncertain significance Single submitter
- TRAP1 p.Ala242Thr Uncertain significance Single submitter
- TRAP1 p.Ala268Gly Uncertain significance Single submitter
- TRAP1 p.Ala364Thr Uncertain significance Single submitter
- TRAP1 p.Ala465Glu Uncertain significance Single submitter
- TRAP1 p.Ala487Ser Uncertain significance Single submitter
- TRAP1 p.Ala487Thr Uncertain significance Single submitter
- TRAP1 p.Ala50Pro Uncertain significance Single submitter
- TRAP1 p.Ala55Val Uncertain significance Single submitter
- TRAP1 p.Ala571Val Uncertain significance Single submitter
- TRAP1 p.Ala649Val Uncertain significance Single submitter
- TRAP1 p.Ala700Thr Uncertain significance Single submitter
- TRAP1 p.Ala700Val Uncertain significance Single submitter
- TRAP1 p.Arg103Gln Uncertain significance Single submitter
- TRAP1 p.Arg103Trp Uncertain significance Single submitter
- TRAP1 p.Arg114Gln Uncertain significance Single submitter
- TRAP1 p.Arg114Trp Uncertain significance Single submitter
- TRAP1 p.Arg220Cys Uncertain significance Single submitter
- TRAP1 p.Arg248Thr Uncertain significance Single submitter
- TRAP1 p.Arg271Gln Uncertain significance Single submitter
- TRAP1 p.Arg291Gln Uncertain significance Single submitter
- TRAP1 p.Arg307His Uncertain significance Single submitter
- TRAP1 p.Arg326Cys Uncertain significance Single submitter
- TRAP1 p.Arg326His Uncertain significance Single submitter
- TRAP1 p.Arg340Cys Uncertain significance Single submitter
- TRAP1 p.Arg357Gln Uncertain significance Single submitter
- TRAP1 p.Arg357Trp Uncertain significance Single submitter
- TRAP1 p.Arg388Gln Uncertain significance Single submitter
- TRAP1 p.Arg415Gln Uncertain significance Single submitter
- TRAP1 p.Arg449Trp Uncertain significance Single submitter
- TRAP1 p.Arg469Gly Uncertain significance Single submitter
- TRAP1 p.Arg491Gly Uncertain significance Single submitter
- TRAP1 p.Arg623Cys Uncertain significance Single submitter
- TRAP1 p.Arg647Thr Uncertain significance Single submitter
- TRAP1 p.Arg658His Uncertain significance Single submitter
- TRAP1 p.Arg687Thr Uncertain significance Single submitter
- TRAP1 p.Asn119Ser Uncertain significance Single submitter
- TRAP1 p.Asn279Ser Uncertain significance Single submitter
- TRAP1 p.Asn48Lys Uncertain significance Single submitter
- TRAP1 p.Asn504Ser Uncertain significance Single submitter
-
TRAP1 p.Asp158His
Uncertain significance
Single submitter
VACTERL/vater association
- TRAP1 p.Asp347Asn Uncertain significance Single submitter
- TRAP1 p.Asp66Gly Uncertain significance Single submitter
- TRAP1 p.Asp670Gly Uncertain significance Single submitter
- TRAP1 p.Cys573Gly Uncertain significance Single submitter
- TRAP1 p.Gln146Glu Uncertain significance Single submitter
- TRAP1 p.Gln165Glu Uncertain significance Single submitter
- TRAP1 p.Gln296Glu Uncertain significance Single submitter
- TRAP1 p.Gln639Leu Uncertain significance Single submitter
- TRAP1 p.Gln82His Uncertain significance Single submitter
- TRAP1 p.Glu192Asp Uncertain significance Single submitter
- TRAP1 p.Glu312Asp Uncertain significance Single submitter
- TRAP1 p.Glu403Lys Uncertain significance Single submitter
- TRAP1 p.Glu457Lys Uncertain significance Single submitter
- TRAP1 p.Glu533Lys Uncertain significance Single submitter
- TRAP1 p.Glu541Asp Uncertain significance Single submitter
- TRAP1 p.Glu572Val Uncertain significance Single submitter
- TRAP1 p.Glu632Gln Uncertain significance Single submitter
- TRAP1 p.Glu93Ala Uncertain significance Single submitter
- TRAP1 p.Gly135Asp Uncertain significance Single submitter
- TRAP1 p.Gly173Ala Uncertain significance Single submitter
- TRAP1 p.Gly250Arg Uncertain significance Single submitter
- TRAP1 p.Gly445Asp Uncertain significance Single submitter
- TRAP1 p.Gly493Ser Uncertain significance Single submitter
- TRAP1 p.Gly681Arg Uncertain significance Single submitter
- TRAP1 p.His144Asp Uncertain significance Single submitter
- TRAP1 p.His510Gln Uncertain significance Single submitter
- TRAP1 p.His538Asp Uncertain significance Single submitter
- TRAP1 p.His72Pro Uncertain significance Single submitter
- TRAP1 p.His72Tyr Uncertain significance Single submitter
- TRAP1 p.Ile113Val Uncertain significance Single submitter
- TRAP1 p.Ile161Val Uncertain significance Single submitter
- TRAP1 p.Ile198Met Uncertain significance Single submitter
- TRAP1 p.Ile33Val Uncertain significance Single submitter
- TRAP1 p.Ile379Met Uncertain significance Single submitter
- TRAP1 p.Ile396Thr Uncertain significance Single submitter
- TRAP1 p.Ile464Val Uncertain significance Single submitter
- TRAP1 p.Ile672Thr Uncertain significance Single submitter
- TRAP1 p.Ile75Val Uncertain significance Single submitter
- TRAP1 p.Leu380Pro Uncertain significance Single submitter
- TRAP1 p.Leu43Val Uncertain significance Single submitter
- TRAP1 p.Leu525Pro Uncertain significance Single submitter
- TRAP1 p.Leu534Val Uncertain significance Single submitter
- TRAP1 p.Leu627Val Uncertain significance Single submitter
- TRAP1 p.Lys126Thr Uncertain significance Single submitter
- TRAP1 p.Lys252Glu Uncertain significance Single submitter
- TRAP1 p.Lys304Glu Uncertain significance Single submitter
- TRAP1 p.Lys332Arg Uncertain significance Single submitter
- TRAP1 p.Lys369Arg Uncertain significance Single submitter
- TRAP1 p.Lys432Glu Uncertain significance Single submitter
- TRAP1 p.Lys520Thr Uncertain significance Single submitter
- TRAP1 p.Lys544Arg Uncertain significance Single submitter
- TRAP1 p.Lys546Arg Uncertain significance Single submitter
- TRAP1 p.Lys546Gln Uncertain significance Single submitter
- TRAP1 p.Lys560Glu Uncertain significance Single submitter
- TRAP1 p.Lys577Arg Uncertain significance Single submitter
- TRAP1 p.Met292Thr Uncertain significance Single submitter
- TRAP1 p.Met348Val Uncertain significance Single submitter
- TRAP1 p.Met583Thr Uncertain significance Single submitter
- TRAP1 p.Met609Leu Uncertain significance Single submitter
- TRAP1 p.Met624Thr Uncertain significance Single submitter
- TRAP1 p.Met624Val Uncertain significance Single submitter
- TRAP1 p.Met689Val Uncertain significance Single submitter
- TRAP1 p.Phe314Ile Uncertain significance Single submitter
Predictors split 66
The independent predictors disagree with each other — read with care.
- TRAP1 p.Arg128His Benign/Likely benign Multiple submitters
- TRAP1 p.Arg469Cys Uncertain significance Multiple submitters
-
TRAP1 p.Arg469His
Benign/Likely benign
Multiple submitters
congenital anomaly of kidney and urinary tract
- TRAP1 p.Arg491Trp Uncertain significance Multiple submitters
- TRAP1 p.Arg540Pro Uncertain significance Multiple submitters
- TRAP1 p.Arg692His Benign Multiple submitters
- TRAP1 p.Asp260Asn Uncertain significance Multiple submitters
- TRAP1 p.Asp395Glu Benign Multiple submitters
- TRAP1 p.Glu243Lys Uncertain significance Multiple submitters
- TRAP1 p.Glu442Lys Uncertain significance Multiple submitters
- TRAP1 p.Ile253Val Benign/Likely benign Multiple submitters
-
TRAP1 p.Lys95Glu
Uncertain significance
Multiple submitters
TRAP1-related disorder
- TRAP1 p.Pro224Leu Uncertain significance Multiple submitters
- TRAP1 p.Pro476Leu Uncertain significance Multiple submitters
- TRAP1 p.Ala502Thr Uncertain significance Single submitter
- TRAP1 p.Ala617Val Uncertain significance Single submitter
- TRAP1 p.Arg128Cys Uncertain significance Single submitter
- TRAP1 p.Arg214Ile Uncertain significance Single submitter
- TRAP1 p.Arg220His Uncertain significance Single submitter
- TRAP1 p.Arg368Cys Uncertain significance Single submitter
- TRAP1 p.Arg368His Uncertain significance Single submitter
- TRAP1 p.Arg385His Uncertain significance Single submitter
- TRAP1 p.Arg415Trp Uncertain significance Single submitter
- TRAP1 p.Arg540Cys Uncertain significance Single submitter
- TRAP1 p.Arg593Cys Uncertain significance Single submitter
- TRAP1 p.Arg634Cys Uncertain significance Single submitter
- TRAP1 p.Arg658Cys Uncertain significance Single submitter
- TRAP1 p.Arg687Ser Uncertain significance Single submitter
- TRAP1 p.Arg692Cys Uncertain significance Single submitter
- TRAP1 p.Asn504Lys Uncertain significance Single submitter
- TRAP1 p.Asn694His Uncertain significance Single submitter
- TRAP1 p.Asp272Gly Uncertain significance Single submitter
- TRAP1 p.Asp272Val Uncertain significance Single submitter
- TRAP1 p.Glu110Asp Uncertain significance Single submitter
- TRAP1 p.Glu150Lys Uncertain significance Single submitter
- TRAP1 p.Glu267Lys Uncertain significance Single submitter
- TRAP1 p.Glu462Asp Likely benign Single submitter
- TRAP1 p.Glu541Lys Uncertain significance Single submitter
- TRAP1 p.Glu661Lys Uncertain significance Single submitter
- TRAP1 p.Glu93Gln Uncertain significance Single submitter
- TRAP1 p.Gly228Cys Uncertain significance Single submitter
- TRAP1 p.Gly478Glu Uncertain significance Single submitter
- TRAP1 p.Gly616Val Uncertain significance Single submitter
- TRAP1 p.His256Asn Uncertain significance Single submitter
- TRAP1 p.Ile100Val Likely benign Single submitter
- TRAP1 p.Ile161Thr Uncertain significance Single submitter
- TRAP1 p.Ile464Thr Uncertain significance Single submitter
- TRAP1 p.Leu131Val Uncertain significance Single submitter
- TRAP1 p.Leu582Phe Uncertain significance Single submitter
- TRAP1 p.Leu622Gln Uncertain significance Single submitter
- TRAP1 p.Lys424Thr Uncertain significance Single submitter
- TRAP1 p.Lys95Asn Uncertain significance Single submitter
- TRAP1 p.Phe264Leu Uncertain significance Single submitter
- TRAP1 p.Ser107Ala Uncertain significance Single submitter
- TRAP1 p.Ser226Ile Uncertain significance Single submitter
- TRAP1 p.Ser259Cys Uncertain significance Single submitter
- TRAP1 p.Ser430Asn Uncertain significance Single submitter
- TRAP1 p.Ser488Arg Uncertain significance Single submitter
- TRAP1 p.Ser76Cys Uncertain significance Single submitter
- TRAP1 p.Thr159Ala Uncertain significance Single submitter
- TRAP1 p.Thr174Met Uncertain significance Single submitter
- TRAP1 p.Thr333Met Uncertain significance Single submitter
- TRAP1 p.Thr630Ile Uncertain significance Single submitter
- TRAP1 p.Tyr331Cys Uncertain significance Single submitter
- TRAP1 p.Val550Leu Uncertain significance Single submitter
- TRAP1 p.Val612Met Uncertain significance Single submitter
All TRAP1 variants
Pathogenic 1
- p.Gln639Ter No assertion criteria congenital anomalies of kidney and urinary tract 1
Conflicting classifications of pathogenicity 7
- c.1165+5G>A Single submitter
- p.Ala649Thr Single submitter TRAP1-related disorder ⚠
- p.Arg37Trp Single submitter ⚠
- p.Arg602Gln Single submitter
- p.Asp685Asn Single submitter HER2 positive breast carcinoma
- p.Phe59Leu Single submitter ⚠
- p.Val363Ile Single submitter ⚠
Benign 45
- c.1235+16C>T Multiple submitters
- c.1708+12C>T Multiple submitters
- c.2014-52del Multiple submitters
- c.330+169G>A Multiple submitters
- c.331-10A>G Multiple submitters
- c.471+18C>T Multiple submitters
- c.543+6C>T Multiple submitters
- c.705-14T>C Multiple submitters
- c.705-308A>C Multiple submitters
- p.Arg491Gln Multiple submitters
- p.Arg692His Multiple submitters ⚠
- p.Asp395Glu Multiple submitters ⚠
- p.Asp684= Multiple submitters
- p.Ile198= Multiple submitters
- p.Tyr344= Multiple submitters
- c.1045-225G>C Single submitter
- c.1045-6C>T Single submitter
- c.1165+4C>T Single submitter
- c.1166-11_1166-10insC Single submitter
- c.1166-11G>C Single submitter
- c.1235+15G>A Single submitter
- c.1235+9C>G Single submitter
- c.1236-248del Single submitter
- c.1383+17C>G Single submitter
- c.1709-11C>A Single submitter
- c.2013+103GTTT[5] Single submitter
- c.2013+15_2013+27del Single submitter
- c.2013+227C>T Single submitter
- c.330+95A>C Single submitter
- c.331-17C>T Single submitter
- c.705-234_705-220del Single submitter
- c.814+6C>T Single submitter
- c.88+7086T>C Single submitter
- c.888+8C>G Single submitter
- c.889-19C>T Single submitter
- c.889-9C>T Single submitter
- c.89-14A>G Single submitter
- p.Asp134= Single submitter
- p.Glu313del Single submitter
- p.Met210Thr Single submitter
- p.Ser259Leu Single submitter
- p.Ser477_Gly478insAla Single submitter
- p.Thr275= Single submitter
- p.Thr535Ser Single submitter hereditary renal cell carcinoma
- p.Thr641Met Single submitter
Benign/Likely benign 16
- c.1044+10T>C Multiple submitters
- c.1940+11G>A Multiple submitters
- c.2014-7C>T Multiple submitters
- c.814+15G>A Multiple submitters
- c.889-15G>A Multiple submitters
- c.89-5T>C Multiple submitters
- p.Ala222= Multiple submitters
- p.Arg128His Multiple submitters ⚠
- p.Arg307Gly Multiple submitters
- p.Arg469His Multiple submitters congenital anomaly of kidney and urinary tract ⚠
- p.Glu192Lys Multiple submitters
- p.His311= Multiple submitters
- p.Ile253Val Multiple submitters ⚠
- p.Ter705Cys Multiple submitters
- p.Tyr444Asn Multiple submitters
- p.Val555= Multiple submitters
Likely benign 121
- c.1795-16C>T Multiple submitters
- c.543+7G>A Multiple submitters
- p.Ala571= Multiple submitters
- p.Pro350= Multiple submitters
- p.Thr611= Multiple submitters
- p.Tyr317= Multiple submitters
- c.1045-10T>A Single submitter
- c.1165+19G>A Single submitter
- c.1166-11G>A Single submitter
- c.1166-12C>T Single submitter
- c.1235+20G>A Single submitter
- c.1235+9C>T Single submitter
- c.1236-19A>C Single submitter
- c.1236-5T>C Single submitter
- c.1236-6C>T Single submitter
- c.1383+20G>A Single submitter
- c.1569+10C>T Single submitter
- c.1570-12G>C Single submitter
- c.1708+19C>T Single submitter
- c.1709-17C>T Single submitter
- c.1709-5C>T Single submitter
- c.1794+13C>T Single submitter
- c.1795-12C>A Single submitter
- c.2014-15C>T Single submitter
- c.2014-8C>T Single submitter
- c.247+12T>G Single submitter
- c.248-6T>C Single submitter
- c.330+8C>T Single submitter
- c.331-12C>T Single submitter
- c.331-4G>T Single submitter
- c.472-6C>T Single submitter
- c.472-7T>G Single submitter
- c.543+13C>G Single submitter
- c.704+10G>A Single submitter
- c.704+16C>T Single submitter
- c.704+17G>A Single submitter
- c.704+18C>T Single submitter
- c.704+9C>T Single submitter
- c.705-16T>G Single submitter
- c.814+7G>A Single submitter
- c.815-7C>T Single submitter
- c.889-10C>G Single submitter
- c.889-15G>T Single submitter
- c.889-18G>T Single submitter
- c.889-4C>T Single submitter
- c.889-8G>A Single submitter
- p.Ala120= Single submitter
- p.Ala186Thr Single submitter
- p.Ala242= Single submitter
- p.Ala319= Single submitter
- p.Ala41Val Single submitter
- p.Ala455Thr Single submitter
- p.Ala487= Single submitter
- p.Ala492= Single submitter
- p.Ala502= Single submitter
- p.Ala508= Single submitter
- p.Ala50Val Single submitter
- p.Ala570= Single submitter
- p.Ala680= Single submitter
- p.Arg103= Single submitter
- p.Arg316= Single submitter
- p.Arg47Gln Single submitter
- p.Arg658= Single submitter
- p.Asn675= Single submitter
- p.Asp185Glu Single submitter
- p.Asp334= Single submitter
- p.Cys35= Single submitter
- p.Gln146= Single submitter
- p.Gln320= Single submitter
- p.Gln42= Single submitter
- p.Glu263= Single submitter
- p.Glu462Asp Single submitter ⚠
- p.Glu533= Single submitter
- p.Glu565= Single submitter
- p.Gly179= Single submitter
- p.His506= Single submitter
- p.His648= Single submitter
- p.Ile100Val Single submitter ⚠
- p.Ile117= Single submitter
- p.Ile253= Single submitter
- p.Ile452= Single submitter
- p.Leu227= Single submitter
- p.Leu34= Single submitter
- p.Leu371Val Single submitter
- p.Leu446= Single submitter
- p.Leu468= Single submitter
- p.Leu539= Single submitter
- p.Leu58= Single submitter
- p.Leu638= Single submitter
- p.Lys262= Single submitter
- p.Lys375= Single submitter
- p.Lys466= Single submitter
- p.Pro346= Single submitter
- p.Pro49Leu Single submitter
- p.Ser104= Single submitter
- p.Ser121= Single submitter
- p.Ser207= Single submitter
- p.Ser221= Single submitter
- p.Ser245= Single submitter
- p.Ser259= Single submitter
- p.Ser477= Single submitter
- p.Ser511= Single submitter
- p.Ser73= Single submitter
- p.Thr249= Single submitter
- p.Thr456= Single submitter
- p.Thr552= Single submitter
- p.Thr63= Single submitter
- p.Thr641= Single submitter
- p.Tyr327= Single submitter
- p.Tyr366= Single submitter
- p.Tyr486= Single submitter
- p.Tyr673= Single submitter
- p.Val281= Single submitter
- c.1166-4C>T No assertion criteria TRAP1-related disorder
- c.1940+8C>T No assertion criteria TRAP1-related disorder
- p.Gly30= No assertion criteria TRAP1-related disorder
- p.His322= No assertion criteria TRAP1-related disorder
- p.Ile411= No assertion criteria TRAP1-related disorder
- p.Leu414= No assertion criteria TRAP1-related disorder
- p.Ser362= No assertion criteria TRAP1-related disorder
- p.Ser84= No assertion criteria TRAP1-related disorder
Uncertain significance 292
- p.Ala319Val Multiple submitters ⚠
- p.Ala409Thr Multiple submitters ⚠
- p.Ala465Gly Multiple submitters ⚠
- p.Ala474Val Multiple submitters ⚠
- p.Ala50Ser Multiple submitters ⚠
- p.Ala608Ser Multiple submitters ⚠
- p.Ala628Val Multiple submitters ⚠
- p.Ala64Thr Multiple submitters ⚠
- p.Ala659Thr Multiple submitters ⚠
- p.Ala659Val Multiple submitters ⚠
- p.Ala676Val Multiple submitters ⚠
- p.Ala679Val Multiple submitters ⚠
- p.Ala7Val Multiple submitters ⚠
- p.Arg271Pro Multiple submitters ⚠
- p.Arg340His Multiple submitters ⚠
- p.Arg402Trp Multiple submitters ⚠
- p.Arg449Gln Multiple submitters
- p.Arg469Cys Multiple submitters ⚠
- p.Arg491Trp Multiple submitters ⚠
- p.Arg495His Multiple submitters
- p.Arg540His Multiple submitters ⚠
- p.Arg540Pro Multiple submitters ⚠
- p.Arg593His Multiple submitters ⚠
- p.Arg593Pro Multiple submitters ⚠
- p.Arg619Cys Multiple submitters ⚠
- p.Arg634His Multiple submitters ⚠
- p.Arg703Gln Multiple submitters ⚠
- p.Arg703Ter Multiple submitters
- p.Asn338Asp Multiple submitters ⚠
- p.Asp260Asn Multiple submitters ⚠
- p.Glu243Lys Multiple submitters ⚠
- p.Glu313Gln Multiple submitters ⚠
- p.Glu442Lys Multiple submitters ⚠
- p.Glu471Lys Multiple submitters TRAP1-related disorder ⚠
- p.Glu572Lys Multiple submitters ⚠
- p.Glu674Gln Multiple submitters ⚠
- p.Glu695Lys Multiple submitters ⚠
- p.Gly445Ser Multiple submitters ⚠
- p.Ile254Val Multiple submitters ⚠
- p.Ile255Thr Multiple submitters ⚠
- p.Ile396Val Multiple submitters ⚠
- p.Leu638Met Multiple submitters ⚠
- p.Lys95Glu Multiple submitters TRAP1-related disorder ⚠
- p.Met448Val Multiple submitters ⚠
- p.Phe283Leu Multiple submitters ⚠
- p.Pro224Leu Multiple submitters ⚠
- p.Pro346Ala Multiple submitters
- p.Pro476Leu Multiple submitters ⚠
- p.Ser118Cys Multiple submitters TRAP1-related disorder ⚠
- p.Ser473Leu Multiple submitters ⚠
- p.Ser592Leu Multiple submitters ⚠
- p.Thr275Met Multiple submitters ⚠
- p.Thr552Met Multiple submitters ⚠
- p.Val281Ile Multiple submitters ⚠
- p.Val391Ala Multiple submitters ⚠
- p.Val81Met Multiple submitters ⚠
- c.1045-3C>G Single submitter
- c.1384-1G>A Single submitter
- c.1708+3C>T Single submitter
- c.1795-16C>A Single submitter
- c.1795-3C>G Single submitter
- c.1938_1940+8dup Single submitter
- c.1941-1G>A Single submitter
- c.330+4C>T Single submitter
- c.331-18_331-17delinsAT Single submitter
- c.331-1G>A Single submitter
- c.472-3C>T Single submitter
- c.704+5G>C Single submitter
- c.705-2A>G Single submitter
- c.814+1G>A Single submitter
- c.815-1G>C Single submitter
- c.88+1G>A Single submitter
- c.888+6C>A Single submitter
- p.Ala137Val Single submitter ⚠
- p.Ala149Gly Single submitter ⚠
- p.Ala176Val Single submitter ⚠
- p.Ala223Pro Single submitter ⚠
- p.Ala242Thr Single submitter ⚠
- p.Ala268Gly Single submitter ⚠
- p.Ala364Thr Single submitter ⚠
- p.Ala465Glu Single submitter ⚠
- p.Ala487Ser Single submitter ⚠
- p.Ala487Thr Single submitter ⚠
- p.Ala502Thr Single submitter ⚠
- p.Ala50Pro Single submitter ⚠
- p.Ala55Val Single submitter ⚠
- p.Ala571Val Single submitter ⚠
- p.Ala617Val Single submitter ⚠
- p.Ala649Val Single submitter ⚠
- p.Ala64fs Single submitter
- p.Ala700Thr Single submitter ⚠
- p.Ala700Val Single submitter ⚠
- p.Arg103Gln Single submitter ⚠
- p.Arg103Trp Single submitter ⚠
- p.Arg114Gln Single submitter ⚠
- p.Arg114Trp Single submitter ⚠
- p.Arg128Cys Single submitter ⚠
- p.Arg214Ile Single submitter ⚠
- p.Arg220Cys Single submitter ⚠
- p.Arg220His Single submitter ⚠
- p.Arg248Thr Single submitter ⚠
- p.Arg271Gln Single submitter ⚠
- p.Arg291Gln Single submitter ⚠
- p.Arg307His Single submitter ⚠
- p.Arg326Cys Single submitter ⚠
- p.Arg326His Single submitter ⚠
- p.Arg340Cys Single submitter ⚠
- p.Arg357Gln Single submitter ⚠
- p.Arg357Trp Single submitter ⚠
- p.Arg368Cys Single submitter ⚠
- p.Arg368His Single submitter ⚠
- p.Arg385Cys Single submitter
- p.Arg385His Single submitter ⚠
- p.Arg388Gln Single submitter ⚠
- p.Arg388Ter Single submitter
- p.Arg415Gln Single submitter ⚠
- p.Arg415Trp Single submitter ⚠
- p.Arg449Trp Single submitter ⚠
- p.Arg469Gly Single submitter ⚠
- p.Arg491Gly Single submitter ⚠
- p.Arg495Cys Single submitter
- p.Arg505His Single submitter
- p.Arg540Cys Single submitter ⚠
- p.Arg593Cys Single submitter ⚠
- p.Arg623Cys Single submitter ⚠
- p.Arg623His Single submitter
- p.Arg634Cys Single submitter ⚠
- p.Arg647Thr Single submitter ⚠
- p.Arg658Cys Single submitter ⚠
- p.Arg658His Single submitter ⚠
- p.Arg687Ser Single submitter ⚠
- p.Arg687Thr Single submitter ⚠
- p.Arg692Cys Single submitter ⚠
- p.Asn119Ser Single submitter ⚠
- p.Asn279Ser Single submitter ⚠
- p.Asn48Lys Single submitter ⚠
- p.Asn504Lys Single submitter ⚠
- p.Asn504Ser Single submitter ⚠
- p.Asn694His Single submitter ⚠
- p.Asp158His Single submitter VACTERL/vater association ⚠
- p.Asp272Gly Single submitter ⚠
- p.Asp272Val Single submitter ⚠
- p.Asp347Asn Single submitter ⚠
- p.Asp66Gly Single submitter ⚠
- p.Asp670Gly Single submitter ⚠
- p.Cys573Gly Single submitter ⚠
- p.Gln146Glu Single submitter ⚠
- p.Gln165Glu Single submitter ⚠
- p.Gln230Ter Single submitter
- p.Gln296Glu Single submitter ⚠
- p.Gln639Leu Single submitter ⚠
- p.Gln82His Single submitter ⚠
- p.Glu110Asp Single submitter ⚠
- p.Glu150Lys Single submitter ⚠
- p.Glu192Asp Single submitter ⚠
- p.Glu267Lys Single submitter ⚠
- p.Glu312Asp Single submitter ⚠
- p.Glu403Lys Single submitter ⚠
- p.Glu457Lys Single submitter ⚠
- p.Glu533Lys Single submitter ⚠
- p.Glu541Asp Single submitter ⚠
- p.Glu541Lys Single submitter ⚠
- p.Glu562del Single submitter
- p.Glu572Ter Single submitter
- p.Glu572Val Single submitter ⚠
- p.Glu632Gln Single submitter ⚠
- p.Glu661Lys Single submitter ⚠
- p.Glu89Val Single submitter
- p.Glu93Ala Single submitter ⚠
- p.Glu93Gln Single submitter ⚠
- p.Gly135Asp Single submitter ⚠
- p.Gly173Ala Single submitter ⚠
- p.Gly228Cys Single submitter ⚠
- p.Gly250Arg Single submitter ⚠
- p.Gly445Asp Single submitter ⚠
- p.Gly478Glu Single submitter ⚠
- p.Gly493Ser Single submitter ⚠
- p.Gly616Val Single submitter ⚠
- p.Gly681Arg Single submitter ⚠
- p.His144Asp Single submitter ⚠
- p.His256Asn Single submitter ⚠
- p.His510Gln Single submitter ⚠
- p.His538Asp Single submitter ⚠
- p.His72Pro Single submitter ⚠
- p.His72Tyr Single submitter ⚠
- p.Ile113Val Single submitter ⚠
- p.Ile161Thr Single submitter ⚠
- p.Ile161Val Single submitter ⚠
- p.Ile198Met Single submitter ⚠
- p.Ile33Val Single submitter ⚠
- p.Ile379Met Single submitter ⚠
- p.Ile396Thr Single submitter ⚠
- p.Ile464Thr Single submitter ⚠
- p.Ile464Val Single submitter ⚠
- p.Ile672Thr Single submitter ⚠
- p.Ile75Val Single submitter ⚠
- p.Leu131Val Single submitter ⚠
- p.Leu380Pro Single submitter ⚠
- p.Leu43Val Single submitter ⚠
- p.Leu525Pro Single submitter ⚠
- p.Leu534Val Single submitter ⚠
- p.Leu574Pro Single submitter
- p.Leu582Phe Single submitter ⚠
- p.Leu622Gln Single submitter ⚠
- p.Leu627Val Single submitter ⚠
- p.Leu664fs Single submitter
- p.Leu701fs Single submitter
- p.Lys126Thr Single submitter ⚠
- p.Lys252Glu Single submitter ⚠
- p.Lys304Glu Single submitter ⚠
- p.Lys332Arg Single submitter ⚠
- p.Lys369Arg Single submitter ⚠
- p.Lys413Gln Single submitter
- p.Lys424Thr Single submitter ⚠
- p.Lys432Glu Single submitter ⚠
- p.Lys520del Single submitter
- p.Lys520Thr Single submitter ⚠
- p.Lys544Arg Single submitter ⚠
- p.Lys546Arg Single submitter ⚠
- p.Lys546Gln Single submitter ⚠
- p.Lys560Glu Single submitter ⚠
- p.Lys577Arg Single submitter ⚠
- p.Lys95Asn Single submitter ⚠
- p.Met292Thr Single submitter ⚠
- p.Met348Val Single submitter ⚠
- p.Met583Thr Single submitter ⚠
- p.Met609Leu Single submitter ⚠
- p.Met624Thr Single submitter ⚠
- p.Met624Val Single submitter ⚠
- p.Met689Val Single submitter ⚠
- p.Phe264Leu Single submitter ⚠
- p.Phe314Ile Single submitter ⚠
- p.Phe526Val Single submitter ⚠
- p.Pro336Gln Single submitter ⚠
- p.Pro336Leu Single submitter ⚠
- p.Pro336Ser Single submitter ⚠
- p.Pro336Thr Single submitter ⚠
- p.Pro350Gln Single submitter ⚠
- p.Pro350Leu Single submitter
- p.Pro397Ser Single submitter ⚠
- p.Pro503Ser Single submitter
- p.Pro686Arg Single submitter TRAP1-related disorder ⚠
- p.Ser107Ala Single submitter ⚠
- p.Ser195Arg Single submitter
- p.Ser226Arg Single submitter
- p.Ser226Ile Single submitter ⚠
- p.Ser245Leu Single submitter ⚠
- p.Ser259Cys Single submitter ⚠
- p.Ser408Ile Single submitter ⚠
- p.Ser430Asn Single submitter ⚠
- p.Ser482Arg Single submitter ⚠
- p.Ser484Leu Single submitter ⚠
- p.Ser488Arg Single submitter ⚠
- p.Ser549Phe Single submitter ⚠
- p.Ser568Phe Single submitter ⚠
- p.Ser660Thr Single submitter ⚠
- p.Ser76Cys Single submitter ⚠
- p.Ser80Asn Single submitter ⚠
- p.Ser84Cys Single submitter ⚠
- p.Ter705Arg Single submitter
- p.Thr155Ser Single submitter ⚠
- p.Thr159Ala Single submitter ⚠
- p.Thr174Met Single submitter ⚠
- p.Thr328Ile Single submitter ⚠
- p.Thr333Met Single submitter ⚠
- p.Thr377Met Single submitter ⚠
- p.Thr456Ser Single submitter ⚠
- p.Thr579Met Single submitter ⚠
- p.Thr595Ala Single submitter ⚠
- p.Thr600Ile Single submitter ⚠
- p.Thr630Ile Single submitter ⚠
- p.Trp231Arg Single submitter ⚠
- p.Trp585Arg Single submitter ⚠
- p.Tyr315His Single submitter ⚠
- p.Tyr331Cys Single submitter ⚠
- p.Tyr498Cys Single submitter ⚠
- p.Val169Leu Single submitter ⚠
- p.Val238Ala Single submitter ⚠
- p.Val273Gly Single submitter ⚠
- p.Val318Ile Single submitter ⚠
- p.Val345Met Single submitter
- p.Val355Ala Single submitter ⚠
- p.Val550Leu Single submitter ⚠
- p.Val597Leu Single submitter
- p.Val599Met Single submitter ⚠
- p.Val612Met Single submitter ⚠
- p.Val669Leu Single submitter ⚠
- p.Val683Leu Single submitter ⚠
- p.Ala191_Glu192insTer No assertion criteria
- p.Glu167Lys No assertion criteria ⚠
- p.Lys577fs No assertion criteria
- p.Ser107Ter No assertion criteria