TRAF3IP1 — 510 ClinVar variants
All ClinVar germline TRAF3IP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 236 flagged for review →
21 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 8 Conflicting · 27 Benign · 1 Benign/Likely benign · 178 Likely benign · 266 Uncertain significance
Full TRAF3IP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 236
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 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TRAF3IP1 p.Ala479Val
Conflicting
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Arg192Ser
Conflicting
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Arg230Gln
Conflicting
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Arg237Lys
Conflicting
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Arg407Trp
Conflicting
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Gly209Arg
Conflicting
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Ser146Pro
Conflicting
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Thr424Pro
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 190
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 190
-
TRAF3IP1 p.Ala431Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Ala571Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Ala651Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Arg192His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Arg213Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Arg245His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Arg297Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Arg348Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Arg565Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Asn500Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Asp640Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Asp65His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Gln679Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Glu229Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Glu244Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Glu254Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRAF3IP1 p.Glu497Lys Uncertain significance Multiple submitters
-
TRAF3IP1 p.Glu564Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Glu630Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Gly255Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Gly285Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Ile455Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Lys174Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Lys205Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Met82Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Pro560Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Pro87Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Ser518Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Ser557Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Thr381Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Thr382Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Thr416Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Thr547Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Thr588Met
Uncertain significance
Multiple submitters
Senior-Loken syndrome 9
-
TRAF3IP1 p.Tyr551Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Val579Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Val611Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRAF3IP1 p.Ala12Ser Uncertain significance Single submitter
- TRAF3IP1 p.Ala130Asp Uncertain significance Single submitter
- TRAF3IP1 p.Ala171Thr Uncertain significance Single submitter
-
TRAF3IP1 p.Ala222Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Ala307Val Uncertain significance Single submitter
- TRAF3IP1 p.Ala391Thr Uncertain significance Single submitter
- TRAF3IP1 p.Ala3Gly Uncertain significance Single submitter
- TRAF3IP1 p.Ala427Gly Uncertain significance Single submitter
- TRAF3IP1 p.Ala528Thr Uncertain significance Single submitter
- TRAF3IP1 p.Ala56Thr Uncertain significance Single submitter
- TRAF3IP1 p.Ala571Gly Uncertain significance Single submitter
- TRAF3IP1 p.Ala597Val Uncertain significance Single submitter
- TRAF3IP1 p.Ala651Val Uncertain significance Single submitter
- TRAF3IP1 p.Ala68Thr Uncertain significance Single submitter
- TRAF3IP1 p.Arg145Ile Uncertain significance Single submitter
- TRAF3IP1 p.Arg145Ser Uncertain significance Single submitter
- TRAF3IP1 p.Arg182Gln Uncertain significance Single submitter
- TRAF3IP1 p.Arg192Leu Uncertain significance Single submitter
- TRAF3IP1 p.Arg217Thr Uncertain significance Single submitter
-
TRAF3IP1 p.Arg237Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Arg277Ser Uncertain significance Single submitter
-
TRAF3IP1 p.Arg279Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Arg280Gln Uncertain significance Single submitter
- TRAF3IP1 p.Arg280Trp Uncertain significance Single submitter
-
TRAF3IP1 p.Arg293Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Arg347Gln Uncertain significance Single submitter
- TRAF3IP1 p.Arg348Gln Uncertain significance Single submitter
- TRAF3IP1 p.Arg457Lys Uncertain significance Single submitter
- TRAF3IP1 p.Arg470Gln Uncertain significance Single submitter
- TRAF3IP1 p.Arg484Lys Uncertain significance Single submitter
- TRAF3IP1 p.Arg690Lys Uncertain significance Single submitter
- TRAF3IP1 p.Arg8Gln Uncertain significance Single submitter
-
TRAF3IP1 p.Asn117His
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Asn378Thr Uncertain significance Single submitter
- TRAF3IP1 p.Asn402Ser Uncertain significance Single submitter
- TRAF3IP1 p.Asn449Lys Uncertain significance Single submitter
- TRAF3IP1 p.Asn493Asp Uncertain significance Single submitter
-
TRAF3IP1 p.Asn670Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Asn674Asp Uncertain significance Single submitter
- TRAF3IP1 p.Asp123Glu Uncertain significance Single submitter
-
TRAF3IP1 p.Asp200Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Asp264Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Asp270Asn Uncertain significance Single submitter
- TRAF3IP1 p.Asp272Asn Uncertain significance Single submitter
- TRAF3IP1 p.Asp292Val Uncertain significance Single submitter
-
TRAF3IP1 p.Asp430His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Asp507Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Asp67Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Cys408Arg Uncertain significance Single submitter
- TRAF3IP1 p.Gln109Arg Uncertain significance Single submitter
- TRAF3IP1 p.Gln109Pro Uncertain significance Single submitter
- TRAF3IP1 p.Gln231Arg Uncertain significance Single submitter
-
TRAF3IP1 p.Gln412His
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Gln412Pro Uncertain significance Single submitter
- TRAF3IP1 p.Gln619Arg Uncertain significance Single submitter
- TRAF3IP1 p.Glu157Lys Uncertain significance Single submitter
- TRAF3IP1 p.Glu175Asp Uncertain significance Single submitter
- TRAF3IP1 p.Glu190Lys Uncertain significance Single submitter
- TRAF3IP1 p.Glu196Gly Uncertain significance Single submitter
- TRAF3IP1 p.Glu216Gly Uncertain significance Single submitter
- TRAF3IP1 p.Glu238Gly Uncertain significance Single submitter
- TRAF3IP1 p.Glu244Lys Uncertain significance Single submitter
-
TRAF3IP1 p.Glu248Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Glu286Asp Uncertain significance Single submitter
- TRAF3IP1 p.Glu303Gly Uncertain significance Single submitter
-
TRAF3IP1 p.Glu311Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Glu327Gly Uncertain significance Single submitter
- TRAF3IP1 p.Glu327Lys Uncertain significance Single submitter
-
TRAF3IP1 p.Glu409Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Glu409Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Glu617Gln Uncertain significance Single submitter
- TRAF3IP1 p.Gly131Ala Uncertain significance Single submitter
- TRAF3IP1 p.Gly255Arg Uncertain significance Single submitter
- TRAF3IP1 p.Gly255Val Uncertain significance Single submitter
-
TRAF3IP1 p.Gly310Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Gly421Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Gly429Glu Uncertain significance Single submitter
- TRAF3IP1 p.Gly488Ser Uncertain significance Single submitter
- TRAF3IP1 p.Gly98Ala Uncertain significance Single submitter
- TRAF3IP1 p.Gly98Val Uncertain significance Single submitter
-
TRAF3IP1 p.His162Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.His162Pro Uncertain significance Single submitter
- TRAF3IP1 p.His212Arg Uncertain significance Single submitter
- TRAF3IP1 p.His212Gln Uncertain significance Single submitter
-
TRAF3IP1 p.His299Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Ile17Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Ile369Val Uncertain significance Single submitter
- TRAF3IP1 p.Ile373Met Uncertain significance Single submitter
- TRAF3IP1 p.Ile495Val Uncertain significance Single submitter
- TRAF3IP1 p.Ile583Met Uncertain significance Single submitter
- TRAF3IP1 p.Ile583Val Uncertain significance Single submitter
- TRAF3IP1 p.Ile590Val Uncertain significance Single submitter
- TRAF3IP1 p.Ile671Phe Uncertain significance Single submitter
-
TRAF3IP1 p.Ile70Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Ile95Thr Uncertain significance Single submitter
- TRAF3IP1 p.Leu108Phe Uncertain significance Single submitter
- TRAF3IP1 p.Leu116Phe Uncertain significance Single submitter
- TRAF3IP1 p.Leu142Val Uncertain significance Single submitter
- TRAF3IP1 p.Leu262Pro Uncertain significance Single submitter
- TRAF3IP1 p.Leu366Ser Uncertain significance Single submitter
- TRAF3IP1 p.Leu406Arg Uncertain significance Single submitter
- TRAF3IP1 p.Leu593Pro Uncertain significance Single submitter
- TRAF3IP1 p.Leu653Val Uncertain significance Single submitter
- TRAF3IP1 p.Lys15Arg Uncertain significance Single submitter
- TRAF3IP1 p.Lys199Glu Uncertain significance Single submitter
-
TRAF3IP1 p.Lys252Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Lys257Gln Uncertain significance Single submitter
- TRAF3IP1 p.Lys304Arg Uncertain significance Single submitter
-
TRAF3IP1 p.Lys305Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Lys314Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Lys350Arg Uncertain significance Single submitter
- TRAF3IP1 p.Lys364Arg Uncertain significance Single submitter
- TRAF3IP1 p.Lys542Glu Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
-
TRAF3IP1 p.Ala97Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Arg126Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRAF3IP1 p.Arg239Trp Benign Multiple submitters
-
TRAF3IP1 p.Arg267Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Arg269Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Arg271Gln
Uncertain significance
Multiple submitters
Senior-Loken syndrome 9
-
TRAF3IP1 p.Arg271Trp
Uncertain significance
Multiple submitters
Senior-Loken syndrome 9
-
TRAF3IP1 p.Arg470Trp
Uncertain significance
Multiple submitters
Senior-Loken syndrome 9
-
TRAF3IP1 p.Arg473Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRAF3IP1 p.Lys663Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRAF3IP1 p.Ala124Val Uncertain significance Single submitter
-
TRAF3IP1 p.Arg103Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Arg139Trp Uncertain significance Single submitter
-
TRAF3IP1 p.Arg18Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Arg19Met Uncertain significance Single submitter
- TRAF3IP1 p.Arg19Ser Uncertain significance Single submitter
- TRAF3IP1 p.Arg223Trp Uncertain significance Single submitter
- TRAF3IP1 p.Arg245Cys Uncertain significance Single submitter
- TRAF3IP1 p.Arg460Gln Uncertain significance Single submitter
- TRAF3IP1 p.Arg8Trp Uncertain significance Single submitter
-
TRAF3IP1 p.Asp659His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Gln10Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Gln660Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRAF3IP1 p.Glu546Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TRAF3IP1 p.Gly601Ala Uncertain significance Single submitter
- TRAF3IP1 p.Ile544Val Uncertain significance Single submitter
- TRAF3IP1 p.Lys673Glu Uncertain significance Single submitter
- TRAF3IP1 p.Met58Thr Uncertain significance Single submitter
- TRAF3IP1 p.Met614Ile Uncertain significance Single submitter
- TRAF3IP1 p.Pro30Leu Uncertain significance Single submitter
- TRAF3IP1 p.Pro469Thr Uncertain significance Single submitter
- TRAF3IP1 p.Ser121Thr Uncertain significance Single submitter
- TRAF3IP1 p.Ser337Cys Uncertain significance Single submitter
- TRAF3IP1 p.Ser501Cys Uncertain significance Single submitter
- TRAF3IP1 p.Tyr551Asp Uncertain significance Single submitter
- TRAF3IP1 p.Tyr606Cys Uncertain significance Single submitter
- TRAF3IP1 p.Val541Met Uncertain significance Single submitter
- TRAF3IP1 p.Val79Leu Uncertain significance Single submitter
All TRAF3IP1 variants
Pathogenic 21
- p.Ala124fs Single submitter
- p.Arg155Ter Single submitter Senior-Loken syndrome 9
- p.Arg230Ter Single submitter
- p.Arg267Ter Single submitter
- p.Asp266fs Single submitter
- p.Glu175fs Single submitter
- p.Glu187Ter Single submitter
- p.Glu258fs Single submitter
- p.Glu268Ter Single submitter
- p.Gly235fs Single submitter
- p.Gly387Ter Single submitter
- p.Ile361fs Single submitter
- p.Leu116fs Single submitter
- p.Lys252fs Single submitter
- p.Lys257fs Single submitter
- p.Lys259fs Single submitter
- p.Pro466fs Single submitter
- p.Ser308_Ser309insTer Single submitter
- c.1575+6T>G No assertion criteria Senior-Loken syndrome 9
- p.Ile17Met No assertion criteria Senior-Loken syndrome 9
- p.Val125Met No assertion criteria Senior-Loken syndrome 9
Pathogenic/Likely pathogenic 1
- p.Gln184fs Multiple submitters Senior-Loken syndrome 9
Likely pathogenic 8
- c.124-5T>G Single submitter
- c.1261+2T>A Single submitter
- c.1283-2A>T Single submitter
- c.192+1G>C Single submitter
- c.915+1G>A Single submitter
- c.916-2A>G Single submitter
- c.987+1G>A Single submitter
- p.Ala220fs Single submitter
Conflicting classifications of pathogenicity 8
- p.Ala479Val Single submitter Inborn genetic diseases ⚠
- p.Arg192Ser Single submitter Inborn genetic diseases ⚠
- p.Arg230Gln Single submitter Inborn genetic diseases ⚠
- p.Arg237Lys Single submitter Inborn genetic diseases ⚠
- p.Arg407Trp Single submitter Inborn genetic diseases ⚠
- p.Gly209Arg Single submitter Inborn genetic diseases ⚠
- p.Ser146Pro Single submitter Inborn genetic diseases ⚠
- p.Thr424Pro Single submitter Inborn genetic diseases ⚠
Benign 27
- c.1159+76A>G Multiple submitters
- c.123+154G>A Multiple submitters
- c.1261+27C>A Multiple submitters
- c.1262-330A>G Multiple submitters
- c.1282+163A>T Multiple submitters
- c.1911-150A>G Multiple submitters
- c.192+94T>C Multiple submitters
- c.193-54A>G Multiple submitters
- c.355-170C>T Multiple submitters
- c.988-143T>C Multiple submitters
- p.Arg239Trp Multiple submitters ⚠
- p.Asn228Ser Multiple submitters
- p.Met620Leu Multiple submitters
- p.Pro302= Multiple submitters
- p.Thr416Ser Multiple submitters
- c.1063+291T>C Single submitter
- c.1063+56_1063+57dup Single submitter
- c.1063+57dup Single submitter
- c.1159+115G>A Single submitter
- c.1160-131T>C Single submitter
- c.124-215T>C Single submitter
- c.1283-195C>T Single submitter
- c.1451+108A>G Single submitter
- c.1910+4G>A Single submitter
- c.1910+8dup Single submitter
- c.916-6del Single submitter
- c.988-179C>T Single submitter
Benign/Likely benign 1
- p.Asp400Ala Multiple submitters
Likely benign 178
- p.Ala642= Multiple submitters
- c.1063+16T>A Single submitter
- c.1063+18T>C Single submitter
- c.1063+19A>G Single submitter
- c.1063+9A>G Single submitter
- c.1064-19G>C Single submitter
- c.1159+14A>G Single submitter
- c.1160-14C>T Single submitter
- c.123+16C>A Single submitter
- c.124-20C>A Single submitter
- c.124-6T>C Single submitter
- c.1261+20G>T Single submitter
- c.1262-11T>C Single submitter
- c.1262-12C>G Single submitter
- c.1262-13G>A Single submitter
- c.1262-17A>G Single submitter
- c.1262-6del Single submitter
- c.1282+12C>T Single submitter
- c.1282+9T>C Single submitter
- c.1283-10A>G Single submitter
- c.1283-15T>C Single submitter
- c.1367+18C>T Single submitter
- c.1367+19C>T Single submitter
- c.1367+20C>G Single submitter
- c.1368-15A>G Single submitter
- c.1451+14A>G Single submitter
- c.1451+17A>G Single submitter
- c.1451+7C>G Single submitter
- c.1451+9G>C Single submitter
- c.1452-12_1452-10del Single submitter
- c.1452-12C>A Single submitter
- c.1452-16A>G Single submitter
- c.1452-6A>G Single submitter
- c.1575+17A>G Single submitter
- c.1575+18T>C Single submitter
- c.1575+20_1575+22del Single submitter
- c.1576-14C>T Single submitter
- c.1576-4T>C Single submitter
- c.1613-20A>T Single submitter
- c.1613-6C>G Single submitter
- c.1613-8T>C Single submitter
- c.1689+15T>G Single submitter
- c.1689+18A>G Single submitter
- c.1689+19T>C Single submitter
- c.1690-14C>G Single submitter
- c.1690-18A>C Single submitter
- c.1690-20C>T Single submitter
- c.1690-5T>G Single submitter
- c.1910+12T>C Single submitter
- c.1910+13A>C Single submitter
- c.1910+14A>G Single submitter
- c.1910+15T>G Single submitter
- c.1910+20A>C Single submitter
- c.1910+20A>G Single submitter
- c.1910+48_1910+135del Single submitter
- c.1910+48_1910+179del Single submitter
- c.1910+7G>T Single submitter
- c.1910+9T>A Single submitter
- c.1911-5C>T Single submitter
- c.192+11G>A Single submitter
- c.192+15G>A Single submitter
- c.192+16G>A Single submitter
- c.192+19T>C Single submitter
- c.192+7T>C Single submitter
- c.193-16A>C Single submitter
- c.354+13T>A Single submitter
- c.354+20A>G Single submitter
- c.355-6G>A Single submitter
- c.498+10A>G Single submitter
- c.498+16C>T Single submitter
- c.499-4G>A Single submitter
- c.915+10T>C Single submitter
- c.915+13T>G Single submitter
- c.916-16T>G Single submitter
- c.916-5A>G Single submitter
- c.916-6T>A Single submitter
- c.988-7C>A Single submitter
- p.Ala124= Single submitter
- p.Ala130= Single submitter
- p.Ala204= Single submitter
- p.Ala3= Single submitter
- p.Ala326= Single submitter
- p.Ala363= Single submitter
- p.Ala479= Single submitter
- p.Ala514= Single submitter
- p.Ala597= Single submitter
- p.Ala613= Single submitter
- p.Ala648= Single submitter
- p.Ala651= Single submitter
- p.Ala76= Single submitter
- p.Ala97= Single submitter
- p.Arg139= Single submitter
- p.Arg155= Single submitter
- p.Arg182= Single submitter
- p.Arg19= Single submitter
- p.Arg213= Single submitter
- p.Arg230= Single submitter
- p.Arg267= Single submitter
- p.Arg269= Single submitter
- p.Arg33= Single submitter
- p.Arg347= Single submitter
- p.Arg348= Single submitter
- p.Arg465= Single submitter
- p.Arg587= Single submitter
- p.Arg626= Single submitter
- p.Arg94= Single submitter
- p.Asn105= Single submitter
- p.Asn284= Single submitter
- p.Asn62= Single submitter
- p.Asp227= Single submitter
- p.Asp266= Single submitter
- p.Asp292= Single submitter
- p.Asp610= Single submitter
- p.Glu100= Single submitter
- p.Glu186= Single submitter
- p.Glu260= Single submitter
- p.Glu376= Single submitter
- p.Glu450= Single submitter
- p.Glu522= Single submitter
- p.Glu532= Single submitter
- p.Glu534= Single submitter
- p.Glu535= Single submitter
- p.Glu630= Single submitter
- p.Gly256= Single submitter
- p.Gly387= Single submitter
- p.Gly462= Single submitter
- p.Gly539= Single submitter
- p.His36= Single submitter
- p.His499Gln Single submitter Inborn genetic diseases
- p.Ile38= Single submitter
- p.Ile39= Single submitter
- p.Ile544= Single submitter
- p.Ile578= Single submitter
- p.Ile607= Single submitter
- p.Leu142= Single submitter
- p.Leu149= Single submitter
- p.Leu188= Single submitter
- p.Leu262= Single submitter
- p.Leu340= Single submitter
- p.Leu35= Single submitter
- p.Leu593= Single submitter
- p.Leu650= Single submitter
- p.Leu656= Single submitter
- p.Lys189= Single submitter
- p.Lys199= Single submitter
- p.Lys205= Single submitter
- p.Lys257= Single submitter
- p.Lys338= Single submitter
- p.Lys346= Single submitter
- p.Lys418= Single submitter
- p.Lys438= Single submitter
- p.Lys543= Single submitter
- p.Lys576= Single submitter
- p.Lys59= Single submitter
- p.Lys673= Single submitter
- p.Lys75= Single submitter
- p.Pro30= Single submitter
- p.Pro415= Single submitter
- p.Pro469= Single submitter
- p.Pro558= Single submitter
- p.Ser141= Single submitter
- p.Ser306= Single submitter
- p.Ser333= Single submitter
- p.Ser439= Single submitter
- p.Ser487= Single submitter
- p.Ser498= Single submitter
- p.Ser521= Single submitter
- p.Ser580= Single submitter
- p.Ser589= Single submitter
- p.Ser689= Single submitter
- p.Ser71= Single submitter
- p.Thr334= Single submitter
- p.Thr444= Single submitter
- p.Thr547= Single submitter
- p.Thr588= Single submitter
- p.Tyr34= Single submitter
- p.Val154= Single submitter
- p.Val6= Single submitter
Uncertain significance 266
- c.1261+4A>G Multiple submitters
- p.Ala431Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala571Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala651Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala97Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg126Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg127Ser Multiple submitters
- p.Arg192His Multiple submitters Inborn genetic diseases ⚠
- p.Arg213Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg245His Multiple submitters Inborn genetic diseases ⚠
- p.Arg267Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg269Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg271Gln Multiple submitters Senior-Loken syndrome 9 ⚠
- p.Arg271Trp Multiple submitters Senior-Loken syndrome 9 ⚠
- p.Arg297Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg348Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg470Trp Multiple submitters Senior-Loken syndrome 9 ⚠
- p.Arg473Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg565Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn500Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp640Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp65His Multiple submitters Inborn genetic diseases ⚠
- p.Gln679Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu229Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu244Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu254Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu497Lys Multiple submitters ⚠
- p.Glu564Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu630Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly255Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly285Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile455Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys174Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys205Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys663Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met82Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro560Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro87Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser518Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ser557Thr Multiple submitters Inborn genetic diseases ⚠
- p.Thr381Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr382Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr416Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr547Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr588Met Multiple submitters Senior-Loken syndrome 9 ⚠
- p.Tyr551Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val579Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val611Met Multiple submitters Inborn genetic diseases ⚠
- c.1064-10T>A Single submitter
- c.1159+4A>T Single submitter
- c.1160-9T>G Single submitter
- c.1282+4A>G Single submitter
- c.1575+4A>G Single submitter
- c.1613-3C>T Single submitter
- c.1689+3A>G Single submitter
- c.1689+4A>G Single submitter
- c.1910+3G>A Single submitter
- c.1910+4G>T Single submitter
- c.1910+5G>A Single submitter
- c.1910+8G>T Single submitter
- c.1911-5C>G Single submitter
- c.355-17T>G Single submitter
- c.498+3G>A Single submitter
- c.916-4A>G Single submitter
- c.987+23_987+24insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAAAATAACTTTT Single submitter
- c.988-3A>G Single submitter
- p.198DK[1] Single submitter
- p.Ala124Val Single submitter ⚠
- p.Ala12Ser Single submitter ⚠
- p.Ala130Asp Single submitter ⚠
- p.Ala171Thr Single submitter ⚠
- p.Ala222Gly Single submitter Inborn genetic diseases ⚠
- p.Ala307Val Single submitter ⚠
- p.Ala391Thr Single submitter ⚠
- p.Ala3Gly Single submitter ⚠
- p.Ala427= Single submitter
- p.Ala427Gly Single submitter ⚠
- p.Ala528Thr Single submitter ⚠
- p.Ala56Thr Single submitter ⚠
- p.Ala571Gly Single submitter ⚠
- p.Ala597Val Single submitter ⚠
- p.Ala651Val Single submitter ⚠
- p.Ala68Thr Single submitter ⚠
- p.Arg103Thr Single submitter Inborn genetic diseases ⚠
- p.Arg139Trp Single submitter ⚠
- p.Arg145Ile Single submitter ⚠
- p.Arg145Ser Single submitter ⚠
- p.Arg182Gln Single submitter ⚠
- p.Arg18Trp Single submitter Inborn genetic diseases ⚠
- p.Arg192Leu Single submitter ⚠
- p.Arg19Met Single submitter ⚠
- p.Arg19Ser Single submitter ⚠
- p.Arg217Thr Single submitter ⚠
- p.Arg223Trp Single submitter ⚠
- p.Arg237Gly Single submitter Inborn genetic diseases ⚠
- p.Arg245Cys Single submitter ⚠
- p.Arg277Ser Single submitter ⚠
- p.Arg279Gly Single submitter Inborn genetic diseases ⚠
- p.Arg280Gln Single submitter ⚠
- p.Arg280Trp Single submitter ⚠
- p.Arg293Gly Single submitter Inborn genetic diseases ⚠
- p.Arg347Gln Single submitter ⚠
- p.Arg348Gln Single submitter ⚠
- p.Arg457Lys Single submitter ⚠
- p.Arg460Gln Single submitter ⚠
- p.Arg470Gln Single submitter ⚠
- p.Arg484Lys Single submitter ⚠
- p.Arg690Lys Single submitter ⚠
- p.Arg691fs Single submitter
- p.Arg8Gln Single submitter ⚠
- p.Arg8Trp Single submitter ⚠
- p.Asn117His Single submitter Inborn genetic diseases ⚠
- p.Asn378Thr Single submitter ⚠
- p.Asn402Ser Single submitter ⚠
- p.Asn449Lys Single submitter ⚠
- p.Asn493Asp Single submitter ⚠
- p.Asn670Thr Single submitter Inborn genetic diseases ⚠
- p.Asn674Asp Single submitter ⚠
- p.Asp123Glu Single submitter ⚠
- p.Asp200Ala Single submitter Inborn genetic diseases ⚠
- p.Asp264Asn Single submitter Inborn genetic diseases ⚠
- p.Asp270Asn Single submitter ⚠
- p.Asp272Asn Single submitter ⚠
- p.Asp292Val Single submitter ⚠
- p.Asp430His Single submitter Inborn genetic diseases ⚠
- p.Asp507Val Single submitter Inborn genetic diseases ⚠
- p.Asp659His Single submitter Inborn genetic diseases ⚠
- p.Asp67Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys408Arg Single submitter ⚠
- p.Gln109Arg Single submitter ⚠
- p.Gln109Pro Single submitter ⚠
- p.Gln10Glu Single submitter Inborn genetic diseases ⚠
- p.Gln231Arg Single submitter ⚠
- p.Gln412His Single submitter Inborn genetic diseases ⚠
- p.Gln412Pro Single submitter ⚠
- p.Gln419Lys Single submitter
- p.Gln608Arg Single submitter
- p.Gln619Arg Single submitter ⚠
- p.Gln660Arg Single submitter Inborn genetic diseases ⚠
- p.Glu106Lys Single submitter
- p.Glu157Lys Single submitter ⚠
- p.Glu158del Single submitter
- p.Glu175Asp Single submitter ⚠
- p.Glu190Lys Single submitter ⚠
- p.Glu196Gly Single submitter ⚠
- p.Glu216Gly Single submitter ⚠
- p.Glu238Gly Single submitter ⚠
- p.Glu244Lys Single submitter ⚠
- p.Glu248Lys Single submitter Inborn genetic diseases ⚠
- p.Glu268_Arg269delinsAspCys Single submitter
- p.Glu286Asp Single submitter ⚠
- p.Glu303Gly Single submitter ⚠
- p.Glu311Lys Single submitter Inborn genetic diseases ⚠
- p.Glu327Gly Single submitter ⚠
- p.Glu327Lys Single submitter ⚠
- p.Glu409Asp Single submitter Inborn genetic diseases ⚠
- p.Glu409Lys Single submitter Inborn genetic diseases ⚠
- p.Glu546Lys Single submitter Inborn genetic diseases ⚠
- p.Glu617Gln Single submitter ⚠
- p.Glu624Asp Single submitter
- p.Glu624Lys Single submitter
- p.Glu654Ala Single submitter Inborn genetic diseases
- p.Gly131Ala Single submitter ⚠
- p.Gly255Arg Single submitter ⚠
- p.Gly255Val Single submitter ⚠
- p.Gly310Arg Single submitter Inborn genetic diseases ⚠
- p.Gly421Asp Single submitter Inborn genetic diseases ⚠
- p.Gly429Glu Single submitter ⚠
- p.Gly488Ser Single submitter ⚠
- p.Gly51Asp Single submitter Senior-Loken syndrome 9
- p.Gly601Ala Single submitter ⚠
- p.Gly98Ala Single submitter ⚠
- p.Gly98Val Single submitter ⚠
- p.His162Arg Single submitter Inborn genetic diseases ⚠
- p.His162Pro Single submitter ⚠
- p.His212Arg Single submitter ⚠
- p.His212Gln Single submitter ⚠
- p.His299Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile17Val Single submitter Inborn genetic diseases ⚠
- p.Ile369Val Single submitter ⚠
- p.Ile373Met Single submitter ⚠
- p.Ile39del Single submitter
- p.Ile495Val Single submitter ⚠
- p.Ile544Val Single submitter ⚠
- p.Ile583Met Single submitter ⚠
- p.Ile583Val Single submitter ⚠
- p.Ile590Val Single submitter ⚠
- p.Ile671Phe Single submitter ⚠
- p.Ile678fs Single submitter
- p.Ile70Asn Single submitter Inborn genetic diseases ⚠
- p.Ile95Thr Single submitter ⚠
- p.Leu108Phe Single submitter ⚠
- p.Leu116Phe Single submitter ⚠
- p.Leu142Val Single submitter ⚠
- p.Leu262Pro Single submitter ⚠
- p.Leu366Ser Single submitter ⚠
- p.Leu406Arg Single submitter ⚠
- p.Leu593Pro Single submitter ⚠
- p.Leu653Val Single submitter ⚠
- p.Lys15Arg Single submitter ⚠
- p.Lys199Glu Single submitter ⚠
- p.Lys252Asn Single submitter Inborn genetic diseases ⚠
- p.Lys257Gln Single submitter ⚠
- p.Lys304Arg Single submitter ⚠
- p.Lys305Gln Single submitter Inborn genetic diseases ⚠
- p.Lys314Asn Single submitter Inborn genetic diseases ⚠
- p.Lys350Arg Single submitter ⚠
- p.Lys364Arg Single submitter ⚠
- p.Lys542Glu Single submitter ⚠
- p.Lys553Arg Single submitter ⚠
- p.Lys574Thr Single submitter ⚠
- p.Lys658Glu Single submitter ⚠
- p.Lys673Glu Single submitter ⚠
- p.Met1Thr Single submitter
- p.Met49Leu Single submitter ⚠
- p.Met525Leu Single submitter ⚠
- p.Met58Thr Single submitter ⚠
- p.Met604Val Single submitter ⚠
- p.Met614Ile Single submitter ⚠
- p.Met614Thr Single submitter ⚠
- p.Pro302Leu Single submitter ⚠
- p.Pro302Ser Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro448Leu Single submitter ⚠
- p.Pro469Thr Single submitter ⚠
- p.Ser120Ala Single submitter ⚠
- p.Ser121Thr Single submitter ⚠
- p.Ser141Leu Single submitter Inborn genetic diseases ⚠
- p.Ser288Phe Single submitter ⚠
- p.Ser317Pro Single submitter ⚠
- p.Ser324Phe Single submitter ⚠
- p.Ser324Pro Single submitter ⚠
- p.Ser337Cys Single submitter ⚠
- p.Ser399Leu Single submitter ⚠
- p.Ser403Leu Single submitter ⚠
- p.Ser405Gly Single submitter ⚠
- p.Ser492Pro Single submitter Inborn genetic diseases ⚠
- p.Ser501Cys Single submitter ⚠
- p.Ser521Ala Single submitter ⚠
- p.Ser623Arg Single submitter ⚠
- p.Ser684Gly Single submitter ⚠
- p.Ser71Thr Single submitter ⚠
- p.Thr23Ile Single submitter Inborn genetic diseases ⚠
- p.Thr344Ala Single submitter ⚠
- p.Thr383Ala Single submitter ⚠
- p.Thr396Ala Single submitter ⚠
- p.Thr40Ala Single submitter ⚠
- p.Thr444Ser Single submitter ⚠
- p.Thr639Pro Single submitter Inborn genetic diseases ⚠
- p.Thr688_Ser689insTer Single submitter
- p.Thr9Arg Single submitter ⚠
- p.Thr9Met Single submitter ⚠
- p.Tyr34Cys Single submitter ⚠
- p.Tyr551Asp Single submitter ⚠
- p.Tyr606Cys Single submitter ⚠
- p.Val125Ala Single submitter Senior-Loken syndrome 9 ⚠
- p.Val161Ile Single submitter Inborn genetic diseases ⚠
- p.Val491Ile Single submitter ⚠
- p.Val526Ile Single submitter ⚠
- p.Val541Met Single submitter ⚠
- p.Val643Leu Single submitter ⚠
- p.Val667Leu Single submitter Inborn genetic diseases ⚠
- p.Val79Leu Single submitter ⚠
- p.Lys295_Asn296delinsAsnThr No assertion criteria
- p.Met1Ile No assertion criteria
- p.Ser362Ter No assertion criteria