KIF20A — 556 ClinVar variants
All ClinVar germline KIF20A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 272 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 16 Benign · 1 Benign/Likely benign · 188 Likely benign · 347 Uncertain significance
Full KIF20A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 272
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 236
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 236
- KIF20A p.Ala106Ser Uncertain significance Multiple submitters
- KIF20A p.Ala761Thr Uncertain significance Multiple submitters
- KIF20A p.Arg218Gln Uncertain significance Multiple submitters
- KIF20A p.Arg250Gln Uncertain significance Multiple submitters
- KIF20A p.Arg282Gln Uncertain significance Multiple submitters
- KIF20A p.Arg298His Uncertain significance Multiple submitters
- KIF20A p.Arg324Cys Uncertain significance Multiple submitters
- KIF20A p.Arg324His Uncertain significance Multiple submitters
- KIF20A p.Arg36Cys Uncertain significance Multiple submitters
- KIF20A p.Arg379His Uncertain significance Multiple submitters
- KIF20A p.Arg414Cys Uncertain significance Multiple submitters
- KIF20A p.Arg414Ser Uncertain significance Multiple submitters
- KIF20A p.Arg477His Uncertain significance Multiple submitters
- KIF20A p.Arg603Trp Uncertain significance Multiple submitters
- KIF20A p.Arg675Gln Uncertain significance Multiple submitters
- KIF20A p.Arg676Gln Uncertain significance Multiple submitters
- KIF20A p.Arg804Gln Uncertain significance Multiple submitters
- KIF20A p.Arg81Gln Uncertain significance Multiple submitters
- KIF20A p.Arg829Cys Uncertain significance Multiple submitters
- KIF20A p.Arg871Gln Uncertain significance Multiple submitters
- KIF20A p.Arg877Cys Uncertain significance Multiple submitters
- KIF20A p.Asn110Ser Uncertain significance Multiple submitters
- KIF20A p.Asn189Ser Uncertain significance Multiple submitters
- KIF20A p.Asn345Lys Uncertain significance Multiple submitters
- KIF20A p.Asn594Asp Uncertain significance Multiple submitters
- KIF20A p.Asn740Thr Uncertain significance Multiple submitters
- KIF20A p.Asp200His Uncertain significance Multiple submitters
- KIF20A p.Asp396Ala Uncertain significance Multiple submitters
- KIF20A p.Asp779Glu Uncertain significance Multiple submitters
- KIF20A p.Gln233Glu Uncertain significance Multiple submitters
- KIF20A p.Gln446Pro Uncertain significance Multiple submitters
- KIF20A p.Gln642Glu Uncertain significance Multiple submitters
- KIF20A p.Glu236Lys Uncertain significance Multiple submitters
- KIF20A p.Glu248Lys Uncertain significance Multiple submitters
- KIF20A p.Glu248Val Uncertain significance Multiple submitters
- KIF20A p.Gly230Glu Uncertain significance Multiple submitters
- KIF20A p.Gly231Ser Uncertain significance Multiple submitters
- KIF20A p.His509Arg Uncertain significance Multiple submitters
- KIF20A p.His610Arg Uncertain significance Multiple submitters
- KIF20A p.Ile524Thr Uncertain significance Multiple submitters
- KIF20A p.Leu434Val Uncertain significance Multiple submitters
- KIF20A p.Leu545Val Uncertain significance Multiple submitters
- KIF20A p.Leu751Phe Uncertain significance Multiple submitters
- KIF20A p.Leu801Val Uncertain significance Multiple submitters
- KIF20A p.Met144Thr Uncertain significance Multiple submitters
- KIF20A p.Pro129Ser Uncertain significance Multiple submitters
- KIF20A p.Pro294Leu Uncertain significance Multiple submitters
- KIF20A p.Pro319Leu Uncertain significance Multiple submitters
- KIF20A p.Pro533Leu Uncertain significance Multiple submitters
- KIF20A p.Pro855Thr Uncertain significance Multiple submitters
- KIF20A p.Pro8Leu Uncertain significance Multiple submitters
- KIF20A p.Ser532Phe Uncertain significance Multiple submitters
- KIF20A p.Ser635Ile Uncertain significance Multiple submitters
- KIF20A p.Ser883Tyr Uncertain significance Multiple submitters
- KIF20A p.Thr158Ser Uncertain significance Multiple submitters
- KIF20A p.Thr169Met Uncertain significance Multiple submitters
- KIF20A p.Thr48Ala Uncertain significance Multiple submitters
- KIF20A p.Tyr159Asn Uncertain significance Multiple submitters
- KIF20A p.Val484Met Uncertain significance Multiple submitters
- KIF20A p.Val508Met Uncertain significance Multiple submitters
- KIF20A p.Val730Met Uncertain significance Multiple submitters
- KIF20A p.Ala134Pro Uncertain significance Single submitter
- KIF20A p.Ala134Thr Uncertain significance Single submitter
- KIF20A p.Ala185Val Uncertain significance Single submitter
- KIF20A p.Ala295Gly Uncertain significance Single submitter
- KIF20A p.Ala539Pro Uncertain significance Single submitter
- KIF20A p.Ala664Val Uncertain significance Single submitter
- KIF20A p.Ala681Thr Uncertain significance Single submitter
- KIF20A p.Ala723Ser Uncertain significance Single submitter
- KIF20A p.Ala768Gly Uncertain significance Single submitter
- KIF20A p.Ala774Gly Uncertain significance Single submitter
- KIF20A p.Arg112Gln Uncertain significance Single submitter
-
KIF20A p.Arg182Trp
Uncertain significance
Single submitter
cardiomyopathy, familial restrictive, 6
- KIF20A p.Arg250Trp Uncertain significance Single submitter
- KIF20A p.Arg298Cys Uncertain significance Single submitter
- KIF20A p.Arg330Trp Uncertain significance Single submitter
- KIF20A p.Arg363His Uncertain significance Single submitter
- KIF20A p.Arg379Cys Uncertain significance Single submitter
- KIF20A p.Arg414His Uncertain significance Single submitter
- KIF20A p.Arg423Gln Uncertain significance Single submitter
- KIF20A p.Arg423Trp Uncertain significance Single submitter
- KIF20A p.Arg445Cys Uncertain significance Single submitter
- KIF20A p.Arg460Cys Uncertain significance Single submitter
- KIF20A p.Arg460His Uncertain significance Single submitter
- KIF20A p.Arg466Gln Uncertain significance Single submitter
- KIF20A p.Arg603Gln Uncertain significance Single submitter
- KIF20A p.Arg644Gln Uncertain significance Single submitter
- KIF20A p.Arg772Cys Uncertain significance Single submitter
- KIF20A p.Arg772His Uncertain significance Single submitter
- KIF20A p.Arg856Gln Uncertain significance Single submitter
- KIF20A p.Arg871Trp Uncertain significance Single submitter
- KIF20A p.Arg874Cys Uncertain significance Single submitter
- KIF20A p.Arg874His Uncertain significance Single submitter
- KIF20A p.Arg876Gln Uncertain significance Single submitter
- KIF20A p.Arg877His Uncertain significance Single submitter
- KIF20A p.Arg89His Uncertain significance Single submitter
- KIF20A p.Asn163His Uncertain significance Single submitter
- KIF20A p.Asn296Lys Uncertain significance Single submitter
- KIF20A p.Asn365His Uncertain significance Single submitter
- KIF20A p.Asp147Asn Uncertain significance Single submitter
- KIF20A p.Asp213Glu Uncertain significance Single submitter
- KIF20A p.Asp277Asn Uncertain significance Single submitter
- KIF20A p.Asp287Glu Uncertain significance Single submitter
- KIF20A p.Asp30Glu Uncertain significance Single submitter
- KIF20A p.Asp351Glu Uncertain significance Single submitter
- KIF20A p.Asp396Asn Uncertain significance Single submitter
- KIF20A p.Asp417Tyr Uncertain significance Single submitter
- KIF20A p.Asp547Glu Uncertain significance Single submitter
- KIF20A p.Cys407Tyr Uncertain significance Single submitter
- KIF20A p.Cys415Arg Uncertain significance Single submitter
- KIF20A p.Cys440Tyr Uncertain significance Single submitter
- KIF20A p.Cys607Tyr Uncertain significance Single submitter
- KIF20A p.Cys699Arg Uncertain significance Single submitter
- KIF20A p.Cys860Arg Uncertain significance Single submitter
- KIF20A p.Gln125Lys Uncertain significance Single submitter
- KIF20A p.Gln133Arg Uncertain significance Single submitter
- KIF20A p.Gln350Arg Uncertain significance Single submitter
- KIF20A p.Gln418Arg Uncertain significance Single submitter
- KIF20A p.Gln667Lys Uncertain significance Single submitter
- KIF20A p.Gln690His Uncertain significance Single submitter
- KIF20A p.Gln749Glu Uncertain significance Single submitter
- KIF20A p.Glu111Gly Uncertain significance Single submitter
- KIF20A p.Glu333Lys Uncertain significance Single submitter
- KIF20A p.Glu51Gly Uncertain significance Single submitter
- KIF20A p.Glu526Lys Uncertain significance Single submitter
- KIF20A p.Glu526Val Uncertain significance Single submitter
- KIF20A p.Glu561Lys Uncertain significance Single submitter
- KIF20A p.Glu604Gln Uncertain significance Single submitter
- KIF20A p.Glu631Asp Uncertain significance Single submitter
- KIF20A p.Glu640Gly Uncertain significance Single submitter
- KIF20A p.Glu643Asp Uncertain significance Single submitter
- KIF20A p.Glu649Lys Uncertain significance Single submitter
- KIF20A p.Glu702Lys Uncertain significance Single submitter
- KIF20A p.Glu78Lys Uncertain significance Single submitter
- KIF20A p.Gly177Arg Uncertain significance Single submitter
- KIF20A p.Gly193Val Uncertain significance Single submitter
- KIF20A p.Gly393Ala Uncertain significance Single submitter
- KIF20A p.Gly421Asp Uncertain significance Single submitter
- KIF20A p.Gly476Asp Uncertain significance Single submitter
- KIF20A p.Gly4Arg Uncertain significance Single submitter
- KIF20A p.Gly752Ser Uncertain significance Single submitter
- KIF20A p.Gly769Arg Uncertain significance Single submitter
- KIF20A p.Gly831Ala Uncertain significance Single submitter
- KIF20A p.Gly831Asp Uncertain significance Single submitter
- KIF20A p.His196Asn Uncertain significance Single submitter
- KIF20A p.His372Arg Uncertain significance Single submitter
- KIF20A p.His509Tyr Uncertain significance Single submitter
- KIF20A p.His521Arg Uncertain significance Single submitter
- KIF20A p.His521Tyr Uncertain significance Single submitter
- KIF20A p.His610Gln Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- KIF20A p.Arg363Cys Uncertain significance Multiple submitters
- KIF20A p.Arg676Trp Uncertain significance Multiple submitters
- KIF20A p.Glu403Lys Uncertain significance Multiple submitters
- KIF20A p.Glu604Lys Uncertain significance Multiple submitters
- KIF20A p.Ile126Asn Uncertain significance Multiple submitters
- KIF20A p.Leu317Phe Uncertain significance Multiple submitters
- KIF20A p.Met570Ile Uncertain significance Multiple submitters
- KIF20A p.Ser190Asn Uncertain significance Multiple submitters
- KIF20A p.Ala100Val Uncertain significance Single submitter
- KIF20A p.Arg112Gly Uncertain significance Single submitter
- KIF20A p.Arg112Trp Uncertain significance Single submitter
- KIF20A p.Arg451Trp Uncertain significance Single submitter
- KIF20A p.Arg675Trp Uncertain significance Single submitter
- KIF20A p.Asn447Asp Uncertain significance Single submitter
- KIF20A p.Asp147Tyr Uncertain significance Single submitter
- KIF20A p.Asp492Asn Uncertain significance Single submitter
- KIF20A p.Cys332Tyr Uncertain significance Single submitter
- KIF20A p.Gln506Arg Uncertain significance Single submitter
- KIF20A p.Gly263Arg Uncertain significance Single submitter
- KIF20A p.His711Pro Uncertain significance Single submitter
- KIF20A p.Leu495Ile Uncertain significance Single submitter
- KIF20A p.Leu651Ile Uncertain significance Single submitter
- KIF20A p.Leu873Pro Uncertain significance Single submitter
- KIF20A p.Leu96Phe Uncertain significance Single submitter
- KIF20A p.Met600Thr Uncertain significance Single submitter
- KIF20A p.Met796Thr Uncertain significance Single submitter
- KIF20A p.Phe299Leu Uncertain significance Single submitter
- KIF20A p.Pro458Ala Uncertain significance Single submitter
- KIF20A p.Ser104Cys Uncertain significance Single submitter
- KIF20A p.Ser556Pro Uncertain significance Single submitter
- KIF20A p.Thr634Pro Uncertain significance Single submitter
- KIF20A p.Thr95Ile Uncertain significance Single submitter
- KIF20A p.Tyr340Cys Uncertain significance Single submitter
- KIF20A p.Val341Ala Uncertain significance Single submitter
All KIF20A variants
Pathogenic 1
- p.Tyr637fs No assertion criteria cardiomyopathy, familial restrictive, 6
Likely pathogenic 1
- p.Arg475Ter Single submitter cardiomyopathy, familial restrictive, 6
Conflicting classifications of pathogenicity 2
- p.Ile728Thr Single submitter ⚠
- p.Met513Val Single submitter ⚠
Benign 16
- p.Glu63Lys Multiple submitters
- p.Pro839Leu Multiple submitters
- c.1028-17del Single submitter
- c.1139+13dup Single submitter
- c.1140-4C>T Single submitter
- c.1519-9del Single submitter
- c.1519-9dup Single submitter
- c.2217+11C>T Single submitter
- c.514+19C>T Single submitter
- c.702+3A>G Single submitter
- p.Ala684= Single submitter
- p.Cys332= Single submitter
- p.Lys827Gln Single submitter
- p.Pro294= Single submitter
- p.Pro8= Single submitter
- p.Ser104= Single submitter
Benign/Likely benign 1
- p.Asp731= Multiple submitters
Likely benign 188
- c.1519-16T>A Multiple submitters
- p.Leu618= Multiple submitters
- p.Ser44Phe Multiple submitters
- c.1027+11A>G Single submitter
- c.1027+11dup Single submitter
- c.1027+7del Single submitter
- c.1027+7G>T Single submitter
- c.1028-19C>T Single submitter
- c.1028-4C>T Single submitter
- c.1139+12G>C Single submitter
- c.1139+12G>T Single submitter
- c.1139+15A>C Single submitter
- c.1139+9A>T Single submitter
- c.1140-13T>C Single submitter
- c.1140-18_1140-15del Single submitter
- c.1208+11_1208+14del Single submitter
- c.1208+19A>G Single submitter
- c.1208+20A>T Single submitter
- c.1352+16T>C Single submitter
- c.1352+19T>C Single submitter
- c.1352+8T>C Single submitter
- c.1353-19A>C Single submitter
- c.1518+17G>A Single submitter
- c.1519-12T>G Single submitter
- c.1519-14T>C Single submitter
- c.1519-15T>A Single submitter
- c.1519-16T>C Single submitter
- c.1519-17_1519-16del Single submitter
- c.1519-17A>T Single submitter
- c.1519-19del Single submitter
- c.1519-4C>G Single submitter
- c.1519-6dup Single submitter
- c.165+12G>T Single submitter
- c.165+13G>A Single submitter
- c.166-13G>T Single submitter
- c.166-17C>G Single submitter
- c.1683+10C>A Single submitter
- c.1683+14A>C Single submitter
- c.1683+15A>G Single submitter
- c.1683+17G>A Single submitter
- c.1683+9A>G Single submitter
- c.1684-17A>G Single submitter
- c.1684-7C>G Single submitter
- c.1823+10G>C Single submitter
- c.1823+17C>A Single submitter
- c.1823+17C>G Single submitter
- c.1823+17C>T Single submitter
- c.1824-10_1824-5del Single submitter
- c.1926+18A>G Single submitter
- c.1926+19G>A Single submitter
- c.1926+9C>T Single submitter
- c.1927-12C>T Single submitter
- c.1927-19C>T Single submitter
- c.1927-19CT[2] Single submitter
- c.1927-9C>A Single submitter
- c.1927-9C>G Single submitter
- c.2125+14_2125+15del Single submitter
- c.2125+14C>A Single submitter
- c.2126-11C>T Single submitter
- c.2126-15G>A Single submitter
- c.2217+11_2217+13del Single submitter
- c.2218-11C>T Single submitter
- c.2218-12C>T Single submitter
- c.2218-16A>G Single submitter
- c.2218-18C>T Single submitter
- c.2218-19C>T Single submitter
- c.2355+14A>G Single submitter
- c.2355+15T>C Single submitter
- c.2355+16A>G Single submitter
- c.2355+8C>G Single submitter
- c.2356-15A>C Single submitter
- c.2356-6C>T Single submitter
- c.2356-9C>T Single submitter
- c.255+12A>G Single submitter
- c.255+6dup Single submitter
- c.255+7G>A Single submitter
- c.256-10C>G Single submitter
- c.256-18T>A Single submitter
- c.375+17T>C Single submitter
- c.375+19del Single submitter
- c.376-12G>C Single submitter
- c.376-14G>T Single submitter
- c.376-16C>A Single submitter
- c.376-16C>T Single submitter
- c.514+20G>A Single submitter
- c.515-17C>T Single submitter
- c.702+7C>T Single submitter
- c.702+9T>C Single submitter
- c.703-12G>A Single submitter
- c.832+10G>A Single submitter
- c.832+17G>A Single submitter
- c.832+9C>T Single submitter
- c.833-13G>C Single submitter
- c.833-18C>T Single submitter
- p.Ala10= Single submitter
- p.Ala106= Single submitter
- p.Ala117= Single submitter
- p.Ala488= Single submitter
- p.Ala681= Single submitter
- p.Ala758= Single submitter
- p.Ala774= Single submitter
- p.Arg182= Single submitter
- p.Arg298= Single submitter
- p.Arg676= Single submitter
- p.Arg871= Single submitter
- p.Arg874= Single submitter
- p.Arg89Cys Single submitter
- p.Asn110= Single submitter
- p.Asn310= Single submitter
- p.Asn376= Single submitter
- p.Asn483= Single submitter
- p.Asn594Ser Single submitter
- p.Asp612= Single submitter
- p.Cys860= Single submitter
- p.Gln530Arg Single submitter
- p.Gln602= Single submitter
- p.Gln614= Single submitter
- p.Gln656Arg Single submitter
- p.Gln667= Single submitter
- p.Gln698= Single submitter
- p.Gln738= Single submitter
- p.Gln793= Single submitter
- p.Glu354= Single submitter
- p.Glu426= Single submitter
- p.Glu536= Single submitter
- p.Glu643= Single submitter
- p.Glu709= Single submitter
- p.Glu83= Single submitter
- p.Glu91= Single submitter
- p.Glu94= Single submitter
- p.Gly230= Single submitter
- p.Gly263= Single submitter
- p.Gly393= Single submitter
- p.Gly4= Single submitter
- p.Gly845= Single submitter
- p.His348= Single submitter
- p.His496= Single submitter
- p.His711= Single submitter
- p.Ile247= Single submitter
- p.Ile267= Single submitter
- p.Ile301= Single submitter
- p.Ile430= Single submitter
- p.Leu180= Single submitter
- p.Leu264= Single submitter
- p.Leu276= Single submitter
- p.Leu291= Single submitter
- p.Leu316= Single submitter
- p.Leu331= Single submitter
- p.Leu373= Single submitter
- p.Leu456= Single submitter
- p.Leu515= Single submitter
- p.Leu717= Single submitter
- p.Leu743= Single submitter
- p.Leu792= Single submitter
- p.Leu801= Single submitter
- p.Lys242= Single submitter
- p.Phe257= Single submitter
- p.Phe468= Single submitter
- p.Phe517= Single submitter
- p.Phe726= Single submitter
- p.Pro319= Single submitter
- p.Pro339= Single submitter
- p.Pro721= Single submitter
- p.Pro844= Single submitter
- p.Ser135= Single submitter
- p.Ser2= Single submitter
- p.Ser273= Single submitter
- p.Ser377= Single submitter
- p.Ser385= Single submitter
- p.Ser405= Single submitter
- p.Ser433= Single submitter
- p.Ser47= Single submitter
- p.Ser522= Single submitter
- p.Ser532= Single submitter
- p.Ser635Thr Single submitter
- p.Ser668= Single submitter
- p.Thr122= Single submitter
- p.Thr140= Single submitter
- p.Thr255= Single submitter
- p.Thr613= Single submitter
- p.Thr746= Single submitter
- p.Thr776= Single submitter
- p.Tyr558= Single submitter
- p.Tyr869= Single submitter
- p.Val45= Single submitter
- p.Val467= Single submitter
- p.Val56= Single submitter
- p.Val93= Single submitter
Uncertain significance 347
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala106Ser Multiple submitters ⚠
- p.Ala761Thr Multiple submitters ⚠
- p.Arg218Gln Multiple submitters ⚠
- p.Arg250Gln Multiple submitters ⚠
- p.Arg282Gln Multiple submitters ⚠
- p.Arg298His Multiple submitters ⚠
- p.Arg298Pro Multiple submitters
- p.Arg324Cys Multiple submitters ⚠
- p.Arg324His Multiple submitters ⚠
- p.Arg363Cys Multiple submitters ⚠
- p.Arg36Cys Multiple submitters ⚠
- p.Arg379His Multiple submitters ⚠
- p.Arg414Cys Multiple submitters ⚠
- p.Arg414Ser Multiple submitters ⚠
- p.Arg477His Multiple submitters ⚠
- p.Arg603Trp Multiple submitters ⚠
- p.Arg644Trp Multiple submitters
- p.Arg675Gln Multiple submitters ⚠
- p.Arg676Gln Multiple submitters ⚠
- p.Arg676Trp Multiple submitters ⚠
- p.Arg804Gln Multiple submitters ⚠
- p.Arg81Gln Multiple submitters ⚠
- p.Arg829Cys Multiple submitters ⚠
- p.Arg871Gln Multiple submitters ⚠
- p.Arg877Cys Multiple submitters ⚠
- p.Asn110Ser Multiple submitters ⚠
- p.Asn189Ser Multiple submitters ⚠
- p.Asn345Lys Multiple submitters ⚠
- p.Asn594Asp Multiple submitters ⚠
- p.Asn740Thr Multiple submitters ⚠
- p.Asp200His Multiple submitters ⚠
- p.Asp396Ala Multiple submitters ⚠
- p.Asp779Glu Multiple submitters ⚠
- p.Gln233Glu Multiple submitters ⚠
- p.Gln446Pro Multiple submitters ⚠
- p.Gln642Glu Multiple submitters ⚠
- p.Glu236Lys Multiple submitters ⚠
- p.Glu248Lys Multiple submitters ⚠
- p.Glu248Val Multiple submitters ⚠
- p.Glu403Lys Multiple submitters ⚠
- p.Glu577Lys Multiple submitters
- p.Glu604Lys Multiple submitters ⚠
- p.Gly230Glu Multiple submitters ⚠
- p.Gly231Ser Multiple submitters ⚠
- p.His509Arg Multiple submitters ⚠
- p.His610Arg Multiple submitters ⚠
- p.Ile126Asn Multiple submitters ⚠
- p.Ile524Thr Multiple submitters ⚠
- p.Ile648Thr Multiple submitters
- p.Leu317Phe Multiple submitters ⚠
- p.Leu434Val Multiple submitters ⚠
- p.Leu545Val Multiple submitters ⚠
- p.Leu751Phe Multiple submitters ⚠
- p.Leu801Val Multiple submitters ⚠
- p.Met144Thr Multiple submitters ⚠
- p.Met570Ile Multiple submitters ⚠
- p.Pro129Ser Multiple submitters ⚠
- p.Pro294Leu Multiple submitters ⚠
- p.Pro319Leu Multiple submitters ⚠
- p.Pro533Leu Multiple submitters ⚠
- p.Pro855Thr Multiple submitters ⚠
- p.Pro8Leu Multiple submitters ⚠
- p.Ser190Asn Multiple submitters ⚠
- p.Ser532Phe Multiple submitters ⚠
- p.Ser635Ile Multiple submitters ⚠
- p.Ser883Tyr Multiple submitters ⚠
- p.Thr158Ser Multiple submitters ⚠
- p.Thr169Met Multiple submitters ⚠
- p.Thr48Ala Multiple submitters ⚠
- p.Tyr159Asn Multiple submitters ⚠
- p.Val484Met Multiple submitters ⚠
- p.Val508Met Multiple submitters ⚠
- p.Val730Met Multiple submitters ⚠
- c.1027+1G>A Single submitter
- c.1208+2dup Single submitter
- c.1209-6T>G Single submitter
- c.1683+1G>A Single submitter
- c.1823+5T>C Single submitter
- c.1824-2A>C Single submitter
- c.1926+3G>A Single submitter
- c.1926+4A>G Single submitter
- c.1926+5G>A Single submitter
- c.2126-3C>T Single submitter
- c.2217+6T>G Single submitter
- c.2355+1G>T Single submitter
- c.255+1G>A Single submitter
- c.255+4A>G Single submitter
- c.255+5G>A Single submitter
- c.375+1G>C Single submitter
- c.375+3A>G Single submitter
- c.514+1G>A Single submitter
- c.514+4A>G Single submitter
- c.514+5G>A Single submitter
- c.702+2dup Single submitter
- c.702+4_702+8del Single submitter
- c.702+5A>G Single submitter
- c.703-2A>G Single submitter
- c.703-3C>A Single submitter
- c.832+1G>T Single submitter
- p.Ala100Val Single submitter ⚠
- p.Ala134Pro Single submitter ⚠
- p.Ala134Thr Single submitter ⚠
- p.Ala185Val Single submitter ⚠
- p.Ala295Gly Single submitter ⚠
- p.Ala539Pro Single submitter ⚠
- p.Ala664Val Single submitter ⚠
- p.Ala681Thr Single submitter ⚠
- p.Ala723Ser Single submitter ⚠
- p.Ala768Gly Single submitter ⚠
- p.Ala774Gly Single submitter ⚠
- p.Arg112Gln Single submitter ⚠
- p.Arg112Gly Single submitter ⚠
- p.Arg112Trp Single submitter ⚠
- p.Arg182Gln Single submitter
- p.Arg182Trp Single submitter cardiomyopathy, familial restrictive, 6 ⚠
- p.Arg218Ter Single submitter
- p.Arg250Trp Single submitter ⚠
- p.Arg298Cys Single submitter ⚠
- p.Arg330Gln Single submitter
- p.Arg330Trp Single submitter ⚠
- p.Arg36= Single submitter
- p.Arg363His Single submitter ⚠
- p.Arg379Cys Single submitter ⚠
- p.Arg414His Single submitter ⚠
- p.Arg423Gln Single submitter ⚠
- p.Arg423Trp Single submitter ⚠
- p.Arg439His Single submitter
- p.Arg445Cys Single submitter ⚠
- p.Arg445His Single submitter
- p.Arg451= Single submitter
- p.Arg451Trp Single submitter ⚠
- p.Arg460Cys Single submitter ⚠
- p.Arg460His Single submitter ⚠
- p.Arg466Gln Single submitter ⚠
- p.Arg466Ter Single submitter
- p.Arg578Leu Single submitter
- p.Arg589Ter Single submitter
- p.Arg603Gln Single submitter ⚠
- p.Arg644Gln Single submitter ⚠
- p.Arg675Trp Single submitter ⚠
- p.Arg772Cys Single submitter ⚠
- p.Arg772His Single submitter ⚠
- p.Arg804Trp Single submitter
- p.Arg81Ter Single submitter
- p.Arg829Gly Single submitter
- p.Arg851Ter Single submitter
- p.Arg856Gln Single submitter ⚠
- p.Arg856Ter Single submitter
- p.Arg871Trp Single submitter ⚠
- p.Arg874Cys Single submitter ⚠
- p.Arg874His Single submitter ⚠
- p.Arg876Gln Single submitter ⚠
- p.Arg876Trp Single submitter
- p.Arg877His Single submitter ⚠
- p.Arg89His Single submitter ⚠
- p.Asn163His Single submitter ⚠
- p.Asn296Lys Single submitter ⚠
- p.Asn365His Single submitter ⚠
- p.Asn447Asp Single submitter ⚠
- p.Asn483Ser Single submitter
- p.Asp147Asn Single submitter ⚠
- p.Asp147Tyr Single submitter ⚠
- p.Asp213Glu Single submitter ⚠
- p.Asp277Asn Single submitter ⚠
- p.Asp287Glu Single submitter ⚠
- p.Asp30Glu Single submitter ⚠
- p.Asp351Glu Single submitter ⚠
- p.Asp396Asn Single submitter ⚠
- p.Asp417Tyr Single submitter ⚠
- p.Asp492Asn Single submitter ⚠
- p.Asp547Glu Single submitter ⚠
- p.Asp548del Single submitter
- p.Asp645Tyr Single submitter
- p.Cys332Tyr Single submitter ⚠
- p.Cys407Tyr Single submitter ⚠
- p.Cys415Arg Single submitter ⚠
- p.Cys440Tyr Single submitter ⚠
- p.Cys607Tyr Single submitter ⚠
- p.Cys699Arg Single submitter ⚠
- p.Cys809Phe Single submitter
- p.Cys860Arg Single submitter ⚠
- p.Gln116Ter Single submitter
- p.Gln125Lys Single submitter ⚠
- p.Gln133Arg Single submitter ⚠
- p.Gln350Arg Single submitter ⚠
- p.Gln418Arg Single submitter ⚠
- p.Gln418His Single submitter
- p.Gln506= Single submitter
- p.Gln506Arg Single submitter ⚠
- p.Gln666Ter Single submitter
- p.Gln667Lys Single submitter ⚠
- p.Gln690His Single submitter ⚠
- p.Gln749Glu Single submitter ⚠
- p.Glu111Gly Single submitter ⚠
- p.Glu333Lys Single submitter ⚠
- p.Glu51Gly Single submitter ⚠
- p.Glu526Lys Single submitter ⚠
- p.Glu526Val Single submitter ⚠
- p.Glu561Lys Single submitter ⚠
- p.Glu604Gln Single submitter ⚠
- p.Glu620fs Single submitter
- p.Glu631Asp Single submitter ⚠
- p.Glu640Gly Single submitter ⚠
- p.Glu643Asp Single submitter ⚠
- p.Glu649Lys Single submitter ⚠
- p.Glu702Lys Single submitter ⚠
- p.Glu759Lys Single submitter
- p.Glu78Lys Single submitter ⚠
- p.Gly177Arg Single submitter ⚠
- p.Gly193Val Single submitter ⚠
- p.Gly263Arg Single submitter ⚠
- p.Gly393Ala Single submitter ⚠
- p.Gly421Asp Single submitter ⚠
- p.Gly476Asp Single submitter ⚠
- p.Gly4Arg Single submitter ⚠
- p.Gly752Ser Single submitter ⚠
- p.Gly767Arg Single submitter
- p.Gly769= Single submitter
- p.Gly769Arg Single submitter ⚠
- p.Gly831Ala Single submitter ⚠
- p.Gly831Asp Single submitter ⚠
- p.His196Asn Single submitter ⚠
- p.His372Arg Single submitter ⚠
- p.His509Tyr Single submitter ⚠
- p.His521Arg Single submitter ⚠
- p.His521Tyr Single submitter ⚠
- p.His610Gln Single submitter ⚠
- p.His610Tyr Single submitter ⚠
- p.His665Tyr Single submitter ⚠
- p.His711Arg Single submitter ⚠
- p.His711Pro Single submitter ⚠
- p.Ile114Thr Single submitter ⚠
- p.Ile179Val Single submitter ⚠
- p.Ile251Thr Single submitter ⚠
- p.Ile267Val Single submitter ⚠
- p.Ile383Val Single submitter ⚠
- p.Ile386Val Single submitter ⚠
- p.Ile555Thr Single submitter ⚠
- p.Ile810Met Single submitter
- p.Leu13Pro Single submitter ⚠
- p.Leu180Ile Single submitter ⚠
- p.Leu191Ile Single submitter ⚠
- p.Leu191Pro Single submitter ⚠
- p.Leu205Phe Single submitter ⚠
- p.Leu241Ser Single submitter ⚠
- p.Leu495Ile Single submitter ⚠
- p.Leu495Pro Single submitter ⚠
- p.Leu520Pro Single submitter
- p.Leu573Arg Single submitter ⚠
- p.Leu651Ile Single submitter ⚠
- p.Leu654Val Single submitter ⚠
- p.Leu689Phe Single submitter ⚠
- p.Leu6Val Single submitter ⚠
- p.Leu74Phe Single submitter ⚠
- p.Leu775Ser Single submitter ⚠
- p.Leu850Phe Single submitter ⚠
- p.Leu853Ter Single submitter
- p.Leu854His Single submitter ⚠
- p.Leu873Pro Single submitter ⚠
- p.Leu880Ter Single submitter
- p.Leu96Phe Single submitter ⚠
- p.Lys175Arg Single submitter ⚠
- p.Lys215Arg Single submitter ⚠
- p.Lys242Asn Single submitter ⚠
- p.Lys360Ile Single submitter
- p.Lys419Asn Single submitter ⚠
- p.Lys425Glu Single submitter ⚠
- p.Lys463Asn Single submitter ⚠
- p.Lys537Ile Single submitter ⚠
- p.Lys625Thr Single submitter
- p.Lys64Met Single submitter ⚠
- p.Lys695Gln Single submitter ⚠
- p.Lys806Glu Single submitter cardiomyopathy, familial restrictive, 6 ⚠
- p.Lys882Thr Single submitter ⚠
- p.Met1Val Single submitter
- p.Met557Thr Single submitter ⚠
- p.Met600Ile Single submitter ⚠
- p.Met600Thr Single submitter ⚠
- p.Met621Thr Single submitter ⚠
- p.Met716Ile Single submitter ⚠
- p.Met796Thr Single submitter ⚠
- p.Phe299Leu Single submitter ⚠
- p.Phe305Leu Single submitter ⚠
- p.Phe472fs Single submitter
- p.Phe886Ser Single submitter ⚠
- p.Pro286Arg Single submitter ⚠
- p.Pro286Thr Single submitter ⚠
- p.Pro292Ser Single submitter ⚠
- p.Pro292Thr Single submitter ⚠
- p.Pro458Ala Single submitter ⚠
- p.Pro512Arg Single submitter ⚠
- p.Pro512Leu Single submitter ⚠
- p.Pro57Ala Single submitter ⚠
- p.Pro721Leu Single submitter ⚠
- p.Pro721Ser Single submitter ⚠
- p.Pro848Ala Single submitter ⚠
- p.Ser104Cys Single submitter ⚠
- p.Ser14Cys Single submitter ⚠
- p.Ser190Arg Single submitter ⚠
- p.Ser190Ile Single submitter