Sugi Variant

Sugi Variant/BAG3

BAG3 — 1288 ClinVar variants

All ClinVar germline BAG3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 732 flagged for review →

92 Pathogenic · 17 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 96 Conflicting · 26 Benign · 19 Benign/Likely benign · 285 Likely benign · 723 Uncertain significance

Full BAG3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 732

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 42

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 407

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 407

Predictors split 282

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 282

All BAG3 variants

Pathogenic 92

  • p.Arg203fs Multiple submitters Cardiovascular phenotype
  • p.Arg309Ter Multiple submitters dilated cardiomyopathy
  • p.Arg90Ter Multiple submitters Cardiovascular phenotype
  • p.Gln132Ter Multiple submitters Cardiovascular phenotype
  • p.Gln135Ter Multiple submitters Cardiovascular phenotype
  • p.Gln271Ter Multiple submitters dilated cardiomyopathy 1HH
  • p.Gln88Ter Multiple submitters myofibrillar myopathy 6
  • p.Glu239Ter Multiple submitters dilated cardiomyopathy 1HH
  • p.Glu455Lys Multiple submitters Cardiovascular phenotype
  • p.Leu423fs Multiple submitters Cardiovascular phenotype
  • p.Met10fs Multiple submitters dilated cardiomyopathy 1HH
  • p.Pro209Leu Multiple submitters Cardiovascular phenotype
  • p.Pro470Ser Multiple submitters myofibrillar myopathy 6 ⚠
  • p.Pro87fs Multiple submitters dilated cardiomyopathy 1HH
  • p.Ser70fs Multiple submitters dilated cardiomyopathy 1HH
  • p.Trp255Ter Multiple submitters Cardiovascular phenotype
  • p.Tyr233Ter Multiple submitters Cardiovascular phenotype
  • p.Tyr86Ter Multiple submitters myofibrillar myopathy 6
  • p.Val432fs Multiple submitters myofibrillar myopathy 6
  • c.820_909+355del Single submitter myofibrillar myopathy 6
  • p.Ala13fs Single submitter myofibrillar myopathy 6
  • p.Ala164fs Single submitter dilated cardiomyopathy 1HH
  • p.Ala176_Ser177insTer Single submitter myofibrillar myopathy 6
  • p.Ala262fs Single submitter dilated cardiomyopathy 1HH
  • p.Arg282fs Single submitter Cardiovascular phenotype
  • p.Arg75fs Single submitter Cardiovascular phenotype
  • p.Asn67fs Single submitter dilated cardiomyopathy 1HH
  • p.Cys179Ter Single submitter dilated cardiomyopathy 1HH
  • p.Cys373fs Single submitter myofibrillar myopathy 6
  • p.Gln116Ter Single submitter dilated cardiomyopathy 1HH
  • p.Gln120Ter Single submitter dilated cardiomyopathy 1HH
  • p.Gln150fs Single submitter
  • p.Gln150Ter Single submitter dilated cardiomyopathy 1HH
  • p.Gln153Ter Single submitter myofibrillar myopathy 6
  • p.Gln161Ter Single submitter Cardiovascular phenotype
  • p.Gln172Ter Single submitter myofibrillar myopathy 6
  • p.Gln200Ter Single submitter dilated cardiomyopathy 1HH
  • p.Gln214Ter Single submitter myofibrillar myopathy 6
  • p.Gln227Ter Single submitter Cardiovascular phenotype
  • p.Gln237Ter Single submitter
  • p.Gln251fs Single submitter dilated cardiomyopathy 1HH
  • p.Gln303Ter Single submitter dilated cardiomyopathy 1HH
  • p.Gln33fs Single submitter dilated cardiomyopathy 1HH
  • p.Gln340Ter Single submitter dilated cardiomyopathy 1HH
  • p.Gln353fs Single submitter myofibrillar myopathy 6
  • p.Gln353Ter Single submitter dilated cardiomyopathy 1HH
  • p.Gln433Ter Single submitter dilated cardiomyopathy 1HH
  • p.Glu256Ter Single submitter dilated cardiomyopathy 1HH
  • p.Glu345fs Single submitter Cardiovascular phenotype
  • p.Glu363_Pro569del Single submitter dilated cardiomyopathy 1HH
  • p.Glu394fs Single submitter Cardiovascular phenotype
  • p.Glu426fs Single submitter Cardiovascular phenotype
  • p.Glu443Ter Single submitter dilated cardiomyopathy 1HH
  • p.Glu456Gln Single submitter dilated cardiomyopathy 1HH
  • p.Gly118fs Single submitter myofibrillar myopathy 6
  • p.Gly167Ter Single submitter dilated cardiomyopathy 1HH
  • p.Gly472Ter Single submitter dilated cardiomyopathy 1HH
  • p.His112fs Single submitter dilated cardiomyopathy 1HH
  • p.His243fs Single submitter myofibrillar myopathy 6
  • p.His288fs Single submitter dilated cardiomyopathy 1HH
  • p.Ile337fs Single submitter dilated cardiomyopathy 1HH
  • p.Ile339fs Single submitter myofibrillar myopathy 6
  • p.Ile96fs Single submitter dilated cardiomyopathy 1HH
  • p.Leu22fs Single submitter dilated cardiomyopathy 1HH
  • p.Lys344fs Single submitter myofibrillar myopathy 6
  • p.Lys388fs Single submitter dilated cardiomyopathy 1HH
  • p.Lys450Ter Single submitter myofibrillar myopathy 6
  • p.Met306fs Single submitter dilated cardiomyopathy 1HH
  • p.Phe111fs Single submitter myofibrillar myopathy 6
  • p.Pro163fs Single submitter myofibrillar myopathy 6
  • p.Pro209Gln Single submitter dilated cardiomyopathy 1HH
  • p.Pro219fs Single submitter myofibrillar myopathy 6
  • p.Pro325fs Single submitter dilated cardiomyopathy 1HH
  • p.Pro357fs Single submitter dilated cardiomyopathy 1HH
  • p.Ser14fs Single submitter myofibrillar myopathy 6
  • p.Ser268Ter Single submitter myofibrillar myopathy 6
  • p.Ser274Ter Single submitter dilated cardiomyopathy 1HH
  • p.Ser275fs Single submitter dilated cardiomyopathy 1HH
  • p.Ser2fs Single submitter myofibrillar myopathy 6
  • p.Ser56fs Single submitter myofibrillar myopathy 6
  • p.Thr145fs Single submitter myofibrillar myopathy 6
  • p.Thr297fs Single submitter
  • p.Thr47fs Single submitter Cardiovascular phenotype
  • p.Trp26Ter Single submitter dilated cardiomyopathy 1HH
  • p.Trp49Ter Single submitter dilated cardiomyopathy 1HH
  • p.Tyr240Ter Single submitter dilated cardiomyopathy 1HH
  • p.Tyr93fs Single submitter myofibrillar myopathy 6
  • p.Val295fs Single submitter Cardiovascular phenotype
  • p.Val54fs Single submitter dilated cardiomyopathy 1HH
  • p.Arg218fs No assertion criteria dilated cardiomyopathy 1HH
  • p.Ser385fs No assertion criteria dilated cardiomyopathy
  • p.Val505fs No assertion criteria neuronopathy, distal hereditary motor, autosomal dominant 15

Pathogenic/Likely pathogenic 17

  • p.Arg121Ter Multiple submitters myofibrillar myopathy 6
  • p.Arg123Ter Multiple submitters Cardiovascular phenotype
  • p.Gln244Ter Multiple submitters dilated cardiomyopathy
  • p.Gln251Ter Multiple submitters myofibrillar myopathy 6
  • p.Gln304Ter Multiple submitters myofibrillar myopathy 6
  • p.Gln316Ter Multiple submitters myofibrillar myopathy 6
  • p.Glu414Ter Multiple submitters Cardiovascular phenotype
  • p.Gly25fs Multiple submitters dilated cardiomyopathy 1HH
  • p.Leu287fs Multiple submitters dilated cardiomyopathy 1HH
  • p.Lys324fs Multiple submitters myofibrillar myopathy 6
  • p.Pro209Ser Multiple submitters myofibrillar myopathy 6
  • p.Pro356fs Multiple submitters myofibrillar myopathy 6
  • p.Ser377fs Multiple submitters dilated cardiomyopathy 1HH
  • p.Trp36Ter Multiple submitters dilated cardiomyopathy 1HH
  • p.Tyr205fs Multiple submitters dilated cardiomyopathy
  • p.Tyr451Ter Multiple submitters myofibrillar myopathy 6
  • p.Pro420fs No assertion criteria

Likely pathogenic 30

Conflicting classifications of pathogenicity 96

Benign 26

Benign/Likely benign 19

  • p.Ala160dup Multiple submitters myofibrillar myopathy 6
  • p.Ala235= Multiple submitters myofibrillar myopathy 6
  • p.Arg258Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg71Gln Multiple submitters Cardiovascular phenotype
  • p.Asp300Asn Multiple submitters Cardiovascular phenotype
  • p.Cys151Arg Multiple submitters Cardiovascular phenotype
  • p.Glu393= Multiple submitters Cardiovascular phenotype
  • p.Gly102= Multiple submitters Cardiovascular phenotype
  • p.His166= Multiple submitters myofibrillar myopathy 6
  • p.His83Gln Multiple submitters myofibrillar myopathy 6
  • p.Met9Val Multiple submitters Cardiovascular phenotype
  • p.Pro209= Multiple submitters myofibrillar myopathy 6
  • p.Pro380Ser Multiple submitters Cardiovascular phenotype
  • p.Pro63Ala Multiple submitters Cardiovascular phenotype
  • p.Pro77= Multiple submitters myofibrillar myopathy 6
  • p.Pro77Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser291= Multiple submitters Cardiovascular phenotype
  • c.*31C>T Single submitter dilated cardiomyopathy 1HH
  • p.Gly204= No assertion criteria

Likely benign 285

  • c.180+13C>T Multiple submitters myofibrillar myopathy 6
  • c.180+43C>T Multiple submitters
  • c.180+7C>T Multiple submitters dilated cardiomyopathy 1HH
  • c.181-10T>C Multiple submitters myofibrillar myopathy 6
  • c.507+58C>T Multiple submitters
  • c.508-17C>T Multiple submitters myofibrillar myopathy 6
  • c.909+109C>T Multiple submitters
  • c.909+16C>T Multiple submitters myofibrillar myopathy 6
  • c.909+40A>G Multiple submitters
  • p.Ala126= Multiple submitters Cardiovascular phenotype
  • p.Ala129= Multiple submitters dilated cardiomyopathy 1HH
  • p.Ala156= Multiple submitters myofibrillar myopathy 6
  • p.Ala157= Multiple submitters Cardiovascular phenotype
  • p.Ala158= Multiple submitters Cardiovascular phenotype
  • p.Ala160= Multiple submitters dilated cardiomyopathy 1HH
  • p.Ala262= Multiple submitters myofibrillar myopathy 6
  • p.Ala413= Multiple submitters Cardiovascular phenotype
  • p.Ala427= Multiple submitters myofibrillar myopathy 6
  • p.Ala438= Multiple submitters myofibrillar myopathy 6
  • p.Ala474= Multiple submitters Cardiovascular phenotype
  • p.Ala531= Multiple submitters Cardiovascular phenotype
  • p.Arg106= Multiple submitters Cardiovascular phenotype
  • p.Arg218Gln Multiple submitters Cardiovascular phenotype
  • p.Arg276= Multiple submitters myofibrillar myopathy 6
  • p.Arg480= Multiple submitters Cardiovascular phenotype
  • p.Asn215= Multiple submitters Cardiovascular phenotype
  • p.Asp31= Multiple submitters dilated cardiomyopathy 1HH
  • p.Asp448= Multiple submitters Cardiovascular phenotype
  • p.Asp475Asn Multiple submitters Cardiovascular phenotype
  • p.Asp482= Multiple submitters Cardiovascular phenotype
  • p.Asp518= Multiple submitters Cardiovascular phenotype
  • p.Gln161= Multiple submitters dilated cardiomyopathy 1HH
  • p.Gln433= Multiple submitters dilated cardiomyopathy 1HH
  • p.Gln88= Multiple submitters dilated cardiomyopathy 1HH
  • p.Glu443= Multiple submitters myofibrillar myopathy 6
  • p.Gly140= Multiple submitters dilated cardiomyopathy 1HH
  • p.Gly192= Multiple submitters myofibrillar myopathy 6
  • p.Gly238= Multiple submitters Cardiovascular phenotype
  • p.Gly25= Multiple submitters myofibrillar myopathy 6
  • p.Gly252= Multiple submitters myofibrillar myopathy 6
  • p.Gly278= Multiple submitters Cardiovascular phenotype
  • p.Gly68= Multiple submitters myofibrillar myopathy 6
  • p.His212= Multiple submitters dilated cardiomyopathy 1HH
  • p.His83= Multiple submitters Cardiovascular phenotype
  • p.Ile339= Multiple submitters Cardiovascular phenotype
  • p.Ile454= Multiple submitters myofibrillar myopathy 6
  • p.Ile490= Multiple submitters myofibrillar myopathy 6
  • p.Leu458= Multiple submitters Cardiovascular phenotype
  • p.Leu510= Multiple submitters dilated cardiomyopathy 1HH
  • p.Leu521= Multiple submitters Cardiovascular phenotype
  • p.Lys349= Multiple submitters Cardiovascular phenotype
  • p.Lys354= Multiple submitters Cardiovascular phenotype
  • p.Phe266= Multiple submitters Cardiovascular phenotype
  • p.Phe38= Multiple submitters myofibrillar myopathy 6
  • p.Pro202= Multiple submitters Cardiovascular phenotype
  • p.Pro259= Multiple submitters myofibrillar myopathy 6
  • p.Pro265= Multiple submitters Cardiovascular phenotype
  • p.Pro325= Multiple submitters dilated cardiomyopathy 1HH
  • p.Pro327= Multiple submitters Cardiovascular phenotype
  • p.Pro375= Multiple submitters dilated cardiomyopathy 1HH
  • p.Pro380= Multiple submitters myofibrillar myopathy 6
  • p.Pro384= Multiple submitters Cardiovascular phenotype
  • p.Pro416= Multiple submitters Cardiovascular phenotype
  • p.Pro470= Multiple submitters Cardiovascular phenotype
  • p.Pro545= Multiple submitters Cardiovascular phenotype
  • p.Pro55= Multiple submitters Cardiovascular phenotype
  • p.Pro87= Multiple submitters myofibrillar myopathy 6
  • p.Ser165= Multiple submitters myofibrillar myopathy 6
  • p.Ser180= Multiple submitters Cardiovascular phenotype
  • p.Ser191= Multiple submitters Cardiovascular phenotype
  • p.Ser195= Multiple submitters Cardiovascular phenotype
  • p.Ser264= Multiple submitters myofibrillar myopathy 6
  • p.Ser385= Multiple submitters dilated cardiomyopathy 1HH
  • p.Ser44= Multiple submitters Cardiovascular phenotype
  • p.Ser467= Multiple submitters Cardiovascular phenotype
  • p.Ser70= Multiple submitters Cardiovascular phenotype
  • p.Thr124= Multiple submitters myofibrillar myopathy 6
  • p.Thr144= Multiple submitters Cardiovascular phenotype
  • p.Thr217= Multiple submitters Cardiovascular phenotype
  • p.Thr297= Multiple submitters Cardiovascular phenotype
  • p.Thr34= Multiple submitters Cardiovascular phenotype
  • p.Thr392= Multiple submitters Cardiovascular phenotype
  • p.Thr46= Multiple submitters Cardiovascular phenotype
  • p.Thr48= Multiple submitters Cardiovascular phenotype
  • p.Thr566= Multiple submitters Cardiovascular phenotype
  • p.Val113= Multiple submitters Cardiovascular phenotype
  • p.Val12= Multiple submitters Cardiovascular phenotype
  • p.Val328= Multiple submitters Cardiovascular phenotype
  • p.Val422= Multiple submitters Cardiovascular phenotype
  • p.Val476= Multiple submitters Cardiovascular phenotype
  • p.Val85= Multiple submitters Cardiovascular phenotype
  • c.180+10G>C Single submitter dilated cardiomyopathy 1HH
  • c.180+11C>T Single submitter myofibrillar myopathy 6
  • c.180+12C>T Single submitter myofibrillar myopathy 6
  • c.180+14G>A Single submitter myofibrillar myopathy 6
  • c.180+15C>T Single submitter myofibrillar myopathy 6
  • c.180+16G>T Single submitter dilated cardiomyopathy 1HH
  • c.180+19_180+20delinsTT Single submitter myofibrillar myopathy 6
  • c.180+20C>A Single submitter dilated cardiomyopathy 1HH
  • c.180+20C>T Single submitter myofibrillar myopathy 6
  • c.180+5701G>A Single submitter
  • c.180+7C>G Single submitter dilated cardiomyopathy 1HH
  • c.180+9G>C Single submitter myofibrillar myopathy 6
  • c.181-18C>A Single submitter myofibrillar myopathy 6
  • c.181-20T>C Single submitter dilated cardiomyopathy 1HH
  • c.181-6T>C Single submitter myofibrillar myopathy 6
  • c.507+10G>A Single submitter myofibrillar myopathy 6
  • c.507+15G>C Single submitter dilated cardiomyopathy 1HH
  • c.507+16G>A Single submitter dilated cardiomyopathy 1HH
  • c.507+19C>T Single submitter myofibrillar myopathy 6
  • c.507+7A>G Single submitter myofibrillar myopathy 6
  • c.508-18A>T Single submitter myofibrillar myopathy 6
  • c.508-7_508-6del Single submitter myofibrillar myopathy 6
  • c.909+11T>A Single submitter myofibrillar myopathy 6
  • c.909+191C>T Single submitter
  • c.909+193G>A Single submitter
  • c.909+19C>T Single submitter myofibrillar myopathy 6
  • c.909+7del Single submitter dilated cardiomyopathy 1HH
  • c.909+9A>C Single submitter myofibrillar myopathy 6
  • c.910-15G>C Single submitter myofibrillar myopathy 6
  • c.910-17T>C Single submitter myofibrillar myopathy 6
  • c.910-21_910-20delinsCC Single submitter myofibrillar myopathy 6
  • c.910-258A>C Single submitter
  • c.910-4T>A Single submitter myofibrillar myopathy 6
  • c.910-9T>C Single submitter myofibrillar myopathy 6
  • c.-208C>T Single submitter
  • p.Ala128= Single submitter myofibrillar myopathy 6
  • p.Ala164= Single submitter Cardiovascular phenotype
  • p.Ala175= Single submitter Cardiovascular phenotype
  • p.Ala176= Single submitter myofibrillar myopathy 6
  • p.Ala221= Single submitter myofibrillar myopathy 6
  • p.Ala228= Single submitter dilated cardiomyopathy 1HH
  • p.Ala263= Single submitter myofibrillar myopathy 6
  • p.Ala273= Single submitter Cardiovascular phenotype
  • p.Ala281= Single submitter dilated cardiomyopathy 1HH
  • p.Ala369= Single submitter dilated cardiomyopathy 1HH
  • p.Ala382= Single submitter dilated cardiomyopathy 1HH
  • p.Ala391= Single submitter dilated cardiomyopathy 1HH
  • p.Ala396= Single submitter myofibrillar myopathy 6
  • p.Ala397= Single submitter myofibrillar myopathy 6
  • p.Ala403= Single submitter dilated cardiomyopathy 1HH
  • p.Ala405= Single submitter myofibrillar myopathy 6
  • p.Ala498= Single submitter myofibrillar myopathy 6
  • p.Ala529= Single submitter myofibrillar myopathy 6
  • p.Ala532= Single submitter dilated cardiomyopathy 1HH
  • p.Ala542= Single submitter dilated cardiomyopathy 1HH
  • p.Arg133= Single submitter myofibrillar myopathy 6
  • p.Arg203= Single submitter dilated cardiomyopathy 1HH
  • p.Arg261= Single submitter Cardiovascular phenotype
  • p.Arg282= Single submitter myofibrillar myopathy 6
  • p.Arg343= Single submitter dilated cardiomyopathy 1HH
  • p.Arg485= Single submitter myofibrillar myopathy 6
  • p.Asn319= Single submitter myofibrillar myopathy 6
  • p.Asn43= Single submitter myofibrillar myopathy 6
  • p.Asn43Ser Single submitter myofibrillar myopathy 6 ⚠
  • p.Asn514= Single submitter dilated cardiomyopathy 1HH
  • p.Asn561= Single submitter dilated cardiomyopathy 1HH
  • p.Asn571= Single submitter Cardiovascular phenotype
  • p.Asp18= Single submitter myofibrillar myopathy 6
  • p.Asp300= Single submitter dilated cardiomyopathy 1HH
  • p.Asp466= Single submitter dilated cardiomyopathy 1HH
  • p.Asp475= Single submitter myofibrillar myopathy 6
  • p.Cys179= Single submitter
  • p.Gln11= Single submitter dilated cardiomyopathy 1HH
  • p.Gln237= Single submitter myofibrillar myopathy 6
  • p.Gln271Arg Single submitter Cardiovascular phenotype
  • p.Gln33= Single submitter myofibrillar myopathy 6
  • p.Gln340= Single submitter dilated cardiomyopathy 1HH
  • p.Gln522= Single submitter dilated cardiomyopathy 1HH
  • p.Gln551= Single submitter dilated cardiomyopathy 1HH
  • p.Glu104= Single submitter dilated cardiomyopathy 1HH
  • p.Glu213= Single submitter myofibrillar myopathy 6
  • p.Glu239= Single submitter dilated cardiomyopathy 1HH
  • p.Glu256= Single submitter myofibrillar myopathy 6
  • p.Glu345= Single submitter dilated cardiomyopathy 1HH
  • p.Glu394= Single submitter dilated cardiomyopathy 1HH
  • p.Glu455= Single submitter myofibrillar myopathy 6
  • p.Glu471= Single submitter dilated cardiomyopathy 1HH
  • p.Glu495= Single submitter myofibrillar myopathy 6
  • p.Glu509= Single submitter myofibrillar myopathy 6
  • p.Glu526= Single submitter myofibrillar myopathy 6
  • p.Glu553Asp Single submitter myofibrillar myopathy 6
  • p.Glu57= Single submitter Cardiovascular phenotype
  • p.Gly152= Single submitter dilated cardiomyopathy 1HH
  • p.Gly167= Single submitter myofibrillar myopathy 6
  • p.Gly17= Single submitter myofibrillar myopathy 6
  • p.Gly197= Single submitter dilated cardiomyopathy 1HH
  • p.Gly329= Single submitter Cardiovascular phenotype
  • p.Gly35= Single submitter
  • p.Gly421= Single submitter dilated cardiomyopathy 1HH
  • p.Gly434= Single submitter myofibrillar myopathy 6
  • p.Gly472= Single submitter myofibrillar myopathy 6
  • p.Gly483= Single submitter myofibrillar myopathy 6
  • p.Gly528= Single submitter Cardiovascular phenotype
  • p.Gly535= Single submitter dilated cardiomyopathy 1HH
  • p.Gly570= Single submitter Cardiovascular phenotype
  • p.Gly58= Single submitter myofibrillar myopathy 6
  • p.Gly73= Single submitter Cardiovascular phenotype
  • p.His100= Single submitter myofibrillar myopathy 6
  • p.His112= Single submitter myofibrillar myopathy 6
  • p.His243= Single submitter Cardiovascular phenotype
  • p.His288= Single submitter myofibrillar myopathy 6
  • p.His546= Single submitter myofibrillar myopathy 6
  • p.Ile206= Single submitter dilated cardiomyopathy 1HH
  • p.Ile337= Single submitter myofibrillar myopathy 6
  • p.Ile428= Single submitter myofibrillar myopathy 6
  • p.Leu188= Single submitter myofibrillar myopathy 6
  • p.Leu260= Single submitter dilated cardiomyopathy 1HH
  • p.Leu332= Single submitter myofibrillar myopathy 6
  • p.Leu452= Single submitter dilated cardiomyopathy 1HH
  • p.Leu515= Single submitter myofibrillar myopathy 6
  • p.Leu99= Single submitter myofibrillar myopathy 6
  • p.Lys249= Single submitter dilated cardiomyopathy 1HH
  • p.Lys320= Single submitter dilated cardiomyopathy 1HH
  • p.Lys361= Single submitter dilated cardiomyopathy 1HH
  • p.Lys446= Single submitter myofibrillar myopathy 6
  • p.Lys497= Single submitter myofibrillar myopathy 6
  • p.Phe39= Single submitter dilated cardiomyopathy 1HH
  • p.Phe442= Single submitter dilated cardiomyopathy 1HH
  • p.Pro117= Single submitter dilated cardiomyopathy 1HH
  • p.Pro147= Single submitter Cardiovascular phenotype
  • p.Pro174= Single submitter dilated cardiomyopathy 1HH
  • p.Pro219= Single submitter Cardiovascular phenotype
  • p.Pro223= Single submitter dilated cardiomyopathy 1HH
  • p.Pro23= Single submitter myofibrillar myopathy 6
  • p.Pro234= Single submitter dilated cardiomyopathy 1HH
  • p.Pro24= Single submitter dilated cardiomyopathy 1HH
  • p.Pro245= Single submitter dilated cardiomyopathy 1HH
  • p.Pro286= Single submitter dilated cardiomyopathy 1HH
  • p.Pro290= Single submitter dilated cardiomyopathy 1HH
  • p.Pro32= Single submitter myofibrillar myopathy 6
  • p.Pro330= Single submitter dilated cardiomyopathy 1HH
  • p.Pro333= Single submitter myofibrillar myopathy 6
  • p.Pro334= Single submitter Cardiovascular phenotype
  • p.Pro350= Single submitter dilated cardiomyopathy 1HH
  • p.Pro355= Single submitter myofibrillar myopathy 6
  • p.Pro356= Single submitter myofibrillar myopathy 6
  • p.Pro358= Single submitter dilated cardiomyopathy 1HH
  • p.Pro37= Single submitter dilated cardiomyopathy 1HH
  • p.Pro376= Single submitter myofibrillar myopathy 6
  • p.Pro378= Single submitter Cardiovascular phenotype
  • p.Pro387= Single submitter myofibrillar myopathy 6
  • p.Pro410= Single submitter dilated cardiomyopathy 1HH
  • p.Pro417= Single submitter dilated cardiomyopathy 1HH
  • p.Pro420= Single submitter myofibrillar myopathy 6
  • p.Pro512= Single submitter myofibrillar myopathy 6
  • p.Pro512Ser Single submitter myofibrillar myopathy 6
  • p.Pro52= Single submitter dilated cardiomyopathy 1HH
  • p.Pro575= Single submitter myofibrillar myopathy 6
  • p.Pro91= Single submitter myofibrillar myopathy 6
  • p.Pro95= Single submitter dilated cardiomyopathy 1HH
  • p.Ser171= Single submitter myofibrillar myopathy 6
  • p.Ser173= Single submitter Cardiovascular phenotype
  • p.Ser181= Single submitter myofibrillar myopathy 6
  • p.Ser184= Single submitter dilated cardiomyopathy 1HH
  • p.Ser187= Single submitter Cardiovascular phenotype
  • p.Ser194= Single submitter Cardiovascular phenotype
  • p.Ser268= Single submitter myofibrillar myopathy 6
  • p.Ser274= Single submitter myofibrillar myopathy 6
  • p.Ser283= Single submitter myofibrillar myopathy 6
  • p.Ser352= Single submitter myofibrillar myopathy 6
  • p.Ser381= Single submitter
  • p.Ser513= Single submitter myofibrillar myopathy 6
  • p.Ser56= Single submitter Cardiovascular phenotype
  • p.Ser56Pro Single submitter Cardiovascular phenotype
  • p.Ser64= Single submitter myofibrillar myopathy 6
  • p.Ser7= Single submitter myofibrillar myopathy 6
  • p.Ter576= Single submitter dilated cardiomyopathy 1HH
  • p.Thr231= Single submitter myofibrillar myopathy 6
  • p.Thr307= Single submitter dilated cardiomyopathy 1HH
  • p.Thr489= Single submitter myofibrillar myopathy 6
  • p.Thr5= Single submitter myofibrillar myopathy 6
  • p.Thr547= Single submitter myofibrillar myopathy 6
  • p.Thr549= Single submitter Cardiovascular phenotype
  • p.Thr555= Single submitter dilated cardiomyopathy 1HH
  • p.Thr568= Single submitter myofibrillar myopathy 6
  • p.Tyr240= Single submitter Cardiovascular phenotype
  • p.Tyr247= Single submitter dilated cardiomyopathy 1HH
  • p.Val295= Single submitter myofibrillar myopathy 6
  • p.Val299= Single submitter dilated cardiomyopathy 1HH
  • p.Val341= Single submitter Cardiovascular phenotype
  • p.Val362= Single submitter myofibrillar myopathy 6
  • p.Val383= Single submitter myofibrillar myopathy 6
  • p.Val425= Single submitter dilated cardiomyopathy 1HH
  • p.Val484= Single submitter myofibrillar myopathy 6

Uncertain significance 723

Showing the top 300 by review status; the full set is in the sitemap.