Sugi Variant

Sugi Variant/TTN

TTN — 36161 ClinVar variants

All ClinVar germline TTN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6177 flagged for review →

260 Pathogenic · 421 Pathogenic/Likely pathogenic · 4794 Likely pathogenic · 3956 Conflicting · 385 Benign · 612 Benign/Likely benign · 14766 Likely benign · 10967 Uncertain significance

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

⚑ Evidence disagreements 6177

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 vs ClinVar 9

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 1220

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 1220

Predictors lean, ClinVar uncertain 4528

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 4528

Predictors split 420

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 420

All TTN variants

Pathogenic 260

Pathogenic/Likely pathogenic 421

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

Likely pathogenic 4794

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

  • p.Pro28604fs Multiple submitters autosomal recessive titinopathy
  • c.100171+1G>A Multiple submitters dilated cardiomyopathy 1G
  • c.100766-1G>T Multiple submitters dilated cardiomyopathy 1G
  • c.100766-2A>T Multiple submitters familial dilated cardiomyopathy
  • p.Lys34724fs Multiple submitters dilated cardiomyopathy 1G
  • c.11311+1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.15775+1G>A Multiple submitters autosomal recessive titinopathy
  • c.25639+2T>G Multiple submitters dilated cardiomyopathy 1G
  • c.25922-1G>C Multiple submitters dilated cardiomyopathy 1G
  • c.2775+1G>T Multiple submitters dilated cardiomyopathy 1G
  • c.31927+1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.32888-1del Multiple submitters dilated cardiomyopathy 1G
  • c.35797+1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.36119-1G>C Multiple submitters familial dilated cardiomyopathy
  • c.36202+1G>A Multiple submitters TTN-related disorder
  • c.36280+2T>A Multiple submitters dilated cardiomyopathy 1G
  • c.36532+2T>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.3729+1G>A Multiple submitters dilated cardiomyopathy 1G
  • c.39295+1G>C Multiple submitters dilated cardiomyopathy 1G
  • c.41609-2A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.42946+1G>T Multiple submitters dilated cardiomyopathy 1G
  • c.44913+1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.47269+2T>C Multiple submitters dilated cardiomyopathy 1G
  • c.47761-1G>A Multiple submitters dilated cardiomyopathy 1G
  • c.47875+1G>A Multiple submitters dilated cardiomyopathy 1G
  • c.48160+1G>A Multiple submitters myopathy, myofibrillar, 9, with early respiratory failure
  • c.48160+1G>C Multiple submitters autosomal recessive titinopathy
  • c.48313-1G>A Multiple submitters dilated cardiomyopathy 1G
  • c.48638+1G>C Multiple submitters dilated cardiomyopathy 1G
  • c.48760+1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.49949-2A>T Multiple submitters dilated cardiomyopathy 1G
  • c.51136+1G>A Multiple submitters dilated cardiomyopathy 1G
  • c.52706-1G>C Multiple submitters Cardiovascular phenotype
  • c.53881+1G>T Multiple submitters dilated cardiomyopathy
  • c.54811+1G>A Multiple submitters Cardiovascular phenotype
  • c.56051-1G>A Multiple submitters dilated cardiomyopathy 1G
  • c.56347+1G>A Multiple submitters dilated cardiomyopathy 1G
  • c.56647+1G>A Multiple submitters dilated cardiomyopathy 1G
  • c.57112-1G>A Multiple submitters Cardiovascular phenotype
  • c.58732+2T>C Multiple submitters Cardiovascular phenotype
  • c.64397-1G>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.66464-2A>G Multiple submitters Cardiovascular phenotype
  • c.669+1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.68329+2T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.69412+1G>A Multiple submitters dilated cardiomyopathy
  • p.Phe24449fs Multiple submitters Cardiovascular phenotype
  • c.80003_80028+4del Multiple submitters Cardiovascular phenotype
  • c.8117-1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.86822-1del Multiple submitters dilated cardiomyopathy 1G
  • p.Arg29279fs Multiple submitters Cardiovascular phenotype
  • c.88009+2T>G Multiple submitters dilated cardiomyopathy 1G
  • c.88895-1G>A Multiple submitters dilated cardiomyopathy 1G
  • c.91564+2T>C Multiple submitters dilated cardiomyopathy 1G
  • c.94828+1G>T Multiple submitters dilated cardiomyopathy 1G
  • c.95723-2A>C Multiple submitters Cardiovascular phenotype
  • c.99289+1G>A Multiple submitters dilated cardiomyopathy 1G
  • c.99865+1G>T Multiple submitters dilated cardiomyopathy 1G
  • p.Ala14213fs Multiple submitters dilated cardiomyopathy 1G
  • p.Ala16210fs Multiple submitters dilated cardiomyopathy 1G
  • p.Ala18013fs Multiple submitters dilated cardiomyopathy 1G
  • p.Ala18143fs Multiple submitters Cardiovascular phenotype
  • p.Ala18392fs Multiple submitters dilated cardiomyopathy 1G
  • p.Ala19403fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Ala20539fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Ala23879fs Multiple submitters dilated cardiomyopathy 1G
  • p.Ala23896delinsLysTer Multiple submitters Cardiovascular phenotype
  • p.Ala24463fs Multiple submitters dilated cardiomyopathy 1G
  • p.Ala25190fs Multiple submitters familial dilated cardiomyopathy
  • p.Ala25483fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Ala26998_Tyr26999insTer Multiple submitters Cardiovascular phenotype
  • p.Ala2770fs Multiple submitters Cardiovascular phenotype
  • p.Ala28497fs Multiple submitters dilated cardiomyopathy 1G
  • p.Ala29853fs Multiple submitters TTN-related disorder
  • p.Ala30898Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Ala33308fs Multiple submitters
  • p.Arg1003fs Multiple submitters Cardiovascular phenotype
  • p.Arg11810fs Multiple submitters dilated cardiomyopathy 1G
  • p.Arg13741fs Multiple submitters Cardiovascular phenotype
  • p.Arg14072Ter Multiple submitters Cardiovascular phenotype
  • p.Arg14079fs Multiple submitters Cardiovascular phenotype
  • p.Arg14317Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg14526Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Arg14960Ter Multiple submitters Cardiovascular phenotype
  • p.Arg15218_Val15219insTer Multiple submitters TTN-related disorder
  • p.Arg16167Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Arg16391Ter Multiple submitters TTN-related disorder
  • p.Arg17261Ter Multiple submitters TTN-related disorder
  • p.Arg17972Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Arg18218Ter Multiple submitters TTN-related disorder
  • p.Arg18658Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg20331fs Multiple submitters dilated cardiomyopathy 1G
  • p.Arg21440Ter Multiple submitters dilated cardiomyopathy
  • p.Arg21604Ter Multiple submitters Cardiovascular phenotype
  • p.Arg21639Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg22427fs Multiple submitters dilated cardiomyopathy 1G
  • p.Arg22881Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Arg2506Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Arg25365fs Multiple submitters dilated cardiomyopathy 1G
  • p.Arg25750Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Arg26064fs Multiple submitters Cardiovascular phenotype
  • p.Arg26192fs Multiple submitters dilated cardiomyopathy 1G
  • p.Arg26212Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Arg26547Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Arg27509Ter Multiple submitters Cardiovascular phenotype
  • p.Arg27776fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg27944fs Multiple submitters Cardiovascular phenotype
  • p.Arg27948fs Multiple submitters Cardiovascular phenotype
  • p.Arg28196fs Multiple submitters dilated cardiomyopathy 1G
  • p.Arg28644fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg29080fs Multiple submitters Cardiovascular phenotype
  • p.Arg29279fs Multiple submitters Cardiovascular phenotype
  • p.Arg29374fs Multiple submitters dilated cardiomyopathy 1G
  • p.Arg29707fs Multiple submitters dilated cardiomyopathy 1G
  • p.Arg29947Ter Multiple submitters Cardiovascular phenotype
  • p.Arg30300fs Multiple submitters Cardiovascular phenotype
  • p.Arg30398fs Multiple submitters Cardiovascular phenotype
  • p.Arg30664fs Multiple submitters TTN-related disorder
  • p.Arg31047Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg31061fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg31261Ter Multiple submitters Cardiovascular phenotype
  • p.Arg31285Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Arg3193fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg32545Ter Multiple submitters Cardiovascular phenotype
  • p.Arg33648fs Multiple submitters dilated cardiomyopathy 1G
  • p.Arg34091fs Multiple submitters dilated cardiomyopathy 1G
  • p.Arg34586fs Multiple submitters Cardiovascular phenotype
  • p.Arg34649Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Arg34698Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg34885Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg34943Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Arg35762Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg4249fs Multiple submitters dilated cardiomyopathy 1G
  • p.Arg4392Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg4749Ter Multiple submitters Cardiovascular phenotype
  • p.Arg6361_Tyr6362insTer Multiple submitters dilated cardiomyopathy 1G
  • p.Arg77Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Arg9955Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Asn15764fs Multiple submitters TTN-related disorder
  • p.Asn16529fs Multiple submitters Cardiovascular phenotype
  • p.Asn16666fs Multiple submitters dilated cardiomyopathy 1G
  • p.Asn18739delinsIleTer Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Asn20321fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Asn22786fs Multiple submitters dilated cardiomyopathy
  • p.Asn23154fs Multiple submitters Cardiovascular phenotype
  • p.Asn24503fs Multiple submitters dilated cardiomyopathy 1G
  • p.Asn25462fs Multiple submitters Cardiovascular phenotype
  • p.Asn25635fs Multiple submitters Cardiovascular phenotype
  • p.Asn25658fs Multiple submitters TTN-related disorder
  • p.Asn26382fs Multiple submitters dilated cardiomyopathy 1G
  • p.Asn27186fs Multiple submitters dilated cardiomyopathy 1G
  • p.Asn27253fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Asn28814fs Multiple submitters Cardiovascular phenotype
  • p.Asn29099fs Multiple submitters Cardiovascular phenotype
  • p.Asn29172fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Asn31692fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Asn32651Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Asn34020fs Multiple submitters Cardiovascular phenotype
  • p.Asp14505fs Multiple submitters cardiomyopathy
  • p.Asp15506fs Multiple submitters Cardiovascular phenotype
  • p.Asp15822Ter Multiple submitters Cardiovascular phenotype
  • p.Asp16111_Leu16112insTer Multiple submitters Cardiovascular phenotype
  • p.Asp17021fs Multiple submitters Cardiovascular phenotype
  • p.Asp17263fs Multiple submitters TTN-related disorder
  • p.Asp17805fs Multiple submitters Cardiovascular phenotype
  • p.Asp18326fs Multiple submitters Cardiovascular phenotype
  • p.Asp1892fs Multiple submitters Cardiovascular phenotype
  • p.Asp19431Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Asp20713fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Asp21900fs Multiple submitters dilated cardiomyopathy 1G
  • p.Asp22082fs Multiple submitters dilated cardiomyopathy 1G
  • p.Asp24319fs Multiple submitters dilated cardiomyopathy 1G
  • p.Asp24350delinsLeuTer Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Asp26427fs Multiple submitters dilated cardiomyopathy 1G
  • p.Asp26483fs Multiple submitters Cardiovascular phenotype
  • p.Asp26710fs Multiple submitters dilated cardiomyopathy 1G
  • p.Asp28805fs Multiple submitters Cardiovascular phenotype
  • p.Asp29334fs Multiple submitters dilated cardiomyopathy 1G
  • p.Asp29660fs Multiple submitters dilated cardiomyopathy 1G
  • p.Asp29974fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Asp29996fs Multiple submitters Cardiovascular phenotype
  • p.Asp30746fs Multiple submitters dilated cardiomyopathy 1G
  • p.Asp30885fs Multiple submitters dilated cardiomyopathy 1G
  • p.Asp33899Ter Multiple submitters Cardiovascular phenotype
  • p.Asp5900Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Cys15363fs Multiple submitters dilated cardiomyopathy 1G
  • p.Cys15714_Glu15715delinsTer Multiple submitters dilated cardiomyopathy 1G
  • p.Cys15714Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Cys16368fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Cys16500Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Cys18334fs Multiple submitters Cardiovascular phenotype
  • p.Cys19201Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Cys23097Ter Multiple submitters Cardiovascular phenotype
  • p.Cys24444fs Multiple submitters Cardiovascular phenotype
  • p.Cys25445fs Multiple submitters dilated cardiomyopathy 1G
  • p.Cys28085Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Cys28570fs Multiple submitters Cardiovascular phenotype
  • p.Cys3903Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln1073Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln10889Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln1222Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln14070Ter Multiple submitters Cardiovascular phenotype
  • p.Gln14214fs Multiple submitters Cardiovascular phenotype
  • p.Gln14654Ter Multiple submitters Cardiovascular phenotype
  • p.Gln15257Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln15836Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln15877Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln16699Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln16823fs Multiple submitters dilated cardiomyopathy 1G
  • p.Gln17219delinsSerLysArgThrTer Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gln17320Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln17659Ter Multiple submitters Cardiovascular phenotype
  • p.Gln18385Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln18467Ter Multiple submitters Cardiovascular phenotype
  • p.Gln18801Ter Multiple submitters Cardiovascular phenotype
  • p.Gln19923Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gln20767Ter Multiple submitters Cardiovascular phenotype
  • p.Gln21124Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln21813Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln22227Ter Multiple submitters Cardiovascular phenotype
  • p.Gln22507Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gln23127Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln23280Ter Multiple submitters familial dilated cardiomyopathy
  • p.Gln24267Ter Multiple submitters dilated cardiomyopathy
  • p.Gln24584Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln25144Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln25664Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln25929Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln25962fs Multiple submitters dilated cardiomyopathy 1G
  • p.Gln26540Ter Multiple submitters Cardiovascular phenotype
  • p.Gln27067Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln27088fs Multiple submitters dilated cardiomyopathy 1G
  • p.Gln27239Ter Multiple submitters Cardiovascular phenotype
  • p.Gln27396fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gln27627Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gln27630Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gln27667Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln276Ter Multiple submitters myopathy, myofibrillar, 9, with early respiratory failure
  • p.Gln28126Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gln29402Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln29693Ter Multiple submitters Cardiovascular phenotype
  • p.Gln30075Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln30933Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gln31113Ter Multiple submitters Cardiovascular phenotype
  • p.Gln31722Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln32280Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln32439Ter Multiple submitters Cardiovascular phenotype
  • p.Gln3251Ter Multiple submitters Cardiovascular phenotype
  • p.Gln32530fs Multiple submitters dilated cardiomyopathy 1G
  • p.Gln32605Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gln3277Ter Multiple submitters Cardiovascular phenotype
  • p.Gln32975Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln34602Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gln4090Ter Multiple submitters TTN-related disorder
  • p.Gln4248Ter Multiple submitters Cardiovascular phenotype
  • p.Gln4253Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Gln4258Ter Multiple submitters TTN-related disorder
  • p.Gln4656Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Glu11179fs Multiple submitters dilated cardiomyopathy 1G
  • p.Glu13239Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Glu13506Ter Multiple submitters Cardiovascular phenotype
  • p.Glu13707fs Multiple submitters Cardiovascular phenotype
  • p.Glu13861Ter Multiple submitters Cardiovascular phenotype
  • p.Glu15459fs Multiple submitters Cardiovascular phenotype
  • p.Glu15557fs Multiple submitters Cardiovascular phenotype
  • p.Glu15604Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Glu15828_Tyr15829insTer Multiple submitters Cardiovascular phenotype
  • p.Glu15901Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Glu15937fs Multiple submitters familial dilated cardiomyopathy
  • p.Glu16077fs Multiple submitters autosomal recessive titinopathy
  • p.Glu16254Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Glu16620Ter Multiple submitters Cardiovascular phenotype
  • p.Glu16831delinsLysTer Multiple submitters Cardiovascular phenotype
  • p.Glu16923Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Glu17217Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Glu17291fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Glu17311Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Glu17440fs Multiple submitters dilated cardiomyopathy 1G
  • p.Glu1756fs Multiple submitters dilated cardiomyopathy 1G
  • p.Glu17873fs Multiple submitters Cardiovascular phenotype
  • p.Glu17910Ter Multiple submitters hypertrophic cardiomyopathy 9
  • p.Glu18374fs Multiple submitters Cardiovascular phenotype
  • p.Glu18377fs Multiple submitters dilated cardiomyopathy 1G
  • p.Glu18546Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Glu18629fs Multiple submitters Cardiovascular phenotype
  • p.Glu18697Ter Multiple submitters Cardiovascular phenotype
  • p.Glu18826fs Multiple submitters Cardiovascular phenotype
  • p.Glu19042_Val19043insTer Multiple submitters Cardiovascular phenotype
  • p.Glu19130Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Glu19850fs Multiple submitters Cardiovascular phenotype
  • p.Glu20285fs Multiple submitters Cardiovascular phenotype
  • p.Glu20751fs Multiple submitters dilated cardiomyopathy 1G
  • p.Glu20979Ter Multiple submitters familial dilated cardiomyopathy
  • p.Glu21366fs Multiple submitters TTN-related disorder
  • p.Glu22344fs Multiple submitters Cardiovascular phenotype
  • p.Glu22781fs Multiple submitters Cardiovascular phenotype
  • p.Glu22810fs Multiple submitters Cardiovascular phenotype
  • p.Glu22913Ter Multiple submitters dilated cardiomyopathy 1G
  • p.Glu23206Ter Multiple submitters Cardiovascular phenotype
  • p.Glu23339fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Glu23404fs Multiple submitters Cardiovascular phenotype

Conflicting classifications of pathogenicity 3956

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

  • p.Ile32592= Single submitter cardiomyopathy
  • p.Ile28483= Single submitter Cardiovascular phenotype
  • p.Thr22124= Single submitter Cardiovascular phenotype
  • p.Gly18239= Single submitter dilated cardiomyopathy 1G
  • c.10114+5G>A Single submitter TTN-related myopathy
  • c.10115-4G>A Single submitter Cardiovascular phenotype
  • c.10303+2T>C Single submitter TTN-related disorder
  • c.106374+1del Single submitter dilated cardiomyopathy 1G
  • c.106532-2A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.10679-10G>C Single submitter dilated cardiomyopathy 1G
  • c.107223+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.107377+14C>T Single submitter dilated cardiomyopathy 1G
  • c.107377+5G>A Single submitter dilated cardiomyopathy 1G
  • c.11254+1G>C Single submitter early-onset myopathy with fatal cardiomyopathy
  • c.11254+2T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.11311+1405C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.11311+1856C>T Single submitter
  • c.11311+2359G>A Single submitter
  • c.11311+2929G>A Single submitter
  • c.11311+3236G>A Single submitter
  • c.11311+3397G>C Single submitter
  • c.11311+4594C>T Single submitter TTN-related disorder
  • c.11312-4416G>C Single submitter
  • c.11312-8C>A Single submitter
  • c.1245+3A>G Single submitter hypertrophic cardiomyopathy 9
  • c.1246-5T>C Single submitter dilated cardiomyopathy 1G
  • c.13282+23498dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.1398+4C>T Single submitter hypertrophic cardiomyopathy 9
  • c.1398+5G>A Single submitter Cardiovascular phenotype
  • c.1398+9G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.1399-3C>T Single submitter Cardiovascular phenotype
  • c.14093-1G>A Single submitter Cardiovascular phenotype
  • c.14372-2A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.15496+1G>T Single submitter TTN-related myopathy
  • c.15497-11T>G Single submitter dilated cardiomyopathy 1G
  • c.15497-2A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.15497-7T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.15497-8T>C Single submitter dilated cardiomyopathy 1G
  • c.15775+15A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.15775+9A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.15776-1G>T Single submitter dilated cardiomyopathy 1G
  • c.15776-2A>G Single submitter dilated cardiomyopathy 1G
  • c.16621+1G>T Single submitter dilated cardiomyopathy 1G
  • c.16621+7A>T Single submitter dilated cardiomyopathy 1G
  • c.17461+1G>T Single submitter dilated cardiomyopathy 1G
  • c.17740+7A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.1800+1G>A Single submitter muscular dystrophy
  • c.18028+1G>A Single submitter dilated cardiomyopathy 1G
  • c.18028+2T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.18029-20_18029-19delinsCC Single submitter dilated cardiomyopathy 1G
  • c.1938+1G>T Single submitter Cardiovascular phenotype
  • c.19426+2T>A Single submitter dilated cardiomyopathy 1G
  • c.19715-4A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.20836+2T>C Single submitter dilated cardiomyopathy 1G
  • c.20966-11dup Single submitter dilated cardiomyopathy 1G
  • c.21403+2T>G Single submitter dilated cardiomyopathy 1G
  • c.21404-8C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.21962-6C>T Single submitter cardiomyopathy
  • c.22240+14A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.22240+7A>C Single submitter dilated cardiomyopathy 1G
  • c.22241-14A>G Single submitter dilated cardiomyopathy 1G
  • c.22241-5T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.22528+12C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.22529-7C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.22817-15T>G Single submitter dilated cardiomyopathy 1G
  • c.23098+1G>T Single submitter hypertrophic cardiomyopathy 9
  • c.23377+2T>C Single submitter dilated cardiomyopathy 1G
  • c.23378-10C>A Single submitter dilated cardiomyopathy 1G
  • c.2370+9A>G Single submitter early-onset myopathy with fatal cardiomyopathy
  • c.2371-1G>A Single submitter Cardiovascular phenotype
  • c.23939-13C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.24226+1G>A Single submitter dilated cardiomyopathy 1G
  • c.24506-8C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.2494-5T>C Single submitter tibial muscular dystrophy
  • c.25063+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.25064-4A>G Single submitter dilated cardiomyopathy 1G
  • c.25639+1G>T Single submitter dilated cardiomyopathy 1G
  • c.25640-4A>G Single submitter tibial muscular dystrophy
  • c.25640-8T>C Single submitter dilated cardiomyopathy 1G
  • c.26482+1G>C Single submitter dilated cardiomyopathy 1G
  • c.26762-10_26762-9insTTGTTTTGTA Single submitter dilated cardiomyopathy 1G
  • c.26762-39TTTGT[3] Single submitter dilated cardiomyopathy 1G
  • c.26762-39TTTGT[4] Single submitter dilated cardiomyopathy 1G
  • c.26762-9A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.27049+10C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.27328+1del Single submitter dilated cardiomyopathy 1G
  • c.27328+5G>A Single submitter dilated cardiomyopathy 1G
  • c.27329-1del Single submitter TTN-related myopathy
  • c.27329-1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.2776-14T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.2776-7_2776-6del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.27886+3G>A Single submitter dilated cardiomyopathy 1G
  • c.28175-10C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.28462+11T>C Single submitter tibial muscular dystrophy
  • c.28462+1G>T Single submitter dilated cardiomyopathy 1G
  • c.28463-14G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.28754-11T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.28754-7A>T Single submitter dilated cardiomyopathy 1G
  • c.29042-2A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.296-14T>C Single submitter Cardiovascular phenotype
  • c.296-5C>T Single submitter dilated cardiomyopathy 1G
  • c.29962+1G>T Single submitter dilated cardiomyopathy 1G
  • c.29963-13A>G Single submitter dilated cardiomyopathy 1G
  • c.30223+1G>A Single submitter dilated cardiomyopathy 1G
  • c.30224-7T>G Single submitter dilated cardiomyopathy 1G
  • c.30433+11T>G Single submitter dilated cardiomyopathy 1G
  • c.30433+15A>T Single submitter dilated cardiomyopathy 1G
  • c.30434-15G>A Single submitter dilated cardiomyopathy 1G
  • c.30511+1G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.30511+3G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.30599-1G>A Single submitter dilated cardiomyopathy 1G
  • c.30682+7T>C Single submitter dilated cardiomyopathy 1G
  • c.30683-18_30683-9del Single submitter dilated cardiomyopathy 1G
  • c.30683-1G>T Single submitter
  • c.30683-5_30683-3del Single submitter
  • c.30754+1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.30803-15C>T Single submitter dilated cardiomyopathy 1G
  • c.30803-2A>G Single submitter dilated cardiomyopathy 1G
  • c.31208-13G>A Single submitter early-onset myopathy with fatal cardiomyopathy
  • c.31348+14C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.31348+1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.31349-4A>T Single submitter dilated cardiomyopathy 1G
  • c.31426+1G>C Single submitter autosomal recessive titinopathy
  • c.31427-1G>T Single submitter dilated cardiomyopathy 1G
  • c.31762+4C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.31762+5_31762+7del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.31763-1G>A Single submitter dilated cardiomyopathy 1G
  • c.31846+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.31846+5A>G Single submitter
  • c.32011+15T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.32011+1G>T Single submitter dilated cardiomyopathy 1G
  • c.32095+1G>A Single submitter dilated cardiomyopathy 1G
  • c.32197+11G>A Single submitter dilated cardiomyopathy 1G
  • c.32198-10T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.32198-9C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.32392+1G>A Single submitter dilated cardiomyopathy 1G
  • c.32392+8G>A Single submitter dilated cardiomyopathy 1G
  • c.32470+1G>T Single submitter dilated cardiomyopathy 1G
  • c.32470+3A>G Single submitter dilated cardiomyopathy 1G
  • c.32470+4T>C Single submitter
  • c.32471-1G>A Single submitter TTN-related myopathy
  • c.32471-6C>T Single submitter dilated cardiomyopathy 1G
  • c.32554+1G>C Single submitter dilated cardiomyopathy 1G
  • c.32554+5_32554+6del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.32555-12G>T Single submitter dilated cardiomyopathy 1G
  • c.32555-2A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.32806+5A>G Single submitter
  • c.32806+7T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.32887+1G>T Single submitter dilated cardiomyopathy 1G
  • c.33172+4G>A Single submitter
  • c.33173-1G>A Single submitter dilated cardiomyopathy 1G
  • c.33173-4G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.33340+5A>C Single submitter dilated cardiomyopathy 1G
  • c.33418+12C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.33418+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.33418+2T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.33419-2A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.33419-9T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.33580+1G>A Single submitter dilated cardiomyopathy 1G
  • c.33742+1G>T Single submitter dilated cardiomyopathy 1G
  • c.33743-14T>G Single submitter dilated cardiomyopathy 1G
  • c.33743-1G>C Single submitter dilated cardiomyopathy 1G
  • c.3380+12G>T Single submitter dilated cardiomyopathy 1G
  • c.33826+1G>A Single submitter dilated cardiomyopathy 1G
  • c.33826+2T>C Single submitter dilated cardiomyopathy 1G
  • c.33826+4C>T Single submitter dilated cardiomyopathy 1G
  • c.33826+7G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.33827-8C>T Single submitter dilated cardiomyopathy 1G
  • c.33911-6_33911-5insG Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.33994+9A>C Single submitter dilated cardiomyopathy 1G
  • c.33995-5T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.34291+8A>G Single submitter
  • c.34379-15A>G Single submitter myopathy, myofibrillar, 9, with early respiratory failure
  • c.34379-1G>C Single submitter dilated cardiomyopathy 1G
  • c.34453+6del Single submitter cardiomyopathy
  • c.34612+1G>A Single submitter Cardiovascular phenotype
  • c.34708+9G>T Single submitter dilated cardiomyopathy 1G
  • c.34709-1G>A Single submitter Cardiovascular phenotype
  • c.34786+1G>A Single submitter dilated cardiomyopathy 1G
  • c.34786+1G>T Single submitter hypertrophic cardiomyopathy 9
  • c.34787-12A>G Single submitter dilated cardiomyopathy 1G
  • c.34787-5T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.34855+1G>A Single submitter dilated cardiomyopathy 1G
  • c.34930+2T>C Single submitter dilated cardiomyopathy 1G
  • c.34931-10G>A Single submitter dilated cardiomyopathy 1G
  • c.3524-3T>C Single submitter Cardiovascular phenotype
  • c.35308+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.35308+1G>T Single submitter dilated cardiomyopathy 1G
  • c.35546-7T>C Single submitter dilated cardiomyopathy 1G
  • c.35713+1del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.35713+1G>A Single submitter TTN-related myopathy
  • c.35875+1G>C Single submitter dilated cardiomyopathy 1G
  • c.36043+5G>A Single submitter dilated cardiomyopathy 1G
  • c.36202+1G>T Single submitter hypertrophic cardiomyopathy
  • c.36267_36280+16del Single submitter familial dilated cardiomyopathy
  • c.36364+1G>C Single submitter dilated cardiomyopathy 1G
  • c.36365-1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.36448+2T>C Single submitter dilated cardiomyopathy 1G
  • c.3730-5C>T Single submitter dilated cardiomyopathy 1G
  • c.37873+4T>G Single submitter
  • c.38122+2T>C Single submitter TTN-related disorder
  • c.38546-2del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.39044-15C>T Single submitter dilated cardiomyopathy 1G
  • c.39044-9T>A Single submitter cardiomyopathy
  • c.39128-14T>C Single submitter dilated cardiomyopathy 1G
  • c.39211+6C>T Single submitter dilated cardiomyopathy 1G
  • c.39463+2T>C Single submitter dilated cardiomyopathy 1G
  • c.39464-15T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.39548-8A>G Single submitter dilated cardiomyopathy 1G
  • c.39625+1G>C Single submitter dilated cardiomyopathy 1G
  • c.39626-10A>G Single submitter dilated cardiomyopathy 1G
  • c.39626-8C>A Single submitter
  • c.3963+1G>T Single submitter TTN-related disorder
  • c.39709+1G>A Single submitter autosomal recessive titinopathy
  • c.39709+7G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.39709+9G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.39817+1G>C Single submitter dilated cardiomyopathy 1G
  • c.39818-9T>C Single submitter dilated cardiomyopathy 1G
  • c.39895+1G>A Single submitter dilated cardiomyopathy 1G
  • c.39895+1G>C Single submitter dilated cardiomyopathy 1G
  • c.39895+1G>T Single submitter dilated cardiomyopathy 1G
  • c.39895+7A>G Single submitter dilated cardiomyopathy 1G
  • c.40141+6C>T Single submitter dilated cardiomyopathy 1G
  • c.40222+2TA[9] Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.40408+3dup Single submitter dilated cardiomyopathy 1G
  • c.40409-1G>A Single submitter familial dilated cardiomyopathy
  • c.40558+1G>A Single submitter Cardiovascular phenotype
  • c.40558+1G>T Single submitter familial dilated cardiomyopathy
  • c.40559-8C>G Single submitter dilated cardiomyopathy 1G
  • c.40634-1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.40634-5T>C Single submitter Cardiovascular phenotype
  • c.40634-9A>G Single submitter dilated cardiomyopathy 1G
  • c.40723+1del Single submitter TTN-related disorder
  • c.40723+1G>T Single submitter Cardiovascular phenotype
  • c.40723+8T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.40786+3G>A Single submitter tibial muscular dystrophy
  • c.40877-14T>C Single submitter dilated cardiomyopathy 1G
  • c.40877-7A>G Single submitter dilated cardiomyopathy 1G
  • c.40927+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.41329+2T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.41330-7T>A Single submitter dilated cardiomyopathy 1G
  • c.41609-2A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.42415+7G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.43086+7C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.43087-9T>C Single submitter dilated cardiomyopathy 1G
  • c.43480+2T>C Single submitter Cardiovascular phenotype
  • c.43747+18T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.43747+1G>T Single submitter dilated cardiomyopathy
  • c.43748-1G>A Single submitter dilated cardiomyopathy 1G
  • c.43748-4G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.43748-7C>T Single submitter dilated cardiomyopathy 1G
  • c.44154+6G>T Single submitter dilated cardiomyopathy 1G
  • c.44281+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.44282-6G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.44425-8A>C Single submitter dilated cardiomyopathy 1G
  • c.44815+14T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.44815+1G>A Single submitter early-onset myopathy with fatal cardiomyopathy
  • c.44815+7A>G Single submitter cardiomyopathy
  • c.44816-1G>A Single submitter Cardiovascular phenotype
  • c.44913+10dup Single submitter dilated cardiomyopathy 1G
  • c.45089_45091delAAG Single submitter Cardiovascular phenotype
  • c.45617-14T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.45895+1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.46696+1G>A Single submitter dilated cardiomyopathy 1G
  • c.46696+1G>T Single submitter Cardiovascular phenotype
  • c.47572+1G>A Single submitter dilated cardiomyopathy 1G
  • c.47761-15_47761-12del Single submitter dilated cardiomyopathy 1G
  • c.47875+12T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.48161-4del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.48461-11A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.49345+2T>C Single submitter Cardiovascular phenotype
  • c.49533-13G>A Single submitter dilated cardiomyopathy 1G
  • c.49648+13T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.49649-11T>C Single submitter dilated cardiomyopathy 1G
  • c.49948+2_49948+10del Single submitter Cardiovascular phenotype
  • c.49949-1G>T Single submitter Cardiovascular phenotype
  • c.50249-15T>G Single submitter dilated cardiomyopathy 1G
  • c.50355-5A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.50552-1G>A Single submitter Cardiovascular phenotype
  • c.50857+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.50858-3C>T Single submitter Cardiovascular phenotype
  • c.51436+1G>A Single submitter dilated cardiomyopathy 1G
  • c.51437-1G>C Single submitter dilated cardiomyopathy 1G
  • c.51437-9G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.51739+1G>C Single submitter TTN-related disorder
  • c.52102+1G>A Single submitter Cardiovascular phenotype
  • c.52103-1G>A Single submitter Cardiovascular phenotype
  • c.52406-12dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.52406-2A>C Single submitter Cardiovascular phenotype
  • c.52406-6T>A Single submitter dilated cardiomyopathy 1G
  • c.53287+1G>A Single submitter dilated cardiomyopathy 1G
  • c.53881+4C>T Single submitter Cardiovascular phenotype
  • c.53881+5G>A Single submitter Cardiovascular phenotype
  • c.53881+5G>T Single submitter dilated cardiomyopathy 1G
  • c.53882-5T>G Single submitter dilated cardiomyopathy 1G
  • c.54381+6C>G Single submitter myopathy, myofibrillar, 9, with early respiratory failure
  • c.54811+10C>T Single submitter dilated cardiomyopathy 1G
  • c.54811+15G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.54811+8T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.55303-1G>A Single submitter TTN-related disorder

Benign 385

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

Benign/Likely benign 612

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

  • c.100766-10dup Multiple submitters myopathy, myofibrillar, 9, with early respiratory failure
  • c.100766-11_100766-10del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.100766-11T>C Multiple submitters tibial muscular dystrophy
  • c.100766-9C>T Multiple submitters dilated cardiomyopathy 1G
  • c.100766-9dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.107681-18del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.107681-18dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.11255-17_11255-16del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.11311+1070_11311+1071insG Multiple submitters
  • c.11311+1079_11311+1080del Multiple submitters
  • c.11311+1080del Multiple submitters dilated cardiomyopathy 1G
  • c.11312-3515T>A Multiple submitters
  • c.11312-5260C>T Multiple submitters
  • c.11312-5269A>G Multiple submitters
  • c.1246-16G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.1398+16C>T Multiple submitters dilated cardiomyopathy 1G
  • c.1398+18A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.1398+8C>T Multiple submitters dilated cardiomyopathy 1G
  • c.14092+20del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.14935+9C>T Multiple submitters dilated cardiomyopathy 1G
  • c.15218-17C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.1537-4G>A Multiple submitters Cardiovascular phenotype
  • c.16055-9A>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.17740+17T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.17741-9A>G Multiple submitters dilated cardiomyopathy 1G
  • c.1938+10G>C Multiple submitters dilated cardiomyopathy 1G
  • c.20836+18C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.24227-15C>T Multiple submitters dilated cardiomyopathy 1G
  • c.24505+13C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.24506-16T>C Multiple submitters dilated cardiomyopathy 1G
  • c.2494-17A>C Multiple submitters dilated cardiomyopathy 1G
  • c.25064-11del Multiple submitters dilated cardiomyopathy 1G
  • c.25351+13C>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.25921+20G>A Multiple submitters dilated cardiomyopathy 1G
  • c.26201-20C>A Multiple submitters dilated cardiomyopathy 1G
  • c.26762-39TTTGT[10] Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.26762-39TTTGT[12] Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.26762-39TTTGT[5] Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.26762-39TTTGT[7] Multiple submitters dilated cardiomyopathy 1G
  • c.26762-39TTTGT[9] Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.26780-19dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.27050-9del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.2775+18C>T Multiple submitters dilated cardiomyopathy 1G
  • c.2775+4G>A Multiple submitters Cardiovascular phenotype
  • c.28463-24AT[2] Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.29605-12T>C Multiple submitters dilated cardiomyopathy 1G
  • c.30224-8T>G Multiple submitters dilated cardiomyopathy 1G
  • c.30512-10del Multiple submitters dilated cardiomyopathy 1G
  • c.30512-19_30512-18dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.30598+15C>T Multiple submitters dilated cardiomyopathy 1G
  • c.30683-17_30683-8dup Multiple submitters TTN-related myopathy
  • c.30683-17dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.30683-18C>T Multiple submitters dilated cardiomyopathy 1G
  • c.30683-19del Multiple submitters dilated cardiomyopathy 1G
  • c.30683-19dup Multiple submitters dilated cardiomyopathy 1G
  • c.30683-21_30683-19del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.30683-28_30683-14del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.30683-28_30683-16del Multiple submitters tibial muscular dystrophy
  • c.30683-3del Multiple submitters cardiomyopathy
  • c.30683-4_30683-3del Multiple submitters dilated cardiomyopathy 1G
  • c.31847-17A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.32011+10C>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.32393-12A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.32555-6T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.32722+9G>A Multiple submitters dilated cardiomyopathy 1G
  • c.32807-10T>A Multiple submitters dilated cardiomyopathy 1G
  • c.33172+15del Multiple submitters dilated cardiomyopathy 1G
  • c.33172+15dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.33340+10T>C Multiple submitters dilated cardiomyopathy 1G
  • c.33581-18T>C Multiple submitters dilated cardiomyopathy 1G
  • c.33664+20C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.33742+11A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.33742+8C>T Multiple submitters dilated cardiomyopathy 1G
  • c.33826+17T>A Multiple submitters dilated cardiomyopathy 1G
  • c.34379-14T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.34453+12C>A Multiple submitters dilated cardiomyopathy 1G
  • c.34453+14G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.34708+8C>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.34787-19del Multiple submitters tibial muscular dystrophy
  • c.34856-17A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.35228-12A>G Multiple submitters
  • c.35471-10A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.35777-16dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.35875+8T>G Multiple submitters dilated cardiomyopathy 1G
  • c.35876-9T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.36701-16A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.37202-4T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.38297-9T>A Multiple submitters dilated cardiomyopathy 1G
  • c.38708-4T>C Multiple submitters dilated cardiomyopathy 1G
  • c.38791+12T>C Multiple submitters dilated cardiomyopathy 1G
  • c.39127+10A>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.39212-9C>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.39296-13C>T Multiple submitters early-onset myopathy with fatal cardiomyopathy
  • c.39709+6C>T Multiple submitters dilated cardiomyopathy 1G
  • c.40222+2TA[10] Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.40222+2TA[12] Multiple submitters dilated cardiomyopathy 1G
  • c.40223-15C>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.40408+7_40408+10dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.40408+8del Multiple submitters cardiomyopathy
  • c.40634-15_40634-11del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.40786+15C>A Multiple submitters dilated cardiomyopathy 1G
  • c.40927+16C>T Multiple submitters early-onset myopathy with fatal cardiomyopathy
  • c.41885-16T>C Multiple submitters dilated cardiomyopathy 1G
  • c.42024+6T>C Multiple submitters dilated cardiomyopathy 1G
  • c.42683-16T>C Multiple submitters dilated cardiomyopathy 1G
  • c.43481-10_43481-9del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.44014+19G>C Multiple submitters dilated cardiomyopathy 1G
  • c.44548+9A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.46697-12C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.46967-19C>G Multiple submitters dilated cardiomyopathy 1G
  • c.47876-18A>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.48460+8C>T Multiple submitters dilated cardiomyopathy 1G
  • c.50551+20C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.51739+14C>A Multiple submitters dilated cardiomyopathy 1G
  • c.52406-16G>A Multiple submitters dilated cardiomyopathy 1G
  • c.54812-14del Multiple submitters dilated cardiomyopathy 1G
  • c.54812-14dup Multiple submitters dilated cardiomyopathy 1G
  • c.54812-5A>G Multiple submitters Cardiovascular phenotype
  • c.56051-12T>A Multiple submitters dilated cardiomyopathy 1G
  • c.56963-19_56963-18delinsTC Multiple submitters dilated cardiomyopathy 1G
  • p.Arg19155Lys Multiple submitters Cardiovascular phenotype
  • c.57847+18_57847+19dup Multiple submitters dilated cardiomyopathy 1G
  • c.57847+19del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.57847+7dup Multiple submitters dilated cardiomyopathy 1G
  • c.58433-16dup Multiple submitters dilated cardiomyopathy 1G
  • c.58433-7del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.64396+14G>A Multiple submitters dilated cardiomyopathy 1G
  • c.65275+20del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.66160+16G>A Multiple submitters dilated cardiomyopathy 1G
  • c.670-13dup Multiple submitters dilated cardiomyopathy 1G
  • c.67348+11G>C Multiple submitters dilated cardiomyopathy 1G
  • c.68527+15G>A Multiple submitters dilated cardiomyopathy 1G
  • c.69412+10G>C Multiple submitters dilated cardiomyopathy 1G
  • c.88895-18C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.8902+16del Multiple submitters tibial muscular dystrophy
  • c.8902+16T>A Multiple submitters dilated cardiomyopathy 1G
  • c.91565-13C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.91852+8T>A Multiple submitters dilated cardiomyopathy 1G
  • c.92152+11G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.9472-19del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.9472-20_9472-19dup Multiple submitters dilated cardiomyopathy 1G
  • c.96904+8C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.9703+17T>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.98098+11T>A Multiple submitters dilated cardiomyopathy 1G
  • c.-108G>A Multiple submitters early-onset myopathy with fatal cardiomyopathy
  • c.*664G>T Multiple submitters dilated cardiomyopathy 1G
  • p.13244IAPEEE[1] Multiple submitters Cardiovascular phenotype
  • p.Ala1081= Multiple submitters Cardiovascular phenotype
  • p.Ala10915Pro Multiple submitters Cardiovascular phenotype
  • p.Ala1223Val Multiple submitters Cardiovascular phenotype
  • p.Ala13230= Multiple submitters dilated cardiomyopathy 1G
  • p.Ala13836= Multiple submitters Cardiovascular phenotype
  • p.Ala13937Val Multiple submitters Cardiovascular phenotype
  • p.Ala142= Multiple submitters Cardiovascular phenotype
  • p.Ala15246= Multiple submitters Cardiovascular phenotype
  • p.Ala15565Ser Multiple submitters Cardiovascular phenotype
  • p.Ala17161Val Multiple submitters Cardiovascular phenotype
  • p.Ala17228= Multiple submitters Cardiovascular phenotype
  • p.Ala18035= Multiple submitters Cardiovascular phenotype
  • p.Ala2054= Multiple submitters Cardiovascular phenotype
  • p.Ala21839Val Multiple submitters Cardiovascular phenotype
  • p.Ala22234= Multiple submitters Cardiovascular phenotype
  • p.Ala22416Pro Multiple submitters Cardiovascular phenotype
  • p.Ala24302= Multiple submitters Cardiovascular phenotype
  • p.Ala27320Thr Multiple submitters Cardiovascular phenotype
  • p.Ala27564= Multiple submitters hypertrophic cardiomyopathy 9
  • p.Ala27600Thr Multiple submitters Cardiovascular phenotype
  • p.Ala29469= Multiple submitters tibial muscular dystrophy
  • p.Ala31488= Multiple submitters Cardiovascular phenotype
  • p.Ala31503= Multiple submitters dilated cardiomyopathy 1G
  • p.Ala32320= Multiple submitters Cardiovascular phenotype
  • p.Ala35263Phe Multiple submitters Cardiovascular phenotype
  • p.Ala4319Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Ala4429= Multiple submitters Cardiovascular phenotype
  • p.Ala4545Thr Multiple submitters
  • p.Ala4900Thr Multiple submitters Cardiovascular phenotype
  • p.Ala4966= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Ala5997Thr Multiple submitters Cardiovascular phenotype
  • p.Ala8355Glu Multiple submitters Cardiovascular phenotype
  • p.Ala8378= Multiple submitters dilated cardiomyopathy 1G
  • p.Arg10883Lys Multiple submitters Cardiovascular phenotype
  • p.Arg11096His Multiple submitters Cardiovascular phenotype
  • p.Arg11657His Multiple submitters Cardiovascular phenotype
  • p.Arg14496= Multiple submitters Cardiovascular phenotype
  • p.Arg14535Cys Multiple submitters Cardiovascular phenotype
  • p.Arg15908His Multiple submitters Cardiovascular phenotype
  • p.Arg18070= Multiple submitters Cardiovascular phenotype
  • p.Arg18343= Multiple submitters Cardiovascular phenotype
  • p.Arg19155Lys Multiple submitters ventricular fibrillation ⚠
  • p.Arg19228His Multiple submitters Cardiovascular phenotype
  • p.Arg19257Gln Multiple submitters Cardiovascular phenotype
  • p.Arg19479His Multiple submitters Cardiovascular phenotype
  • p.Arg20717Gly Multiple submitters tibial muscular dystrophy
  • p.Arg21009Gln Multiple submitters heart failure
  • p.Arg21698Cys Multiple submitters Cardiovascular phenotype
  • p.Arg22205Lys Multiple submitters Cardiovascular phenotype
  • p.Arg23636His Multiple submitters Cardiovascular phenotype
  • p.Arg23790His Multiple submitters Cardiovascular phenotype
  • p.Arg24947Cys Multiple submitters Cardiovascular phenotype
  • p.Arg25249Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg25641His Multiple submitters Cardiovascular phenotype
  • p.Arg26440Cys Multiple submitters Cardiovascular phenotype
  • p.Arg28118Cys Multiple submitters Cardiovascular phenotype
  • p.Arg29279= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg29293Cys Multiple submitters Cardiovascular phenotype
  • p.Arg30323Lys Multiple submitters Cardiovascular phenotype
  • p.Arg30628Ser Multiple submitters Cardiovascular phenotype
  • p.Arg31349His Multiple submitters Cardiovascular phenotype
  • p.Arg31802= Multiple submitters Cardiovascular phenotype
  • p.Arg32333His Multiple submitters Cardiovascular phenotype
  • p.Arg32538His Multiple submitters Cardiovascular phenotype
  • p.Arg32587His Multiple submitters Cardiovascular phenotype
  • p.Arg328Cys Multiple submitters Cardiovascular phenotype
  • p.Arg3367Gln Multiple submitters Cardiovascular phenotype
  • p.Arg34455= Multiple submitters Cardiovascular phenotype
  • p.Arg34594His Multiple submitters Cardiovascular phenotype
  • p.Arg34859Gln Multiple submitters Cardiovascular phenotype
  • p.Arg3550Trp Multiple submitters
  • p.Arg35546= Multiple submitters Cardiovascular phenotype
  • p.Arg360Thr Multiple submitters Cardiovascular phenotype
  • p.Arg3936= Multiple submitters
  • p.Arg4329Lys Multiple submitters Cardiovascular phenotype
  • p.Arg4401Gln Multiple submitters Cardiovascular phenotype
  • p.Arg4842Lys Multiple submitters Cardiovascular phenotype
  • p.Arg6936= Multiple submitters early-onset myopathy with fatal cardiomyopathy
  • p.Arg8294Gly Multiple submitters Cardiovascular phenotype
  • p.Arg8646Cys Multiple submitters Cardiovascular phenotype
  • p.Arg9438Gln Multiple submitters Cardiovascular phenotype
  • p.Asn16662Thr Multiple submitters Cardiovascular phenotype
  • p.Asn16666= Multiple submitters Cardiovascular phenotype
  • p.Asn18701Asp Multiple submitters Cardiovascular phenotype
  • p.Asn20580= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Asn21292= Multiple submitters Cardiovascular phenotype
  • p.Asn21344= Multiple submitters Cardiovascular phenotype
  • p.Asn21591= Multiple submitters Cardiovascular phenotype
  • p.Asn25760Ser Multiple submitters Cardiovascular phenotype
  • p.Asn26567Ser Multiple submitters Cardiovascular phenotype
  • p.Asn26887= Multiple submitters Cardiovascular phenotype
  • p.Asn30646Ser Multiple submitters Cardiovascular phenotype
  • p.Asn30900Ser Multiple submitters Cardiovascular phenotype
  • p.Asn35619= Multiple submitters Cardiovascular phenotype
  • p.Asn4245His Multiple submitters Cardiovascular phenotype
  • p.Asn5365= Multiple submitters Cardiovascular phenotype
  • p.Asn6461= Multiple submitters Cardiovascular phenotype
  • p.Asn7744Lys Multiple submitters Cardiovascular phenotype
  • p.Asn8803Ser Multiple submitters Cardiovascular phenotype
  • p.Asn9559= Multiple submitters tibial muscular dystrophy
  • p.Asn9775= Multiple submitters dilated cardiomyopathy 1G
  • p.Asp10128= Multiple submitters dilated cardiomyopathy 1G
  • p.Asp10142= Multiple submitters dilated cardiomyopathy 1G
  • p.Asp10322= Multiple submitters dilated cardiomyopathy 1G
  • p.Asp13670= Multiple submitters Cardiovascular phenotype
  • p.Asp14928= Multiple submitters Cardiovascular phenotype
  • p.Asp15757= Multiple submitters Cardiovascular phenotype
  • p.Asp1796= Multiple submitters Cardiovascular phenotype
  • p.Asp18504= Multiple submitters Cardiovascular phenotype
  • p.Asp21900= Multiple submitters Cardiovascular phenotype
  • p.Asp2243Tyr Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp26314= Multiple submitters Cardiovascular phenotype
  • p.Asp26595His Multiple submitters Cardiovascular phenotype
  • p.Asp29433Asn Multiple submitters Cardiovascular phenotype
  • p.Asp29504Asn Multiple submitters Cardiovascular phenotype
  • p.Asp31679Asn Multiple submitters Cardiovascular phenotype
  • p.Asp3173= Multiple submitters myopathy, myofibrillar, 9, with early respiratory failure
  • p.Asp31735= Multiple submitters Cardiovascular phenotype
  • p.Asp32526= Multiple submitters Cardiovascular phenotype
  • p.Asp33688= Multiple submitters Cardiovascular phenotype
  • p.Asp33899= Multiple submitters Cardiovascular phenotype
  • p.Asp4563= Multiple submitters dilated cardiomyopathy 1G
  • p.Asp60Tyr Multiple submitters Cardiovascular phenotype
  • p.Asp6335Gly Multiple submitters dilated cardiomyopathy 1G
  • p.Asp7462His Multiple submitters Cardiovascular phenotype
  • p.Asp7596His Multiple submitters Cardiovascular phenotype
  • p.Asp8403= Multiple submitters Cardiovascular phenotype
  • p.Asp8466Glu Multiple submitters Cardiovascular phenotype
  • p.Cys35492= Multiple submitters Cardiovascular phenotype
  • p.Cys3673= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Cys8336= Multiple submitters dilated cardiomyopathy 1G
  • p.Cys9091= Multiple submitters tibial muscular dystrophy
  • p.Gln18643= Multiple submitters Cardiovascular phenotype
  • p.Gln19154= Multiple submitters Cardiovascular phenotype
  • p.Gln21915Lys Multiple submitters Cardiovascular phenotype
  • p.Gln26049= Multiple submitters Cardiovascular phenotype
  • p.Gln26647= Multiple submitters Cardiovascular phenotype
  • p.Gln26879Lys Multiple submitters Cardiovascular phenotype
  • p.Gln3536= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gln3618His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gln3790= Multiple submitters Cardiovascular phenotype
  • p.Gln4356= Multiple submitters
  • p.Gln4398= Multiple submitters Cardiovascular phenotype
  • p.Gln4538His Multiple submitters tibial muscular dystrophy
  • p.Gln4620Pro Multiple submitters
  • p.Gln5327= Multiple submitters
  • p.Gln5474= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gln770His Multiple submitters Cardiovascular phenotype
  • p.Glu10318Lys Multiple submitters Cardiovascular phenotype
  • p.Glu11416del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Glu11590Gly Multiple submitters dilated cardiomyopathy 1G
  • p.Glu12042Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Glu12170Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J

Likely benign 14766

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

  • p.Val35404= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Val35157= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Ala35128= Multiple submitters Cardiovascular phenotype
  • p.Leu35109= Multiple submitters Cardiovascular phenotype
  • p.Arg34698= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Leu34403= Multiple submitters dilated cardiomyopathy 1G
  • p.Ala31488= Multiple submitters dilated cardiomyopathy 1G
  • p.Ser31325= Multiple submitters Cardiovascular phenotype
  • p.Thr31234= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Thr30980= Multiple submitters Cardiovascular phenotype
  • p.Arg30448= Multiple submitters dilated cardiomyopathy 1G
  • p.Ile29743= Multiple submitters dilated cardiomyopathy 1G
  • p.Arg29656= Multiple submitters dilated cardiomyopathy 1G
  • p.Thr29646= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Pro29138= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Pro29026= Multiple submitters Cardiovascular phenotype
  • p.Thr28555= Multiple submitters dilated cardiomyopathy 1G
  • p.Pro27968= Multiple submitters dilated cardiomyopathy 1G
  • p.Val27860= Multiple submitters dilated cardiomyopathy 1G
  • p.Ala27426= Multiple submitters dilated cardiomyopathy 1G
  • p.Gly27375= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Leu25369= Multiple submitters Cardiovascular phenotype
  • p.Pro24833= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gly24521= Multiple submitters Cardiovascular phenotype
  • p.Val24514= Multiple submitters Cardiovascular phenotype
  • p.Leu24483= Multiple submitters Cardiovascular phenotype
  • p.Thr23379= Multiple submitters Cardiovascular phenotype
  • p.Pro22950= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gly22827= Multiple submitters Cardiovascular phenotype
  • p.Leu22208= Multiple submitters tibial muscular dystrophy
  • p.Leu22192= Multiple submitters Cardiovascular phenotype
  • p.Ser22176= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Leu22115= Multiple submitters dilated cardiomyopathy 1G
  • p.Gly21561= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Ala21203= Multiple submitters dilated cardiomyopathy 1G
  • p.Ser21111= Multiple submitters dilated cardiomyopathy 1G
  • p.Thr20804= Multiple submitters dilated cardiomyopathy 1G
  • p.Val20222= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gly20116= Multiple submitters Cardiovascular phenotype
  • p.Val19744= Multiple submitters Cardiovascular phenotype
  • p.Pro19288= Multiple submitters dilated cardiomyopathy 1G
  • p.Val18950= Multiple submitters Cardiovascular phenotype
  • p.Pro18576= Multiple submitters Cardiovascular phenotype
  • p.Ala18438= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Ala18035= Multiple submitters Cardiovascular phenotype
  • p.Arg17643= Multiple submitters Cardiovascular phenotype
  • p.Pro17414= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Leu17406= Multiple submitters Cardiovascular phenotype
  • p.Val16693= Multiple submitters dilated cardiomyopathy 1G
  • p.Val16625= Multiple submitters dilated cardiomyopathy 1G
  • p.Arg16167= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Gly16084= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Arg16027= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • p.Thr15616= Multiple submitters Cardiovascular phenotype
  • c.100765+41G>A Multiple submitters
  • c.100765+5AAAT[2] Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.10115-17T>G Multiple submitters dilated cardiomyopathy 1G
  • c.10115-5C>T Multiple submitters dilated cardiomyopathy 1G
  • p.Arg33738= Multiple submitters Cardiovascular phenotype
  • p.Thr34033= Multiple submitters Cardiovascular phenotype
  • p.Ala35128Val Multiple submitters Cardiovascular phenotype
  • c.106532-18C>T Multiple submitters dilated cardiomyopathy 1G
  • c.106532-19del Multiple submitters dilated cardiomyopathy 1G
  • c.106532-4T>C Multiple submitters Cardiovascular phenotype
  • p.Ile35733= Multiple submitters dilated cardiomyopathy 1G
  • c.107224-19T>C Multiple submitters dilated cardiomyopathy 1G
  • c.107224-7G>A Multiple submitters dilated cardiomyopathy 1G
  • c.107377+13T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.107378-20G>A Multiple submitters dilated cardiomyopathy 1G
  • c.107680+19G>A Multiple submitters dilated cardiomyopathy 1G
  • c.107681-21_107681-18del Multiple submitters dilated cardiomyopathy 1G
  • c.11254+6T>C Multiple submitters
  • c.11255-20T>A Multiple submitters dilated cardiomyopathy 1G
  • c.11255-7A>G Multiple submitters dilated cardiomyopathy 1G
  • c.11311+1066dup Multiple submitters
  • c.11311+1284G>A Multiple submitters
  • c.11311+1350G>A Multiple submitters
  • c.11311+1548A>G Multiple submitters
  • c.11311+2197G>T Multiple submitters
  • c.11311+2325T>C Multiple submitters
  • c.11311+9A>G Multiple submitters dilated cardiomyopathy 1G
  • c.11312-4381C>T Multiple submitters
  • c.11312-77G>C Multiple submitters
  • c.1245+15G>A Multiple submitters dilated cardiomyopathy 1G
  • c.1245+20G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.1246-14C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.1246-4C>T Multiple submitters Cardiovascular phenotype
  • c.1398+12G>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.1399-13C>T Multiple submitters dilated cardiomyopathy 1G
  • c.14092+12A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.14092+31G>A Multiple submitters
  • c.14093-16C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.14093-4G>A Multiple submitters dilated cardiomyopathy 1G
  • c.14372-11T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.14936-6A>T Multiple submitters dilated cardiomyopathy 1G
  • c.15217+8T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.15218-22C>G Multiple submitters
  • c.1537-53T>G Multiple submitters
  • c.15497-14C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.15775+14C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.15775+22C>T Multiple submitters
  • c.15775+7G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.15775+8T>C Multiple submitters dilated cardiomyopathy 1G
  • c.16621+16T>G Multiple submitters dilated cardiomyopathy 1G
  • c.16621+8T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.16622-9C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.17741-6G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.1800+10T>C Multiple submitters dilated cardiomyopathy 1G
  • c.1800+17A>G Multiple submitters dilated cardiomyopathy 1G
  • c.1801-10G>T Multiple submitters dilated cardiomyopathy 1G
  • c.18029-9T>C Multiple submitters dilated cardiomyopathy 1G
  • c.18307+13C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.19147+33A>G Multiple submitters
  • c.19148-13A>G Multiple submitters dilated cardiomyopathy 1G
  • c.19148-19A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.1938+14T>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.19426+7A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.19427-20T>C Multiple submitters dilated cardiomyopathy 1G
  • c.19427-9A>G Multiple submitters dilated cardiomyopathy 1G
  • c.19715-12_19715-11del Multiple submitters dilated cardiomyopathy 1G
  • c.19715-7T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.20554+12T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.20554+9A>G Multiple submitters dilated cardiomyopathy 1G
  • c.20555-16A>G Multiple submitters dilated cardiomyopathy 1G
  • c.2076+13_2076+15del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.2076+13G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.2076+7A>G Multiple submitters dilated cardiomyopathy 1G
  • c.20836+9A>G Multiple submitters dilated cardiomyopathy 1G
  • c.21683-15T>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.21961+17T>C Multiple submitters dilated cardiomyopathy 1G
  • c.21962-15G>A Multiple submitters dilated cardiomyopathy 1G
  • c.22528+13G>A Multiple submitters dilated cardiomyopathy 1G
  • c.22816+59A>T Multiple submitters
  • c.22817-42A>G Multiple submitters
  • c.23098+19_23098+22del Multiple submitters dilated cardiomyopathy 1G
  • c.23099-27C>G Multiple submitters
  • c.23378-12T>G Multiple submitters dilated cardiomyopathy 1G
  • c.23378-14del Multiple submitters dilated cardiomyopathy 1G
  • c.23938+14G>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.23938+17T>A Multiple submitters dilated cardiomyopathy 1G
  • c.23939-24G>A Multiple submitters
  • c.23939-4A>G Multiple submitters Cardiovascular phenotype
  • c.23939-4A>T Multiple submitters dilated cardiomyopathy 1G
  • c.23939-5C>T Multiple submitters dilated cardiomyopathy 1G
  • c.24227-16G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.24227-17C>T Multiple submitters dilated cardiomyopathy 1G
  • c.24505+12C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.24506-17_24506-16del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.24506-7C>T Multiple submitters dilated cardiomyopathy 1G
  • c.24785-16A>G Multiple submitters dilated cardiomyopathy 1G
  • c.2493+18A>G Multiple submitters dilated cardiomyopathy 1G
  • c.2494-16C>T Multiple submitters dilated cardiomyopathy 1G
  • c.2494-7C>A Multiple submitters dilated cardiomyopathy 1G
  • c.25063+18C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.25351+18C>A Multiple submitters dilated cardiomyopathy 1G
  • c.25351+20del Multiple submitters dilated cardiomyopathy 1G
  • c.25639+11G>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.26201-13C>T Multiple submitters dilated cardiomyopathy 1G
  • c.26201-5A>T Multiple submitters dilated cardiomyopathy 1G
  • c.26482+14T>C Multiple submitters dilated cardiomyopathy 1G
  • c.26482+16A>G Multiple submitters dilated cardiomyopathy 1G
  • c.26762-60T>C Multiple submitters
  • c.27050-34C>T Multiple submitters
  • c.27050-6G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.27328+14C>T Multiple submitters dilated cardiomyopathy 1G
  • c.27328+16C>T Multiple submitters dilated cardiomyopathy 1G
  • c.27608-21_27608-18del Multiple submitters dilated cardiomyopathy 1G
  • c.2775+19G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.2775+19G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.2776-20T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.27886+10A>G Multiple submitters dilated cardiomyopathy 1G
  • c.27886+17T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.28174+11T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.28174+7G>C Multiple submitters dilated cardiomyopathy 1G
  • c.28175-21_28175-20del Multiple submitters dilated cardiomyopathy 1G
  • c.28175-9T>C Multiple submitters dilated cardiomyopathy 1G
  • c.28753+15C>G Multiple submitters dilated cardiomyopathy 1G
  • c.29041+17A>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.29041+18del Multiple submitters dilated cardiomyopathy 1G
  • c.29042-85C>T Multiple submitters
  • c.29134+33C>G Multiple submitters
  • c.29420+10A>G Multiple submitters dilated cardiomyopathy 1G
  • c.29420+11T>A Multiple submitters dilated cardiomyopathy 1G
  • c.29420+17C>T Multiple submitters dilated cardiomyopathy 1G
  • c.29421-19del Multiple submitters dilated cardiomyopathy 1G
  • c.296-40C>T Multiple submitters
  • c.296-4G>A Multiple submitters dilated cardiomyopathy 1G
  • c.29604+7T>C Multiple submitters dilated cardiomyopathy 1G
  • c.29694+21A>T Multiple submitters
  • c.29963-20G>A Multiple submitters dilated cardiomyopathy 1G
  • c.30224-18C>T Multiple submitters dilated cardiomyopathy 1G
  • c.30224-41T>G Multiple submitters
  • c.30511+10C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.30512-15T>A Multiple submitters dilated cardiomyopathy 1G
  • c.30512-16T>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.30538+16A>G Multiple submitters dilated cardiomyopathy 1G
  • c.30539-95A>C Multiple submitters
  • c.30539-9C>T Multiple submitters dilated cardiomyopathy 1G
  • c.30598+19A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.30682+10C>T Multiple submitters dilated cardiomyopathy 1G
  • c.30682+13A>G Multiple submitters dilated cardiomyopathy 1G
  • c.30683-13T>C Multiple submitters dilated cardiomyopathy 1G
  • c.30683-28_30683-15del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.30683-61G>A Multiple submitters
  • c.30754+15C>A Multiple submitters dilated cardiomyopathy 1G
  • c.30803-16T>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.30803-7A>G Multiple submitters dilated cardiomyopathy 1G
  • c.3100+17C>T Multiple submitters dilated cardiomyopathy 1G
  • c.3101-17C>T Multiple submitters dilated cardiomyopathy 1G
  • c.31270+12G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.31271-13A>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.31349-18T>G Multiple submitters dilated cardiomyopathy 1G
  • c.31426+11T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.31427-20G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.31513+19T>C Multiple submitters dilated cardiomyopathy 1G
  • c.31514-4del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.31594+16T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.31595-18G>T Multiple submitters dilated cardiomyopathy 1G
  • c.3164+13G>C Multiple submitters dilated cardiomyopathy 1G
  • c.31678+20A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.31679-12G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.31679-20C>A Multiple submitters dilated cardiomyopathy 1G
  • c.31762+15A>G Multiple submitters dilated cardiomyopathy 1G
  • c.31763-6dup Multiple submitters dilated cardiomyopathy 1G
  • c.31846+14C>T Multiple submitters dilated cardiomyopathy 1G
  • c.31846+15G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.31846+17C>T Multiple submitters dilated cardiomyopathy 1G
  • c.31846+18G>A Multiple submitters dilated cardiomyopathy 1G
  • c.31846+20A>G Multiple submitters dilated cardiomyopathy 1G
  • c.31847-12T>C Multiple submitters dilated cardiomyopathy 1G
  • c.32011+19C>T Multiple submitters dilated cardiomyopathy 1G
  • c.32095+20T>C Multiple submitters dilated cardiomyopathy 1G
  • c.32096-37C>A Multiple submitters
  • c.32197+10C>T Multiple submitters dilated cardiomyopathy 1G
  • c.32197+15G>T Multiple submitters dilated cardiomyopathy 1G
  • c.32197+18del Multiple submitters dilated cardiomyopathy 1G
  • c.32393-9C>G Multiple submitters dilated cardiomyopathy 1G
  • c.32470+18G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.32555-24T>C Multiple submitters
  • c.32638+10C>A Multiple submitters dilated cardiomyopathy 1G
  • c.32722+8C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.32806+15A>C Multiple submitters dilated cardiomyopathy 1G
  • c.32888-19G>A Multiple submitters dilated cardiomyopathy 1G
  • c.33094+13C>G Multiple submitters dilated cardiomyopathy 1G
  • c.33094+9A>C Multiple submitters dilated cardiomyopathy 1G
  • c.33095-19C>A Multiple submitters dilated cardiomyopathy 1G
  • c.33172+14A>G Multiple submitters dilated cardiomyopathy 1G
  • c.33418+11del Multiple submitters dilated cardiomyopathy 1G
  • c.33665-13A>G Multiple submitters dilated cardiomyopathy 1G
  • c.33743-15T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.3380+9A>G Multiple submitters dilated cardiomyopathy 1G
  • c.34291+141A>T Multiple submitters
  • c.34378+12C>T Multiple submitters dilated cardiomyopathy 1G
  • c.34453+13C>T Multiple submitters dilated cardiomyopathy 1G
  • c.34538-14C>T Multiple submitters dilated cardiomyopathy 1G
  • c.34613-10C>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.34613-18A>G Multiple submitters dilated cardiomyopathy 1G
  • c.34708+8C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.34786+71T>C Multiple submitters
  • c.34787-16C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.34855+7C>T Multiple submitters dilated cardiomyopathy 1G
  • c.34855+9_34855+11del Multiple submitters dilated cardiomyopathy 1G
  • c.34930+11A>G Multiple submitters dilated cardiomyopathy 1G
  • c.35228-19A>C Multiple submitters dilated cardiomyopathy 1G
  • c.35228-6T>C Multiple submitters dilated cardiomyopathy 1G
  • c.35228-9T>A Multiple submitters dilated cardiomyopathy 1G
  • c.3523+9A>C Multiple submitters dilated cardiomyopathy 1G
  • c.35471-51C>T Multiple submitters
  • c.35797+12T>C Multiple submitters dilated cardiomyopathy 1G
  • c.35960-10A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.36044-14T>G Multiple submitters dilated cardiomyopathy 1G
  • c.36203-11T>C Multiple submitters dilated cardiomyopathy 1G
  • c.36281-13A>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.36281-18A>C Multiple submitters dilated cardiomyopathy 1G
  • c.36365-16A>G Multiple submitters dilated cardiomyopathy 1G
  • c.36532+13G>A Multiple submitters dilated cardiomyopathy 1G
  • c.36616+13T>A Multiple submitters dilated cardiomyopathy 1G
  • c.36616+16T>G Multiple submitters dilated cardiomyopathy 1G
  • c.36616+18G>T Multiple submitters dilated cardiomyopathy 1G
  • c.36791-51C>T Multiple submitters
  • c.37040-13A>G Multiple submitters
  • c.37202-9T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.37369+10C>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.37369+8C>A Multiple submitters dilated cardiomyopathy 1G
  • c.37453+79T>C Multiple submitters
  • c.37793-12_37793-10del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.38122+9C>T Multiple submitters dilated cardiomyopathy 1G
  • c.38380+29T>A Multiple submitters
  • c.38381-32C>T Multiple submitters
  • c.38381-8C>G Multiple submitters
  • c.38627-16A>G Multiple submitters tibial muscular dystrophy
  • c.38875+20G>T Multiple submitters dilated cardiomyopathy 1G
  • c.38876-17C>T Multiple submitters dilated cardiomyopathy 1G
  • c.38876-20T>C Multiple submitters dilated cardiomyopathy 1G
  • c.38876-8C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.39043+16T>C Multiple submitters dilated cardiomyopathy 1G
  • c.39044-14T>C Multiple submitters dilated cardiomyopathy 1G
  • c.39128-12T>A Multiple submitters dilated cardiomyopathy 1G
  • c.39128-16A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J
  • c.39211+13A>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2J

Uncertain significance 10967

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