FH — 2285 ClinVar variants

Pathogenic 225

• c.1058_1108+19del Multiple submitters hereditary neoplastic syndrome
• c.1108+1G>A Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1236+1G>C Multiple submitters hereditary neoplastic syndrome
• c.1236+2T>G Multiple submitters hereditary neoplastic syndrome
• c.1391-1G>C Multiple submitters hereditary neoplastic syndrome
• c.1391-2A>G Multiple submitters hereditary neoplastic syndrome
• c.1392delG Multiple submitters hereditary neoplastic syndrome
• c.267+1G>C Multiple submitters hereditary neoplastic syndrome
• c.379-1G>A Multiple submitters hereditary neoplastic syndrome
• c.556_557delAG Multiple submitters hereditary neoplastic syndrome
• c.722_738+3del Multiple submitters hereditary neoplastic syndrome
• c.738+1G>A Multiple submitters hereditary neoplastic syndrome
• p.Ala294fs Multiple submitters
• p.Ala317Val Multiple submitters hereditary neoplastic syndrome
• p.Ala379_Met380insTer Multiple submitters hereditary neoplastic syndrome
• p.Ala393_Val394del Multiple submitters hereditary neoplastic syndrome
• p.Ala458fs Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ala468fs Multiple submitters hereditary neoplastic syndrome
• p.Arg101fs Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Arg101Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg160Gly Multiple submitters hereditary neoplastic syndrome
• p.Arg233His Multiple submitters FH-related disorder
• p.Asn107Ter Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Asn118fs Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Asn188fs Multiple submitters hereditary neoplastic syndrome
• p.Asn361fs Multiple submitters fumaric aciduria
• p.Asn373Ser Multiple submitters hereditary neoplastic syndrome
• p.Asn446fs Multiple submitters hereditary neoplastic syndrome
• p.Asp341Glu Multiple submitters hereditary neoplastic syndrome
• p.Cys333Ter Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Gln142Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln148Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln212Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln227Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln246fs Multiple submitters
• p.Gln253Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln254Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln376fs Multiple submitters hereditary neoplastic syndrome
• p.Gln47fs Multiple submitters hereditary neoplastic syndrome
• p.Gln71Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu105_Val106insTer Multiple submitters hereditary neoplastic syndrome
• p.Glu224fs Multiple submitters FH-related disorder
• p.Glu247Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu313Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu355Ter Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Glu362fs Multiple submitters hereditary neoplastic syndrome
• p.Glu404Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu432fs Multiple submitters hereditary neoplastic syndrome
• p.Glu443Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu484Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu53Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu59Ter Multiple submitters hereditary neoplastic syndrome
• p.Gly275fs Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Gly276Asp Multiple submitters hereditary neoplastic syndrome
• p.Gly348fs Multiple submitters hereditary neoplastic syndrome
• p.His235Arg Multiple submitters hereditary neoplastic syndrome
• p.Ile269fs Multiple submitters hereditary neoplastic syndrome
• p.Ile81fs Multiple submitters hereditary neoplastic syndrome
• p.Leu353fs Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Leu453fs Multiple submitters
• p.Leu60Ter Multiple submitters hereditary neoplastic syndrome
• p.Leu99fs Multiple submitters hereditary neoplastic syndrome
• p.Lys131_Leu132insTer Multiple submitters FH-related disorder
• p.Lys230Arg Multiple submitters hereditary neoplastic syndrome
• p.Lys414Ter Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Lys447Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys80Ter Multiple submitters hereditary neoplastic syndrome
• p.Met266fs Multiple submitters hereditary neoplastic syndrome
• p.Met44Ile Multiple submitters hereditary neoplastic syndrome
• p.Pro192Leu Multiple submitters hereditary neoplastic syndrome
• p.Pro304fs Multiple submitters hereditary neoplastic syndrome
• p.Ser145Ter Multiple submitters hereditary neoplastic syndrome
• p.Ser184fs Multiple submitters hereditary neoplastic syndrome
• p.Ser334fs Multiple submitters hereditary neoplastic syndrome
• p.Ser351Ter Multiple submitters hereditary neoplastic syndrome
• p.Ser480fs Multiple submitters FH-related disorder
• p.Ser75fs Multiple submitters
• p.Thr147fs Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Thr190fs Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Thr277fs Multiple submitters hereditary neoplastic syndrome
• p.Thr301fs Multiple submitters hereditary neoplastic syndrome
• p.Thr307fs Multiple submitters hereditary neoplastic syndrome
• p.Trp500Ter Multiple submitters
• p.Tyr257Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr67Ter Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Tyr68Ter Multiple submitters hereditary neoplastic syndrome
• p.Val140fs Multiple submitters hereditary neoplastic syndrome
• p.Val416fs Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Val92fs Multiple submitters hereditary neoplastic syndrome
• c.1237-2A>G Single submitter hereditary neoplastic syndrome
• c.129_132+5delinsGAGC Single submitter hereditary neoplastic syndrome
• c.133-1G>A Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1390+1G>A Single submitter
• c.1390+2T>G Single submitter
• c.241_267+5del Single submitter
• c.251_267+7del Single submitter hereditary leiomyomatosis and renal cell cancer
• c.267+1G>T Single submitter
• c.532_555+7del Single submitter
• c.555+1_555+9del Single submitter hereditary neoplastic syndrome
• c.556-1G>C Single submitter
• c.556-3_562del Single submitter
• c.731_738+3delinsAAAT Single submitter hereditary neoplastic syndrome
• c.739-1G>A Single submitter
• c.739-2A>C Single submitter
• p.Ala128fs Single submitter hereditary neoplastic syndrome
• p.Ala200fs Single submitter
• p.Ala226fs Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Ala308Thr Single submitter
• p.Ala314fs Single submitter
• p.Ala316fs Single submitter
• p.Ala339fs Single submitter
• p.Ala393Pro Single submitter
• p.Ala426_Ser427insTer Single submitter
• p.Ala45fs Single submitter hereditary neoplastic syndrome
• p.Ala472fs Single submitter hereditary neoplastic syndrome
• p.Ala486Asp Single submitter
• p.Ala486fs Single submitter
• p.Ala494fs Single submitter hereditary neoplastic syndrome
• p.Arg10fs Single submitter
• p.Arg233Pro Single submitter
• p.Arg261fs Single submitter hereditary neoplastic syndrome
• p.Arg343fs Single submitter
• p.Arg421fs Single submitter
• p.Arg74Ter Single submitter hereditary neoplastic syndrome
• p.Asn150fs Single submitter hereditary neoplastic syndrome
• p.Asn178fs Single submitter hereditary neoplastic syndrome
• p.Asn340fs Single submitter
• p.Asn390fs Single submitter
• p.Asn400fs Single submitter
• p.Asn415fs Single submitter hereditary neoplastic syndrome
• p.Asn433fs Single submitter
• p.Asn450fs Single submitter
• p.Asn478fs Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Asn64fs Single submitter
• p.Asn78fs Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Asp189fs Single submitter hereditary neoplastic syndrome
• p.Asp238Asn Single submitter
• p.Asp238fs Single submitter
• p.Asp505fs Single submitter
• p.Gln212fs Single submitter
• p.Gln237fs Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Gln246Ter Single submitter
• p.Gln254fs Single submitter hereditary neoplastic syndrome
• p.Gln386Ter Single submitter
• p.Glu126Ter Single submitter
• p.Glu129Ter Single submitter hereditary neoplastic syndrome
• p.Glu155Ter Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Glu355fs Single submitter hereditary neoplastic syndrome
• p.Glu451_Ser452insTer Single submitter hereditary neoplastic syndrome
• p.Glu451Ter Single submitter
• p.Glu484fs Single submitter
• p.Glu488fs Single submitter
• p.Glu488Ter Single submitter
• p.Glu495fs Single submitter hereditary neoplastic syndrome
• p.Glu499fs Single submitter
• p.Glu499Ter Single submitter
• p.Glu53fs Single submitter hereditary neoplastic syndrome
• p.Gly144fs Single submitter
• p.Gly232Ter Single submitter hereditary neoplastic syndrome
• p.Gly245fs Single submitter
• p.Gly275Ter Single submitter
• p.Gly389fs Single submitter fumaric aciduria
• p.Gly424fs Single submitter
• p.Gly479_Ser480insTer Single submitter
• p.Gly83fs Single submitter
• p.Gly97fs Single submitter hereditary neoplastic syndrome
• p.His196fs Single submitter hereditary leiomyomatosis and renal cell cancer
• p.His402fs Single submitter hereditary leiomyomatosis and renal cell cancer
• p.His418fs Single submitter
• p.Ile162fs Single submitter
• p.Ile229del Single submitter hereditary neoplastic syndrome
• p.Ile287fs Single submitter hereditary neoplastic syndrome
• p.Ile357fs Single submitter hereditary neoplastic syndrome
• p.Ile445fs Single submitter
• p.Ile98fs Single submitter
• p.Leu165Ter Single submitter
• p.Leu208fs Single submitter hereditary neoplastic syndrome
• p.Leu214fs Single submitter
• p.Leu242fs Single submitter
• p.Leu303fs Single submitter
• p.Leu315fs Single submitter
• p.Leu423fs Single submitter
• p.Leu455Ter Single submitter hereditary neoplastic syndrome
• p.Lys115fs Single submitter
• p.Lys223Ter Single submitter
• p.Lys230Gln Single submitter
• p.Lys292fs Single submitter hereditary neoplastic syndrome
• p.Lys296fs Single submitter
• p.Lys311fs Single submitter
• p.Lys371fs Single submitter
• p.Lys414fs Single submitter
• p.Lys483fs Single submitter
• p.Lys61fs Single submitter
• p.Met380fs Single submitter
• p.Met449fs Single submitter
• p.Phe225fs Single submitter
• p.Phe312fs Single submitter
• p.Phe96fs Single submitter
• p.Pro13fs Single submitter
• p.Pro209fs Single submitter
• p.Pro374fs Single submitter
• p.Ser11fs Single submitter
• p.Ser186fs Single submitter
• p.Ser187Ter Single submitter
• p.Ser222fs Single submitter hereditary neoplastic syndrome
• p.Ser347Pro Single submitter
• p.Ser35fs Single submitter
• p.Thr149fs Single submitter
• p.Thr236fs Single submitter
• p.Thr243fs Single submitter
• p.Thr281Ala Single submitter hereditary neoplastic syndrome
• p.Thr331fs Single submitter
• p.Thr72fs Single submitter hereditary neoplastic syndrome
• p.Trp141fs Single submitter hereditary neoplastic syndrome
• p.Trp141Ter Single submitter
• p.Trp37fs Single submitter
• p.Trp500_Val501insTer Single submitter
• p.Tyr270fs Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Tyr491fs Single submitter hereditary neoplastic syndrome
• p.Tyr67fs Single submitter hereditary neoplastic syndrome
• p.Val139fs Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Val175fs Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Val255fs Single submitter hereditary neoplastic syndrome
• p.Val428fs Single submitter hereditary neoplastic syndrome
• p.Val435fs Single submitter

Pathogenic/Likely pathogenic 108

• c.1108+1G>T Multiple submitters FH-related disorder
• c.1236+1G>A Multiple submitters hereditary neoplastic syndrome
• c.1390+1G>T Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1391-1_1391delinsTT Multiple submitters hereditary neoplastic syndrome
• c.1391-1G>A Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1391-1G>T Multiple submitters hereditary neoplastic syndrome
• c.1391-269A>G Multiple submitters hereditary neoplastic syndrome
• c.1391-2A>T Multiple submitters hereditary neoplastic syndrome
• c.1391-2del Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.267+1_267+10del Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.267+1G>A Multiple submitters hereditary neoplastic syndrome
• c.378+1G>A Multiple submitters fumaric aciduria
• c.378+2T>C Multiple submitters hereditary neoplastic syndrome
• c.379-1G>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.379-2A>G Multiple submitters hereditary neoplastic syndrome
• c.379-2A>T Multiple submitters hereditary neoplastic syndrome
• c.555+1G>A Multiple submitters hereditary neoplastic syndrome
• c.556-2A>T Multiple submitters hereditary neoplastic syndrome
• c.738+1G>C Multiple submitters hereditary neoplastic syndrome
• c.738+1G>T Multiple submitters hereditary neoplastic syndrome
• c.738+2T>C Multiple submitters hereditary neoplastic syndrome
• c.738+3A>G Multiple submitters hereditary neoplastic syndrome
• c.739-2A>G Multiple submitters hereditary neoplastic syndrome
• c.893_904+7del Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.904+1G>A Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.905-1G>A Multiple submitters hereditary neoplastic syndrome
• c.905-2A>C Multiple submitters fumaric aciduria
• p.Ala117Pro Multiple submitters hereditary neoplastic syndrome
• p.Ala316Asp Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Arg101Pro Multiple submitters hereditary neoplastic syndrome
• p.Arg160Thr Multiple submitters hereditary neoplastic syndrome
• p.Arg233Cys Multiple submitters FH-related disorder
• p.Arg233Gly Multiple submitters hereditary neoplastic syndrome
• p.Arg233Leu Multiple submitters hereditary neoplastic syndrome
• p.Arg343Ter Multiple submitters FH-related disorder
• p.Arg51Gln Multiple submitters hereditary neoplastic syndrome
• p.Asn107Lys Multiple submitters hereditary neoplastic syndrome
• p.Asn107Thr Multiple submitters hereditary neoplastic syndrome
• p.Asn154Lys Multiple submitters
• p.Asn188Ile Multiple submitters fumaric aciduria
• p.Asn340Lys Multiple submitters FH-related disorder
• p.Asn373del Multiple submitters hereditary neoplastic syndrome
• p.Asp189Val Multiple submitters hereditary neoplastic syndrome
• p.Asp238His Multiple submitters hereditary neoplastic syndrome
• p.Asp341Asn Multiple submitters hereditary neoplastic syndrome
• p.Cys434Arg Multiple submitters hereditary neoplastic syndrome
• p.Gln108Ter Multiple submitters uterine corpus leiomyoma
• p.Gln142Arg Multiple submitters hereditary neoplastic syndrome
• p.Gln185Arg Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Gln185fs Multiple submitters fumaric aciduria
• p.Gln376Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln386Arg Multiple submitters hereditary neoplastic syndrome
• p.Gln47Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln496Ter Multiple submitters
• p.Glu168fs Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Glu362Lys Multiple submitters hereditary neoplastic syndrome
• p.Gly276Val Multiple submitters hereditary neoplastic syndrome
• p.Gly280fs Multiple submitters fumaric aciduria
• p.Gly326Glu Multiple submitters hereditary neoplastic syndrome
• p.Gly346Asp Multiple submitters fumaric aciduria ⚠
• p.Gly397Arg Multiple submitters hereditary neoplastic syndrome
• p.Gly437fs Multiple submitters
• p.Gly479Ter Multiple submitters hereditary neoplastic syndrome
• p.Gly490fs Multiple submitters hereditary neoplastic syndrome
• p.His135Arg Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.His180Arg Multiple submitters hereditary neoplastic syndrome
• p.His196Arg Multiple submitters hereditary neoplastic syndrome
• p.His235Tyr Multiple submitters hereditary neoplastic syndrome
• p.His318Leu Multiple submitters hereditary neoplastic syndrome
• p.His318Tyr Multiple submitters FH-related disorder
• p.His402Arg Multiple submitters hereditary neoplastic syndrome
• p.Ile269_Tyr270insTer Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Leu218Pro Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Leu356Ter Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Leu423Arg Multiple submitters hereditary neoplastic syndrome
• p.Leu453Pro Multiple submitters fumaric aciduria
• p.Leu482Ter Multiple submitters hereditary neoplastic syndrome
• p.Leu492fs Multiple submitters hereditary neoplastic syndrome
• p.Lys223fs Multiple submitters hereditary neoplastic syndrome
• p.Lys230Glu Multiple submitters hereditary neoplastic syndrome
• p.Lys263_Ile269del Multiple submitters hereditary neoplastic syndrome
• p.Met164fs Multiple submitters fumaric aciduria
• p.Met195Thr Multiple submitters FH-related disorder
• p.Met195Val Multiple submitters FH-related disorder
• p.Met382Val Multiple submitters hereditary neoplastic syndrome
• p.Phe305fs Multiple submitters FH-related disorder
• p.Phe305Ser Multiple submitters hereditary neoplastic syndrome
• p.Phe312Leu Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Phe312Ser Multiple submitters hereditary neoplastic syndrome
• p.Phe403fs Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Pro174Arg Multiple submitters FH-related disorder
• p.Ser186Asn Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ser187Leu Multiple submitters hereditary neoplastic syndrome
• p.Ser365Asn Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ser365Gly Multiple submitters hereditary neoplastic syndrome
• p.Ser366Asn Multiple submitters hereditary neoplastic syndrome
• p.Ser399Asn Multiple submitters hereditary neoplastic syndrome
• p.Ser419Leu Multiple submitters hereditary neoplastic syndrome
• p.Ser419Pro Multiple submitters hereditary neoplastic syndrome
• p.Ser480Ter Multiple submitters hereditary neoplastic syndrome
• p.Thr147Ala Multiple submitters hereditary neoplastic syndrome
• p.Thr193_Ala194del Multiple submitters hereditary neoplastic syndrome
• p.Thr234Ala Multiple submitters hereditary neoplastic syndrome
• p.Thr234Ile Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Thr330Pro Multiple submitters hereditary neoplastic syndrome
• p.Thr493fs Multiple submitters hereditary neoplastic syndrome
• p.Tyr465Cys Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Tyr67Asp Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 132

• c.1237-1G>T Multiple submitters hereditary neoplastic syndrome
• c.556-2A>G Multiple submitters hereditary neoplastic syndrome
• c.902_904+4del Multiple submitters hereditary neoplastic syndrome
• p.Arg51Pro Multiple submitters hereditary neoplastic syndrome
• p.Asn150Lys Multiple submitters hereditary neoplastic syndrome
• p.Gln142Lys Multiple submitters hereditary neoplastic syndrome
• p.Glu355Lys Multiple submitters hereditary neoplastic syndrome
• p.Gly280Ser Multiple submitters hereditary neoplastic syndrome
• p.Gly389Arg Multiple submitters hereditary neoplastic syndrome
• p.Gly398Ser Multiple submitters hereditary neoplastic syndrome
• p.His235Asp Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Leu244Arg Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Leu315Pro Multiple submitters Hereditary cancer
• p.Met1Ile Multiple submitters
• p.Met88Lys Multiple submitters leiomyoma cutis
• p.Phe312Val Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ser334Arg Multiple submitters hereditary neoplastic syndrome
• p.Thr234Pro Multiple submitters hereditary neoplastic syndrome
• p.Thr72Pro Multiple submitters hereditary neoplastic syndrome
• c.1108+2T>A Single submitter hereditary neoplastic syndrome
• c.1109-1G>C Single submitter
• c.1109-2A>G Single submitter
• c.1236+2T>A Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1236+2T>C Single submitter hereditary neoplastic syndrome
• c.1237-11C>G Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1237-1G>C Single submitter
• c.132+1G>A Single submitter hereditary neoplastic syndrome
• c.132+1G>C Single submitter hereditary neoplastic syndrome
• c.266_267+1delinsATT Single submitter
• c.268-1_274delinsTTAAA Single submitter hereditary leiomyomatosis and renal cell cancer
• c.268-1G>A Single submitter hereditary leiomyomatosis and renal cell cancer
• c.268-3_268-2del Single submitter
• c.555+5G>A Single submitter hereditary neoplastic syndrome
• c.556-1G>A Single submitter
• c.556-2A>C Single submitter
• c.556-9_556-2del Single submitter
• c.640_738+416del Single submitter hereditary neoplastic syndrome
• c.738+1del Single submitter hereditary neoplastic syndrome
• c.739-17_754delinsGAATTGCATAT Single submitter hereditary neoplastic syndrome
• c.739-1G>T Single submitter hereditary neoplastic syndrome
• c.904+1G>T Single submitter
• c.905-1G>C Single submitter hereditary neoplastic syndrome
• c.93_132+211del Single submitter
• p.Ala161Glu Single submitter hereditary neoplastic syndrome
• p.Ala198fs Single submitter fumaric aciduria
• p.Ala239Thr Single submitter hereditary neoplastic syndrome
• p.Ala298Val Single submitter
• p.Ala308Val Single submitter
• p.Ala316Val Single submitter
• p.Ala332Pro Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Ala385Pro Single submitter
• p.Ala469fs Single submitter FH-related disorder
• p.Ala95Asp Single submitter hereditary neoplastic syndrome
• p.Arg160Ser Single submitter
• p.Asn150Asp Single submitter
• p.Asn373Asp Single submitter
• p.Asn373Lys Single submitter
• p.Asn373Thr Single submitter hereditary neoplastic syndrome
• p.Asn406Tyr Single submitter hereditary neoplastic syndrome
• p.Asp113fs Single submitter fumaric aciduria
• p.Asp319Tyr Single submitter hereditary neoplastic syndrome
• p.Asp341Tyr Single submitter hereditary neoplastic syndrome
• p.Cys333Phe Single submitter hereditary neoplastic syndrome
• p.Cys434Phe Single submitter
• p.Cys434Ter Single submitter
• p.Gln185Pro Single submitter
• p.Gln237Ter Single submitter
• p.Gln386His Single submitter
• p.Glu126Val Single submitter hereditary neoplastic syndrome
• p.Glu155Val Single submitter
• p.Glu323Lys Single submitter
• p.Glu355Gln Single submitter hereditary neoplastic syndrome
• p.Glu355Val Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Glu362Gln Single submitter hereditary neoplastic syndrome
• p.Glu495Ter Single submitter fumaric aciduria
• p.Gly275Glu Single submitter hereditary neoplastic syndrome
• p.Gly280Ala Single submitter hereditary neoplastic syndrome
• p.Gly282Arg Single submitter
• p.Gly282Val Single submitter
• p.Gly326Val Single submitter hereditary neoplastic syndrome
• p.Gly348Asp Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Gly401Val Single submitter hereditary neoplastic syndrome
• p.Gly464Arg Single submitter hereditary neoplastic syndrome
• p.Gly97Asp Single submitter hereditary leiomyomatosis and renal cell cancer
• p.His180Leu Single submitter
• p.His235Asn Single submitter
• p.His235Gln Single submitter
• p.His391Arg Single submitter
• p.His402Leu Single submitter
• p.Ile157Ser Single submitter hereditary neoplastic syndrome
• p.Ile197Phe Single submitter
• p.Ile93del Single submitter hereditary neoplastic syndrome
• p.Leu14fs Single submitter fumaric aciduria
• p.Leu218Arg Single submitter hereditary neoplastic syndrome
• p.Leu242Arg Single submitter hereditary neoplastic syndrome
• p.Leu28fs Single submitter
• p.Leu324Pro Single submitter hereditary neoplastic syndrome
• p.Leu417fs Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Leu417Ter Single submitter
• p.Leu507del Single submitter hereditary neoplastic syndrome
• p.Leu507Gln Single submitter
• p.Lys230Asn Single submitter
• p.Lys502Ter Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Met151Ile Single submitter
• p.Met336Arg Single submitter hereditary neoplastic syndrome
• p.Met368_Pro369delinsIleLeu Single submitter
• p.Met382Thr Single submitter
• p.Met454fs Single submitter FH-related disorder
• p.Met77fs Single submitter fumaric aciduria
• p.Phe305Leu Single submitter
• p.Phe312Cys Single submitter
• p.Phe430fs Single submitter fumaric aciduria
• p.Phe497Ser Single submitter hereditary neoplastic syndrome
• p.Pro177Arg Single submitter
• p.Pro192Ala Single submitter
• p.Pro374Thr Single submitter hereditary neoplastic syndrome
• p.Pro410Gln Single submitter
• p.Ser187Pro Single submitter hereditary neoplastic syndrome
• p.Ser222Pro Single submitter fumaric aciduria
• p.Ser366Arg Single submitter hereditary neoplastic syndrome
• p.Thr147Pro Single submitter hereditary neoplastic syndrome
• p.Thr193Lys Single submitter
• p.Thr234Asn Single submitter
• p.Thr234Ser Single submitter
• p.Thr281Arg Single submitter hereditary neoplastic syndrome
• p.Tyr251fs Single submitter
• p.Tyr67Cys Single submitter hereditary neoplastic syndrome
• p.Val156Ile Single submitter hereditary neoplastic syndrome
• p.Val175Gly Single submitter hereditary neoplastic syndrome
• p.Val322Asp Single submitter hereditary neoplastic syndrome
• p.Val428_Thr431del Single submitter hereditary neoplastic syndrome
• c.904+2T>C No assertion criteria hereditary leiomyomatosis and renal cell cancer

Conflicting classifications of pathogenicity 210

• c.1109-12del Single submitter hereditary neoplastic syndrome
• c.1109-4G>A Single submitter hereditary neoplastic syndrome
• c.1109-4G>C Single submitter hereditary neoplastic syndrome
• c.1109-7C>T Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1236+6C>T Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1237-12A>T Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1237-14_1237-5del Single submitter hereditary neoplastic syndrome
• c.1237-15CTCA[4] Single submitter hereditary neoplastic syndrome
• c.1237-3A>C Single submitter hereditary neoplastic syndrome
• c.1237-3A>G Single submitter hereditary neoplastic syndrome
• c.1237-50TC[15] Single submitter hereditary neoplastic syndrome
• c.1237-50TC[20] Single submitter hereditary neoplastic syndrome
• c.1237-50TC[21] Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1237-50TC[22] Single submitter hereditary neoplastic syndrome
• c.1237-5C>G Single submitter hereditary neoplastic syndrome
• c.1237-7C>T Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1237-9_1237-8insCTCT Single submitter
• c.132+5G>A Single submitter hereditary neoplastic syndrome
• c.132+5G>C Single submitter hereditary neoplastic syndrome
• c.133-3T>C Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1390+2T>C Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• c.1390+5G>A Single submitter hereditary neoplastic syndrome
• c.1390+6T>A Single submitter fumaric aciduria
• c.268-2A>G Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• c.378+4G>A Single submitter hereditary leiomyomatosis and renal cell cancer
• c.379-15A>T Single submitter hereditary leiomyomatosis and renal cell cancer
• c.555+3del Single submitter hereditary neoplastic syndrome
• c.555+4A>G Single submitter fumaric aciduria
• c.555+5G>C Single submitter hereditary leiomyomatosis and renal cell cancer
• c.556-4A>G Single submitter hereditary leiomyomatosis and renal cell cancer
• c.738+14A>G Single submitter fumaric aciduria
• c.738+5A>G Single submitter hereditary leiomyomatosis and renal cell cancer
• c.739-15T>G Single submitter hereditary neoplastic syndrome
• c.739-17TTTTC[2] Single submitter hereditary neoplastic syndrome
• c.905-3T>C Single submitter hereditary neoplastic syndrome
• c.905-5T>A Single submitter hereditary leiomyomatosis and renal cell cancer
• c.905-5T>C Single submitter hereditary neoplastic syndrome
• c.-11C>T Single submitter fumaric aciduria
• c.-3A>G Single submitter hereditary neoplastic syndrome
• c.-4C>T Single submitter hereditary neoplastic syndrome
• c.-57C>G Single submitter fumaric aciduria
• c.*5C>T Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Ala102Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala17Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Ala17Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala194Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala200del Single submitter hereditary neoplastic syndrome
• p.Ala20Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Ala21= Single submitter hereditary neoplastic syndrome
• p.Ala258Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala273_Val279del Single submitter hereditary neoplastic syndrome
• p.Ala273Thr Single submitter FH-related disorder ⚠
• p.Ala274Pro Single submitter fumaric aciduria ⚠
• p.Ala295Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala298Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala298Pro Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Ala308Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala339_Ile342delinsPhe Single submitter hereditary neoplastic syndrome
• p.Ala339Glu Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Ala339Val Single submitter ovarian cancer ⚠
• p.Ala385_Gln386insAla Single submitter hereditary neoplastic syndrome
• p.Ala385Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Ala393Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala41Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala475Glu Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Ala486del Single submitter
• p.Ala4Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala70Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala9_Leu14dup Single submitter hereditary neoplastic syndrome
• p.Ala9Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Arg101Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg12Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Arg261Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Arg350Gln Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Arg350Trp Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Arg3Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Arg3Ter Single submitter hereditary neoplastic syndrome ⚠
• p.Arg43Ter Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Arg444Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Arg51Trp Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Arg6Trp Single submitter hereditary neoplastic syndrome ⚠
• p.Arg74Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg74Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Arg87Cys Single submitter fumaric aciduria ⚠
• p.Arg87His Single submitter ovarian cancer ⚠
• p.Asn118Asp Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Asn188Asp Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Asn373= Single submitter hereditary neoplastic syndrome
• p.Asn390Ser Single submitter fumaric aciduria ⚠
• p.Asn390Tyr Single submitter hereditary neoplastic syndrome ⚠
• p.Asn406Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn40Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Asn478Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Asn478Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asp109Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp179Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp219Asn Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Asp319_Ala320insAsp Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Asp319Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Asp319Val Single submitter hereditary neoplastic syndrome ⚠
• p.Asp341Gly Single submitter FH-related disorder ⚠
• p.Asp425Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp425Glu Single submitter ⚠
• p.Asp425Val Single submitter fumaric aciduria ⚠
• p.Asp65Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp65Gly Single submitter FH-related disorder ⚠
• p.Asp65Val Single submitter fumaric aciduria ⚠
• p.Cys333Tyr Single submitter hereditary neoplastic syndrome ⚠
• p.Cys377Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Cys377Tyr Single submitter fumaric aciduria ⚠
• p.Cys434Tyr Single submitter hereditary neoplastic syndrome ⚠
• p.Gln185His Single submitter hereditary neoplastic syndrome ⚠
• p.Gln246= Single submitter hereditary neoplastic syndrome
• p.Gln246His Single submitter hereditary neoplastic syndrome ⚠
• p.Gln376Pro Single submitter FH-related disorder ⚠
• p.Gln386_Val387delinsHis Single submitter fumaric aciduria
• p.Glu313Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu488Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu53Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Gly144Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Gly144Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Gly144Val Single submitter hereditary neoplastic syndrome ⚠
• p.Gly146Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Gly275Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gly280Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Gly370Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gly401Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Gly464Val Single submitter hereditary neoplastic syndrome ⚠
• p.Gly82Glu Single submitter hereditary neoplastic syndrome ⚠
• p.His135Gln Single submitter hereditary neoplastic syndrome ⚠
• p.His176Arg Single submitter fumaric aciduria ⚠
• p.His391Pro Single submitter hereditary neoplastic syndrome ⚠
• p.His402Tyr Single submitter fumaric aciduria ⚠
• p.Ile116Phe Single submitter hereditary neoplastic syndrome ⚠
• p.Ile120Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile201Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile262Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Ile338Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Leu14Phe Single submitter hereditary neoplastic syndrome ⚠
• p.Leu22Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Leu22Ter Single submitter fumaric aciduria ⚠
• p.Leu244Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Leu303Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Leu345= Single submitter hereditary neoplastic syndrome
• p.Leu482Phe Single submitter hereditary neoplastic syndrome ⚠
• p.Leu507= Single submitter hereditary neoplastic syndrome
• p.Leu507Pro Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Lys100Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Lys131= Single submitter hereditary neoplastic syndrome
• p.Lys172Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Lys256Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Lys371Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Lys470Glu Single submitter fumaric aciduria ⚠
• p.Lys477dup Single submitter FH-related disorder
• p.Lys80= Single submitter hereditary neoplastic syndrome
• p.Met151Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Met1Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Met1Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Met1Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Met1Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Met1Val Single submitter fumaric aciduria ⚠
• p.Met259Val Single submitter hereditary neoplastic syndrome ⚠
• p.Met266Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Met380Val Single submitter hereditary neoplastic syndrome ⚠
• p.Met382Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Met449Ile Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Pro13Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Pro13Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Pro174His Single submitter hereditary neoplastic syndrome ⚠
• p.Pro192Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Pro304Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Pro309Leu Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Pro309Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Pro349Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Pro34Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Pro369Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Pro410Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Pro503fs Single submitter hereditary neoplastic syndrome ⚠
• p.Pro89= Single submitter hereditary neoplastic syndrome
• p.Ser11Ter Single submitter hereditary neoplastic syndrome ⚠
• p.Ser158Ile Single submitter fumaric aciduria ⚠
• p.Ser347Phe Single submitter hereditary neoplastic syndrome ⚠
• p.Ser399= Single submitter hereditary neoplastic syndrome
• p.Ser419Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Thr190Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Thr193Ile Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Thr236Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Thr260_Met266dup Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Thr281Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Thr474Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Thr481= Single submitter hereditary neoplastic syndrome
• p.Thr493= Single submitter hereditary neoplastic syndrome
• p.Tyr270Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr2Cys Single submitter fumaric aciduria ⚠
• p.Tyr2His Single submitter Inherited phaeochromocytoma and paraganglioma excluding NF1 ⚠
• p.Tyr2Ter Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr68Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr68Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Val139= Single submitter fumaric aciduria
• p.Val139Met Single submitter hereditary leiomyomatosis and renal cell cancer ⚠
• p.Val206Ile Single submitter FH-related disorder ⚠
• p.Val240Phe Single submitter hereditary neoplastic syndrome ⚠
• p.Val322Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Val33Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Val394Leu Single submitter Inherited renal cancer ⚠
• p.Val428Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Val435Met Single submitter fumaric aciduria ⚠
• p.Val62= Single submitter hereditary neoplastic syndrome
• p.Val73= Single submitter
• p.Val73Met Single submitter hereditary neoplastic syndrome ⚠

Benign 34

• c.1108+109G>A Multiple submitters
• c.1108+98C>A Multiple submitters
• c.268-22A>T Multiple submitters
• c.378+145G>A Multiple submitters
• c.379-17dup Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.555+148C>G Multiple submitters
• c.904+54G>A Multiple submitters
• p.Ala103= Multiple submitters hereditary neoplastic syndrome
• p.Cys434= Multiple submitters hereditary neoplastic syndrome
• p.Pro309= Multiple submitters fumaric aciduria
• c.1236+233T>C Single submitter
• c.1390+261T>C Single submitter
• c.1390+276G>A Single submitter
• c.1391-14del Single submitter
• c.267+235C>T Single submitter
• c.267+3_267+64dup Single submitter hereditary leiomyomatosis and renal cell cancer
• c.268-3del Single submitter
• c.738+265G>A Single submitter
• c.739-14del Single submitter
• c.739-23_739-19del Single submitter hereditary leiomyomatosis and renal cell cancer
• c.905-12del Single submitter
• c.*221_*222del Single submitter
• c.*4A>G Single submitter hereditary leiomyomatosis and renal cell cancer
• c.*7T>A Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Gly111= Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Gly29= Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Gly348= Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Ile197= Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Leu208= Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Pro177= Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Pro349= Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Pro509= Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Thr395= Single submitter hereditary leiomyomatosis and renal cell cancer
• p.Thr72= Single submitter hereditary leiomyomatosis and renal cell cancer

Benign/Likely benign 136

• c.1236+14C>T Multiple submitters hereditary neoplastic syndrome
• c.1237-14_1237-9dup Multiple submitters fumaric aciduria
• c.1237-18T>A Multiple submitters
• c.1237-50TC[23] Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1237-50TC[24] Multiple submitters hereditary neoplastic syndrome
• c.1237-50TC[25] Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1237-50TC[26] Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1237-50TC[27] Multiple submitters fumaric aciduria
• c.1237-50TC[29] Multiple submitters hereditary neoplastic syndrome
• c.1391-15T>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.267+8G>A Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.268-15del Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.379-17T>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.379-7dup Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.555+22dup Multiple submitters
• c.556-12A>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.739-10T>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.904+47G>A Multiple submitters fumaric aciduria
• c.905-12dup Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ala102= Multiple submitters hereditary neoplastic syndrome
• p.Ala128= Multiple submitters hereditary neoplastic syndrome
• p.Ala20= Multiple submitters hereditary neoplastic syndrome
• p.Ala200= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ala258= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ala298= Multiple submitters hereditary neoplastic syndrome
• p.Ala32= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ala327= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ala384= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ala4= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ala426= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ala486= Multiple submitters hereditary neoplastic syndrome
• p.Ala70= Multiple submitters hereditary neoplastic syndrome
• p.Ala9= Multiple submitters hereditary neoplastic syndrome
• p.Ala95= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Arg10= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Arg101= Multiple submitters hereditary neoplastic syndrome
• p.Arg51= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Asn118= Multiple submitters hereditary neoplastic syndrome
• p.Asn133= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Asn152= Multiple submitters hereditary neoplastic syndrome
• p.Asn159= Multiple submitters hereditary neoplastic syndrome
• p.Asn178= Multiple submitters hereditary neoplastic syndrome
• p.Asn284= Multiple submitters hereditary neoplastic syndrome
• p.Asn310= Multiple submitters hereditary neoplastic syndrome
• p.Asn40= Multiple submitters hereditary neoplastic syndrome
• p.Asn400= Multiple submitters fumaric aciduria
• p.Asn433= Multiple submitters hereditary neoplastic syndrome
• p.Asn441= Multiple submitters hereditary neoplastic syndrome
• p.Asn446= Multiple submitters hereditary neoplastic syndrome
• p.Asn478= Multiple submitters hereditary neoplastic syndrome
• p.Asp125= Multiple submitters hereditary neoplastic syndrome
• p.Asp319= Multiple submitters hereditary neoplastic syndrome
• p.Asp498= Multiple submitters hereditary neoplastic syndrome
• p.Gln108= Multiple submitters hereditary neoplastic syndrome
• p.Gln253= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Gln47= Multiple submitters hereditary neoplastic syndrome
• p.Glu362= Multiple submitters hereditary neoplastic syndrome
• p.Glu378= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Glu404= Multiple submitters hereditary neoplastic syndrome
• p.Glu53= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Gly167= Multiple submitters hereditary neoplastic syndrome
• p.Gly250= Multiple submitters hereditary neoplastic syndrome
• p.Gly288= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Gly352= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Gly364= Multiple submitters hereditary neoplastic syndrome
• p.Gly370= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Gly389= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Gly401= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.His180= Multiple submitters hereditary neoplastic syndrome
• p.His391= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.His418= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.His462= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.His476= Multiple submitters hereditary neoplastic syndrome
• p.Ile357= Multiple submitters hereditary neoplastic syndrome
• p.Ile438= Multiple submitters hereditary neoplastic syndrome
• p.Leu112= Multiple submitters hereditary neoplastic syndrome
• p.Leu14= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Leu207= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Leu211= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Leu28= Multiple submitters hereditary neoplastic syndrome
• p.Leu417= Multiple submitters hereditary neoplastic syndrome
• p.Leu448= Multiple submitters hereditary neoplastic syndrome
• p.Leu453= Multiple submitters hereditary neoplastic syndrome
• p.Leu455= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Leu60= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Lys100= Multiple submitters hereditary neoplastic syndrome
• p.Lys115= Multiple submitters hereditary neoplastic syndrome
• p.Lys122= Multiple submitters hereditary neoplastic syndrome
• p.Lys213= Multiple submitters hereditary neoplastic syndrome
• p.Lys223= Multiple submitters hereditary neoplastic syndrome
• p.Lys256= Multiple submitters hereditary neoplastic syndrome
• p.Lys409= Multiple submitters hereditary neoplastic syndrome
• p.Lys447= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Lys467= Multiple submitters hereditary neoplastic syndrome
• p.Lys470= Multiple submitters hereditary neoplastic syndrome
• p.Lys61= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Phe225= Multiple submitters hereditary neoplastic syndrome
• p.Phe248= Multiple submitters hereditary neoplastic syndrome
• p.Phe50= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Phe96= Multiple submitters hereditary neoplastic syndrome
• p.Pro18Leu Multiple submitters hereditary neoplastic syndrome
• p.Pro192= Multiple submitters hereditary neoplastic syndrome
• p.Pro26= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Pro26Leu Multiple submitters hereditary neoplastic syndrome
• p.Pro34= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Pro359= Multiple submitters hereditary neoplastic syndrome
• p.Pro461= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ser11= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ser145= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ser184= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ser186= Multiple submitters hereditary neoplastic syndrome
• p.Ser334= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ser347= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Ser35= Multiple submitters hereditary neoplastic syndrome
• p.Thr143= Multiple submitters hereditary neoplastic syndrome
• p.Thr236= Multiple submitters hereditary neoplastic syndrome
• p.Thr277= Multiple submitters hereditary neoplastic syndrome
• p.Thr307= Multiple submitters hereditary neoplastic syndrome
• p.Thr331= Multiple submitters hereditary neoplastic syndrome
• p.Thr431= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Thr442= Multiple submitters hereditary neoplastic syndrome
• p.Thr56= Multiple submitters hereditary neoplastic syndrome
• p.Thr76= Multiple submitters hereditary neoplastic syndrome
• p.Tyr110= Multiple submitters hereditary neoplastic syndrome
• p.Tyr2= Multiple submitters hereditary neoplastic syndrome
• p.Tyr257= Multiple submitters hereditary neoplastic syndrome
• p.Tyr270= Multiple submitters hereditary neoplastic syndrome
• p.Tyr68= Multiple submitters hereditary neoplastic syndrome
• p.Val153= Multiple submitters hereditary neoplastic syndrome
• p.Val156= Multiple submitters hereditary neoplastic syndrome
• p.Val255= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Val387= Multiple submitters hereditary neoplastic syndrome
• p.Val396= Multiple submitters hereditary leiomyomatosis and renal cell cancer
• p.Val435= Multiple submitters hereditary neoplastic syndrome
• p.Val436= Multiple submitters hereditary neoplastic syndrome
• p.Val501= Multiple submitters hereditary neoplastic syndrome

Likely benign 481

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

• c.1108+10T>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1108+7A>G Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1108+8C>A Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1109-15G>A Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1109-15G>T Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1109-19A>G Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1109-20C>T Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1236+14C>A Multiple submitters
• c.1236+8T>G Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1237-15CTCA[2] Multiple submitters hereditary neoplastic syndrome
• c.1237-4A>G Multiple submitters hereditary neoplastic syndrome
• c.1237-50TC[13] Multiple submitters
• c.1237-50TC[14] Multiple submitters
• c.1237-50TC[16] Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1237-50TC[17] Multiple submitters hereditary neoplastic syndrome
• c.1237-50TC[18] Multiple submitters hereditary neoplastic syndrome
• c.1237-50TC[28] Multiple submitters hereditary neoplastic syndrome
• c.1237-5C>T Multiple submitters hereditary neoplastic syndrome
• c.1237-9C>T Multiple submitters
• c.132+19C>T Multiple submitters
• c.132+20C>T Multiple submitters
• c.132+71C>A Multiple submitters
• c.132+7G>A Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.133-10T>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.133-16G>A Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.133-4T>C Multiple submitters hereditary neoplastic syndrome
• c.133-8G>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1391-11T>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1391-13A>G Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1391-158A>T Multiple submitters
• c.1391-16T>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.1391-18T>G Multiple submitters
• c.1391-4T>C Multiple submitters hereditary neoplastic syndrome
• c.267+10A>G Multiple submitters
• c.267+10del Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.267+7G>A Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.268-12G>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.378+15G>A Multiple submitters
• c.379-16A>G Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.379-4G>A Multiple submitters hereditary neoplastic syndrome
• c.379-4G>T Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.555+11G>A Multiple submitters
• c.555+17T>C Multiple submitters
• c.555+9del Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.556-17T>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.556-18T>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.556-5A>G Multiple submitters hereditary neoplastic syndrome
• c.556-6C>T Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.738+19T>C Multiple submitters
• c.738+7G>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.738+9G>T Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.739-9T>C Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.904+13G>A Multiple submitters
• c.904+9T>A Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.905-17A>G Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.905-20G>T Multiple submitters hereditary leiomyomatosis and renal cell cancer
• c.-10C>T Multiple submitters
• p.Ala23= Multiple submitters hereditary neoplastic syndrome
• p.Ala295= Multiple submitters hereditary neoplastic syndrome
• p.Ala299= Multiple submitters hereditary neoplastic syndrome
• p.Ala308= Multiple submitters hereditary neoplastic syndrome
• p.Ala314= Multiple submitters hereditary neoplastic syndrome
• p.Ala317= Multiple submitters hereditary neoplastic syndrome
• p.Ala385= Multiple submitters hereditary neoplastic syndrome
• p.Ala472= Multiple submitters hereditary neoplastic syndrome
• p.Arg12= Multiple submitters hereditary neoplastic syndrome
• p.Arg261= Multiple submitters hereditary neoplastic syndrome
• p.Arg350= Multiple submitters hereditary neoplastic syndrome
• p.Arg444= Multiple submitters hereditary neoplastic syndrome
• p.Arg6= Multiple submitters hereditary neoplastic syndrome
• p.Asn154= Multiple submitters hereditary neoplastic syndrome
• p.Asn182= Multiple submitters hereditary neoplastic syndrome
• p.Asn329= Multiple submitters hereditary neoplastic syndrome
• p.Asn340= Multiple submitters hereditary neoplastic syndrome
• p.Asp238= Multiple submitters hereditary neoplastic syndrome
• p.Asp341= Multiple submitters hereditary neoplastic syndrome
• p.Asp466= Multiple submitters hereditary neoplastic syndrome
• p.Gln142= Multiple submitters hereditary neoplastic syndrome
• p.Gln148= Multiple submitters hereditary neoplastic syndrome
• p.Gln237= Multiple submitters hereditary neoplastic syndrome
• p.Glu205= Multiple submitters hereditary neoplastic syndrome
• p.Gly144= Multiple submitters hereditary neoplastic syndrome
• p.Gly245= Multiple submitters hereditary neoplastic syndrome
• p.His235= Multiple submitters fumaric aciduria
• p.Ile228= Multiple submitters hereditary neoplastic syndrome
• p.Ile229= Multiple submitters hereditary neoplastic syndrome
• p.Ile287= Multiple submitters hereditary neoplastic syndrome
• p.Leu138= Multiple submitters hereditary neoplastic syndrome
• p.Leu169= Multiple submitters hereditary neoplastic syndrome
• p.Leu218= Multiple submitters hereditary neoplastic syndrome
• p.Leu335= Multiple submitters hereditary neoplastic syndrome
• p.Leu405= Multiple submitters hereditary neoplastic syndrome
• p.Leu423= Multiple submitters hereditary neoplastic syndrome
• p.Leu482= Multiple submitters hereditary neoplastic syndrome
• p.Leu489= Multiple submitters hereditary neoplastic syndrome
• p.Leu492= Multiple submitters hereditary neoplastic syndrome
• p.Leu5= Multiple submitters hereditary neoplastic syndrome
• p.Leu7= Multiple submitters hereditary neoplastic syndrome
• p.Leu8= Multiple submitters hereditary neoplastic syndrome
• p.Lys473= Multiple submitters hereditary neoplastic syndrome
• p.Phe312= Multiple submitters hereditary neoplastic syndrome
• p.Phe57= Multiple submitters hereditary neoplastic syndrome
• p.Phe79= Multiple submitters hereditary neoplastic syndrome
• p.Pro13= Multiple submitters hereditary neoplastic syndrome
• p.Pro18= Multiple submitters hereditary neoplastic syndrome
• p.Pro304= Multiple submitters hereditary neoplastic syndrome
• p.Pro39= Multiple submitters hereditary neoplastic syndrome
• p.Pro410= Multiple submitters hereditary neoplastic syndrome
• p.Pro91= Multiple submitters hereditary neoplastic syndrome
• p.Ser366= Multiple submitters
• p.Ser429= Multiple submitters hereditary neoplastic syndrome
• p.Ser46= Multiple submitters hereditary neoplastic syndrome
• p.Ser75= Multiple submitters hereditary neoplastic syndrome
• p.Thr243= Multiple submitters hereditary neoplastic syndrome
• p.Thr285= Multiple submitters
• p.Thr330= Multiple submitters hereditary neoplastic syndrome
• p.Thr457= Multiple submitters hereditary neoplastic syndrome
• p.Thr474= Multiple submitters hereditary neoplastic syndrome
• p.Thr485= Multiple submitters hereditary neoplastic syndrome
• p.Thr85= Multiple submitters hereditary neoplastic syndrome
• p.Tyr251= Multiple submitters hereditary neoplastic syndrome
• p.Val106= Multiple submitters hereditary neoplastic syndrome
• p.Val140= Multiple submitters hereditary neoplastic syndrome
• p.Val15= Multiple submitters hereditary neoplastic syndrome
• p.Val175= Multiple submitters hereditary neoplastic syndrome
• p.Val181= Multiple submitters hereditary neoplastic syndrome
• p.Val240= Multiple submitters hereditary neoplastic syndrome
• p.Val293= Multiple submitters hereditary neoplastic syndrome
• p.Val416= Multiple submitters hereditary neoplastic syndrome
• p.Val456= Multiple submitters hereditary neoplastic syndrome
• p.Val92= Multiple submitters hereditary neoplastic syndrome
• c.1108+10T>A Single submitter
• c.1108+14T>C Single submitter
• c.1108+15A>C Single submitter
• c.1108+16G>T Single submitter
• c.1108+18A>G Single submitter
• c.1108+19A>G Single submitter
• c.1108+261C>T Single submitter
• c.1108+8C>T Single submitter
• c.1108+9A>T Single submitter
• c.1109-10T>A Single submitter
• c.1109-12G>A Single submitter
• c.1109-15G>C Single submitter
• c.1109-17T>C Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1109-18T>C Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1109-19A>C Single submitter
• c.1109-35_1109-34del Single submitter
• c.1236+13T>C Single submitter
• c.1236+15T>C Single submitter
• c.1236+16G>C Single submitter
• c.1236+16G>T Single submitter
• c.1236+19T>G Single submitter
• c.1236+23A>G Single submitter
• c.1236+26G>A Single submitter
• c.1236+292T>C Single submitter
• c.1236+346_1236+355del Single submitter
• c.1237-10_1237-9dup Single submitter
• c.1237-10T>C Single submitter
• c.1237-12_1237-11del Single submitter
• c.1237-13_1237-12insCTCTCTCA Single submitter
• c.1237-13_1237-12insCTCTCTCTCA Single submitter hereditary neoplastic syndrome
• c.1237-13_1237-12insCTCTCTCTCTCA Single submitter fumaric aciduria
• c.1237-13_1237-12insCTCTCTCTCTCTCTCA Single submitter hereditary neoplastic syndrome
• c.1237-13_1237-12insTT Single submitter
• c.1237-13C>T Single submitter
• c.1237-14_1237-9del Single submitter
• c.1237-16_1237-9del Single submitter
• c.1237-16_1237-9dup Single submitter
• c.1237-16T>A Single submitter
• c.1237-4A>C Single submitter
• c.1237-5_1237-4insCTCTCCCTCC Single submitter
• c.1237-50TC[31] Single submitter
• c.1237-50TC[32] Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1237-6_1237-5insACTT Single submitter
• c.1237-8A>T Single submitter
• c.1237-9_1237-8insCTCTCT Single submitter
• c.1237-9_1237-8insCTCTCTCC Single submitter
• c.1237-9_1237-8insCTCTCTCG Single submitter
• c.1237-9_1237-8insCTCTCTCT Single submitter
• c.1237-9_1237-8insCTCTCTCTCC Single submitter
• c.1237-9_1237-8insCTCTCTCTCT Single submitter
• c.1237-9_1237-8insCTCTCTCTCTCC Single submitter
• c.1237-9_1237-8insCTCTCTCTCTCTCT Single submitter
• c.1237-9_1237-8insCTCTCTCTCTCTCTCT Single submitter
• c.1237-9_1237-8insCTCTCTCTCTCTCTCTCT Single submitter
• c.132+10G>A Single submitter
• c.132+10G>T Single submitter
• c.132+12C>G Single submitter
• c.132+12C>T Single submitter
• c.132+13C>A Single submitter
• c.132+13C>T Single submitter
• c.132+14G>A Single submitter
• c.132+15C>T Single submitter
• c.132+16C>T Single submitter
• c.132+16del Single submitter
• c.132+178G>A Single submitter
• c.132+17A>G Single submitter
• c.132+19C>A Single submitter
• c.132+20C>A Single submitter
• c.132+35A>G Single submitter
• c.132+7G>T Single submitter
• c.133-11C>T Single submitter
• c.133-14A>C Single submitter
• c.133-15T>C Single submitter
• c.133-20T>C Single submitter
• c.133-30C>T Single submitter
• c.133-5T>C Single submitter
• c.133-6C>G Single submitter
• c.133-7T>C Single submitter
• c.1390+17T>C Single submitter
• c.1390+36G>A Single submitter
• c.1390+4A>G Single submitter hereditary neoplastic syndrome
• c.1390+50C>T Single submitter
• c.1390+6T>C Single submitter fumaric aciduria
• c.1390+9T>A Single submitter
• c.1390+9T>C Single submitter
• c.1391-13_1391-11del Single submitter
• c.1391-13A>T Single submitter
• c.1391-14dup Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1391-17T>A Single submitter
• c.1391-17T>C Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1391-17T>G Single submitter
• c.1391-19C>A Single submitter
• c.1391-19C>G Single submitter
• c.1391-22C>T Single submitter
• c.1391-285A>G Single submitter
• c.1391-40C>G Single submitter
• c.1391-6C>A Single submitter
• c.1391-7dup Single submitter hereditary leiomyomatosis and renal cell cancer
• c.1391-9T>G Single submitter
• c.267+13dup Single submitter
• c.267+14G>A Single submitter
• c.267+14G>T Single submitter
• c.267+241C>T Single submitter
• c.267+28T>C Single submitter
• c.268-12G>A Single submitter hereditary leiomyomatosis and renal cell cancer
• c.268-16T>G Single submitter
• c.268-18T>A Single submitter
• c.268-21_268-8del Single submitter
• c.268-3T>C Single submitter
• c.268-6T>A Single submitter
• c.268-7_268-6del Single submitter
• c.268-7A>T Single submitter
• c.378+10G>A Single submitter
• c.378+11A>T Single submitter
• c.378+12del Single submitter
• c.378+12T>A Single submitter
• c.378+12T>C Single submitter
• c.378+14A>T Single submitter
• c.378+16T>G Single submitter
• c.378+17G>A Single submitter
• c.378+17G>T Single submitter
• c.378+19G>A Single submitter
• c.378+35C>G Single submitter
• c.378+50C>T Single submitter
• c.378+6A>G Single submitter fumaric aciduria
• c.378+7G>A Single submitter
• c.378+8G>A Single submitter
• c.378+8G>C Single submitter
• c.379-10T>C Single submitter hereditary leiomyomatosis and renal cell cancer
• c.379-10T>G Single submitter
• c.379-12T>C Single submitter
• c.379-13A>G Single submitter
• c.379-16A>T Single submitter
• c.379-19T>C Single submitter
• c.379-214A>G Single submitter
• c.379-49G>A Single submitter
• c.555+10T>C Single submitter
• c.555+13G>A Single submitter
• c.555+14_555+16del Single submitter
• c.555+17T>G Single submitter
• c.555+19C>A Single submitter
• c.555+19C>T Single submitter
• c.555+206A>G Single submitter
• c.555+20T>A Single submitter
• c.555+20T>C Single submitter
• c.555+7A>G Single submitter fumaric aciduria
• c.555+8T>A Single submitter
• c.555+8T>C Single submitter
• c.555+9_555+10insA Single submitter
• c.555+9G>A Single submitter
• c.555+9G>T Single submitter
• c.556-10T>C Single submitter hereditary leiomyomatosis and renal cell cancer
• c.556-14A>C Single submitter
• c.556-19T>G Single submitter
• c.556-281A>T Single submitter
• c.556-28T>C Single submitter
• c.556-5A>C Single submitter
• c.556-6C>G Single submitter
• c.556-7C>T Single submitter
• c.556-9T>C Single submitter
• c.738+11T>C Single submitter
• c.738+13del Single submitter
• c.738+13G>T Single submitter
• c.738+15C>T Single submitter
• c.738+17A>G Single submitter
• c.738+20T>C Single submitter
• c.738+9G>A Single submitter
• c.739-10T>G Single submitter
• c.739-12T>C Single submitter