"AiLife Diagnostics, AiLife Diagnostics"[submitter] AND "MYH6"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 392233	NM_002471.4(MYH6):c.5696G>A (p.Arg1899His)	MYH6 (R1899H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1677799	NM_002471.4(MYH6):c.5662-2A>G	MYH6	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 520363	NM_002471.4(MYH6):c.5660C>T (p.Ala1887Val)	MYH6 (A1887V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 470550	NM_002471.4(MYH6):c.5575G>A (p.Asp1859Asn)	MYH6 (D1859N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1677461	NM_002471.4(MYH6):c.5513_5525del (p.Glu1837_Ser1838insTer)	MYH6	Deletion (nonsense)	not provided	GUncertain significance
Select item 1677602	NM_002471.4(MYH6):c.5420T>C (p.Leu1807Pro)	MYH6 (L1807P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678401	NM_002471.4(MYH6):c.5264A>G (p.Glu1755Gly)	MYH6 (E1755G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 178868	NM_002471.4(MYH6):c.5072G>A (p.Arg1691His)	LOC126861896, MYH6 (R1691H)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +8 more	GUncertain significance
Select item 650479	NM_002471.4(MYH6):c.4834G>A (p.Glu1612Lys)	LOC126861896, MYH6 (E1612K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 928728	NM_002471.4(MYH6):c.4798C>A (p.Gln1600Lys)	LOC126861896, MYH6 (Q1600K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 870081	NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu)	LOC126861896, MYH6 (R1562L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +7 more	GUncertain significance
Select item 1677552	NM_002471.4(MYH6):c.4627C>A (p.Gln1543Lys)	MYH6 (Q1543K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677447	NM_002471.4(MYH6):c.4504C>T (p.Arg1502Trp)	MYH6 (R1502W)	Single nucleotide variant (missense variant)	MYH6-related condition +2 more	GUncertain significance
Select item 1302497	NM_002471.4(MYH6):c.4345A>G (p.Arg1449Gly)	MYH6 (R1449G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 518908	NM_002471.4(MYH6):c.4325C>T (p.Ala1442Val)	MYH6 (A1442V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1677553	NM_002471.4(MYH6):c.4313A>T (p.Asn1438Ile)	MYH6 (N1438I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 953188	NM_002471.4(MYH6):c.4267C>A (p.Leu1423Ile)	MYH6 (L1423I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1054452	NM_002471.4(MYH6):c.4168G>A (p.Glu1390Lys)	MYH6 (E1390K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 1677816	NM_002471.4(MYH6):c.3878T>A (p.Leu1293Gln)	MYH6 (L1293Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44488	NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys)	MYH6 (E1207K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 265832	NM_002471.4(MYH6):c.3607dup (p.Ala1203fs)	MYH6 (A1203fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 1677471	NM_002471.4(MYH6):c.3533G>A (p.Arg1178Gln)	MYH6 (R1178Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1677463	NM_002471.4(MYH6):c.3443T>C (p.Ile1148Thr)	MYH6 (I1148T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677566	NM_002471.4(MYH6):c.3412C>A (p.Arg1138Ser)	MYH6 (R1138S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 520322	NM_002471.4(MYH6):c.3139C>T (p.Arg1047Cys)	MYH6 (R1047C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 1677515	NM_002471.4(MYH6):c.3112G>A (p.Gly1038Arg)	MYH6 (G1038R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 581153	NM_002471.4(MYH6):c.2965G>A (p.Glu989Lys)	MYH6 (E989K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 1284281	NM_002471.4(MYH6):c.2951T>C (p.Met984Thr)	MYH6 (M984T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 1677822	NM_002471.4(MYH6):c.2827C>A (p.Arg943Ser)	MYH6 (R943S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377388	NM_002471.4(MYH6):c.2716C>A (p.Arg906Ser)	MYH6 (R906S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 263991	NM_002471.4(MYH6):c.2554G>A (p.Ala852Thr)	MYH6 (A852T)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1677754	NM_002471.4(MYH6):c.2519C>T (p.Pro840Leu)	MYH6 (P840L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677715	NM_002471.4(MYH6):c.2503T>C (p.Tyr835His)	MYH6 (Y835H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677826	NM_002471.4(MYH6):c.2293-2A>C	MYH6	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1EE +5 more	GUncertain significance
Select item 1677898	NM_002471.4(MYH6):c.2249C>A (p.Ser750Tyr)	MYH6 (S750Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678435	NM_002471.4(MYH6):c.2140C>T (p.Arg714Cys)	MYH6 (R714C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 936597	NM_002471.4(MYH6):c.2098G>A (p.Val700Met)	MYH6 (V700M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1677592	NM_002471.4(MYH6):c.1961G>A (p.Arg654Gln)	MYH6 (R654Q)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1032061	NM_002471.4(MYH6):c.1578G>C (p.Glu526Asp)	MYH6 (E526D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 44454	NM_002471.4(MYH6):c.1535T>C (p.Ile512Thr)	MYH6 (I512T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GUncertain significance
Select item 1677846	NM_002471.4(MYH6):c.1507A>G (p.Lys503Glu)	MYH6 (K503E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677658	NM_002471.4(MYH6):c.1462C>G (p.Gln488Glu)	MYH6 (Q488E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677464	NM_002471.4(MYH6):c.1403T>A (p.Ile468Asn)	MYH6 (I468N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 407154	NM_002471.4(MYH6):c.1316G>A (p.Trp439Ter)	MYH6 (W439*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1677844	NM_002471.4(MYH6):c.1308G>A (p.Met436Ile)	MYH6 (M436I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1677719	NM_002471.4(MYH6):c.1118A>G (p.Gln373Arg)	MYH6 (Q373R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677726	NM_002471.4(MYH6):c.1002+1G>T	MYH6	Single nucleotide variant (splice donor variant)	not provided +5 more	GUncertain significance
Select item 44547	NM_002471.4(MYH6):c.928G>A (p.Asp310Asn)	MYH6 (D310N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 537949	NM_002471.4(MYH6):c.756C>G (p.His252Gln)	MYH6 (H252Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 191721	NM_002471.4(MYH6):c.731G>A (p.Arg244His)	MYH6 (R244H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1677502	NM_002471.4(MYH6):c.530C>T (p.Thr177Met)	LOC114827851, MYH6 (T177M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 1032062	NM_002471.4(MYH6):c.493A>T (p.Met165Leu)	LOC114827851, MYH6 (M165L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1052381	NM_002471.4(MYH6):c.353C>T (p.Ser118Leu)	LOC114827851, MYH6 (S118L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 1677485	NM_002471.4(MYH6):c.325T>C (p.Tyr109His)	LOC114827851, MYH6 (Y109H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 44474	NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)	LOC114827851, MYH6 (E98K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 1023317	NM_002471.4(MYH6):c.268A>G (p.Met90Val)	LOC114827851, MYH6 (M90V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance

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Items: 56