"GeneDx"[submitter] AND "MYH6"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 177988	NM_002471.4(MYH6):c.*8T>C	MYH6	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign/Likely benign
Select item 239180	NM_002471.4(MYH6):c.5809G>A (p.Asp1937Asn)	MYH6 (D1937N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1695783	NM_002471.4(MYH6):c.5803dup (p.Met1935fs)	MYH6 (M1935fs)	Duplication (frameshift variant)	not provided +2 more	GUncertain significance
Select item 1327358	NM_002471.4(MYH6):c.5788G>C (p.Gly1930Arg)	MYH6 (G1930R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 646238	NM_002471.4(MYH6):c.5779C>T (p.Arg1927Cys)	MYH6 (R1927C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1315174	NM_002471.4(MYH6):c.5714T>C (p.Leu1905Pro)	MYH6 (L1905P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373756	NM_002471.4(MYH6):c.5710G>A (p.Glu1904Lys)	MYH6 (E1904K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392233	NM_002471.4(MYH6):c.5696G>A (p.Arg1899His)	MYH6 (R1899H)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 2574819	NM_002471.4(MYH6):c.5662G>C (p.Glu1888Gln)	MYH6 (E1888Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 578698	NM_002471.4(MYH6):c.5661G>A (p.Ala1887=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 537966	NM_002471.4(MYH6):c.5653G>A (p.Glu1885Lys)	MYH6 (E1885K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +3 more	GUncertain significance
Select item 312839	NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +4 more	GConflicting classifications of pathogenicity
Select item 978747	NM_002471.4(MYH6):c.5645G>A (p.Arg1882His)	MYH6 (R1882H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 519136	NM_002471.4(MYH6):c.5635G>A (p.Ala1879Thr)	MYH6 (A1879T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 582103	NM_002471.4(MYH6):c.5627A>G (p.Lys1876Arg)	MYH6 (K1876R)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 263989	NM_002471.4(MYH6):c.5601G>A (p.Gln1867=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +2 more	GBenign/Likely benign
Select item 258715	NM_002471.4(MYH6):c.5598A>G (p.Leu1866=)	MYH6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 520531	NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln)	MYH6 (R1865Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 684811	NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp)	MYH6 (R1865W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 1218642	NM_002471.4(MYH6):c.5587C>T (p.Leu1863=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +6 more	GLikely benign
Select item 1748444	NM_002471.4(MYH6):c.5586C>G (p.Asn1862Lys)	MYH6 (N1862K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 312841	NM_002471.4(MYH6):c.5566-7C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 518952	NM_002471.4(MYH6):c.5544C>T (p.Arg1848=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 264214	NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg)	MYH6 (K1840R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +8 more	GUncertain significance
Select item 164212	NM_002471.4(MYH6):c.5514G>T (p.Ser1838=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1027640	NM_002471.4(MYH6):c.5513C>G (p.Ser1838Trp)	MYH6 (S1838W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 512708	NM_002471.4(MYH6):c.5505C>T (p.Asn1835=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 312842	NM_002471.4(MYH6):c.5500C>T (p.Arg1834Cys)	MYH6 (R1834C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 196975	NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys)	MYH6 (E1831K)	Single nucleotide variant (missense variant)	Long QT syndrome +7 more	GUncertain significance
Select item 513603	NM_002471.4(MYH6):c.5490C>T (p.Ala1830=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 179101	NM_002471.4(MYH6):c.5485G>C (p.Glu1829Gln)	MYH6 (E1829Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 1397998	NM_002471.4(MYH6):c.5477G>T (p.Gly1826Val)	MYH6 (G1826V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 239179	NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn)	MYH6 (G1826N)	Indel (missense variant)	Conduction disorder of the heart +4 more	GConflicting classifications of pathogenicity
Select item 44537	NM_002471.4(MYH6):c.5475G>A (p.Glu1825=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign
Select item 228897	NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp)	MYH6 (R1820W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 44536	NM_002471.4(MYH6):c.5439G>A (p.Gln1813=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +4 more	GBenign/Likely benign
Select item 312843	NM_002471.4(MYH6):c.5410C>A (p.Gln1804Lys)	MYH6 (Q1804K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GBenign/Likely benign
Select item 2631351	NM_002471.4(MYH6):c.5404G>A (p.Ala1802Thr)	MYH6 (A1802T)	Single nucleotide variant (missense variant)	MYH6-related disorder +1 more	GUncertain significance
Select item 312844	NM_002471.4(MYH6):c.5403G>A (p.Glu1801=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 44535	NM_002471.4(MYH6):c.5400C>T (p.Asp1800=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1496424	NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp)	MYH6 (R1798W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 222718	NM_002471.4(MYH6):c.5336C>A (p.Ala1779Asp)	MYH6 (A1779D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +3 more	GUncertain significance
Select item 1503013	NM_002471.4(MYH6):c.5293G>T (p.Ala1765Ser)	MYH6 (A1765S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 44533	NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)	MYH6 (A1765T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GConflicting classifications of pathogenicity
Select item 511167	NM_002471.4(MYH6):c.5290-11C>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 807073	NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr)	MYH6 (A1760T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 515658	NM_002471.4(MYH6):c.5271C>T (p.Ala1757=)	MYH6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 432437	NM_002471.4(MYH6):c.5267A>G (p.Lys1756Arg)	MYH6 (K1756R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1428499	NM_002471.4(MYH6):c.5260G>C (p.Glu1754Gln)	MYH6 (E1754Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 642846	NM_002471.4(MYH6):c.5260G>A (p.Glu1754Lys)	MYH6 (E1754K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 44532	NM_002471.4(MYH6):c.5259C>T (p.Ala1753=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 520532	NM_002471.4(MYH6):c.5257G>C (p.Ala1753Pro)	MYH6 (A1753P)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 1309841	NM_002471.4(MYH6):c.5228T>C (p.Val1743Ala)	MYH6 (V1743A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 519104	NM_002471.4(MYH6):c.5201C>T (p.Ser1734Leu)	MYH6 (S1734L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GConflicting classifications of pathogenicity
Select item 851153	NM_002471.4(MYH6):c.5196G>A (p.Met1732Ile)	MYH6 (M1732I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 391915	NM_002471.4(MYH6):c.5163+3G>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 239178	NM_002471.4(MYH6):c.5140C>A (p.Arg1714=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 263451	NM_002471.4(MYH6):c.5137G>A (p.Glu1713Lys)	LOC126861896, MYH6 (E1713K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 2444779	NM_002471.4(MYH6):c.5136C>G (p.Ser1712Arg)	LOC126861896, MYH6 (S1712R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304949	NM_002471.4(MYH6):c.5136C>A (p.Ser1712Arg)	MYH6, LOC126861896 (S1712R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227592	NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +3 more	GBenign/Likely benign
Select item 537951	NM_002471.4(MYH6):c.5102G>A (p.Arg1701Gln)	LOC126861896, MYH6 (R1701Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 695785	NM_002471.4(MYH6):c.5085G>A (p.Glu1695=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +2 more	GLikely benign
Select item 373555	NM_002471.4(MYH6):c.5077G>A (p.Val1693Met)	LOC126861896, MYH6 (V1693M)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 178868	NM_002471.4(MYH6):c.5072G>A (p.Arg1691His)	LOC126861896, MYH6 (R1691H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 1058042	NM_002471.4(MYH6):c.5035C>T (p.Arg1679Cys)	LOC126861896, MYH6 (R1679C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 568765	NM_002471.4(MYH6):c.5033G>A (p.Arg1678Gln)	LOC126861896, MYH6 (R1678Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 861577	NM_002471.4(MYH6):c.5026G>A (p.Val1676Met)	LOC126861896, MYH6 (V1676M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1398688	NM_002471.4(MYH6):c.5002G>C (p.Asp1668His)	LOC126861896, MYH6 (D1668H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 1507368	NM_002471.4(MYH6):c.4993G>A (p.Ala1665Thr)	LOC126861896, MYH6 (A1665T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 44529	NM_002471.4(MYH6):c.4986G>A (p.Ala1662=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 44528	NM_002471.4(MYH6):c.4980C>T (p.Asp1660=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 179576	NM_002471.4(MYH6):c.4960-9G>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +7 more	GBenign
Select item 36632	NM_002471.4(MYH6):c.4960-17A>T	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +2 more	GBenign
Select item 36631	NM_002471.4(MYH6):c.4959+13G>A	MYH6, LOC126861896	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 44527	NM_002471.4(MYH6):c.4959+12C>T	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 1284546	NM_002471.4(MYH6):c.4955T>C (p.Leu1652Pro)	LOC126861896, MYH6 (L1652P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1010124	NM_002471.4(MYH6):c.4949G>A (p.Ser1650Asn)	LOC126861896, MYH6 (S1650N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2575613	NM_002471.4(MYH6):c.4942C>T (p.Leu1648Phe)	LOC126861896, MYH6 (L1648F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44526	NM_002471.4(MYH6):c.4914T>C (p.Ala1638=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 44525	NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys)	LOC126861896, MYH6 (R1636C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 178065	NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +3 more	GConflicting classifications of pathogenicity
Select item 936556	NM_002471.4(MYH6):c.4900G>A (p.Ala1634Thr)	LOC126861896, MYH6 (A1634T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 44524	NM_002471.4(MYH6):c.4899C>T (p.His1633=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 849171	NM_002471.4(MYH6):c.4874A>G (p.Asn1625Ser)	LOC126861896, MYH6 (N1625S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 44522	NM_002471.4(MYH6):c.4838T>C (p.Val1613Ala)	LOC126861896, MYH6 (V1613A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 650479	NM_002471.4(MYH6):c.4834G>A (p.Glu1612Lys)	LOC126861896, MYH6 (E1612K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 470545	NM_002471.4(MYH6):c.4833C>T (p.Asn1611=)	MYH6, LOC126861896	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +6 more	GLikely benign
Select item 312849	NM_002471.4(MYH6):c.4829G>A (p.Arg1610His)	LOC126861896, MYH6 (R1610H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 373551	NM_002471.4(MYH6):c.4823G>A (p.Arg1608His)	LOC126861896, MYH6 (R1608H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 191710	NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys)	LOC126861896, MYH6 (R1608C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 518175	NM_002471.4(MYH6):c.4812T>C (p.Asp1604=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 928728	NM_002471.4(MYH6):c.4798C>A (p.Gln1600Lys)	LOC126861896, MYH6 (Q1600K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 3370779	NM_002471.4(MYH6):c.4786G>T (p.Val1596Leu)	LOC126861896, MYH6 (V1596L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44521	NM_002471.4(MYH6):c.4782G>A (p.Arg1594=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1211564	NM_002471.4(MYH6):c.4781G>A (p.Arg1594Gln)	LOC126861896, MYH6 (R1594Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 44520	NM_002471.4(MYH6):c.4778A>T (p.Gln1593Leu)	LOC126861896, MYH6 (Q1593L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign
Select item 44519	NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser)	LOC126861896, MYH6 (N1591S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 520529	NM_002471.4(MYH6):c.4768C>A (p.Arg1590Ser)	LOC126861896, MYH6 (R1590S)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GUncertain significance

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