"Ambry Genetics"[submitter] AND "MYH6"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 239180	NM_002471.4(MYH6):c.5809G>A (p.Asp1937Asn)	MYH6 (D1937N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 955979	NM_002471.4(MYH6):c.5805G>T (p.Met1935Ile)	MYH6 (M1935I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 1749678	NM_002471.4(MYH6):c.5796+4G>A	MYH6	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 566642	NM_002471.4(MYH6):c.5794A>T (p.Lys1932Ter)	MYH6 (K1932*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 1749671	NM_002471.4(MYH6):c.5792C>T (p.Ala1931Val)	MYH6 (A1931V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2624864	NM_002471.4(MYH6):c.5791G>A (p.Ala1931Thr)	MYH6 (A1931T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 180428	NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu)	MYH6 (R1927L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 264622	NM_002471.4(MYH6):c.5767C>T (p.Arg1923Ter)	MYH6 (R1923*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1749399	NM_002471.4(MYH6):c.5743G>A (p.Ala1915Thr)	MYH6 (A1915T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 179021	NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val)	MYH6 (A1912V)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +6 more	GUncertain significance
Select item 1135237	NM_002471.4(MYH6):c.5730G>A (p.Glu1910=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1749268	NM_002471.4(MYH6):c.5718T>C (p.Asp1906=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 537945	NM_002471.4(MYH6):c.5694C>G (p.Phe1898Leu)	MYH6 (F1898L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 263719	NM_002471.4(MYH6):c.5692T>G (p.Phe1898Val)	MYH6 (F1898V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1360781	NM_002471.4(MYH6):c.5690A>G (p.Lys1897Arg)	MYH6 (K1897R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 2452927	NM_002471.4(MYH6):c.5677A>G (p.Thr1893Ala)	MYH6 (T1893A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 642093	NM_002471.4(MYH6):c.5656G>A (p.Glu1886Lys)	MYH6 (E1886K)	Single nucleotide variant (missense 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)	MYH6-related condition +5 more	GConflicting classifications of pathogenicity
Select item 978747	NM_002471.4(MYH6):c.5645G>A (p.Arg1882His)	MYH6 (R1882H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2085502	NM_002471.4(MYH6):c.5644C>T (p.Arg1882Cys)	MYH6 (R1882C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 496160	NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg)	MYH6 (K1881R)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 519136	NM_002471.4(MYH6):c.5635G>A (p.Ala1879Thr)	MYH6 (A1879T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2305939	NM_002471.4(MYH6):c.5629G>A (p.Val1877Ile)	MYH6 (V1877I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1414226	NM_002471.4(MYH6):c.5628G>T (p.Lys1876Asn)	MYH6 (K1876N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 582103	NM_002471.4(MYH6):c.5627A>G (p.Lys1876Arg)	MYH6 (K1876R)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +6 more	GUncertain significance
Select item 263989	NM_002471.4(MYH6):c.5601G>A (p.Gln1867=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 258715	NM_002471.4(MYH6):c.5598A>G (p.Leu1866=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign
Select item 520531	NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln)	MYH6 (R1865Q)	Single nucleotide variant (missense variant)	MYH6-related condition +8 more	GUncertain significance
Select item 684811	NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp)	MYH6 (R1865W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1218642	NM_002471.4(MYH6):c.5587C>T (p.Leu1863=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 1748444	NM_002471.4(MYH6):c.5586C>G (p.Asn1862Lys)	MYH6 (N1862K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2605808	NM_002471.4(MYH6):c.5581A>G (p.Lys1861Glu)	MYH6 (K1861E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 470548	NM_002471.4(MYH6):c.5553G>A (p.Glu1851=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1748244	NM_002471.4(MYH6):c.5551G>A (p.Glu1851Lys)	MYH6 (E1851K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447211	NM_002471.4(MYH6):c.5547C>T (p.Ile1849=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 518952	NM_002471.4(MYH6):c.5544C>T (p.Arg1848=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +2 more	GLikely benign
Select item 518955	NM_002471.4(MYH6):c.5542C>T (p.Arg1848Cys)	MYH6 (R1848C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 264189	NM_002471.4(MYH6):c.5540G>A (p.Arg1847Gln)	MYH6 (R1847Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1748171	NM_002471.4(MYH6):c.5536G>A (p.Glu1846Lys)	MYH6 (E1846K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1403605	NM_002471.4(MYH6):c.5524A>G (p.Met1842Val)	MYH6 (M1842V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2567210	NM_002471.4(MYH6):c.5520G>A (p.Lys1840=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 264214	NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg)	MYH6 (K1840R)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1748056	NM_002471.4(MYH6):c.5517G>A (p.Val1839=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1748053	NM_002471.4(MYH6):c.5514G>A (p.Ser1838=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 164212	NM_002471.4(MYH6):c.5514G>T (p.Ser1838=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 470547	NM_002471.4(MYH6):c.5513C>T (p.Ser1838Leu)	MYH6 (S1838L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 512708	NM_002471.4(MYH6):c.5505C>T (p.Asn1835=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 848866	NM_002471.4(MYH6):c.5501G>A (p.Arg1834His)	MYH6 (R1834H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 196975	NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys)	MYH6 (E1831K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 1148187	NM_002471.4(MYH6):c.5490C>G (p.Ala1830=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 513603	NM_002471.4(MYH6):c.5490C>T (p.Ala1830=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +2 more	GLikely benign
Select item 1747833	NM_002471.4(MYH6):c.5489C>T (p.Ala1830Val)	MYH6 (A1830V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 239179	NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn)	MYH6 (G1826N)	Indel (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 929192	NM_002471.4(MYH6):c.5476G>C (p.Gly1826Arg)	MYH6 (G1826R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
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)	MYH6-related condition +8 more	GUncertain significance
Select item 2567203	NM_002471.4(MYH6):c.5454A>T (p.Glu1818Asp)	MYH6 (E1818D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1137933	NM_002471.4(MYH6):c.5445G>A (p.Gln1815=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 1747570	NM_002471.4(MYH6):c.5444A>C (p.Gln1815Pro)	MYH6 (Q1815P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452923	NM_002471.4(MYH6):c.5439G>T (p.Gln1813His)	MYH6 (Q1813H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 44536	NM_002471.4(MYH6):c.5439G>A (p.Gln1813=)	MYH6	Single nucleotide variant (synonymous variant)	MYH6-related condition +5 more	GBenign/Likely benign
Select item 1489652	NM_002471.4(MYH6):c.5435dup (p.Gln1813fs)	MYH6 (Q1813fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 521837	NM_002471.4(MYH6):c.5428G>A (p.Gly1810Ser)	MYH6 (G1810S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 807071	NM_002471.4(MYH6):c.5427A>C (p.Gly1809=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1747393	NM_002471.4(MYH6):c.5416G>A (p.Ala1806Thr)	MYH6 (A1806T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 312843	NM_002471.4(MYH6):c.5410C>A (p.Gln1804Lys)	MYH6 (Q1804K)	Single nucleotide variant (missense variant)	MYH6-related condition +5 more	GBenign/Likely benign
Select item 1285120	NM_002471.4(MYH6):c.5407G>C (p.Glu1803Gln)	MYH6 (E1803Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1747330	NM_002471.4(MYH6):c.5406C>T (p.Ala1802=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2567187	NM_002471.4(MYH6):c.5400C>G (p.Asp1800Glu)	MYH6 (D1800E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 498482	NM_002471.4(MYH6):c.5393G>A (p.Arg1798Gln)	MYH6 (R1798Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1496424	NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp)	MYH6 (R1798W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1055496	NM_002471.4(MYH6):c.5389C>G (p.His1797Asp)	MYH6 (H1797D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1747128	NM_002471.4(MYH6):c.5376T>C (p.Ile1792=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2567220	NM_002471.4(MYH6):c.5374A>G (p.Ile1792Val)	MYH6 (I1792V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 312845	NM_002471.4(MYH6):c.5367G>A (p.Glu1789=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 263508	NM_002471.4(MYH6):c.5348G>A (p.Arg1783His)	MYH6 (R1783H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 1004423	NM_002471.4(MYH6):c.5338C>T (p.His1780Tyr)	MYH6 (H1780Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1746902	NM_002471.4(MYH6):c.5336C>T (p.Ala1779Val)	MYH6 (A1779V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 222718	NM_002471.4(MYH6):c.5336C>A (p.Ala1779Asp)	MYH6 (A1779D)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1746899	NM_002471.4(MYH6):c.5335G>T (p.Ala1779Ser)	MYH6 (A1779S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1284399	NM_002471.4(MYH6):c.5334C>T (p.Ser1778=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1746884	NM_002471.4(MYH6):c.5331C>G (p.Thr1777=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1746730	NM_002471.4(MYH6):c.5307G>C (p.Glu1769Asp)	MYH6 (E1769D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1746709	NM_002471.4(MYH6):c.5301G>A (p.Met1767Ile)	MYH6 (M1767I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 520372	NM_002471.4(MYH6):c.5297T>C (p.Met1766Thr)	MYH6 (M1766T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 44533	NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)	MYH6 (A1765T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 698130	NM_002471.4(MYH6):c.5292C>T (p.Ala1764=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2605215	NM_002471.4(MYH6):c.5291C>T (p.Ala1764Val)	MYH6 (A1764V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1490164	NM_002471.4(MYH6):c.5285C>T (p.Thr1762Met)	MYH6 (T1762M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 807073	NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr)	MYH6 (A1760T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +7 more	GUncertain significance
Select item 432437	NM_002471.4(MYH6):c.5267A>G (p.Lys1756Arg)	MYH6 (K1756R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 1746455	NM_002471.4(MYH6):c.5260GAG[1] (p.Glu1755del)	MYH6 (E1755del)	Microsatellite (inframe_indel +1 more)	Cardiovascular phenotype	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 1428499	NM_002471.4(MYH6):c.5260G>C (p.Glu1754Gln)	MYH6 (E1754Q)	Single nucleotide variant (missense variant)	not provided +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

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