MYH7[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	ABHD4, ACIN1 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	LOC130055505, LOC130055506 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	LOC129390619, LOC129390620 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3284 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC112272545, LOC112272546 +3279 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	OR11H6, OR11H7 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055260, LOC130055261 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	TRAJ3, TRAJ30 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 14146	NC_000014.9:g.23390032_23419824dup	LOC114827851, LOC126861897 +4 more	Duplication		GPathogenic
Select item 583981	NC_000014.8:g.(?_23859246)_(23889463_?)dup	LOC114827851, LOC126861897 +4 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 149241	GRCh38/hg38 14q11.2(chr14:23390903-23414236)x1	LOC114827851, MYH6 +1 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 470501	NC_000014.8:g.(?_23861751)_(23889463_?)dup	LOC114827851, LOC126861897 +4 more	Duplication	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 153761	GRCh38/hg38 14q11.2(chr14:23395406-23414169)x3	LOC114827851, MYH6 +1 more	Copy number gain	See cases	GUncertain significance
Select item 312886	NM_002471.4(MYH6):c.-64G>C	LOC114827851, MYH6 +1 more	Single nucleotide variant (5 prime UTR variant)	Myosin storage myopathy +8 more	GBenign/Likely benign
Select item 369066	NC_000014.9:g.23408281C>T	LOC114827851, MYH7	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +5 more	GLikely benign
Select item 1242699	NC_000014.9:g.23412700G>A	MYH7	Single nucleotide variant	not provided	GBenign
Select item 1252265	NC_000014.9:g.23412711G>T	MYH7	Single nucleotide variant	not provided	GBenign
Select item 3076072	NC_000014.9:g.(?_23412738)_(23420234_?)del	LOC126861897, MHRT +2 more	Deletion	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 312887	NM_000257.4(MYH7):c.*113G>A	MYH6, MYH7	Single nucleotide variant (3 prime UTR variant)	Myosin storage myopathy +8 more	GBenign/Likely benign
Select item 312888	NM_000257.4(MYH7):c.*105T>C	MYH7	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 882442	NM_000257.4(MYH7):c.*81G>A	MYH7	Single nucleotide variant (3 prime UTR variant)	Myosin storage myopathy +3 more	GUncertain significance
Select item 584222	NC_000014.9:g.(?_23412834)_(23412891_?)del	MYH7	Deletion	Hypertrophic cardiomyopathy	GUncertain significance
Select item 188649	NM_000257.4(MYH7):c.*20G>A	MYH7	Single nucleotide variant (3 prime UTR variant)	Myosin storage myopathy +8 more	GBenign/Likely benign
Select item 3071962	NM_000257.4(MYH7):c.*6C>T	MYH7	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 1229658	NM_000257.4(MYH7):c.*4T>C	MYH7	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 623835	NM_000257.4(MYH7):c.*1C>T	MYH7	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1749820	NM_000257.4(MYH7):c.5808G>A (p.Ter1936=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 42097	NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp)	MYH7	Single nucleotide variant (stop lost)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 922451	NM_000257.4(MYH7):c.5802G>A (p.Glu1934=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3628684	NM_000257.4(MYH7):c.5801A>G (p.Glu1934Gly)	MYH7 (E1934G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 181292	NM_000257.4(MYH7):c.5800G>A (p.Glu1934Lys)	MYH7 (E1934K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1477804	NM_000257.4(MYH7):c.5798A>T (p.Asn1933Ile)	MYH7 (N1933I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1352285	NM_000257.4(MYH7):c.5798A>G (p.Asn1933Ser)	MYH7 (N1933S)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 2735462	NM_000257.4(MYH7):c.5797A>C (p.Asn1933His)	MYH7 (N1933H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 884147	NM_000257.4(MYH7):c.5793C>T (p.Gly1931=)	MYH7	Single nucleotide variant (synonymous variant)	Myosin storage myopathy +4 more	GConflicting classifications of pathogenicity
Select item 1749672	NM_000257.4(MYH7):c.5792delG	MYH7	Deletion (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 968602	NM_000257.4(MYH7):c.5791-2_5791-1delinsT	MYH7	Indel (splice acceptor variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3002048	NM_000257.4(MYH7):c.5791-2A>G	MYH7	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1749667	NM_000257.4(MYH7):c.5791-2A>T	MYH7	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3048786	NM_000257.4(MYH7):c.5791-5A>G	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2990384	NM_000257.4(MYH7):c.5791-10_5791-6dup	MYH7	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3615036	NM_000257.4(MYH7):c.5791-6C>T	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1504839	NM_000257.4(MYH7):c.5791-6C>G	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3616883	NM_000257.4(MYH7):c.5791-12T>G	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2839959	NM_000257.4(MYH7):c.5791-19C>T	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1263654	NM_000257.4(MYH7):c.5791-64A>G	MYH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671943	NM_000257.4(MYH7):c.5791-106A>C	MYH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674655	NM_000257.4(MYH7):c.5791-162A>C	MYH7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667671	NM_000257.4(MYH7):c.5791-222G>A	MYH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192164	NM_000257.4(MYH7):c.5790+174dup	MYH7	Duplication (intron variant)	not provided	GLikely benign
Select item 1271877	NM_000257.4(MYH7):c.5790+191_5790+192del	MYH7	Deletion (intron variant)	not provided	GBenign
Select item 1229083	NM_000257.4(MYH7):c.5790+190_5790+192del	MYH7	Deletion (intron variant)	not provided	GBenign
Select item 1189496	NM_000257.4(MYH7):c.5790+130G>A	MYH7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218457	NM_000257.4(MYH7):c.5790+118C>T	MYH7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671942	NM_000257.4(MYH7):c.5790+113T>C	MYH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2852614	NM_000257.4(MYH7):c.5790+16G>A	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1997089	NM_000257.4(MYH7):c.5790+15T>C	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 379296	NM_000257.4(MYH7):c.5790+15T>G	MYH7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 3676348	NM_000257.4(MYH7):c.5790+14T>C	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 495782	NM_000257.4(MYH7):c.5790+14T>A	MYH7	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1659085	NM_000257.4(MYH7):c.5790+11C>G	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 512211	NM_000257.4(MYH7):c.5790+10T>C	MYH7	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 454393	NM_000257.4(MYH7):c.5790+9C>G	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 384553	NM_000257.4(MYH7):c.5790+9C>T	MYH7	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1586678	NM_000257.4(MYH7):c.5790+7C>A	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1749660	NM_000257.4(MYH7):c.5790+5G>T	MYH7	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2773888	NM_000257.4(MYH7):c.5790+4G>T	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2702266	NM_000257.4(MYH7):c.5790+2del	MYH7	Deletion (splice donor variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 2127118	NM_000257.4(MYH7):c.5789A>C (p.Lys1930Thr)	MYH7 (K1930T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1749628	NM_000257.4(MYH7):c.5787G>T (p.Thr1929=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 43091	NM_000257.4(MYH7):c.5787G>A (p.Thr1929=)	MYH7	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1S +8 more	GConflicting classifications of pathogenicity
Select item 181397	NM_000257.4(MYH7):c.5786C>T (p.Thr1929Met)	MYH7 (T1929M)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 3070076	NM_000257.4(MYH7):c.5782G>A (p.Gly1928Ser)	MYH7 (G1928S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1149948	NM_000257.4(MYH7):c.5781T>C (p.Ile1927=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 487639	NM_000257.4(MYH7):c.5779A>T (p.Ile1927Phe)	MYH7 (I1927F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 407171	NM_000257.4(MYH7):c.5774G>A (p.Arg1925His)	MYH7 (R1925H)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GUncertain significance
Select item 1174884	NM_000257.4(MYH7):c.5773C>G (p.Arg1925Gly)	MYH7 (R1925G)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1037017	NM_000257.4(MYH7):c.5773C>T (p.Arg1925Cys)	MYH7 (R1925C)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 3023101	NM_000257.4(MYH7):c.5771G>C (p.Ser1924Thr)	MYH7 (S1924T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 188648	NM_000257.4(MYH7):c.5771G>T (p.Ser1924Ile)	MYH7 (S1924I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +1 more	GUncertain significance
Select item 960135	NM_000257.4(MYH7):c.5769del (p.Ser1924fs)	MYH7 (S1924fs)	Deletion (frameshift variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 691823	NM_000257.4(MYH7):c.5767A>G (p.Lys1923Glu)	MYH7 (K1923E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 941512	NM_000257.4(MYH7):c.5765C>T (p.Ala1922Val)	MYH7 (A1922V)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 3635987	NM_000257.4(MYH7):c.5764G>A (p.Ala1922Thr)	MYH7 (A1922T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1114480	NM_000257.4(MYH7):c.5763G>A (p.Arg1921=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 228917	NM_000257.4(MYH7):c.5762G>C (p.Arg1921Pro)	MYH7 (R1921P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 43090	NM_000257.4(MYH7):c.5762G>A (p.Arg1921Gln)	MYH7 (R1921Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 508736	NM_000257.4(MYH7):c.5761C>A (p.Arg1921=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 407181	NM_000257.4(MYH7):c.5761C>G (p.Arg1921Gly)	MYH7 (R1921G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 181291	NM_000257.4(MYH7):c.5761C>T (p.Arg1921Trp)	MYH7 (R1921W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1650837	NM_000257.4(MYH7):c.5760G>T (p.Leu1920=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 518640	NM_000257.4(MYH7):c.5757G>C (p.Lys1919Asn)	MYH7 (K1919N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 987744	NM_000257.4(MYH7):c.5751CAA[1] (p.Asn1918del)	MYH7 (N1918del)	Microsatellite (inframe_deletion)	See cases	GUncertain significance
Select item 1175039	NM_000257.4(MYH7):c.5754C>G (p.Asn1918Lys)	MYH7 (N1918K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66082	NM_000257.4(MYH7):c.5754C>R (p.Asn1918Lys)	MYH7 (N1918K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 5	GPathogenic
Select item 43089	NM_000257.4(MYH7):c.5749G>T (p.Val1917Phe)	MYH7 (V1917F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 3230921	NM_000257.4(MYH7):c.5748G>C (p.Gln1916His)	MYH7 (Q1916H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1331293	NM_000257.4(MYH7):c.5743_5748del (p.Ser1915_Gln1916del)	MYH7	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3633317	NM_000257.4(MYH7):c.5747A>G (p.Gln1916Arg)	MYH7 (Q1916R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance

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