ClinVar for OMIM (Select 160760) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443871	NM_007146.3(VEZF1):c.490A>T (p.Lys164Ter)	VEZF1 (K164* +1 more)	Single nucleotide variant (nonsense)	Cardiomyopathy, dilated, 100	GPathogenic
Select item 162028	NM_000257.4(MYH7):c.1802dup (p.Asn602fs)	MYH7 (N602fs)	Duplication (frameshift variant)	Familial cardiomyopathy	GUncertain significance
Select item 162027	NM_000257.4(MYH7):c.2187C>A (p.Ala729=)	MYH7	Single nucleotide variant (synonymous variant)	Familial cardiomyopathy	GUncertain significance
Select item 132938	NM_000257.4(MYH7):c.503-8C>G	MYH7	Single nucleotide variant (intron variant)	Familial cardiomyopathy	GUncertain significance
Select item 132937	NM_000257.4(MYH7):c.503-4A>G	MYH7	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 132936	NM_000257.4(MYH7):c.639+28T>A	MYH7	Single nucleotide variant (intron variant)	Familial cardiomyopathy	GUncertain significance
Select item 132935	NM_000257.4(MYH7):c.639+31C>A	MYH7	Single nucleotide variant (intron variant)	Familial cardiomyopathy	GUncertain significance
Select item 132934	NM_000257.4(MYH7):c.640-1G>A	MYH7	Single nucleotide variant (splice acceptor variant)	Familial cardiomyopathy	GLikely pathogenic
Select item 132933	NM_000257.4(MYH7):c.1073A>T (p.His358Leu)	MYH7 (H358L)	Single nucleotide variant (missense variant)	Familial cardiomyopathy	GPathogenic
Select item 132932	NM_000257.4(MYH7):c.1084A>T (p.Met362Leu)	MYH7 (M362L)	Single nucleotide variant (missense variant)	Familial cardiomyopathy	GLikely benign
Select item 132931	NM_000257.4(MYH7):c.1101G>T (p.Lys367Asn)	MYH7 (K367N)	Single nucleotide variant (missense variant)	Familial cardiomyopathy	GLikely pathogenic
Select item 132930	NM_000257.4(MYH7):c.1151C>A (p.Ser384Tyr)	MYH7 (S384Y)	Single nucleotide variant (missense variant)	Familial cardiomyopathy	GPathogenic
Select item 132929	NM_000257.4(MYH7):c.1245G>A (p.Gln415=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 132928	NM_000257.4(MYH7):c.1267G>A (p.Ala423Thr)	MYH7 (A423T)	Single nucleotide variant (missense variant)	Familial cardiomyopathy	GLikely pathogenic
Select item 132927	NM_000257.4(MYH7):c.1291G>A (p.Val431Met)	MYH7 (V431M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 132926	NM_000257.4(MYH7):c.1530C>A (p.Phe510Leu)	MYH7 (F510L)	Single nucleotide variant (missense variant)	Familial cardiomyopathy	GPathogenic
Select item 132925	NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	MYH7 (E525K)	Single nucleotide variant (missense variant)	Myopathy, myosin storage, autosomal recessive +6 more	GPathogenic/Likely pathogenic
Select item 132924	NM_000257.4(MYH7):c.1788G>A (p.Lys596=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 132923	NM_000257.4(MYH7):c.1830G>A (p.Gln610=)	MYH7	Single nucleotide variant (synonymous variant)	Familial cardiomyopathy	GUncertain significance
Select item 132922	NM_000257.4(MYH7):c.1889-27T>A	MYH7	Single nucleotide variant (intron variant)	Familial cardiomyopathy	GUncertain significance
Select item 132921	NM_000257.4(MYH7):c.1952A>G (p.His651Arg)	MYH7 (H651R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 132920	NM_000257.4(MYH7):c.1956+2T>G	MYH7	Single nucleotide variant (splice donor variant)	Familial cardiomyopathy	GPathogenic
Select item 132919	NM_000257.4(MYH7):c.1956+112G>A	MYH7	Single nucleotide variant (intron variant)	Familial cardiomyopathy	GUncertain significance
Select item 132918	NM_000257.4(MYH7):c.1956+114G>A	MYH7	Single nucleotide variant (intron variant)	Familial cardiomyopathy	GUncertain significance
Select item 132917	NM_000257.4(MYH7):c.2028del (p.Asn676fs)	MYH7 (N676fs)	Deletion (frameshift variant)	Familial cardiomyopathy	GPathogenic
Select item 132916	NM_000257.4(MYH7):c.2051T>G (p.Met684Arg)	MYH7 (M684R)	Single nucleotide variant (missense variant)	Familial cardiomyopathy	GPathogenic
Select item 132915	NM_000257.4(MYH7):c.2163-18G>A	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 132914	NM_000257.4(MYH7):c.2163-1G>A	MYH7	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1S	GPathogenic
Select item 132913	NM_000257.4(MYH7):c.2174T>C (p.Leu725Pro)	MYH7 (L725P)	Single nucleotide variant (missense variant)	Familial cardiomyopathy	GLikely pathogenic
Select item 132912	NM_000257.4(MYH7):c.2181A>G (p.Pro727=)	MYH7	Single nucleotide variant (synonymous variant)	Familial cardiomyopathy	GUncertain significance
Select item 132911	NM_000257.4(MYH7):c.2366del (p.Gln789fs)	LOC126861898, MYH7 (Q789fs)	Deletion (frameshift variant)	Familial cardiomyopathy	GPathogenic
Select item 132910	NM_000257.4(MYH7):c.2469G>T (p.Gly823=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Familial cardiomyopathy	GUncertain significance
Select item 132909	NM_000257.4(MYH7):c.2496C>T (p.Leu832=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 132908	NM_000257.4(MYH7):c.2686G>A (p.Asp896Asn)	MYH7 (D896N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 132907	NM_000257.4(MYH7):c.3245+149C>G	MYH7	Single nucleotide variant (intron variant)	Familial cardiomyopathy	GUncertain significance
Select item 42912	NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn)	LOC126861898, MYH7 (S842N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 42886	NM_000257.4(MYH7):c.2168G>A (p.Arg723His)	MYH7 (R723H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 42619	NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	MYBPC3 (W792fs)	Duplication	Cardiovascular phenotype +6 more	GPathogenic
Select item 37039	NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)	MYBPC3 (R943*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic
Select item 14146	MYH6, MYH6/MYH7 HYBRID	MYH6	Variation	Myosin, cardiac, heavy chain variant	GPathogenic
Select item 12456	NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)	TPM1 (D175N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GPathogenic
Select item 8776	NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)	CSRP3 (W4R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 8620	NM_000256.3(MYBPC3):c.3628-34_3628-10del	MYBPC3	Deletion (intron variant)	Cardiomyopathy, familial hypertrophic, 4, susceptibility to	Grisk factor
Select item 4243	NM_033118.4(MYLK2):c.260C>T (p.Ala87Val)	MYLK2 (A87V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

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Links from OMIM

Items: 44