"Genetics and Genomics Program, Sidra Medicine"[submitter] AND "MYH7"[ - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 960135	NM_000257.4(MYH7):c.5769del (p.Ser1924fs)	MYH7 (S1924fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 978750	NM_000257.4(MYH7):c.5413C>A (p.Leu1805Ile)	MYH7 (L1805I)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 177629	NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)	MYH7 (S1776G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 177846	NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)	LOC126861897, MYH7 (A1763T)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 181393	NM_000257.4(MYH7):c.5030G>A (p.Arg1677His)	LOC126861897, MHRT +1 more (R1677H)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy +10 more	GUncertain significance
Select item 43049	NM_000257.4(MYH7):c.4985G>A (p.Arg1662His)	LOC126861897, MHRT +1 more (R1662H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 567807	NM_000257.4(MYH7):c.4822C>T (p.Arg1608Cys)	LOC126861897, MHRT +1 more (R1608C)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 978739	NM_000257.4(MYH7):c.4808C>T (p.Ala1603Val)	LOC126861897, MHRT +1 more (A1603V)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 43012	NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	MHRT, MYH7 (K1459N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 453109	NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile)	MHRT, MYH7 (V1432I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +10 more	GUncertain significance
Select item 235030	NM_000257.4(MYH7):c.2508C>G (p.Ile836Met)	LOC126861898, MYH7 (I836M)	Single nucleotide variant (missense variant)	Myopathy, myosin storage, autosomal recessive +9 more	GUncertain significance
Select item 181171	NM_000257.4(MYH7):c.2051T>C (p.Met684Thr)	MYH7 (M684T)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 42875	NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	MYH7 (R663H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14119	NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)	MYH7 (E483K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic