"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36642	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	LOC126861897, MHRT +1 more (R1712Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 986882	NM_000257.4(MYH7):c.4475T>C (p.Leu1492Pro)	MHRT, MYH7 (L1492P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 14120	NM_000257.4(MYH7):c.2609G>A (p.Arg870His)	LOC126861898, MYH7 (R870H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 42910	NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu)	LOC126861898, MYH7 (P838L)	Single nucleotide variant (missense variant)	Restrictive cardiomyopathy	GPathogenic FDA Recognized database
Select item 1184902	NM_000257.4(MYH7):c.2480G>C (p.Trp827Ser)	LOC126861898, MYH7 (W827S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 14107	NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)	MYH7 (R719Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14105	NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg)	MYH7 (G716R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
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 14113	NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu)	MYH7 (S642L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 1275804	NM_000257.4(MYH7):c.1859T>C (p.Leu620Pro)	MYH7 (L620P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 181349	NM_000257.4(MYH7):c.1477A>G (p.Met493Val)	MYH7 (M493V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic