"Revvity Omics, Revvity"[submitter] AND "LOC126861898"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 918999	NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr)	LOC126861898, MYH7 (A893T)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +8 more	GUncertain significance
Select item 524996	NM_000257.4(MYH7):c.2594A>G (p.Lys865Arg)	LOC126861898, MYH7 (K865R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 36636	NM_000257.4(MYH7):c.2585C>T (p.Ala862Val)	LOC126861898, MYH7 (A862V)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 164324	NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	LOC126861898, MYH7 (R858C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +10 more	GPathogenic/Likely pathogenic
Select item 42913	NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)	LOC126861898, MYH7 (K847del)	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy	GLikely pathogenic 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 2433932	NM_000257.4(MYH7):c.2500T>C (p.Phe834Leu)	LOC126861898, MYH7 (F834L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 580010	NM_000257.4(MYH7):c.2467G>C (p.Gly823Arg)	LOC126861898, MYH7 (G823R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 42904	NM_000257.4(MYH7):c.2425G>T (p.Asp809Tyr)	LOC126861898, MYH7 (D809Y)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 2433933	NM_000257.4(MYH7):c.2424-3C>A	LOC126861898, MYH7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 42900	NM_000257.4(MYH7):c.2360G>A (p.Arg787His)	LOC126861898, MYH7 (R787H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely benign FDA Recognized database
Select item 161327	NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys)	LOC126861898, MYH7 (R787C)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 454355	NM_000257.4(MYH7):c.2348G>T (p.Arg783Leu)	LOC126861898, MYH7 (R783L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 180437	NM_000257.4(MYH7):c.2348G>A (p.Arg783His)	LOC126861898, MYH7 (R783H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GConflicting classifications of pathogenicity
Select item 181182	NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys)	LOC126861898, MYH7 (R783C)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity