"Blueprint Genetics"[submitter] AND "LOC126861898"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 164319	NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu)	LOC126861898, MYH7 (A893E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 222724	NM_000257.4(MYH7):c.2613G>T (p.Lys871Asn)	LOC126861898, MYH7 (K871N)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
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 177667	NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	LOC126861898, MYH7 (R869H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 42914	NM_000257.4(MYH7):c.2546T>C (p.Met849Thr)	LOC126861898, MYH7 (M849T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely 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 636880	NM_000257.4(MYH7):c.2534G>A (p.Arg845Lys)	LOC126861898, MYH7 (R845K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 636527	NM_000257.4(MYH7):c.2470G>A (p.Val824Ile)	LOC126861898, MYH7 (V824I)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 42901	NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	LOC126861898, MYH7 (A797T)	Single nucleotide variant (missense variant)	MYH7-related condition +19 more	GPathogenic/Likely pathogenic
Select item 180437	NM_000257.4(MYH7):c.2348G>A (p.Arg783His)	LOC126861898, MYH7 (R783H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 42895	NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro)	LOC126861898, MYH7 (R783P)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GLikely pathogenic
Select item 188615	NM_000257.4(MYH7):c.2334C>A (p.Asp778Glu)	LOC126861898, MYH7 (D778E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 636474	NM_000257.4(MYH7):c.2293T>G (p.Phe765Val)	LOC126861898, MYH7 (F765V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance