"Eurofins Ntd Llc (ga)"[submitter] AND "MYH8"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 597533	NM_002472.3(MYH8):c.5789T>G (p.Val1930Gly)	MYH8, MYHAS (V1930G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 397641	NM_002472.3(MYH8):c.5623C>T (p.Gln1875Ter)	MYH8, MYHAS (Q1875*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 397649	NM_002472.3(MYH8):c.5293-1G>A	LOC126862493, MYH8 +1 more	Single nucleotide variant (splice acceptor variant)	not provided	GConflicting classifications of pathogenicity
Select item 397648	NM_002472.3(MYH8):c.4846A>T (p.Arg1616Ter)	MYHAS, MYH8 (R1616*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 397647	NM_002472.3(MYH8):c.4470del (p.Tyr1491fs)	MYH8, MYHAS (Y1491fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 397646	NM_002472.3(MYH8):c.3320del (p.Leu1107fs)	LOC126862494, MYH8 +1 more (L1107fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 211562	NM_002472.3(MYH8):c.3254+1G>T	LOC126862494, MYH8 +1 more	Single nucleotide variant (splice donor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 397645	NM_002472.3(MYH8):c.2746dup (p.Ile916fs)	MYH8, MYHAS (I916fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 597534	NM_002472.3(MYH8):c.2557G>A (p.Ala853Thr)	MYH8, MYHAS (A853T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 397650	NM_002472.3(MYH8):c.2128A>T (p.Lys710Ter)	MYH8, MYHAS (K710*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 397651	NM_002472.3(MYH8):c.1966-1G>T	MYH8, MYHAS	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 397643	NM_002472.3(MYH8):c.1966-2A>G	MYH8, MYHAS	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 397642	NM_002472.3(MYH8):c.1475del (p.Phe492fs)	MYH8, MYHAS (F492fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 397644	NM_002472.3(MYH8):c.1408del (p.Ile470fs)	MYH8, MYHAS (I470fs)	Deletion (frameshift variant)	Hecht syndrome +1 more	GConflicting classifications of pathogenicity
Select item 129669	NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter)	MYH8, MYHAS (C403*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity