"Ambry Genetics"[submitter] AND "DNAJB6"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 959575	NM_058246.4(DNAJB6):c.343T>C (p.Phe115Leu)	DNAJB6 (F115L)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GUncertain significance
Select item 2322133	NM_058246.4(DNAJB6):c.349G>T (p.Asp117Tyr)	DNAJB6 (D117Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 653257	NM_058246.4(DNAJB6):c.404G>A (p.Arg135Gln)	DNAJB6 (R135Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GConflicting classifications of pathogenicity
Select item 2472876	NM_058246.4(DNAJB6):c.419T>G (p.Phe140Cys)	DNAJB6 (F140C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 286265	NM_058246.4(DNAJB6):c.602G>A (p.Arg201Lys)	DNAJB6 (R201K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2074100	NM_058246.4(DNAJB6):c.685A>G (p.Ile229Val)	DNAJB6 (I229V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GUncertain significance
Select item 1041838	NM_058246.4(DNAJB6):c.702C>G (p.Asp234Glu)	DNAJB6 (D234E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2537048	NM_058246.4(DNAJB6):c.705C>G (p.Asp235Glu)	DNAJB6 (D120E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 379481	NM_058246.4(DNAJB6):c.815C>T (p.Ala272Val)	DNAJB6 (A272V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +2 more	GConflicting classifications of pathogenicity
Select item 2248572	NM_058246.4(DNAJB6):c.868G>A (p.Gly290Arg)	DNAJB6 (G175R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GUncertain significance
Select item 538667	NM_058246.4(DNAJB6):c.938G>A (p.Arg313Lys)	DNAJB6 (R313K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GConflicting classifications of pathogenicity
Select item 193753	NM_058246.4(DNAJB6):c.947C>T (p.Ser316Leu)	DNAJB6 (S316L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 594710	NM_058246.4(DNAJB6):c.974A>C (p.Asn325Thr)	DNAJB6 (N325T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity