"Revvity Omics, Revvity"[submitter] AND "DNAJB6"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1003621	NM_058246.4(DNAJB6):c.114del (p.Asn38fs)	DNAJB6 (N38fs)	Deletion (frameshift variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 1432950	NM_058246.4(DNAJB6):c.122A>C (p.Glu41Ala)	DNAJB6 (E41A)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 651360	NM_058246.4(DNAJB6):c.133A>G (p.Lys45Glu)	DNAJB6 (K45E)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 500303	NM_058246.4(DNAJB6):c.149C>T (p.Ala50Val)	DNAJB6 (A50V)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GPathogenic/Likely pathogenic
Select item 2440937	NM_058246.4(DNAJB6):c.172G>C (p.Asp58His)	DNAJB6 (D58H)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 282541	NM_058246.4(DNAJB6):c.230G>T (p.Gly77Val)	DNAJB6 (G77V)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GUncertain significance
Select item 2440929	NM_058246.4(DNAJB6):c.236-3C>G	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GConflicting classifications of pathogenicity
Select item 2440931	NM_058246.4(DNAJB6):c.236-1G>C	DNAJB6	Single nucleotide variant (splice acceptor variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 427160	NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu)	DNAJB6 (F89L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 31531	NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile)	DNAJB6 (F89I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1322758	NM_058246.4(DNAJB6):c.271T>C (p.Phe91Leu)	DNAJB6 (F91L)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GPathogenic
Select item 2440938	NM_058246.4(DNAJB6):c.274A>C (p.Thr92Pro)	DNAJB6 (T92P)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 30904	NM_058246.4(DNAJB6):c.277T>C (p.Phe93Leu)	DNAJB6 (F93L)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GPathogenic
Select item 31529	NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)	DNAJB6 (F93L)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GPathogenic
Select item 662068	NM_058246.4(DNAJB6):c.304G>A (p.Glu102Lys)	DNAJB6 (E102K)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2440928	NM_058246.4(DNAJB6):c.376C>T (p.Arg126Ter)	DNAJB6 (R126*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	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 286043	NM_058246.4(DNAJB6):c.410C>T (p.Thr137Met)	DNAJB6 (T137M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440930	NM_058246.4(DNAJB6):c.425C>T (p.Ser142Phe)	DNAJB6 (S142F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2440935	NM_058246.4(DNAJB6):c.488C>T (p.Ser163Leu)	DNAJB6 (S163L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 1810100	NM_058246.4(DNAJB6):c.499C>G (p.Leu167Val)	DNAJB6 (L167V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 638968	NM_058246.4(DNAJB6):c.512G>T (p.Gly171Val)	DNAJB6 (G171V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 870632	NM_058246.4(DNAJB6):c.577A>G (p.Thr193Ala)	DNAJB6 (T193A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 635043	NM_058246.4(DNAJB6):c.608T>C (p.Ile203Thr)	DNAJB6 (I203T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 857062	NM_058246.4(DNAJB6):c.676T>G (p.Ser226Ala)	DNAJB6 (S226A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	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 594118	NM_058246.4(DNAJB6):c.709G>C (p.Ala237Pro)	DNAJB6 (A237P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 288191	NM_058246.4(DNAJB6):c.721G>A (p.Glu241Lys)	DNAJB6 (E241K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GUncertain significance
Select item 2440933	NM_058246.4(DNAJB6):c.725G>T (p.Arg242Leu)	DNAJB6 (R127L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 1408181	NM_058246.4(DNAJB6):c.731G>A (p.Arg244Gln)	DNAJB6 (R244Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2688961	NM_058246.4(DNAJB6):c.761C>G (p.Pro254Arg)	DNAJB6 (P139R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2440932	NM_058246.4(DNAJB6):c.779C>T (p.Pro260Leu)	DNAJB6 (P145L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 655798	NM_058246.4(DNAJB6):c.791G>A (p.Arg264Gln)	DNAJB6 (R149Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2440939	NM_058246.4(DNAJB6):c.838G>A (p.Glu280Lys)	DNAJB6 (E165K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 911502	NM_058246.4(DNAJB6):c.844G>A (p.Glu282Lys)	DNAJB6 (E167K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 290523	NM_058246.4(DNAJB6):c.857C>T (p.Pro286Leu)	DNAJB6 (P286L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440934	NM_058246.4(DNAJB6):c.866C>G (p.Pro289Arg)	DNAJB6 (P174R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GUncertain significance
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) +2 more	GUncertain significance
Select item 290451	NM_058246.4(DNAJB6):c.868G>C (p.Gly290Arg)	DNAJB6 (G290R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1470740	NM_058246.4(DNAJB6):c.869G>A (p.Gly290Glu)	DNAJB6 (G175E +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 1523704	NM_058246.4(DNAJB6):c.932A>G (p.Lys311Arg)	DNAJB6 (K196R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 282540	NM_058246.4(DNAJB6):c.947C>G (p.Ser316Trp)	DNAJB6 (S316W +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GUncertain significance
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)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 44