"Athena Diagnostics Inc"[submitter] AND "DNAJB6"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 585789	NM_058246.4(DNAJB6):c.-8C>G	DNAJB6	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 804750	NM_058246.4(DNAJB6):c.203A>G (p.Tyr68Cys)	DNAJB6 (Y68C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 281272	NM_058246.4(DNAJB6):c.279C>T (p.Phe93=)	DNAJB6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 31529	NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)	DNAJB6 (F93L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 262306	NM_058246.4(DNAJB6):c.429G>C (p.Ala143=)	DNAJB6	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 447270	NM_058246.4(DNAJB6):c.479-5T>C	DNAJB6	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 995079	NM_058246.4(DNAJB6):c.777G>A (p.Pro259=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GLikely benign
Select item 655798	NM_058246.4(DNAJB6):c.791G>A (p.Arg264Gln)	DNAJB6 (R149Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 286460	NM_058246.4(DNAJB6):c.860G>A (p.Arg287Gln)	DNAJB6 (R287Q +1 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GBenign/Likely benign
Select item 911503	NM_058246.4(DNAJB6):c.885C>G (p.Leu295=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GConflicting classifications of pathogenicity
Select item 226613	NM_058246.4(DNAJB6):c.899-6C>T	DNAJB6	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 281947	NM_058246.4(DNAJB6):c.961T>C (p.Ser321Pro)	DNAJB6 (S321P +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +2 more	GBenign/Likely benign