"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522338	NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)	DST (N4190S +7 more)	Single nucleotide variant (missense variant)	DST-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 518376	NM_001374736.1(DST):c.16308G>A (p.Met5436Ile)	DST (M2813I +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more	GBenign
Select item 518377	NM_001374736.1(DST):c.16045A>G (p.Thr5349Ala)	DST (T2726A +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GBenign
Select item 518378	NM_001374736.1(DST):c.14068+5G>A	DST	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more	GBenign
Select item 518379	NM_001374736.1(DST):c.11792A>G (p.Gln3931Arg)	DST (Q1308R +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more	GBenign
Select item 357558	NM_001723.7(DST):c.6031G>C (p.Val2011Leu)	DST (V2011L)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GBenign
Select item 357579	NM_001723.7(DST):c.4074G>A (p.Lys1358=)	DST	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 357616	NM_001374736.1(DST):c.2350C>G (p.Pro784Ala)	DST (P247A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity