"UniProtKB/Swiss-Prot"[submitter] AND "DKC1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 38951	NM_001363.5(DKC1):c.5C>T (p.Ala2Val)	DKC1 (A2V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 11582	NM_001363.5(DKC1):c.106T>G (p.Phe36Val)	DKC1 (F36V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 11593	NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)	DKC1 (I38T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 38937	NM_001363.5(DKC1):c.115A>G (p.Lys39Glu)	DKC1 (K39E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 11584	NM_001363.5(DKC1):c.119C>G (p.Pro40Arg)	DKC1 (P40R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 38940	NM_001363.5(DKC1):c.121G>A (p.Glu41Lys)	DKC1 (E41K)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 11591	NM_001363.5(DKC1):c.146C>T (p.Thr49Met)	DKC1 (T49M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GPathogenic
Select item 68416	NM_001363.5(DKC1):c.166_167delinsTC (p.Leu56Ser)	DKC1 (L56S)	Indel (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38945	NM_001363.5(DKC1):c.194G>C (p.Arg65Thr)	DKC1 (R65T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38946	NM_001363.5(DKC1):c.196A>G (p.Thr66Ala)	DKC1 (T66A)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +1 more	GPathogenic/Likely pathogenic
Select item 68417	NM_001363.5(DKC1):c.214C>T (p.Leu72Phe)	DKC1 (L72F)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 11585	NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr)	DKC1 (L72Y)	Indel (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 11592	NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)	DKC1 (S121G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 38957	NM_001363.5(DKC1):c.949C>T (p.Leu317Phe)	DKC1 (L317F)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 38958	NM_001363.5(DKC1):c.961C>G (p.Leu321Val)	DKC1 (L321V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38959	NM_001363.5(DKC1):c.965G>A (p.Arg322Gln)	DKC1 (R322Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 38931	NM_001363.5(DKC1):c.1049T>C (p.Met350Thr)	DKC1 (M350T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38932	NM_001363.5(DKC1):c.1050G>A (p.Met350Ile)	DKC1 (M350I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 11587	NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)	DKC1 (A353V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 38939	NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg)	DKC1 (G402R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 11586	NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu)	DKC1 (G402E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 38942	NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu)	DKC1 (P409L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GLikely pathogenic

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Items: 22