"GeneReviews"[submitter] AND "DKC1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 38944	NM_001363.5(DKC1):c.-142C>G	DKC1, LOC130068886	Single nucleotide variant	Dyskeratosis congenita, X-linked +3 more	GConflicting classifications of pathogenicity
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 38949	NM_001363.5(DKC1):c.29C>T (p.Pro10Leu)	DKC1 (P10L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38954	NM_001363.5(DKC1):c.91C>G (p.Gln31Glu)	DKC1 (Q31E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 11594	NM_001363.5(DKC1):c.91C>A (p.Gln31Lys)	DKC1 (Q31K)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
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 11583	NM_001363.5(DKC1):c.109_111del (p.Leu37del)	DKC1 (L37del)	Deletion (inframe_deletion +1 more)	Dyskeratosis congenita	GLikely pathogenic
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 38943	NM_001363.5(DKC1):c.127A>G (p.Lys43Glu)	DKC1 (K43E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 11591	NM_001363.5(DKC1):c.146C>T (p.Thr49Met)	DKC1 (T49M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
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 (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 38947	NM_001363.5(DKC1):c.200C>T (p.Thr67Ile)	DKC1 (T67I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38948	NM_001363.5(DKC1):c.204C>A (p.His68Gln)	DKC1 (H68Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 11592	NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)	DKC1 (S121G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 38950	NM_001363.5(DKC1):c.472C>T (p.Arg158Trp)	DKC1 (R158W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 38952	NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)	DKC1 (S280R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GBenign/Likely benign
Select item 38953	NM_001363.5(DKC1):c.911G>A (p.Ser304Asn)	DKC1 (S304N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38955	NM_001363.5(DKC1):c.941A>G (p.Lys314Arg)	DKC1 (K314R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
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 38956	NM_001363.5(DKC1):c.949C>G (p.Leu317Val)	DKC1 (L317V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
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 38933	NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn)	DKC1 (D359N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38934	NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser)	DKC1 (P384S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38935	NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu)	DKC1 (P384L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38936	NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr)	DKC1 (A386T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 38938	NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro)	DKC1 (L398P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
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 38941	NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)	DKC1 (T408I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
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: 38