Related gene-specific medical variations for Gene (Select 1736) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062073	NM_001363.5(DKC1):c.691G>A (p.Val231Met)	DKC1 (V231M)	Single nucleotide variant (missense variant +1 more)	Hoyeraal-Hreidarsson syndrome	GUncertain significance
Select item 2674846	NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)	DKC1 (R322*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita, X-linked	GLikely pathogenic
Select item 1702762	NM_001363.5(DKC1):c.16+402G>A	DKC1, LOC130068887	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1336753	NM_001363.5(DKC1):c.-59G>T	DKC1, LOC130068886	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1336057	NM_001363.5(DKC1):c.-70C>G	DKC1, LOC130068886	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 930355	NM_001363.5(DKC1):c.133G>A (p.Ala45Thr)	DKC1 (A45T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GLikely pathogenic
Select item 434940	NM_001363.5(DKC1):c.-74G>A	DKC1, LOC130068886	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 235576	NM_001363.5(DKC1):c.1345C>G (p.Arg449Gly)	DKC1 (R449G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 100833	NM_001363.5(DKC1):c.1147G>A (p.Gly383Ser)	DKC1 (G383S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Links from Gene

Items: 29