"Ambry Genetics"[submitter] AND "DKC1"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 38944	NM_001363.4(DKC1):c.-142C>G	DKC1, LOC130068886	Single nucleotide variant	DKC1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1423080	NM_001363.5(DKC1):c.55C>T (p.Arg19Trp)	DKC1 (R19W)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GConflicting classifications of pathogenicity
Select item 2069269	NM_001363.5(DKC1):c.62C>T (p.Ser21Leu)	DKC1 (S21L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1779774	NM_001363.5(DKC1):c.176T>C (p.Phe59Ser)	DKC1 (F59S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1782258	NM_001363.5(DKC1):c.189T>G (p.Asn63Lys)	DKC1 (N63K)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 940410	NM_001363.5(DKC1):c.191T>G (p.Val64Gly)	DKC1 (V64G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GConflicting classifications of pathogenicity
Select item 3082634	NM_001363.5(DKC1):c.257A>G (p.Tyr86Cys)	DKC1 (Y86C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 420625	NM_001363.5(DKC1):c.259A>G (p.Ile87Val)	DKC1 (I87V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1731627	NM_001363.5(DKC1):c.345G>A (p.Val115=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1738966	NM_001363.5(DKC1):c.423C>G (p.Arg141=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1740529	NM_001363.5(DKC1):c.442A>G (p.Ser148Gly)	DKC1 (S148G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 529176	NM_001363.5(DKC1):c.487A>C (p.Ile163Leu)	DKC1 (I163L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked +1 more	GUncertain significance
Select item 1366877	NM_001363.5(DKC1):c.494G>C (p.Gly165Ala)	DKC1 (G165A)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GConflicting classifications of pathogenicity
Select item 1629555	NM_001363.5(DKC1):c.582C>G (p.Leu194=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1160691	NM_001363.5(DKC1):c.600C>T (p.Tyr200=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 567290	NM_001363.5(DKC1):c.622G>A (p.Asp208Asn)	DKC1 (D208N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GConflicting classifications of pathogenicity
Select item 2277200	NM_001363.5(DKC1):c.749G>A (p.Arg250His)	DKC1 (R250H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 38952	NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)	DKC1 (S280R)	Single nucleotide variant (missense variant +1 more)	DKC1-related disorder +3 more	GBenign/Likely benign
Select item 706781	NM_001363.5(DKC1):c.877T>C (p.Leu293=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 755691	NM_001363.5(DKC1):c.915+10G>A	DKC1	Single nucleotide variant (intron variant)	not provided +2 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 1772549	NM_001363.5(DKC1):c.1036+10G>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 1775562	NM_001363.5(DKC1):c.1046T>C (p.Leu349Ser)	DKC1 (L349S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
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 1103605	NM_001363.5(DKC1):c.1059G>A (p.Ala353=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 11595	NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala)	DKC1 (T357A)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
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
Select item 697360	NM_001363.5(DKC1):c.1293G>A (p.Val431=)	DKC1	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita +1 more	GLikely benign
Select item 2463764	NM_001363.5(DKC1):c.1445G>T (p.Gly482Val)	DKC1 (G482V +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 590231	NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)	DKC1 (G486R +1 more)	Single nucleotide variant (missense variant +2 more)	DKC1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 128896	NM_001363.5(DKC1):c.1461C>T (p.Ala487=)	DKC1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 1010558	NM_001363.5(DKC1):c.1471G>A (p.Asp491Asn)	DKC1 (D486N +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 210847	NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)	DKC1	Microsatellite (inframe_insertion +2 more)	Dyskeratosis congenita +3 more	GBenign/Likely benign
Select item 238951	NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)	DKC1 (K505del +1 more)	Microsatellite (inframe_deletion +2 more)	Dyskeratosis congenita, X-linked +3 more	GConflicting classifications of pathogenicity

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Items: 34