"Sema4, Sema4"[submitter] AND "DKC1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	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	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1014953	NM_001363.5(DKC1):c.41A>G (p.Lys14Arg)	DKC1 (K14R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GConflicting classifications of pathogenicity
Select item 1692638	NM_001363.5(DKC1):c.70G>A (p.Glu24Lys)	DKC1 (E24K)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1692637	NM_001363.5(DKC1):c.264-8C>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1364320	NM_001363.5(DKC1):c.537C>G (p.Ala179=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GUncertain significance
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 1692639	NM_001363.5(DKC1):c.822T>C (p.Asp274=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 38952	NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)	DKC1 (S280R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked +3 more	GBenign/Likely benign
Select item 1169272	NM_001363.5(DKC1):c.915+8C>T	DKC1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 697116	NM_001363.5(DKC1):c.1167G>A (p.Lys389=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GConflicting classifications of pathogenicity
Select item 1692636	NM_001363.5(DKC1):c.1352G>C (p.Ser451Thr)	DKC1 (S446T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 703265	NM_001363.5(DKC1):c.1362A>G (p.Glu454=)	DKC1	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita	GLikely benign
Select item 569599	NM_001363.5(DKC1):c.1409AGA[2] (p.Lys472del)	DKC1 (K472del +1 more)	Microsatellite (3 prime UTR variant +2 more)	Dyskeratosis congenita	GBenign/Likely benign
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 210847	NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)	DKC1	Microsatellite (inframe_insertion +2 more)	not provided +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 +3 more	GConflicting classifications of pathogenicity