CN294808[trait identifier] AND "PreventionGenetics, part of Exact Scie - ClinVar

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Items: 22

	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 3054252	NM_001363.5(DKC1):c.16+7G>A	DKC1	Single nucleotide variant (intron variant)	DKC1-related disorder	GLikely benign
Select item 1026304	NM_001363.5(DKC1):c.84C>T (p.Ala28=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 529200	NM_001363.5(DKC1):c.84+10A>T	DKC1	Single nucleotide variant (non-coding transcript variant +1 more)	DKC1-related disorder +1 more	GLikely benign
Select item 698478	NM_001363.5(DKC1):c.85-4G>A	DKC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +1 more	GLikely benign
Select item 2628809	NM_001363.5(DKC1):c.199A>G (p.Thr67Ala)	DKC1 (T67A)	Single nucleotide variant (missense variant +1 more)	DKC1-related disorder	GUncertain significance
Select item 1084743	NM_001363.5(DKC1):c.267A>C (p.Thr89=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +1 more	GLikely benign
Select item 2632874	NM_001363.5(DKC1):c.329G>A (p.Arg110Gln)	DKC1 (R110Q)	Single nucleotide variant (missense variant +1 more)	DKC1-related disorder	GUncertain significance
Select item 1047250	NM_001363.5(DKC1):c.484G>A (p.Ala162Thr)	DKC1 (A162T)	Single nucleotide variant (missense variant +1 more)	DKC1-related disorder +1 more	GUncertain significance
Select item 3036414	NM_001363.5(DKC1):c.641-18TG[4]	DKC1	Microsatellite (intron variant)	DKC1-related disorder	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 +3 more	GBenign/Likely benign
Select item 1169272	NM_001363.5(DKC1):c.915+8C>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita +2 more	GBenign/Likely benign
Select item 952260	NM_001363.5(DKC1):c.1036+6_1036+7del	DKC1	Microsatellite (intron variant)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 2630979	NM_001363.5(DKC1):c.1141G>A (p.Gly381Ser)	DKC1 (G381S)	Single nucleotide variant (missense variant +1 more)	DKC1-related disorder	GUncertain significance
Select item 701791	NM_001363.5(DKC1):c.1155+8G>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita +1 more	GLikely benign
Select item 967191	NM_001363.5(DKC1):c.1210C>G (p.Pro404Ala)	DKC1 (P404A)	Single nucleotide variant (missense variant +1 more)	DKC1-related disorder +1 more	GUncertain significance
Select item 697360	NM_001363.5(DKC1):c.1293G>A (p.Val431=)	DKC1	Single nucleotide variant (synonymous variant +2 more)	DKC1-related disorder +1 more	GLikely benign
Select item 696852	NM_001363.5(DKC1):c.1431G>A (p.Lys477=)	DKC1	Single nucleotide variant (synonymous variant +2 more)	DKC1-related disorder +2 more	GBenign
Select item 590231	NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)	DKC1 (G486R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
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 412223	NM_001363.5(DKC1):c.1494GAA[9] (p.Lys504_Lys505dup)	DKC1	Microsatellite (inframe_insertion +2 more)	DKC1-related disorder +1 more	GLikely benign
Select item 238951	NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)	DKC1 (K505del +1 more)	Microsatellite (inframe_deletion +2 more)	not specified +3 more	GConflicting classifications of pathogenicity

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Items: 22