DKC1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1254959	NC_000023.11:g.154762460C>G	DKC1	Single nucleotide variant	not provided	GBenign
Select item 1198796	NC_000023.11:g.154762624A>G	DKC1	Single nucleotide variant	not provided	GLikely benign
Select item 1336801	NM_001363.5(DKC1):c.-19G>C	DKC1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 2828899	NM_001363.5(DKC1):c.5_7del (p.Ala2del)	DKC1 (A2del)	Deletion (inframe_deletion +2 more)	Dyskeratosis congenita	GPathogenic
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 3009252	NM_001363.5(DKC1):c.12G>A (p.Ala4=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 434941	NM_001363.5(DKC1):c.16+5G>A	DKC1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3054252	NM_001363.5(DKC1):c.16+7G>A	DKC1	Single nucleotide variant (intron variant)	DKC1-related disorder	GLikely benign
Select item 3020157	NM_001363.5(DKC1):c.16+8C>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3007484	NM_001363.5(DKC1):c.16+10G>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2976632	NM_001363.5(DKC1):c.16+11C>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1629821	NM_001363.5(DKC1):c.16+24_16+39del	DKC1	Deletion (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2766155	NM_001363.5(DKC1):c.16+18C>G	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1295610	NM_001363.5(DKC1):c.16+202C>T	DKC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223549	NM_001363.5(DKC1):c.16+219C>T	DKC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 11590	NM_001363.5(DKC1):c.16+592C>G	DKC1	Single nucleotide variant (intron variant)	DKC1-related disorder +1 more	GPathogenic
Select item 1673027	NM_001363.5(DKC1):c.17-14_17-13del	DKC1	Microsatellite (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2852064	NM_001363.5(DKC1):c.17-16G>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2791264	NM_001363.5(DKC1):c.17-16G>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1561425	NM_001363.5(DKC1):c.17-10G>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2860127	NM_001363.5(DKC1):c.17-9T>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2908046	NM_001363.5(DKC1):c.17-7T>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 459584	NM_001363.5(DKC1):c.20T>C (p.Ile7Thr)	DKC1 (I7T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 756357	NM_001363.5(DKC1):c.21T>A (p.Ile7=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1980752	NM_001363.5(DKC1):c.30A>G (p.Pro10=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1670367	NM_001363.5(DKC1):c.36A>G (p.Lys12=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 701556	NM_001363.5(DKC1):c.39T>C (p.His13=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 960459	NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del)	DKC1 (K17del)	Microsatellite (inframe_deletion +1 more)	Dyskeratosis congenita, X-linked +1 more	GUncertain significance
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 2905766	NM_001363.5(DKC1):c.42G>A (p.Lys14=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1434717	NM_001363.5(DKC1):c.52_54del (p.Glu18del)	DKC1 (E18del)	Deletion (inframe_deletion +1 more)	Dyskeratosis congenita	GUncertain significance
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 1335800	NM_001363.5(DKC1):c.55C>G (p.Arg19Gly)	DKC1 (R19G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2200872	NM_001363.5(DKC1):c.59A>G (p.Lys20Arg)	DKC1 (K20R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GLikely benign
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 839448	NM_001363.5(DKC1):c.64T>G (p.Leu22Val)	DKC1 (L22V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1163790	NM_001363.5(DKC1):c.65T>C (p.Leu22Ser)	DKC1 (L22S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2766533	NM_001363.5(DKC1):c.67C>A (p.Pro23Thr)	DKC1 (P23T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
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 1721936	NM_001363.5(DKC1):c.75A>T (p.Glu25Asp)	DKC1 (E25D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1540434	NM_001363.5(DKC1):c.75A>G (p.Glu25=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1026304	NM_001363.5(DKC1):c.84C>T (p.Ala28=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2781139	NM_001363.5(DKC1):c.84+8del	DKC1	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 529200	NM_001363.5(DKC1):c.84+10A>T	DKC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2742390	NM_001363.5(DKC1):c.84+13G>C	DKC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2845937	NM_001363.5(DKC1):c.84+15dup	DKC1	Duplication (non-coding transcript variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2713657	NM_001363.5(DKC1):c.84+16T>A	DKC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2181424	NM_001363.5(DKC1):c.84+19G>T	DKC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GBenign
Select item 1192124	NM_001363.5(DKC1):c.84+238A>G	DKC1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2764496	NM_001363.5(DKC1):c.85-18A>G	DKC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1079862	NM_001363.5(DKC1):c.85-5C>T	DKC1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +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	GLikely benign
Select item 2887970	NM_001363.5(DKC1):c.88A>G (p.Ile30Val)	DKC1 (I30V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2740531	NM_001363.5(DKC1):c.90A>C (p.Ile30=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
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 1622690	NM_001363.5(DKC1):c.93A>G (p.Gln31=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1671891	NM_001363.5(DKC1):c.96C>T (p.His32=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 854161	NM_001363.5(DKC1):c.97G>A (p.Ala33Thr)	DKC1 (A33T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2852099	NM_001363.5(DKC1):c.99T>C (p.Ala33=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
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 2664154	NM_001363.5(DKC1):c.114C>G (p.Ile38Met)	DKC1 (I38M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GLikely pathogenic
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 1137607	NM_001363.5(DKC1):c.126C>G (p.Ser42=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
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 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 1600369	NM_001363.5(DKC1):c.138G>A (p.Lys46=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GBenign
Select item 1947653	NM_001363.5(DKC1):c.142G>A (p.Asp48Asn)	DKC1 (D48N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
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 2045304	NM_001363.5(DKC1):c.147G>A (p.Thr49=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 574416	NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr)	DKC1 (S50Y)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GLikely pathogenic
Select item 1092690	NM_001363.5(DKC1):c.159C>T (p.Pro53=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
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 1083439	NM_001363.5(DKC1):c.171+8G>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1235128	NM_001363.5(DKC1):c.171+14del	DKC1	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2898677	NM_001363.5(DKC1):c.171+16C>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2739842	NM_001363.5(DKC1):c.171+16C>G	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2761118	NM_001363.5(DKC1):c.171+17G>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2892568	NM_001363.5(DKC1):c.172-18_172-14del	DKC1	Microsatellite (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1605468	NM_001363.5(DKC1):c.172-13C>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2820955	NM_001363.5(DKC1):c.172-12G>C	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1666170	NM_001363.5(DKC1):c.172-12G>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GBenign
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 2978099	NM_001363.5(DKC1):c.189T>C (p.Asn63=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
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 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 2579111	NM_001363.5(DKC1):c.197C>T (p.Thr66Ile)	DKC1 (T66I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 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 446380	NM_001363.5(DKC1):c.203A>G (p.His68Arg)	DKC1 (H68R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 1343818	NM_001363.5(DKC1):c.204C>G (p.His68Gln)	DKC1 (H68Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GLikely pathogenic
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 2716927	NM_001363.5(DKC1):c.207T>C (p.Tyr69=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GBenign

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