NHP2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2067442	NM_017838.4(NHP2):c.336+20_336+21del	NHP2	Deletion (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1165686	NM_017838.4(NHP2):c.336+20del	NHP2	Deletion (intron variant)	Dyskeratosis congenita	GBenign
Select item 2148526	NM_017838.4(NHP2):c.336+18C>T	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1664596	NM_017838.4(NHP2):c.336+12G>A	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2162949	NM_017838.4(NHP2):c.336+11C>T	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2830539	NM_017838.4(NHP2):c.336+2T>C	NHP2	Single nucleotide variant (intron variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1516131	NM_017838.4(NHP2):c.336G>A (p.Thr112=)	NHP2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 840508	NM_017838.4(NHP2):c.335C>T (p.Thr112Met)	NHP2 (T112M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1063361	NM_017838.4(NHP2):c.328T>A (p.Ser110Thr)	NHP2 (S110T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1904532	NM_017838.4(NHP2):c.326C>T (p.Pro109Leu)	NHP2 (P109L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2083069	NM_017838.4(NHP2):c.324C>T (p.Ile108=)	NHP2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2057547	NM_017838.4(NHP2):c.319dup (p.Tyr107fs)	NHP2 (Y107fs)	Duplication (frameshift variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1366957	NM_017838.4(NHP2):c.320A>G (p.Tyr107Cys)	NHP2 (Y107C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2883934	NM_017838.4(NHP2):c.319T>A (p.Tyr107Asn)	NHP2 (Y107N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2609252	NM_017838.4(NHP2):c.316G>A (p.Val106Ile)	NHP2 (V106I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1056387	NM_017838.4(NHP2):c.314A>G (p.Tyr105Cys)	NHP2 (Y105C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3199808	NM_017838.4(NHP2):c.311C>T (p.Pro104Leu)	NHP2 (P104L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 241213	NM_017838.4(NHP2):c.302G>A (p.Arg101Gln)	NHP2 (R101Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2274401	NM_017838.4(NHP2):c.298G>A (p.Asp100Asn)	NHP2 (D100N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 854979	NM_017838.4(NHP2):c.292T>G (p.Cys98Gly)	NHP2 (C98G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 965425	NM_017838.4(NHP2):c.289_290del (p.Met97fs)	NHP2 (M97fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 570667	NM_017838.4(NHP2):c.290T>C (p.Met97Thr)	NHP2 (M97T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 643775	NM_017838.4(NHP2):c.289A>G (p.Met97Val)	NHP2 (M97V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 660885	NM_017838.4(NHP2):c.267_270del (p.Glu89fs)	NHP2 (E89fs)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 241212	NM_017838.4(NHP2):c.270A>G (p.Val90=)	NHP2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3022119	NM_017838.4(NHP2):c.267G>A (p.Glu89=)	NHP2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2180970	NM_017838.4(NHP2):c.266A>C (p.Glu89Ala)	NHP2 (E89A)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2906461	NM_017838.4(NHP2):c.262A>G (p.Ile88Val)	NHP2 (I88V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2148557	NM_017838.4(NHP2):c.259C>T (p.Pro87Ser)	NHP2 (P87S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 576605	NM_017838.4(NHP2):c.237G>A (p.Met79Ile)	NHP2 (M79I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1403254	NM_017838.4(NHP2):c.236T>C (p.Met79Thr)	NHP2 (M79T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1691883	NM_017838.4(NHP2):c.235A>T (p.Met79Leu)	NHP2 (M79L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 664747	NM_017838.4(NHP2):c.233T>A (p.Ile78Asn)	NHP2 (I78N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2865048	NM_017838.4(NHP2):c.231G>C (p.Gly77=)	NHP2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2173188	NM_017838.4(NHP2):c.231-13TC[2]	NHP2	Microsatellite (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2891710	NM_017838.4(NHP2):c.231-9T>C	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 2053710	NM_017838.4(NHP2):c.231-13dup	NHP2	Duplication (intron variant)	Dyskeratosis congenita	GBenign
Select item 353024	NM_017838.4(NHP2):c.231-17_231-16del	NHP2	Microsatellite (intron variant)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 2079973	NM_017838.4(NHP2):c.231-20dup	NHP2	Duplication (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1644299	NM_017838.4(NHP2):c.231-20_231-19del	NHP2	Deletion (intron variant)	Dyskeratosis congenita	GBenign
Select item 1185950	NM_017838.4(NHP2):c.231-228A>G	NHP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201184	NM_017838.4(NHP2):c.231-276G>A	NHP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206837	NM_017838.4(NHP2):c.230+81G>A	NHP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1541385	NM_017838.4(NHP2):c.230+19C>G	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1626119	NM_017838.4(NHP2):c.230+17C>T	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2713041	NM_017838.4(NHP2):c.230+16C>T	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2728426	NM_017838.4(NHP2):c.230+13C>A	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1459299	NM_017838.4(NHP2):c.230+13C>T	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1159775	NM_017838.4(NHP2):c.230+8C>A	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 645649	NM_017838.4(NHP2):c.230+4dup	NHP2	Duplication (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 1396507	NM_017838.4(NHP2):c.228A>C (p.Lys76Asn)	NHP2 (K76N)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1980982	NM_017838.4(NHP2):c.220G>A (p.Gly74Arg)	NHP2 (G74R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2188563	NM_017838.4(NHP2):c.216C>G (p.Asn72Lys)	NHP2 (N72K)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 942071	NM_017838.4(NHP2):c.215A>G (p.Asn72Ser)	NHP2 (N72S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 703727	NM_017838.4(NHP2):c.213C>G (p.Val71=)	NHP2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2163772	NM_017838.4(NHP2):c.210T>C (p.Phe70=)	NHP2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2057866	NM_017838.4(NHP2):c.204G>T (p.Gln68His)	NHP2 (Q68H)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 529179	NM_017838.4(NHP2):c.197_198del (p.Glu66fs)	NHP2 (E66fs)	Microsatellite (frameshift variant)	Dyskeratosis congenita	GUncertain significance
Select item 2733343	NM_017838.4(NHP2):c.196G>A (p.Glu66Lys)	NHP2 (E66K)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1149370	NM_017838.4(NHP2):c.195A>G (p.Lys65=)	NHP2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 353025	NM_017838.4(NHP2):c.190G>A (p.Val64Met)	NHP2 (V64M)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 945687	NM_017838.4(NHP2):c.187G>C (p.Gly63Arg)	NHP2 (G63R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2060972	NM_017838.4(NHP2):c.186C>G (p.Arg62=)	NHP2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 844281	NM_017838.4(NHP2):c.182G>A (p.Arg61Gln)	NHP2 (R61Q)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 841317	NM_017838.4(NHP2):c.181C>T (p.Arg61Trp)	NHP2 (R61W)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1427995	NM_017838.4(NHP2):c.177G>C (p.Gln59His)	NHP2 (Q59H)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1718942	NM_017838.4(NHP2):c.172A>C (p.Lys58Gln)	NHP2 (K58Q)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1350575	NM_017838.4(NHP2):c.167A>G (p.Lys56Arg)	NHP2 (K56R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 857351	NM_017838.4(NHP2):c.163G>A (p.Val55Met)	NHP2 (V55M)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1940911	NM_017838.4(NHP2):c.162G>C (p.Ala54=)	NHP2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 1418785	NM_017838.4(NHP2):c.161-2A>T	NHP2	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita	GUncertain significance
Select item 2064975	NM_017838.4(NHP2):c.161-4G>A	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1994487	NM_017838.4(NHP2):c.161-5T>G	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2918959	NM_017838.4(NHP2):c.161-7G>A	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2902650	NM_017838.4(NHP2):c.161-8C>T	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1533765	NM_017838.4(NHP2):c.161-15C>G	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1161311	NM_017838.4(NHP2):c.160+18G>T	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2147032	NM_017838.4(NHP2):c.160+16G>A	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 260941	NM_017838.4(NHP2):c.160+16G>C	NHP2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2709289	NM_017838.4(NHP2):c.160+14C>A	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1626559	NM_017838.4(NHP2):c.160+13G>A	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2742548	NM_017838.4(NHP2):c.160+12G>A	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1582321	NM_017838.4(NHP2):c.160+11C>G	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1540602	NM_017838.4(NHP2):c.160+11C>A	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 353026	NM_017838.4(NHP2):c.160+11C>T	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita +1 more	GBenign/Likely benign
Select item 1654082	NM_017838.4(NHP2):c.160+10A>C	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1092651	NM_017838.4(NHP2):c.160+10A>G	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 353027	NM_017838.4(NHP2):c.160+10A>T	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 2197882	NM_017838.4(NHP2):c.160+9del	NHP2	Deletion (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 435988	NM_017838.4(NHP2):c.160+9G>A	NHP2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1666725	NM_017838.4(NHP2):c.160+8G>A	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2883027	NM_017838.4(NHP2):c.160+7C>T	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2915095	NM_017838.4(NHP2):c.160+5G>C	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 2191234	NM_017838.4(NHP2):c.160+4A>G	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 529181	NM_017838.4(NHP2):c.160+4A>C	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 2918752	NM_017838.4(NHP2):c.160G>A (p.Ala54Thr)	NHP2 (A54T)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2730592	NM_017838.4(NHP2):c.157A>G (p.Lys53Glu)	NHP2 (K53E)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2133823	NM_017838.4(NHP2):c.156G>C (p.Lys52Asn)	NHP2 (K52N)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1448128	NM_017838.4(NHP2):c.155A>G (p.Lys52Arg)	NHP2 (K52R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1336495	NM_017838.4(NHP2):c.153C>G (p.Ile51Met)	NHP2 (I51M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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