NHP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 151624	GRCh38/hg38 5q35.3(chr5:178021540-178160440)x3	LOC116158535, LOC121740634 +12 more	Copy number gain	See cases	GLikely benign
Select item 1699894	NM_017838.4(NHP2):c.*226G>A	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 260940	NM_017838.4(NHP2):c.*11T>A	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 435985	NM_017838.4(NHP2):c.*8C>T	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 584335	NC_000005.10:g.(?_178149707)_(178153823_?)del	NHP2, RMND5B	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 3353648	NM_017838.4(NHP2):c.*4G>A	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant)	NHP2-related disorder	GLikely benign
Select item 1432972	NM_017838.4(NHP2):c.460T>G (p.Ter154Gly)	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 4282	NM_017838.4(NHP2):c.460T>A (p.Ter154Arg)	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1991352	NM_017838.4(NHP2):c.456C>A (p.Pro152=)	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2096625	NM_017838.4(NHP2):c.455C>T (p.Pro152Leu)	NHP2, RMND5B (P152L)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1466556	NM_017838.4(NHP2):c.449C>A (p.Pro150His)	NHP2, RMND5B (P150H)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1645196	NM_017838.4(NHP2):c.447G>A (p.Leu149=)	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 972388	NM_017838.4(NHP2):c.441G>T (p.Gln147His)	NHP2, RMND5B (Q147H)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2875896	NM_017838.4(NHP2):c.439C>T (p.Gln147Ter)	NHP2, RMND5B (Q147*)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1374273	NM_017838.4(NHP2):c.439C>A (p.Gln147Lys)	NHP2, RMND5B (Q147K)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2001777	NM_017838.4(NHP2):c.436G>C (p.Val146Leu)	NHP2, RMND5B (V146L)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1484639	NM_017838.4(NHP2):c.434A>T (p.Glu145Val)	NHP2, RMND5B (E145V)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2106996	NM_017838.4(NHP2):c.422A>G (p.Glu141Gly)	NHP2, RMND5B (E141G)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1026003	NM_017838.4(NHP2):c.418G>A (p.Asp140Asn)	NHP2, RMND5B (D140N)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1078550	NM_017838.4(NHP2):c.417C>T (p.Tyr139=)	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 4280	NM_017838.4(NHP2):c.415T>C (p.Tyr139His)	NHP2, RMND5B (Y139H)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 2	GPathogenic
Select item 854558	NM_017838.4(NHP2):c.397GAG[1] (p.Glu134del)	NHP2, RMND5B (E134del)	Microsatellite (inframe_indel +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 2047298	NM_017838.4(NHP2):c.397G>A (p.Glu133Lys)	NHP2, RMND5B (E133K)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 572989	NM_017838.4(NHP2):c.388_395dup (p.His132fs)	NHP2, RMND5B (H132fs)	Duplication (frameshift variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 934247	NM_017838.4(NHP2):c.394C>T (p.His132Tyr)	NHP2, RMND5B (H132Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 2 +1 more	GUncertain significance
Select item 2071769	NM_017838.4(NHP2):c.391C>A (p.Pro131Thr)	RMND5B, NHP2 (P131T)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 241215	NM_017838.4(NHP2):c.383T>C (p.Met128Thr)	NHP2, RMND5B (M128T)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1538040	NM_017838.4(NHP2):c.378G>A (p.Val126=)	NHP2, RMND5B	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +1 more	GLikely benign
Select item 4281	NM_017838.4(NHP2):c.376G>A (p.Val126Met)	NHP2, RMND5B (V126M)	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita, autosomal recessive 2	GPathogenic
Select item 2164637	NM_017838.4(NHP2):c.369dup (p.Thr124fs)	NHP2, RMND5B (T124fs +2 more)	Duplication (frameshift variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 435986	NM_017838.4(NHP2):c.369C>T (p.Pro123=)	NHP2, RMND5B (P88L +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita +1 more	GLikely benign
Select item 1554146	NM_017838.4(NHP2):c.366C>G (p.Arg122=)	NHP2, RMND5B (A87G +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GLikely benign
Select item 2974055	NM_017838.4(NHP2):c.365G>A (p.Arg122His)	NHP2, RMND5B (A165T +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2920170	NM_017838.4(NHP2):c.364C>A (p.Arg122Ser)	NHP2, RMND5B (S86R +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1436804	NM_017838.4(NHP2):c.364C>T (p.Arg122Cys)	NHP2, RMND5B (R122C)	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 1445797	NM_017838.4(NHP2):c.362A>G (p.Lys121Arg)	NHP2, RMND5B (K121R +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1917923	NM_017838.4(NHP2):c.355G>A (p.Gly119Ser)	NHP2, RMND5B (G119S)	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 1480987	NM_017838.4(NHP2):c.355G>C (p.Gly119Arg)	NHP2, RMND5B (Q83H +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 416618	NM_017838.4(NHP2):c.352G>A (p.Ala118Thr)	NHP2, RMND5B (A118T)	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita +2 more	GBenign/Likely benign
Select item 241214	NM_017838.4(NHP2):c.351C>T (p.Ala117=)	NHP2, RMND5B (P82L +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita, autosomal recessive 1 +3 more	GBenign/Likely benign
Select item 3068016	NM_022762.5(RMND5B):c.*1800C>G	NHP2, RMND5B (G115R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1645979	NM_017838.4(NHP2):c.337-11C>T	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1606761	NM_017838.4(NHP2):c.337-14T>C	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita +2 more	GBenign/Likely benign
Select item 1896348	NM_017838.4(NHP2):c.337-15C>T	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2791222	NM_017838.4(NHP2):c.337-18C>T	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1219884	NM_017838.4(NHP2):c.337-29del	RMND5B, NHP2	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1201611	NM_017838.4(NHP2):c.337-133G>A	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1260088	NM_017838.4(NHP2):c.337-299A>G	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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)	Dyskeratosis congenita +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

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