ClinVar for Gene (Select 64777) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3314629	NM_022762.5(RMND5B):c.464C>G (p.Pro155Arg)	RMND5B (P142R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314628	NM_022762.5(RMND5B):c.629C>T (p.Ala210Val)	RMND5B (A197V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314627	NM_022762.5(RMND5B):c.197G>A (p.Arg66Gln)	RMND5B (R53Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154830	NM_022762.5(RMND5B):c.943A>G (p.Asn315Asp)	RMND5B (N302D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154829	NM_022762.5(RMND5B):c.88G>C (p.Glu30Gln)	RMND5B (E30Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154828	NM_022762.5(RMND5B):c.809G>A (p.Arg270Gln)	LOC121740634, RMND5B (R257Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154827	NM_022762.5(RMND5B):c.793T>C (p.Cys265Arg)	LOC121740634, RMND5B (C265R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154826	NM_022762.5(RMND5B):c.776G>A (p.Ser259Asn)	LOC121740634, RMND5B (S259N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154825	NM_022762.5(RMND5B):c.370A>G (p.Ile124Val)	RMND5B (I111V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154824	NM_022762.5(RMND5B):c.152C>A (p.Thr51Asn)	RMND5B (T38N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154823	NM_022762.5(RMND5B):c.1063A>G (p.Ile355Val)	RMND5B (I355V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154822	NM_022762.5(RMND5B):c.1043C>G (p.Ser348Cys)	RMND5B (S348C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3062841	GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	B4GALT7, CLK4 +33 more	Copy number loss	not specified	GPathogenic
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 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 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 2596703	NM_022762.5(RMND5B):c.196C>T (p.Arg66Trp)	RMND5B (R66W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543045	NM_022762.5(RMND5B):c.304T>C (p.Cys102Arg)	RMND5B (C89R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526005	NM_022762.5(RMND5B):c.971T>C (p.Ile324Thr)	RMND5B (I324T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463314	NM_022762.5(RMND5B):c.535G>A (p.Val179Ile)	RMND5B (V166I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426362	NC_000005.9:g.(?_177419710)_(177578014_?)dup	N4BP3, NHP2 +2 more	Duplication	Dyskeratosis congenita	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2425705	NC_000005.9:g.(?_177031160)_(178414004_?)dup	B4GALT7, CLK4 +13 more	Duplication		GUncertain significance
Select item 2381813	NM_022762.5(RMND5B):c.962C>T (p.Pro321Leu)	RMND5B (P321L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367060	NM_022762.5(RMND5B):c.921G>T (p.Gln307His)	RMND5B (Q294H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355436	NM_022762.5(RMND5B):c.335C>T (p.Ala112Val)	RMND5B (A112V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339837	NM_022762.5(RMND5B):c.308G>A (p.Gly103Asp)	RMND5B (G90D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327308	NM_022762.5(RMND5B):c.949A>G (p.Lys317Glu)	RMND5B (K304E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285963	NM_022762.5(RMND5B):c.119G>A (p.Arg40Gln)	RMND5B (R40Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270229	NM_022762.5(RMND5B):c.100C>T (p.His34Tyr)	RMND5B (H34Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261193	NM_022762.5(RMND5B):c.808C>T (p.Arg270Trp)	LOC121740634, RMND5B (R257W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237657	NM_022762.5(RMND5B):c.721G>A (p.Val241Met)	LOC121740634, RMND5B (V241M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222002	NM_022762.5(RMND5B):c.1034C>T (p.Thr345Met)	RMND5B (T332M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217932	NM_022762.5(RMND5B):c.406G>A (p.Val136Met)	RMND5B (V123M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 1808750	GRCh37/hg19 5q35.2-35.3(chr5:176516440-177773252)x3	B4GALT7, COL23A1 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
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 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 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 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 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 1538040	NM_017838.4(NHP2):c.378G>A (p.Val126=)	NHP2, RMND5B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 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 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 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 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 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 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 1340213	GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3	B4GALT7, COL23A1 +25 more	Copy number gain	not provided	GLikely pathogenic
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 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 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 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 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979538	GRCh37/hg19 5q35.3(chr5:177383384-177926234)x3	RMND5B, N4BP3 +5 more	Copy number gain	not provided	GUncertain significance
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 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 854558	NM_017838.4(NHP2):c.397GAG[1] (p.Glu134del)	NHP2, RMND5B (E134del)	Microsatellite (inframe_indel +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 831880	NC_000005.10:g.(?_177600191)_(178153837_?)dup	B4GALT7, FAM153A +4 more	Duplication	Dyskeratosis congenita	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 685882	GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3	COL23A1, ADAMTS2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 584335	NC_000005.10:g.(?_178149707)_(178153823_?)del	NHP2, RMND5B	Deletion	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 563132	GRCh37/hg19 5q35.3(chr5:177532379-178306035)x3	CLK4, COL23A1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 563130	GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1	RUFY1, TMED9 +23 more	Copy number loss	not provided	GPathogenic
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 435986	NM_017838.4(NHP2):c.369C>T (p.Pro123=)	NHP2, RMND5B (P88L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GLikely 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 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 416618	NM_017838.4(NHP2):c.352G>A (p.Ala118Thr)	NHP2, RMND5B (A118T)	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 394684	GRCh37/hg19 5q35.3(chr5:177547218-177587441)x1	N4BP3, NHP2 +1 more	Copy number loss	See cases	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
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 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 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 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 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 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic

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