29039[HGNC] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 57468	GRCh38/hg38 1q21.2(chr1:150034379-150414215)x1	ANP32E, APH1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 149773	GRCh38/hg38 1q21.2(chr1:150214843-150565007)x3	ADAMTSL4, ADAMTSL4-AS1 +37 more	Copy number gain	See cases	GLikely benign
Select item 3156174	NM_015203.5(RPRD2):c.37T>G (p.Ser13Ala)	LOC129931404, RPRD2 (S13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215616	NM_015203.5(RPRD2):c.65C>T (p.Ala22Val)	LOC129931404, RPRD2 (A22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514583	NM_015203.5(RPRD2):c.179A>G (p.Tyr60Cys)	LOC129931404, RPRD2 (Y60C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791611	NM_015203.5(RPRD2):c.585A>G (p.Glu195=)	RPRD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2393994	NM_015203.5(RPRD2):c.604C>T (p.Arg202Cys)	RPRD2 (R202C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261885	NM_015203.5(RPRD2):c.739A>C (p.Ser247Arg)	RPRD2 (S111R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621388	NM_015203.5(RPRD2):c.772G>C (p.Asp258His)	RPRD2 (D232H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221289	NM_015203.5(RPRD2):c.797C>T (p.Ser266Leu)	RPRD2 (S130L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462505	NM_015203.5(RPRD2):c.1196C>A (p.Ser399Tyr)	RPRD2 (S183Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255252	NM_015203.5(RPRD2):c.1219A>G (p.Thr407Ala)	RPRD2 (T381A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156164	NM_015203.5(RPRD2):c.1246T>C (p.Cys416Arg)	RPRD2 (C280R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317987	NM_015203.5(RPRD2):c.1247G>A (p.Cys416Tyr)	RPRD2 (C200Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315272	NM_015203.5(RPRD2):c.1276A>G (p.Thr426Ala)	RPRD2 (T426A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156165	NM_015203.5(RPRD2):c.1496C>T (p.Ala499Val)	RPRD2 (A363V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591752	NM_015203.5(RPRD2):c.1504A>C (p.Thr502Pro)	RPRD2 (T366P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315275	NM_015203.5(RPRD2):c.1517C>T (p.Pro506Leu)	RPRD2 (P370L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521661	NM_015203.5(RPRD2):c.1534T>C (p.Ser512Pro)	RPRD2 (S486P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305715	NM_015203.5(RPRD2):c.1694C>G (p.Pro565Arg)	RPRD2 (P539R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204868	NM_015203.5(RPRD2):c.2129G>A (p.Arg710His)	RPRD2 (R427H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156166	NM_015203.5(RPRD2):c.2149A>G (p.Ile717Val)	RPRD2 (I434V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2456837	NM_015203.5(RPRD2):c.2176C>T (p.Arg726Trp)	RPRD2 (R590W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408801	NM_015203.5(RPRD2):c.2177G>A (p.Arg726Gln)	RPRD2 (R633Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156167	NM_015203.5(RPRD2):c.2186G>A (p.Arg729Gln)	RPRD2 (R703Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294323	NM_015203.5(RPRD2):c.2251T>C (p.Ser751Pro)	RPRD2 (S468P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639159	NM_015203.5(RPRD2):c.2283C>T (p.Ser761=)	RPRD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2231548	NM_015203.5(RPRD2):c.2302A>G (p.Arg768Gly)	RPRD2 (R742G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460990	NM_015203.5(RPRD2):c.2339G>A (p.Arg780Gln)	RPRD2 (R497Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315270	NM_015203.5(RPRD2):c.2505T>A (p.Asp835Glu)	RPRD2 (D552E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473836	NM_015203.5(RPRD2):c.2566T>A (p.Ser856Thr)	RPRD2 (S573T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156168	NM_015203.5(RPRD2):c.2714G>A (p.Arg905His)	RPRD2 (R769H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156169	NM_015203.5(RPRD2):c.2740G>T (p.Gly914Cys)	RPRD2 (G914C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156170	NM_015203.5(RPRD2):c.2780G>A (p.Arg927Gln)	RPRD2 (R791Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474281	NM_015203.5(RPRD2):c.2866A>G (p.Ser956Gly)	RPRD2 (S673G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364724	NM_015203.5(RPRD2):c.3008C>T (p.Thr1003Ile)	RPRD2 (T1003I +5 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2619698	NM_015203.5(RPRD2):c.3149C>G (p.Thr1050Ser)	RPRD2 (T1050S +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2593159	NM_015203.5(RPRD2):c.3151G>A (p.Ala1051Thr)	RPRD2 (A958T +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2283788	NM_015203.5(RPRD2):c.3158A>G (p.Asp1053Gly)	RPRD2 (D917G +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3315269	NM_015203.5(RPRD2):c.3199G>A (p.Val1067Ile)	RPRD2 (V1041I +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3156171	NM_015203.5(RPRD2):c.3247G>T (p.Ala1083Ser)	RPRD2 (A1083S +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3156172	NM_015203.5(RPRD2):c.3418A>G (p.Asn1140Asp)	RPRD2 (N1004D +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2295829	NM_015203.5(RPRD2):c.3444G>C (p.Leu1148Phe)	RPRD2 (L1012F +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3156173	NM_015203.5(RPRD2):c.3446C>T (p.Ala1149Val)	RPRD2 (A1056V +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2493031	NM_015203.5(RPRD2):c.3494C>T (p.Ala1165Val)	RPRD2 (A1029V +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2639160	NM_015203.5(RPRD2):c.3507A>G (p.Glu1169=)	RPRD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2324999	NM_015203.5(RPRD2):c.3509G>A (p.Arg1170Gln)	RPRD2 (R1077Q +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2552011	NM_015203.5(RPRD2):c.3600A>T (p.Glu1200Asp)	RPRD2 (E1064D +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3315276	NM_015203.5(RPRD2):c.3604G>A (p.Gly1202Arg)	RPRD2 (G1066R +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2358923	NM_015203.5(RPRD2):c.3634C>T (p.Pro1212Ser)	RPRD2 (P1076S +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3315271	NM_015203.5(RPRD2):c.3667C>A (p.His1223Asn)	RPRD2 (H1130N +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2304408	NM_015203.5(RPRD2):c.3707C>T (p.Pro1236Leu)	RPRD2 (P1143L +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2363961	NM_015203.5(RPRD2):c.3751G>A (p.Ala1251Thr)	RPRD2 (A1184T +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2490897	NM_015203.5(RPRD2):c.3884C>G (p.Pro1295Arg)	RPRD2 (P1295R +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2552392	NM_015203.5(RPRD2):c.4048G>A (p.Gly1350Arg)	RPRD2 (G1214R +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2294820	NM_015203.5(RPRD2):c.4051G>T (p.Gly1351Cys)	RPRD2 (G1351C +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2466176	NM_015203.5(RPRD2):c.4064G>A (p.Arg1355Gln)	RPRD2 (R1262Q +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3315274	NM_015203.5(RPRD2):c.4076G>A (p.Gly1359Asp)	RPRD2 (G1076D +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2290586	NM_015203.5(RPRD2):c.4087A>G (p.Ser1363Gly)	RPRD2 (S1080G +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3156175	NM_015203.5(RPRD2):c.4151G>A (p.Gly1384Glu)	RPRD2 (G1291E +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3156176	NM_015203.5(RPRD2):c.4192C>A (p.Pro1398Thr)	RPRD2 (P1262T +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2601753	NM_015203.5(RPRD2):c.4192C>G (p.Pro1398Ala)	RPRD2 (P1262A +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2568902	NM_015203.5(RPRD2):c.4193C>G (p.Pro1398Arg)	RPRD2 (P1115R +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2335125	NM_015203.5(RPRD2):c.4213G>C (p.Asp1405His)	RPRD2 (D1122H +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3156177	NM_015203.5(RPRD2):c.4235T>G (p.Ile1412Arg)	RPRD2 (I1412R +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3156178	NM_015203.5(RPRD2):c.4253G>A (p.Arg1418Gln)	RPRD2 (R1351Q +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2480735	NM_015203.5(RPRD2):c.4270A>G (p.Arg1424Gly)	RPRD2 (R1357G +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3315273	NM_015203.5(RPRD2):c.4336G>A (p.Gly1446Ser)	RPRD2 (G1163S +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3156179	NM_015203.5(RPRD2):c.4344G>A (p.Pro1448=)	RPRD2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062368	GRCh37/hg19 1q21.2-21.3(chr1:149713775-150385573)x1	ANP32E, APH1A +25 more	Copy number loss	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2425201	NC_000001.10:g.(?_150039915)_(150464158_?)dup	ANP32E, APH1A +9 more	Duplication	not provided	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRABP2, LCE2A +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +3 more	GUncertain significance
Select item 1411622	NC_000001.10:g.(?_150044213)_(150477474_?)dup	ANP32E, APH1A +9 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 685547	GRCh37/hg19 1q21.2-21.3(chr1:150270870-150527943)x3	ADAMTSL4, ECM1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 83