ClinVar for Gene (Select 9221) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201116	NM_004741.5(NOLC1):c.881C>T (p.Pro294Leu)	NOLC1 (P295L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201115	NM_004741.5(NOLC1):c.778C>G (p.Pro260Ala)	NOLC1 (P261A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201114	NM_004741.5(NOLC1):c.767C>T (p.Ala256Val)	NOLC1 (A266V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201113	NM_004741.5(NOLC1):c.757C>G (p.Pro253Ala)	NOLC1 (P254A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201112	NM_004741.5(NOLC1):c.749C>T (p.Ala250Val)	NOLC1 (A250V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201111	NM_004741.5(NOLC1):c.614C>G (p.Ala205Gly)	NOLC1 (A205G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201110	NM_004741.5(NOLC1):c.565C>T (p.Pro189Ser)	NOLC1 (P190S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201109	NM_004741.5(NOLC1):c.565C>A (p.Pro189Thr)	NOLC1 (P190T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201108	NM_004741.5(NOLC1):c.561A>G (p.Ile187Met)	NOLC1 (I187M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201107	NM_004741.5(NOLC1):c.415G>C (p.Glu139Gln)	NOLC1 (E139Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201106	NM_004741.5(NOLC1):c.233C>G (p.Ala78Gly)	NOLC1 (A79G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201105	NM_004741.5(NOLC1):c.2062T>A (p.Ser688Thr)	NOLC1 (S689T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201104	NM_004741.5(NOLC1):c.1889A>G (p.Glu630Gly)	NOLC1 (E630G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201103	NM_004741.5(NOLC1):c.1879A>G (p.Arg627Gly)	NOLC1 (R628G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201102	NM_004741.5(NOLC1):c.1697A>G (p.Glu566Gly)	NOLC1 (E567G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201101	NM_004741.5(NOLC1):c.1666A>G (p.Asn556Asp)	NOLC1 (N557D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201100	NM_004741.5(NOLC1):c.1300G>A (p.Glu434Lys)	NOLC1 (E444K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201099	NM_004741.5(NOLC1):c.1213G>A (p.Ala405Thr)	NOLC1 (A405T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201098	NM_004741.5(NOLC1):c.1046C>G (p.Thr349Ser)	NOLC1 (T350S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2640786	NM_004741.5(NOLC1):c.657T>C (p.Ser219=)	NOLC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623538	NM_004741.5(NOLC1):c.1937C>A (p.Ala646Asp)	NOLC1 (A647D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619413	NM_004741.5(NOLC1):c.337G>A (p.Gly113Ser)	NOLC1 (G113S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2611454	NM_004741.5(NOLC1):c.1538A>G (p.Lys513Arg)	NOLC1 (K513R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602720	NM_004741.5(NOLC1):c.1781A>T (p.Glu594Val)	NOLC1 (E594V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2533476	NM_004741.5(NOLC1):c.1960T>C (p.Trp654Arg)	NOLC1 (W655R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530824	NM_004741.5(NOLC1):c.785G>A (p.Arg262Gln)	NOLC1 (R272Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512915	NM_004741.5(NOLC1):c.1457C>G (p.Ser486Cys)	NOLC1 (S486C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511106	NM_004741.5(NOLC1):c.959A>G (p.Glu320Gly)	NOLC1 (E321G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507852	NM_004741.5(NOLC1):c.250T>A (p.Ser84Thr)	NOLC1 (S84T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493548	NM_004741.5(NOLC1):c.31C>G (p.Pro11Ala)	LOC126861023, NOLC1 (P11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483204	NM_004741.5(NOLC1):c.1369C>G (p.Leu457Val)	NOLC1 (L458V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481438	NM_004741.5(NOLC1):c.1855A>G (p.Lys619Glu)	NOLC1 (K619E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480306	NM_004741.5(NOLC1):c.338G>A (p.Gly113Asp)	NOLC1 (G114D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465775	NM_004741.5(NOLC1):c.401A>G (p.Asp134Gly)	NOLC1 (D134G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462934	NM_004741.5(NOLC1):c.137A>G (p.Asn46Ser)	NOLC1 (N46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 2401853	NM_004741.5(NOLC1):c.245C>G (p.Ala82Gly)	NOLC1 (A83G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373682	NM_004741.5(NOLC1):c.1951G>T (p.Ala651Ser)	NOLC1 (A651S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373146	NM_004741.5(NOLC1):c.2059A>G (p.Ile687Val)	NOLC1 (I697V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369112	NM_004741.5(NOLC1):c.1615C>A (p.Pro539Thr)	NOLC1 (P549T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369111	NM_004741.5(NOLC1):c.1610G>T (p.Gly537Val)	NOLC1 (G538V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365215	NM_004741.5(NOLC1):c.1718C>T (p.Ala573Val)	NOLC1 (A574V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361718	NM_004741.5(NOLC1):c.889G>C (p.Ala297Pro)	NOLC1 (A298P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346146	NM_004741.5(NOLC1):c.2012G>A (p.Arg671Gln)	NOLC1 (R671Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331099	NM_004741.5(NOLC1):c.772A>G (p.Thr258Ala)	NOLC1 (T258A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2330848	NM_004741.5(NOLC1):c.470C>T (p.Ala157Val)	NOLC1 (A158V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322506	NM_004741.5(NOLC1):c.164G>C (p.Ser55Thr)	NOLC1 (S55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259954	NM_004741.5(NOLC1):c.1013A>G (p.Lys338Arg)	NOLC1 (K339R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255291	NM_004741.5(NOLC1):c.23G>A (p.Arg8His)	LOC126861023, NOLC1 (R8H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237705	NM_004741.5(NOLC1):c.2003A>G (p.Lys668Arg)	NOLC1 (K669R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235736	NM_004741.5(NOLC1):c.731C>G (p.Pro244Arg)	NOLC1 (P245R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226446	NM_004741.5(NOLC1):c.2041A>G (p.Ser681Gly)	NOLC1 (S681G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224479	NM_004741.5(NOLC1):c.1861G>T (p.Ala621Ser)	NOLC1 (A631S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979286	GRCh37/hg19 10q24.32(chr10:103582453-103931269)x3	HPS6, NOLC1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 791307	NM_004741.5(NOLC1):c.1845G>A (p.Lys615=)	NOLC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784653	NM_004741.5(NOLC1):c.42G>A (p.Leu14=)	LOC126861023, NOLC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783580	NM_004741.5(NOLC1):c.1911A>G (p.Ser637=)	NOLC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777424	NM_004741.5(NOLC1):c.2048G>A (p.Arg683Gln)	NOLC1 (R693Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 773007	NM_004741.5(NOLC1):c.1235G>T (p.Gly412Val)	NOLC1 (G413V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 731779	NM_004741.5(NOLC1):c.1849-9C>T	NOLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728879	NM_004741.5(NOLC1):c.1570G>A (p.Asp524Asn)	NOLC1 (D534N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 723616	NM_004741.5(NOLC1):c.1008G>A (p.Glu336=)	NOLC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716415	NM_004741.5(NOLC1):c.1739C>T (p.Ser580Leu)	NOLC1 (S590L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716218	NM_004741.5(NOLC1):c.1099+10A>G	NOLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 712970	NM_004741.5(NOLC1):c.945G>A (p.Lys315=)	NOLC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563771	GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1	NT5C2, WBP1L +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 80