R3HCC1L[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	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
Select item 2602123	NM_001351015.2(R3HCC1L):c.5A>C (p.Gln2Pro)	R3HCC1L (Q2P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150492	NM_001351015.2(R3HCC1L):c.49A>G (p.Met17Val)	R3HCC1L (M17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284665	NM_001351015.2(R3HCC1L):c.74G>A (p.Arg25His)	R3HCC1L (R25H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259025	NM_001351015.2(R3HCC1L):c.156A>C (p.Lys52Asn)	R3HCC1L (K52N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243885	NM_001351015.2(R3HCC1L):c.166C>G (p.Leu56Val)	R3HCC1L (L56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150483	NM_001351015.2(R3HCC1L):c.167T>C (p.Leu56Pro)	R3HCC1L (L56P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150488	NM_001351015.2(R3HCC1L):c.224C>G (p.Pro75Arg)	R3HCC1L (P75R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394142	NM_001351015.2(R3HCC1L):c.281T>C (p.Met94Thr)	R3HCC1L (M94T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150489	NM_001351015.2(R3HCC1L):c.311T>A (p.Val104Asp)	R3HCC1L (V104D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337521	NM_001351015.2(R3HCC1L):c.326G>T (p.Gly109Val)	R3HCC1L (G109V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364073	NM_001351015.2(R3HCC1L):c.391A>G (p.Ile131Val)	R3HCC1L (I131V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465877	NM_001351015.2(R3HCC1L):c.458C>T (p.Thr153Met)	R3HCC1L (T153M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622358	NM_001351015.2(R3HCC1L):c.467C>T (p.Thr156Ile)	R3HCC1L (T156I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254886	NM_001351015.2(R3HCC1L):c.479G>T (p.Arg160Met)	R3HCC1L (R160M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150493	NM_001351015.2(R3HCC1L):c.570G>T (p.Arg190Ser)	R3HCC1L (R190S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150494	NM_001351015.2(R3HCC1L):c.571C>T (p.His191Tyr)	R3HCC1L (H191Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588673	NM_001351015.2(R3HCC1L):c.589G>A (p.Ala197Thr)	R3HCC1L (A197T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2408524	NM_001351015.2(R3HCC1L):c.599A>G (p.Asp200Gly)	R3HCC1L (D200G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542176	NM_001351015.2(R3HCC1L):c.626C>G (p.Thr209Ser)	R3HCC1L (T209S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207073	NM_001351015.2(R3HCC1L):c.707C>G (p.Pro236Arg)	R3HCC1L (P236R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150495	NM_001351015.2(R3HCC1L):c.779G>A (p.Ser260Asn)	R3HCC1L (S260N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217814	NM_001351015.2(R3HCC1L):c.799A>T (p.Thr267Ser)	R3HCC1L (T267S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267797	NM_001351015.2(R3HCC1L):c.808C>A (p.Pro270Thr)	R3HCC1L (P270T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150496	NM_001351015.2(R3HCC1L):c.814A>G (p.Ser272Gly)	R3HCC1L (S272G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369527	NM_001351015.2(R3HCC1L):c.860A>G (p.Glu287Gly)	R3HCC1L (E287G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507765	NM_001351015.2(R3HCC1L):c.881A>G (p.Asn294Ser)	R3HCC1L (N294S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2257013	NM_001351015.2(R3HCC1L):c.905A>G (p.Gln302Arg)	R3HCC1L (Q302R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455217	NM_001351015.2(R3HCC1L):c.914C>A (p.Thr305Lys)	R3HCC1L (T305K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240121	NM_001351015.2(R3HCC1L):c.970A>G (p.Thr324Ala)	R3HCC1L (T324A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150477	NM_001351015.2(R3HCC1L):c.1022A>T (p.Asp341Val)	R3HCC1L (D341V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150478	NM_001351015.2(R3HCC1L):c.1079A>G (p.His360Arg)	R3HCC1L (H360R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552162	NM_001351015.2(R3HCC1L):c.1080T>G (p.His360Gln)	R3HCC1L (H360Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150479	NM_001351015.2(R3HCC1L):c.1084G>C (p.Asp362His)	R3HCC1L (D362H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220352	NM_001351015.2(R3HCC1L):c.1105G>A (p.Gly369Ser)	R3HCC1L (G369S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150480	NM_001351015.2(R3HCC1L):c.1171G>A (p.Val391Ile)	R3HCC1L (V391I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292103	NM_001351015.2(R3HCC1L):c.1244T>C (p.Phe415Ser)	R3HCC1L (F415S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531915	NM_001351015.2(R3HCC1L):c.1261G>C (p.Asp421His)	R3HCC1L (D421H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532747	NM_001351015.2(R3HCC1L):c.1298A>T (p.Asp433Val)	R3HCC1L (D433V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323504	NM_001351015.2(R3HCC1L):c.1324G>C (p.Ala442Pro)	R3HCC1L (A442P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316300	NM_001351015.2(R3HCC1L):c.1334A>G (p.Asp445Gly)	R3HCC1L (D445G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2353055	NM_001351015.2(R3HCC1L):c.1336A>T (p.Ile446Phe)	R3HCC1L (I446F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283514	NM_001351015.2(R3HCC1L):c.1381A>C (p.Lys461Gln)	R3HCC1L (K461Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278878	NM_001351015.2(R3HCC1L):c.1403A>G (p.Asp468Gly)	R3HCC1L (D468G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381183	NM_001351015.2(R3HCC1L):c.1420C>G (p.Pro474Ala)	R3HCC1L (P474A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515216	NM_001351015.2(R3HCC1L):c.1452C>G (p.Asn484Lys)	R3HCC1L (N484K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398682	NM_001351015.2(R3HCC1L):c.1477A>G (p.Met493Val)	R3HCC1L (M493V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150481	NM_001351015.2(R3HCC1L):c.1513G>A (p.Val505Met)	R3HCC1L (V505M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2410076	NM_001351015.2(R3HCC1L):c.1570A>G (p.Thr524Ala)	R3HCC1L (T524A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396059	NM_001351015.2(R3HCC1L):c.1576G>A (p.Glu526Lys)	R3HCC1L (E526K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3150482	NM_001351015.2(R3HCC1L):c.1617A>G (p.Ile539Met)	R3HCC1L (I539M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458961	NM_001351015.2(R3HCC1L):c.1619A>C (p.Glu540Ala)	R3HCC1L (E540A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383048	NM_001351015.2(R3HCC1L):c.1702G>C (p.Glu568Gln)	R3HCC1L (E568Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150484	NM_001351015.2(R3HCC1L):c.1703A>C (p.Glu568Ala)	R3HCC1L (E568A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376444	NM_001351015.2(R3HCC1L):c.1715C>T (p.Ala572Val)	R3HCC1L (A572V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150485	NM_001351015.2(R3HCC1L):c.1771C>T (p.Arg591Cys)	R3HCC1L (R591C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412365	NM_001351015.2(R3HCC1L):c.1772G>A (p.Arg591His)	R3HCC1L (R591H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640741	NM_001351015.2(R3HCC1L):c.1785+1410G>A	R3HCC1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3150486	NM_001351015.2(R3HCC1L):c.1841A>G (p.Tyr614Cys)	R3HCC1L (Y20C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284956	NM_001351015.2(R3HCC1L):c.1890T>A (p.His630Gln)	R3HCC1L (H36Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538435	NM_001351015.2(R3HCC1L):c.1894A>G (p.Ile632Val)	R3HCC1L (I632V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228465	NM_001351015.2(R3HCC1L):c.1936C>T (p.Leu646Phe)	R3HCC1L (L52F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517155	NM_001351015.2(R3HCC1L):c.1942C>T (p.Arg648Trp)	R3HCC1L (R662W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333818	NM_001351015.2(R3HCC1L):c.2036G>A (p.Arg679His)	R3HCC1L (R693H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465868	NM_001351015.2(R3HCC1L):c.2095A>G (p.Arg699Gly)	R3HCC1L (R699G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277478	NM_001351015.2(R3HCC1L):c.2120C>A (p.Ala707Asp)	R3HCC1L (A113D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150487	NM_001351015.2(R3HCC1L):c.2131T>A (p.Phe711Ile)	R3HCC1L (F117I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290242	NM_001351015.2(R3HCC1L):c.2233C>G (p.Arg745Gly)	R3HCC1L (R759G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360658	NM_001351015.2(R3HCC1L):c.2279G>A (p.Arg760Gln)	R3HCC1L (R760Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510725	NM_001351015.2(R3HCC1L):c.2296C>T (p.Arg766Trp)	R3HCC1L (R172W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370691	NM_001351015.2(R3HCC1L):c.2297G>A (p.Arg766Gln)	R3HCC1L (R172Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
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 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684616	GRCh37/hg19 10q24.2(chr10:99719637-99935411)x3	CRTAC1, R3HCC1L	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
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 563729	GRCh37/hg19 10q24.2(chr10:99923079-100191207)x1	PYROXD2, LOXL4 +2 more	Copy number loss	not provided	GUncertain significance
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 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	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

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Items: 89