ClinVar for Gene (Select 85444) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 147

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121030	NM_033402.5(LRRCC1):c.805G>A (p.Val269Met)	LRRCC1 (V269M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121029	NM_033402.5(LRRCC1):c.572T>C (p.Leu191Ser)	LRRCC1 (L191S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121028	NM_033402.5(LRRCC1):c.556G>T (p.Val186Phe)	LRRCC1 (V186F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121027	NM_033402.5(LRRCC1):c.2545G>A (p.Glu849Lys)	LRRCC1 (E707K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121026	NM_033402.5(LRRCC1):c.252C>G (p.Asn84Lys)	LRRCC1 (N84K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3121025	NM_033402.5(LRRCC1):c.2267A>G (p.Glu756Gly)	LRRCC1 (E377G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121024	NM_033402.5(LRRCC1):c.2258C>A (p.Ala753Glu)	LRRCC1 (A374E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121023	NM_033402.5(LRRCC1):c.2236G>A (p.Val746Ile)	LRRCC1 (V653I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121022	NM_033402.5(LRRCC1):c.1979G>C (p.Gly660Ala)	LRRCC1 (G361A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121021	NM_033402.5(LRRCC1):c.1721C>T (p.Ala574Val)	LRRCC1 (A275V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121020	NM_033402.5(LRRCC1):c.1703A>G (p.His568Arg)	LRRCC1 (H189R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121019	NM_033402.5(LRRCC1):c.1678A>G (p.Ile560Val)	LRRCC1 (I181V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121018	NM_033402.5(LRRCC1):c.1533A>C (p.Lys511Asn)	LRRCC1 (K132N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121017	NM_033402.5(LRRCC1):c.1384G>C (p.Glu462Gln)	LRRCC1 (E163Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121016	NM_033402.5(LRRCC1):c.1232T>A (p.Ile411Asn)	LRRCC1 (I411N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121015	NM_033402.5(LRRCC1):c.1142A>G (p.Lys381Arg)	LRRCC1 (K2R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063037	GRCh37/hg19 8q21.2-21.3(chr8:85339090-89534521)x3	ATP6V0D2, CA1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3022187	NM_033402.5(LRRCC1):c.2703-14A>G	LRRCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3019366	NM_033402.5(LRRCC1):c.1467C>T (p.Leu489=)	LRRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002230	NM_033402.5(LRRCC1):c.2841-14_2841-13del	LRRCC1	Deletion (intron variant)	not provided	GLikely benign
Select item 2992194	NM_033402.5(LRRCC1):c.1572C>T (p.Leu524=)	LRRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857646	NM_033402.5(LRRCC1):c.1124+5T>C	LRRCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2763595	NM_033402.5(LRRCC1):c.1330G>A (p.Glu444Lys)	LRRCC1 (E302K +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2757814	NM_033402.5(LRRCC1):c.2616G>A (p.Leu872=)	LRRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737717	NM_033402.5(LRRCC1):c.777A>G (p.Glu259=)	LRRCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2731624	NM_033402.5(LRRCC1):c.1587A>G (p.Glu529=)	LRRCC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2723567	NM_033402.5(LRRCC1):c.665G>A (p.Gly222Asp)	LRRCC1 (G80D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2721583	NM_033402.5(LRRCC1):c.2667G>A (p.Lys889=)	LRRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721126	NM_033402.5(LRRCC1):c.2340A>G (p.Leu780=)	LRRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717765	NM_033402.5(LRRCC1):c.2282G>C (p.Gly761Ala)	LRRCC1 (G382A +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2713696	NM_033402.5(LRRCC1):c.184G>T (p.Asp62Tyr)	LRRCC1 (D62Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2694918	NM_033402.5(LRRCC1):c.2329+6A>T	LRRCC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2618101	NM_033402.5(LRRCC1):c.1854T>G (p.His618Gln)	LRRCC1 (H476Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611635	NM_033402.5(LRRCC1):c.2501A>G (p.Gln834Arg)	LRRCC1 (Q834R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607780	NM_033402.5(LRRCC1):c.2602G>A (p.Val868Ile)	LRRCC1 (V489I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595145	NM_033402.5(LRRCC1):c.517G>T (p.Asp173Tyr)	LRRCC1 (D80Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2587952	NM_033402.5(LRRCC1):c.2841G>A (p.Lys947=)	LRRCC1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2560855	NM_033402.5(LRRCC1):c.2033C>T (p.Ala678Val)	LRRCC1 (A678V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549236	NM_033402.5(LRRCC1):c.190A>G (p.Ile64Val)	LRRCC1 (I64V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2542616	NM_033402.5(LRRCC1):c.3056A>C (p.Lys1019Thr)	LRRCC1 (K926T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530368	NM_033402.5(LRRCC1):c.965A>G (p.Asp322Gly)	LRRCC1 (D23G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529025	NM_033402.5(LRRCC1):c.284C>G (p.Ser95Cys)	LRRCC1 (S95C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2526120	NM_033402.5(LRRCC1):c.773T>C (p.Leu258Ser)	LRRCC1 (L165S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496462	NM_033402.5(LRRCC1):c.562C>A (p.Leu188Ile)	LRRCC1 (L188I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457062	NM_033402.5(LRRCC1):c.812C>T (p.Thr271Met)	LRRCC1 (T271M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426512	NC_000008.10:g.(?_86053597)_(87755855_?)dup	CA3, CA2 +12 more	Duplication	not provided	GUncertain significance
Select item 2394349	NM_033402.5(LRRCC1):c.1528G>C (p.Ala510Pro)	LRRCC1 (A211P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384570	NM_033402.5(LRRCC1):c.427C>T (p.His143Tyr)	LRRCC1 (H50Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378374	NM_033402.5(LRRCC1):c.139G>T (p.Ala47Ser)	LRRCC1 (A47S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2370707	NM_033402.5(LRRCC1):c.836C>A (p.Ser279Tyr)	LRRCC1 (S137Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342381	NM_033402.5(LRRCC1):c.1403C>T (p.Ala468Val)	LRRCC1 (A375V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316087	NM_033402.5(LRRCC1):c.2313T>A (p.His771Gln)	LRRCC1 (H678Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315541	NM_033402.5(LRRCC1):c.511G>T (p.Asp171Tyr)	LRRCC1 (D15Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311554	NM_033402.5(LRRCC1):c.1405C>G (p.Leu469Val)	LRRCC1 (L170V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304599	NM_033402.5(LRRCC1):c.1621G>A (p.Ala541Thr)	LRRCC1 (A242T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298565	NM_033402.5(LRRCC1):c.1345G>C (p.Asp449His)	LRRCC1 (D150H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292308	NM_033402.5(LRRCC1):c.11C>T (p.Ala4Val)	LRRCC1 (A4V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2285949	NM_033402.5(LRRCC1):c.2727T>G (p.Asp909Glu)	LRRCC1 (D816E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277719	NM_033402.5(LRRCC1):c.245G>A (p.Gly82Glu)	LRRCC1 (G82E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2270838	NM_033402.5(LRRCC1):c.67T>A (p.Cys23Ser)	LOC130000685, LRRCC1 (C23S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2236737	NM_033402.5(LRRCC1):c.439A>G (p.Ile147Val)	LRRCC1 (I147V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233223	NM_033402.5(LRRCC1):c.2320G>T (p.Ala774Ser)	LRRCC1 (A681S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217005	NM_033402.5(LRRCC1):c.3038C>T (p.Thr1013Ile)	LRRCC1 (T920I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207093	NM_033402.5(LRRCC1):c.392A>G (p.His131Arg)	LRRCC1 (H38R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2173584	NM_033402.5(LRRCC1):c.2327A>G (p.Gln776Arg)	LRRCC1 (Q776R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153518	NM_033402.5(LRRCC1):c.60C>T (p.Asp20=)	LOC130000685, LRRCC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2144038	NM_033402.5(LRRCC1):c.46A>G (p.Asn16Asp)	LRRCC1 (N16D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2114234	NM_033402.5(LRRCC1):c.2480G>C (p.Arg827Thr)	LRRCC1 (R448T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085253	NM_033402.5(LRRCC1):c.105-3T>C	LRRCC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2060948	NM_033402.5(LRRCC1):c.750A>G (p.Ala250=)	LRRCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2059403	NM_033402.5(LRRCC1):c.188A>G (p.His63Arg)	LRRCC1 (H63R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2052513	NM_033402.5(LRRCC1):c.3099A>G (p.Ter1033Trp)	LRRCC1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2052475	NM_033402.5(LRRCC1):c.1699C>T (p.Leu567Phe)	LRRCC1 (L268F +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2052165	NM_033402.5(LRRCC1):c.409C>T (p.Leu137Phe)	LRRCC1 (L44F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2047583	NM_033402.5(LRRCC1):c.2362G>A (p.Glu788Lys)	LRRCC1 (E409K +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2045462	NM_033402.5(LRRCC1):c.2372T>C (p.Ile791Thr)	LRRCC1 (I791T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043611	NM_033402.5(LRRCC1):c.536G>A (p.Arg179Gln)	LRRCC1 (D9N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2041360	NM_033402.5(LRRCC1):c.951C>T (p.Asn317=)	LRRCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2012483	NM_033402.5(LRRCC1):c.535C>A (p.Arg179=)	LRRCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2004851	NM_033402.5(LRRCC1):c.311-10T>G	LRRCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987208	NM_033402.5(LRRCC1):c.720+22dup	LRRCC1	Duplication (intron variant)	not provided	GBenign
Select item 1973085	NM_033402.5(LRRCC1):c.1542A>G (p.Gln514=)	LRRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940550	NM_033402.5(LRRCC1):c.2726A>T (p.Asp909Val)	LRRCC1 (D530V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926027	NM_033402.5(LRRCC1):c.1581A>G (p.Thr527=)	LRRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925503	NM_033402.5(LRRCC1):c.20TGG[3] (p.Val8_Ala9insVal)	LRRCC1	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1809213	GRCh37/hg19 8q21.13-21.2(chr8:83705217-86441492)x1	CA1, CA13 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1669647	NM_033402.5(LRRCC1):c.311-3del	LRRCC1	Deletion (intron variant)	not provided	GBenign
Select item 1662717	NM_033402.5(LRRCC1):c.2155-13T>G	LRRCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1647408	NM_033402.5(LRRCC1):c.2339T>C (p.Leu780Pro)	LRRCC1 (L401P +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1602793	NM_033402.5(LRRCC1):c.3060A>G (p.Gln1020=)	LRRCC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1601541	NM_033402.5(LRRCC1):c.14C>A (p.Ala5Glu)	LRRCC1 (A5E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1601127	NM_033402.5(LRRCC1):c.1272+18A>G	LRRCC1	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2