29373[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155179	GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3	ATP6V0D2, CA1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 147729	GRCh38/hg38 8q21.2(chr8:84246857-85606287)x1	CA1, CA13 +25 more	Copy number loss	See cases	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 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 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 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 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 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 2085253	NM_033402.5(LRRCC1):c.105-3T>C	LRRCC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 266077	NM_033402.5(LRRCC1):c.105-1G>C	LRRCC1	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
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 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 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 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 1597582	NM_033402.5(LRRCC1):c.207T>A (p.His69Gln)	LRRCC1 (H69Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
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 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 3291785	NM_033402.5(LRRCC1):c.256C>G (p.Leu86Val)	LRRCC1 (L86V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3291783	NM_033402.5(LRRCC1):c.257T>C (p.Leu86Pro)	LRRCC1 (L86P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1571909	NM_033402.5(LRRCC1):c.269G>A (p.Cys90Tyr)	LRRCC1 (C90Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
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 1669647	NM_033402.5(LRRCC1):c.311-3del	LRRCC1	Deletion (intron variant)	not provided	GBenign
Select item 2004851	NM_033402.5(LRRCC1):c.311-10T>G	LRRCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3291786	NM_033402.5(LRRCC1):c.386C>T (p.Pro129Leu)	LRRCC1 (P129L +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 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 2012483	NM_033402.5(LRRCC1):c.535C>A (p.Arg179=)	LRRCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 1524096	NM_033402.5(LRRCC1):c.592G>A (p.Asp198Asn)	LRRCC1 (D198N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1599548	NM_033402.5(LRRCC1):c.628A>G (p.Thr210Ala)	LRRCC1 (T117A +2 more)	Single nucleotide variant (missense variant +1 more)	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 1987208	NM_033402.5(LRRCC1):c.720+22dup	LRRCC1	Duplication (intron variant)	not provided	GBenign
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 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 2737717	NM_033402.5(LRRCC1):c.777A>G (p.Glu259=)	LRRCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 1466361	NM_033402.5(LRRCC1):c.880G>A (p.Glu294Lys)	LRRCC1 (E201K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1516871	NM_033402.5(LRRCC1):c.952G>A (p.Val318Ile)	LRRCC1 (V176I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1393756	NM_033402.5(LRRCC1):c.1000G>C (p.Glu334Gln)	LRRCC1 (E334Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2857646	NM_033402.5(LRRCC1):c.1124+5T>C	LRRCC1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1589115	NM_033402.5(LRRCC1):c.1200A>G (p.Leu400=)	LRRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1434445	NM_033402.5(LRRCC1):c.1221G>T (p.Lys407Asn)	LRRCC1 (K265N +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 1601127	NM_033402.5(LRRCC1):c.1272+18A>G	LRRCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 715008	NM_033402.5(LRRCC1):c.1301G>A (p.Arg434Lys)	LRRCC1 (R341K +4 more)	Single nucleotide variant (missense 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 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 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 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 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 3019366	NM_033402.5(LRRCC1):c.1467C>T (p.Leu489=)	LRRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1973085	NM_033402.5(LRRCC1):c.1542A>G (p.Gln514=)	LRRCC1	Single nucleotide variant (synonymous 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 1926027	NM_033402.5(LRRCC1):c.1581A>G (p.Thr527=)	LRRCC1	Single nucleotide variant (synonymous variant)	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 721153	NM_033402.5(LRRCC1):c.1591A>G (p.Met531Val)	LRRCC1 (M389V +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1427652	NM_033402.5(LRRCC1):c.1626+1G>A	LRRCC1	Single nucleotide variant (splice donor variant)	not provided	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 2052475	NM_033402.5(LRRCC1):c.1699C>T (p.Leu567Phe)	LRRCC1 (L268F +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 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 1532349	NM_033402.5(LRRCC1):c.1839A>C (p.Lys613Asn)	LRRCC1 (K234N +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1518914	NM_033402.5(LRRCC1):c.1931G>A (p.Arg644His)	LRRCC1 (R345H +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 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 1662717	NM_033402.5(LRRCC1):c.2155-13T>G	LRRCC1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 3291784	NM_033402.5(LRRCC1):c.2278T>C (p.Phe760Leu)	LRRCC1 (F618L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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

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