NCOR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 154979	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1	ADORA2B, CCDC144A +137 more	Copy number loss	See cases	GPathogenic
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	LOC130060335, LOC130060336 +217 more	Copy number loss	See cases	GPathogenic
Select item 153341	GRCh38/hg38 17p12-11.2(chr17:15784832-16860143)x3	ADORA2B, CCDC144A +64 more	Copy number gain	See cases	GUncertain significance
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 321983	NM_017775.4(TTC19):c.*1738T>C	NCOR1, TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321984	NM_017775.4(TTC19):c.*1791T>C	NCOR1, TTC19	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 321985	NM_017775.3(TTC19):c.*1886T>C	NCOR1, TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 2610718	NM_006311.4(NCOR1):c.7202T>C (p.Ile2401Thr)	NCOR1, TTC19 (I2401T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242519	NM_006311.4(NCOR1):c.7166C>T (p.Thr2389Ile)	NCOR1, TTC19 (T2286I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735033	NM_006311.4(NCOR1):c.7104G>A (p.Gly2368=)	NCOR1, TTC19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726341	NM_006311.4(NCOR1):c.7074A>G (p.Ser2358=)	TTC19, NCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3184619	NM_006311.4(NCOR1):c.7040C>T (p.Thr2347Met)	NCOR1, TTC19 (T2244M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302325	NM_006311.4(NCOR1):c.7027G>C (p.Gly2343Arg)	NCOR1, TTC19 (G2240R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298901	NM_006311.4(NCOR1):c.6976C>A (p.Leu2326Met)	NCOR1, TTC19 (L2223M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184614	NM_006311.4(NCOR1):c.6957A>G (p.Gly2319=)	NCOR1, TTC19	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2306699	NM_006311.4(NCOR1):c.6939C>A (p.Asp2313Glu)	NCOR1, TTC19 (D2313E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184607	NM_006311.4(NCOR1):c.6934G>A (p.Gly2312Arg)	NCOR1, TTC19 (G2312R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722211	NM_006311.4(NCOR1):c.6870G>A (p.Met2290Ile)	NCOR1, TTC19 (M2290I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2236275	NM_006311.4(NCOR1):c.6833A>G (p.Lys2278Arg)	NCOR1, TTC19 (K2175R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495258	NM_006311.4(NCOR1):c.6817G>A (p.Gly2273Arg)	NCOR1, TTC19 (G2170R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350035	NM_006311.4(NCOR1):c.6798_6800del (p.Ile2267del)	NCOR1, TTC19 (I2164del +1 more)	Deletion (inframe_deletion)	NCOR1-related disorder	GUncertain significance
Select item 2356539	NM_006311.4(NCOR1):c.6773C>G (p.Ala2258Gly)	NCOR1, TTC19 (A2258G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184597	NM_006311.4(NCOR1):c.6736T>G (p.Ser2246Ala)	NCOR1, TTC19 (S2246A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633641	NM_006311.4(NCOR1):c.6728C>T (p.Thr2243Met)	NCOR1, TTC19 (T2140M +1 more)	Single nucleotide variant (missense variant)	NCOR1-related disorder	GUncertain significance
Select item 3058498	NM_006311.4(NCOR1):c.6678G>A (p.Met2226Ile)	NCOR1 (M2123I +1 more)	Single nucleotide variant (missense variant)	NCOR1-related disorder	GLikely benign
Select item 771023	NM_006311.4(NCOR1):c.6544G>A (p.Ala2182Thr)	NCOR1 (A2079T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2490395	NM_006311.4(NCOR1):c.6517G>A (p.Ala2173Thr)	NCOR1 (A2173T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722887	NM_006311.4(NCOR1):c.6468G>A (p.Pro2156=)	NCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3050696	NM_006311.4(NCOR1):c.6441C>T (p.Tyr2147=)	NCOR1	Single nucleotide variant (synonymous variant)	NCOR1-related disorder	GBenign
Select item 784667	NM_006311.4(NCOR1):c.6396G>A (p.Arg2132=)	NCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2300913	NM_006311.4(NCOR1):c.6371T>C (p.Leu2124Pro)	NCOR1 (L2021P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672166	NM_006311.4(NCOR1):c.6332A>C (p.His2111Pro)	NCOR1 (H2008P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049019	NM_006311.4(NCOR1):c.6312A>G (p.Glu2104=)	NCOR1	Single nucleotide variant (synonymous variant)	NCOR1-related disorder	GLikely benign
Select item 3298895	NM_006311.4(NCOR1):c.6277G>A (p.Val2093Met)	NCOR1 (V1990M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478170	NM_006311.4(NCOR1):c.6269C>T (p.Ser2090Phe)	NCOR1 (S1987F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298898	NM_006311.4(NCOR1):c.6253C>T (p.Pro2085Ser)	NCOR1 (P1982S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465065	NM_006311.4(NCOR1):c.6209C>T (p.Ser2070Leu)	NCOR1 (S1967L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710458	NM_006311.4(NCOR1):c.6165C>A (p.Ile2055=)	NCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3184588	NM_006311.4(NCOR1):c.6143T>C (p.Leu2048Pro)	NCOR1 (L1945P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298896	NM_006311.4(NCOR1):c.6095C>T (p.Pro2032Leu)	NCOR1 (P1929L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600335	NM_006311.4(NCOR1):c.6094C>G (p.Pro2032Ala)	NCOR1 (P2032A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533131	NM_006311.4(NCOR1):c.6073T>C (p.Ser2025Pro)	NCOR1 (S1922P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184583	NM_006311.4(NCOR1):c.6053G>A (p.Arg2018Gln)	NCOR1 (R2018Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054351	NM_006311.4(NCOR1):c.6010+6T>C	NCOR1	Single nucleotide variant (intron variant)	NCOR1-related disorder	GLikely benign
Select item 3184576	NM_006311.4(NCOR1):c.6005C>T (p.Ala2002Val)	NCOR1 (A2002V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056111	NM_006311.4(NCOR1):c.5986GTT[1] (p.Val1997del)	NCOR1 (V1894del +1 more)	Microsatellite	NCOR1-related disorder	GBenign
Select item 712852	NM_006311.4(NCOR1):c.5970G>A (p.Gln1990=)	NCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2555745	NM_006311.4(NCOR1):c.5962A>C (p.Lys1988Gln)	NCOR1 (K1988Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213418	NM_006311.4(NCOR1):c.5954C>T (p.Pro1985Leu)	NCOR1 (P1985L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408754	NM_006311.4(NCOR1):c.5939G>A (p.Ser1980Asn)	NCOR1 (S1980N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184565	NM_006311.4(NCOR1):c.5840C>T (p.Ala1947Val)	NCOR1 (A1947V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2632202	NM_006311.4(NCOR1):c.5831A>T (p.Asp1944Val)	NCOR1 (D1944V)	Single nucleotide variant (missense variant +1 more)	NCOR1-related disorder	GUncertain significance
Select item 2261991	NM_006311.4(NCOR1):c.5717A>G (p.Asp1906Gly)	NCOR1 (D1906G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184556	NM_006311.4(NCOR1):c.5657C>G (p.Ala1886Gly)	NCOR1 (A1886G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184552	NM_006311.4(NCOR1):c.5632G>A (p.Val1878Ile)	NCOR1 (V1878I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 978139	NM_006311.4(NCOR1):c.5627G>C (p.Arg1876Thr)	NCOR1 (R1876T)	Single nucleotide variant (missense variant +1 more)	Autism +1 more	GUncertain significance
Select item 2340283	NM_006311.4(NCOR1):c.5611C>G (p.Leu1871Val)	NCOR1 (L1871V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184545	NM_006311.4(NCOR1):c.5407C>T (p.Pro1803Ser)	NCOR1 (P1819S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352993	NM_006311.4(NCOR1):c.5387+7C>T	NCOR1	Single nucleotide variant (intron variant)	NCOR1-related disorder	GLikely benign
Select item 2570308	NM_006311.4(NCOR1):c.5299A>G (p.Met1767Val)	NCOR1 (M1783V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723724	NM_006311.4(NCOR1):c.5208C>T (p.Leu1736=)	NCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2221939	NM_006311.4(NCOR1):c.5177G>A (p.Arg1726Gln)	NCOR1 (R1726Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 793499	NM_006311.4(NCOR1):c.5157G>A (p.Glu1719=)	NCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2242442	NM_006311.4(NCOR1):c.5152C>T (p.Arg1718Trp)	NCOR1 (R1734W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328635	NM_006311.4(NCOR1):c.5149G>A (p.Glu1717Lys)	NCOR1 (E1733K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298888	NM_006311.4(NCOR1):c.5128G>A (p.Ala1710Thr)	NCOR1 (A1710T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184532	NM_006311.4(NCOR1):c.5110A>G (p.Thr1704Ala)	NCOR1 (T1720A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351621	NM_006311.4(NCOR1):c.5086G>C (p.Ala1696Pro)	NCOR1 (A1712P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038963	NM_006311.4(NCOR1):c.5076G>A (p.Pro1692=)	NCOR1	Single nucleotide variant (synonymous variant)	NCOR1-related disorder	GLikely benign
Select item 3350077	NM_006311.4(NCOR1):c.4900G>A (p.Gly1634Arg)	NCOR1 (G1634R +1 more)	Single nucleotide variant (missense variant)	NCOR1-related disorder	GUncertain significance
Select item 2311268	NM_006311.4(NCOR1):c.4888G>A (p.Asp1630Asn)	NCOR1 (D1630N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777134	NM_006311.4(NCOR1):c.4863A>G (p.Gln1621=)	NCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3184517	NM_006311.4(NCOR1):c.4813G>A (p.Ala1605Thr)	NCOR1 (A1605T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298900	NM_006311.4(NCOR1):c.4772T>C (p.Leu1591Pro)	NCOR1 (L1591P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538809	NM_006311.4(NCOR1):c.4724A>G (p.His1575Arg)	NCOR1 (H1575R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221573	NM_006311.4(NCOR1):c.4707del (p.Pro1570fs)	NCOR1 (P1586fs +1 more)	Deletion (frameshift variant)	Familial cancer of breast	GUncertain significance
Select item 1679748	NM_006311.4(NCOR1):c.4681C>T (p.Arg1561Trp)	NCOR1 (R1561W +1 more)	Single nucleotide variant (missense variant)	NCOR1-related autism spectrum disorder	GUncertain significance
Select item 2348112	NM_006311.4(NCOR1):c.4592C>T (p.Ala1531Val)	NCOR1 (A1531V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184508	NM_006311.4(NCOR1):c.4570A>T (p.Thr1524Ser)	NCOR1 (T1524S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031103	NM_006311.4(NCOR1):c.4505C>T (p.Thr1502Ile)	NCOR1 (T1502I +1 more)	Single nucleotide variant (missense variant)	NCOR1-related disorder	GUncertain significance
Select item 3298897	NM_006311.4(NCOR1):c.4493T>C (p.Met1498Thr)	NCOR1 (M1514T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229431	NM_006311.4(NCOR1):c.4472C>T (p.Thr1491Ile)	NCOR1 (T1491I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273151	NM_006311.4(NCOR1):c.4397C>T (p.Ala1466Val)	NCOR1 (A1466V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301854	NM_006311.4(NCOR1):c.4355T>C (p.Val1452Ala)	NCOR1 (V1452A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747294	NM_006311.4(NCOR1):c.4329C>T (p.Thr1443=)	NCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2214070	NM_006311.4(NCOR1):c.4244G>A (p.Arg1415His)	NCOR1 (R1415H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777715	NM_006311.4(NCOR1):c.4218A>C (p.Leu1406Phe)	NCOR1 (L1406F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1677295	NM_006311.4(NCOR1):c.4202A>G (p.His1401Arg)	NCOR1 (H1401R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298899	NM_006311.4(NCOR1):c.4169T>C (p.Phe1390Ser)	NCOR1 (F1406S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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