NCOA3[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 145874	GRCh38/hg38 20q13.12(chr20:47390946-47514274)x3	LINC01754, LOC116286208 +19 more	Copy number gain	See cases	GLikely benign
Select item 2409531	NM_181659.3(NCOA3):c.32T>C (p.Leu11Pro)	NCOA3 (L11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298836	NM_181659.3(NCOA3):c.52C>T (p.Arg18Cys)	NCOA3 (R18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385688	NM_181659.3(NCOA3):c.106C>T (p.Arg36Trp)	NCOA3 (R36W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3183783	NM_181659.3(NCOA3):c.272A>T (p.Asn91Ile)	NCOA3 (N91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183798	NM_181659.3(NCOA3):c.328A>G (p.Lys110Glu)	NCOA3 (K110E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535170	NM_181659.3(NCOA3):c.419A>G (p.Asn140Ser)	NCOA3 (N140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294736	NM_181659.3(NCOA3):c.457G>C (p.Val153Leu)	NCOA3 (V153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286648	NM_181659.3(NCOA3):c.476A>G (p.Asn159Ser)	NCOA3 (N159S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469882	NM_181659.3(NCOA3):c.560C>A (p.Thr187Asn)	NCOA3 (T187N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183862	NM_181659.3(NCOA3):c.659G>T (p.Arg220Ile)	NCOA3 (R220I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521103	NM_181659.3(NCOA3):c.751C>T (p.Arg251Cys)	NCOA3 (R251C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183864	NM_181659.3(NCOA3):c.789C>A (p.Asn263Lys)	NCOA3 (N263K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510581	NM_181659.3(NCOA3):c.836A>G (p.Asn279Ser)	NCOA3 (N279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183866	NM_181659.3(NCOA3):c.949C>T (p.Arg317Cys)	NCOA3 (R317C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298843	NM_181659.3(NCOA3):c.961G>C (p.Glu321Gln)	NCOA3 (E321Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377421	NM_181659.3(NCOA3):c.973A>G (p.Asn325Asp)	NCOA3 (N325D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183710	NM_181659.3(NCOA3):c.1001G>A (p.Arg334Gln)	NCOA3 (R334Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183712	NM_181659.3(NCOA3):c.1055T>G (p.Phe352Cys)	NCOA3 (F362C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298837	NM_181659.3(NCOA3):c.1056C>G (p.Phe352Leu)	NCOA3 (F362L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319419	NM_181659.3(NCOA3):c.1166C>T (p.Pro389Leu)	NCOA3 (P399L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298846	NM_181659.3(NCOA3):c.1205G>C (p.Ser402Thr)	NCOA3 (S402T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298834	NM_181659.3(NCOA3):c.1246G>A (p.Ala416Thr)	NCOA3 (A416T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2222049	NM_181659.3(NCOA3):c.1344G>A (p.Met448Ile)	NCOA3 (M448I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409822	NM_181659.3(NCOA3):c.1390A>G (p.Ser464Gly)	NCOA3 (S464G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211404	NM_181659.3(NCOA3):c.1403A>G (p.His468Arg)	NCOA3 (H468R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301254	NM_181659.3(NCOA3):c.1417C>T (p.Leu473Phe)	NCOA3 (L473F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399903	NM_181659.3(NCOA3):c.1424C>G (p.Pro475Arg)	NCOA3 (P475R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183737	NM_181659.3(NCOA3):c.1588A>C (p.Ser530Arg)	NCOA3 (S540R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227342	NM_181659.3(NCOA3):c.1654C>T (p.Pro552Ser)	NCOA3 (P562S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238584	NM_181659.3(NCOA3):c.1670C>T (p.Thr557Ile)	NCOA3 (T557I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775436	NM_181659.3(NCOA3):c.1675C>T (p.Pro559Ser)	NCOA3 (P569S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3183747	NM_181659.3(NCOA3):c.1685T>C (p.Val562Ala)	NCOA3 (V562A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298845	NM_181659.3(NCOA3):c.1852C>T (p.His618Tyr)	NCOA3 (H618Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183749	NM_181659.3(NCOA3):c.1895G>A (p.Arg632Gln)	NCOA3 (R642Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183755	NM_181659.3(NCOA3):c.1942G>C (p.Glu648Gln)	NCOA3 (E648Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527688	NM_181659.3(NCOA3):c.2032T>G (p.Leu678Val)	NCOA3 (L688V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298839	NM_181659.3(NCOA3):c.2239C>A (p.Pro747Thr)	NCOA3 (P747T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316563	NM_181659.3(NCOA3):c.2255C>T (p.Ser752Phe)	NCOA3 (S762F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398226	NM_181659.3(NCOA3):c.2324C>G (p.Pro775Arg)	NCOA3 (P785R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473665	NM_181659.3(NCOA3):c.2533G>C (p.Val845Leu)	NCOA3 (V845L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183771	NM_181659.3(NCOA3):c.2588C>G (p.Ser863Cys)	NCOA3 (S873C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404131	NM_181659.3(NCOA3):c.2590G>A (p.Val864Ile)	NCOA3 (V864I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183775	NM_181659.3(NCOA3):c.2594G>A (p.Gly865Asp)	NCOA3 (G865D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183780	NM_181659.3(NCOA3):c.2621G>A (p.Ser874Asn)	NCOA3 (S874N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1185585	NM_181659.3(NCOA3):c.2810C>G (p.Ser937Cys)	NCOA3 (S932C +1 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment	GPathogenic
Select item 2473405	NM_181659.3(NCOA3):c.2875C>G (p.Pro959Ala)	NCOA3 (P954A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336180	NM_181659.3(NCOA3):c.2926C>G (p.Gln976Glu)	NCOA3 (Q971E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371959	NM_181659.3(NCOA3):c.3000A>T (p.Gln1000His)	NCOA3 (Q1000H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652375	NM_181659.3(NCOA3):c.3016C>T (p.Gln1006Ter)	NCOA3 (Q1001* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 739965	NM_181659.3(NCOA3):c.3132G>A (p.Leu1044=)	NCOA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2331224	NM_181659.3(NCOA3):c.3144T>G (p.Ser1048Arg)	NCOA3 (S1048R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518828	NM_181659.3(NCOA3):c.3248A>G (p.Asn1083Ser)	NCOA3 (N1078S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606753	NM_181659.3(NCOA3):c.3341C>G (p.Thr1114Arg)	NCOA3 (T1109R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251373	NM_181659.3(NCOA3):c.3359C>T (p.Pro1120Leu)	NCOA3 (P1115L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298838	NM_181659.3(NCOA3):c.3364A>G (p.Met1122Val)	NCOA3 (M1122V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347522	NM_181659.3(NCOA3):c.3374G>A (p.Gly1125Asp)	NCOA3 (G1125D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606667	NM_181659.3(NCOA3):c.3385C>G (p.Gln1129Glu)	NCOA3 (Q1129E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183809	NM_181659.3(NCOA3):c.3412A>G (p.Met1138Val)	NCOA3 (M1133V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619364	NM_181659.3(NCOA3):c.3425T>G (p.Met1142Arg)	NCOA3 (M1137R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183816	NM_181659.3(NCOA3):c.3467G>A (p.Arg1156Gln)	NCOA3 (R1156Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396784	NM_181659.3(NCOA3):c.3487C>T (p.Arg1163Trp)	NCOA3 (R1158W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265303	NM_181659.3(NCOA3):c.3500C>G (p.Pro1167Arg)	NCOA3 (P1167R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298842	NM_181659.3(NCOA3):c.3543G>C (p.Gln1181His)	NCOA3 (Q1176H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460511	NM_181659.3(NCOA3):c.3592C>G (p.Pro1198Ala)	NCOA3 (P1193A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274042	NM_181659.3(NCOA3):c.3607G>A (p.Ala1203Thr)	NCOA3 (A1198T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298847	NM_181659.3(NCOA3):c.3653A>G (p.Gln1218Arg)	NCOA3 (Q1214R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183827	NM_181659.3(NCOA3):c.3716G>A (p.Arg1239Gln)	NCOA3 (R1230Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2799616	NM_181659.3(NCOA3):c.3741GCA[4] (p.Gln1274_Gln1276del)	LOC109621227, NCOA3	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2652376	NM_181659.3(NCOA3):c.3759G>A (p.Gln1253=)	LOC109621227, NCOA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652377	NM_181659.3(NCOA3):c.3786G>A (p.Gln1262=)	LOC109621227, NCOA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770669	NM_181659.3(NCOA3):c.3792A>G (p.Gln1264=)	LOC109621227, NCOA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3183830	NM_181659.3(NCOA3):c.3830C>G (p.Thr1277Ser)	NCOA3 (T1276S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298844	NM_181659.3(NCOA3):c.3869C>T (p.Pro1290Leu)	NCOA3 (P1289L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462244	NM_181659.3(NCOA3):c.3892G>A (p.Gly1298Arg)	NCOA3 (G1297R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298840	NM_181659.3(NCOA3):c.3935A>C (p.Gln1312Pro)	NCOA3 (Q1311P +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3298835	NM_181659.3(NCOA3):c.3959A>C (p.Gln1320Pro)	NCOA3 (Q1320P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183842	NM_181659.3(NCOA3):c.3998A>T (p.Asn1333Ile)	NCOA3 (N1329I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523067	NM_181659.3(NCOA3):c.3998A>G (p.Asn1333Ser)	NCOA3 (N1329S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351024	NM_181659.3(NCOA3):c.4028C>T (p.Ser1343Phe)	NCOA3 (S1339F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183847	NM_181659.3(NCOA3):c.4053G>A (p.Pro1351=)	NCOA3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1809152	GRCh37/hg19 20q13.12-13.13(chr20:46203730-46521403)x3	NCOA3, SULF2	Copy number gain	not provided	GUncertain significance
Select item 1341001	GRCh37/hg19 20q13.12-13.13(chr20:46147529-46438075)x3	NCOA3, SULF2	Copy number gain	not provided	GUncertain significance
Select item 1340350	GRCh37/hg19 20q13.12(chr20:45626379-46257019)x3	EYA2, NCOA3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 91