NCOA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 3357884	NM_003743.5(NCOA1):c.-7T>C	NCOA1	Single nucleotide variant (5 prime UTR variant)	NCOA1-related disorder	GLikely benign
Select item 3353797	NM_003743.5(NCOA1):c.6T>C (p.Ser2=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3351115	NM_003743.5(NCOA1):c.13G>A (p.Gly5Arg)	NCOA1 (G5R)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2628431	NM_003743.5(NCOA1):c.17A>G (p.Asp6Gly)	NCOA1 (D6G)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3052454	NM_003743.5(NCOA1):c.27C>T (p.Ser9=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3051391	NM_003743.5(NCOA1):c.27C>A (p.Ser9=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3356025	NM_003743.5(NCOA1):c.28G>A (p.Asp10Asn)	NCOA1 (D10N)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3357173	NM_003743.5(NCOA1):c.31C>T (p.Pro11Ser)	NCOA1 (P11S)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3347966	NM_003743.5(NCOA1):c.51T>G (p.His17Gln)	NCOA1 (H17Q)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3353845	NM_003743.5(NCOA1):c.66G>A (p.Ser22=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 2634123	NM_003743.5(NCOA1):c.76A>C (p.Thr26Pro)	NCOA1 (T26P)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3347486	NM_003743.5(NCOA1):c.82G>C (p.Ala28Pro)	NCOA1 (A28P)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3354522	NM_003743.5(NCOA1):c.89+3A>G	NCOA1	Single nucleotide variant (intron variant)	NCOA1-related disorder	GLikely benign
Select item 3036599	NM_003743.5(NCOA1):c.89+4G>A	NCOA1	Single nucleotide variant (intron variant)	NCOA1-related disorder	GLikely benign
Select item 3034876	NM_003743.5(NCOA1):c.93G>A (p.Thr31=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3347566	NM_003743.5(NCOA1):c.97A>G (p.Lys33Glu)	NCOA1 (K33E)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3351716	NM_003743.5(NCOA1):c.99G>A (p.Lys33=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3348949	NM_003743.5(NCOA1):c.104G>A (p.Arg35His)	NCOA1 (R35H)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3349646	NM_003743.5(NCOA1):c.146T>A (p.Leu49Ter)	NCOA1 (L49*)	Single nucleotide variant (nonsense)	NCOA1-related disorder	GUncertain significance
Select item 3183449	NM_003743.5(NCOA1):c.162T>G (p.Ile54Met)	NCOA1 (I54M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634357	NM_003743.5(NCOA1):c.164G>C (p.Ser55Thr)	NCOA1 (S55T)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3358140	NM_003743.5(NCOA1):c.202A>C (p.Lys68Gln)	NCOA1 (K68Q)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3353849	NM_003743.5(NCOA1):c.222C>T (p.Val74=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 2623854	NM_003743.5(NCOA1):c.223G>A (p.Asp75Asn)	NCOA1 (D75N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350751	NM_003743.5(NCOA1):c.225T>C (p.Asp75=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 712500	NM_003743.5(NCOA1):c.237A>C (p.Leu79=)	NCOA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3041101	NM_003743.5(NCOA1):c.276C>T (p.Asp92=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3183510	NM_003743.5(NCOA1):c.280G>A (p.Val94Ile)	NCOA1 (V94I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351387	NM_003743.5(NCOA1):c.297C>T (p.Ile99=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3046061	NM_003743.5(NCOA1):c.306T>C (p.Ser102=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3349373	NM_003743.5(NCOA1):c.380del (p.Val127fs)	NCOA1 (V127fs)	Deletion (frameshift variant)	NCOA1-related disorder	GUncertain significance
Select item 3038589	NM_003743.5(NCOA1):c.414G>A (p.Glu138=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3345285	NM_003743.5(NCOA1):c.422C>G (p.Thr141Ser)	NCOA1 (T141S)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3351360	NM_003743.5(NCOA1):c.432A>G (p.Leu144=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3348306	NM_003743.5(NCOA1):c.461_462delinsTC (p.Thr154Ile)	NCOA1 (T154I)	Indel (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3183536	NM_003743.5(NCOA1):c.463A>T (p.Ser155Cys)	NCOA1 (S155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041716	NM_003743.5(NCOA1):c.465C>T (p.Ser155=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3350404	NM_003743.5(NCOA1):c.477A>C (p.Ile159=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 2555273	NM_003743.5(NCOA1):c.484G>A (p.Val162Met)	NCOA1 (V162M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051254	NM_003743.5(NCOA1):c.517C>T (p.Leu173=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3352238	NM_003743.5(NCOA1):c.531A>G (p.Leu177=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3345670	NM_003743.5(NCOA1):c.562A>T (p.Thr188Ser)	NCOA1 (T188S)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3357536	NM_003743.5(NCOA1):c.578A>G (p.His193Arg)	NCOA1 (H193R)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3351141	NM_003743.5(NCOA1):c.607C>T (p.Pro203Ser)	NCOA1 (P203S)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3349922	NM_003743.5(NCOA1):c.627C>T (p.Thr209=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3045295	NM_003743.5(NCOA1):c.639A>G (p.Glu213=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3357532	NM_003743.5(NCOA1):c.649C>T (p.Arg217Cys)	NCOA1 (R217C)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3298819	NM_003743.5(NCOA1):c.650G>A (p.Arg217His)	NCOA1 (R217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352047	NM_003743.5(NCOA1):c.651T>G (p.Arg217=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 2650717	NM_003743.5(NCOA1):c.675T>G (p.Thr225=)	NCOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3358307	NM_003743.5(NCOA1):c.713-4G>A	NCOA1	Single nucleotide variant (intron variant)	NCOA1-related disorder	GLikely benign
Select item 3358138	NM_003743.5(NCOA1):c.723A>G (p.Ser241=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 2650718	NM_003743.5(NCOA1):c.771G>C (p.Thr257=)	NCOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650719	NM_003743.5(NCOA1):c.852C>A (p.Gly284=)	NCOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3031783	NM_003743.5(NCOA1):c.867A>G (p.Glu289=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 2634077	NM_003743.5(NCOA1):c.876G>A (p.Val292=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GUncertain significance
Select item 3358381	NM_003743.5(NCOA1):c.906T>G (p.Pro302=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3354557	NM_003743.5(NCOA1):c.924T>G (p.Ser308=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 2335168	NM_003743.5(NCOA1):c.925T>A (p.Tyr309Asn)	NCOA1 (Y309N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059318	NM_003743.5(NCOA1):c.945A>G (p.Gln315=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GBenign
Select item 3346234	NM_003743.5(NCOA1):c.958C>T (p.Arg320Cys)	NCOA1 (R320C)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3357561	NM_003743.5(NCOA1):c.986G>A (p.Arg329Lys)	NCOA1 (R329K)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2631359	NM_003743.5(NCOA1):c.991A>G (p.Ile331Val)	NCOA1 (I331V)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3357714	NM_003743.5(NCOA1):c.1016G>C (p.Ser339Thr)	NCOA1 (S339T)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3354043	NM_003743.5(NCOA1):c.1038T>C (p.Leu346=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3350512	NM_003743.5(NCOA1):c.1045C>A (p.Pro349Thr)	NCOA1 (P349T)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3353540	NM_003743.5(NCOA1):c.1047T>C (p.Pro349=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3350413	NM_003743.5(NCOA1):c.1056A>G (p.Pro352=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3348942	NM_003743.5(NCOA1):c.1060A>T (p.Met354Leu)	NCOA1 (M354L)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3358137	NM_003743.5(NCOA1):c.1066C>A (p.Pro356Thr)	NCOA1 (P356T)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3350980	NM_003743.5(NCOA1):c.1093G>A (p.Asp365Asn)	NCOA1 (D365N)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3358209	NM_003743.5(NCOA1):c.1097+4C>T	NCOA1	Single nucleotide variant (intron variant)	NCOA1-related disorder	GLikely benign
Select item 3348731	NM_003743.5(NCOA1):c.1112T>C (p.Leu371Pro)	NCOA1 (L371P)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2366097	NM_003743.5(NCOA1):c.1117C>T (p.Pro373Ser)	NCOA1 (P373S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282828	NM_003743.5(NCOA1):c.1129A>C (p.Thr377Pro)	NCOA1 (T377P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507866	NM_003743.5(NCOA1):c.1130C>A (p.Thr377Asn)	NCOA1 (T377N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629433	NM_003743.5(NCOA1):c.1134T>A (p.Asn378Lys)	NCOA1 (N378K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348121	NM_003743.5(NCOA1):c.1153C>G (p.Arg385Gly)	NCOA1 (R385G)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2635745	NM_003743.5(NCOA1):c.1154G>A (p.Arg385Gln)	NCOA1 (R385Q)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3045189	NM_003743.5(NCOA1):c.1161T>C (p.Asn387=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3048501	NM_003743.5(NCOA1):c.1167G>A (p.Ser389=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3355063	NM_003743.5(NCOA1):c.1180A>G (p.Ile394Val)	NCOA1 (I394V)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3358673	NM_003743.5(NCOA1):c.1184C>G (p.Ser395Cys)	NCOA1 (S395C)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2519509	NM_003743.5(NCOA1):c.1205G>A (p.Arg402His)	NCOA1 (R402H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3347784	NM_003743.5(NCOA1):c.1247C>G (p.Thr416Ser)	NCOA1 (T416S)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3350567	NM_003743.5(NCOA1):c.1258C>T (p.Arg420Cys)	NCOA1 (R420C)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2630790	NM_003743.5(NCOA1):c.1259G>A (p.Arg420His)	NCOA1 (R420H)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3354844	NM_003743.5(NCOA1):c.1275C>A (p.Asp425Glu)	NCOA1 (D425E)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3348776	NM_003743.5(NCOA1):c.1276C>T (p.Leu426Phe)	NCOA1 (L426F)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2251324	NM_003743.5(NCOA1):c.1280A>C (p.His427Pro)	NCOA1 (H427P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035801	NM_003743.5(NCOA1):c.1287C>T (p.Ser429=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3358279	NM_003743.5(NCOA1):c.1292A>C (p.His431Pro)	NCOA1 (H431P)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance

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