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	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +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 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 2634123	NM_003743.5(NCOA1):c.76A>C (p.Thr26Pro)	NCOA1 (T26P)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
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 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 2623854	NM_003743.5(NCOA1):c.223G>A (p.Asp75Asn)	NCOA1 (D75N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3046061	NM_003743.5(NCOA1):c.306T>C (p.Ser102=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
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 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 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 3045295	NM_003743.5(NCOA1):c.639A>G (p.Glu213=)	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 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 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 2631359	NM_003743.5(NCOA1):c.991A>G (p.Ile331Val)	NCOA1 (I331V)	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 +1 more	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 +1 more	GUncertain significance
Select item 2629433	NM_003743.5(NCOA1):c.1134T>A (p.Asn378Lys)	NCOA1 (N378K)	Single nucleotide variant (missense variant)	not specified +1 more	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 2519509	NM_003743.5(NCOA1):c.1205G>A (p.Arg402His)	NCOA1 (R402H)	Single nucleotide variant (missense variant)	not specified +1 more	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 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 3038306	NM_003743.5(NCOA1):c.1292A>G (p.His431Arg)	NCOA1 (H431R)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2634540	NM_003743.5(NCOA1):c.1316G>A (p.Gly439Glu)	NCOA1 (G439E)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3034591	NM_003743.5(NCOA1):c.1335C>T (p.Pro445=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3035112	NM_003743.5(NCOA1):c.1360G>A (p.Ala454Thr)	NCOA1 (A454T)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2634971	NM_003743.5(NCOA1):c.1402T>G (p.Ser468Ala)	NCOA1 (S468A)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3035086	NM_003743.5(NCOA1):c.1419T>C (p.Asn473=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 2650720	NM_003743.5(NCOA1):c.1434T>C (p.Gly478=)	NCOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2354511	NM_003743.5(NCOA1):c.1435A>G (p.Thr479Ala)	NCOA1 (T479A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528603	NM_003743.5(NCOA1):c.1436C>T (p.Thr479Ile)	NCOA1 (T479I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459055	NM_003743.5(NCOA1):c.1445C>G (p.Ser482Cys)	NCOA1 (S482C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3040038	NM_003743.5(NCOA1):c.1451C>T (p.Ala484Val)	NCOA1 (A484V)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2630342	NM_003743.5(NCOA1):c.1490T>C (p.Leu497Ser)	NCOA1 (L497S)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3183435	NM_003743.5(NCOA1):c.1505G>A (p.Arg502Lys)	NCOA1 (R502K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614148	NM_003743.5(NCOA1):c.1517A>G (p.Asn506Ser)	NCOA1 (N506S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301595	NM_003743.5(NCOA1):c.1528C>T (p.Pro510Ser)	NCOA1 (P510S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629492	NM_003743.5(NCOA1):c.1538C>T (p.Ser513Leu)	NCOA1 (S513L)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3053202	NM_003743.5(NCOA1):c.1539G>A (p.Ser513=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3029179	NM_003743.5(NCOA1):c.1542A>G (p.Thr514=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 2634183	NM_003743.5(NCOA1):c.1553C>G (p.Pro518Arg)	NCOA1 (P518R)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2267940	NM_003743.5(NCOA1):c.1583A>G (p.Asn528Ser)	NCOA1 (N528S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280951	NM_003743.5(NCOA1):c.1603A>G (p.Asn535Asp)	NCOA1 (N535D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046147	NM_003743.5(NCOA1):c.1617A>G (p.Thr539=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 3043977	NM_003743.5(NCOA1):c.1622T>C (p.Leu541Ser)	NCOA1 (L541S)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2631108	NM_003743.5(NCOA1):c.1640G>T (p.Gly547Val)	NCOA1 (G547V)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2622650	NM_003743.5(NCOA1):c.1654G>A (p.Val552Ile)	NCOA1 (V552I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046245	NM_003743.5(NCOA1):c.1690A>G (p.Met564Val)	NCOA1 (M564V)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2547260	NM_003743.5(NCOA1):c.1700A>G (p.Gln567Arg)	NCOA1 (Q567R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183454	NM_003743.5(NCOA1):c.1724T>C (p.Ile575Thr)	NCOA1 (I575T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634345	NM_003743.5(NCOA1):c.1727A>C (p.Gln576Pro)	NCOA1 (Q576P)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3049143	NM_003743.5(NCOA1):c.1761G>A (p.Glu587=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 2304339	NM_003743.5(NCOA1):c.1786A>G (p.Ile596Val)	NCOA1 (I596V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321289	NM_003743.5(NCOA1):c.1880C>T (p.Ser627Phe)	NCOA1 (S627F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035243	NM_003743.5(NCOA1):c.1884A>G (p.Gln628=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 2650721	NM_003743.5(NCOA1):c.1923C>T (p.Ala641=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder +1 more	GLikely benign
Select item 3032246	NM_003743.5(NCOA1):c.2003C>T (p.Ser668Phe)	NCOA1 (S668F)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3039870	NM_003743.5(NCOA1):c.2025T>C (p.Ser675=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 2245918	NM_003743.5(NCOA1):c.2056C>T (p.Arg686Trp)	NCOA1 (R686W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610493	NM_003743.5(NCOA1):c.2074C>G (p.Arg692Gly)	NCOA1 (R692G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278854	NM_003743.5(NCOA1):c.2149A>C (p.Thr717Pro)	NCOA1 (T717P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054274	NM_003743.5(NCOA1):c.2175A>G (p.Val725=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 2274350	NM_003743.5(NCOA1):c.2185T>C (p.Ser729Pro)	NCOA1 (S729P)	Single nucleotide variant (missense variant)	NCOA1-related disorder +1 more	GUncertain significance
Select item 2284829	NM_003743.5(NCOA1):c.2191A>G (p.Ile731Val)	NCOA1 (I731V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206411	NM_003743.5(NCOA1):c.2249G>A (p.Arg750His)	NCOA1 (R750H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3058259	NM_003743.5(NCOA1):c.2259A>G (p.Leu753=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign
Select item 2634111	NM_003743.5(NCOA1):c.2270A>G (p.Glu757Gly)	NCOA1 (E757G)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2631975	NM_003743.5(NCOA1):c.2323G>C (p.Val775Leu)	NCOA1 (V775L)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2557876	NM_003743.5(NCOA1):c.2357C>G (p.Thr786Arg)	NCOA1 (T786R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551541	NM_003743.5(NCOA1):c.2383A>G (p.Thr795Ala)	NCOA1 (T795A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522912	NM_003743.5(NCOA1):c.2384C>T (p.Thr795Ile)	NCOA1 (T795I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2634240	NM_003743.5(NCOA1):c.2395A>T (p.Ile799Leu)	NCOA1 (I799L)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 2634359	NM_003743.5(NCOA1):c.2411A>G (p.Gln804Arg)	NCOA1 (Q804R)	Single nucleotide variant (missense variant)	NCOA1-related disorder	GUncertain significance
Select item 3059890	NM_003743.5(NCOA1):c.2419-8A>G	NCOA1	Single nucleotide variant (intron variant)	NCOA1-related disorder	GLikely benign
Select item 2391462	NM_003743.5(NCOA1):c.2428G>A (p.Asp810Asn)	NCOA1 (D810N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3038992	NM_003743.5(NCOA1):c.2430C>T (p.Asp810=)	NCOA1	Single nucleotide variant (synonymous variant)	NCOA1-related disorder	GLikely benign

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