"Ambry Genetics"[submitter] AND "BCOR"[gene] - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3133549	NM_001123385.2(BCOR):c.5240G>T (p.Ser1747Ile)	BCOR (S1695I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285485	NM_001123385.2(BCOR):c.5152C>T (p.Pro1718Ser)	BCOR (P1666S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521361	NM_001123385.2(BCOR):c.5134G>A (p.Asp1712Asn)	BCOR (D1678N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133548	NM_001123385.2(BCOR):c.5057A>G (p.Asn1686Ser)	BCOR (N1634S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 976181	NM_001123385.2(BCOR):c.5042G>A (p.Arg1681His)	BCOR (R1629H +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3133547	NM_001123385.2(BCOR):c.5041C>T (p.Arg1681Cys)	BCOR (R1681C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95772	NM_001123385.2(BCOR):c.4977-4G>T	BCOR	Single nucleotide variant (intron variant)	Oculofaciocardiodental syndrome +3 more	GBenign
Select item 520611	NM_001123385.2(BCOR):c.4972C>T (p.Gln1658Ter)	BCOR (Q1624* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 701998	NM_001123385.2(BCOR):c.4960G>C (p.Val1654Leu)	BCOR (V1654L +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2074957	NM_001123385.2(BCOR):c.4943C>T (p.Pro1648Leu)	BCOR (P1596L +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GConflicting classifications of pathogenicity
Select item 701345	NM_001123385.2(BCOR):c.4931C>T (p.Thr1644Ile)	BCOR (T1610I +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GBenign/Likely benign
Select item 931586	NM_001123385.2(BCOR):c.4903G>A (p.Asp1635Asn)	BCOR (D1601N +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GUncertain significance
Select item 1362567	NM_001123385.2(BCOR):c.4858C>G (p.Pro1620Ala)	BCOR (P1620A +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GUncertain significance
Select item 3133546	NM_001123385.2(BCOR):c.4828G>C (p.Asp1610His)	BCOR (D1576H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 465161	NM_001123385.2(BCOR):c.4824A>C (p.Pro1608=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome +2 more	GBenign/Likely benign
Select item 2239921	NM_001123385.2(BCOR):c.4822C>A (p.Pro1608Thr)	BCOR (P1574T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 194101	NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr)	BCOR (M1541T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3133545	NM_001123385.2(BCOR):c.4561G>A (p.Ala1521Thr)	BCOR (A1469T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282207	NM_001123385.2(BCOR):c.4391A>G (p.Glu1464Gly)	BCOR (E1464G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 579723	NM_001123385.2(BCOR):c.4319C>T (p.Pro1440Leu)	BCOR (P1440L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 284168	NM_001123385.2(BCOR):c.4258G>A (p.Asp1420Asn)	BCOR (D1420N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3133544	NM_001123385.2(BCOR):c.4099C>T (p.His1367Tyr)	BCOR (H1315Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 133695	NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg)	BCOR (K1291R +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 390714	NM_001123385.2(BCOR):c.3941C>A (p.Ala1314Asp)	BCOR (A1280D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2206453	NM_001123385.2(BCOR):c.3937C>G (p.Pro1313Ala)	BCOR (P1279A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228761	NM_001123385.2(BCOR):c.3919G>C (p.Ala1307Pro)	BCOR (A1307P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 284290	NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs)	BCOR (L1296fs +2 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 2538095	NM_001123385.2(BCOR):c.3836A>G (p.Asp1279Gly)	BCOR (D1245G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229554	NM_001123385.2(BCOR):c.3782G>C (p.Arg1261Thr)	BCOR (R1227T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333782	NM_001123385.2(BCOR):c.3691C>T (p.Arg1231Trp)	BCOR (R1179W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2483016	NM_001123385.2(BCOR):c.3689G>C (p.Gly1230Ala)	BCOR (G1230A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133543	NM_001123385.2(BCOR):c.3650G>A (p.Arg1217Gln)	BCOR (R1165Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261866	NM_001123385.2(BCOR):c.3560A>G (p.His1187Arg)	BCOR (H1187R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 599441	NM_001123385.2(BCOR):c.3533G>A (p.Ser1178Asn)	BCOR (S1178N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3260714	NM_001123385.2(BCOR):c.3488G>A (p.Arg1163Gln)	BCOR (R1145Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241423	NM_001123385.2(BCOR):c.3485G>A (p.Arg1162His)	BCOR (R1144H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3260715	NM_001123385.2(BCOR):c.3424A>G (p.Ser1142Gly)	BCOR (S1142G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3133542	NM_001123385.2(BCOR):c.3372G>A (p.Met1124Ile)	BCOR (M1124I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1128751	NM_001123385.2(BCOR):c.3349G>A (p.Ala1117Thr)	BCOR (A1099T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2260740	NM_001123385.2(BCOR):c.3346C>A (p.Pro1116Thr)	BCOR (P1098T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 590251	NM_001123385.2(BCOR):c.3305T>G (p.Val1102Gly)	BCOR (V1102G +1 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GBenign/Likely benign
Select item 133693	NM_001123385.2(BCOR):c.3277G>A (p.Glu1093Lys)	BCOR (E1093K +1 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +2 more	GBenign/Likely benign
Select item 133679	NM_001123385.2(BCOR):c.2954A>T (p.Tyr985Phe)	BCOR (Y985F)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GUncertain significance
Select item 2215532	NM_001123385.2(BCOR):c.2764A>G (p.Lys922Glu)	BCOR (K922E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276672	NM_001123385.2(BCOR):c.2654C>T (p.Ala885Val)	BCOR (A885V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 411860	NM_001123385.2(BCOR):c.2647G>A (p.Val883Ile)	BCOR (V883I)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2270445	NM_001123385.2(BCOR):c.2551G>T (p.Asp851Tyr)	BCOR (D851Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257930	NM_001123385.2(BCOR):c.2524G>C (p.Val842Leu)	BCOR (V842L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521011	NM_001123385.2(BCOR):c.2428C>T (p.Arg810Ter)	BCOR (R810*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 2304898	NM_001123385.2(BCOR):c.2422C>T (p.Leu808Phe)	BCOR (L808F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2228707	NM_001123385.2(BCOR):c.2407C>T (p.Leu803Phe)	BCOR (L803F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2081550	NM_001123385.2(BCOR):c.2396A>G (p.Lys799Arg)	BCOR (K799R)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GUncertain significance
Select item 3133541	NM_001123385.2(BCOR):c.2364C>G (p.Asn788Lys)	BCOR (N788K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332634	NM_001123385.2(BCOR):c.2333A>G (p.Asp778Gly)	BCOR (D778G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 265045	NM_001123385.2(BCOR):c.2287C>T (p.Arg763Trp)	BCOR (R763W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2254914	NM_001123385.2(BCOR):c.2275A>C (p.Thr759Pro)	BCOR (T759P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2237103	NM_001123385.2(BCOR):c.2140G>C (p.Val714Leu)	BCOR (V714L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 695595	NM_001123385.2(BCOR):c.2124C>T (p.Thr708=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome +1 more	GBenign/Likely benign
Select item 3133540	NM_001123385.2(BCOR):c.2060C>G (p.Pro687Arg)	BCOR (P687R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1784840	NM_001123385.2(BCOR):c.2038_2040dup (p.Tyr680_Pro681insTyr)	BCOR	Duplication (inframe_insertion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 95767	NM_001123385.2(BCOR):c.1791C>T (p.His597=)	BCOR	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +3 more	GBenign
Select item 128523	NM_001123385.2(BCOR):c.1779C>A (p.Ser593=)	BCOR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 797042	NM_001123385.2(BCOR):c.1708G>A (p.Ala570Thr)	BCOR (A570T)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GLikely benign
Select item 95766	NM_001123385.2(BCOR):c.1692A>G (p.Ala564=)	BCOR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 95765	NM_001123385.2(BCOR):c.1650C>T (p.Thr550=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome +3 more	GBenign/Likely benign
Select item 2593037	NM_001123385.2(BCOR):c.1589A>C (p.Lys530Thr)	BCOR, LOC126863239 (K530T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133539	NM_001123385.2(BCOR):c.1579C>A (p.Leu527Met)	BCOR, LOC126863239 (L527M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275522	NM_001123385.2(BCOR):c.1552G>A (p.Glu518Lys)	BCOR, LOC126863239 (E518K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 133683	NM_001123385.2(BCOR):c.1465C>T (p.Pro489Ser)	BCOR, LOC126863239 (P489S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308951	NM_001123385.2(BCOR):c.1381A>G (p.Met461Val)	BCOR, LOC126863239 (M461V)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +2 more	GUncertain significance
Select item 95764	NM_001123385.2(BCOR):c.1260T>C (p.Asp420=)	BCOR, LOC126863239	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 2312591	NM_001123385.2(BCOR):c.1184A>G (p.Lys395Arg)	BCOR, LOC126863239 (K395R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133538	NM_001123385.2(BCOR):c.1074C>G (p.His358Gln)	BCOR, LOC126863239 (H358Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 590203	NM_001123385.2(BCOR):c.780C>T (p.Ser260=)	BCOR, LOC126863239	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2541996	NM_001123385.2(BCOR):c.680A>G (p.Tyr227Cys)	BCOR, LOC126863239 (Y227C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 133685	NM_001123385.2(BCOR):c.626C>T (p.Ser209Leu)	BCOR, LOC126863239 (S209L)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GBenign
Select item 521342	NM_001123385.2(BCOR):c.574G>C (p.Val192Leu)	BCOR, LOC126863239 (V192L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1744266	NM_001123385.2(BCOR):c.493G>C (p.Ala165Pro)	BCOR, LOC126863239 (A165P)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GUncertain significance
Select item 696167	NM_001123385.2(BCOR):c.482C>T (p.Ala161Val)	BCOR, LOC126863239 (A161V)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +3 more	GBenign/Likely benign
Select item 1741699	NM_001123385.2(BCOR):c.458C>T (p.Pro153Leu)	BCOR, LOC126863239 (P153L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1309915	NM_001123385.2(BCOR):c.439G>A (p.Ala147Thr)	BCOR, LOC126863239 (A147T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 210521	NM_001123385.2(BCOR):c.408C>T (p.Ala136=)	BCOR, LOC126863239	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +2 more	GConflicting classifications of pathogenicity
Select item 133689	NM_001123385.2(BCOR):c.365T>C (p.Met122Thr)	BCOR (M122T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1546579	NM_001123385.2(BCOR):c.242G>A (p.Gly81Glu)	BCOR (G81E)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GBenign/Likely benign
Select item 1060863	NM_001123385.2(BCOR):c.51C>G (p.Ser17Arg)	BCOR (S17R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 85