"Ambry Genetics"[submitter] AND "LOC126863239"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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