"GeneDx"[submitter] AND "LOC126863239"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146054	GRCh38/hg38 Xp11.4(chrX:39842449-40117345)x2	BCOR, LOC107985687 +25 more	Copy number gain	See cases	GUncertain significance
Select item 3252504	NM_001123385.2(BCOR):c.1595T>C (p.Leu532Ser)	BCOR, LOC126863239 (L532S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698102	NM_001123385.2(BCOR):c.1571G>A (p.Ser524Asn)	BCOR, LOC126863239 (S524N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502103	NM_001123385.2(BCOR):c.1553A>G (p.Glu518Gly)	BCOR, LOC126863239 (E518G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311571	NM_001123385.2(BCOR):c.1523C>T (p.Ser508Phe)	BCOR, LOC126863239 (S508F)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GUncertain significance
Select item 3373692	NM_001123385.2(BCOR):c.1516C>T (p.Pro506Ser)	BCOR, LOC126863239 (P506S)	Single nucleotide variant (missense variant)	not provided	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 1309190	NM_001123385.2(BCOR):c.1157C>A (p.Ala386Asp)	BCOR, LOC126863239 (A386D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 217354	NM_001123385.2(BCOR):c.1136_1139del (p.Val379fs)	BCOR, LOC126863239 (V379fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 279700	NM_001123385.2(BCOR):c.1084G>A (p.Ala362Thr)	LOC126863239, BCOR (A362T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 429288	NM_001123385.2(BCOR):c.1024C>T (p.Arg342Ter)	BCOR, LOC126863239 (R342*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2505928	NM_001123385.2(BCOR):c.976C>G (p.Pro326Ala)	BCOR, LOC126863239 (P326A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418060	NM_001123385.2(BCOR):c.932AGC[1] (p.Gln312del)	BCOR, LOC126863239 (Q312del)	Microsatellite (inframe_deletion)	not specified +1 more	GLikely benign
Select item 3372360	NM_001123385.2(BCOR):c.928A>G (p.Ser310Gly)	BCOR, LOC126863239 (S310G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 945236	NM_001123385.2(BCOR):c.779C>G (p.Ser260Cys)	BCOR, LOC126863239 (S260C)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GUncertain significance
Select item 1304581	NM_001123385.2(BCOR):c.733C>T (p.Leu245Phe)	BCOR, LOC126863239 (L245F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691623	NM_001123385.2(BCOR):c.728G>A (p.Arg243His)	BCOR, LOC126863239 (R243H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419569	NM_001123385.2(BCOR):c.678dup (p.Tyr227fs)	BCOR, LOC126863239 (Y227fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2499335	NM_001123385.2(BCOR):c.650T>C (p.Met217Thr)	BCOR, LOC126863239 (M217T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704112	NM_001123385.2(BCOR):c.590A>C (p.Glu197Ala)	BCOR, LOC126863239 (E197A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810651	NM_001123385.2(BCOR):c.562C>T (p.Arg188Trp)	BCOR, LOC126863239 (R188W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 524141	NM_001123385.2(BCOR):c.524_527del (p.Lys175fs)	LOC126863239, BCOR (K175fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1708849	NM_001123385.2(BCOR):c.460G>A (p.Gly154Arg)	BCOR, LOC126863239 (G154R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

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Items: 26