"ITMI"[submitter] AND "BCOR"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133691	NM_001123385.2(BCOR):c.5234A>C (p.His1745Pro)	BCOR (H1711P +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 133690	NM_001123385.2(BCOR):c.4766G>A (p.Arg1589His)	BCOR (R1555H +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 133696	NM_001123385.2(BCOR):c.4014A>C (p.Glu1338Asp)	BCOR (E1304D +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 133695	NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg)	BCOR (K1291R +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +2 more	GBenign
Select item 133694	NM_001123385.2(BCOR):c.3802A>G (p.Arg1268Gly)	BCOR (R1234G +2 more)	Single nucleotide variant (missense variant)	BCOR-related disorder +1 more	GBenign/Likely benign
Select item 133692	NM_001123385.2(BCOR):c.3440C>T (p.Thr1147Ile)	BCOR (T1147I +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133693	NM_001123385.2(BCOR):c.3277G>A (p.Glu1093Lys)	BCOR (E1093K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 133684	NM_001123385.2(BCOR):c.2509C>G (p.Pro837Ala)	BCOR (P837A)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133686	NM_001123385.2(BCOR):c.2129G>A (p.Arg710His)	BCOR (R710H)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GBenign
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 133682	NM_001123385.2(BCOR):c.1448C>T (p.Pro483Leu)	BCOR, LOC126863239 (P483L)	Single nucleotide variant (missense variant)	BCOR-related disorder +1 more	GBenign/Likely benign
Select item 133678	NM_001123385.2(BCOR):c.1264A>G (p.Ser422Gly)	BCOR, LOC126863239 (S422G)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 133681	NM_001123385.2(BCOR):c.1016C>T (p.Pro339Leu)	BCOR, LOC126863239 (P339L)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	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 133680	NM_001123385.2(BCOR):c.586A>C (p.Met196Leu)	BCOR, LOC126863239 (M196L)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133688	NM_001123385.2(BCOR):c.409G>A (p.Val137Ile)	LOC126863239, BCOR (V137I)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +2 more	GLikely benign
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 133687	NM_001123385.2(BCOR):c.305G>C (p.Arg102Pro)	BCOR (R102P)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133677	NM_001123385.2(BCOR):c.11C>T (p.Ala4Val)	BCOR (A4V)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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Items: 20