"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 194101	NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr)	BCOR (M1541T +2 more)	Single nucleotide variant (missense variant)	BCOR-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 210523	NM_001123385.2(BCOR):c.4488A>C (p.Ala1496=)	BCOR	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 210518	NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)	BCOR (V679I)	Single nucleotide variant (missense variant)	Microphthalmia, syndromic 1 +3 more	GConflicting classifications of pathogenicity
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 210521	NM_001123385.2(BCOR):c.408C>T (p.Ala136=)	BCOR, LOC126863239	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1284408	NM_001123385.2(BCOR):c.163G>A (p.Val55Met)	BCOR (V55M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance