"Fulgent Genetics, Fulgent Genetics"[submitter] AND "BCOR"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 434506	NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=)	BCOR	Single nucleotide variant (synonymous variant)	Microphthalmia, syndromic 1 +2 more	GBenign/Likely benign
Select item 591128	NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His)	BCOR (L808H)	Indel (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 760314	NM_001123385.2(BCOR):c.2423T>A (p.Leu808His)	BCOR (L808H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 95768	NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser)	BCOR (G709S)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +2 more	GUncertain significance
Select item 1337408	NM_001123385.2(BCOR):c.1078C>T (p.His360Tyr)	BCOR, LOC126863239 (H360Y)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +2 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 +2 more	GBenign/Likely benign
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

ClinVar