"Ambry Genetics"[submitter] AND "ITGB1BP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2539514	NM_004763.5(ITGB1BP1):c.577T>A (p.Ser193Thr)	ITGB1BP1 (S121T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292375	NM_004763.5(ITGB1BP1):c.565A>G (p.Thr189Ala)	ITGB1BP1 (T117A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322211	NM_004763.5(ITGB1BP1):c.449C>T (p.Ala150Val)	ITGB1BP1 (A106V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2538250	NM_004763.5(ITGB1BP1):c.382G>T (p.Asp128Tyr)	ITGB1BP1 (D84Y +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2252044	NM_004763.5(ITGB1BP1):c.343T>C (p.Ser115Pro)	ITGB1BP1 (S115P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366922	NM_004763.5(ITGB1BP1):c.191G>A (p.Arg64Gln)	ITGB1BP1 (R20Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

ClinVar