Related gene-specific medical variations for Gene (Select 1488) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2556519	NM_017580.3(ZRANB1):c.2071C>T (p.Arg691Trp)	CTBP2, ZRANB1 (R691W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2399615	NM_017580.3(ZRANB1):c.2008C>T (p.Arg670Trp)	CTBP2, ZRANB1 (R670W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2257082	NM_017580.3(ZRANB1):c.2005C>T (p.Arg669Trp)	CTBP2, ZRANB1 (R669W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1696855	NM_001329.4(CTBP2):c.349G>A (p.Gly117Ser)	CTBP2 (G117S +2 more)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 1696849	NM_022802.3(CTBP2):c.2165C>T (p.Thr722Met)	CTBP2 (T182M +2 more)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 1696848	NM_022802.3(CTBP2):c.2287G>A (p.Val763Met)	CTBP2 (V223M +2 more)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic

ClinVar