Related gene-specific medical variations for Gene (Select 55872) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3209016	NM_018492.4(PBK):c.796T>G (p.Phe266Val)	ESCO2, PBK (F266V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467363	NM_018492.4(PBK):c.923G>A (p.Arg308His)	ESCO2, PBK (R308H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405302	NM_018492.4(PBK):c.928T>G (p.Ser310Ala)	ESCO2, PBK (S321A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323441	NM_018492.4(PBK):c.827G>A (p.Gly276Glu)	ESCO2, PBK (G287E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776306	NM_018492.4(PBK):c.132A>G (p.Val44=)	LOC129389973, PBK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776305	NM_018492.4(PBK):c.660G>C (p.Glu220Asp)	ESCO2, PBK (E231D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign

ClinVar