"Center of Medical Genetics and Primary Health Care"[submitter] AND "C - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128056	NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)	CHEK2 (D438Y +4 more)	Single nucleotide variant (missense variant)	CHEK2-related cancer predisposition +10 more	GConflicting classifications of pathogenicity
Select item 142524	NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)	CHEK2 (G167R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +7 more	GPathogenic/Likely pathogenic
Select item 128077	NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)	CHEK2 (I160M +1 more)	Single nucleotide variant (missense variant +2 more)	CHEK2-related cancer predisposition +5 more	GConflicting classifications of pathogenicity
Select item 5591	NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	CHEK2 (I157T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +14 more	GConflicting classifications of pathogenicity; risk factor
Select item 186751	NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)	CHEK2 (K141T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 182452	NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)	CHEK2 (R137* +1 more)	Single nucleotide variant (nonsense +1 more)	CHEK2-related cancer predisposition +8 more	GPathogenic

ClinVar