CN239278[trait identifier] AND "GenomeConnect, ClinGen"[submitter] - 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)	Hereditary cancer-predisposing syndrome +11 more	GConflicting classifications of pathogenicity
Select item 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	Inflammation of the large intestine +19 more	GPathogenic
Select item 5591	NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	CHEK2 (I157T +1 more)	Single nucleotide variant (missense variant +2 more)	Gastrointestinal carcinoma +14 more	GConflicting classifications of pathogenicity; risk factor
Select item 128071	NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	CHEK2 (R117G +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 2 +14 more	GPathogenic/Likely pathogenic
Select item 128068	NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)	CHEK2 (E64K)	Single nucleotide variant (missense variant +1 more)	CHEK2-Related Cancer Susceptibility +10 more	GConflicting classifications of pathogenicity
Select item 441100	NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu)	CHEK2 (Q27E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance

ClinVar