"Constitutional Genetics Lab, Leon Berard Cancer Center"[submitter] AN - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 230486	NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr)	PMS2 (A854T +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 631003	NM_000535.7(PMS2):c.1756T>C (p.Ser586Pro)	PMS2 (S586P +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 142447	NM_000535.7(PMS2):c.1399G>A (p.Val467Ile)	PMS2 (V467I +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 127751	NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)	PMS2 (N335S +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 922836	NM_000535.7(PMS2):c.802del (p.Tyr268fs)	PMS2 (Y162fs +4 more)	Deletion (frameshift variant +2 more)	Lynch syndrome +4 more	GPathogenic/Likely pathogenic
Select item 141395	NM_000535.7(PMS2):c.325del (p.Glu109fs)	PMS2 (E109fs)	Deletion (frameshift variant +3 more)	Lynch syndrome 4 +3 more	GPathogenic
Select item 819927	NM_000535.7(PMS2):c.172C>T (p.Leu58Phe)	PMS2 (L58F)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +2 more	GUncertain significance

ClinVar