C5436817[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 234604	NM_000535.7(PMS2):c.2445+1G>T	PMS2	Single nucleotide variant (splice donor variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 91331	NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)	PMS2 (L420fs +7 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 127770	NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)	PMS2 (T671M +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 91321	NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)	PMS2 (K647* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 619889	NM_000535.7(PMS2):c.1912del (p.Gln638fs)	PMS2 (Q451fs +7 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 4 +4 more	GPathogenic/Likely pathogenic
Select item 135067	NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)	PMS2 (R563* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome +6 more	GPathogenic
Select item 1709656	NM_000535.7(PMS2):c.638C>T (p.Pro213Leu)	PMS2 (P101L +6 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Mismatch repair cancer syndrome 4	GUncertain significance

ClinVar