"Institute of Human Genetics, Medical University Innsbruck"[submitter] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9237	NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)	PMS2 (R802* +9 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 91317	NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	PMS2 (I476fs +7 more)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 91366	NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)	PMS2	Indel (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 977322	NM_000535.6:c.(988+1_989-1)_(1144+1_1145-1)del	PMS2	Deletion	Mismatch repair cancer syndrome 1	GPathogenic

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