"Department of Molecular Diagnostics, Institute of Oncology Ljubljana" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 617775	NM_000535.7(PMS2):c.678_681dup (p.Gly228fs)	PMS2 (G93fs +3 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 1	GLikely pathogenic
Select item 9234	NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)	PMS2 (R134* +2 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 142650	NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)	PMS2 (Q30*)	Single nucleotide variant (nonsense +3 more)	Hereditary nonpolyposis colon cancer +7 more	GPathogenic

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