C1838333[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 548763	NM_000535.7(PMS2):c.2212G>T (p.Val738Phe)	PMS2 (V738F +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 855903	NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)	PMS2 (S410* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 4 +2 more	GPathogenic/Likely pathogenic
Select item 185185	NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)	PMS2 (A520V +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +8 more	GConflicting classifications of pathogenicity
Select item 827258	NM_000535.7(PMS2):c.779C>T (p.Ser260Phe)	PMS2 (S125F +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 455741	NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr)	PMS2 (C252Y +4 more)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 434028	NM_000535.7(PMS2):c.736C>A (p.Pro246Thr)	PMS2 (P246T +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +3 more	GUncertain significance
Select item 928305	NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)	PMS2 (Q102* +3 more)	Single nucleotide variant (nonsense +3 more)	Lynch syndrome 4 +4 more	GPathogenic/Likely pathogenic
Select item 846082	NM_000535.7(PMS2):c.232G>C (p.Glu78Gln)	PMS2 (E78Q +1 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +2 more	GUncertain significance