"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "MSH2"[gene - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339150	NM_000251.3(MSH2):c.149C>T (p.Ala50Val)	MSH2 (A50V)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 483666	NM_000251.3(MSH2):c.161C>T (p.Ala54Val)	MSH2 (A54V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2585101	NM_000251.3(MSH2):c.198del (p.Lys65_Tyr66insTer)	MSH2	Deletion (nonsense +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 91105	NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)	MSH2 (G162R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 2585096	NM_000251.3(MSH2):c.802_803insGT (p.Ser268fs)	MSH2 (S248fs +3 more)	Insertion (frameshift variant +3 more)	Lynch syndrome 1	GLikely pathogenic
Select item 3074943	NM_000251.3(MSH2):c.908A>G (p.Asp303Gly)	MSH2 (D163G +5 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1 +1 more	GUncertain significance
Select item 455475	NM_000251.3(MSH2):c.1192G>A (p.Ala398Thr)	MSH2 (A398T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 90616	NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)	MSH2 (Q429* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 237367	NM_000251.3(MSH2):c.1378A>G (p.Met460Val)	MSH2 (M460V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 90699	NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter)	MSH2 (Y522* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90753	NM_000251.3(MSH2):c.1699A>T (p.Lys567Ter)	MSH2 (K567* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 1782372	NM_000251.3(MSH2):c.1905del (p.Ala636fs)	MSH2 (A570fs +1 more)	Deletion (frameshift variant)	Lynch syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2584865	NM_000251.3(MSH2):c.2073del (p.Ile691fs)	MSH2 (I551fs +8 more)	Deletion (frameshift variant +1 more)	Muir-Torré syndrome	GLikely pathogenic
Select item 90929	NM_000251.3(MSH2):c.2211-2A>C	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90933	NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)	MSH2 (S743* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 455565	NM_000251.3(MSH2):c.2504A>G (p.Asn835Ser)	MSH2 (N835S +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity