"MGZ Medical Genetics Center"[submitter] AND "MSH2"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 234193	NM_000251.3(MSH2):c.272A>T (p.Asp91Val)	MSH2 (D91V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +4 more	GUncertain significance
Select item 408452	NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)	MSH2 (Q130* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1709522	NM_000251.3(MSH2):c.524del (p.Leu175fs)	MSH2 (L109fs +1 more)	Deletion (frameshift variant)	Lynch syndrome 1	GLikely pathogenic
Select item 455615	NM_000251.3(MSH2):c.808C>G (p.Leu270Val)	MSH2 (L270V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 91253	NM_000251.3(MSH2):c.943-1G>C	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 142516	NM_000251.3(MSH2):c.965G>T (p.Gly322Val)	MSH2 (G322V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 617771	NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter)	MSH2 (Q339* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1436927	NM_000251.3(MSH2):c.1061A>G (p.Asn354Ser)	MSH2 (N288S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1709889	NM_000251.3(MSH2):c.1138_1153dup (p.Pro385fs)	MSH2 (P319fs +1 more)	Duplication (frameshift variant)	Lynch syndrome 1	GPathogenic
Select item 1709934	NM_000251.3(MSH2):c.1258_1259del (p.Ala420fs)	MSH2 (A354fs +1 more)	Deletion (frameshift variant)	Lynch syndrome 1	GPathogenic
Select item 142530	NM_000251.3(MSH2):c.1343C>G (p.Ser448Cys)	MSH2 (S448C +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 629230	NM_000251.3(MSH2):c.1615T>C (p.Phe539Leu)	MSH2 (F539L +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +2 more	GUncertain significance
Select item 90903	NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	MSH2 (R711* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 433898	NM_000251.3(MSH2):c.2182_2199del (p.Glu728_Ala733del)	MSH2	Deletion (inframe_deletion)	Lynch syndrome 1	GUncertain significance
Select item 216354	NM_000251.3(MSH2):c.2379G>T (p.Gln793His)	MSH2 (Q793H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 873427	NM_000251.3(MSH2):c.2635-24A>G	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 455578	NM_000251.3(MSH2):c.2661C>G (p.Phe887Leu)	MSH2 (F887L +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity