C2936783[trait identifier] AND "Zotz-Klimas Genetics Lab, MVZ Zotz Kli - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 91110	NM_000251.3(MSH2):c.490G>T (p.Gly164Trp)	MSH2 (G164W +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 91194	NM_000251.3(MSH2):c.742A>G (p.Lys248Glu)	MSH2 (K248E +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 140810	NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)	MSH2 (P259S +1 more)	Single nucleotide variant (missense variant)	MSH2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 90669	NM_000251.3(MSH2):c.1447_1448del (p.Glu483fs)	MSH2 (E417fs +1 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 90855	NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)	MSH2 (P670L +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 216350	NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)	MSH2 (A733T +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 140785	NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)	MSH2	Deletion (inframe_deletion)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 89534	NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)	MSH6 (S156*)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 89992	NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	MLH1 (G67R)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GPathogenic