ClinVar for PubMed (Select 16203774) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1731205	NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser)	MSH6 (G1139S +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +1 more	GLikely pathogenic
Select item 433923	NM_000179.3(MSH6):c.3416G>T (p.Gly1139Val)	MSH6 (G1139V +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 188515	NM_000251.3(MSH2):c.1278_1386+1del	MSH2	Deletion (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 184530	NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 91092	NM_000251.3(MSH2):c.399C>T (p.Asp133=)	MSH2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 90306	NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)	MLH1 (G22A)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 89551	NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)	MSH6 (E220D +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 42470	NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome 1	GBenign
Select item 41646	NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)	MSH2 (N596S +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +8 more	GConflicting classifications of pathogenicity
Select item 41596	NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)	MSH6 (S144I)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GBenign
Select item 36581	NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)	MSH6 (G39E)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36580	NM_000251.3(MSH2):c.942+3A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 8931	NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)	MSH6 (V878A +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign