ClinVar for PubMed (Select 18307539) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2422659	NC_000002.11:g.(?_47596645)_(47639709_?)del	EPCAM, MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1783088	NM_000249.4(MLH1):c.1943C>A (p.Pro648His)	MLH1 (P307H +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1075374	NC_000002.11:g.(?_47596635)_(47639709_?)del	EPCAM, MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 830910	NC_000002.12:g.(?_47412404)_(47414428_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 525804	NM_000249.4(MLH1):c.1942C>G (p.Pro648Ala)	MLH1 (P648A +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 91127	NM_000251.3(MSH2):c.529G>A (p.Glu177Lys)	MSH2 (E177K +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 90921	NM_000251.3(MSH2):c.2210+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90697	NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs)	MSH2 (Q452fs +1 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 90435	NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)	MLH1 (Q301* +3 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 90043	NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)	MLH1 (Q701* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 89953	NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)	MLH1 (P648L +6 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GLikely pathogenic
Select item 89559	NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)	MSH6 (R240* +1 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 41632	NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)	MLH1 (V384D +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 17087	NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)	MLH1 (R226* +2 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic