ClinVar for PubMed (Select 16736289) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2422638	NC_000003.11:g.(?_37034542)_(37042554_?)del	EPM2AIP1, MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2422634	NC_000003.11:g.(?_37037900)_(37038207_?)del	MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1960238	NM_000249.4(MLH1):c.2091_2093delinsT (p.Ser698fs)	MLH1 (S357fs +7 more)	Indel (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +1 more	GPathogenic
Select item 1723756	NM_000249.4(MLH1):c.83C>A (p.Pro28Gln)	MLH1 (P28Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1460381	NC_000002.11:g.(?_47630331)_(47672806_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1459780	NC_000002.11:g.(?_47596645)_(47672806_?)del	EPCAM, MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1069472	NC_000002.11:g.(?_47630252)_(47672806_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 982005	NC_000002.12:g.(47416430_47429741)_(47445658_47463030)del	MSH2	Deletion	Hereditary nonpolyposis colon cancer	GPathogenic
Select item 831396	NC_000002.12:g.(?_47429732)_(47445667_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 584342	NC_000002.12:g.(?_47369496)_(47445667_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455053	NC_000002.12:g.(?_47429736)_(47445663_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 433583	Single allele	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 232810	NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg)	MSH2 (G338R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 220628	NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala)	MSH2 (G338A +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 91271	NM_000251.3(MSH2):c.991A>G (p.Asn331Asp)	MSH2 (N331D +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GUncertain significance
Select item 91146	NM_000251.3(MSH2):c.595T>C (p.Cys199Arg)	MSH2 (C199R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 91097	NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	MSH2 (I145M +1 more)	Single nucleotide variant (missense variant)	MSH2-related disorder +9 more	GConflicting classifications of pathogenicity
Select item 91062	NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)	MSH2 (R106K +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 90949	NM_000251.3(MSH2):c.2292G>A (p.Trp764Ter)	MSH2 (W764* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90915	NM_000251.3(MSH2):c.2191G>T (p.Glu731Ter)	MSH2 (E731* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90642	NM_000251.3(MSH2):c.1386+1G>C	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90641	NM_000251.3(MSH2):c.1386+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90554	NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	MSH2 (R383* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90503	NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)	MSH2 (G338R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 90413	NM_000249.4(MLH1):c.884+3A>G	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +3 more	GConflicting classifications of pathogenicity
Select item 90407	NM_000249.4(MLH1):c.882C>T (p.Leu294=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GPathogenic
Select item 90388	NM_000249.4(MLH1):c.83C>T (p.Pro28Leu)	MLH1 (P28L)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 90039	NM_000249.4(MLH1):c.2092_2093del (p.Ser698fs)	MLH1 (S600fs +7 more)	Microsatellite (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 89947	NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)	MLH1 (N64S)	Single nucleotide variant (missense variant +2 more)	Muir-Torré syndrome +9 more	GConflicting classifications of pathogenicity
Select item 89941	NM_000249.4(MLH1):c.190_191del (p.Asn64fs)	MLH1 (N64fs)	Deletion (frameshift variant +2 more)	Lynch syndrome	GPathogenic
Select item 89261	NM_000179.3(MSH6):c.2191C>T (p.Gln731Ter)	MSH6 (Q731* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 42496	NM_000249.4(MLH1):c.977T>C (p.Val326Ala)	MLH1 (V326A +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GBenign
Select item 41644	NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)	MSH2 (I577T +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 1755	NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	MSH2 (R406* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic

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Items: 34