C0699790[trait identifier] AND "Pathway Genomics"[submitter] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41756	NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)	MUTYH (L529M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 41754	NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys)	MUTYH (R474C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 41753	NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)	MUTYH (R426C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 127831	NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	MUTYH (E383fs +7 more)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 142604	NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	MUTYH (P391L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Pilomatrixoma +8 more	GPathogenic/Likely pathogenic
Select item 141282	NM_001048174.2(MUTYH):c.1103-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 156509	NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)	MUTYH (Q391* +8 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 134860	NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	MUTYH (A357fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 156508	NM_001048174.2(MUTYH):c.1006C>T (p.Arg336Cys)	MUTYH (R364C +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 41767	NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)	MUTYH (Q338H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GBenign
Select item 143003	NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)	MUTYH (R247* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 127845	NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)	MUTYH (R19* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 90964	NM_000251.3(MSH2):c.23C>T (p.Thr8Met)	MSH2 (T8M)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36573	NM_000251.3(MSH2):c.211+9C>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 1762	NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)	MSH2 (G322D +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 36566	NM_000251.3(MSH2):c.1511-9A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 91039	NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)	MSH2 (L911R +1 more)	Single nucleotide variant (missense variant)	MSH2-related disorder +7 more	GConflicting classifications of pathogenicity
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 89534	NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)	MSH6 (S156*)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 36582	NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)	MSH6 (L396V +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 89198	NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)	MSH6 (S201C +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 41588	NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)	MSH6 (V509A +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 89352	NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	MSH6 (R1068* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 36541	NM_000249.4(MLH1):c.1558+14G>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 17089	NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)	MLH1 (K618A +5 more)	Indel (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36546	NM_000249.4(MLH1):c.1959G>T (p.Leu653=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 36547	NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)	MLH1 (H718Y +8 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 142574	NM_000038.6(APC):c.426_427del (p.Leu143fs)	APC (L143fs +3 more)	Deletion (frameshift variant +1 more)	Familial multiple polyposis syndrome +5 more	GPathogenic
Select item 156482	NM_000038.6(APC):c.1744-2A>G	APC	Single nucleotide variant (splice acceptor variant)	Familial multiple polyposis syndrome +3 more	GPathogenic
Select item 88913	NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)	APC	Deletion (frameshift variant +1 more)	Familial multiple polyposis syndrome +5 more	GPathogenic
Select item 816	NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)	APC (E1149fs +12 more)	Microsatellite (frameshift variant)	Familial adenomatous polyposis 1 +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 829	NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)	APC (E1317Q +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +4 more	GBenign/Likely benign
Select item 127322	NM_000038.6(APC):c.8068G>A (p.Ala2690Thr)	APC (A2690T +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 41707	NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)	PMS2 (T597S +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GBenign
Select item 12356	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	TP53 (R248Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database

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Items: 37