ClinVar for PubMed (Select 20663686) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2959575	NM_001048174.2(MUTYH):c.849+1G>A	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2886235	NM_001048174.2(MUTYH):c.127C>T (p.Gln43Ter)	MUTYH (Q15* +8 more)	Single nucleotide variant (nonsense +3 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2861916	NM_001048174.2(MUTYH):c.640del (p.Val214fs)	MUTYH (V221fs +12 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2842908	NM_001048174.2(MUTYH):c.607-2A>C	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2820117	NM_001048174.2(MUTYH):c.1240-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2814784	NM_001048174.2(MUTYH):c.718C>T (p.Gln240Ter)	MUTYH (Q148* +12 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2762101	NM_001048174.2(MUTYH):c.1240-1G>C	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2745343	NM_001048174.2(MUTYH):c.727dup (p.Asp243fs)	MUTYH (D128fs +7 more)	Duplication (non-coding transcript variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2743522	NM_001048174.2(MUTYH):c.928del (p.Gln310fs)	MUTYH (Q195fs +12 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2713341	NM_001048174.2(MUTYH):c.379-4_382del	MUTYH	Deletion (splice acceptor variant +1 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2711516	NM_001048174.2(MUTYH):c.527del (p.Thr176fs)	MUTYH (T183fs +12 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2699650	NM_001048174.2(MUTYH):c.955G>T (p.Glu319Ter)	MUTYH (E227* +12 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2695711	NM_001048174.2(MUTYH):c.304+2T>G	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2673801	NM_001048174.2(MUTYH):c.862C>T (p.Gln288Ter)	MUTYH (Q173* +12 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2125826	NM_001048174.2(MUTYH):c.91C>T (p.Gln31Ter)	MUTYH (Q37* +2 more)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 2	GPathogenic/Likely pathogenic
Select item 2117487	NM_001048174.2(MUTYH):c.1305_1315dup (p.Thr439delinsArgProGlnTer)	MUTYH	Duplication (nonsense +2 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2116350	NM_001048174.2(MUTYH):c.890_891insACTAAGCCTCAGGGAGCCTGTCGGG (p.Ser298fs)	MUTYH (S299fs +7 more)	Insertion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2111074	NM_001048174.2(MUTYH):c.359dup (p.Tyr120Ter)	MUTYH (Y121* +6 more)	Duplication (nonsense +3 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2104911	NM_001048174.2(MUTYH):c.1312del (p.Pro437_Val438insTer)	MUTYH	Deletion (nonsense +2 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2101925	NM_001048174.2(MUTYH):c.184del (p.Asp61_Val62insTer)	MUTYH	Deletion (nonsense +3 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2101386	NM_001048174.2(MUTYH):c.421-1G>A	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2091569	NM_001048174.2(MUTYH):c.-6-2A>T	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2089999	NM_001048174.2(MUTYH):c.102_103insGT (p.Ser35fs)	MUTYH (S35fs +1 more)	Insertion (frameshift variant +2 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2042680	NM_001128425.2(MUTYH):c.27_28del (p.Ser9fs)	MUTYH, TOE1 (S9fs)	Deletion (non-coding transcript variant +2 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2031626	NM_001048174.2(MUTYH):c.1182_1194del (p.Gln394fs)	MUTYH (Q395fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2029897	NM_001128425.2(MUTYH):c.196del (p.Ala66fs)	MUTYH (A49fs +4 more)	Deletion (frameshift variant +2 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2026521	NM_001048174.2(MUTYH):c.230_242del (p.Asp77fs)	MUTYH (D102fs +5 more)	Deletion (frameshift variant +2 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2025765	NM_001128425.2(MUTYH):c.178dup (p.Glu60fs)	MUTYH (E57fs +2 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1992918	NM_001048174.2(MUTYH):c.497dup (p.Glu167fs)	MUTYH (E168fs +7 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1769939	NM_001048174.2(MUTYH):c.1239+1G>A	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2 +1 more	GPathogenic
Select item 1748677	NM_001048174.2(MUTYH):c.1121G>A (p.Trp374Ter)	MUTYH (W381* +12 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1741959	NM_001048174.2(MUTYH):c.378+1del	MUTYH	Deletion (splice donor variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely pathogenic
Select item 1692575	NM_001048174.2(MUTYH):c.364dup (p.Thr122fs)	MUTYH (T122fs +6 more)	Duplication (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1692571	NM_001048174.2(MUTYH):c.1341G>A (p.Trp447Ter)	MUTYH (W332* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1692569	NM_001048174.2(MUTYH):c.1046del (p.Leu349fs)	MUTYH (L234fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1515203	NC_000001.10:g.(?_45800053)_(45800193_?)dup	MUTYH	Duplication	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 1490948	NM_001048174.2(MUTYH):c.695_705-10del	MUTYH	Deletion (splice donor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 1483650	NM_001048174.2(MUTYH):c.1434+2del	MUTYH	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 1459595	NM_001048174.2(MUTYH):c.627del (p.Asn210fs)	MUTYH (N221fs +7 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1455631	NM_001048174.2(MUTYH):c.684_702dup (p.Trp235fs)	MUTYH (W120fs +7 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1455307	NC_000001.10:g.(?_45805881)_(45809328_?)del	MUTYH, TOE1	Deletion	Familial adenomatous polyposis 2	GPathogenic
Select item 1455088	NM_001048174.2(MUTYH):c.228C>G (p.Tyr76Ter)	MUTYH (Y104* +5 more)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1454604	NM_001048174.2(MUTYH):c.1185del (p.Glu395fs)	MUTYH (E303fs +7 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1452003	NM_001048174.2(MUTYH):c.1160_1167dup (p.Lys390fs)	MUTYH (K275fs +7 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1451389	NM_001048174.2(MUTYH):c.317_318del (p.Glu106fs)	MUTYH (E131fs +6 more)	Microsatellite (frameshift variant +2 more)	Familial adenomatous polyposis 2 +1 more	GPathogenic/Likely pathogenic
Select item 1441468	NM_001048174.2(MUTYH):c.685del (p.Val230fs)	MUTYH (V230fs +7 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1436665	NM_001048174.2(MUTYH):c.300T>A (p.Tyr100Ter)	MUTYH (Y101* +7 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic
Select item 1408238	NM_001048174.2(MUTYH):c.1276C>T (p.Gln426Ter)	MUTYH (Q427* +7 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1395788	NM_001048174.2(MUTYH):c.136del (p.Glu46fs)	MUTYH (E57fs +5 more)	Deletion (frameshift variant +3 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1374111	NM_001048174.2(MUTYH):c.779_780del (p.Thr260fs)	MUTYH (T168fs +7 more)	Microsatellite (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1368442	NM_001048174.2(MUTYH):c.541C>T (p.Gln181Ter)	MUTYH (Q206* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1356072	NM_001128425.2(MUTYH):c.177_178insCA (p.Glu60fs)	MUTYH (E57fs +2 more)	Insertion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1352487	NM_001048174.2(MUTYH):c.409del (p.Ala137fs)	MUTYH (A137fs +7 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1348024	NM_001048174.2(MUTYH):c.913+1G>A	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 1076845	NM_001048174.2(MUTYH):c.376_377del (p.Gln126fs)	MUTYH (Q126fs +6 more)	Deletion (frameshift variant +2 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1075894	NM_001048174.2(MUTYH):c.310dup (p.Val104fs)	MUTYH (V104fs +6 more)	Duplication (frameshift variant +2 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1072724	NM_001048174.2(MUTYH):c.914-1G>T	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2 +1 more	GPathogenic/Likely pathogenic
Select item 1070581	NM_001048174.2(MUTYH):c.148C>T (p.Gln50Ter)	MUTYH (Q50* +5 more)	Single nucleotide variant (nonsense +3 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1070115	NM_001048174.2(MUTYH):c.507del (p.Gly171fs)	MUTYH (G171fs +7 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1069525	NM_001048174.2(MUTYH):c.775dup (p.Ala259fs)	MUTYH (A144fs +7 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1068517	NM_001048174.2(MUTYH):c.811C>T (p.Gln271Ter)	MUTYH (Q156* +7 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 1067948	NM_001048174.2(MUTYH):c.1240-1G>A	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 1067462	NM_001048174.2(MUTYH):c.607-2A>T	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 1067242	NM_001048174.2(MUTYH):c.849+1G>T	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 1066756	NM_001048174.2(MUTYH):c.493-1G>A	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 959701	NM_025077.4(TOE1):c.-4_3dup (p.Ala2fs)	MUTYH, TOE1 (P3fs +1 more)	Duplication (frameshift variant +3 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 953438	NM_001048174.2(MUTYH):c.371G>A (p.Trp124Ter)	MUTYH (W135* +6 more)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 2 +1 more	GPathogenic
Select item 947743	NM_001048174.2(MUTYH):c.1275T>G (p.Tyr425Ter)	MUTYH (Y310* +7 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 942834	NM_001048174.2(MUTYH):c.705-2A>C	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 942157	NM_001048174.2(MUTYH):c.115+1G>A	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2 +1 more	GConflicting classifications of pathogenicity
Select item 940848	NM_001048174.2(MUTYH):c.1239+1G>T	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 859310	NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)	MUTYH (Y56* +5 more)	Single nucleotide variant (nonsense +3 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 854670	NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs)	MUTYH (S44fs +1 more)	Deletion (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 822727	NM_001048174.2(MUTYH):c.793C>T (p.Gln265Ter)	MUTYH (Q276* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 818408	NM_001048174.2(MUTYH):c.1051C>T (p.Gln351Ter)	MUTYH (Q376* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 801228	NM_001048174.2(MUTYH):c.437G>A (p.Trp146Ter)	MUTYH (W171* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 663501	NM_001048174.2(MUTYH):c.1134del (p.Ser378_Val379insTer)	MUTYH	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 662131	NM_001048174.2(MUTYH):c.549_576del (p.Leu184fs)	MUTYH (L92fs +7 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 660585	NM_001048174.2(MUTYH):c.1393-2_1393-1del	MUTYH	Deletion (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 657663	NM_001048174.2(MUTYH):c.192dup (p.Val65fs)	MUTYH (V76fs +5 more)	Duplication (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 654529	NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter)	MUTYH (Q419* +7 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 648550	NM_001048174.2(MUTYH):c.-6-95_42delinsC	MUTYH	Indel (splice acceptor variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 646649	NM_001048174.2(MUTYH):c.264+1G>A	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 641274	NM_001048174.2(MUTYH):c.704G>A (p.Trp235Ter)	MUTYH (W236* +7 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 631361	NM_001048174.2(MUTYH):c.210del (p.Ser71fs)	MUTYH (S71fs +5 more)	Deletion (frameshift variant +2 more)	Familial adenomatous polyposis 2 +1 more	GPathogenic
Select item 630488	NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter)	MUTYH (W113* +5 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 582666	NM_001128425.2(MUTYH):c.178G>T (p.Glu60Ter)	MUTYH (E60* +2 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 581889	NM_001048174.2(MUTYH):c.607-1G>A	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 569689	NM_001048174.2(MUTYH):c.887C>A (p.Ser296Ter)	MUTYH (S324* +7 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 565890	NM_001048174.2(MUTYH):c.705G>A (p.Trp235Ter)	MUTYH (W263* +7 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 560804	NM_001048174.2(MUTYH):c.-6-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GLikely pathogenic
Select item 555262	NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter)	MUTYH (Q29* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 2 +1 more	GPathogenic/Likely pathogenic
Select item 554017	NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter)	MUTYH (Q187* +8 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 533306	NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs)	MUTYH (W307fs +7 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2 +1 more	GPathogenic/Likely pathogenic
Select item 496103	NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)	MUTYH	Deletion (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 491999	NM_001048174.2(MUTYH):c.1017del (p.Arg340fs)	MUTYH (R368fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 487453	NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter)	MUTYH (E104* +6 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 485909	NM_001048174.2(MUTYH):c.224G>A (p.Trp75Ter)	MUTYH (W103* +5 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 485907	NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter)	MUTYH (S83* +6 more)	Single nucleotide variant (nonsense +3 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 485902	NM_001128425.2(MUTYH):c.36+1G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +2 more	GLikely pathogenic

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