"Counsyl"[submitter] AND "APC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 548714	NM_001127511.3(APC):c.-14C>T	APC	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 371825	NM_001127511.3(APC):c.-12T>C	APC	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 548797	NM_001127511.3(APC):c.-5C>A	APC	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 548848	NM_001127511.3(APC):c.1A>T (p.Met1Leu)	APC (M1L)	Single nucleotide variant (missense variant +4 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 371850	NM_001127511.3(APC):c.3G>A (p.Met1Ile)	APC (M1I)	Single nucleotide variant (missense variant +4 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 372042	NM_001127511.3(APC):c.48T>C (p.Ser16=)	APC	Single nucleotide variant (synonymous variant +3 more)	Familial adenomatous polyposis 1	GLikely benign
Select item 371851	NM_001127511.3(APC):c.71C>T (p.Ser24Phe)	APC (S24F)	Single nucleotide variant (missense variant +3 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 133505	NM_001127511.3(APC):c.78C>A (p.Ser26Arg)	APC (S26R)	Single nucleotide variant (missense variant +3 more)	Familial multiple polyposis syndrome +4 more	GBenign
Select item 371984	NM_001127511.3(APC):c.83G>A (p.Gly28Asp)	APC (G28D)	Single nucleotide variant (missense variant +3 more)	APC-related disorder +1 more	GUncertain significance
Select item 133506	NM_001127511.3(APC):c.119G>C (p.Ser40Thr)	APC (S40T)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 1 +1 more	GConflicting classifications of pathogenicity
Select item 371917	NM_001127511.3(APC):c.122C>T (p.Pro41Leu)	APC (P41L)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 1	GConflicting classifications of pathogenicity
Select item 371913	NM_001127511.3(APC):c.124G>A (p.Gly42Ser)	APC (G42S)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 371861	NM_001127511.3(APC):c.125G>A (p.Gly42Asp)	APC (G42D)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 1	GConflicting classifications of pathogenicity
Select item 371859	NM_001127511.3(APC):c.130G>A (p.Ala44Thr)	APC (A44T)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 1 +2 more	GConflicting classifications of pathogenicity
Select item 548852	NM_001127511.3(APC):c.134G>A (p.Arg45His)	APC (R45H)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 548731	NM_001127511.3(APC):c.149G>C (p.Trp50Ser)	APC (W50S)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 371827	NM_001127511.3(APC):c.165+17G>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GUncertain significance
Select item 516825	NM_001127511.3(APC):c.166-29015A>T	APC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 184702	NM_000038.6(APC):c.70C>T (p.Arg24Ter)	APC (R24*)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +10 more	GConflicting classifications of pathogenicity
Select item 202202	NM_000038.6(APC):c.170A>T (p.Asp57Val)	APC (D57V +2 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 372060	NM_000038.6(APC):c.221-16T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GLikely benign
Select item 215555	NM_000038.6(APC):c.228C>T (p.Asn76=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +4 more	GBenign/Likely benign
Select item 135692	NM_000038.6(APC):c.263G>A (p.Arg88Gln)	APC (R88Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 236580	NM_000038.6(APC):c.277C>G (p.Leu93Val)	APC (L103V +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +4 more	GConflicting classifications of pathogenicity
Select item 371803	NM_000038.6(APC):c.280C>A (p.Arg94Ser)	APC (R104S +3 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer +3 more	GConflicting classifications of pathogenicity
Select item 135695	NM_000038.6(APC):c.295C>T (p.Arg99Trp)	APC (R99W +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 181832	NM_000038.6(APC):c.296G>A (p.Arg99Gln)	APC (R109Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 41524	NM_000038.6(APC):c.317G>A (p.Arg106His)	APC (R106H +3 more)	Single nucleotide variant (missense variant +1 more)	Familial multiple polyposis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 185623	NM_000038.6(APC):c.332G>A (p.Ser111Asn)	APC (S111N +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +3 more	GUncertain significance
Select item 41504	NM_000038.6(APC):c.379A>G (p.Ser127Gly)	APC (S127G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 133539	NM_000038.6(APC):c.385G>C (p.Glu129Gln)	APC (E129Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 548810	NM_000038.6(APC):c.388del (p.Ser130fs)	APC (S140fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 41529	NM_000038.6(APC):c.420G>C (p.Glu140Asp)	APC (E140D +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GLikely benign FDA Recognized database
Select item 246235	NM_000038.6(APC):c.422+2T>C	APC	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 1 +2 more	GPathogenic/Likely pathogenic
Select item 371943	NM_000038.6(APC):c.422+19G>C	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 372037	NM_000038.6(APC):c.423-28G>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 141928	NM_000038.6(APC):c.449A>G (p.Lys150Arg)	APC (K150R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 181782	NM_000038.6(APC):c.450A>G (p.Lys150=)	APC	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 236607	NM_000038.6(APC):c.476dup (p.Tyr159Ter)	APC (Y159* +3 more)	Duplication (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 215564	NM_000038.6(APC):c.477C>T (p.Tyr159=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +3 more	GBenign/Likely benign
Select item 232758	NM_000038.6(APC):c.531+1G>C	APC	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 1 +2 more	GPathogenic/Likely pathogenic
Select item 388736	NM_000038.6(APC):c.531+16G>A	APC	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 372028	NM_000038.6(APC):c.532-939G>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 371887	NM_000038.6(APC):c.532-939G>A	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 371961	NM_000038.6(APC):c.532-17A>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +2 more	GLikely benign
Select item 183974	NM_000038.6(APC):c.564A>G (p.Gln188=)	APC	Single nucleotide variant (synonymous variant +1 more)	Classic or attenuated familial adenomatous polyposis +3 more	GConflicting classifications of pathogenicity
Select item 135710	NM_000038.6(APC):c.597G>A (p.Ala199=)	APC	Single nucleotide variant (synonymous variant +1 more)	Classic or attenuated familial adenomatous polyposis +3 more	GBenign/Likely benign
Select item 372063	NM_000038.6(APC):c.646-20G>A	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +2 more	GBenign/Likely benign
Select item 188275	NM_000038.6(APC):c.647G>A (p.Arg216Gln)	APC (R216Q +3 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +5 more	GConflicting classifications of pathogenicity
Select item 184601	NM_000038.6(APC):c.669A>C (p.Gln223His)	APC (Q223H +3 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +4 more	GConflicting classifications of pathogenicity
Select item 41535	NM_000038.6(APC):c.695G>A (p.Arg232Gln)	APC (R232Q +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 220329	NM_000038.6(APC):c.715G>C (p.Ala239Pro)	APC (A239P +3 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 218005	NM_000038.6(APC):c.730-22G>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GLikely benign
Select item 186663	NM_000038.6(APC):c.730-3C>T	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 236647	NM_000038.6(APC):c.757G>A (p.Gly253Ser)	APC (G235S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 411556	NM_000038.6(APC):c.775C>T (p.Arg259Trp)	APC (R241W +5 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +4 more	GConflicting classifications of pathogenicity
Select item 184329	NM_000038.6(APC):c.789T>A (p.Gly263=)	APC	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 372069	NM_000038.6(APC):c.835-20A>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GLikely benign
Select item 381344	NM_000038.6(APC):c.835-15G>A	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 185141	NM_000038.6(APC):c.835-3T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +2 more	GConflicting classifications of pathogenicity
Select item 135725	NM_000038.6(APC):c.836G>T (p.Gly279Val)	APC (G279V +5 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +3 more	GUncertain significance
Select item 142278	NM_000038.6(APC):c.848G>A (p.Arg283Gln)	APC (R265Q +5 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +3 more	GConflicting classifications of pathogenicity
Select item 141276	NM_000038.6(APC):c.854A>G (p.Asp285Gly)	APC (D267G +6 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GConflicting classifications of pathogenicity
Select item 372035	NM_000038.6(APC):c.876G>C (p.Leu292Phe)	APC (L274F +6 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 411498	NM_000038.6(APC):c.895T>A (p.Ser299Thr)	APC (S281T +6 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +2 more	GConflicting classifications of pathogenicity
Select item 181783	NM_000038.6(APC):c.918T>G (p.Ser306Arg)	APC (S288R +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 371831	NM_000038.6(APC):c.933+2T>C	APC	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 1 +1 more	GPathogenic/Likely pathogenic
Select item 371969	NM_000038.6(APC):c.933+16A>G	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 490377	NM_000038.6(APC):c.933+19C>A	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GLikely benign
Select item 548818	NM_000038.6(APC):c.934-21C>A	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 372038	NM_000038.6(APC):c.934-14C>T	APC	Single nucleotide variant (intron variant)	Classic or attenuated familial adenomatous polyposis +4 more	GConflicting classifications of pathogenicity
Select item 186413	NM_000038.6(APC):c.993G>A (p.Ser331=)	APC	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 187754	NM_000038.6(APC):c.995G>A (p.Arg332Gln)	APC (R314Q +6 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 185193	NM_000038.6(APC):c.1121G>A (p.Arg374Gln)	APC (R356Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 797	NM_000038.6(APC):c.1240C>T (p.Arg414Cys)	APC (R414C +10 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 181785	NM_000038.6(APC):c.1241G>A (p.Arg414His)	APC (R396H +10 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 181787	NM_000038.6(APC):c.1291A>G (p.Met431Val)	APC (M413V +10 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +4 more	GConflicting classifications of pathogenicity
Select item 217924	NM_000038.6(APC):c.1312+3A>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +9 more	GPathogenic/Likely pathogenic
Select item 372030	NM_000038.6(APC):c.1312+16T>A	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GLikely benign
Select item 371848	NM_000038.6(APC):c.1409-17T>G	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 136405	NM_000038.6(APC):c.1419G>A (p.Gln473=)	APC	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 132722	NM_000038.6(APC):c.1441G>A (p.Val481Met)	APC (V481M +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +4 more	GUncertain significance
Select item 41518	NM_000038.6(APC):c.1495C>G (p.Arg499Gly)	APC (R499G +12 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 824	NM_000038.6(APC):c.1495C>T (p.Arg499Ter)	APC (R499* +12 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 1 +3 more	GPathogenic
Select item 548863	NM_000038.6(APC):c.1530dup (p.Gly511fs)	APC (G420fs +12 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 371836	NM_000038.6(APC):c.1548+2T>C	APC	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 136406	NM_000038.6(APC):c.1548+17T>C	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 142983	NM_000038.6(APC):c.1571G>C (p.Gly524Ala)	APC (G506A +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 42239	NM_000038.6(APC):c.1635G>A (p.Ala545=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 156480	NM_000038.6(APC):c.1685C>T (p.Thr562Met)	APC (T544M +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +4 more	GConflicting classifications of pathogenicity
Select item 183784	NM_000038.6(APC):c.1686G>A (p.Thr562=)	APC	Single nucleotide variant (synonymous variant)	Classic or attenuated familial adenomatous polyposis +4 more	GBenign/Likely benign
Select item 487422	NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer)	APC	Deletion (nonsense)	Familial adenomatous polyposis 1 +2 more	GPathogenic/Likely pathogenic
Select item 548881	NM_000038.6(APC):c.1744-14_1744-13del	APC	Deletion (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 383468	NM_000038.6(APC):c.1744-14C>A	APC	Single nucleotide variant (intron variant)	Classic or attenuated familial adenomatous polyposis +3 more	GConflicting classifications of pathogenicity
Select item 127278	NM_000038.6(APC):c.1825G>A (p.Val609Ile)	APC (V609I +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 42240	NM_001127510.3(APC):c.1917dup (p.Arg640fs)	APC (R480fs +12 more)	Duplication	Familial adenomatous polyposis 1 +1 more	GLikely pathogenic
Select item 350410	NM_000038.6(APC):c.1958+10G>T	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 548781	NM_000038.6(APC):c.1958+27del	APC	Deletion (intron variant)	Familial adenomatous polyposis 1	GBenign/Likely benign
Select item 232098	NM_000038.6(APC):c.1984C>A (p.Leu662Ile)	APC (L644I +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +3 more	GConflicting classifications of pathogenicity
Select item 216153	NM_000038.6(APC):c.2090C>T (p.Ala697Val)	APC (A679V +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +4 more	GConflicting classifications of pathogenicity

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