ClinVar for MedGen (Select 1657285) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1646016	NM_000038.6(APC):c.422+10C>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +5 more	GLikely benign
Select item 1392042	NM_000038.6(APC):c.4430A>G (p.Gln1477Arg)	APC (Q1487R +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +6 more	GUncertain significance
Select item 1321122	NM_000038.6(APC):c.2573T>C (p.Ile858Thr)	APC (I575T +12 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1043177	NM_001127511.3(APC):c.-142G>A	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +5 more	GUncertain significance
Select item 1010774	NM_001127511.3(APC):c.-88T>G	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastric adenocarcinoma and proximal polyposis of the stomach +5 more	GUncertain significance
Select item 955497	NM_000038.6(APC):c.7946C>T (p.Pro2649Leu)	APC (P2489L +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +5 more	GUncertain significance
Select item 946225	NM_000038.6(APC):c.3515A>T (p.His1172Leu)	APC (H1071L +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +6 more	GUncertain significance
Select item 923281	NM_000038.6(APC):c.6218G>A (p.Gly2073Asp)	APC (G1947D +12 more)	Single nucleotide variant (missense variant)	Hepatocellular carcinoma +6 more	GUncertain significance
Select item 822326	NM_000038.6(APC):c.835-17A>G	APC	Single nucleotide variant (intron variant)	Gastric adenocarcinoma and proximal polyposis of the stomach +6 more	GConflicting classifications of pathogenicity
Select item 802132	NM_000038.6(APC):c.423-4dup	APC	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 657803	NM_000038.6(APC):c.3263A>C (p.Lys1088Thr)	APC (K987T +12 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 619767	NM_000038.6(APC):c.2114G>A (p.Ser705Asn)	APC (S687N +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +7 more	GConflicting classifications of pathogenicity
Select item 618532	NM_000038.6(APC):c.4638_4639del (p.Asn1546fs)	APC (N1263fs +12 more)	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 581975	NM_000038.6(APC):c.7097A>G (p.Tyr2366Cys)	APC (Y2366C +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 568688	NM_000038.6(APC):c.3661C>T (p.Pro1221Ser)	APC (P1203S +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +7 more	GConflicting classifications of pathogenicity
Select item 537673	NM_001127511.3(APC):c.-32C>T	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Hepatocellular carcinoma +5 more	GUncertain significance
Select item 490261	NM_000038.6(APC):c.3365A>G (p.Asn1122Ser)	APC (N1104S +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +7 more	GUncertain significance
Select item 489485	NM_000038.6(APC):c.6727A>G (p.Thr2243Ala)	APC (T2225A +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +7 more	GUncertain significance
Select item 489471	NM_000038.6(APC):c.5615T>A (p.Val1872Asp)	APC (V1854D +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +7 more	GUncertain significance
Select item 485090	NM_000038.6(APC):c.3490A>G (p.Ile1164Val)	APC (I1164V +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +6 more	GUncertain significance
Select item 470135	NM_000038.6(APC):c.8282C>T (p.Pro2761Leu)	APC (P2743L +12 more)	Single nucleotide variant (missense variant)	Hepatocellular carcinoma +8 more	GUncertain significance
Select item 470090	NM_000038.6(APC):c.74_75del (p.Gln25fs)	APC (Q25fs)	Deletion (frameshift variant +2 more)	Hepatocellular carcinoma +7 more	GPathogenic
Select item 470078	NM_000038.6(APC):c.7136C>G (p.Thr2379Ser)	APC (T2361S +12 more)	Single nucleotide variant (missense variant)	Hepatocellular carcinoma +8 more	GUncertain significance
Select item 469849	NM_001127511.3(APC):c.-167G>A	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Hepatocellular carcinoma +5 more	GUncertain significance
Select item 469731	NM_000038.6(APC):c.2160G>A (p.Met720Ile)	APC (M702I +12 more)	Single nucleotide variant (missense variant)	Hepatocellular carcinoma +6 more	GUncertain significance
Select item 469700	NM_000038.6(APC):c.1193A>G (p.Lys398Arg)	APC (K380R +6 more)	Single nucleotide variant (missense variant +1 more)	Hepatocellular carcinoma +9 more	GConflicting classifications of pathogenicity
Select item 439411	NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=)	APC	Indel (synonymous variant +1 more)	Familial adenomatous polyposis 1 +6 more	GBenign/Likely benign
Select item 438880	NM_000038.6(APC):c.4813G>A (p.Val1605Met)	APC (V1587M +12 more)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma and proximal polyposis of the stomach +5 more	GUncertain significance
Select item 433656	NM_000038.6(APC):c.3901dup (p.Thr1301fs)	APC (T1200fs +12 more)	Duplication (frameshift variant)	Familial adenomatous polyposis 1 +8 more	GPathogenic/Likely pathogenic
Select item 419482	NM_000038.6(APC):c.813G>A (p.Met271Ile)	APC (M253I +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatocellular carcinoma +9 more	GUncertain significance
Select item 411562	NM_000038.6(APC):c.4332A>T (p.Gln1444His)	APC (Q1426H +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +8 more	GConflicting classifications of pathogenicity
Select item 411500	NM_000038.6(APC):c.5011G>A (p.Ala1671Thr)	APC (A1653T +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +8 more	GUncertain significance
Select item 411486	NM_000038.6(APC):c.8281C>T (p.Pro2761Ser)	APC (P2761S +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 411444	NM_000038.6(APC):c.212G>A (p.Arg71His)	APC (R71H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 411419	NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)	APC (P1467S +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 411335	NM_000038.6(APC):c.776G>A (p.Arg259Gln)	APC (R241Q +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +9 more	GUncertain significance
Select item 350416	NM_000038.6(APC):c.5894A>C (p.His1965Pro)	APC (H1965P +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +9 more	GConflicting classifications of pathogenicity
Select item 243006	NM_001127511.3(APC):c.-192A>G	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 243005	NM_001127511.3(APC):c.-191T>C	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 243004	NM_001127511.2(APC):c.[-125delA;-195A>C]	LOC129994371, APC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastric adenocarcinoma and proximal polyposis of the stomach	GPathogenic
Select item 236617	NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)	APC (N1743T +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GConflicting classifications of pathogenicity
Select item 236610	NM_000038.6(APC):c.4963A>G (p.Thr1655Ala)	APC (T1637A +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 232940	NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)	APC (P2351S +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +9 more	GConflicting classifications of pathogenicity
Select item 230838	NM_000038.6(APC):c.1333C>G (p.Gln445Glu)	APC (Q427E +10 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 229993	NM_000038.6(APC):c.5627G>T (p.Arg1876Met)	APC (R1858M +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GConflicting classifications of pathogenicity
Select item 229743	NM_000038.6(APC):c.1538T>C (p.Val513Ala)	APC (V495A +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 216183	NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)	APC (R2655G +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +8 more	GConflicting classifications of pathogenicity
Select item 216168	NM_000038.6(APC):c.4987G>A (p.Glu1663Lys)	APC (E1645K +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +7 more	GUncertain significance
Select item 215553	NM_000038.6(APC):c.1242C>T (p.Arg414=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 215430	NM_000038.6(APC):c.573T>C (p.Tyr191=)	APC	Single nucleotide variant (synonymous variant +1 more)	Desmoid disease, hereditary +10 more	GBenign/Likely benign
Select item 186722	NM_000038.6(APC):c.7531C>T (p.Leu2511Phe)	APC (L2493F +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +8 more	GConflicting classifications of pathogenicity
Select item 186058	NM_000038.6(APC):c.2805C>G (p.Tyr935Ter)	APC (Y917* +12 more)	Single nucleotide variant (nonsense)	Familial multiple polyposis syndrome +4 more	GPathogenic
Select item 184937	NM_000038.6(APC):c.994C>T (p.Arg332Ter)	APC (R314* +6 more)	Single nucleotide variant (nonsense +1 more)	Familial multiple polyposis syndrome +9 more	GPathogenic
Select item 183078	NM_000038.6(APC):c.3149del (p.Ala1050fs)	APC (A1009fs +12 more)	Deletion (frameshift variant)	not provided +9 more	GPathogenic
Select item 181785	NM_000038.6(APC):c.1241G>A (p.Arg414His)	APC (R396H +10 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 181781	NM_000038.6(APC):c.423-4del	APC	Deletion (intron variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 142010	NM_000038.6(APC):c.2476T>G (p.Leu826Val)	APC (L808V +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
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 140854	NM_000038.6(APC):c.6977G>A (p.Arg2326Gln)	APC (R2308Q +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +4 more	GUncertain significance
Select item 135694	NM_000038.6(APC):c.2658G>T (p.Gln886His)	APC (Q886H +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +6 more	GConflicting classifications of pathogenicity
Select item 133518	NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)	APC (R1153C +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +9 more	GBenign/Likely benign
Select item 132705	NM_000038.6(APC):c.4326T>A (p.Pro1442=)	APC	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign
Select item 127321	NM_000038.6(APC):c.7808A>G (p.Glu2603Gly)	APC (E2603G +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 127294	NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)	APC (A1446T +12 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 127281	NM_000038.6(APC):c.2413C>T (p.Arg805Ter)	APC (R805* +12 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 1 +7 more	GPathogenic OOncogenic
Select item 42242	NM_000038.6(APC):c.4479G>A (p.Thr1493=)	APC	Single nucleotide variant (synonymous variant)	APC-Associated Polyposis Disorders +9 more	GBenign
Select item 41537	NM_000038.6(APC):c.7757G>T (p.Ser2586Ile)	APC (S2586I +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 41511	NM_000038.6(APC):c.6821C>T (p.Ala2274Val)	APC (A2274V +12 more)	Single nucleotide variant (missense variant)	APC-Associated Polyposis Disorders +10 more	GBenign/Likely benign
Select item 823	NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)	APC (E1255fs +12 more)	Deletion (frameshift variant)	Gastric adenocarcinoma and proximal polyposis of the stomach +8 more	GPathogenic
Select item 814	NM_000038.6(APC):c.643C>T (p.Gln215Ter)	APC (Q215* +3 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +8 more	GPathogenic

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Items: 70