Related gene-specific medical variations for Gene (Select 324) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359893	NM_000038.6(APC):c.4975G>A (p.Asp1659Asn)	APC (D1275N +18 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3246391	NC_000005.9:g.(?_112071797)_(112137006_?)dup	APC	Duplication	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 3246390	NC_000005.9:g.(?_112104310)_(112154750_?)del	APC	Deletion	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 3246389	NC_000005.9:g.(?_112099597)_(112162856_?)del	APC	Deletion	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 3246388	NC_000005.9:g.(?_112168952)_(112177247_?)del	APC	Deletion	Familial adenomatous polyposis 1	GPathogenic
Select item 3246385	NC_000005.9:g.(?_112175028)_(112177720_?)del	APC	Deletion	Familial adenomatous polyposis 1	GPathogenic
Select item 3246382	NC_000005.9:g.(?_112172329)_(112173920_?)del	APC	Deletion	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 3246381	NC_000005.9:g.(?_112090588)_(112112916_?)dup	APC	Duplication	Familial adenomatous polyposis 1	GUncertain significance
Select item 3246380	NC_000005.9:g.(?_112043102)_(112112047_?)del	APC	Deletion	Familial adenomatous polyposis 1	GPathogenic
Select item 3246379	NC_000005.9:g.(?_112136966)_(112155051_?)del	APC	Deletion	Familial adenomatous polyposis 1	GPathogenic
Select item 3246378	NC_000005.9:g.(?_112162795)_(112163713_?)del	APC	Deletion	Familial adenomatous polyposis 1	GPathogenic
Select item 3246377	NC_000005.9:g.(?_112157583)_(112179823_?)del	APC	Deletion	Familial adenomatous polyposis 1	GPathogenic
Select item 3246376	NC_000005.9:g.(?_112151175)_(112151300_?)del	APC	Deletion	Familial adenomatous polyposis 1	GUncertain significance
Select item 3246374	NC_000005.9:g.(?_112090588)_(112090732_?)del	APC	Deletion	Familial adenomatous polyposis 1	GPathogenic
Select item 3242262	NM_000038.6(APC):c.245dup (p.Gly84fs)	APC (G25fs +3 more)	Duplication (frameshift variant +2 more)	Familial adenomatous polyposis 1	GPathogenic
Select item 3240296	NM_000038.6(APC):c.239G>T (p.Ser80Ile)	APC (S21I +3 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240288	NM_000038.6(APC):c.1822G>A (p.Ala608Thr)	APC (A224T +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240264	NM_000038.6(APC):c.5956C>T (p.Pro1986Ser)	APC (P1602S +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240259	NM_000038.6(APC):c.788G>A (p.Gly263Asp)	APC (G204D +5 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240254	NM_000038.6(APC):c.6472C>T (p.Pro2158Ser)	APC (P1774S +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240251	NM_000038.6(APC):c.2425A>T (p.Asn809Tyr)	APC (N425Y +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240245	NM_000038.6(APC):c.3562C>T (p.Pro1188Ser)	APC (P1028S +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240243	NM_000038.6(APC):c.6902G>T (p.Arg2301Ile)	APC (R1917I +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240221	NM_000038.6(APC):c.2966A>T (p.Asp989Val)	APC (D1007V +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240197	NM_000038.6(APC):c.5494G>C (p.Asp1832His)	APC (D1448H +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240179	NM_000038.6(APC):c.6761A>G (p.Lys2254Arg)	APC (K1870R +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240177	NM_000038.6(APC):c.883delinsTAC (p.Ser295fs)	APC (S12fs +6 more)	Indel (frameshift variant +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 3240170	NM_000038.6(APC):c.187T>C (p.Ser63Pro)	APC (S38P +3 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240158	NM_000038.6(APC):c.7499A>T (p.Gln2500Leu)	APC (Q2116L +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240156	NM_000038.6(APC):c.2116A>G (p.Met706Val)	APC (M322V +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240110	NM_000038.6(APC):c.347G>T (p.Gly116Val)	APC (G116V +3 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240061	NM_000038.6(APC):c.7690T>C (p.Trp2564Arg)	APC (W2180R +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240016	NM_000038.6(APC):c.7460C>G (p.Ser2487Cys)	APC (S2103C +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240015	NM_000038.6(APC):c.578_584delinsTAAGGCT (p.Ala193_Gln195delinsValArgLeu)	APC	Indel (missense variant +2 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240010	NM_000038.6(APC):c.7007del (p.Ile2336fs)	APC (I1952fs +18 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 3240005	NM_000038.6(APC):c.8114A>T (p.Asn2705Ile)	APC (N2321I +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3240000	NM_000038.6(APC):c.4441G>C (p.Val1481Leu)	APC (V1097L +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3239980	NM_000038.6(APC):c.8287A>G (p.Ser2763Gly)	APC (S2379G +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3239839	NM_000038.6(APC):c.5390A>C (p.Asn1797Thr)	APC (N1413T +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3239814	NM_000038.6(APC):c.3758C>G (p.Ser1253Cys)	APC (S1093C +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3239810	NM_000038.6(APC):c.3808T>C (p.Cys1270Arg)	APC (C1110R +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3239806	NM_000038.6(APC):c.8272G>C (p.Glu2758Gln)	APC (E2374Q +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3239797	NM_000038.6(APC):c.3145_3153del (p.Trp1049_Arg1051del)	APC	Deletion (inframe_deletion +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3239718	NM_000038.6(APC):c.2271_2274del (p.Lys758fs)	APC (K374fs +18 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 1	GPathogenic
Select item 3064982	NM_000038.6(APC):c.3873_3877del (p.Gln1291fs)	APC (Q1008fs +18 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 3064537	NM_000038.6(APC):c.1700del (p.Gly567fs)	APC (G183fs +18 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2739242	NM_001127511.3(APC):c.-213A>C	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2693367	NM_001127511.3(APC):c.-191T>A	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2688586	NM_000038.6(APC):c.2293G>A (p.Asp765Asn)	APC (D381N +18 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688585	NM_000038.6(APC):c.7217A>T (p.Asn2406Ile)	APC (N2022I +18 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683909	NM_000038.6(APC):c.7658_7661dup (p.His2554fs)	APC (H2170fs +18 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2682148	NM_000038.6(APC):c.350del (p.Ser117fs)	APC (S117fs +3 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2682144	NM_000038.6(APC):c.3164T>C (p.Ile1055Thr)	APC (I1014T +18 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682135	NM_000038.6(APC):c.2901C>G (p.Val967=)	APC	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2681902	NM_000038.6(APC):c.1903G>A (p.Gly635Arg)	APC (G251R +18 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2681845	NM_000038.6(APC):c.1436T>C (p.Leu479Ser)	APC (L196S +18 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681833	NM_000038.6(APC):c.7160A>C (p.Asn2387Thr)	APC (N2003T +18 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2681816	NM_000038.6(APC):c.4547T>C (p.Ile1516Thr)	APC (I1132T +18 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2681814	NM_000038.6(APC):c.442C>G (p.Leu148Val)	APC (L123V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2678184	NM_000038.6(APC):c.5026A>T (p.Arg1676Ter)	APC (R1292* +18 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2678183	NM_000038.6(APC):c.6150_6153del (p.Lys2051fs)	APC (K1667fs +18 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2678181	NM_000038.6(APC):c.2173_2186del (p.Ala725fs)	APC (A341fs +18 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2678179	NM_000038.6(APC):c.6426dup (p.Ser2143fs)	APC (S1759fs +18 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2678177	NM_000038.6(APC):c.3581C>G (p.Ser1194Ter)	APC (S1034* +18 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial adenomatous polyposis 1	GPathogenic
Select item 2678170	NM_000038.6(APC):c.1397_1398insA (p.Met466fs)	APC (M183fs +12 more)	Insertion (frameshift variant +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2678166	NM_000038.6(APC):c.7403C>G (p.Ser2468Ter)	APC (S2084* +18 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2678153	NM_000038.6(APC):c.6652C>T (p.Gln2218Ter)	APC (Q1834* +18 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2678146	NM_000038.6(APC):c.4961C>T (p.Ala1654Val)	APC (A1270V +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2678133	NM_000038.6(APC):c.3715A>T (p.Arg1239Ter)	APC (R1079* +18 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2678100	NM_000038.6(APC):c.41A>T (p.Glu14Val)	APC (E14V)	Single nucleotide variant (intron variant +3 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2678067	NM_000038.6(APC):c.2540A>G (p.Glu847Gly)	APC (E463G +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2678056	NM_000038.6(APC):c.5087G>A (p.Ser1696Asn)	APC (S1312N +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2678047	NM_000038.6(APC):c.1628T>C (p.Val543Ala)	APC (V159A +18 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2678046	NM_000038.6(APC):c.3806T>G (p.Ile1269Arg)	APC (I1109R +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2678015	NM_000038.6(APC):c.6745A>C (p.Lys2249Gln)	APC (K1865Q +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677996	NM_000038.6(APC):c.3238G>A (p.Glu1080Lys)	APC (E1021K +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 2677981	NM_000038.6(APC):c.2429G>C (p.Arg810Thr)	APC (R426T +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677936	NM_000038.6(APC):c.5724T>G (p.Asn1908Lys)	APC (N1524K +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677935	NM_000038.6(APC):c.2382T>G (p.Ser794Arg)	APC (S410R +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677929	NM_000038.6(APC):c.8121del (p.Asn2708fs)	APC (N2324fs +18 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677907	NM_000038.6(APC):c.806T>C (p.Ile269Thr)	APC (I210T +5 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677896	NM_000038.6(APC):c.441T>A (p.Asp147Glu)	APC (D122E +3 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677833	NM_000038.6(APC):c.2519G>A (p.Ser840Asn)	APC (S456N +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677827	NM_000038.6(APC):c.3483T>G (p.Asn1161Lys)	APC (N1001K +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677596	NM_000038.6(APC):c.8077A>G (p.Asn2693Asp)	APC (N2309D +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677580	NM_000038.6(APC):c.4243A>C (p.Ser1415Arg)	APC (S1031R +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677572	NM_000038.6(APC):c.4550A>T (p.Gln1517Leu)	APC (Q1133L +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677565	NM_000038.6(APC):c.607C>A (p.Gln203Lys)	APC (Q144K +3 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677520	NM_000038.6(APC):c.7563A>C (p.Arg2521Ser)	APC (R2137S +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677456	NM_000038.6(APC):c.5234A>G (p.Lys1745Arg)	APC (K1361R +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677429	NM_000038.6(APC):c.4292dup (p.Met1431fs)	APC (M1047fs +18 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2677427	NM_000038.6(APC):c.8021C>T (p.Ser2674Phe)	APC (S2290F +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677409	NM_000038.6(APC):c.223C>A (p.Leu75Ile)	APC (L16I +3 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677360	NM_000038.6(APC):c.2512A>T (p.Arg838Ter)	APC (R454* +18 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2677340	NM_000038.6(APC):c.4792_4801del (p.Ala1598fs)	APC (A1214fs +18 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2677331	NM_000038.6(APC):c.7697G>C (p.Arg2566Thr)	APC (R2437T +18 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677309	NM_000038.6(APC):c.2173G>C (p.Ala725Pro)	APC (A341P +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677291	NM_000038.6(APC):c.1207G>T (p.Glu403Ter)	APC (E120* +6 more)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2677255	NM_000038.6(APC):c.2117T>G (p.Met706Arg)	APC (M322R +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2677196	NM_000038.6(APC):c.5882T>G (p.Val1961Gly)	APC (V1577G +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance

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