Related gene-specific medical variations for Gene (Select 10297) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068058	NM_005883.3(APC2):c.4603C>T (p.Arg1535Cys)	APC2 (R1534C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 74	GUncertain significance
Select item 3031505	NM_005883.3(APC2):c.5805G>A (p.Arg1935=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	APC2-related condition	GLikely benign
Select item 3030049	NM_005883.3(APC2):c.5841A>G (p.Ala1947=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	APC2-related condition	GLikely benign
Select item 2899929	NM_005883.3(APC2):c.5877C>A (p.Thr1959=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880747	NM_005883.3(APC2):c.5700G>A (p.Leu1900=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872969	NM_005883.3(APC2):c.523-13C>T	APC2, LOC130062953	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872330	NM_005883.3(APC2):c.640-17C>G	APC2, LOC130062955	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868288	NM_005883.3(APC2):c.640-20C>A	APC2, LOC130062955	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866534	NM_005883.3(APC2):c.5745C>A (p.Thr1915=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787127	NM_005883.3(APC2):c.5829G>A (p.Pro1943=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648933	NM_005883.3(APC2):c.5785C>A (p.Arg1929=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648932	NM_005883.3(APC2):c.5784G>A (p.Val1928=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648931	NM_005883.3(APC2):c.5721G>T (p.Pro1907=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648922	NC_000019.10:g.1450086C>T	APC2, LOC130062952	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 2620629	NM_005883.3(APC2):c.647C>T (p.Ala216Val)	APC2, LOC130062955 (A216V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2576166	NM_005883.3(APC2):c.4031G>A (p.Arg1344Gln)	APC2 (R1343Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575968	NM_005883.3(APC2):c.6344T>C (p.Val2115Ala)	APC2 (V2114A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2551631	NM_005883.3(APC2):c.5797A>G (p.Met1933Val)	APC2, LOC130062956 (M1932V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495162	NM_005883.3(APC2):c.6215C>T (p.Pro2072Leu)	APC2, LOC130062957 (P2071L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441668	NM_005883.3(APC2):c.3241C>G (p.Arg1081Gly)	APC2 (R1080G +1 more)	Single nucleotide variant (missense variant)	Cortical dysplasia, complex, with other brain malformations 10	GUncertain significance
Select item 2439145	NM_005883.3(APC2):c.5770C>A (p.Gln1924Lys)	LOC130062956, APC2 (Q1923K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439144	NM_005883.3(APC2):c.4402C>T (p.Pro1468Ser)	APC2 (P1467S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439143	NM_005883.3(APC2):c.4660G>C (p.Ala1554Pro)	APC2 (A1553P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439142	NM_005883.3(APC2):c.2392_2395dup (p.Pro799fs)	APC2 (P798fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2434404	NM_005883.3(APC2):c.6638_6640delinsCT (p.Glu2213fs)	APC2 (E2212fs +1 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 2411292	NM_005883.3(APC2):c.5837G>A (p.Arg1946Gln)	APC2, LOC130062956 (R1945Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385117	NM_005883.3(APC2):c.6199A>C (p.Ser2067Arg)	APC2, LOC130062957 (S2066R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328878	NM_005883.3(APC2):c.5836C>G (p.Arg1946Gly)	APC2, LOC130062956 (R1946G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319171	NM_005883.3(APC2):c.6221G>T (p.Arg2074Leu)	LOC130062957, APC2 (R2073L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294547	NM_005883.3(APC2):c.5818G>A (p.Gly1940Arg)	APC2, LOC130062956 (G1939R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265108	NM_005883.3(APC2):c.5750T>C (p.Leu1917Pro)	APC2, LOC130062956 (L1916P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243146	NM_005883.3(APC2):c.599A>G (p.Glu200Gly)	APC2, LOC130062954 (E199G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225267	NM_005883.3(APC2):c.6209A>C (p.Glu2070Ala)	APC2, LOC130062957 (E2070A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199748	NM_005883.3(APC2):c.5727C>G (p.Pro1909=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2149754	NM_005883.3(APC2):c.6196C>G (p.Pro2066Ala)	APC2, LOC130062957 (P2065A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2128401	NM_005883.3(APC2):c.5739G>A (p.Ala1913=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106512	NM_005883.3(APC2):c.614C>G (p.Ser205Trp)	APC2, LOC130062954 (S204W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985033	NM_005883.3(APC2):c.640-9C>T	APC2, LOC130062955	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977215	NM_005883.3(APC2):c.530C>T (p.Ser177Leu)	APC2, LOC130062953 (S176L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976599	NM_005883.3(APC2):c.5705G>A (p.Gly1902Asp)	APC2, LOC130062956 (G1901D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973394	NM_005883.3(APC2):c.639+18dup	APC2, LOC130062954	Duplication (intron variant)	not provided	GBenign
Select item 1973097	NM_005883.3(APC2):c.523-7T>C	APC2, LOC130062953	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971943	NM_005883.3(APC2):c.523-15G>T	APC2, LOC130062953	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1810528	NM_005883.3(APC2):c.5738C>T (p.Ala1913Val)	APC2, LOC130062956 (A1912V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1707081	NM_005883.3(APC2):c.676C>A (p.Leu226Met)	APC2, LOC130062955 (L225M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640707	NM_005883.3(APC2):c.6230C>G (p.Thr2077Ser)	APC2, LOC130062957 (T2076S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1397422	NM_005883.3(APC2):c.5722G>C (p.Val1908Leu)	APC2, LOC130062956 (V1907L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1327266	NM_005883.3(APC2):c.5730A>G (p.Lys1910=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1184368	NM_005883.3(APC2):c.3011T>G (p.Leu1004Arg)	APC2 (L1003R +1 more)	Single nucleotide variant (missense variant)	Cortical dysplasia, complex, with other brain malformations 10	GUncertain significance
Select item 1033035	NM_005883.3(APC2):c.5772G>C (p.Gln1924His)	APC2, LOC130062956 (Q1923H +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 74	GUncertain significance
Select item 916556	NM_005883.3(APC2):c.665T>C (p.Ile222Thr)	APC2, LOC130062955 (I221T +1 more)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
Select item 780497	NM_005883.3(APC2):c.5793G>A (p.Pro1931=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768949	NM_005883.3(APC2):c.5778G>A (p.Ser1926=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 753594	NM_005883.3(APC2):c.5733G>A (p.Thr1911=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741333	NM_005883.3(APC2):c.6207C>G (p.Gly2069=)	APC2, LOC130062957	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738968	NM_005883.3(APC2):c.5823G>A (p.Pro1941=)	LOC130062956, APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734231	NM_005883.3(APC2):c.5706C>T (p.Gly1902=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	APC2-related condition +1 more	GLikely benign
Select item 723605	NM_005883.3(APC2):c.5811C>G (p.Ala1937=)	APC2, LOC130062956	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714160	NM_005883.3(APC2):c.6204T>C (p.Pro2068=)	APC2, LOC130062957	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591826	NM_005883.3(APC2):c.882_883delinsAG (p.Leu295Val)	APC2 (L294V +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 591695	NM_005883.3(APC2):c.4225_4226delinsAC (p.Glu1409Thr)	APC2 (E1409T +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 591585	NM_005883.3(APC2):c.989_1000del (p.Gly330_Gly333del)	APC2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 591529	NM_005883.3(APC2):c.3746G>A (p.Arg1249His)	APC2 (R1249H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591168	NM_005883.3(APC2):c.2695G>T (p.Glu899Ter)	APC2 (E899* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591010	NM_005883.3(APC2):c.267_268delinsAG (p.Lys90Glu)	APC2 (K90E)	Indel (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 65