ClinVar for Gene (Select 10297) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 840

<< First< Prev

Page of 9

	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 3067239	NM_005883.3(APC2):c.810C>T (p.Asn270=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063623	NM_005883.3(APC2):c.2383G>A (p.Glu795Lys)	APC2 (E794K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057693	NM_005883.3(APC2):c.1638+1G>C	APC2	Single nucleotide variant (splice donor variant)	APC2-related condition	GLikely pathogenic
Select item 3057530	NM_005883.3(APC2):c.1743G>C (p.Leu581=)	APC2	Single nucleotide variant (synonymous variant)	APC2-related condition	GLikely benign
Select item 3056888	NM_005883.3(APC2):c.471T>G (p.Ser157=)	APC2	Single nucleotide variant (synonymous variant)	APC2-related condition	GLikely benign
Select item 3054803	NM_005883.3(APC2):c.3840G>C (p.Ala1280=)	APC2	Single nucleotide variant (synonymous variant)	APC2-related condition	GLikely benign
Select item 3052969	NM_005883.3(APC2):c.1593G>A (p.Ala531=)	APC2	Single nucleotide variant (synonymous variant)	APC2-related condition	GLikely benign
Select item 3049371	NM_005883.3(APC2):c.978C>T (p.Ala326=)	APC2	Single nucleotide variant (synonymous variant)	APC2-related condition	GLikely benign
Select item 3046906	NM_005883.3(APC2):c.2919C>T (p.Gly973=)	APC2	Single nucleotide variant (synonymous variant)	APC2-related condition	GLikely benign
Select item 3039877	NM_005883.3(APC2):c.3915C>T (p.Gly1305=)	APC2	Single nucleotide variant (synonymous variant)	APC2-related condition	GLikely benign
Select item 3039167	NM_005883.3(APC2):c.6642C>G (p.Pro2214=)	APC2	Single nucleotide variant (synonymous variant)	APC2-related condition	GLikely benign
Select item 3035542	NM_005883.3(APC2):c.5160C>T (p.Phe1720=)	APC2	Single nucleotide variant (synonymous variant)	APC2-related condition	GLikely benign
Select item 3034654	NM_005883.3(APC2):c.1005A>T (p.Pro335=)	APC2	Single nucleotide variant (synonymous variant)	APC2-related condition	GLikely benign
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 3026647	NM_005883.3(APC2):c.1227G>C (p.Pro409=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026544	NM_005883.3(APC2):c.2787C>T (p.Ser929=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026224	NM_005883.3(APC2):c.4416C>T (p.Pro1472=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016256	NM_005883.3(APC2):c.912C>T (p.Ser304=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013162	NM_005883.3(APC2):c.6909A>G (p.Glu2303=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981772	NM_005883.3(APC2):c.1398G>A (p.Ala466=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977212	NM_005883.3(APC2):c.4191G>A (p.Pro1397=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976803	NM_005883.3(APC2):c.6585G>A (p.Glu2195=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972900	NM_005883.3(APC2):c.1694_1695del (p.Thr565fs)	APC2 (T565fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2921002	NM_005883.3(APC2):c.966C>G (p.His322Gln)	APC2 (H321Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906379	NM_005883.3(APC2):c.6762G>C (p.Gly2254=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904429	NM_005883.3(APC2):c.2880G>T (p.Gly960=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902208	NM_005883.3(APC2):c.5535G>A (p.Arg1845=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900740	NM_005883.3(APC2):c.5322A>G (p.Pro1774=)	APC2	Single nucleotide variant (synonymous variant)	not provided	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 2892768	NM_005883.3(APC2):c.4011C>T (p.Asp1337=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888312	NM_005883.3(APC2):c.2124C>T (p.Ala708=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883694	NM_005883.3(APC2):c.1188G>A (p.Glu396=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883332	NM_005883.3(APC2):c.429T>C (p.Asn143=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881229	NM_005883.3(APC2):c.1972C>T (p.Arg658Cys)	APC2 (R657C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2880581	NM_005883.3(APC2):c.6678C>T (p.Leu2226=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880420	NM_005883.3(APC2):c.1120C>T (p.Leu374=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879367	NM_005883.3(APC2):c.3003C>T (p.His1001=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878839	NM_005883.3(APC2):c.2175G>A (p.Ala725=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877140	NM_005883.3(APC2):c.816+9dup	APC2	Duplication (intron variant)	not provided	GBenign
Select item 2876629	NM_005883.3(APC2):c.882G>C (p.Thr294=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874910	NM_005883.3(APC2):c.3444G>A (p.Ser1148=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874515	NM_005883.3(APC2):c.1128G>A (p.Gln376=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874308	NM_005883.3(APC2):c.4287C>G (p.Thr1429=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873957	NM_005883.3(APC2):c.6725_6733del (p.Ala2242_Phe2244del)	APC2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2873956	NM_005883.3(APC2):c.4990G>A (p.Gly1664Arg)	APC2 (G1664R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873041	NM_005883.3(APC2):c.804G>A (p.Pro268=)	APC2	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 2872685	NM_005883.3(APC2):c.6621G>A (p.Pro2207=)	APC2	Single nucleotide variant (synonymous 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 2871654	NM_005883.3(APC2):c.1207+16G>T	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871595	NM_005883.3(APC2):c.1935G>C (p.Ala645=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871144	NM_005883.3(APC2):c.2931G>A (p.Glu977=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870611	NM_005883.3(APC2):c.1092G>T (p.Ala364=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870386	NM_005883.3(APC2):c.3000G>A (p.Gln1000=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870051	NM_005883.3(APC2):c.717+9T>G	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869440	NM_005883.3(APC2):c.1626G>A (p.Leu542=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869138	NM_005883.3(APC2):c.1853+18dup	APC2	Duplication (intron variant)	not provided	GBenign
Select item 2869014	NM_005883.3(APC2):c.1854-18C>T	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869005	NM_005883.3(APC2):c.6804C>T (p.Ala2268=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868444	NM_005883.3(APC2):c.1638+17C>T	APC2	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 2868132	NM_005883.3(APC2):c.1638+18G>A	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867985	NM_005883.3(APC2):c.6801G>A (p.Ser2267=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867984	NM_005883.3(APC2):c.2967C>T (p.Arg989=)	APC2	Single nucleotide variant (synonymous 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 2863541	NM_005883.3(APC2):c.1521+4C>T	APC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2841921	NM_005883.3(APC2):c.3159G>A (p.Lys1053=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818944	NM_005883.3(APC2):c.1272T>C (p.Asp424=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814172	NM_005883.3(APC2):c.717+14C>A	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811407	NM_005883.3(APC2):c.816+13del	APC2	Deletion (intron variant)	not provided	GLikely benign
Select item 2807981	NM_005883.3(APC2):c.1853+17C>G	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806520	NM_005883.3(APC2):c.413+15G>A	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800148	NM_005883.3(APC2):c.3617T>C (p.Met1206Thr)	APC2 (M1205T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800022	NM_005883.3(APC2):c.3423C>T (p.Asp1141=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799603	NM_005883.3(APC2):c.501C>T (p.Asp167=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795841	NM_005883.3(APC2):c.1221C>T (p.Ile407=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794653	NM_005883.3(APC2):c.332A>G (p.His111Arg)	APC2 (H111R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794237	NM_005883.3(APC2):c.6494C>T (p.Thr2165Met)	APC2 (T2164M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791609	NM_005883.3(APC2):c.6414G>A (p.Arg2138=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791071	NM_005883.3(APC2):c.6143C>A (p.Ala2048Glu)	APC2 (A2047E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790913	NM_005883.3(APC2):c.3696G>A (p.Gln1232=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790777	NM_005883.3(APC2):c.1086C>A (p.Gly362=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789782	NM_005883.3(APC2):c.1635C>A (p.Thr545=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788167	NM_005883.3(APC2):c.4950C>A (p.Arg1650=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787349	NM_005883.3(APC2):c.1560C>T (p.Ala520=)	APC2	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 2787115	NM_005883.3(APC2):c.2556G>A (p.Ala852=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785369	NM_005883.3(APC2):c.2774A>G (p.Asp925Gly)	APC2 (D924G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781873	NM_005883.3(APC2):c.3429G>A (p.Thr1143=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781755	NM_005883.3(APC2):c.1485G>A (p.Val495=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779647	NM_005883.3(APC2):c.1527G>A (p.Val509=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777773	NM_005883.3(APC2):c.5166C>A (p.Ser1722=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776568	NM_005883.3(APC2):c.1917G>T (p.Leu639=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775999	NM_005883.3(APC2):c.2319C>G (p.Ser773=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775638	NM_005883.3(APC2):c.129G>A (p.Thr43=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769037	NM_005883.3(APC2):c.5961C>T (p.Asp1987=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768425	NM_005883.3(APC2):c.2748G>A (p.Lys916=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 9