ClinVar for Gene (Select 9863) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3122264	NM_012301.4(MAGI2):c.70C>A (p.Pro24Thr)	MAGI2, MAGI2-AS3 (P24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122263	NM_012301.4(MAGI2):c.703G>A (p.Glu235Lys)	MAGI2 (E235K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122262	NM_012301.4(MAGI2):c.690G>T (p.Glu230Asp)	MAGI2 (E230D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122261	NM_012301.4(MAGI2):c.4357G>A (p.Ala1453Thr)	MAGI2 (A1453T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122260	NM_012301.4(MAGI2):c.4192G>A (p.Gly1398Ser)	MAGI2 (G1398S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122259	NM_012301.4(MAGI2):c.3709G>T (p.Glu1237Ter)	MAGI2 (E1237* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3122258	NM_012301.4(MAGI2):c.3548T>C (p.Ile1183Thr)	MAGI2 (I1169T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122257	NM_012301.4(MAGI2):c.3116T>C (p.Leu1039Pro)	MAGI2 (L1025P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122256	NM_012301.4(MAGI2):c.2894G>A (p.Arg965His)	MAGI2 (R951H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122255	NM_012301.4(MAGI2):c.2392C>A (p.Pro798Thr)	MAGI2 (P798T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122252	NM_012301.4(MAGI2):c.1756G>A (p.Val586Ile)	MAGI2 (V586I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122251	NM_012301.4(MAGI2):c.1585A>G (p.Ile529Val)	MAGI2 (I529V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122249	NM_012301.4(MAGI2):c.1296C>G (p.Ser432Arg)	MAGI2 (S432R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122248	NM_012301.4(MAGI2):c.1243C>T (p.Arg415Trp)	MAGI2 (R415W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122247	NM_012301.4(MAGI2):c.1141C>G (p.Leu381Val)	MAGI2 (L381V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056151	NM_012301.4(MAGI2):c.2235C>T (p.Leu745=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder	GLikely benign
Select item 3053557	NM_012301.4(MAGI2):c.3706+4C>T	MAGI2	Single nucleotide variant (intron variant)	MAGI2-related disorder	GLikely benign
Select item 3050024	NM_012301.4(MAGI2):c.2079+9G>A	MAGI2	Single nucleotide variant (intron variant)	MAGI2-related disorder	GLikely benign
Select item 3048447	NM_012301.4(MAGI2):c.3032-5C>T	MAGI2	Single nucleotide variant (intron variant)	MAGI2-related disorder	GLikely benign
Select item 3048293	NM_012301.4(MAGI2):c.2404-5T>C	MAGI2	Single nucleotide variant (intron variant)	MAGI2-related disorder	GLikely benign
Select item 3036306	NM_012301.4(MAGI2):c.3032-3C>T	MAGI2	Single nucleotide variant (intron variant)	MAGI2-related disorder	GLikely benign
Select item 3032278	NM_012301.4(MAGI2):c.2595A>G (p.Gly865=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder	GLikely benign
Select item 3030925	NM_012301.4(MAGI2):c.3720C>T (p.Pro1240=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder	GLikely benign
Select item 3029623	NM_012301.4(MAGI2):c.2187T>C (p.Pro729=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder	GLikely benign
Select item 3021343	NM_012301.4(MAGI2):c.2846-18C>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021146	NM_012301.4(MAGI2):c.418+11T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011753	NM_012301.4(MAGI2):c.588G>A (p.Leu196=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011499	NM_012301.4(MAGI2):c.159_174del (p.Tyr54fs)	MAGI2, MAGI2-AS3 (Y54fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 3010464	NM_012301.4(MAGI2):c.2704A>G (p.Ser902Gly)	MAGI2 (S888G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973691	NM_012301.4(MAGI2):c.302-9del	MAGI2	Deletion (intron variant)	not provided	GBenign
Select item 2972751	NM_012301.4(MAGI2):c.3723_3736del (p.Trp1241fs)	MAGI2 (W1227fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2968134	NM_012301.4(MAGI2):c.1409-8dup	MAGI2	Duplication (intron variant)	not provided	GBenign
Select item 2967536	NM_012301.4(MAGI2):c.754+18T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2963661	NM_012301.4(MAGI2):c.301+13G>T	MAGI2, MAGI2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2963301	NM_012301.4(MAGI2):c.3567+14C>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957479	NM_012301.4(MAGI2):c.3039C>T (p.Asn1013=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908962	NM_012301.4(MAGI2):c.3195C>T (p.His1065=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2908258	NM_012301.4(MAGI2):c.4305G>A (p.Lys1435=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902715	NM_012301.4(MAGI2):c.1365G>C (p.Val455=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902050	NM_012301.4(MAGI2):c.4216G>A (p.Ala1406Thr)	MAGI2 (A1406T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2898290	NM_012301.4(MAGI2):c.1515G>A (p.Val505=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896255	NM_012301.4(MAGI2):c.4146C>G (p.Gly1382=)	LOC129998720, MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892544	NM_012301.4(MAGI2):c.1914T>G (p.Pro638=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2885107	NM_012301.4(MAGI2):c.363G>T (p.Val121=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder +1 more	GLikely benign
Select item 2883313	NM_012301.4(MAGI2):c.2541C>T (p.His847=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882244	NM_012301.4(MAGI2):c.2238C>T (p.Tyr746=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2880474	NM_012301.4(MAGI2):c.3706+12G>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869933	NM_012301.4(MAGI2):c.2079+8G>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855574	NM_012301.4(MAGI2):c.3786C>G (p.Leu1262=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder +1 more	GBenign/Likely benign
Select item 2785674	NM_012301.4(MAGI2):c.2433C>T (p.Gly811=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778076	NM_012301.4(MAGI2):c.2311+18C>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762513	NM_012301.4(MAGI2):c.418+11T>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757291	NM_012301.4(MAGI2):c.2047+17C>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755852	NM_012301.4(MAGI2):c.2480A>T (p.Tyr827Phe)	MAGI2 (Y827F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2732324	NM_012301.4(MAGI2):c.3951G>A (p.Ser1317=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2722356	NM_012301.4(MAGI2):c.564G>A (p.Pro188=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder +1 more	GLikely benign
Select item 2719923	NM_012301.4(MAGI2):c.2597-6_2597-5del	MAGI2	Deletion (intron variant)	not provided	GBenign
Select item 2698815	NM_012301.4(MAGI2):c.3164C>A (p.Ala1055Glu)	MAGI2 (A1055E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657634	NM_012301.4(MAGI2):c.4029C>G (p.Pro1343=)	LOC129998720, MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637167	NM_012301.4(MAGI2):c.2695G>C (p.Ala899Pro)	MAGI2 (A885P +1 more)	Single nucleotide variant (missense variant)	MAGI2-related disorder	GUncertain significance
Select item 2632034	NM_012301.4(MAGI2):c.2380G>T (p.Gly794Trp)	MAGI2 (G780W +1 more)	Single nucleotide variant (missense variant)	MAGI2-related disorder	GUncertain significance
Select item 2628612	NM_012301.4(MAGI2):c.2722C>A (p.Pro908Thr)	MAGI2 (P894T +1 more)	Single nucleotide variant (missense variant)	MAGI2-related disorder	GUncertain significance
Select item 2617230	NM_012301.4(MAGI2):c.2100T>G (p.Asn700Lys)	MAGI2 (N700K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616488	NM_012301.4(MAGI2):c.4169C>A (p.Ala1390Asp)	MAGI2 (A1376D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615688	NM_012301.4(MAGI2):c.4259G>A (p.Gly1420Glu)	MAGI2 (G1406E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612109	NM_012301.4(MAGI2):c.218C>T (p.Pro73Leu)	MAGI2, MAGI2-AS3 (P73L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2611514	NM_012301.4(MAGI2):c.4154C>T (p.Ala1385Val)	LOC129998720, MAGI2 (A1385V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608585	NM_012301.4(MAGI2):c.4150G>T (p.Gly1384Trp)	LOC129998720, MAGI2 (G1384W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602030	NM_012301.4(MAGI2):c.4148C>T (p.Pro1383Leu)	LOC129998720, MAGI2 (P1383L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592308	NM_012301.4(MAGI2):c.728A>G (p.Asn243Ser)	MAGI2 (N243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558015	NM_012301.4(MAGI2):c.2161C>A (p.Pro721Thr)	MAGI2 (P721T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554339	NM_012301.4(MAGI2):c.1810A>T (p.Met604Leu)	MAGI2 (M604L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543103	NM_012301.4(MAGI2):c.1508A>G (p.Asn503Ser)	MAGI2 (N503S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541253	NM_012301.4(MAGI2):c.3560G>A (p.Arg1187Lys)	MAGI2 (R1173K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526728	NM_012301.4(MAGI2):c.539A>G (p.Asp180Gly)	MAGI2 (D180G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519753	NM_012301.4(MAGI2):c.643C>T (p.Arg215Trp)	MAGI2 (R215W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503401	NM_012301.4(MAGI2):c.2483T>C (p.Val828Ala)	MAGI2 (V814A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499046	NM_012301.4(MAGI2):c.539-32942G>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2499045	NM_012301.4(MAGI2):c.1104-3del	MAGI2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2475518	NM_012301.4(MAGI2):c.1921T>A (p.Cys641Ser)	MAGI2 (C641S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475196	NM_012301.4(MAGI2):c.818C>T (p.Pro273Leu)	MAGI2 (P273L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460844	NM_012301.4(MAGI2):c.2344C>T (p.Arg782Trp)	MAGI2 (R768W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460739	NM_012301.4(MAGI2):c.2297G>A (p.Arg766Gln)	MAGI2 (R766Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425794	NC_000007.13:g.(?_77648632)_(77998550_?)dup	MAGI2	Duplication	not provided	GUncertain significance
Select item 2425793	NC_000007.13:g.(?_77530028)_(79082636_?)del	MAGI2, PHTF2	Deletion	not provided	GPathogenic
Select item 2420959	NM_012301.4(MAGI2):c.1332C>G (p.Asp444Glu)	MAGI2 (D444E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415387	NM_012301.4(MAGI2):c.3804A>T (p.Ser1268=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2398098	NM_012301.4(MAGI2):c.2516G>A (p.Arg839His)	MAGI2 (R825H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387979	NM_012301.4(MAGI2):c.4174C>T (p.Pro1392Ser)	MAGI2 (P1392S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362933	NM_012301.4(MAGI2):c.3047C>T (p.Thr1016Ile)	MAGI2 (T1002I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353591	NM_012301.4(MAGI2):c.4190G>A (p.Ser1397Asn)	MAGI2 (S1383N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322053	NM_012301.4(MAGI2):c.1552G>T (p.Asp518Tyr)	MAGI2 (D518Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319772	NM_012301.4(MAGI2):c.4115C>T (p.Ala1372Val)	LOC129998720, MAGI2 (A1372V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317358	NM_012301.4(MAGI2):c.3221A>G (p.Lys1074Arg)	MAGI2 (K1074R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309255	NM_012301.4(MAGI2):c.69C>A (p.Asn23Lys)	MAGI2, MAGI2-AS3 (N23K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279558	NM_012301.4(MAGI2):c.3781G>C (p.Gly1261Arg)	MAGI2 (G1247R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279045	NM_012301.4(MAGI2):c.2677T>G (p.Tyr893Asp)	MAGI2 (Y879D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275899	NM_012301.4(MAGI2):c.3797C>T (p.Ser1266Phe)	MAGI2 (S1266F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273369	NM_012301.4(MAGI2):c.1390G>C (p.Asp464His)	MAGI2 (D464H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270583	NM_012301.4(MAGI2):c.686T>C (p.Ile229Thr)	MAGI2 (I229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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