MAGI2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 148376	GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3	APTR, CCDC146 +45 more	Copy number gain	See cases	GUncertain significance
Select item 1317281	NM_012301.4(MAGI2):c.*99G>A	MAGI2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1343875	NM_012301.4(MAGI2):c.*66G>C	MAGI2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 129554	NM_012301.4(MAGI2):c.4353G>A (p.Ser1451=)	MAGI2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 95514	NM_012301.4(MAGI2):c.4329C>G (p.Pro1443=)	MAGI2	Single nucleotide variant (synonymous variant)	not specified +2 more	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 1687346	NM_012301.4(MAGI2):c.4264_4297del (p.Ala1422fs)	MAGI2 (A1408fs +1 more)	Deletion (frameshift variant)	Nephrotic syndrome 15	GUncertain significance
Select item 1468623	NM_012301.4(MAGI2):c.4274G>T (p.Arg1425Leu)	MAGI2 (R1425L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95513	NM_012301.4(MAGI2):c.4269G>C (p.Pro1423=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 1693099	NM_012301.4(MAGI2):c.4255C>G (p.Pro1419Ala)	MAGI2 (P1405A +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome 15 +1 more	GUncertain significance
Select item 1981653	NM_012301.4(MAGI2):c.4232G>A (p.Gly1411Asp)	MAGI2 (G1397D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945292	NM_012301.4(MAGI2):c.4221T>C (p.Gly1407=)	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 1515605	NM_012301.4(MAGI2):c.4207G>T (p.Glu1403Ter)	MAGI2 (E1389* +1 more)	Single nucleotide variant (nonsense)	not provided	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 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 1940197	NM_012301.4(MAGI2):c.4177GGC[5] (p.Gly1396_Ser1397insGly)	MAGI2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 211418	NM_012301.4(MAGI2):c.4177GGC[6] (p.Gly1395_Gly1396dup)	MAGI2	Microsatellite (inframe_insertion)	not specified	GLikely benign
Select item 2184687	NM_012301.4(MAGI2):c.4183G>A (p.Gly1395Ser)	MAGI2 (G1395S +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 2896255	NM_012301.4(MAGI2):c.4146C>G (p.Gly1382=)	LOC129998720, MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667834	NM_012301.4(MAGI2):c.4131C>G (p.Leu1377=)	LOC129998720, MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103958	NM_012301.4(MAGI2):c.4123T>C (p.Ser1375Pro)	LOC129998720, MAGI2 (S1361P +1 more)	Single nucleotide variant (missense variant)	not provided	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 195685	NM_012301.4(MAGI2):c.4109G>C (p.Arg1370Pro)	LOC129998720, MAGI2 (R1370P +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome 15 +2 more	GUncertain significance
Select item 2255634	NM_012301.4(MAGI2):c.4088C>A (p.Ala1363Glu)	LOC129998720, MAGI2 (A1363E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2178775	NM_012301.4(MAGI2):c.4068C>T (p.Asp1356=)	LOC129998720, MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2246702	NM_012301.4(MAGI2):c.4055T>G (p.Leu1352Arg)	LOC129998720, MAGI2 (L1352R +1 more)	Single nucleotide variant (missense variant)	not specified	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 1995206	NM_012301.4(MAGI2):c.4023C>T (p.Gly1341=)	LOC129998720, MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 598114	NM_012301.4(MAGI2):c.4014C>T (p.Pro1338=)	MAGI2, LOC129998720	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 594574	NM_012301.4(MAGI2):c.4001G>T (p.Gly1334Val)	LOC129998720, MAGI2 (G1334V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 431755	NM_012301.4(MAGI2):c.3998del (p.Gly1333fs)	MAGI2 (G1333fs +1 more)	Deletion (frameshift variant)	Nephrotic syndrome 15	GPathogenic
Select item 2005169	NM_012301.4(MAGI2):c.3981G>A (p.Arg1327=)	MAGI2	Single nucleotide variant (synonymous 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 1805946	NM_012301.4(MAGI2):c.3919A>C (p.Lys1307Gln)	MAGI2 (K1293Q +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome 15	GUncertain significance
Select item 757109	NM_012301.4(MAGI2):c.3918G>A (p.Lys1306=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 95512	NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=)	MAGI2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 282850	NM_012301.4(MAGI2):c.3911G>A (p.Gly1304Asp)	MAGI2 (G1304D +1 more)	Single nucleotide variant (missense variant)	MAGI2-related disorder +2 more	GLikely benign
Select item 1910259	NM_012301.4(MAGI2):c.3879C>T (p.Asp1293=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2156859	NM_012301.4(MAGI2):c.3855T>G (p.Thr1285=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2415387	NM_012301.4(MAGI2):c.3804A>T (p.Ser1268=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 373390	NM_012301.4(MAGI2):c.3802T>G (p.Ser1268Ala)	MAGI2 (S1268A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288481	NM_012301.4(MAGI2):c.3798T>C (p.Ser1266=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	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 2228458	NM_012301.4(MAGI2):c.3790C>T (p.Pro1264Ser)	MAGI2 (P1264S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1957196	NM_012301.4(MAGI2):c.3780C>G (p.Asp1260Glu)	MAGI2 (D1246E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719019	NM_012301.4(MAGI2):c.3765C>T (p.Gly1255=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder +1 more	GBenign/Likely benign
Select item 285522	NM_012301.4(MAGI2):c.3739G>A (p.Ala1247Thr)	MAGI2 (A1247T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 3030925	NM_012301.4(MAGI2):c.3720C>T (p.Pro1240=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder	GLikely benign
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 2127980	NM_012301.4(MAGI2):c.3707-9C>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031009	NM_012301.4(MAGI2):c.3707-9C>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 290992	NM_012301.4(MAGI2):c.3707-10C>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1968106	NM_012301.4(MAGI2):c.3707-17G>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317325	NM_012301.4(MAGI2):c.3707-143_3707-138dup	MAGI2	Duplication (intron variant)	not provided	GLikely benign
Select item 1228092	NM_012301.4(MAGI2):c.3707-221G>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239919	NM_012301.4(MAGI2):c.3706+133_3706+136del	MAGI2	Deletion (intron variant)	not provided	GBenign
Select item 1316540	NM_012301.4(MAGI2):c.3706+125TA[4]	MAGI2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1262842	NM_012301.4(MAGI2):c.3706+133T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2880474	NM_012301.4(MAGI2):c.3706+12G>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636023	NM_012301.4(MAGI2):c.3706+12G>A	MAGI2	Single nucleotide variant (intron variant)	Nephrotic syndrome 15 +1 more	GLikely benign
Select item 195607	NM_012301.4(MAGI2):c.3706+5G>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 3053557	NM_012301.4(MAGI2):c.3706+4C>T	MAGI2	Single nucleotide variant (intron variant)	MAGI2-related disorder	GLikely benign
Select item 1361699	NM_012301.4(MAGI2):c.3701A>C (p.Glu1234Ala)	MAGI2 (E1220A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163992	NM_012301.4(MAGI2):c.3687G>A (p.Thr1229=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1229731	NM_012301.4(MAGI2):c.3568-329T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317427	NM_012301.4(MAGI2):c.3567+237T>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963301	NM_012301.4(MAGI2):c.3567+14C>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 431757	NM_012301.4(MAGI2):c.3526_3533dup (p.Glu1178fs)	MAGI2 (E1178fs +1 more)	Duplication (frameshift variant)	Nephrotic syndrome 15	GPathogenic
Select item 593529	NM_012301.4(MAGI2):c.3450G>A (p.Met1150Ile)	MAGI2 (M1150I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164538	NM_012301.4(MAGI2):c.3441T>A (p.Thr1147=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2187747	NM_012301.4(MAGI2):c.3424-14C>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961317	NM_012301.4(MAGI2):c.3424-19T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280885	NM_012301.4(MAGI2):c.3424-43T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270911	NM_012301.4(MAGI2):c.3424-191C>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222936	NM_012301.4(MAGI2):c.3423+239G>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258647	NM_012301.4(MAGI2):c.3423+237G>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129553	NM_012301.4(MAGI2):c.3400C>G (p.Leu1134Val)	MAGI2 (L1134V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501055	NM_012301.4(MAGI2):c.3381C>T (p.Pro1127=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1915268	NM_012301.4(MAGI2):c.3379C>A (p.Pro1127Thr)	MAGI2 (P1127T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102948	NM_012301.4(MAGI2):c.3357_3358delinsGG (p.Leu1120Val)	MAGI2 (L1120V +1 more)	Indel (missense variant)	not provided	GUncertain significance

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