"GeneDx"[submitter] AND "MAGI2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
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 95514	NM_012301.4(MAGI2):c.4329C>G (p.Pro1443=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 1693099	NM_012301.4(MAGI2):c.4255C>G (p.Pro1419Ala)	MAGI2 (P1405A +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome 15 +2 more	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 provided +1 more	GUncertain significance
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 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 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 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 1280885	NM_012301.4(MAGI2):c.3424-43T>C	MAGI2	Single nucleotide variant (intron variant)	not provided +1 more	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 129565	NM_012301.4(MAGI2):c.3357A>G (p.Leu1119=)	MAGI2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 129564	NM_012301.4(MAGI2):c.3213G>A (p.Ser1071=)	MAGI2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1800489	NM_012301.4(MAGI2):c.3204-67C>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274966	NM_012301.4(MAGI2):c.3204-82C>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251272	NM_012301.4(MAGI2):c.3204-116G>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268433	NM_012301.4(MAGI2):c.3204-132A>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316766	NM_012301.4(MAGI2):c.3203+270A>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273618	NM_012301.4(MAGI2):c.3203+193G>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247620	NM_012301.4(MAGI2):c.3203+156T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1803599	NM_012301.4(MAGI2):c.3123G>A (p.Gln1041=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1243013	NM_012301.4(MAGI2):c.3032-80A>G	MAGI2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1223913	NM_012301.4(MAGI2):c.3031+293A>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182357	NM_012301.4(MAGI2):c.3031+259C>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316541	NM_012301.4(MAGI2):c.3031+233C>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278718	NM_012301.4(MAGI2):c.3031+85C>T	MAGI2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1227579	NM_012301.4(MAGI2):c.2846-68G>T	MAGI2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1247575	NM_012301.4(MAGI2):c.2846-159G>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129563	NM_012301.4(MAGI2):c.2784T>C (p.Asn928=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1698046	NM_012301.4(MAGI2):c.2616C>G (p.Asn872Lys)	MAGI2 (N858K +1 more)	Single nucleotide variant (missense variant)	not provided	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 1183256	NM_012301.4(MAGI2):c.2404-64dup	MAGI2	Duplication (intron variant)	not provided	GBenign
Select item 1274879	NM_012301.4(MAGI2):c.2404-51del	MAGI2	Deletion (intron variant)	not provided	GBenign
Select item 1318267	NM_012301.4(MAGI2):c.2403+140del	MAGI2	Deletion (intron variant)	not provided	GLikely benign
Select item 129561	NM_012301.4(MAGI2):c.2379C>T (p.Leu793=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 129560	NM_012301.4(MAGI2):c.2329T>C (p.Leu777=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1262064	NM_012301.4(MAGI2):c.2270-182T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317241	NM_012301.4(MAGI2):c.2269+215T>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 129551	NM_012301.4(MAGI2):c.2131C>A (p.Pro711Thr)	MAGI2 (P711T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2234002	NM_012301.4(MAGI2):c.2120G>T (p.Ser707Ile)	MAGI2 (S707I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1250548	NM_012301.4(MAGI2):c.2079+256C>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236433	NM_012301.4(MAGI2):c.2079+69G>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231628	NM_012301.4(MAGI2):c.2048-241T>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316445	NM_012301.4(MAGI2):c.2047+129_2047+132del	MAGI2	Deletion (intron variant)	not provided	GLikely benign
Select item 3342582	NM_012301.4(MAGI2):c.1940T>C (p.Val647Ala)	MAGI2 (V647A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95509	NM_012301.4(MAGI2):c.1755C>T (p.Pro585=)	MAGI2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1233522	NM_012301.4(MAGI2):c.1408+174T>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277044	NM_012301.4(MAGI2):c.1408+129T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317335	NM_012301.4(MAGI2):c.1226-24T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236506	NM_012301.4(MAGI2):c.1226-179G>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316260	NM_012301.4(MAGI2):c.1225+197C>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318083	NM_012301.4(MAGI2):c.1225+164T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317333	NM_012301.4(MAGI2):c.1104-32C>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317256	NM_012301.4(MAGI2):c.1104-91C>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248501	NM_012301.4(MAGI2):c.1104-264G>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180887	NM_012301.4(MAGI2):c.1103+281T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277483	NM_012301.4(MAGI2):c.1103+205A>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258588	NM_012301.4(MAGI2):c.1046-308C>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294530	NM_012301.4(MAGI2):c.1045+232T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243096	NM_012301.4(MAGI2):c.1045+96C>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129557	NM_012301.4(MAGI2):c.1014G>A (p.Lys338=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1237001	NM_012301.4(MAGI2):c.966-42T>G	MAGI2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1279287	NM_012301.4(MAGI2):c.966-66_966-65dup	MAGI2	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1222101	NM_012301.4(MAGI2):c.966-73dup	MAGI2	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1317429	NM_012301.4(MAGI2):c.965+266_965+270del	MAGI2	Deletion (intron variant)	not provided	GLikely benign
Select item 1294555	NM_012301.4(MAGI2):c.965+259A>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238932	NM_012301.4(MAGI2):c.965+218C>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242991	NM_012301.4(MAGI2):c.965+170C>A	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233805	NM_012301.4(MAGI2):c.965+154C>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294487	NM_012301.4(MAGI2):c.965+78dup	MAGI2	Duplication (intron variant)	not provided	GBenign
Select item 1294486	NM_012301.4(MAGI2):c.965+78_965+79dup	MAGI2	Duplication (intron variant)	not provided	GBenign
Select item 1223103	NM_012301.4(MAGI2):c.965+78_965+80dup	MAGI2	Duplication (intron variant)	not provided	GBenign
Select item 1259593	NM_012301.4(MAGI2):c.965+92del	MAGI2	Deletion (intron variant)	not provided	GBenign
Select item 1316387	NM_012301.4(MAGI2):c.965+77_965+78del	MAGI2	Deletion (intron variant)	not provided	GLikely benign
Select item 1261551	NM_012301.4(MAGI2):c.754+236_754+252del	MAGI2	Deletion (intron variant)	not provided	GBenign
Select item 1239410	NM_012301.4(MAGI2):c.754+197del	MAGI2	Deletion (intron variant)	not provided	GBenign
Select item 1291062	NM_012301.4(MAGI2):c.754+193A>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282319	NM_012301.4(MAGI2):c.754+178A>T	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268319	NM_012301.4(MAGI2):c.754+110A>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266734	NM_012301.4(MAGI2):c.539-163T>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316622	NM_012301.4(MAGI2):c.539-173T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225013	NM_012301.4(MAGI2):c.539-179T>C	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318409	NM_012301.4(MAGI2):c.538+260CA[18]	MAGI2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1316506	NM_012301.4(MAGI2):c.538+260CA[16]	MAGI2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1276048	NM_012301.4(MAGI2):c.538+260CA[15]	MAGI2	Microsatellite (intron variant)	not provided	GBenign
Select item 1272797	NM_012301.4(MAGI2):c.538+260CA[14]	MAGI2	Microsatellite (intron variant)	not provided	GBenign
Select item 1244850	NM_012301.4(MAGI2):c.538+260CA[12]	MAGI2	Microsatellite (intron variant)	not provided	GBenign
Select item 1244803	NM_012301.4(MAGI2):c.538+260CA[11]	MAGI2	Microsatellite (intron variant)	not provided	GBenign
Select item 1221440	NM_012301.4(MAGI2):c.538+157A>G	MAGI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231876	NM_012301.4(MAGI2):c.538+94G>A	MAGI2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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