Related gene-specific medical variations for Gene (Select 9863) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292710	NM_012301.4(MAGI2):c.25A>G (p.Ser9Gly)	MAGI2, MAGI2-AS3 (S9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292705	NM_012301.4(MAGI2):c.4108C>G (p.Arg1370Gly)	LOC129998720, MAGI2 (R1370G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245904	NC_000007.13:g.(?_78636386)_(79082636_?)dup	MAGI2	Duplication	not provided	GUncertain significance
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 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 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 2896255	NM_012301.4(MAGI2):c.4146C>G (p.Gly1382=)	LOC129998720, MAGI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 2178775	NM_012301.4(MAGI2):c.4068C>T (p.Asp1356=)	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 2069013	NM_012301.4(MAGI2):c.165G>A (p.Glu55=)	MAGI2, MAGI2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	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 1801455	NM_012301.4(MAGI2):c.301+85161_301+85162insAATCAATTAAAAAATATATATATATATAATATATACTATATATATACAATCGATATAG	MAGI2	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 1683652	NM_012301.4(MAGI2):c.147del (p.Gly50fs)	MAGI2, MAGI2-AS3 (G50fs)	Deletion (non-coding transcript variant +1 more)	Nephrotic syndrome 15	GLikely pathogenic
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 1316173	NM_012301.4(MAGI2):c.-27G>A	MAGI2, MAGI2-AS3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1273517	NM_012301.4(MAGI2):c.-101T>G	MAGI2, MAGI2-AS3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 979626	GRCh37/hg19 7q21.11(chr7:78082858-78237175)x1	MAGI2	Copy number loss	not provided	GUncertain significance
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 595528	NM_012301.4(MAGI2):c.11G>T (p.Ser4Ile)	MAGI2, MAGI2-AS3 (S4I)	Single nucleotide variant (missense 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 provided +1 more	GUncertain significance
Select item 431756	NM_012301.4(MAGI2):c.64_71del (p.Arg22fs)	MAGI2, MAGI2-AS3 (R22fs)	Deletion (frameshift variant)	Nephrotic syndrome 15	GPathogenic
Select item 395573	GRCh37/hg19 7q21.11(chr7:78893211-79082851)x3	MAGI2	Copy number gain	See cases	GUncertain significance
Select item 393998	GRCh37/hg19 7q21.11(chr7:78095241-78118995)x3	MAGI2	Copy number gain	See cases	GBenign
Select item 393814	GRCh37/hg19 7q21.11(chr7:78072972-78118995)x3	MAGI2	Copy number gain	See cases	GBenign
Select item 253370	GRCh37/hg19 7q21.11(chr7:77972816-79082129)x1	MAGI2	Copy number loss	See cases	GLikely pathogenic
Select item 253354	GRCh37/hg19 7q21.11(chr7:77972816-78186999)x1	MAGI2	Copy number loss	See cases	GLikely pathogenic
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 161661	NM_012301.4(MAGI2):c.1340A>T (p.Asp447Val)	MAGI2 (D447V)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 129558	NM_012301.4(MAGI2):c.219C>T (p.Pro73=)	MAGI2, MAGI2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95511	NM_012301.4(MAGI2):c.276C>G (p.Pro92=)	MAGI2, MAGI2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	Nephrotic syndrome 15 +2 more	GBenign/Likely benign

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Links from Gene

Items: 39