ClinVar for MedGen (Select 1620414) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1687346	NM_012301.4(MAGI2):c.4264_4297del (p.Ala1422fs)	MAGI2 (A1408fs +1 more)	Deletion (frameshift variant)	Nephrotic syndrome 15	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 1636023	NM_012301.4(MAGI2):c.3706+12G>A	MAGI2	Single nucleotide variant (intron variant)	Nephrotic syndrome 15 +1 more	GLikely benign
Select item 1525504	NM_012301.4(MAGI2):c.3079_3096dup (p.Met1027_Pro1032dup)	MAGI2	Duplication (inframe_insertion)	Nephrotic syndrome 15 +1 more	GUncertain significance
Select item 1410858	NM_012301.4(MAGI2):c.743T>A (p.Val248Glu)	MAGI2 (V248E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1345986	NM_012301.4(MAGI2):c.1717C>G (p.Pro573Ala)	MAGI2 (P573A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 626133	NM_012301.4(MAGI2):c.1777A>G (p.Met593Val)	MAGI2 (M593V)	Single nucleotide variant (missense variant)	Nephrotic syndrome 15	GUncertain significance
Select item 625978	NM_012301.4(MAGI2):c.2117C>T (p.Thr706Met)	MAGI2 (T706M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 586133	NM_012301.4(MAGI2):c.3022C>T (p.Pro1008Ser)	MAGI2 (P1008S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 499736	NM_012301.4(MAGI2):c.411G>A (p.Thr137=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 498637	NM_012301.4(MAGI2):c.2723C>G (p.Pro908Arg)	MAGI2 (P908R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 497139	NM_012301.4(MAGI2):c.2660G>A (p.Arg887His)	MAGI2 (R887H +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome 15 +1 more	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 431756	NM_012301.4(MAGI2):c.64_71del (p.Arg22fs)	MAGI2, MAGI2-AS3 (R22fs)	Deletion (frameshift variant)	Nephrotic syndrome 15	GPathogenic
Select item 431755	NM_012301.4(MAGI2):c.3998del (p.Gly1333fs)	MAGI2 (G1333fs +1 more)	Deletion (frameshift variant)	Nephrotic syndrome 15	GPathogenic
Select item 289733	NM_012301.4(MAGI2):c.1406C>T (p.Thr469Ile)	MAGI2 (T469I)	Single nucleotide variant (missense variant)	Nephrotic syndrome 15 +1 more	GUncertain significance
Select item 288312	NM_012301.4(MAGI2):c.817C>G (p.Pro273Ala)	MAGI2 (P273A)	Single nucleotide variant (missense variant)	Nephrotic syndrome 15 +1 more	GUncertain significance
Select item 286731	NM_012301.4(MAGI2):c.3083C>T (p.Ala1028Val)	MAGI2 (A1028V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 284891	NM_012301.4(MAGI2):c.528G>A (p.Gly176=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 284203	NM_012301.4(MAGI2):c.2616C>T (p.Asn872=)	MAGI2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 195685	NM_012301.4(MAGI2):c.4109G>C (p.Arg1370Pro)	LOC129998720, MAGI2 (R1370P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 194759	NM_012301.4(MAGI2):c.2958G>T (p.Met986Ile)	MAGI2 (M986I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 194647	NM_012301.4(MAGI2):c.2830T>C (p.Ser944Pro)	MAGI2 (S944P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 193700	NM_012301.4(MAGI2):c.2012T>C (p.Ile671Thr)	MAGI2 (I671T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 193699	NM_012301.4(MAGI2):c.1530C>T (p.Tyr510=)	MAGI2	Single nucleotide variant (synonymous variant)	Nephrotic syndrome 15 +1 more	GUncertain significance
Select item 129567	NM_012301.4(MAGI2):c.900A>G (p.Glu300=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 129554	NM_012301.4(MAGI2):c.4353G>A (p.Ser1451=)	MAGI2	Single nucleotide variant (synonymous variant)	Nephrotic syndrome 15 +2 more	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 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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Items: 34