"Genetic Services Laboratory, University of Chicago"[submitter] AND "M - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129554	NM_012301.4(MAGI2):c.4353G>A (p.Ser1451=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder +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 95513	NM_012301.4(MAGI2):c.4269G>C (p.Pro1423=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 211418	NM_012301.4(MAGI2):c.4177GGC[6] (p.Gly1395_Gly1396dup)	MAGI2	Microsatellite (inframe_insertion)	not specified	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 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 129565	NM_012301.4(MAGI2):c.3357A>G (p.Leu1119=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 129564	NM_012301.4(MAGI2):c.3213G>A (p.Ser1071=)	MAGI2	Single nucleotide variant (synonymous variant)	Nephrotic syndrome 15 +1 more	GBenign
Select item 129552	NM_012301.4(MAGI2):c.2793C>T (p.Phe931=)	MAGI2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 129563	NM_012301.4(MAGI2):c.2784T>C (p.Asn928=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 129562	NM_012301.4(MAGI2):c.2723C>A (p.Pro908His)	MAGI2 (P908H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 129561	NM_012301.4(MAGI2):c.2379C>T (p.Leu793=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	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 129559	NM_012301.4(MAGI2):c.2213G>A (p.Arg738Gln)	MAGI2 (R738Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely 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 95509	NM_012301.4(MAGI2):c.1755C>T (p.Pro585=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 129550	NM_012301.4(MAGI2):c.1713C>T (p.Ser571=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 129557	NM_012301.4(MAGI2):c.1014G>A (p.Lys338=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 129567	NM_012301.4(MAGI2):c.900A>G (p.Glu300=)	MAGI2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 129556	NM_012301.4(MAGI2):c.893A>G (p.Asn298Ser)	MAGI2 (N298S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 129555	NM_012301.4(MAGI2):c.878C>T (p.Thr293Ile)	MAGI2 (T293I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129566	NM_012301.4(MAGI2):c.531T>C (p.Thr177=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 specified +2 more	GConflicting classifications of pathogenicity

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Items: 23