Related gene-specific medical variations for Gene (Select 100505881) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 431756	NM_012301.4(MAGI2):c.64_71del (p.Arg22fs)	MAGI2, MAGI2-AS3 (R22fs)	Deletion (frameshift variant)	Nephrotic syndrome 15	GPathogenic
Select item 129558	NM_012301.4(MAGI2):c.219C>T (p.Pro73=)	MAGI2, MAGI2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	MAGI2-related disorder +2 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)	not specified +3 more	GBenign/Likely benign