"PreventionGenetics, part of Exact Sciences"[submitter] AND "MAGI2"[ge - ClinVar

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Items: 33

	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 2732324	NM_012301.4(MAGI2):c.3951G>A (p.Ser1317=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 282850	NM_012301.4(MAGI2):c.3911G>A (p.Gly1304Asp)	MAGI2 (G1304D +1 more)	Single nucleotide variant (missense variant)	MAGI2-related disorder +2 more	GLikely benign
Select item 2156859	NM_012301.4(MAGI2):c.3855T>G (p.Thr1285=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2855574	NM_012301.4(MAGI2):c.3786C>G (p.Leu1262=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder +1 more	GBenign/Likely benign
Select item 719019	NM_012301.4(MAGI2):c.3765C>T (p.Gly1255=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3030925	NM_012301.4(MAGI2):c.3720C>T (p.Pro1240=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder	GLikely benign
Select item 3053557	NM_012301.4(MAGI2):c.3706+4C>T	MAGI2	Single nucleotide variant (intron variant)	MAGI2-related disorder	GLikely benign
Select item 3036306	NM_012301.4(MAGI2):c.3032-3C>T	MAGI2	Single nucleotide variant (intron variant)	MAGI2-related disorder	GLikely benign
Select item 3048447	NM_012301.4(MAGI2):c.3032-5C>T	MAGI2	Single nucleotide variant (intron variant)	MAGI2-related disorder	GLikely benign
Select item 498637	NM_012301.4(MAGI2):c.2723C>G (p.Pro908Arg)	MAGI2 (P908R +1 more)	Single nucleotide variant (missense variant)	MAGI2-related disorder +2 more	GUncertain significance
Select item 2628612	NM_012301.4(MAGI2):c.2722C>A (p.Pro908Thr)	MAGI2 (P894T +1 more)	Single nucleotide variant (missense variant)	MAGI2-related disorder	GUncertain significance
Select item 2637167	NM_012301.4(MAGI2):c.2695G>C (p.Ala899Pro)	MAGI2 (A885P +1 more)	Single nucleotide variant (missense variant)	MAGI2-related disorder	GUncertain significance
Select item 3032278	NM_012301.4(MAGI2):c.2595A>G (p.Gly865=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder	GLikely benign
Select item 194528	NM_012301.4(MAGI2):c.2454C>T (p.Arg818=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3048293	NM_012301.4(MAGI2):c.2404-5T>C	MAGI2	Single nucleotide variant (intron variant)	MAGI2-related disorder	GLikely benign
Select item 2632034	NM_012301.4(MAGI2):c.2380G>T (p.Gly794Trp)	MAGI2 (G780W +1 more)	Single nucleotide variant (missense variant)	MAGI2-related disorder	GUncertain significance
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 2882244	NM_012301.4(MAGI2):c.2238C>T (p.Tyr746=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3056151	NM_012301.4(MAGI2):c.2235C>T (p.Leu745=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder	GLikely 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 3029623	NM_012301.4(MAGI2):c.2187T>C (p.Pro729=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder	GLikely benign
Select item 194084	NM_012301.4(MAGI2):c.2142G>A (p.Pro714=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3050024	NM_012301.4(MAGI2):c.2079+9G>A	MAGI2	Single nucleotide variant (intron variant)	MAGI2-related disorder	GLikely benign
Select item 2892544	NM_012301.4(MAGI2):c.1914T>G (p.Pro638=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2155167	NM_012301.4(MAGI2):c.1158G>A (p.Lys386=)	MAGI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 2722356	NM_012301.4(MAGI2):c.564G>A (p.Pro188=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder +1 more	GLikely benign
Select item 284891	NM_012301.4(MAGI2):c.528G>A (p.Gly176=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder +3 more	GBenign/Likely benign
Select item 2885107	NM_012301.4(MAGI2):c.363G>T (p.Val121=)	MAGI2	Single nucleotide variant (synonymous variant)	MAGI2-related disorder +1 more	GLikely benign
Select item 2145760	NM_012301.4(MAGI2):c.302-9dup	MAGI2	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 95511	NM_012301.4(MAGI2):c.276C>G (p.Pro92=)	MAGI2, MAGI2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	MAGI2-related disorder +3 more	GBenign/Likely benign
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: 33