ClinVar for OMIM (Select 301031) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582378	NM_001367916.1(MAGT1):c.297C>G (p.Ile99Met)	MAGT1 (I131M +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia +1 more	GUncertain significance
Select item 1802597	NM_001367916.1(MAGT1):c.752C>T (p.Thr251Met)	MAGT1 (T251M +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type ICC	GUncertain significance
Select item 996948	NM_001367916.1(MAGT1):c.-3A>G	LOC130068460, MAGT1 (N32D)	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation, type ICC +1 more	GConflicting classifications of pathogenicity
Select item 625838	NM_001367916.1(MAGT1):c.842T>G (p.Leu281Ter)	MAGT1 (L313* +1 more)	Single nucleotide variant (nonsense)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GPathogenic
Select item 625837	NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter)	MAGT1 (R331* +1 more)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation +1 more	GPathogenic
Select item 625836	NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn)	MAGT1 (K356N +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GPathogenic
Select item 96213	NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly)	MAGT1 (V311G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign

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