ClinVar for OMIM (Select 182205) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 441529	NM_000894.2(LHB):c.[104T>C;82T>C]	LHB (I35T +1 more)	Single nucleotide variant (missense variant)	LUTEINIZING HORMONE POLYMORPHISM	GBenign
Select item 102449	NM_178862.3(STT3B):c.1539+20G>T	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GPathogenic
Select item 8708	NM_002711.4(PPP1R3A):c.460_465delinsATTTAACACTG	PPP1R3A	Indel (3 prime UTR variant)	Glycemia variation	Gassociation

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