Related gene-specific medical variations for Gene (Select 4068) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245003	NC_000023.10:g.(?_123499639)_(123506985_?)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely pathogenic
Select item 3244992	NC_000023.10:g.(?_123497345)_(123505232_?)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely pathogenic
Select item 3244981	NC_000023.10:g.(?_123504006)_(123505241_?)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 3244970	NC_000023.10:g.(?_123499591)_(123505241_?)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 3237463	NM_002351.5(SH2D1A):c.162C>A (p.Tyr54Ter)	SH2D1A (Y54*)	Single nucleotide variant (nonsense)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely pathogenic
Select item 2442798	NM_002351.5(SH2D1A):c.1A>G (p.Met1Val)	SH2D1A (M1V)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 1210283	NC_000023.11:g.[124350560_124365777del;124365777_124365917inv;124365911_124365916del]	SH2D1A	Complex	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely pathogenic

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