Related gene-specific medical variations for Gene (Select 7297) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248457	NC_000019.9:g.(?_10469831)_(10469998_?)del	TYK2	Deletion	Immunodeficiency 35	GPathogenic
Select item 3065472	NM_003331.5(TYK2):c.193+1G>A	TYK2	Single nucleotide variant (splice donor variant)	Immunodeficiency 35	GLikely pathogenic
Select item 3064089	NM_003331.5(TYK2):c.2466+1G>T	TYK2 (V823L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GLikely pathogenic
Select item 2438450	NM_003331.5(TYK2):c.2228C>T (p.Ala743Val)	TYK2 (A677V +6 more)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 259045	NM_003331.5(TYK2):c.588C>A (p.Leu196=)	TYK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 224885	NM_003331.4(TYK2):c.3318_3319insC	TYK2	Insertion	Immunodeficiency 35	GPathogenic

ClinVar