ClinVar for MedGen (Select 1781752) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064741	NM_003177.7(SYK):c.1301G>A (p.Arg434Gln)	SYK (R411Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 82 with systemic inflammation	GUncertain significance
Select item 1687481	NM_003177.7(SYK):c.1417G>C (p.Glu473Gln)	SYK (E450Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 82 with systemic inflammation	GUncertain significance
Select item 1683538	NM_003177.7(SYK):c.688G>A (p.Glu230Lys)	SYK (E230K)	Single nucleotide variant (missense variant)	Immunodeficiency 82 with systemic inflammation	GUncertain significance
Select item 989389	NM_003177.7(SYK):c.1649C>A (p.Ser550Tyr)	SYK (S527Y +1 more)	Single nucleotide variant (missense variant)	Colitis +4 more	GPathogenic
Select item 989387	NM_003177.7(SYK):c.1024C>A (p.Pro342Thr)	SYK (P319T +1 more)	Single nucleotide variant (missense variant)	Colitis +4 more	GLikely pathogenic
Select item 989386	NM_003177.7(SYK):c.1649C>T (p.Ser550Phe)	SYK (S527F +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency +5 more	GConflicting classifications of pathogenicity

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