ClinVar for MedGen (Select 2043) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570677	NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu)	CUL9 (P911L)	Single nucleotide variant (missense variant)	Abnormal facial shape +14 more	GUncertain significance
Select item 2570675	NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp)	CUL9 (R2413W)	Single nucleotide variant (missense variant)	Abnormal facial shape +14 more	GUncertain significance
Select item 989389	NM_003177.7(SYK):c.1649C>A (p.Ser550Tyr)	SYK (S527Y +1 more)	Single nucleotide variant (missense variant)	Arthritis +4 more	GPathogenic
Select item 989387	NM_003177.7(SYK):c.1024C>A (p.Pro342Thr)	SYK (P319T +1 more)	Single nucleotide variant (missense variant)	Arthritis +4 more	GLikely pathogenic
Select item 989237	NM_003177.7(SYK):c.1350G>A (p.Met450Ile)	SYK (M427I +1 more)	Single nucleotide variant (missense variant)	Arthritis +4 more	GLikely pathogenic
Select item 989236	NM_003177.7(SYK):c.1057G>A (p.Ala353Thr)	SYK (A330T +1 more)	Single nucleotide variant (missense variant)	Arthritis +3 more	GUncertain significance
Select item 684430	NM_005045.4(RELN):c.7456A>G (p.Ser2486Gly)	RELN (S2486G)	Single nucleotide variant (missense variant)	Arthritis, sacroiliac +8 more	GPathogenic
Select item 8954	NM_000098.3(CPT2):c.149C>A (p.Pro50His)	CPT2, LOC129930561 (P50H)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +13 more	GPathogenic

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