ClinVar for MedGen (Select 40385) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571633	NM_015695.3(BRPF3):c.1978C>T (p.Leu660Phe)	BRPF3 (L660F)	Single nucleotide variant (missense variant)	Cranial asymmetry +3 more	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
Select item 989237	NM_003177.7(SYK):c.1350G>A (p.Met450Ile)	SYK (M427I +1 more)	Single nucleotide variant (missense variant)	Colitis +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 598994	NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn)	CIITA (S1115N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 465020	NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn)	FLNA (T2480N +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +9 more	GConflicting classifications of pathogenicity
Select item 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	Thrombocytopenia +21 more	GPathogenic