ClinVar (all) for Orgtrack (Select 507862) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664476	NM_002210.5(ITGAV):c.1564+3_1564+6del	ITGAV	Deletion (splice donor variant)	ITGAV deficiency	GLikely pathogenic
Select item 2663880	NM_002210.5(ITGAV):c.2247-1G>A	ITGAV	Single nucleotide variant (splice acceptor variant)	ITGAV deficiency	GLikely pathogenic
Select item 2663810	NM_002210.5(ITGAV):c.1136A>T (p.Asp379Val)	ITGAV (D333V +2 more)	Single nucleotide variant (missense variant)	ITGAV deficiency	GPathogenic
Select item 2663809	NM_002210.5(ITGAV):c.432G>C (p.Trp144Cys)	ITGAV (W144C +1 more)	Single nucleotide variant (missense variant)	ITGAV deficiency	GPathogenic
Select item 1047916	NM_001615.4(ACTG2):c.968C>T (p.Pro323Leu)	ACTG2 (P280L +1 more)	Single nucleotide variant (missense variant)	Chronic intestinal pseudoobstruction	GLikely pathogenic
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