ClinVar for MedGen (Select 892481) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684654	Single allele	IDH3G, PDZD4 +200 more	Deletion	Immunodeficiency 33 +5 more	GPathogenic
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 989386	NM_003177.7(SYK):c.1649C>T (p.Ser550Phe)	SYK (S527F +1 more)	Single nucleotide variant (missense variant)	Skin rash +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)	Arthritis +4 more	GLikely pathogenic
Select item 549498	NM_013336.4(SEC61A1):c.254T>A (p.Val85Asp)	SEC61A1 (V85D +2 more)	Single nucleotide variant (missense variant)	Decreased circulating antibody level	GLikely pathogenic
Select item 410674	NM_198253.3(TERT):c.1931C>T (p.Thr644Met)	TERT (T644M)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +13 more	GConflicting classifications of pathogenicity

ClinVar