C3862275[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8909	NM_015967.8(PTPN22):c.1858= (p.Trp620=)	AP4B1-AS1, PTPN22 (R620W +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 5466	NM_004001.4(FCGR2B):c.-386G>C	FCGR2B	Single nucleotide variant (genic upstream transcript variant)	Systemic lupus erythematosus, susceptibility to	Grisk factor
Select item 5467	NM_001394477.1(FCGR2B):c.695T>C (p.Ile232Thr)	FCGR2B (I232T +3 more)	Single nucleotide variant (missense variant +1 more)	Malaria, resistance to +1 more	Gprotective; risk factor
Select item 16921	NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala)	CTLA4 (T17A)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency +2 more	GBenign
Select item 4179	NM_033629.6(TREX1):c.341G>A (p.Arg114His)	ATRIP, ATRIP-TREX1 +1 more (R114H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 225964	NM_000594.3(TNF):c.-488G>A	TNF	Single nucleotide variant	etanercept response - Efficacy	Gdrug response
Select item 16851	NM_005223.4(DNASE1):c.13A>T (p.Lys5Ter)	DNASE1 (K5*)	Single nucleotide variant (nonsense +2 more)	Systemic lupus erythematosus, susceptibility to	Grisk factor
Select item 16852	NM_005223.4(DNASE1):c.731G>A (p.Arg244Gln)	DNASE1 (R244Q +2 more)	Single nucleotide variant (missense variant +1 more)	DNASE1-related condition +1 more	GBenign

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