"Baylor Genetics"[submitter] AND "CIITA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034124	NM_000246.4(CIITA):c.1552G>C (p.Ala518Pro)	CIITA (A469P +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 102994	NM_000246.4(CIITA):c.1684G>A (p.Ala562Thr)	CIITA (A562T +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 1031474	NM_000246.4(CIITA):c.2377C>G (p.Leu793Val)	CIITA (L770V +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 1031475	NM_000246.4(CIITA):c.2858C>G (p.Ala953Gly)	CIITA (A369G +5 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 972540	NM_000246.4(CIITA):c.3004G>A (p.Glu1002Lys)	CIITA (E418K +5 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +2 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)	Rheumatoid arthritis +6 more	GUncertain significance

ClinVar