C2931418[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1331461	NM_001025603.2(RFX5):c.1396C>T (p.Arg466Trp)	RFX5 (R426W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 663446	NM_000246.4(CIITA):c.1962dup (p.Gly655fs)	CIITA (G655fs +4 more)	Duplication (frameshift variant +1 more)	MHC class II deficiency	GPathogenic/Likely pathogenic
Select item 2440086	NM_000246.4(CIITA):c.2537A>G (p.His846Arg)	CIITA (H797R +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 2690567	NM_000246.4(CIITA):c.2698C>T (p.Gln900Ter)	CIITA (Q316* +5 more)	Single nucleotide variant (nonsense)	MHC class II deficiency	GLikely pathogenic
Select item 538586	NM_003721.4(RFXANK):c.332G>A (p.Arg111Gln)	RFXANK (R111Q +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 6600	NM_003721.4(RFXANK):c.362A>T (p.Asp121Val)	RFXANK (D121V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar