"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "RFX5"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 732028	NM_001025603.2(RFX5):c.1569G>A (p.Glu523=)	RFX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 471257	NM_001025603.2(RFX5):c.892G>A (p.Gly298Ser)	RFX5 (G298S +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3234424	NM_001025603.2(RFX5):c.618C>T (p.Ala206=)	RFX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498413	NM_001025603.2(RFX5):c.616G>C (p.Ala206Pro)	RFX5 (A166P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 292617	NM_001025603.2(RFX5):c.590G>A (p.Arg197Gln)	RFX5 (R197Q +1 more)	Single nucleotide variant (missense variant)	RFX5-related condition +2 more	GBenign
Select item 709357	NM_001025603.2(RFX5):c.233+4G>C	RFX5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar