Related gene-specific medical variations for Gene (Select 5993) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362560	NM_001025603.2(RFX5):c.1025del (p.Pro342fs)	RFX5 (P302fs +1 more)	Deletion (frameshift variant)	MHC class II deficiency 3	GLikely pathogenic
Select item 875597	NM_001025603.2(RFX5):c.-131-15T>C	LOC126805858, RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GUncertain significance
Select item 292623	NM_001025603.2(RFX5):c.-131-8C>A	LOC126805858, RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GUncertain significance
Select item 292622	NM_001025603.2(RFX5):c.-91G>A	LOC126805858, RFX5	Single nucleotide variant (5 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 292621	NM_001025603.2(RFX5):c.-67T>G	LOC126805858, RFX5	Single nucleotide variant (5 prime UTR variant)	MHC class II deficiency	GLikely benign

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