ClinVar for MedGen (Select 347904) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236742	NM_003721.4(RFXANK):c.163del (p.Asp55fs)	RFXANK (D55fs)	Deletion (frameshift variant)	MHC class II deficiency 2	GPathogenic
Select item 1435455	NM_003721.4(RFXANK):c.338-25_338del	RFXANK	Deletion (splice acceptor variant)	MHC class II deficiency 1 +1 more	GPathogenic
Select item 1074711	NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter)	RFXANK (R189* +3 more)	Single nucleotide variant (nonsense)	MHC class II deficiency	GPathogenic
Select item 844671	NM_003721.4(RFXANK):c.438+5G>A	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GConflicting classifications of pathogenicity
Select item 827735	NM_003721.4(RFXANK):c.584T>C (p.Leu195Pro)	RFXANK (L172P +3 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 643059	NM_003721.4(RFXANK):c.419_438+38del	RFXANK	Deletion (splice donor variant)	MHC class II deficiency	GLikely pathogenic
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
Select item 6599	NM_003721.4(RFXANK):c.271+1G>C	RFXANK	Single nucleotide variant (splice donor variant)	MHC class II deficiency +1 more	GPathogenic/Likely pathogenic

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