"PreventionGenetics, part of Exact Sciences"[submitter] AND "RFX5"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 573595	NM_001025603.2(RFX5):c.1805G>A (p.Ser602Asn)	RFX5 (S602N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2636809	NM_001025603.2(RFX5):c.1569G>T (p.Glu523Asp)	RFX5 (E483D +1 more)	Single nucleotide variant (missense variant)	RFX5-related disorder	GUncertain significance
Select item 292610	NM_001025603.2(RFX5):c.1495C>T (p.Pro499Ser)	RFX5 (P499S +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency +1 more	GBenign
Select item 2634797	NM_001025603.2(RFX5):c.1391G>A (p.Arg464Lys)	RFX5 (R424K +1 more)	Single nucleotide variant (missense variant)	RFX5-related disorder	GUncertain significance
Select item 471254	NM_001025603.2(RFX5):c.1185A>G (p.Gly395=)	RFX5	Single nucleotide variant (synonymous variant)	RFX5-related disorder +1 more	GLikely benign
Select item 755881	NM_001025603.2(RFX5):c.678C>T (p.Val226=)	RFX5	Single nucleotide variant (synonymous variant)	RFX5-related disorder +1 more	GLikely benign
Select item 292617	NM_001025603.2(RFX5):c.590G>A (p.Arg197Gln)	RFX5 (R197Q +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency +2 more	GBenign
Select item 2628863	NM_001025603.2(RFX5):c.555+1G>A	RFX5	Single nucleotide variant (splice donor variant)	RFX5-related disorder	GLikely pathogenic
Select item 3051084	NM_001025603.2(RFX5):c.353+9A>T	RFX5	Single nucleotide variant (intron variant)	RFX5-related disorder	GLikely benign
Select item 720155	NM_001025603.2(RFX5):c.222T>G (p.Thr74=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency +1 more	GBenign/Likely benign
Select item 2628868	NM_001025603.2(RFX5):c.103C>T (p.Arg35Ter)	RFX5 (R35*)	Single nucleotide variant (nonsense)	RFX5-related disorder	GLikely pathogenic