"Baylor Genetics"[submitter] AND "RANBP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028496	NM_006267.5(RANBP2):c.775C>G (p.Leu259Val)	RANBP2 (L259V)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 8365	NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val)	RANBP2 (I656V)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GConflicting classifications of pathogenicity
Select item 469452	NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn)	RANBP2 (K1121N)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GConflicting classifications of pathogenicity
Select item 961380	NM_006267.5(RANBP2):c.7125C>A (p.Asp2375Glu)	RANBP2 (D2375E)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 5853	NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)	EDAR, RANBP2 (R420Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +3 more	GPathogenic/Likely pathogenic
Select item 2442005	NM_022336.4(EDAR):c.1057C>T (p.Leu353Phe)	EDAR, RANBP2 (L353F)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more	GUncertain significance
Select item 625546	GRCh37/hg19 2q12.3-13(chr2:109301074-110482930)	CCDC138, EDAR +4 more	Copy number loss	not provided	GLikely pathogenic

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