"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446012	NM_006267.5(RANBP2):c.73-6T>A	RANBP2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 377321	NM_006267.5(RANBP2):c.1535C>T (p.Pro512Leu)	RANBP2 (P512L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 445847	NM_006267.5(RANBP2):c.2351G>A (p.Arg784Lys)	RANBP2 (R784K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 417861	NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val)	RANBP2 (L1076V)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy +2 more	GConflicting classifications of pathogenicity
Select item 445641	NM_006267.5(RANBP2):c.7751A>G (p.Asp2584Gly)	RANBP2 (D2584G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 377298	NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val)	RANBP2 (I2803V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign

ClinVar