ClinVar for MedGen (Select 78658) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024390	NM_018671.5(UNC45A):c.-98G>T	LOC130057954, UNC45A	Single nucleotide variant (genic upstream transcript variant +2 more)	Cholestasis-edema syndrome, Norwegian type	GPathogenic
Select item 1491159	NM_018671.5(UNC45A):c.766dup (p.Ala256fs)	UNC45A (A241fs +2 more)	Duplication (frameshift variant)	Cholestasis-edema syndrome, Norwegian type +1 more	GConflicting classifications of pathogenicity