"Mendelics"[submitter] AND "NR0B2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5427	NM_021969.3(NR0B2):c.583G>T (p.Ala195Ser)	NR0B2, NUDC (A195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 636300	NM_021969.3(NR0B2):c.227del (p.Phe76fs)	NR0B2, NUDC (F76fs)	Deletion (frameshift variant)	Obesity	GPathogenic
Select item 636299	NM_021969.3(NR0B2):c.157_166del (p.His53fs)	NR0B2, NUDC (H53fs)	Deletion (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity

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