C0018523[trait identifier] AND "Genomic Research Center, Shahid Behesh - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 437451	NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter)	PANK2 (C312* +2 more)	Single nucleotide variant (nonsense +1 more)	Pigmentary pallidal degeneration	GPathogenic
Select item 587442	NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro)	PANK2 (R481P +3 more)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +1 more	GConflicting classifications of pathogenicity