C0018523[trait identifier] AND "Mendelics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193506	NM_001386393.1(PANK2):c.2T>A	PANK2, LOC130065345 (L111Q)	Single nucleotide variant (5 prime UTR variant +4 more)	not specified +2 more	GBenign/Likely benign
Select item 504213	NM_001386393.1(PANK2):c.175_182del (p.Ser59fs)	PANK2, LOC130065345 (S169fs +1 more)	Deletion (frameshift variant +3 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 803593	NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer)	LOC130065345, PANK2	Deletion (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration +2 more	GPathogenic/Likely pathogenic
Select item 803594	NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)	PANK2 (R357P +2 more)	Single nucleotide variant (missense variant +2 more)	Pigmentary pallidal degeneration	GPathogenic/Likely pathogenic
Select item 803595	NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser)	PANK2 (L58S +3 more)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GLikely pathogenic
Select item 648878	NM_001386393.1(PANK2):c.1207-3C>G	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration +1 more	GPathogenic/Likely pathogenic

ClinVar