"Revvity Omics, Revvity"[submitter] AND "PANK2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324846	NM_001386393.1(PANK2):c.8dup (p.Leu5fs)	LOC130065345, PANK2 (L115fs +1 more)	Duplication (5 prime UTR variant +4 more)	not provided	GLikely pathogenic
Select item 1878518	NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs)	LOC130065345, PANK2 (R183fs +1 more)	Insertion (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration +1 more	GPathogenic
Select item 1323413	NM_001386393.1(PANK2):c.682G>T (p.Glu228Ter)	PANK2 (E228* +2 more)	Single nucleotide variant (nonsense +2 more)	Pigmentary pallidal degeneration +1 more	GPathogenic
Select item 945177	NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly)	PANK2 (D452G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2434575	NM_001386393.1(PANK2):c.1030_1055delinsATGGAGCC (p.Tyr344_Gly352delinsMetGluPro)	PANK2	Indel (inframe_indel +1 more)	not provided	GUncertain significance
Select item 812786	NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)	PANK2 (K478E +3 more)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +2 more	GConflicting classifications of pathogenicity

ClinVar