"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 987165	NM_001386393.1(PANK2):c.209_231del (p.Glu70fs)	LOC130065345, PANK2 (E180fs +1 more)	Deletion (frameshift variant +3 more)	not provided	GPathogenic
Select item 846245	NM_001386393.1(PANK2):c.243del (p.Ser81fs)	LOC130065345, PANK2 (S191fs +1 more)	Deletion (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration +1 more	GPathogenic
Select item 987134	NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)	PANK2 (R264Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 987135	NM_001386393.1(PANK2):c.906-1G>A	PANK2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 987455	NM_001386393.1(PANK2):c.1245_1246insTA (p.Ile416Ter)	PANK2 (I235* +3 more)	Insertion (nonsense +1 more)	not provided	GLikely pathogenic
Select item 4556	NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)	MIR103A2, MIR103B2 +1 more (T237M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic

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