"Revvity Omics, Revvity"[submitter] AND "LOC130065345"[gene] - ClinVar

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	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