"OMIM"[submitter] AND "LOC130065345"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4561	NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter)	LOC130065345, PANK2 (S178*)	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GPathogenic
Select item 4549	NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)	LOC130065345, PANK2 (Y190*)	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GPathogenic