CN375952[trait identifier] AND "OMIM"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685999	NM_002032.3(FTH1):c.512_513del (p.Leu170_Phe171insTer)	BEST1, FTH1	Deletion (nonsense +1 more)	Neurodegeneration with brain iron accumulation 9	GPathogenic
Select item 2685998	NM_002032.3(FTH1):c.487_490dup (p.Ser164Ter)	BEST1, FTH1 (S164*)	Duplication (nonsense +1 more)	Neurodegeneration with brain iron accumulation 9	GPathogenic