ClinVar for MedGen (Select 1813021) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 517623	NM_015909.4(NBAS):c.1987C>T (p.Gln663Ter)	NBAS (Q663*)	Single nucleotide variant (nonsense +1 more)	Infantile liver failure +1 more	GPathogenic/Likely pathogenic
Select item 501319	NM_015909.4(NBAS):c.2950del (p.Ile984fs)	NBAS (I984fs)	Deletion (frameshift variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +4 more	GPathogenic/Likely pathogenic