ClinVar for MedGen (Select 1823988) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663807	NM_022080.3(NAPB):c.2T>G (p.Met1Arg)	LOC130065540, NAPB (M1R)	Single nucleotide variant (missense variant +3 more)	Developmental and epileptic encephalopathy-107	GUncertain significance
Select item 2572575	NM_022080.3(NAPB):c.333C>A (p.Tyr111Ter)	NAPB (Y111* +2 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy-107	GPathogenic
Select item 984717	NM_022080.3(NAPB):c.173G>A (p.Trp58Ter)	NAPB (W58*)	Single nucleotide variant (nonsense +2 more)	Developmental and epileptic encephalopathy-107	GPathogenic
Select item 978476	NM_022080.3(NAPB):c.421-1G>A	NAPB	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy-107 +1 more	GConflicting classifications of pathogenicity
Select item 234936	NM_022080.3(NAPB):c.479C>A (p.Ser160Ter)	NAPB (S160* +3 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy-107	GPathogenic

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