C5436914[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585622	NM_001385012.1(NBEA):c.2864A>G (p.Lys955Arg)	NBEA (K955R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2663954	NM_001385012.1(NBEA):c.6166G>A (p.Ala2056Thr)	NBEA (A2053T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance