C5436914[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689536	NM_001385012.1(NBEA):c.2924A>G (p.Lys975Arg)	NBEA (K975R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GConflicting classifications of pathogenicity
Select item 2572436	NM_001385012.1(NBEA):c.3001C>T (p.Arg1001Ter)	NBEA (R1001*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 2259472	NM_001385012.1(NBEA):c.5782G>A (p.Val1928Ile)	NBEA (V1928I +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2572437	NM_001385012.1(NBEA):c.8321G>A (p.Trp2774Ter)	NBEA (W2753* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 1687393	NM_001385012.1(NBEA):c.8358C>A (p.Asn2786Lys)	NBEA (N2765K +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1705514	NM_001385012.1(NBEA):c.8467G>A (p.Gly2823Ser)	NBEA (G2802S +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2444422	NM_001385012.1(NBEA):c.8660G>A (p.Arg2887Gln)	NBEA (R2866Q +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance