C5436914[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805346	NM_001385012.1(NBEA):c.358T>A (p.Cys120Ser)	NBEA (C120S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1805836	NM_001385012.1(NBEA):c.3806del (p.Asp1269fs)	NBEA (D1269fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GPathogenic
Select item 1805208	NM_001385012.1(NBEA):c.4367T>C (p.Ile1456Thr)	NBEA (I1453T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1699484	NM_001385012.1(NBEA):c.6304+5G>T	NBEA	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1699255	NM_001385012.1(NBEA):c.7502T>C (p.Ile2501Thr)	NBEA (I2498T +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1805330	NM_001385012.1(NBEA):c.7568A>T (p.Tyr2523Phe)	NBEA (Y2520F +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1805371	NM_001385012.1(NBEA):c.8657C>T (p.Thr2886Ile)	NBEA (T2865I +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance