"Invitae"[submitter] AND "BEND2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 783905	NM_153346.5(BEND2):c.2352G>A (p.Glu784=)	BEND2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786703	NM_153346.5(BEND2):c.1739G>T (p.Gly580Val)	BEND2 (G489V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783906	NM_153346.5(BEND2):c.782T>G (p.Val261Gly)	BEND2 (V261G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786704	NM_153346.5(BEND2):c.594G>T (p.Gln198His)	BEND2 (Q198H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788157	NM_153346.5(BEND2):c.586G>A (p.Glu196Lys)	BEND2 (E196K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 783907	NM_153346.5(BEND2):c.548G>T (p.Ser183Ile)	BEND2 (S183I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2424642	NC_000023.10:g.(?_17393881)_(18665472_?)dup	BEND2, CDKL5 +5 more	Duplication	Angelman syndrome-like +1 more	GUncertain significance
Select item 2424639	NC_000023.10:g.(?_17393881)_(18525300_?)del	BEND2, CDKL5 +4 more	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 1041824	NC_000023.10:g.(?_17393881)_(20284750_?)dup	ADGRG2, BCLAF3 +15 more	Duplication	Angelman syndrome-like +1 more	GUncertain significance
Select item 832827	NC_000023.10:g.(?_17393861)_(18671684_?)dup	BEND2, CDKL5 +5 more	Duplication	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 584356	NC_000023.10:g.(?_17393861)_(18671684_?)del	SCML2, BEND2 +5 more	Deletion	Angelman syndrome-like +1 more	GPathogenic