"Invitae"[submitter] AND "IKBKE"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 720904	NM_014002.4(IKBKE):c.87+9C>A	IKBKE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 721003	NM_014002.4(IKBKE):c.516G>A (p.Ser172=)	IKBKE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769253	NM_014002.4(IKBKE):c.701+5G>A	IKBKE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 789556	NM_014002.4(IKBKE):c.906C>T (p.Thr302=)	IKBKE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778242	NM_014002.4(IKBKE):c.1134C>G (p.Pro378=)	IKBKE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance

ClinVar