"GeneDx"[submitter] AND "KCNB2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 59789	GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3	C8orf89, ELOC +78 more	Copy number gain	See cases	GPathogenic
Select item 1297797	NM_004770.3(KCNB2):c.-93-154A>G	KCNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770572	NM_004770.3(KCNB2):c.156G>T (p.Thr52=)	KCNB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1282555	NM_004770.3(KCNB2):c.171C>G (p.Pro57=)	KCNB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 145672	GRCh38/hg38 8q21.11(chr8:72684692-72723399)x3	KCNB2	Copy number gain	See cases	GBenign/Likely benign
Select item 1263527	NM_004770.3(KCNB2):c.580-31A>T	KCNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226816	NM_004770.3(KCNB2):c.2613G>A (p.Val871=)	KCNB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic

ClinVar