"GeneDx"[submitter] AND "KCNJ16"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1289569	NC_000017.11:g.70075206C>T	KCNJ16	Single nucleotide variant	not provided	GBenign
Select item 60172	GRCh38/hg38 17q24.3(chr17:70093968-70709796)x3	KCNJ16, KCNJ2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 1270035	NM_170741.4(KCNJ16):c.-299-141T>C	KCNJ16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 517056	NM_170741.4(KCNJ16):c.-191+1=	KCNJ16	Single nucleotide variant (splice donor variant)	not provided +1 more	GBenign
Select item 1274410	NM_170741.4(KCNJ16):c.-191+7669G>A	KCNJ16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228894	NM_170741.4(KCNJ16):c.-191+7733A>C	KCNJ16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293328	NM_170741.4(KCNJ16):c.-190-229A>G	KCNJ16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706680	NM_170741.4(KCNJ16):c.-190-164A>G	KCNJ16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291190	NM_170741.4(KCNJ16):c.-94+74T>A	KCNJ16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175594	NM_170741.4(KCNJ16):c.-94+77C>T	KCNJ16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327751	NM_170741.4(KCNJ16):c.-94+218_-94+219insA	KCNJ16	Insertion (intron variant)	not provided	GBenign
Select item 1317397	NM_170741.4(KCNJ16):c.-94+219C>A	KCNJ16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275437	NM_170741.4(KCNJ16):c.-94+234dup	KCNJ16	Duplication (intron variant)	not provided	GBenign
Select item 1224739	NM_170741.4(KCNJ16):c.-94+234del	KCNJ16	Deletion (intron variant)	not provided	GBenign
Select item 1266075	NM_170741.4(KCNJ16):c.31A>G (p.Ile11Val)	KCNJ16 (I11V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1234459	NM_170741.4(KCNJ16):c.672A>C (p.Thr224=)	KCNJ16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789845	NM_170741.4(KCNJ16):c.1233A>G (p.Arg411=)	KCNJ16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1291191	NM_170741.4(KCNJ16):c.*150del	KCNJ16	Deletion (3 prime UTR variant)	not provided	GBenign