"GeneDx"[submitter] AND "KCNE3"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 1270048	NM_005472.4(KCNE3):c.*80A>G	KCNE3	Single nucleotide variant	not provided	GBenign
Select item 137979	NM_005472.4(KCNE3):c.*17C>T	KCNE3	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 1259952	NM_005472.5(KCNE3):c.*3C>T	KCNE3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 5542	NM_005472.5(KCNE3):c.296G>A (p.Arg99His)	KCNE3 (R99H)	Single nucleotide variant (missense variant)	Brugada syndrome +3 more	GConflicting classifications of pathogenicity
Select item 190801	NM_005472.5(KCNE3):c.263G>A (p.Arg88His)	KCNE3 (R88H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 5541	NM_005472.5(KCNE3):c.248G>A (p.Arg83His)	KCNE3, LIPT2 (R83H)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +8 more	GConflicting classifications of pathogenicity
Select item 259778	NM_005472.5(KCNE3):c.198T>C (p.Phe66=)	KCNE3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 523951	NM_005472.5(KCNE3):c.69del (p.Thr24fs)	KCNE3 (T24fs)	Deletion (frameshift variant)	not provided +2 more	GUncertain significance
Select item 390437	NM_005472.5(KCNE3):c.48C>T (p.Ala16=)	KCNE3	Single nucleotide variant (synonymous variant)	Brugada syndrome 6 +1 more	GLikely benign
Select item 387176	NM_005472.5(KCNE3):c.21G>A (p.Thr7=)	KCNE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 190800	NM_005472.5(KCNE3):c.20C>T (p.Thr7Met)	KCNE3 (T7M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 373687	NM_005472.5(KCNE3):c.-12A>G	KCNE3	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 681496	NM_005472.5(KCNE3):c.-19del	KCNE3	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 382508	NM_005472.5(KCNE3):c.-30G>A	KCNE3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 378000	NM_005472.5(KCNE3):c.-40-17T>C	KCNE3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 683555	NM_005472.5(KCNE3):c.-40-334A>G	KCNE3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257660	NM_005472.5(KCNE3):c.-190+236G>T	KCNE3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292509	NM_005472.5(KCNE3):c.-190+120del	KCNE3	Deletion (intron variant)	not provided	GBenign
Select item 1275881	NM_005472.5(KCNE3):c.-190+119G>T	KCNE3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 190799	NM_005472.5(KCNE3):c.-190+18C>T	KCNE3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 137980	NM_005472.5(KCNE3):c.-190+14C>G	KCNE3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 306082	NM_005472.4(KCNE3):c.-238G>A	KCNE3	Single nucleotide variant	not provided	GBenign
Select item 1237458	NM_005472.5(KCNE3):c.-244G>A	KCNE3	Single nucleotide variant (5 prime UTR variant)	Brugada syndrome 6 +1 more	GBenign
Select item 1270163	NM_005472.5(KCNE3):c.-245A>G	KCNE3	Single nucleotide variant (5 prime UTR variant)	Brugada syndrome 6 +1 more	GBenign
Select item 1318161	NC_000011.10:g.74467603C>T	KCNE3	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27