"GeneReviews"[submitter] AND "KCNQ3"[gene] - ClinVar

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

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21412	NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser)	KCNQ3 (N821S +1 more)	Single nucleotide variant (missense variant)	Benign Neonatal Epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 405218	NM_004519.4(KCNQ3):c.2338C>T (p.Arg780Cys)	KCNQ3 (R780C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 205988	NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn)	KCNQ3 (D755N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 21411	NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)	KCNQ3 (P574S +1 more)	Single nucleotide variant (missense variant)	Benign Neonatal Epilepsy +6 more	GBenign/Likely benign
Select item 978935	NM_004519.4(KCNQ3):c.1657G>A (p.Gly553Arg)	KCNQ3 (G433R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 21410	NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser)	KCNQ3 (N468S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 21409	NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly)	KCNQ3 (E414G +1 more)	Single nucleotide variant (missense variant)	Benign Neonatal Epilepsy +5 more	GBenign
Select item 433110	NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val)	KCNQ3 (A381V +1 more)	Single nucleotide variant (missense variant)	Childhood epilepsy with centrotemporal spikes	GPathogenic
Select item 934997	NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His)	KCNQ3 (R244H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1319941	NM_004519.4(KCNQ3):c.1066G>A (p.Ala356Thr)	KCNQ3 (A236T +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	GLikely pathogenic
Select item 1334437	NM_004519.4(KCNQ3):c.1019G>T (p.Gly340Val)	KCNQ3 (G220V +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	Gnot provided
Select item 1334436	NM_004519.4(KCNQ3):c.989G>T (p.Arg330Leu)	KCNQ3 (R210L +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GPathogenic
Select item 852086	NM_004519.4(KCNQ3):c.989G>A (p.Arg330His)	KCNQ3 (R210H +1 more)	Single nucleotide variant (missense variant)	KCNQ3-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 21417	NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)	KCNQ3 (R330C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 661030	NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr)	KCNQ3 (I317T +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +3 more	GPathogenic/Likely pathogenic
Select item 7392	NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val)	KCNQ3 (G310V +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	GPathogenic
Select item 21415	NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg)	KCNQ3 (W309R +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	GPathogenic
Select item 420680	NM_004519.4(KCNQ3):c.923G>C (p.Trp308Ser)	KCNQ3 (W188S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 21414	NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly)	KCNQ3 (D305G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 21413	NM_004519.4(KCNQ3):c.895G>A (p.Glu299Lys)	KCNQ3 (E299K +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	Gnot provided
Select item 1334438	NM_004519.4(KCNQ3):c.835G>T (p.Val279Phe)	KCNQ3 (V159F +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	Gnot provided
Select item 205963	NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	KCNQ3 (R230C +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +9 more	GPathogenic/Likely pathogenic
Select item 975970	NM_004519.4(KCNQ3):c.680G>A (p.Arg227Gln)	KCNQ3 (R107Q +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +2 more	GConflicting classifications of pathogenicity

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: 23