Related gene-specific medical variations for Gene (Select 3786) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245517	NC_000008.10:g.(?_133141509)_(133198448_?)del	KCNQ3	Deletion	Benign neonatal seizures	GUncertain significance
Select item 2433030	NM_004519.4(KCNQ3):c.2572G>A (p.Asp858Asn)	KCNQ3 (D738N +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 2433029	NM_004519.4(KCNQ3):c.1445C>T (p.Ala482Val)	KCNQ3 (A362V +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 2433028	NM_004519.4(KCNQ3):c.2098C>T (p.His700Tyr)	KCNQ3 (H580Y +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 2430105	NM_004519.4(KCNQ3):c.1579T>C (p.Phe527Leu)	KCNQ3 (F407L +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 2428737	NM_004519.4(KCNQ3):c.883G>C (p.Glu295Gln)	KCNQ3 (E175Q +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 1696753	NM_004519.4(KCNQ3):c.387-19849G>A	KCNQ3	Single nucleotide variant (intron variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 1679577	NM_004519.4(KCNQ3):c.386+67111C>T	KCNQ3, LOC114827840	Single nucleotide variant (intron variant)	Seizures, benign familial neonatal, 2	GUncertain significance
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 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 975565	NM_004519.4(KCNQ3):c.1973A>G (p.Tyr658Cys)	KCNQ3 (Y538C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 932600	NM_004519.4(KCNQ3):c.194G>C (p.Gly65Ala)	KCNQ3 (G65A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 931102	NM_004519.4(KCNQ3):c.403G>C (p.Gly135Arg)	KCNQ3 (G15R +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 161570	NM_004519.4(KCNQ3):c.1346A>T (p.Asn449Ile)	KCNQ3 (N329I +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	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