ClinVar for MedGen (Select 377707) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578394	NM_004519.4(KCNQ3):c.1120C>G (p.Pro374Ala)	KCNQ3 (P254A +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	GLikely pathogenic
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 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 1707007	NM_004519.4(KCNQ3):c.2060A>G (p.Tyr687Cys)	KCNQ3 (Y567C +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +3 more	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 1581804	NM_004519.4(KCNQ3):c.1568+8C>T	KCNQ3	Single nucleotide variant (intron variant)	Seizures, benign familial neonatal, 2 +1 more	GLikely benign
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 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 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 1313762	NM_004519.4(KCNQ3):c.1706A>G (p.Asp569Gly)	KCNQ3 (D449G +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +2 more	GUncertain significance
Select item 1034514	NM_004519.4(KCNQ3):c.1582C>T (p.Arg528Cys)	KCNQ3 (R408C +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +1 more	GUncertain significance
Select item 1032216	NM_004519.4(KCNQ3):c.477G>A (p.Leu159=)	KCNQ3	Single nucleotide variant (synonymous variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 1002077	NM_004519.4(KCNQ3):c.1520C>G (p.Pro507Arg)	KCNQ3 (P387R +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 998162	NM_004519.4(KCNQ3):c.104_105del (p.Ala35fs)	KCNQ3 (A35fs)	Deletion (frameshift variant)	Seizures, benign familial neonatal, 2	GLikely pathogenic
Select item 978935	NM_004519.4(KCNQ3):c.1657G>A (p.Gly553Arg)	KCNQ3 (G433R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 975970	NM_004519.4(KCNQ3):c.680G>A (p.Arg227Gln)	KCNQ3 (R107Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 935235	NM_004519.4(KCNQ3):c.2295C>A (p.Asp765Glu)	KCNQ3 (D765E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 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 911878	NM_004519.4(KCNQ3):c.-206C>T	KCNQ3	Single nucleotide variant (5 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 911877	NM_004519.4(KCNQ3):c.-133A>G	KCNQ3	Single nucleotide variant (5 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GConflicting classifications of pathogenicity
Select item 911825	NM_004519.4(KCNQ3):c.1568+15G>A	KCNQ3	Single nucleotide variant (intron variant)	Benign neonatal seizures +1 more	GBenign/Likely benign
Select item 911824	NM_004519.4(KCNQ3):c.1656C>A (p.Ala552=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures +1 more	GLikely benign
Select item 911823	NM_004519.4(KCNQ3):c.1665C>T (p.Leu555=)	KCNQ3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 911782	NM_004519.4(KCNQ3):c.*72C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 911781	NM_004519.4(KCNQ3):c.*75T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 911780	NM_004519.4(KCNQ3):c.*82C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 911779	NM_004519.4(KCNQ3):c.*316T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 911711	NM_004519.4(KCNQ3):c.*1937A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GBenign
Select item 911710	NM_004519.4(KCNQ3):c.*1962G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 911647	NM_004519.4(KCNQ3):c.*3665C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 911583	NM_004519.4(KCNQ3):c.*4816C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 911582	NM_004519.4(KCNQ3):c.*4947G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GBenign
Select item 911581	NM_004519.4(KCNQ3):c.*4947G>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GBenign
Select item 911518	NM_004519.4(KCNQ3):c.*6359C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 911461	NM_004519.4(KCNQ3):c.*7408G>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 911460	NM_004519.4(KCNQ3):c.*7461G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GBenign
Select item 911263	NM_004519.4(KCNQ3):c.*7923G>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 911262	NM_004519.4(KCNQ3):c.*8102G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910651	NM_004519.4(KCNQ3):c.15G>T (p.Ala5=)	KCNQ3	Single nucleotide variant (synonymous variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910650	NM_004519.4(KCNQ3):c.150G>A (p.Val50=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures +1 more	GConflicting classifications of pathogenicity
Select item 910649	NM_004519.4(KCNQ3):c.282C>G (p.Ser94Arg)	KCNQ3 (S94R)	Single nucleotide variant (missense variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 910597	NM_004519.4(KCNQ3):c.1707T>C (p.Asp569=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures +1 more	GBenign/Likely benign
Select item 910596	NM_004519.4(KCNQ3):c.1788G>A (p.Gln596=)	KCNQ3	Single nucleotide variant (synonymous variant)	Seizures, benign familial neonatal, 2 +1 more	GConflicting classifications of pathogenicity
Select item 910595	NM_004519.4(KCNQ3):c.1884+5G>C	KCNQ3	Single nucleotide variant (intron variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 910541	NM_004519.4(KCNQ3):c.*660G>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910540	NM_004519.4(KCNQ3):c.*717C>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910539	NM_004519.4(KCNQ3):c.*740A>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910538	NM_004519.4(KCNQ3):c.*749C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910537	NM_004519.4(KCNQ3):c.*755T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910481	NM_004519.4(KCNQ3):c.*2026G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910480	NM_004519.4(KCNQ3):c.*2044C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910479	NM_004519.4(KCNQ3):c.*2092G>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910478	NM_004519.4(KCNQ3):c.*2143G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910477	NM_004519.4(KCNQ3):c.*2197C>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910476	NM_004519.4(KCNQ3):c.*2268T>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910369	NM_004519.4(KCNQ3):c.*4983T>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910368	NM_004519.4(KCNQ3):c.*5004G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GBenign
Select item 910367	NM_004519.4(KCNQ3):c.*5369G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910366	NM_004519.4(KCNQ3):c.*5423T>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910365	NM_004519.4(KCNQ3):c.*5454T>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910306	NM_004519.4(KCNQ3):c.*6384A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910305	NM_004519.4(KCNQ3):c.*6455G>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910304	NM_004519.4(KCNQ3):c.*6665A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910303	NM_004519.4(KCNQ3):c.*6725A>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 909734	NM_004519.4(KCNQ3):c.591C>T (p.Pro197=)	KCNQ3	Single nucleotide variant (synonymous variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 909733	NM_004519.4(KCNQ3):c.616C>T (p.Leu206=)	KCNQ3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 909732	NM_004519.4(KCNQ3):c.848A>T (p.Glu283Val)	KCNQ3 (E163V +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 909731	NM_004519.4(KCNQ3):c.873A>C (p.Ala291=)	KCNQ3	Single nucleotide variant (synonymous variant)	Seizures, benign familial neonatal, 2 +1 more	GConflicting classifications of pathogenicity
Select item 909669	NM_004519.4(KCNQ3):c.2014A>G (p.Lys672Glu)	KCNQ3 (K552E +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 909609	NM_004519.4(KCNQ3):c.*838C>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 909608	NM_004519.4(KCNQ3):c.*991G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 909607	NM_004519.4(KCNQ3):c.*1070T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 909606	NM_004519.4(KCNQ3):c.*1171C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 909549	NM_004519.4(KCNQ3):c.*2393A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GBenign
Select item 909548	NM_004519.4(KCNQ3):c.*2555G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 909547	NM_004519.4(KCNQ3):c.*2556C>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 909489	NM_004519.4(KCNQ3):c.*4036G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GBenign
Select item 909488	NM_004519.4(KCNQ3):c.*4122A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 909419	NM_004519.4(KCNQ3):c.*5622C>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 909339	NM_004519.4(KCNQ3):c.*6913A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 909338	NM_004519.4(KCNQ3):c.*7044C>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 908873	NM_004519.4(KCNQ3):c.1140+14G>A	KCNQ3	Single nucleotide variant (intron variant)	Benign neonatal seizures +1 more	GConflicting classifications of pathogenicity
Select item 908872	NM_004519.4(KCNQ3):c.1332A>G (p.Leu444=)	KCNQ3	Single nucleotide variant (synonymous variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 908756	NM_004519.4(KCNQ3):c.*1184A>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 908755	NM_004519.4(KCNQ3):c.*1308C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 908754	NM_004519.4(KCNQ3):c.*1340C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 908753	NM_004519.4(KCNQ3):c.*1384G>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 908693	NM_004519.4(KCNQ3):c.*3066A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 908629	NM_004519.4(KCNQ3):c.*4279C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GBenign
Select item 908628	NM_004519.4(KCNQ3):c.*4456A>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GConflicting classifications of pathogenicity
Select item 908627	NM_004519.4(KCNQ3):c.*4484G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 908626	NM_004519.4(KCNQ3):c.*4795A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 908558	NM_004519.4(KCNQ3):c.*5971C>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GConflicting classifications of pathogenicity
Select item 908557	NM_004519.4(KCNQ3):c.*6035G>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 908556	NM_004519.4(KCNQ3):c.*6042A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance

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