ClinVar for MedGen (Select 388595) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067831	NM_153033.5(KCTD7):c.835_840del (p.Arg279_Pro280del)	KCTD7	Deletion (inframe_deletion)	Progressive myoclonic epilepsy type 3	GLikely pathogenic
Select item 3065135	NM_153033.5(KCTD7):c.368G>A (p.Arg123Gln)	KCTD7 (R123Q)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 3023551	NM_153033.5(KCTD7):c.618C>G (p.Leu206=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 3019935	NM_153033.5(KCTD7):c.144+8GGCGGGC[3]	KCTD7, LOC129998533	Microsatellite (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 3010462	NM_153033.5(KCTD7):c.642G>C (p.Arg214=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 3008500	NM_153033.5(KCTD7):c.145-5del	KCTD7	Deletion (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 3003687	NM_153033.5(KCTD7):c.279C>T (p.Gly93=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2992649	NM_153033.5(KCTD7):c.345C>T (p.Asp115=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2986728	NM_153033.5(KCTD7):c.295C>A (p.Arg99=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2985451	NM_153033.5(KCTD7):c.12C>G (p.Val4=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2964218	NM_153033.5(KCTD7):c.145-6T>C	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2916750	NM_153033.5(KCTD7):c.144+21_144+27dup	KCTD7, LOC129998533	Duplication (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2911825	NM_153033.5(KCTD7):c.129C>T (p.Pro43=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2900569	NM_153033.5(KCTD7):c.315-8C>G	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2893134	NM_153033.5(KCTD7):c.564C>G (p.Leu188=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2886818	NM_153033.5(KCTD7):c.612T>C (p.Cys204=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2858634	NM_153033.5(KCTD7):c.402C>A (p.Ile134=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2851053	NM_153033.5(KCTD7):c.714G>A (p.Val238=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2847129	NM_153033.5(KCTD7):c.144+8G>A	KCTD7, LOC129998533	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2809289	NM_153033.5(KCTD7):c.315-15T>C	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2806066	NM_153033.5(KCTD7):c.177G>T (p.Gly59=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2785843	NM_153033.5(KCTD7):c.145-19C>T	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2785780	NM_153033.5(KCTD7):c.144+7G>A	KCTD7, LOC129998533	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2776987	NM_153033.5(KCTD7):c.252G>A (p.Arg84=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2727614	NM_153033.5(KCTD7):c.759G>T (p.Ser253=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2724422	NM_153033.5(KCTD7):c.315-17C>T	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2722390	NM_153033.5(KCTD7):c.130dup (p.Leu44fs)	KCTD7, LOC129998533 (L44fs)	Duplication (frameshift variant)	Progressive myoclonic epilepsy type 3	GPathogenic
Select item 2716601	NM_153033.5(KCTD7):c.315-4T>A	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2701208	NM_153033.5(KCTD7):c.144+15G>A	KCTD7, LOC129998533	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2671704	NM_153033.5(KCTD7):c.294C>T (p.Asp98=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely pathogenic
Select item 2583118	NM_153033.5(KCTD7):c.518T>A (p.Ile173Asn)	KCTD7 (I173N)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2502292	NM_153033.5(KCTD7):c.207_214del (p.Cys71fs)	KCTD7 (C71fs)	Deletion (frameshift variant)	Progressive myoclonic epilepsy type 3	GLikely pathogenic
Select item 2433050	NM_153033.5(KCTD7):c.481C>T (p.Pro161Ser)	KCTD7 (P161S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2427427	NC_000007.13:g.(?_66094052)_(66103438_?)dup	KCTD7	Duplication	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2427426	NC_000007.13:g.(?_66094052)_(66094215_?)dup	KCTD7	Duplication	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2202517	NM_153033.5(KCTD7):c.145-19C>G	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2200920	NM_153033.5(KCTD7):c.494-19G>A	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2181664	NM_153033.5(KCTD7):c.699G>A (p.Gly233=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2177648	NM_153033.5(KCTD7):c.681A>T (p.Glu227Asp)	KCTD7 (E227D)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2176496	NM_153033.5(KCTD7):c.351A>G (p.Pro117=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2174410	NM_153033.5(KCTD7):c.448G>A (p.Glu150Lys)	KCTD7 (E150K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2168099	NM_153033.5(KCTD7):c.520G>A (p.Ala174Thr)	KCTD7 (A174T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GLikely pathogenic
Select item 2164909	NM_153033.5(KCTD7):c.367C>T (p.Arg123Ter)	KCTD7 (R123*)	Single nucleotide variant (nonsense)	Progressive myoclonic epilepsy type 3	GPathogenic
Select item 2153202	NM_153033.5(KCTD7):c.169A>G (p.Ile57Val)	KCTD7 (I57V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2152465	NM_153033.5(KCTD7):c.517A>C (p.Ile173Leu)	KCTD7 (I173L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2150901	NM_153033.5(KCTD7):c.143A>G (p.Glu48Gly)	KCTD7, LOC129998533 (E48G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2147275	NM_153033.5(KCTD7):c.807G>T (p.Lys269Asn)	KCTD7 (K269N)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2143232	NM_153033.5(KCTD7):c.528G>C (p.Leu176=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2134914	NM_153033.5(KCTD7):c.363T>C (p.Arg121=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2131613	NM_153033.5(KCTD7):c.616C>A (p.Leu206Ile)	KCTD7 (L206I)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2118466	NM_153033.5(KCTD7):c.9A>G (p.Val3=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2116095	NM_153033.5(KCTD7):c.339A>G (p.Ser113=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2112557	NM_153033.5(KCTD7):c.330C>T (p.Phe110=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2099032	NM_153033.5(KCTD7):c.314+19A>C	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2081839	NM_153033.5(KCTD7):c.493+3G>C	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2076443	NM_153033.5(KCTD7):c.639G>A (p.Glu213=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2021748	NM_153033.5(KCTD7):c.205C>T (p.Leu69=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2010977	NM_153033.5(KCTD7):c.77A>G (p.Asp26Gly)	KCTD7, LOC129998533 (D26G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2005793	NM_153033.5(KCTD7):c.494A>G (p.Asp165Gly)	KCTD7 (D165G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2002247	NM_153033.5(KCTD7):c.472G>A (p.Gly158Arg)	KCTD7 (G158R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1999457	NM_153033.5(KCTD7):c.109C>G (p.Gln37Glu)	KCTD7, LOC129998533 (Q37E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1998821	NM_153033.5(KCTD7):c.493+16C>T	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1995340	NM_153033.5(KCTD7):c.235G>A (p.Ala79Thr)	KCTD7 (A79T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1991699	NM_153033.5(KCTD7):c.128C>T (p.Pro43Leu)	KCTD7, LOC129998533 (P43L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1967644	NM_153033.5(KCTD7):c.144+18G>A	KCTD7, LOC129998533	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1961536	NM_153033.5(KCTD7):c.102G>A (p.Thr34=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1950810	NM_153033.5(KCTD7):c.224C>T (p.Thr75Ile)	KCTD7 (T75I)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1939630	NM_153033.5(KCTD7):c.315-5C>G	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1931742	NM_153033.5(KCTD7):c.431T>A (p.Met144Lys)	KCTD7 (M144K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1917813	NM_153033.5(KCTD7):c.385G>A (p.Ala129Thr)	KCTD7 (A129T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1901647	NM_153033.5(KCTD7):c.419A>G (p.Gln140Arg)	KCTD7 (Q140R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1900906	NM_153033.5(KCTD7):c.505C>T (p.Arg169Trp)	KCTD7 (R169W)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1878517	NM_153033.5(KCTD7):c.569T>C (p.Val190Ala)	KCTD7 (V190A)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1716197	NM_153033.5(KCTD7):c.501G>C (p.Leu167Phe)	KCTD7 (L167F)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1715017	NM_153033.5(KCTD7):c.628C>G (p.Leu210Val)	KCTD7 (L210V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1693304	NM_153033.5(KCTD7):c.727G>A (p.Asp243Asn)	KCTD7 (D243N)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1687469	NM_153033.5(KCTD7):c.346C>T (p.Leu116Phe)	KCTD7 (L116F)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1685903	NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln)	KCTD7 (R94Q)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GConflicting classifications of pathogenicity
Select item 1672718	NM_153033.5(KCTD7):c.494-11C>T	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1672183	NM_153033.5(KCTD7):c.216C>T (p.Tyr72=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1668446	NM_153033.5(KCTD7):c.315-32_315-17del	KCTD7	Deletion (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1650639	NM_153033.5(KCTD7):c.81T>C (p.Phe27=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1650052	NM_153033.5(KCTD7):c.314+13C>T	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1640011	NM_153033.5(KCTD7):c.494-14G>A	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1625984	NM_153033.5(KCTD7):c.145-17T>A	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1621850	NM_153033.5(KCTD7):c.111G>A (p.Gln37=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1620172	NM_153033.5(KCTD7):c.315-4T>C	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1617527	NM_153033.5(KCTD7):c.519C>T (p.Ile173=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1615248	NM_153033.5(KCTD7):c.342G>A (p.Gly114=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1615227	NM_153033.5(KCTD7):c.123G>T (p.Ala41=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1612944	NM_153033.5(KCTD7):c.258C>T (p.Tyr86=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1589946	NM_153033.5(KCTD7):c.792C>T (p.Ile264=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1571860	NM_153033.5(KCTD7):c.810C>T (p.His270=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1569543	NM_153033.5(KCTD7):c.145-15G>T	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1551158	NM_153033.5(KCTD7):c.82C>T (p.Leu28=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1543505	NM_153033.5(KCTD7):c.493+14G>C	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1539829	NM_153033.5(KCTD7):c.494-7C>T	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1532932	NM_153033.5(KCTD7):c.813C>T (p.Leu271=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1517989	NM_153033.5(KCTD7):c.266C>T (p.Thr89Met)	KCTD7 (T89M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1513406	NM_153033.5(KCTD7):c.71A>G (p.Glu24Gly)	KCTD7, LOC129998533 (E24G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance

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