ClinVar for MedGen (Select 78738) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580936	NM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs)	CAPRIN1 (R297fs)	Deletion (frameshift variant)	Juvenile myoclonic epilepsy	GPathogenic
Select item 2136797	NM_000197.2(HSD17B3):c.139A>G (p.Met47Val)	HSD17B3, SLC35D2-HSD17B3 (M47V)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1810305	NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg)	CACNA1G (W2020R +23 more)	Single nucleotide variant (missense variant +2 more)	Juvenile myoclonic epilepsy +1 more	Gnot provided
Select item 848884	NM_018100.4(EFHC1):c.1286C>T (p.Pro429Leu)	EFHC1 (P429L +1 more)	Single nucleotide variant (missense variant +1 more)	Typical absence seizure +1 more	GUncertain significance
Select item 833385	NC_000006.12:g.(?_52479017)_(52492432_?)del	EFHC1	Deletion	Juvenile myoclonic epilepsy +3 more	GUncertain significance
Select item 832614	NC_000006.12:g.(?_52423789)_(52492432_?)del	EFHC1	Deletion	Juvenile myoclonic epilepsy +3 more	GUncertain significance
Select item 830045	NM_018100.4(EFHC1):c.1365T>C (p.Pro455=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 830042	NM_018100.4(EFHC1):c.723+18_723+19insG	EFHC1	Insertion (non-coding transcript variant +1 more)	Juvenile myoclonic epilepsy	Gassociation
Select item 802173	NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg)	GABRA1 (S299R)	Single nucleotide variant (missense variant)	Juvenile myoclonic epilepsy	GLikely pathogenic
Select item 802172	NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn)	GABRA1 (D90N)	Single nucleotide variant (missense variant)	Juvenile myoclonic epilepsy	GLikely pathogenic
Select item 646256	NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln)	EFHC1 (E181Q +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 580362	NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys)	EFHC1 (N55K +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +2 more	GUncertain significance
Select item 572744	NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys)	EFHC1 (R294C +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +2 more	GUncertain significance
Select item 451830	NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg)	CACNA1G (S1105R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 369311	NM_000726.4(CACNB4):c.-70G>A	CACNB4, LOC129934925	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GLikely benign
Select item 357529	NM_018100.4(EFHC1):c.*3406T>C	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 357528	NM_018100.4(EFHC1):c.*3192G>A	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 357527	NM_018100.4(EFHC1):c.*3144T>A	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 357526	NM_018100.4(EFHC1):c.*2972C>G	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 357525	NM_018100.4(EFHC1):c.*2913G>C	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357524	NM_018100.4(EFHC1):c.*2430C>T	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357523	NM_018100.4(EFHC1):c.*2419A>G	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 357522	NM_018100.4(EFHC1):c.*2211C>T	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357521	NM_018100.4(EFHC1):c.*2164G>A	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 357520	NM_018100.4(EFHC1):c.*2023T>C	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357519	NM_018100.4(EFHC1):c.*1876T>G	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357518	NM_018100.4(EFHC1):c.*1813dup	EFHC1	Duplication (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357517	NM_018100.4(EFHC1):c.1749_1750insAC	EFHC1	Insertion (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GBenign
Select item 357516	NM_018100.4(EFHC1):c.*1576C>A	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357515	NM_018100.4(EFHC1):c.*1490C>A	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 357514	NM_018100.4(EFHC1):c.*1481TC[1]	EFHC1	Microsatellite (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357513	NM_018100.4(EFHC1):c.*1325dup	EFHC1	Duplication (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GLikely benign
Select item 357512	NM_018100.4(EFHC1):c.*1180G>A	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 357511	NM_018100.4(EFHC1):c.*1064AC[4]	EFHC1	Microsatellite (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357510	NM_018100.4(EFHC1):c.*1045delinsATATATATATATATATATATATATATATATATA	EFHC1	Indel (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357509	NM_018100.4(EFHC1):c.*1045delinsATATATATATATA	EFHC1	Indel (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357508	NM_018100.4(EFHC1):c.*1025AT[9]	EFHC1	Microsatellite (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GLikely benign
Select item 357507	NM_018100.4(EFHC1):c.*1024C>T	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357506	NM_018100.4(EFHC1):c.*1025AT[21]	EFHC1	Microsatellite (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357505	NM_018100.4(EFHC1):c.*1025AT[20]	EFHC1	Microsatellite (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357504	NM_018100.4(EFHC1):c.*1025AT[19]	EFHC1	Microsatellite (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 357503	NM_018100.4(EFHC1):c.*1025AT[14]	EFHC1	Microsatellite (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357502	NM_018100.4(EFHC1):c.*1025AT[13]	EFHC1	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 357501	NM_018100.4(EFHC1):c.*1025AT[12]	EFHC1	Microsatellite (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GConflicting classifications of pathogenicity
Select item 357500	NM_018100.4(EFHC1):c.*957C>T	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357499	NM_018100.4(EFHC1):c.*896C>T	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 357498	NM_018100.4(EFHC1):c.*881A>T	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 357497	NM_018100.4(EFHC1):c.*871C>G	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 357496	NM_018100.4(EFHC1):c.*681G>A	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357495	NM_018100.4(EFHC1):c.*549TA[3]	EFHC1	Microsatellite (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357494	NM_018100.4(EFHC1):c.*527C>T	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357493	NM_018100.4(EFHC1):c.*392A>C	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 357492	NM_018100.4(EFHC1):c.*233T>A	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GLikely benign
Select item 357491	NM_018100.4(EFHC1):c.*226A>G	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357490	NM_018100.4(EFHC1):c.*140C>T	EFHC1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357489	NM_018100.4(EFHC1):c.*121C>A	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 357488	NM_018100.4(EFHC1):c.*99T>A	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357487	NM_018100.4(EFHC1):c.*66C>G	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357486	NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys)	EFHC1 (Y632C +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +2 more	GUncertain significance
Select item 357485	NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe)	EFHC1 (Y422F +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile myoclonic epilepsy +2 more	GUncertain significance
Select item 357484	NM_018100.4(EFHC1):c.1197T>C (p.Ala399=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357483	NM_018100.4(EFHC1):c.1194T>C (p.Phe398=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Juvenile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 357482	NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys)	EFHC1 (Y267C +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +2 more	GUncertain significance
Select item 357481	NM_018100.4(EFHC1):c.666_671del (p.Lys222_Val224delinsAsn)	EFHC1	Deletion (inframe_indel +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357480	NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn)	EFHC1 (D187N +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +3 more	GUncertain significance
Select item 357479	NM_018100.4(EFHC1):c.346A>G (p.Arg116Gly)	EFHC1 (R116G +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 357478	NM_018100.4(EFHC1):c.144C>T (p.Gly48=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +2 more	GConflicting classifications of pathogenicity
Select item 357477	NM_018100.3(EFHC1):c.-148_-147GC[1]	EFHC1	Microsatellite	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 357476	NM_018100.3(EFHC1):c.-162C>T	EFHC1	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 357475	NM_018100.3(EFHC1):c.-195A>G	EFHC1	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 352603	NM_001127644.2(GABRA1):c.*304del	GABRA1	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352601	NM_001127644.2(GABRA1):c.1290A>G (p.Leu430=)	GABRA1	Single nucleotide variant (synonymous variant)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 352593	NM_001127644.2(GABRA1):c.-117GACTCG[3]	GABRA1	Microsatellite (5 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 352584	NM_000806.5(GABRA1):c.-438del	GABRA1	Deletion (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352580	NM_000806.5(GABRA1):c.-442dup	GABRA1	Duplication (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332448	NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)	CHRNA1 (R107C +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 331637	NM_000726.4(CACNB4):c.-57G>T	CACNB4, LOC129934925	Single nucleotide variant (5 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331636	NM_000726.5(CACNB4):c.64-4C>T	CACNB4	Single nucleotide variant (intron variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331635	NM_000726.5(CACNB4):c.177G>A (p.Pro59=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 331634	NM_000726.5(CACNB4):c.187G>C (p.Asp63His)	CACNB4 (D63H +3 more)	Single nucleotide variant (missense variant +1 more)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331633	NM_000726.5(CACNB4):c.337G>T (p.Val113Phe)	CACNB4 (V113F +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, idiopathic generalized, susceptibility to, 9 +2 more	GUncertain significance
Select item 331632	NM_000726.5(CACNB4):c.521+9C>T	CACNB4	Single nucleotide variant (intron variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331631	NM_000726.5(CACNB4):c.642T>C (p.Asp214=)	CACNB4 (C190R +2 more)	Single nucleotide variant (synonymous variant +2 more)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331630	NM_000726.5(CACNB4):c.1278T>C (p.Tyr426=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331629	NM_000726.5(CACNB4):c.*151del	CACNB4	Deletion (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 331628	NM_000726.5(CACNB4):c.*151dup	CACNB4	Duplication (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331627	NM_000726.5(CACNB4):c.*442G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 331626	NM_000726.5(CACNB4):c.*443A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331625	NM_000726.5(CACNB4):c.442_443del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331624	NM_000726.5(CACNB4):c.*454del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331623	NM_000726.5(CACNB4):c.*454dup	CACNB4	Duplication (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331622	NM_000726.5(CACNB4):c.*528A>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331621	NM_000726.5(CACNB4):c.*592T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331620	NM_000726.5(CACNB4):c.*624A>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331619	NM_000726.5(CACNB4):c.*624del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign
Select item 331618	NM_000726.5(CACNB4):c.*737C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +2 more	GConflicting classifications of pathogenicity
Select item 331617	NM_000726.5(CACNB4):c.*787del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 331616	NM_000726.5(CACNB4):c.*795T>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331615	NM_000726.5(CACNB4):c.*865G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331614	NM_000726.5(CACNB4):c.*890G>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +2 more	GBenign

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