Related gene-specific medical variations for Gene (Select 7957) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065607	NM_005670.4(EPM2A):c.177del (p.Trp60fs)	EPM2A, EPM2A-DT +1 more (W60fs)	Deletion (frameshift variant +2 more)	Myoclonic epilepsy of Lafora 1	GLikely pathogenic
Select item 3065483	NM_005670.4(EPM2A):c.263T>A (p.Phe88Tyr)	EPM2A, EPM2A-DT +1 more (F88Y)	Single nucleotide variant (missense variant +2 more)	Myoclonic epilepsy of Lafora 1	GLikely pathogenic
Select item 3017867	NM_005670.4(EPM2A):c.30A>G (p.Pro10=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 3002374	NM_005670.4(EPM2A):c.291C>T (p.Leu97=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2974386	NM_005670.4(EPM2A):c.301+20G>A	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2965467	NM_005670.4(EPM2A):c.81C>G (p.Pro27=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2965144	NM_005670.4(EPM2A):c.168G>A (p.Glu56=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2959709	NM_005670.4(EPM2A):c.177G>A (p.Leu59=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2920265	NM_005670.4(EPM2A):c.159C>T (p.Ala53=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2884376	NM_005670.4(EPM2A):c.270G>A (p.Lys90=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2827898	NM_005670.4(EPM2A):c.201G>T (p.Ala67=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2812071	NM_005670.4(EPM2A):c.301+14A>G	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2809022	NM_005670.4(EPM2A):c.298_299delinsTT (p.Glu100Leu)	EPM2A, EPM2A-DT +1 more (E100L)	Indel (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2741382	NM_005670.4(EPM2A):c.69G>A (p.Val23=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2731865	NM_005670.4(EPM2A):c.81C>T (p.Pro27=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2714224	NM_005670.4(EPM2A):c.39G>T (p.Val13=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2705613	NM_005670.4(EPM2A):c.243G>C (p.Val81=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2578237	NM_005670.4(EPM2A):c.122G>T (p.Arg41Met)	LOC129997381, EPM2A +1 more (R41M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2558129	NM_005670.4(EPM2A):c.248C>A (p.Thr83Lys)	EPM2A, EPM2A-DT +1 more (T83K)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2533536	NM_005670.4(EPM2A):c.26T>C (p.Val9Ala)	EPM2A, EPM2A-DT +1 more (V9A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2431059	NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)	EPM2A, EPM2A-DT +1 more (W60*)	Single nucleotide variant (nonsense +2 more)	Progressive myoclonic epilepsy +1 more	GPathogenic/Likely pathogenic
Select item 2394183	NM_005670.4(EPM2A):c.133A>C (p.Thr45Pro)	EPM2A, EPM2A-DT +1 more (T45P)	Single nucleotide variant (missense variant +2 more)	EPM2A-related condition +1 more	GUncertain significance
Select item 2267175	NM_005670.4(EPM2A):c.161T>C (p.Leu54Pro)	EPM2A, EPM2A-DT +1 more (L54P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2198795	NM_005670.4(EPM2A):c.117C>T (p.Arg39=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2163978	NM_005670.4(EPM2A):c.171G>C (p.Pro57=)	LOC129997381, EPM2A +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2163210	NM_005670.4(EPM2A):c.267G>A (p.Leu89=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2161448	NM_005670.4(EPM2A):c.11G>A (p.Arg4His)	EPM2A, EPM2A-DT +1 more (R4H)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2136482	NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp)	EPM2A, EPM2A-DT +1 more (Y86D)	Single nucleotide variant (missense variant +3 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 2119363	NM_005670.4(EPM2A):c.126G>T (p.Pro42=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2099666	NM_005670.4(EPM2A):c.101C>T (p.Pro34Leu)	EPM2A, EPM2A-DT +1 more (P34L)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2096794	NM_005670.4(EPM2A):c.158_159inv (p.Ala53Gly)	EPM2A, EPM2A-DT +1 more (A53G)	Inversion (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2044072	NM_005670.4(EPM2A):c.148G>T (p.Gly50Trp)	EPM2A, EPM2A-DT +1 more (G50W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2024510	NM_005670.4(EPM2A):c.96G>A (p.Trp32Ter)	EPM2A, EPM2A-DT +1 more (W32*)	Single nucleotide variant (nonsense +2 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 2020620	NM_005670.4(EPM2A):c.301+2T>C	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant +1 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 2011875	NM_005670.4(EPM2A):c.118C>A (p.Leu40Met)	EPM2A, EPM2A-DT +1 more (L40M)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2009316	NM_005670.4(EPM2A):c.58C>G (p.Leu20Val)	EPM2A, EPM2A-DT +1 more (L20V)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2002221	NM_005670.4(EPM2A):c.155T>G (p.Leu52Arg)	EPM2A, EPM2A-DT +1 more (L52R)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2000259	NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)	EPM2A, EPM2A-DT +1 more (E100*)	Single nucleotide variant (nonsense +2 more)	Lafora disease +1 more	GConflicting classifications of pathogenicity
Select item 1982734	NM_005670.4(EPM2A):c.159C>A (p.Ala53=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1961770	NM_005670.4(EPM2A):c.125C>T (p.Pro42Leu)	EPM2A, EPM2A-DT +1 more (P42L)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1950539	NM_005670.4(EPM2A):c.258C>T (p.Tyr86=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1942962	NM_005670.4(EPM2A):c.194_214dup (p.Ala71_Ala72insGluLeuAlaAlaGluGluAla)	EPM2A, EPM2A-DT +1 more	Duplication (inframe_insertion +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1908597	NM_005670.4(EPM2A):c.4C>A (p.Arg2Ser)	EPM2A, EPM2A-DT +1 more (R2S)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1806900	NM_005670.4(EPM2A):c.553G>C (p.Gly185Arg)	EPM2A (G185R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1771515	NM_005670.4(EPM2A):c.138G>C (p.Ala46=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1750006	NM_005670.4(EPM2A):c.120G>C (p.Leu40=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	EPM2A-related condition +1 more	GLikely benign
Select item 1736010	NM_005670.4(EPM2A):c.38T>C (p.Val13Ala)	EPM2A, EPM2A-DT +1 more (V13A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1715937	NM_005670.4(EPM2A):c.130G>A (p.Gly44Ser)	EPM2A, EPM2A-DT +1 more (G44S)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1711642	NM_005670.4(EPM2A):c.98_121del (p.Glu33_Arg41delinsGly)	EPM2A, EPM2A-DT +1 more	Deletion (inframe_indel +2 more)	not provided	GUncertain significance
Select item 1668653	NM_005670.4(EPM2A):c.61C>T (p.Leu21=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1648013	NM_005670.4(EPM2A):c.154C>T (p.Leu52=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1642803	NM_005670.4(EPM2A):c.246C>T (p.Asp82=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1638938	NM_005670.4(EPM2A):c.301+11C>G	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1637584	NM_005670.4(EPM2A):c.42C>G (p.Ala14=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1623963	NM_005670.4(EPM2A):c.301+16del	LOC129997381, EPM2A +1 more	Deletion (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1616230	NM_005670.4(EPM2A):c.276G>A (p.Glu92=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1610185	NM_005670.4(EPM2A):c.120G>A (p.Leu40=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1566333	NM_005670.4(EPM2A):c.58C>T (p.Leu20=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1561620	NM_005670.4(EPM2A):c.301+16G>A	LOC129997381, EPM2A +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1537149	NM_005670.4(EPM2A):c.234G>A (p.Pro78=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1527303	GRCh37/hg19 6q24.3(chr6:145831293-145989428)	EPM2A	Copy number loss	not specified	GUncertain significance
Select item 1510680	NM_005670.4(EPM2A):c.301+1G>T	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant +1 more)	Progressive myoclonic epilepsy +1 more	GPathogenic
Select item 1508143	NM_005670.4(EPM2A):c.141G>A (p.Ala47=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1507173	NM_005670.4(EPM2A):c.166G>C (p.Glu56Gln)	EPM2A, EPM2A-DT +1 more (E56Q)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1507061	NM_005670.4(EPM2A):c.181C>G (p.Leu61Val)	EPM2A-DT, LOC129997381 +1 more (L61V)	Single nucleotide variant (5 prime UTR variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1482866	NM_005670.4(EPM2A):c.37G>C (p.Val13Leu)	LOC129997381, EPM2A-DT +1 more (V13L)	Single nucleotide variant (intron variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1481685	NM_005670.4(EPM2A):c.217C>G (p.Gln73Glu)	EPM2A, EPM2A-DT +1 more (Q73E)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1471835	NM_005670.4(EPM2A):c.92_124del (p.Arg31_Arg41del)	EPM2A, EPM2A-DT +1 more	Deletion (inframe_deletion +2 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 1451802	NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter)	EPM2A, EPM2A-DT +1 more (Y86*)	Single nucleotide variant (nonsense +2 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 1447364	NM_005670.4(EPM2A):c.169C>A (p.Pro57Thr)	EPM2A, EPM2A-DT +1 more (P57T)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1439299	NM_005670.4(EPM2A):c.249G>A (p.Thr83=)	LOC129997381, EPM2A +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1437770	NM_005670.4(EPM2A):c.86T>C (p.Leu29Pro)	EPM2A, EPM2A-DT +1 more (L29P)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 1422688	NM_005670.4(EPM2A):c.14T>G (p.Phe5Cys)	EPM2A, EPM2A-DT +1 more (F5C)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 1421725	NM_005670.4(EPM2A):c.70G>T (p.Gly24Trp)	EPM2A, EPM2A-DT +1 more (G24W)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1414714	NM_005670.4(EPM2A):c.55G>A (p.Glu19Lys)	EPM2A, EPM2A-DT +1 more (E19K)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1410425	NM_005670.4(EPM2A):c.64G>C (p.Val22Leu)	EPM2A, EPM2A-DT +1 more (V22L)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1389870	NM_005670.4(EPM2A):c.248C>T (p.Thr83Met)	EPM2A, EPM2A-DT +1 more (T83M)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1386609	NM_005670.4(EPM2A):c.281G>A (p.Gly94Glu)	EPM2A, EPM2A-DT +1 more (G94E)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1378218	NM_005670.4(EPM2A):c.223G>A (p.Gly75Arg)	EPM2A, EPM2A-DT +1 more (G75R)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1364884	NM_005670.4(EPM2A):c.22G>A (p.Val8Met)	EPM2A, EPM2A-DT +1 more (V8M)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1347725	NM_005670.4(EPM2A):c.59T>A (p.Leu20Gln)	EPM2A, EPM2A-DT +1 more (L20Q)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1322827	NM_005670.4(EPM2A):c.322del (p.Arg108fs)	EPM2A (R108fs)	Deletion (frameshift variant +2 more)	Lafora disease	GPathogenic
Select item 1290904	NM_005670.3(EPM2A):c.-47G>A	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217441	NM_005670.4(EPM2A):c.301+88_301+96del	EPM2A-DT, EPM2A +1 more	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1145263	NM_005670.4(EPM2A):c.45C>A (p.Gly15=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1139846	NM_005670.4(EPM2A):c.204C>A (p.Ala68=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1139845	NM_005670.4(EPM2A):c.261G>A (p.Lys87=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1137616	NM_005670.4(EPM2A):c.18G>A (p.Gly6=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1133175	NM_005670.4(EPM2A):c.159_160delinsGT (p.Ala53_Leu54=)	EPM2A, EPM2A-DT +1 more	Indel (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1127933	NM_005670.4(EPM2A):c.237C>T (p.Gly79=)	LOC129997381, EPM2A +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1110339	NM_005670.4(EPM2A):c.171G>A (p.Pro57=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1108184	NM_005670.4(EPM2A):c.36C>T (p.Ala12=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1106282	NM_005670.4(EPM2A):c.279G>A (p.Pro93=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1099385	NM_005670.4(EPM2A):c.9C>T (p.Phe3=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1095615	NM_005670.4(EPM2A):c.156G>A (p.Leu52=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1087035	NM_005670.4(EPM2A):c.111C>T (p.Ala37=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1078800	NM_005670.4(EPM2A):c.48C>A (p.Ala16=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1075527	NM_005670.4(EPM2A):c.108_139del (p.Ala37fs)	EPM2A, EPM2A-DT +1 more (A37fs)	Deletion (intron variant +2 more)	Lafora disease +1 more	GPathogenic
Select item 1068373	NM_005670.4(EPM2A):c.252C>G (p.Phe84Leu)	LOC129997381, EPM2A +1 more (F84L)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GLikely pathogenic
Select item 1068104	NM_005670.4(EPM2A):c.85C>G (p.Leu29Val)	EPM2A, EPM2A-DT +1 more (L29V)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GLikely pathogenic

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