"GeneDx"[submitter] AND "LOC129997381"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 378892	NM_005670.4(EPM2A):c.301+20G>T	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 385490	NM_005670.4(EPM2A):c.301+5T>C	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 387544	NM_005670.4(EPM2A):c.301+4T>C	EPM2A-DT, EPM2A +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 205437	NM_005670.4(EPM2A):c.241G>A (p.Val81Met)	EPM2A, EPM2A-DT +1 more (V81M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 193326	NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg)	EPM2A, EPM2A-DT +1 more (G79R)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +3 more	GUncertain significance
Select item 943699	NM_005670.4(EPM2A):c.226G>C (p.Ala76Pro)	EPM2A, EPM2A-DT +1 more (A76P)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 205433	NM_005670.4(EPM2A):c.209A>T (p.Glu70Val)	EPM2A, EPM2A-DT +1 more (E70V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 265122	NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)	LOC129997381, EPM2A +1 more (E70Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GUncertain significance
Select item 205432	NM_005670.4(EPM2A):c.193G>A (p.Glu65Lys)	EPM2A, EPM2A-DT +1 more (E65K)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 589823	NM_005670.4(EPM2A):c.190G>A (p.Val64Met)	LOC129997381, EPM2A +1 more (V64M)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 137217	NM_005670.4(EPM2A):c.171G>T (p.Pro57=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 205431	NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter)	LOC129997381, EPM2A +1 more (E56*)	Single nucleotide variant (nonsense +2 more)	Myoclonic epilepsy of Lafora 1 +1 more	GPathogenic
Select item 419335	NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)	EPM2A, EPM2A-DT +1 more (Q55*)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 129003	NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys)	LOC129997381, EPM2A +1 more (Q55K)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +3 more	GBenign
Select item 512941	NM_005670.4(EPM2A):c.162G>A (p.Leu54=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 205450	NM_005670.4(EPM2A):c.157_159delinsACG (p.Ala53Thr)	EPM2A, EPM2A-DT +1 more (A53T)	Indel (missense variant +2 more)	not specified	GUncertain significance
Select item 95306	NM_005670.4(EPM2A):c.159C>G (p.Ala53=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign
Select item 205430	NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr)	EPM2A, EPM2A-DT +1 more (A53T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 392977	NM_005670.4(EPM2A):c.152C>A (p.Ala51Asp)	EPM2A, EPM2A-DT +1 more (A51D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 513367	NM_005670.4(EPM2A):c.150G>A (p.Gly50=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 205425	NM_005670.4(EPM2A):c.149G>A (p.Gly50Glu)	EPM2A, EPM2A-DT +1 more (G50E)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 205424	NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg)	EPM2A, EPM2A-DT +1 more (G50R)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +3 more	GUncertain significance
Select item 377829	NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp)	EPM2A-DT, LOC129997381 +1 more (G48D)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 205444	NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)	EPM2A, EPM2A-DT +1 more (A46T)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 162617	NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)	EPM2A-DT, LOC129997381 +1 more (A46P)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 137223	NM_005670.4(EPM2A):c.129C>G (p.Ala43=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 956069	NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer)	EPM2A, EPM2A-DT +1 more	Deletion (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1087035	NM_005670.4(EPM2A):c.111C>T (p.Ala37=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 514700	NM_005670.4(EPM2A):c.102G>A (p.Pro34=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 511540	NM_005670.4(EPM2A):c.102G>C (p.Pro34=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 205449	NM_005670.4(EPM2A):c.100C>G (p.Pro34Ala)	EPM2A, EPM2A-DT +1 more (P34A)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 3107	NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)	EPM2A, EPM2A-DT +1 more (W32G)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GPathogenic/Likely pathogenic
Select item 205443	NM_005670.4(EPM2A):c.88G>A (p.Gly30Arg)	EPM2A, EPM2A-DT +1 more (G30R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 205442	NM_005670.4(EPM2A):c.77G>T (p.Arg26Leu)	EPM2A, EPM2A-DT +1 more (R26L)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 509594	NM_005670.4(EPM2A):c.75G>C (p.Ser25=)	EPM2A-DT, LOC129997381 +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 387226	NM_005670.4(EPM2A):c.66G>A (p.Val22=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 205441	NM_005670.4(EPM2A):c.44G>A (p.Gly15Asp)	EPM2A, EPM2A-DT +1 more (G15D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 137222	NM_005670.4(EPM2A):c.24G>A (p.Val8=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1137616	NM_005670.4(EPM2A):c.18G>A (p.Gly6=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 205440	NM_005670.4(EPM2A):c.4C>T (p.Arg2Cys)	EPM2A, EPM2A-DT +1 more (R2C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 386673	NM_005670.4(EPM2A):c.-3G>A	EPM2A-DT, LOC129997381 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 137221	NM_005670.4(EPM2A):c.-15C>A	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 392021	NM_005670.3(EPM2A):c.-27C>T	EPM2A-DT, LOC129997381 +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 386979	NM_005670.3(EPM2A):c.-41G>A	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1290904	NM_005670.3(EPM2A):c.-47G>A	LOC129997381, EPM2A +1 more	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 47