"GeneDx"[submitter] AND "EPM2A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144906	GRCh38/hg38 6q24.2-24.3(chr6:144764447-145609129)x3	EPM2A, LOC123864093 +7 more	Copy number gain	See cases	GUncertain significance
Select item 1197768	NM_005670.4(EPM2A):c.*1970T>C	EPM2A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1198769	NM_005670.4(EPM2A):c.*1688AG[1]	EPM2A	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1227152	NM_005670.4(EPM2A):c.*1639C>T	EPM2A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1230296	NM_005670.4(EPM2A):c.*1472G>A	EPM2A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1216701	NM_005670.4(EPM2A):c.*172A>G	EPM2A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1290853	NM_005670.4(EPM2A):c.*163T>G	EPM2A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 205448	NM_005670.4(EPM2A):c.992T>C (p.Leu331Pro)	EPM2A (L331P +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1310726	NM_005670.4(EPM2A):c.989G>T (p.Ser330Ile)	EPM2A (S176I +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 205423	NM_005670.4(EPM2A):c.974G>A (p.Arg325His)	EPM2A (R325H +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 669041	NM_005670.4(EPM2A):c.927C>G (p.Ala309=)	EPM2A	Single nucleotide variant (3 prime UTR variant +3 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 660962	NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys)	EPM2A (E169K +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 511983	NM_005670.4(EPM2A):c.903G>A (p.Pro301=)	EPM2A (G221S)	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 137220	NM_005670.4(EPM2A):c.903G>C (p.Pro301=)	EPM2A (G221R)	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 205434	NM_005670.4(EPM2A):c.878A>T (p.Gln293Leu)	EPM2A (Q293L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 391537	NM_005670.4(EPM2A):c.876G>A (p.Val292=)	EPM2A (A212T)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 387240	NM_005670.4(EPM2A):c.870G>A (p.Arg290=)	EPM2A (E210K)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 137219	NM_005670.4(EPM2A):c.849T>C (p.Tyr283=)	EPM2A (C203R)	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 1310889	NM_005670.4(EPM2A):c.847T>A (p.Tyr283Asn)	EPM2A (V202E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 462934	NM_005670.4(EPM2A):c.825G>A (p.Ala275=)	EPM2A (G195S)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1034932	NM_005670.4(EPM2A):c.824C>T (p.Ala275Val)	EPM2A (A121V +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 387503	NM_005670.4(EPM2A):c.822C>T (p.Thr274=)	EPM2A (R194C)	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 205447	NM_005670.4(EPM2A):c.818C>G (p.Ser273Cys)	EPM2A (S273C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 430074	NM_005670.4(EPM2A):c.815G>A (p.Arg272His)	EPM2A (R272H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 810002	NM_005670.4(EPM2A):c.814C>T (p.Arg272Cys)	EPM2A (R134C +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 390520	NM_005670.4(EPM2A):c.801C>T (p.Asn267=)	EPM2A (R187C)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 392758	NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu)	EPM2A (G259E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 137218	NM_005670.4(EPM2A):c.762G>A (p.Ala254=)	EPM2A (A174T)	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 590090	NM_005670.4(EPM2A):c.761C>T (p.Ala254Val)	EPM2A (A254V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 429342	NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)	EPM2A (A116fs +3 more)	Indel (frameshift variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 462933	NM_005670.4(EPM2A):c.745G>T (p.Val249Leu)	EPM2A (V249L +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 383679	NM_005670.4(EPM2A):c.744G>A (p.Ala248=)	EPM2A (G168S)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 411297	NM_005670.4(EPM2A):c.743C>T (p.Ala248Val)	EPM2A (A248V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 377059	NM_005670.4(EPM2A):c.736C>T (p.Pro246Ser)	EPM2A (P246S +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 516054	NM_005670.4(EPM2A):c.726A>G (p.Val242=)	EPM2A (T162A)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 205435	NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)	EPM2A (R241Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 3098	NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	EPM2A (R241* +3 more)	Single nucleotide variant (nonsense +2 more)	Progressive myoclonic epilepsy +3 more	GPathogenic
Select item 129006	NM_005670.4(EPM2A):c.719-4G>A	EPM2A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1201964	NM_005670.4(EPM2A):c.719-301C>T	EPM2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190040	NM_005670.4(EPM2A):c.719-324T>C	EPM2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 377830	NM_005670.4(EPM2A):c.718+19C>G	EPM2A (S246C)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +1 more	GBenign
Select item 531807	NM_005670.4(EPM2A):c.706A>G (p.Met236Val)	EPM2A (M236V +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 416699	NM_005670.4(EPM2A):c.681C>T (p.Ala227=)	EPM2A	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy +2 more	GLikely benign
Select item 196413	NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)	EPM2A (A227V +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 205429	NM_005670.4(EPM2A):c.644A>T (p.Asp215Val)	EPM2A (D215V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 205428	NM_005670.4(EPM2A):c.620G>A (p.Arg207His)	EPM2A (R207H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 588602	NM_005670.4(EPM2A):c.595G>T (p.Val199Leu)	EPM2A (V199L +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 205427	NM_005670.4(EPM2A):c.553G>A (p.Gly185Arg)	EPM2A (G185R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1313235	NM_005670.4(EPM2A):c.496C>G (p.Leu166Val)	EPM2A (L12V +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 381553	NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter)	EPM2A (W165* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 567836	NM_005670.4(EPM2A):c.490A>G (p.Ile164Val)	EPM2A (I164V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1310165	NM_005670.4(EPM2A):c.488A>C (p.Asn163Thr)	EPM2A (N163T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 205426	NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser)	EPM2A (N163S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 373201	NM_005670.4(EPM2A):c.487A>G (p.Asn163Asp)	EPM2A (N163D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 668384	NM_005670.4(EPM2A):c.477-13A>G	EPM2A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1239465	NM_005670.4(EPM2A):c.477-171C>G	EPM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676969	NM_005670.4(EPM2A):c.477-215G>A	EPM2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677709	NM_005670.4(EPM2A):c.476+151A>T	EPM2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670732	NM_005670.4(EPM2A):c.476+92C>T	EPM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291580	NM_005670.4(EPM2A):c.476+35A>T	EPM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 205446	NM_005670.4(EPM2A):c.303_476+1del	EPM2A	Deletion (splice acceptor variant +2 more)	not provided	GPathogenic
Select item 423471	NM_005670.4(EPM2A):c.466_469dup (p.Tyr157fs)	EPM2A (Y157fs +1 more)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 205439	NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr)	EPM2A (I149T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 373591	NM_005670.4(EPM2A):c.435C>A (p.Phe145Leu)	EPM2A (F145L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 462931	NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser)	EPM2A (N137S)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 129005	NM_005670.4(EPM2A):c.402G>A (p.Gly134=)	EPM2A	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign
Select item 1392779	NM_005670.4(EPM2A):c.397A>G (p.Thr133Ala)	EPM2A (T133A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 390460	NM_005670.4(EPM2A):c.396C>T (p.Ala132=)	EPM2A	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 129004	NM_005670.4(EPM2A):c.393G>A (p.Glu131=)	EPM2A	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 205438	NM_005670.4(EPM2A):c.379G>A (p.Gly127Arg)	EPM2A (G127R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 167038	NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)	EPM2A (I126V)	Single nucleotide variant (missense variant +2 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1062703	NM_005670.4(EPM2A):c.338A>G (p.Asn113Ser)	EPM2A (N113S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 531802	NM_005670.4(EPM2A):c.323G>A (p.Arg108His)	EPM2A (R108H)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 660550	NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp)	EPM2A (N102D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1196135	NM_005670.4(EPM2A):c.302-133T>A	EPM2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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