"Ambry Genetics"[submitter] AND "EPM2A"[gene] - ClinVar

Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1358980	NM_005670.4(EPM2A):c.934C>T (p.Arg312Trp)	EPM2A (R158W +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 2549892	NM_005670.4(EPM2A):c.896A>C (p.Lys299Thr)	EPM2A (K145T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 3276031	NM_005670.4(EPM2A):c.806G>A (p.Gly269Glu)	EPM2A (G115E +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1761009	NM_005670.4(EPM2A):c.788_792delinsCCCTTCTGCCCAC (p.Tyr263fs)	EPM2A (R183fs +3 more)	Indel (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1761008	NM_005670.4(EPM2A):c.788_791dup (p.His265fs)	EPM2A (A184fs +3 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1760844	NM_005670.4(EPM2A):c.783C>T (p.Ile261=)	EPM2A (R181C)	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 640416	NM_005670.4(EPM2A):c.758A>T (p.His253Leu)	EPM2A (H115L +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
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 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 1757463	NM_005670.4(EPM2A):c.716A>T (p.Glu239Val)	EPM2A (E85V +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 2881775	NM_005670.4(EPM2A):c.698C>T (p.Thr233Ile)	EPM2A (T79I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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 1421919	NM_005670.4(EPM2A):c.676T>G (p.Leu226Val)	EPM2A (L226V +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 576169	NM_005670.4(EPM2A):c.632C>T (p.Pro211Leu)	EPM2A (P211L +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +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 1114232	NM_005670.4(EPM2A):c.546T>C (p.His182=)	EPM2A	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 1744753	NM_005670.4(EPM2A):c.500G>A (p.Gly167Asp)	EPM2A (G29D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2552934	NM_005670.4(EPM2A):c.448G>T (p.Ala150Ser)	EPM2A (A12S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2301575	NM_005670.4(EPM2A):c.425C>T (p.Thr142Ile)	EPM2A (T4I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 1737606	NM_005670.4(EPM2A):c.407C>A (p.Thr136Asn)	EPM2A (T136N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 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 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 1734049	NM_005670.4(EPM2A):c.369T>C (p.Cys123=)	EPM2A	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 842001	NM_005670.4(EPM2A):c.352G>A (p.Val118Met)	EPM2A (V118M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1154494	NM_005670.4(EPM2A):c.348C>T (p.Asn116=)	EPM2A	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 416698	NM_005670.4(EPM2A):c.345C>T (p.Asn115=)	EPM2A	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 1051013	NM_005670.4(EPM2A):c.301+5T>G	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 964502	NM_005670.4(EPM2A):c.278C>T (p.Pro93Leu)	EPM2A, EPM2A-DT +1 more (P93L)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 2558129	NM_005670.4(EPM2A):c.248C>A (p.Thr83Lys)	EPM2A, EPM2A-DT +1 more (T83K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 1046134	NM_005670.4(EPM2A):c.212C>A (p.Ala71Glu)	EPM2A, EPM2A-DT +1 more (A71E)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +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 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 462930	NM_005670.4(EPM2A):c.170C>T (p.Pro57Leu)	EPM2A, EPM2A-DT +1 more (P57L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 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 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 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 1771515	NM_005670.4(EPM2A):c.138G>C (p.Ala46=)	EPM2A-DT, EPM2A +1 more	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
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 2394183	NM_005670.4(EPM2A):c.133A>C (p.Thr45Pro)	EPM2A, EPM2A-DT +1 more (T45P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 1750006	NM_005670.4(EPM2A):c.120G>C (p.Leu40=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	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 1437770	NM_005670.4(EPM2A):c.86T>C (p.Leu29Pro)	LOC129997381, EPM2A +1 more (L29P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 942675	NM_005670.4(EPM2A):c.82G>A (p.Glu28Lys)	EPM2A, EPM2A-DT +1 more (E28K)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
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 588340	NM_005670.4(EPM2A):c.43G>A (p.Gly15Ser)	EPM2A, EPM2A-DT +1 more (G15S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 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

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Items: 73