Full data view for gene EPM2A

Information The variants shown are described using the NM_001018041.1 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-47G>A r.(?) p.(=) Unknown - benign g.146056681C>T - EPM2A(NM_001360064.2):c.-114+363G>A - EPM2A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.? r.? p.? Both (homozygous) - likely pathogenic g.? - c.690delG (Trp230Terfs) - LAMA2_000000 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1799 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. 4 c.? r.? p.? Unknown - likely pathogenic g.? - c.929delT (Leu310Trpfs) - LAMA2_000000 no variant 2nd chromosome PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? R-0529 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. - c.88G>A r.(?) p.(Gly30Arg) Parent #1 - likely pathogenic g.146056547C>T g.145735411C>T - - EPM2A_000024 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796052434 Germline - 6/2730 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
+/. - c.94T>G r.(?) p.(Trp32Gly) Unknown - pathogenic g.146056541A>C g.145735405A>C - - EPM2A_000031 - PubMed: Salinas 2020 VCV000003107.1 - Unknown - - - - - DNA SEQ-NG - gene panel ? Pat49 PubMed: Salinas 2020 patient F - - - - - - - 1 Johan den Dunnen
-/. - c.159C>G r.(?) p.(Ala53=) Unknown - benign g.146056476G>C g.145735340G>C EPM2A(NM_001018041.2):c.159C>G (p.A53=), EPM2A(NM_005670.4):c.159C>G (p.A53=), EPM2A-DT(NR_038246.1):n.52+420G>C - EPM2A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.159C>G r.(?) p.(Ala53=) Unknown - benign g.146056476G>C g.145735340G>C EPM2A(NM_001018041.2):c.159C>G (p.A53=), EPM2A(NM_005670.4):c.159C>G (p.A53=), EPM2A-DT(NR_038246.1):n.52+420G>C - EPM2A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.159C>G r.(?) p.(Ala53=) Unknown - benign g.146056476G>C - EPM2A(NM_001018041.2):c.159C>G (p.A53=), EPM2A(NM_005670.4):c.159C>G (p.A53=), EPM2A-DT(NR_038246.1):n.52+420G>C - EPM2A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163C>A r.(?) p.(Gln55Lys) Unknown - likely benign g.146056472G>T g.145735336G>T EPM2A(NM_001018041.1):c.163C>A (p.(Gln55Lys)), EPM2A(NM_001018041.2):c.163C>A (p.Q55K), EPM2A(NM_005670.4):c.163C>A (p.Q55K) - EPM2A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163C>A r.(?) p.(Gln55Lys) Unknown - likely benign g.146056472G>T g.145735336G>T EPM2A(NM_001018041.1):c.163C>A (p.(Gln55Lys)), EPM2A(NM_001018041.2):c.163C>A (p.Q55K), EPM2A(NM_005670.4):c.163C>A (p.Q55K) - EPM2A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.163C>A r.(?) p.(Gln55Lys) Unknown - VUS g.146056472G>T g.145735336G>T EPM2A(NM_001018041.1):c.163C>A (p.(Gln55Lys)), EPM2A(NM_001018041.2):c.163C>A (p.Q55K), EPM2A(NM_005670.4):c.163C>A (p.Q55K) - EPM2A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.243_246del r.(?) p.(Asp82Argfs*7) Unknown ACMG pathogenic (recessive) g.146056389_146056392del g.145735253_145735256del - - EPM2A_000025 - - - - Germline yes - - - - DNA SEQ-NG Blood WES MELF LFR2 - - M no Italy - 13y - - - 1 Pietro Palumbo
-?/. - c.301+5T>C r.spl? p.? Unknown - likely benign g.146056329A>G g.145735193A>G EPM2A(NM_001018041.2):c.301+5T>C - EPM2A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.302-19720C>T r.(=) p.(=) Unknown - benign g.146027152G>A g.145706016G>A EPM2A(NM_001018041.2):c.302-19720C>T - EPM2A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.302-19652A>T r.(=) p.(=) Unknown - benign g.146027084T>A g.145705948T>A EPM2A(NM_001018041.2):c.302-19652A>T - EPM2A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.314A>G r.(?) p.(His105Arg) Unknown - VUS g.146007420T>C g.145686284T>C - - EPM2A_000003 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_672:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
?/. - c.323G>A r.(?) p.(Arg108His) Unknown - VUS g.146007411C>T - EPM2A(NM_005670.3):c.323G>A (p.R108H) - EPM2A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376A>G r.(?) p.(Ile126Val) Unknown - likely benign g.146007358T>C - EPM2A(NM_005670.3):c.376A>G (p.I126V) - EPM2A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393G>A r.(?) p.(Glu131=) Unknown - likely benign g.146007341C>T g.145686205C>T EPM2A(NM_001018041.2):c.393G>A (p.E131=) - EPM2A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.402G>A r.(?) p.(Gly134=) Unknown - benign g.146007332C>T g.145686196C>T EPM2A(NM_001018041.2):c.402G>A (p.G134=), EPM2A(NM_005670.4):c.402G>A (p.G134=) - EPM2A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.402G>A r.(?) p.(Gly134=) Unknown - benign g.146007332C>T - EPM2A(NM_001018041.2):c.402G>A (p.G134=), EPM2A(NM_005670.4):c.402G>A (p.G134=) - EPM2A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.476+92C>T r.(=) p.(=) Unknown - benign g.146007166G>A - EPM2A(NM_001360071.2):c.62+92C>T - EPM2A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.495G>A r.(?) p.(Trp165Ter) Unknown - VUS g.145956604C>T g.145635468C>T EPM2A(NM_005670.4):c.495G>A (p.W165*) - EPM2A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.508C>T r.(?) p.(Pro170Ser) Unknown - pathogenic g.145956591G>A g.145635455G>A EPM2A(NM_001018041.2):c.508C>T (p.P170S) - EPM2A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.568A>T r.(?) p.(Met190Leu) Unknown - likely benign g.145956531T>A g.145635395T>A EPM2A(NM_001018041.2):c.568A>T (p.M190L) - EPM2A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.680C>T r.(?) p.(Ala227Val) Unknown - likely benign g.145956419G>A - EPM2A(NM_005670.4):c.680C>T (p.A227V) - EPM2A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.681C>T r.(?) p.(Ala227=) Unknown - likely benign g.145956418G>A g.145635282G>A EPM2A(NM_001018041.2):c.681C>T (p.A227=) - EPM2A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.690G>T r.(?) p.(Trp230Cys) Unknown - VUS g.145956409C>A g.145635273C>A - - EPM2A_000002 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_52:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.718+62G>A r.(=) p.(=) Unknown - likely benign g.145956319C>T g.145635183C>T EPM2A(NM_001018041.2):c.718+62G>A - EPM2A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.718+62_718+65del r.(=) p.(=) Unknown - benign g.145956326_145956329del g.145635190_145635193del EPM2A(NM_001018041.2):c.718+62_718+65delGTCT, EPM2A(NM_001368130.1):c.780_783delGTCT (p.Y263Ifs*2) - EPM2A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.718+62_718+65del r.(=) p.(=) Unknown - benign g.145956326_145956329del - EPM2A(NM_001018041.2):c.718+62_718+65delGTCT, EPM2A(NM_001368130.1):c.780_783delGTCT (p.Y263Ifs*2) - EPM2A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.719-4G>A r.spl? p.? Unknown - likely benign g.145948833C>T g.145627697C>T EPM2A(NM_001018041.2):c.719-4G>A, EPM2A(NM_005670.3):c.719-4G>A - EPM2A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.719-4G>A r.spl? p.? Unknown - likely benign g.145948833C>T - EPM2A(NM_001018041.2):c.719-4G>A, EPM2A(NM_005670.3):c.719-4G>A - EPM2A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.721C>T r.(?) p.(Arg241Ter) Unknown - pathogenic g.145948827G>A g.145627691G>A EPM2A(NM_001018041.2):c.721C>T (p.R241*), EPM2A(NM_005670.3):c.721C>T (p.R241*) - EPM2A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.721C>T r.(?) p.(Arg241*) Both (homozygous) - pathogenic (recessive) g.145948827G>A g.145627691G>A - - EPM2A_000007 - - - rs104893950 Germline yes - - - - DNA SEQ-NG Blood - MELF LFR1 - - F no Italy - - - - - 1 Pietro Palumbo
+/. 4 c.721C>T r.(?) p.(Arg241*) Unknown ACMG pathogenic (recessive) g.145948827G>A g.145627691G>A - - EPM2A_000007 - - - rs104893950 Germline yes - - - - DNA SEQ-NG Blood WES MELF LFR2 - - M no Italy - 13y - - - 1 Pietro Palumbo
+?/. - c.721C>T r.(?) p.(Arg241Ter) Unknown - likely pathogenic g.145948827G>A - EPM2A(NM_001018041.2):c.721C>T (p.R241*), EPM2A(NM_005670.3):c.721C>T (p.R241*) - EPM2A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.721C>T r.(?) p.(Arg241*) Unknown ACMG pathogenic (recessive) g.145948827G>A g.145627691G>A - - EPM2A_000007 - - - - Germline yes - - - - DNA SEQ-NG - - MELF LFR5 - - M no Italy - - - - - 2 Pietro Palumbo
+/. 4 c.721C>T r.(?) p.(Arg241*) Both (homozygous) ACMG pathogenic (recessive) g.145948827G>A g.145627691G>A - - EPM2A_000007 - - - - Germline yes - - - - DNA SEQ-NG - - MELF LFR6 - - M no Italy - - - - - 2 Pietro Palumbo
./. - c.736C>T r.(?) p.(Pro246Ser) Unknown - VUS g.145948812G>A g.145627676G>A - - EPM2A_000001 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs141975071 Germline - 2/567 controls - - - DNA SEQ-NG - - Healthy/Control S_156:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.736C>T r.(?) p.(Pro246Ser) Unknown - VUS g.145948812G>A g.145627676G>A - - EPM2A_000001 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs141975071 Germline - 2/567 controls - - - DNA SEQ-NG - - Healthy/Control S_484:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.849T>C r.(?) p.(Tyr283=) Unknown - likely benign g.145948699A>G g.145627563A>G EPM2A(NM_001018041.2):c.849T>C (p.Y283=) - EPM2A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.859T>C r.(?) p.(Trp287Arg) Unknown - pathogenic g.145948689A>G g.145627553A>G EPM2A(NM_001018041.2):c.859T>C (p.W287R) - EPM2A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.900G>A r.(?) p.(Arg300=) Unknown - benign g.145948648C>T g.145627512C>T EPM2A(NM_001018041.2):c.900G>A (p.R300=) - EPM2A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*249T>C r.(=) p.(=) Unknown - benign g.145946582A>G g.145625446A>G EPM2A(NM_001018041.2):c.*249T>C - EPM2A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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