Full data view for gene MEF2C

Information The variants shown are described using the NM_002397.4 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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     
+/. _1_1i c.(-420000_-403871)_(-143+9022_-142-1)del r.0? p.0? Unknown - likely pathogenic (dominant) g.(88119748_88169750)_(88582500_88598629)del g.(88823931_88873933)_(89286683_89302812)del hg18 g.88205506_88618256del - MEF2C_000033 412 kb deletion PubMed: Mikhail 2011, Journal: Mikhail 2011 - - De novo - - - 0 - DNA arrayCGH, FISH - - ? Pat2 PubMed: Mikhail 2011, Journal: Mikhail 2011 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.-21293_-142-22763delinsC r.0? p.? Unknown - pathogenic (dominant) g.88142510_88347193delinsG g.88846693_88904105delinsG NC_000005.10(NM_001131005.2):c.-429_-142-22763delinsC - MEF2C_000035 decreased expression Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Lee 2019 ClinVar-000863437.1 - De novo - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblast WES ? Pat31 PubMed: Lee 2019 - - - United States - - 0 - - 1 Johan den Dunnen
+?/. - c.2T>A r.(?) p.(Met1?) Unknown - likely pathogenic g.88119604A>T g.88823787A>T MEF2C(NM_002397.4):c.2T>A (p.M1?) - MEF2C_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.88119604A>G g.88823787A>G MEF2C(NM_002397.4):c.2T>C (p.M1?) - MEF2C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.5G>A r.(?) p.(Gly2Glu) Unknown - - g.88119601C>T - - - MEF2C_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.40G>A r.(?) p.(Glu14Lys) Unknown - VUS g.88119566C>T g.88823749C>T - - MEF2C_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.45dup r.(?) p.(Asn16LysfsTer19) Unknown ACMG likely pathogenic g.88119561dup g.88823744dup 45dupT - MEF2C_000041 ACMG PVS1, PM2 PubMed: Johannesen 2020 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - candidate gene panel epilepsy Pat19 PubMed: Johannesen 2020 - F - Denmark - - 0 - - 1 Johan den Dunnen
?/. - c.53A>G r.(?) p.(Gln18Arg) Unknown - VUS g.88119553T>C g.88823736T>C - - MEF2C_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.54+13A>T r.(=) p.(=) Unknown - likely benign g.88119539T>A g.88823722T>A MEF2C(NM_002397.4):c.54+13A>T - MEF2C_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.80G>C r.(?) p.(Gly27Ala) Unknown - pathogenic g.88100593C>G g.88804776C>G MEF2C(NM_002397.4):c.80G>C (p.G27A) - MEF2C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.104T>C r.(?) p.(Leu35Pro) Unknown - likely pathogenic g.88100569A>G g.88804752A>G - - MEF2C_000002 - - - - De novo yes - - 0 - DNA SEQ-NG-I blood - ID P21 - - F no China - >02y04m - - - 1 Wenjuan Qiu
+/. - c.113T>A r.(?) p.(Leu38Gln) Unknown - pathogenic g.88100560A>T g.88804743A>T MEF2C(NM_002397.4):c.113T>A (p.L38Q) - MEF2C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.113T>C r.(?) p.(Leu38Pro) Unknown ACMG pathogenic (dominant) g.88100560A>G g.88804743A>G - - MEF2C_000040 - PubMed: Helbig 2016 - - De novo - - - 0 - DNA SEQ-NG - WES seizures Pat67 PubMed: Helbig 2016 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.115T>C r.(?) p.(Cys39Arg) Unknown - pathogenic (dominant) g.88100558A>G g.88804741A>G Cys39Arg - MEF2C_000039 - PubMed: Carvill 2013 - - De novo - - - 0 - DNA SEQ, SEQ-NG - 65-gene panel EE T23549 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - 1 Johan den Dunnen
+/. - c.123_124del r.(?) p.(Cys41*) Unknown ACMG pathogenic (dominant) g.88100551_88100552del g.88804734_88804735del 123_124delTG - MEF2C_000038 - PubMed: Helbig 2016 - - De novo - - - 0 - DNA SEQ-NG - WES seizures Pat66 PubMed: Helbig 2016 - - - United States - - 0 - - 1 Johan den Dunnen
+?/. - c.258G>A r.(?) p.(Glu86=) Unknown - likely pathogenic g.88100415C>T g.88804598C>T - - MEF2C_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.309G>A r.(?) p.(Ala103=) Unknown - likely benign g.88057095C>T g.88761278C>T MEF2C(NM_002397.4):c.309G>A (p.A103=) - MEF2C_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363C>T r.(?) p.(Asn121=) Unknown - likely benign g.88057041G>A g.88761224G>A MEF2C(NM_002397.4):c.363C>T (p.N121=) - MEF2C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.401_402+2del r.spl? p.? Unknown - likely pathogenic g.88057003_88057006del g.88761186_88761189del MEF2C(NM_002397.5):c.401_402+2delGTGT - MEF2C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.471C>G r.(?) p.(Tyr157*) Parent #1 - pathogenic g.88047792G>C g.88751975G>C - - MEF2C_000023 - PubMed: Yuan 2017 - - Germline yes - - 0 - DNA SEQ blood - CMD 28902616-proband-fam PubMed: Yuan 2017 proband, affected daughter (26y) and brother (49y), father (48y) died of heart failure - ? China Han Chinese - 0 - - 3 Jilani Jawaid
./. - c.498_502delinsA r.(?) p.(Asn166Lysfs*20) Unknown - pathogenic g.88047761_88047765delTGinsT g.88751944_88751948delinsT - - MEF2C_000001 Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message. PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-?/. - c.508T>C r.(?) p.(Leu170=) Unknown - likely benign g.88047755A>G g.88751938A>G MEF2C(NM_002397.4):c.508T>C (p.L170=) - MEF2C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.658C>T r.(?) p.(Arg220Ter) Unknown - pathogenic g.88027698G>A g.88731881G>A - - MEF2C_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.683C>G r.(?) p.(Ser228Ter) Unknown - pathogenic g.88027673G>C g.88731856G>C MEF2C(NM_002397.4):c.683C>G (p.S228*) - MEF2C_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.766C>T r.(?) p.(Arg256*) Parent #1 - pathogenic g.88027590G>A g.88731773G>A - - MEF2C_000036 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs796052733 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.798G>A r.(?) p.(Thr266=) Unknown - likely benign g.88027558C>T g.88731741C>T MEF2C(NM_002397.4):c.798G>A (p.T266=) - MEF2C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.798G>A r.(?) p.(Thr266=) Unknown - likely benign g.88027558C>T g.88731741C>T MEF2C(NM_002397.4):c.798G>A (p.T266=) - MEF2C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.811-12G>A r.(=) p.(=) Unknown - likely benign g.88026063C>T g.88730246C>T MEF2C(NM_002397.4):c.811-12G>A - MEF2C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.834+181_834+182del r.(=) p.(=) Unknown - benign g.88025855_88025856del g.88730038_88730039del MEF2C(NM_002397.4):c.834+181_834+182delTT - MEF2C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.834+182del r.(=) p.(=) Unknown - benign g.88025856del g.88730039del MEF2C(NM_002397.4):c.834+182delT - MEF2C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.835-128A>G r.(=) p.(=) Unknown - benign g.88025292T>C g.88729475T>C MEF2C(NM_002397.4):c.835-128A>G - MEF2C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.835-10_835-7del r.(=) p.(=) Unknown - likely benign g.88025178_88025181del g.88729361_88729364del MEF2C(NM_001131005.2):c.805-10_805-7del (p.(=)) - MEF2C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.835-2A>G r.spl? p.? Unknown - pathogenic g.88025166T>C g.88729349T>C MEF2C(NM_002397.4):c.835-2A>G - MEF2C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.965-2A>G r.spl? p.? Unknown - pathogenic g.88024447T>C g.88728630T>C MEF2C(NM_002397.5):c.965-2A>G - MEF2C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.994T>C r.(?) p.(Ser332Pro) Unknown - VUS g.88024416A>G g.88728599A>G MEF2C(NM_002397.4):c.994T>C (p.S332P) - MEF2C_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1119T>C r.(?) p.(His373=) Unknown - likely benign g.88018724A>G g.88722907A>G MEF2C(NM_002397.4):c.1119T>C (p.H373=) - MEF2C_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(1421G>C) r.(?) *464Sext*? Unknown - pathogenic (dominant) g.(88018422C>G) - *464Sext*? - MEF2C_000037 Variant Error [ESYNTAX]: This genomic variant has an error (char 23: expected one of ')', '_', or a digit). Please fix this entry and then remove this message. PubMed: Carvill 2013 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 65-gene panel EE T18044 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected parents M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.*32del r.(?) p.(=) Unknown - likely benign g.88018401del g.88722584del MEF2C(NM_002397.4):c.*32delT - MEF2C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*105A>G r.(=) p.(=) Unknown - benign g.88018316T>C g.88722499T>C MEF2C(NM_002397.4):c.*105A>G - MEF2C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*115del r.(?) p.(=) Unknown - benign g.88018316del g.88722499del MEF2C(NM_002397.4):c.*115delA - MEF2C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend