All transcript variants in gene MEF2C

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

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
+/. _1_1i c.(-420000_-403871)_(-143+9022_-142-1)del likely pathogenic (dominant) r.0? p.0? 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 - Johan den Dunnen
+?/. - c.2T>A likely pathogenic r.(?) p.? g.88119604A>T - MEF2C(NM_002397.4):c.2T>A (p.M1?) - MEF2C_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.2T>C pathogenic r.(?) p.? g.88119604A>G - MEF2C(NM_002397.4):c.2T>C (p.M1?) - MEF2C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.40G>A VUS r.(?) p.(Glu14Lys) g.88119566C>T - - - MEF2C_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.53A>G VUS r.(?) p.(Gln18Arg) g.88119553T>C - - - MEF2C_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.54+13A>T likely benign r.(=) p.(=) g.88119539T>A - MEF2C(NM_002397.4):c.54+13A>T - MEF2C_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.80G>C pathogenic r.(?) p.(Gly27Ala) g.88100593C>G - MEF2C(NM_002397.4):c.80G>C (p.G27A) - MEF2C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.104T>C Likely pathogenic r.(?) p.(Leu35Pro) g.88100569A>G g.88804752A>G - - MEF2C_000002 - - - - De novo yes - - 0 - Wenjuan Qiu
+/. - c.113T>A pathogenic r.(?) p.(Leu38Gln) g.88100560A>T - MEF2C(NM_002397.4):c.113T>A (p.L38Q) - MEF2C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.258G>A likely pathogenic r.(?) p.(=) g.88100415C>T - - - MEF2C_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.309G>A likely benign r.(?) p.(=) g.88057095C>T - MEF2C(NM_002397.4):c.309G>A (p.A103=) - MEF2C_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.363C>T likely benign r.(?) p.(=) g.88057041G>A - MEF2C(NM_002397.4):c.363C>T (p.N121=) - MEF2C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.401_402+2del likely pathogenic r.(?) p.(Cys134Leufs*52) g.88057003_88057006del - MEF2C(NM_002397.5):c.401_402+2delGTGT - MEF2C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.471C>G pathogenic r.(?) p.(Tyr157*) g.88047792G>C - - - MEF2C_000023 - PubMed: Yuan 2017 - - Germline yes - - 0 - Jilani Jawaid
./. - c.498_502delinsA - r.(?) p.(Asn166Lysfs*20) g.88047761_88047765delTGinsT g.88751944_88751948delinsT - - MEF2C_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.508T>C likely benign r.(?) p.(=) g.88047755A>G - MEF2C(NM_002397.4):c.508T>C (p.L170=) - MEF2C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.658C>T pathogenic r.(?) p.(Arg220*) g.88027698G>A - - - MEF2C_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.683C>G pathogenic r.(?) p.(Ser228*) g.88027673G>C - MEF2C(NM_002397.4):c.683C>G (p.S228*) - MEF2C_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.798G>A likely benign r.(?) p.(=) g.88027558C>T - MEF2C(NM_002397.4):c.798G>A (p.T266=) - MEF2C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.811-12G>A likely benign r.(=) p.(=) g.88026063C>T - MEF2C(NM_002397.4):c.811-12G>A - MEF2C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.834+181_834+182del benign r.(=) p.(=) g.88025855_88025856del - MEF2C(NM_002397.4):c.834+181_834+182delTT - MEF2C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.834+182del benign r.(=) p.(=) g.88025856del - MEF2C(NM_002397.4):c.834+182delT - MEF2C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.835-128A>G benign r.(=) p.(=) g.88025292T>C - MEF2C(NM_002397.4):c.835-128A>G - MEF2C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.835-10_835-7del likely benign r.(=) p.(=) g.88025178_88025181del - MEF2C(NM_001131005.2):c.805-10_805-7del (p.(=)) - MEF2C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.835-2A>G pathogenic r.spl? p.? g.88025166T>C - MEF2C(NM_002397.4):c.835-2A>G - MEF2C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.965-2A>G pathogenic r.spl? p.? g.88024447T>C - MEF2C(NM_002397.5):c.965-2A>G - MEF2C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.994T>C VUS r.(?) p.(Ser332Pro) g.88024416A>G - MEF2C(NM_002397.4):c.994T>C (p.S332P) - MEF2C_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1119T>C likely benign r.(?) p.(=) g.88018724A>G - MEF2C(NM_002397.4):c.1119T>C (p.H373=) - MEF2C_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*32del likely benign r.(?) p.(=) g.88018401del - MEF2C(NM_002397.4):c.*32delT - MEF2C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*105A>G benign r.(=) p.(=) g.88018316T>C - MEF2C(NM_002397.4):c.*105A>G - MEF2C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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