All variants in the MEGF10 gene

Information The variants shown are described using the NM_032446.2 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. - c.-2798294_*18924275dup - - - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
?/. - c.116+3A>G r.spl? p.? - VUS g.126667119A>G - MEGF10(NM_001256545.1):c.116+3A>G (p.?) - MEGF10_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.116+10T>C r.(=) p.(=) - benign g.126667126T>C g.127331434T>C MEGF10(NM_001256545.2):c.116+10T>C, MEGF10(NM_032446.3):c.116+10T>C - MEGF10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.116+10T>C r.(=) p.(=) - benign g.126667126T>C - MEGF10(NM_001256545.2):c.116+10T>C, MEGF10(NM_032446.3):c.116+10T>C - MEGF10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.174G>A r.(?) p.(=) - benign g.126674869G>A - MEGF10(NM_001256545.2):c.174G>A (p.(Thr58=)) - MEGF10_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.188T>C r.(?) p.(Ile63Thr) - VUS g.126674883T>C - g.48361T>C - MEGF10_000025 - PubMed: Saat 2021 - - Germline - - - - - Ibrahim Sahin
+/. - c.211C>T r.(?) p.(Arg71Trp) - pathogenic g.126674906C>T g.127339214C>T - - MEGF10_000019 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387907074 Germline - 1/2795 individuals - - - Mohammed Faruq
+/. - c.241C>T r.(?) p.(Arg81Ter) - pathogenic (recessive) g.126676244C>T g.127340552C>T - - MEGF10_000007 - PubMed: Westra 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.259A>G r.(?) p.(Met87Val) - VUS g.126676262A>G g.127340570A>G MEGF10(NM_032446.2):c.259A>G (p.M87V) - MEGF10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.259A>G r.(?) p.(Met87Val) - VUS g.126676262A>G g.127340570A>G - - MEGF10_000002 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41298304 Germline - 2/2795 individuals - - - Mohammed Faruq
+/. - c.319+1G>A r.spl? p.? - pathogenic g.126676323G>A g.127340631G>A - - MEGF10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.512C>T r.(?) p.(Ala171Val) - VUS g.126732323C>T g.127396631C>T - - MEGF10_000020 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201824269 Germline - 1/2790 individuals - - - Mohammed Faruq
?/. - c.542G>A r.(?) p.(Arg181His) - VUS g.126732353G>A - MEGF10(NM_032446.3):c.542G>A (p.R181H) - MEGF10_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.775T>A r.(?) p.(Trp259Arg) - VUS g.126734483T>A - MEGF10(NM_001256545.1):c.775T>A (p.(Trp259Arg)) - MEGF10_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.821G>C r.(?) p.(Gly274Ala) - VUS g.126738278G>C - MEGF10(NM_001256545.1):c.821G>C (p.(Gly274Ala)) - MEGF10_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.982A>C r.(?) p.(Asn328His) - VUS g.126746145A>C - MEGF10(NM_001256545.2):c.982A>C (p.(Asn328His)) - MEGF10_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1114C>T r.(?) p.(Leu372=) - benign g.126746277C>T g.127410585C>T MEGF10(NM_032446.3):c.1114C>T (p.L372=) - MEGF10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1114C>T r.(?) p.(Leu372=) - benign g.126746277C>T g.127410585C>T MEGF10(NM_032446.3):c.1114C>T (p.L372=) - MEGF10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1166C>T r.(?) p.(Pro389Leu) - VUS g.126753365C>T - MEGF10(NM_001256545.2):c.1166C>T (p.(Pro389Leu)) - MEGF10_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1557delA r.(?) p.(Trp520fs) - likely pathogenic g.126755866del g.127420174del MEGF10 c.1557delA, (p.Trp520fs) - MEGF10_000028 homozygous PubMed: Alabdullatif 2017 - - Germline yes - - - - LOVD
+/. - c.1559G>A r.(?) p.(Trp520*) - pathogenic g.126755868G>A - MEGF10(NM_032446.3):c.1559G>A (p.W520*) - MEGF10_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1564G>A r.(?) p.(Gly522Arg) - likely benign g.126755873G>A g.127420181G>A MEGF10(NM_032446.2):c.1564G>A (p.G522R), MEGF10(NM_032446.3):c.1564G>A (p.G522R) - MEGF10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1564G>A r.(?) p.(Gly522Arg) - likely benign g.126755873G>A - MEGF10(NM_032446.2):c.1564G>A (p.G522R), MEGF10(NM_032446.3):c.1564G>A (p.G522R) - MEGF10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1602C>T r.(?) p.(Tyr534=) - likely benign g.126758373C>T - MEGF10(NM_032446.3):c.1602C>T (p.Y534=) - MEGF10_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1612T>C r.(?) p.(Cys538Arg) - VUS g.126758383T>C - MEGF10(NM_001256545.2):c.1612T>C (p.(Cys538Arg)) - MEGF10_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1684G>A r.(?) p.(Gly562Arg) - VUS g.126758455G>A - MEGF10(NM_001256545.2):c.1684G>A (p.(Gly562Arg)) - MEGF10_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1766del r.(?) p.(Asn589MetfsTer160) - VUS g.126769127del g.127433435del - - MEGF10_000010 no variant 2nd chromosome after targeted sequencing; no segregation analysis PubMed: Westra 2019 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.1783C>G r.(?) p.(Pro595Ala) - VUS g.126769144C>G g.127433452C>G MEGF10(NM_001256545.1):c.1783C>G (p.(Pro595Ala)) - MEGF10_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1841-20G>A r.(=) p.(=) - benign g.126770359G>A g.127434667G>A - - MEGF10_000021 141 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79904777 Germline - 141/2795 individuals - - - Mohammed Faruq
-/. - c.1841-20G>A r.(=) p.(=) - benign g.126770359G>A g.127434667G>A - - MEGF10_000021 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79904777 Germline - 4/2795 individuals - - - Mohammed Faruq
-?/. - c.1841-5T>C r.spl? p.? - likely benign g.126770374T>C - MEGF10(NM_001256545.2):c.1841-5T>C - MEGF10_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1914C>T r.(?) p.(=) - likely benign g.126770452C>T - MEGF10(NM_032446.3):c.1914C>T (p.C638=) - MEGF10_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2199C>T r.(?) p.(=) - benign g.126774225C>T - MEGF10(NM_001256545.2):c.2199C>T (p.(Cys733=)) - MEGF10_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2307del r.(?) p.(His769Glnfs*37) - VUS g.126776504del - MEGF10(NM_032446.2):c.2307delC (p.H769Qfs*37) - MEGF10_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.2330G>A r.(?) p.(Arg777His) - likely pathogenic g.126776527G>A g.127440835G>A - - MEGF10_000012 - PubMed: Saeed 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.2412_2415del r.(?) p.(Cys804Ter) - pathogenic (recessive) g.126778739_126778742del g.127443047_127443050del - - MEGF10_000011 - PubMed: Westra 2019 - - Germline - - - - - Johan den Dunnen
-?/. - c.2500A>T r.(?) p.(Ile834Phe) - likely benign g.126781157A>T - MEGF10(NM_032446.2):c.2500A>T (p.I834F) - MEGF10_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2711C>A r.(?) p.(Ala904Glu) - VUS g.126781368C>A g.127445676C>A MEGF10(NM_032446.2):c.2711C>A (p.A904E) - MEGF10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2729G>C r.(?) p.(Gly910Ala) - likely benign g.126783249G>C g.127447557G>C MEGF10(NM_001256545.1):c.2729G>C (p.(Gly910Ala)) - MEGF10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3026-8C>T r.(=) p.(=) - likely benign g.126791085C>T g.127455393C>T MEGF10(NM_001256545.1):c.3026-8C>T (p.(=)), MEGF10(NM_032446.2):c.3026-8C>T - MEGF10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3026-8C>T r.(=) p.(=) - likely benign g.126791085C>T - MEGF10(NM_001256545.1):c.3026-8C>T (p.(=)), MEGF10(NM_032446.2):c.3026-8C>T - MEGF10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3162G>A r.(?) p.(=) - benign g.126791229G>A - MEGF10(NM_001256545.2):c.3162G>A (p.(Pro1054=)) - MEGF10_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3189G>A r.(?) p.(=) - benign g.126791256G>A - MEGF10(NM_001256545.2):c.3189G>A (p.(Glu1063=)) - MEGF10_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3232+1G>A r.spl? p.? - VUS g.126791300G>A g.127455608G>A MEGF10(NM_001256545.1):c.3232+1G>A (p.?) - MEGF10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3387T>A r.(?) p.(Gly1129=) - benign g.126792974T>A g.127457282T>A MEGF10(NM_032446.3):c.3387T>A (p.G1129=) - MEGF10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.3387T>A r.(?) p.(Gly1129=) - benign g.126792974T>A g.127457282T>A MEGF10(NM_032446.3):c.3387T>A (p.G1129=) - MEGF10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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