Unique variants in the EFHC1 gene

Information The variants shown are described using the NM_018100.3 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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Effect     

Reported     

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     
?/. 1 2 cc.205_206insAACAGG r.(?) p.(Lys68_Ala69insGluGln) - VUS g.52288885_52288886insAACAGG g.52424087_52424088insAACAGG c.202_203insAGGAACCAGTC - EFHC1_000057 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.-124T>C r.(?) p.(=) - likely benign g.52285085T>C g.52420287T>C EFHC1(NM_018100.4):c.-124T>C - EFHC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 1i c.63+123G>C r.(?) p.(=) - benign g.52285394G>C g.52420596G>C - - EFHC1_000027 - PubMed: Raju 2017, Journal: Raju 2017 - rs12206743 Germline - 158/480 cases JME - - - Johan den Dunnen
-?/. 1 - c.64-159C>T r.(=) p.(=) - likely benign g.52288585C>T g.52423787C>T EFHC1(NM_018100.4):c.64-159C>T - EFHC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.64-54del r.(=) p.(=) - benign g.52288690del g.52423892del EFHC1(NM_018100.4):c.64-54delT - EFHC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.64-5T>C r.spl? p.? - likely benign g.52288739T>C - EFHC1(NM_018100.4):c.64-5T>C - EFHC1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.74T>C r.(?) p.(Phe25Ser) - VUS g.52288754T>C g.52423956T>C - - EFHC1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.97T>C r.(?) p.(Tyr33His) - likely benign g.52288777T>C g.52423979T>C EFHC1(NM_018100.4):c.97T>C (p.Y33H) - EFHC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.137G>A r.(?) p.(Gly46Glu) - VUS g.52288817G>A g.52424019G>A - - EFHC1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.229C>A r.(?) p.(Pro77Thr) - VUS g.52288909C>A g.52424111C>A - - EFHC1_000023 allele [229C>A;662G>A] classified as pathogenic (dominant, incomplete penetrance) PubMed: Suzuki 2004 - - Germline yes - - - - Johan den Dunnen
+/. 1 2 c.266A>G r.(?) p.(His89Arg) - pathogenic (dominant) g.52288946A>G g.52424148A>G His89Arg - EFHC1_000028 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - - - Sourav Nayak
-/. 1 - c.475C>G r.(?) p.(Arg159Gly) - benign g.52303291C>G g.52438493C>G EFHC1(NM_018100.4):c.475C>G (p.R159G) - EFHC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 3 c.475C>T r.(?) p.(Arg159Trp) - benign g.52303291C>T g.52438493C>T - - EFHC1_000029 - PubMed: Raju 2017, Journal: Raju 2017 - rs3804506 Germline - 70/480 cases JME - - - Johan den Dunnen
+/-?, -/. 3 3 c.545G>A r.(?) p.(Arg182His) - benign, pathogenic (!) g.52303361G>A g.52438563G>A EFHC1(NM_018100.4):c.545G>A (p.R182H) - EFHC1_000009 re-classified based on ExAC data, pathogenic (dominant) with incomplete pentrance, 1 more item PubMed: Raju 2017, Journal: Raju 2017, PubMed: Suzuki 2004 - rs3804505 CLASSIFICATION record, Germline yes 75/480 cases JME - - - Johan den Dunnen, VKGL-NL_Utrecht
-/. 1 3 c.573-54G>T r.(?) p.(=) - benign g.52303335G>T - - - EFHC1_000030 1 more item PubMed: Raju 2017, Journal: Raju 2017 - rs539295 Germline - 9/480 cases JME - - - Johan den Dunnen
-/. 1 3i c.573+10A>G r.(?) p.(=) - benign g.52303399A>G g.52438601A>G - - EFHC1_000031 - PubMed: Raju 2017, Journal: Raju 2017 - rs9349626 Germline - 199/480 cases JME - - - Johan den Dunnen
-/. 1 - c.574-205G>A r.(=) p.(=) - benign g.52317281G>A g.52452483G>A EFHC1(NM_018100.4):c.574-205G>A - EFHC1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.628G>A r.(?) p.(Asp210Asn) - pathogenic (!) g.52317540G>A g.52452742G>A - - EFHC1_000025 pathogenic (dominant) with incomplete pentrance PubMed: Suzuki 2004 - - Germline yes - - - - Johan den Dunnen
-/. 1 4 c.661C>T r.(?) p.(Arg221Cys) - benign g.52317573C>T g.52452775C>T - - EFHC1_000032 - PubMed: Raju 2017, Journal: Raju 2017 - rs139197513 Germline - 4/480 cases JME - - - Johan den Dunnen
?/. 2 - c.662G>A r.(?) p.(Arg221His) - VUS g.52317574G>A g.52452776G>A - - EFHC1_000024 allele [229C>A;662G>A] classified as pathogenic (dominant, incomplete penetrance) PubMed: Suzuki 2004 - - Germline yes - - - - Johan den Dunnen
+/., -/., -?/. 9 4 c.685T>C r.(?) p.(Phe229Leu) - benign, likely benign, pathogenic (!), pathogenic (dominant) g.52317597T>C g.52452799T>C EFHC1(NM_018100.4):c.685T>C (p.F229L), Phe229Leu - EFHC1_000010 pathogenic (dominant) with incomplete pentrance, VKGL data sharing initiative Nederland PubMed: Raju 2017, Journal: Raju 2017, PubMed: Suzuki 2004 - rs137852776 CLASSIFICATION record, Germline yes 1/480 cases JME, 5/480 cases JME - - - Johan den Dunnen, Sourav Nayak, VKGL-NL_Utrecht
-?/. 1 - c.685T>C^687T>R r.(?) p.(Phe229Leu) - likely benign g.52317597T>C^52317599T>R - Phe229Leu - EFHC1_000022 - PubMed: Abela 2016 - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.723+106C>T r.(=) p.(=) - likely benign g.52317741C>T g.52452943C>T EFHC1(NM_018100.4):c.723+106C>T - EFHC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.724-135del r.(=) p.(=) - likely benign g.52318758del g.52453960del EFHC1(NM_018100.4):c.724-135delT - EFHC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.724-81G>A r.(=) p.(=) - likely benign g.52318812G>A g.52454014G>A EFHC1(NM_018100.4):c.724-81G>A - EFHC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.757G>T r.(?) p.(Asp253Tyr) - pathogenic (dominant) g.52318926G>T g.52454128G>T - - EFHC1_000026 - PubMed: Suzuki 2004 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 5 c.800A>G r.(?) p.(Tyr267Cys) - VUS g.52318969A>G g.52454171A>G - - EFHC1_000058 - PubMed: Ganapathy 2019 ClinVar-RCV000260926 rs886061629 Germline - - - - - Johan den Dunnen
-/., -?/. 3 5 c.881G>A r.(?) p.(Arg294His) - benign, likely benign g.52319050G>A g.52454252G>A EFHC1(NM_018100.4):c.881G>A (p.R294H) - EFHC1_000014 VKGL data sharing initiative Nederland PubMed: Raju 2017, Journal: Raju 2017 - rs1570624 CLASSIFICATION record, Germline - 1/480 cases JME - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.887G>A r.(?) p.(Arg296His) - likely benign g.52319056G>A g.52454258G>A EFHC1(NM_018100.4):c.887G>A (p.R296H) - EFHC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 6 c.964G>A r.(?) p.(Glu322Lys) - likely pathogenic g.52329740G>A g.52464942G>A 965G>A - EFHC1_000001 - - - - Germline - - - - - Anuranjan Anand
+/. 1 6 c.965G>A r.(?) p.(Glu322Lys) - pathogenic (dominant) g.52329741G>A - Glu322Lys - EFHC1_000033 1 more item PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - - - Sourav Nayak
+/. 4 6 c.1056C>T r.(?) p.(Arg353Trp) - pathogenic (dominant) g.52329832C>T - Arg353Trp - EFHC1_000034 1 more item PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - - - Sourav Nayak
?/. 1 - c.1058G>A r.(?) p.(Arg353Gln) ACMG VUS g.52329834G>A - - - EFHC1_000059 ACMG: PM2_SUP, BP4 PMID: 26423924 RCV001086524 - Germline ? - - - - Andreas Laner
+/. 1 6 c.1064A>G r.(?) p.(Tyr355Cys) - pathogenic (dominant) g.52329840A>G g.52465042A>G Tyr355Cys - EFHC1_000035 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - - - Sourav Nayak
-/. 1 - c.1069G>A r.(?) p.(Glu357Lys) - benign g.52329845G>A g.52465047G>A EFHC1(NM_018100.4):c.1069G>A (p.E357K) - EFHC1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 8 6 c.1114C>T r.(?) p.(Arg372Trp) - pathogenic (dominant) g.52329890C>T g.52465092C>T Arg372Trp - EFHC1_000036 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - - - Sourav Nayak
+/., +?/. 2 6 c.1132A>G r.(?) p.(Lys378Glu) - likely pathogenic, pathogenic (dominant) g.52329908A>G g.52465110A>G Lys378Glu - EFHC1_000002 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - - - Sourav Nayak, Anuranjan Anand
-?/. 1 - c.1138-157A>T r.(=) p.(=) - likely benign g.52333974A>T g.52469176A>T EFHC1(NM_018100.4):c.1138-157A>T - EFHC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1278+66dup r.(=) p.(=) - benign g.52334337dup g.52469539dup EFHC1(NM_018100.4):c.1278+66dupT - EFHC1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 7i c.1278+100T>C r.(?) p.(=) - benign g.52334371T>C g.52469573T>C - - EFHC1_000037 - PubMed: Raju 2017, Journal: Raju 2017 - rs62407897 Germline - 193/480 cases JME - - - Johan den Dunnen
-?/. 1 - c.1279-85A>C r.(=) p.(=) - likely benign g.52343750A>C g.52478952A>C EFHC1(NM_018100.4):c.1279-85A>C - EFHC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 8 c.1306C>T r.(?) p.(Arg436Cys) - pathogenic (dominant) g.52343862C>T g.52479064C>T Arg436Cys - EFHC1_000038 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - - - Sourav Nayak
-/., -?/. 2 8 c.1343T>C r.(?) p.(Met448Thr) - benign, likely benign g.52343899T>C g.52479101T>C - - EFHC1_000039 52 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020, PubMed: Raju 2017, Journal: Raju 2017 - rs1266787 Germline - 52/2794 individuals, 9/480 cases JME - - - Johan den Dunnen, Mohammed Faruq
-?/. 1 - c.1385T>C r.(?) p.(Ile462Thr) - likely benign g.52343941T>C g.52479143T>C EFHC1(NM_018100.4):c.1385T>C (p.I462T) - EFHC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 8 c.1453T>C r.(?) p.(Tyr485His) - pathogenic (dominant) g.52344009T>C g.52479211T>C Tyr485His - EFHC1_000040 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - - - Sourav Nayak
?/. 1 - c.1492+1G>A r.spl? p.? - VUS g.52344049G>A g.52479251G>A - - EFHC1_000055 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs191404037 Germline - 1/2795 individuals - - - Mohammed Faruq
+/. 1 9 c.1556A>G r.(?) p.(Asn519Ser) - pathogenic (dominant) g.52344501A>G g.52479703A>G Asn519Ser - EFHC1_000041 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - - - Sourav Nayak
-/. 1 9i c.1640+77A>C r.(?) p.(=) - benign g.52344662A>C g.52479864A>C - - EFHC1_000042 - PubMed: Raju 2017, Journal: Raju 2017 - rs515432 Germline - 11/480 cases JME - - - Johan den Dunnen
+/. 1 10 c.1666G>T r.(?) p.(Val556Leu) - pathogenic (dominant) g.52354963G>T g.52490165G>T Val556Leu - EFHC1_000043 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - - - Sourav Nayak
-/. 1 10 c.1675T>C r.(?) p.(=) - benign g.52354972T>C g.52490174T>C - - EFHC1_000044 - PubMed: Raju 2017, Journal: Raju 2017 - rs145194882 Germline - 1/480 cases JME - - - Johan den Dunnen
-/. 1 10i c.1851+58T>C r.(?) p.(=) - benign g.52355206T>C g.52490408T>C - - EFHC1_000045 - PubMed: Raju 2017, Journal: Raju 2017 - rs2273120 Germline - 434/480 cases JME - - - Johan den Dunnen
-?/. 1 - c.1852-201del r.(=) p.(=) - likely benign g.52356867del g.52492069del EFHC1(NM_018100.4):c.1852-201delT - EFHC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1852-58T>C r.(=) p.(=) - likely benign g.52357010T>C g.52492212T>C EFHC1(NM_018100.4):c.1852-58T>C - EFHC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 11 c.1855A>C r.(?) p.(Ile619Leu) - benign g.52357071A>C g.52492273A>C - - EFHC1_000046 - PubMed: Raju 2017, Journal: Raju 2017 - rs17851770 Germline - 4/480 cases JME - - - Johan den Dunnen
+/. 1 11 c.1856T>G r.(?) p.(Ile619Ser) - pathogenic (dominant) g.52357072T>G g.52492274T>G Ile619Ser - EFHC1_000047 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - - - Sourav Nayak
+/. 2 11 c.1892A>G r.(?) p.(Tyr631Cys) - pathogenic (dominant) g.52357108A>G g.52492310A>G Tyr631Cys - EFHC1_000048 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - - - Sourav Nayak
-/. 1 11 c.1923+121C>A r.(?) p.(=) - benign g.52357260C>A - - - EFHC1_000049 1 more item PubMed: Raju 2017, Journal: Raju 2017 - rs7757370 Germline - 94/480 cases JME - - - Johan den Dunnen
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