Full data view for gene EFHC1

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

79 entries on 1 page. Showing entries 1 - 79.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-124T>C likely benign r.(?) p.(=) Unknown g.52285085T>C - EFHC1(NM_018100.3):c.-124T>C - EFHC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1i c.63+123G>C benign r.(?) p.(=) Unknown g.52285394G>C - - - EFHC1_000027 - PubMed: Raju 2017, Journal: Raju 2017 - rs12206743 Germline - 158/480 cases JME - 0 - DNA SEQ - - - 28370826-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 158 Johan den Dunnen
-?/. - c.64-159C>T likely benign r.(=) p.(=) Unknown g.52288585C>T - EFHC1(NM_018100.3):c.64-159C>T - EFHC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.64-54del benign r.(=) p.(=) Unknown g.52288690del - EFHC1(NM_018100.3):c.64-54delT - EFHC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.74T>C VUS r.(?) p.(Phe25Ser) Unknown g.52288754T>C - - - EFHC1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.97T>C likely benign r.(?) p.(Tyr33His) Unknown g.52288777T>C - EFHC1(NM_018100.3):c.97T>C (p.Y33H) - EFHC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.137G>A VUS r.(?) p.(Gly46Glu) Unknown g.52288817G>A - - - EFHC1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229C>A pathogenic (dominant, incomplete penetrance) r.(?) p.(Pro77Thr) Parent #1 g.52288909C>A - - - EFHC1_000023 allele [229C>A;662G>A] classified as pathogenic (dominant, incomplete penetrance) PubMed: Suzuki 2004 - - Germline yes - - 0 - DNA SEQ - - EJM 15258581-Fam1 PubMed: Suzuki 2004 3-generation family, 3 affected (F, 2M), 4 asymtomatic heterozygous carriers (F, 4M) F;M - Mexico - - 0 - - 7 Johan den Dunnen
?/. - c.229C>A pathogenic (dominant, incomplete penetrance) r.(?) p.(Pro77Thr) Parent #1 g.52288909C>A - - - EFHC1_000023 allele [229C>A;662G>A] classified as pathogenic (dominant, incomplete penetrance) PubMed: Suzuki 2004 - - Germline yes - - 0 - DNA SEQ - - EJM 15258581-Fam2 PubMed: Suzuki 2004 3-generation family, 2 affected (2F), 2 asymtomatic heterozygous carriers (F, M) F;M - Mexico - - 0 - - 4 Johan den Dunnen
+/. 2 c.266A>G pathogenic (dominant) r.(?) p.(His89Arg) Unknown g.52288946A>G - His89Arg - EFHC1_000028 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370826-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
-/. - c.475C>G benign r.(?) p.(Arg159Gly) Unknown g.52303291C>G - EFHC1(NM_018100.3):c.475C>G (p.R159G) - EFHC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.475C>T benign r.(?) p.(Arg159Trp) Unknown g.52303291C>T - - - EFHC1_000029 - PubMed: Raju 2017, Journal: Raju 2017 - rs3804506 Germline - 70/480 cases JME - 0 - DNA SEQ - - - 28370827-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 70 Johan den Dunnen
-/. - c.545G>A benign r.(?) p.(Arg182His) Unknown g.52303361G>A - EFHC1(NM_018100.3):c.545G>A (p.R182H) - EFHC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/-? - c.545G>A pathogenic, dominant, incomplete penetrance r.(?) p.(Arg182His) Parent #1 g.52303361G>A - - - EFHC1_000009 re-classified based on ExAC data PubMed: Suzuki 2004 - - Germline yes - - 0 - DNA SEQ - - EJM 15258581-Fam7 PubMed: Suzuki 2004 4-generation family, 8 affected (4F, 4M), 11 asymtomatic heterozygous carriers F;M - Belize - - 0 - - 19 Johan den Dunnen
-/. 3 c.545G>A benign r.(?) p.(Arg182His) Unknown g.52303361G>A - - - EFHC1_000009 - PubMed: Raju 2017, Journal: Raju 2017 - rs3804505 Germline - 75/480 cases JME - 0 - DNA SEQ - - - 28370828-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 75 Johan den Dunnen
-/. 3 c.573-54G>T benign r.(?) p.(=) Unknown g.52303335G>T - - - EFHC1_000030 - PubMed: Raju 2017, Journal: Raju 2017 - rs539295 Germline - 9/480 cases JME - 0 - DNA SEQ - - - 28370829-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 9 Johan den Dunnen
-/. 3i c.573+10A>G benign r.(?) p.(=) Unknown g.52303399A>G - - - EFHC1_000031 - PubMed: Raju 2017, Journal: Raju 2017 - rs9349626 Germline - 199/480 cases JME - 0 - DNA SEQ - - - 28370830-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 199 Johan den Dunnen
-/. - c.574-205G>A benign r.(=) p.(=) Unknown g.52317281G>A - EFHC1(NM_018100.3):c.574-205G>A - EFHC1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.628G>A pathogenic, dominant, incomplete penetrance r.(?) p.(Asp210Asn) Parent #1 g.52317540G>A - - - EFHC1_000025 - PubMed: Suzuki 2004 - - Germline yes - - 0 - DNA SEQ - - EJM 15258581-Fam5 PubMed: Suzuki 2004 2-generation family, 2 affected (2M), 2 asymtomatic heterozygous carriers (F, M) F;M - Mexico - - 0 - - 4 Johan den Dunnen
-/. 4 c.661C>T benign r.(?) p.(Arg221Cys) Unknown g.52317573C>T - - - EFHC1_000032 - PubMed: Raju 2017, Journal: Raju 2017 - rs139197513 Germline - 4/480 cases JME - 0 - DNA SEQ - - - 28370831-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 4 Johan den Dunnen
?/. - c.662G>A pathogenic (dominant, incomplete penetrance) r.(?) p.(Arg221His) Parent #1 g.52317574G>A - - - EFHC1_000024 allele [229C>A;662G>A] classified as pathogenic (dominant, incomplete penetrance) PubMed: Suzuki 2004 - - Germline yes - - 0 - DNA SEQ - - EJM 15258581-Fam1 PubMed: Suzuki 2004 3-generation family, 3 affected (F, 2M), 4 asymtomatic heterozygous carriers (F, 4M) F;M - Mexico - - 0 - - 7 Johan den Dunnen
?/. - c.662G>A pathogenic (dominant, incomplete penetrance) r.(?) p.(Arg221His) Parent #1 g.52317574G>A - - - EFHC1_000024 allele [229C>A;662G>A] classified as pathogenic (dominant, incomplete penetrance) PubMed: Suzuki 2004 - - Germline yes - - 0 - DNA SEQ - - EJM 15258581-Fam2 PubMed: Suzuki 2004 3-generation family, 2 affected (2F), 2 asymtomatic heterozygous carriers (F, M) F;M - Mexico - - 0 - - 4 Johan den Dunnen
-?/. - c.685T>C likely benign r.(?) p.(Phe229Leu) Unknown g.52317597T>C - EFHC1(NM_018100.3):c.685T>C (p.F229L) - EFHC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.685T>C pathogenic, dominant, incomplete penetrance r.(?) p.(Phe229Leu) Parent #1 g.52317597T>C - - - EFHC1_000010 - PubMed: Suzuki 2004 - - Germline yes - - 0 - DNA SEQ - - EJM 15258581-Fam3 PubMed: Suzuki 2004 2-generation family, 3 affected (2F, M), 1 asymtomatic heterozygous carriers (M) F;M - Mexico - - 0 - - 4 Johan den Dunnen
+/. - c.685T>C pathogenic, dominant, incomplete penetrance r.(?) p.(Phe229Leu) Parent #1 g.52317597T>C - - - EFHC1_000010 - PubMed: Suzuki 2004 - - Germline yes - - 0 - DNA SEQ - - EJM 15258581-Fam4 PubMed: Suzuki 2004 3-generation family, 4 affected (3F, M), 5 asymtomatic heterozygous carriers (F, 4M) F;M - Mexico - - 0 - - 9 Johan den Dunnen
+/. 4 c.685T>C pathogenic (dominant) r.(?) p.(Phe229Leu) Unknown g.52317597T>C - Phe229Leu - EFHC1_000010 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370827-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - 1 Sourav Nayak
+/. 4 c.685T>C pathogenic (dominant) r.(?) p.(Phe229Leu) Unknown g.52317597T>C - Phe229Leu - EFHC1_000010 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370828-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 4 c.685T>C pathogenic (dominant) r.(?) p.(Phe229Leu) Unknown g.52317597T>C - Phe229Leu - EFHC1_000010 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370829-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 4 c.685T>C pathogenic (dominant) r.(?) p.(Phe229Leu) Unknown g.52317597T>C - Phe229Leu - EFHC1_000010 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370830-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - 1 Sourav Nayak
+/. 4 c.685T>C pathogenic (dominant) r.(?) p.(Phe229Leu) Unknown g.52317597T>C - Phe229Leu - EFHC1_000010 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370831-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
-/. 4 c.685T>C benign r.(?) p.(Phe229Leu) Unknown g.52317597T>C - - - EFHC1_000010 - PubMed: Raju 2017, Journal: Raju 2017 - rs137852776 Germline - 5/480 cases JME - 0 - DNA SEQ - - - 28370832-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 5 Johan den Dunnen
-?/. - c.685T>C^687T>R likely benign r.(?) p.(Phe229Leu) Paternal (confirmed) g.52317597T>C^52317599T>R - Phe229Leu - EFHC1_000022 - PubMed: Abela 2016 - - Germline - - - 0 - DNA SEQ-NG-I blood WES EE 72555 PubMed: Abela 2016 3-generation family, affected twin brothers, unaffected heterozygous carrier mother M no Italy - - 0 - - 2 Anaïs Begemann
-?/. - c.723+106C>T likely benign r.(=) p.(=) Unknown g.52317741C>T - EFHC1(NM_018100.3):c.723+106C>T - EFHC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.723+106C>T likely benign r.(=) p.(=) Unknown g.52317741C>T - EFHC1(NM_018100.3):c.723+106C>T - EFHC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.724-135del likely benign r.(=) p.(=) Unknown g.52318758del - EFHC1(NM_018100.3):c.724-135delT - EFHC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.724-81G>A likely benign r.(=) p.(=) Unknown g.52318812G>A - EFHC1(NM_018100.3):c.724-81G>A - EFHC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.757G>T pathogenic (dominant) r.(?) p.(Asp253Tyr) Unknown g.52318926G>T - - - EFHC1_000026 - PubMed: Suzuki 2004 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - EJM 15258581-Fam6 PubMed: Suzuki 2004 2-generation family, 2 affected (F, M) F;M - Mexico - - 0 - - 2 Johan den Dunnen
-?/. - c.881G>A likely benign r.(?) p.(Arg294His) Unknown g.52319050G>A - EFHC1(NM_018100.3):c.881G>A (p.R294H) - EFHC1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.881G>A likely benign r.(?) p.(Arg294His) Unknown g.52319050G>A - EFHC1(NM_018100.3):c.881G>A (p.R294H) - EFHC1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 5 c.881G>A benign r.(?) p.(Arg294His) Unknown g.52319050G>A - - - EFHC1_000014 - PubMed: Raju 2017, Journal: Raju 2017 - rs1570624 Germline - 1/480 cases JME - 0 - DNA SEQ - - - 28370833-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 1 Johan den Dunnen
-?/. - c.887G>A likely benign r.(?) p.(Arg296His) Unknown g.52319056G>A - EFHC1(NM_018100.3):c.887G>A (p.R296H) - EFHC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.964G>A - r.(?) p.(Glu322Lys) Unknown g.52329740G>A g.52464942G>A 965G>A - EFHC1_000001 - - - - Germline - - - 0 - DNA SEQ Blood - EJM - - - F no India South Indian - 0 - - 1 Anuranjan Anand
+/. 6 c.965G>A pathogenic (dominant) r.(?) p.(Glu322Lys) Unknown g.52329741G>A - Glu322Lys - EFHC1_000033 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370832-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1056C>T pathogenic (dominant) r.(?) p.(Arg353Trp) Unknown g.52329832C>T - Arg353Trp - EFHC1_000034 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370833-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1056C>T pathogenic (dominant) r.(?) p.(Arg353Trp) Unknown g.52329832C>T - Arg353Trp - EFHC1_000034 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370834-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1056C>T pathogenic (dominant) r.(?) p.(Arg353Trp) Unknown g.52329832C>T - Arg353Trp - EFHC1_000034 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370835-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1056C>T pathogenic (dominant) r.(?) p.(Arg353Trp) Unknown g.52329832C>T - Arg353Trp - EFHC1_000034 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370836-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1064A>G pathogenic (dominant) r.(?) p.(Tyr355Cys) Unknown g.52329840A>G - Tyr355Cys - EFHC1_000035 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370837-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - 1 Sourav Nayak
-/. - c.1069G>A benign r.(?) p.(Glu357Lys) Unknown g.52329845G>A - EFHC1(NM_018100.3):c.1069G>A (p.E357K) - EFHC1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp) Unknown g.52329890C>T - Arg372Trp - EFHC1_000036 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370838-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp) Unknown g.52329890C>T - Arg372Trp - EFHC1_000036 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370839-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp) Unknown g.52329890C>T - Arg372Trp - EFHC1_000036 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370840-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp) Unknown g.52329890C>T - Arg372Trp - EFHC1_000036 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370841-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp) Unknown g.52329890C>T - Arg372Trp - EFHC1_000036 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370842-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp) Unknown g.52329890C>T - Arg372Trp - EFHC1_000036 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370843-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp) Unknown g.52329890C>T - Arg372Trp - EFHC1_000036 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370844-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp) Unknown g.52329890C>T - Arg372Trp - EFHC1_000036 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370845-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - 1 Sourav Nayak
+?/. 6 c.1132A>G - r.(?) p.(Lys378Glu) Unknown g.52329908A>G g.52465110A>G - - EFHC1_000002 - - - - Germline - - - 0 - DNA SEQ Blood - EJM - - - M no India South Indian - 0 - - 1 Anuranjan Anand
+/. 6 c.1132A>G pathogenic (dominant) r.(?) p.(Lys378Glu) Unknown g.52329908A>G - Lys378Glu - EFHC1_000002 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370846-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - 1 Sourav Nayak
-?/. - c.1138-157A>T likely benign r.(=) p.(=) Unknown g.52333974A>T - EFHC1(NM_018100.3):c.1138-157A>T - EFHC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1278+66dup benign r.(=) p.(=) Unknown g.52334337dup - EFHC1(NM_018100.3):c.1278+66dupT - EFHC1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 7i c.1278+100T>C benign r.(?) p.(=) Unknown g.52334371T>C - - - EFHC1_000037 - PubMed: Raju 2017, Journal: Raju 2017 - rs62407897 Germline - 193/480 cases JME - 0 - DNA SEQ - - - 28370834-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 193 Johan den Dunnen
-?/. - c.1279-85A>C likely benign r.(=) p.(=) Unknown g.52343750A>C - EFHC1(NM_018100.3):c.1279-85A>C - EFHC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8 c.1306C>T pathogenic (dominant) r.(?) p.(Arg436Cys) Unknown g.52343862C>T - Arg436Cys - EFHC1_000038 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370847-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
-/. 8 c.1343T>C benign r.(?) p.(Met448Thr) Unknown g.52343899T>C - - - EFHC1_000039 - PubMed: Raju 2017, Journal: Raju 2017 - rs1266787 Germline - 9/480 cases JME - 0 - DNA SEQ - - - 28370835-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 9 Johan den Dunnen
-?/. - c.1385T>C likely benign r.(?) p.(Ile462Thr) Unknown g.52343941T>C - EFHC1(NM_018100.3):c.1385T>C (p.I462T) - EFHC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8 c.1453T>C pathogenic (dominant) r.(?) p.(Tyr485His) Unknown g.52344009T>C - Tyr485His - EFHC1_000040 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370848-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - 1 Sourav Nayak
+/. 9 c.1556A>G pathogenic (dominant) r.(?) p.(Asn519Ser) Unknown g.52344501A>G - Asn519Ser - EFHC1_000041 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370849-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
-/. 9i c.1640+77A>C benign r.(?) p.(=) Unknown g.52344662A>C - - - EFHC1_000042 - PubMed: Raju 2017, Journal: Raju 2017 - rs515432 Germline - 11/480 cases JME - 0 - DNA SEQ - - - 28370836-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 11 Johan den Dunnen
+/. 10 c.1666G>T pathogenic (dominant) r.(?) p.(Val556Leu) Unknown g.52354963G>T - Val556Leu - EFHC1_000043 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370850-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
-/. 10 c.1675T>C benign r.(?) p.(=) Unknown g.52354972T>C - - - EFHC1_000044 - PubMed: Raju 2017, Journal: Raju 2017 - rs145194882 Germline - 1/480 cases JME - 0 - DNA SEQ - - - 28370837-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 1 Johan den Dunnen
-/. 10i c.1851+58T>C benign r.(?) p.(=) Unknown g.52355206T>C - - - EFHC1_000045 - PubMed: Raju 2017, Journal: Raju 2017 - rs2273120 Germline - 434/480 cases JME - 0 - DNA SEQ - - - 28370838-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 434 Johan den Dunnen
-?/. - c.1852-201del likely benign r.(=) p.(=) Unknown g.52356867del - EFHC1(NM_018100.3):c.1852-201delT - EFHC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1852-58T>C likely benign r.(=) p.(=) Unknown g.52357010T>C - EFHC1(NM_018100.3):c.1852-58T>C - EFHC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 11 c.1855A>C benign r.(?) p.(Ile619Leu) Unknown g.52357071A>C - - - EFHC1_000046 - PubMed: Raju 2017, Journal: Raju 2017 - rs17851770 Germline - 4/480 cases JME - 0 - DNA SEQ - - - 28370839-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 4 Johan den Dunnen
+/. 11 c.1856T>G pathogenic (dominant) r.(?) p.(Ile619Ser) Unknown g.52357072T>G - Ile619Ser - EFHC1_000047 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370851-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - 1 Sourav Nayak
+/. 11 c.1892A>G pathogenic (dominant) r.(?) p.(Tyr631Cys) Unknown g.52357108A>G - Tyr631Cys - EFHC1_000048 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370852-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 11 c.1892A>G pathogenic (dominant) r.(?) p.(Tyr631Cys) Unknown g.52357108A>G - Tyr631Cys - EFHC1_000048 - PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370853-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
-/. 11 c.1923+121C>A benign r.(?) p.(=) Unknown g.52357260C>A - - - EFHC1_000049 - PubMed: Raju 2017, Journal: Raju 2017 - rs7757370 Germline - 94/480 cases JME - 0 - DNA SEQ - - - 28370840-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - 94 Johan den Dunnen
Legend