Full data view for gene ELAC2

Information The variants shown are described using the NM_018127.6 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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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     
?/. - c.2T>C r.(?) p.? Unknown - VUS g.12921263A>G - ELAC2(NM_018127.6):c.2T>C (p.(Met1?)) - ARHGAP44_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9G>C r.(?) p.(Ala3=) Unknown - likely benign g.12921256C>G g.13017939C>G ELAC2(NM_018127.6):c.9G>C (p.A3=) - ELAC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.35C>T r.(?) p.(Ala12Val) Unknown - likely benign g.12921230G>A g.13017913G>A ELAC2(NM_018127.6):c.35C>T (p.A12V) - ELAC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.82C>T r.(?) p.(Arg28Cys) Both (homozygous) - VUS g.12921183G>A g.13017866G>A - - ELAC2_000022 - PubMed: Ganapathy 2019 ClinVar-RCV000530273.1 rs763864314 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5748 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.183G>C r.(?) p.(Gln61His) Unknown - VUS g.12921082C>G - ELAC2(NM_018127.6):c.183G>C (p.(Gln61His)) - ARHGAP44_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.195G>A r.(?) p.(=) Unknown - VUS g.12921070C>T - ELAC2(NM_018127.7):c.195G>A (p.(Ala65=)) - ARHGAP44_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245+5_245+8del r.spl? p.? Unknown - VUS g.12921016_12921019del - ELAC2(NM_018127.7):c.245+5_245+8del - ARHGAP44_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246-7C>T r.(=) p.(=) Unknown - likely benign g.12920445G>A - ELAC2(NM_018127.7):c.246-7C>T - ARHGAP44_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.248A>G r.(?) p.(Tyr83Cys) Maternal (confirmed) ACMG VUS g.12920436T>C - A248G - ELAC2_000023 - PubMed: Yang 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - cancer gene panel cancer FamPatII2 PubMed: Yang 2015 3-generation family, 3 affected (3F) F - China - - - - - 3 Johan den Dunnen
-/. - c.297-11T>C r.(=) p.(=) Unknown - benign g.12920260A>G - ELAC2(NM_018127.7):c.297-11T>C - ARHGAP44_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.319A>G r.(?) p.(Asn107Asp) Unknown - VUS g.12920227T>C g.13016910T>C ELAC2(NM_018127.6):c.319A>G (p.N107D) - ELAC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.491-14T>C r.(=) p.(=) Unknown - benign g.12916606A>G - ELAC2(NM_018127.7):c.491-14T>C - ARHGAP44_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496C>G r.(?) p.(Arg166Gly) Unknown - VUS g.12916587G>C - ELAC2(NM_018127.7):c.496C>G (p.(Arg166Gly)) - ARHGAP44_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.512C>T r.(?) p.(Pro171Leu) Unknown - VUS g.12916571G>A - ELAC2(NM_018127.6):c.512C>T (p.(Pro171Leu)) - ARHGAP44_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.650C>T r.(?) p.(Ser217Leu) Unknown - benign g.12915009G>A - ELAC2(NM_018127.7):c.650C>T (p.S217L) - ELAC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.841G>A r.(?) p.(Gly281Arg) Unknown - VUS g.12909099C>T - ELAC2(NM_018127.7):c.841G>A (p.(Gly281Arg)) - ARHGAP44_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.952C>T r.(?) p.(Gln318*) Unknown - VUS g.12908337G>A - ELAC2(NM_018127.7):c.952C>T (p.(Gln318*)) - ARHGAP44_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1018_1021dup r.(?) p.(Val341GlyfsTer25) Unknown - VUS g.12906855_12906858dup g.13003538_13003541dup ELAC2(NM_001165962.1):c.901_902insGTGG (p.(Val301GlyfsTer25)) - ELAC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1218+15C>T r.(=) p.(=) Unknown - benign g.12905743G>A - ELAC2(NM_018127.7):c.1218+15C>T - ARHGAP44_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1219-4dup r.spl? p.? Unknown - likely benign g.12905682dup - ELAC2(NM_018127.6):c.1219-4dupT - ARHGAP44_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1265T>G r.(?) p.(Leu422Arg) Unknown ACMG VUS g.12905630A>C g.13002313A>C - - ELAC2_000021 - PubMed: Isbister 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - CM CQG1 PubMed: Isbister 2020 - - - Australia - - - - - 1 Johan den Dunnen
-/. - c.1304+17A>T r.(=) p.(=) Unknown - benign g.12905574T>A - ELAC2(NM_018127.7):c.1304+17A>T - ARHGAP44_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1305-8T>C r.(=) p.(=) Unknown - benign g.12903599A>G - ELAC2(NM_018127.7):c.1305-8T>C - ARHGAP44_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1305-8_1305-7insTCTC r.(=) p.(=) Unknown - likely benign g.12903598_12903599insGAGA g.13000281_13000282insGAGA ELAC2(NM_001165962.1):c.1185-8_1185-7insTCTC (p.(=)) - ELAC2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1305-6dup r.(=) p.(=) Unknown - likely benign g.12903598dup g.13000281dup ELAC2(NM_001165962.1):c.1185-6dupC (p.(=)) - ELAC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1305-2A>G r.spl? p.? Unknown - likely pathogenic g.12903593T>C - ELAC2(NM_018127.6):c.1305-2A>G (p.?) - ARHGAP44_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1478C>T r.(?) p.(Pro493Leu) Parent #1 - pathogenic (recessive) g.12901771G>A g.12998454G>A NM_018127.6:c.1478C>T - ELAC2_000020 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat27 PubMed: Kemp 2011, PubMed: Taylor 2014 - F - Germany - 21d - - - 1 Johan den Dunnen
-/. - c.1560A>G r.(?) p.(Thr520=) Unknown - benign g.12899963T>C - ELAC2(NM_018127.7):c.1560A>G (p.T520=) - ARHGAP44_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1621G>A r.(?) p.(Ala541Thr) Unknown - benign g.12899902C>T g.12996585C>T ELAC2(NM_018127.7):c.1621G>A (p.A541T) - ELAC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1621G>A r.(?) p.(Ala541Thr) Parent #1 - benign g.12899902C>T g.12996585C>T - - ELAC2_000002 244 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5030739 Germline - 244/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 244 Mohammed Faruq
+/. - c.1621G>A r.(?) p.(Ala541Thr) Parent #2 - pathogenic (recessive) g.12899902C>T g.12996585C>T NM_018127.6:c.1621G>A - ELAC2_000002 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat27 PubMed: Kemp 2011, PubMed: Taylor 2014 - F - Germany - 21d - - - 1 Johan den Dunnen
-/. - c.1621G>A r.(?) p.(Ala541Thr) Both (homozygous) - benign g.12899902C>T g.12996585C>T - - ELAC2_000002 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5030739 Germline - 8/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-/. - c.1621G>A r.(?) p.(Ala541Thr) Unknown - benign g.12899902C>T - ELAC2(NM_018127.7):c.1621G>A (p.A541T) - ELAC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1698+5G>A r.spl? p.? Unknown - VUS g.12899252C>T g.12995935C>T ELAC2(NM_001165962.1):c.1578+5G>A (p.?) - ELAC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1840del r.(?) p.(Ala614Leufs*11) Unknown - pathogenic g.12898351del - ELAC2(NM_018127.7):c.1840delG (p.A614Lfs*11) - ARHGAP44_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1880C>T r.(?) p.(Ser627Leu) Unknown - likely benign g.12898308G>A g.12994991G>A ELAC2(NM_018127.6):c.1880C>T (p.S627L) - ELAC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1893A>G r.(?) p.(Thr631=) Unknown - benign g.12898295T>C - ELAC2(NM_018127.7):c.1893A>G (p.T631=) - ARHGAP44_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2053C>A r.(?) p.(His685Asn) Unknown - likely pathogenic g.12897797G>T - - - ARHGAP44_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2342G>A r.(?) p.(Arg781His) Parent #1 - VUS g.12896274C>T g.12992957C>T - - ELAC2_000019 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs119484086 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/. - c.2342G>A r.(?) p.(Arg781His) Unknown - likely pathogenic g.12896274C>T - ELAC2(NM_018127.7):c.2342G>A (p.(Arg781His), p.R781H) - ELAC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2342G>A r.(?) p.(Arg781His) Unknown - likely pathogenic g.12896274C>T - ELAC2(NM_018127.7):c.2342G>A (p.(Arg781His), p.R781H) - ELAC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2342G>A r.(?) p.(Arg781His) Unknown - VUS g.12896274C>T - ELAC2(NM_018127.7):c.2342G>A (p.(Arg781His), p.R781H) - ELAC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2353_2415dup r.(?) p.(Arg785_Asp805dup) Unknown - likely benign g.12896201_12896263dup - ELAC2(NM_018127.7):c.2353_2415dup (p.(Arg785_Asp805dup)) - ARHGAP44_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*629C>T r.(=) p.(=) Unknown - VUS g.12895506G>A g.12992189G>A - - ELAC2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
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