Full data view for gene ELL2

Information The variants shown are described using the NM_012081.5 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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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.-471422T>C r.(?) p.(=) Unknown - benign g.95768847A>G g.96433143A>G PCSK1(NM_000439.5):c.-101T>C - PCSK1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-471417C>T r.(?) p.(=) Unknown - benign g.95768842G>A g.96433138G>A PCSK1(NM_000439.5):c.-96C>T - PCSK1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-471304G>A r.(?) p.(=) Unknown - pathogenic g.95768729C>T g.96433025C>T PCSK1(NM_000439.4):c.18G>A (p.W6*) - PCSK1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-471163G>A r.(?) p.(=) Unknown - benign g.95768588C>T - PCSK1(NM_000439.5):c.159G>A (p.L53=) - ELL2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-471158del r.(?) p.(=) Unknown - likely pathogenic g.95768583del - PCSK1(NM_000439.5):c.164delA (p.Y55Lfs*42) - ELL2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-470495A>G r.(?) p.(=) Unknown - benign g.95767920T>C - PCSK1(NM_000439.5):c.180+647A>G - ELL2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-470385A>G r.(?) p.(=) Unknown - likely benign g.95767810T>C - PCSK1(NM_001177875.2):c.16A>G (p.I6V) - ELL2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-470373T>C r.(?) p.(=) Unknown - benign g.95767798A>G g.96432094A>G PCSK1(NM_001177875.1):c.28T>C (p.F10L) - PCSK1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-467594T>C r.(?) p.(=) Unknown - likely benign g.95765019A>G - PCSK1(NM_000439.5):c.183T>C (p.I61=) - ELL2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-467587C>G r.(?) p.(=) Unknown - VUS g.95765012G>C - PCSK1(NM_000439.5):c.190C>G (p.L64V) - ELL2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-467519C>T r.(?) p.(=) Unknown - likely benign g.95764944G>A - PCSK1(NM_000439.5):c.258C>T (p.I86=) - ELL2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-464161G>A r.(?) p.(=) Unknown - likely benign g.95761586C>T g.96425882C>T PCSK1(NM_000439.5):c.334G>A (p.A112T) - PCSK1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-464161G>A r.(?) p.(=) Unknown - likely benign g.95761586C>T - PCSK1(NM_000439.5):c.334G>A (p.A112T) - PCSK1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-464120G>A r.(?) p.(=) Unknown - likely pathogenic g.95761545C>T g.96425841C>T PCSK1(NM_000439.5):c.375G>A (p.M125I) - PCSK1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-464100T>A r.(?) p.(=) Unknown - pathogenic g.95761525A>T g.96425821A>T PCSK1(NM_000439.5):c.395T>A (p.L132*) - PCSK1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-461748T>C r.(?) p.(=) Unknown - likely benign g.95759173A>G g.96423469A>G PCSK1(NM_000439.4):c.397-10T>C, PCSK1(NM_000439.5):c.397-10T>C - PCSK1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-461748T>C r.(?) p.(=) Unknown - likely benign g.95759173A>G g.96423469A>G PCSK1(NM_000439.4):c.397-10T>C, PCSK1(NM_000439.5):c.397-10T>C - PCSK1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-461748T>C r.(?) p.(=) Unknown - benign g.95759173A>G - PCSK1(NM_000439.4):c.397-10T>C, PCSK1(NM_000439.5):c.397-10T>C - PCSK1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-461595C>A r.(?) p.(=) Unknown - VUS g.95759020G>T - PCSK1(NM_000439.5):c.540C>A (p.N180K) - ELL2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-461594T>C r.(?) p.(=) Unknown - VUS g.95759019A>G - PCSK1(NM_000439.4):c.541T>C (p.Y181H), PCSK1(NM_000439.5):c.541T>C (p.Y181H) - ELL2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-461594T>C r.(?) p.(=) Unknown - VUS g.95759019A>G - PCSK1(NM_000439.4):c.541T>C (p.Y181H), PCSK1(NM_000439.5):c.541T>C (p.Y181H) - ELL2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-460180A>G r.(?) p.(=) Unknown - VUS g.95757605T>C - PCSK1(NM_000439.5):c.599A>G (p.Y200C) - ELL2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-460167C>T r.(?) p.(=) Unknown - benign g.95757592G>A g.96421888G>A PCSK1(NM_000439.5):c.612C>T (p.N204=) - PCSK1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-460167C>T r.(?) p.(=) Unknown - benign g.95757592G>A - PCSK1(NM_000439.5):c.612C>T (p.N204=) - PCSK1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-454397C>T r.(?) p.(=) Unknown - likely benign g.95751822G>A - PCSK1(NM_000439.5):c.624C>T (p.H208=) - ELL2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-454360A>G r.(?) p.(=) Unknown - benign g.95751785T>C g.96416081T>C PCSK1(NM_000439.5):c.661A>G (p.N221D) - PCSK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-454360A>G r.(?) p.(=) Unknown - benign g.95751785T>C - PCSK1(NM_000439.5):c.661A>G (p.N221D) - PCSK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-450773_-450765del r.(?) p.(=) Unknown - VUS g.95748190_95748198del - PCSK1(NM_000439.4):c.710-4_714delTCAGGCATA, PCSK1(NM_000439.5):c.710-4_714delTCAGGCATA - ELL2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-450773_-450765del r.(?) p.(=) Unknown - VUS g.95748190_95748198del - PCSK1(NM_000439.4):c.710-4_714delTCAGGCATA, PCSK1(NM_000439.5):c.710-4_714delTCAGGCATA - ELL2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-450698G>A r.(?) p.(=) Unknown - likely benign g.95748123C>T - PCSK1(NM_000439.5):c.781G>A (p.V261M) - PCSK1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-450678C>T r.(?) p.(=) Unknown - VUS g.95748103G>A g.96412399G>A PCSK1(NM_000439.5):c.801C>T (p.S267=) - PCSK1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-449239C>T r.(?) p.(=) Unknown - benign g.95746664G>A - PCSK1(NM_000439.5):c.909C>T (p.F303=) - ELL2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-449221C>T r.(?) p.(=) Unknown - benign g.95746646G>A - PCSK1(NM_000439.5):c.927C>T (p.N309=) - ELL2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-449203T>C r.(?) p.(=) Unknown - likely benign g.95746628A>G - PCSK1(NM_000439.5):c.945T>C (p.D315=) - ELL2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-449119C>T r.(?) p.(=) Unknown - likely benign g.95746544G>A - PCSK1(NM_000439.5):c.1029C>T (p.Y343=) - ELL2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-448930A>C r.(?) p.(=) Unknown - benign g.95746355T>G - PCSK1(NM_000439.5):c.1095+123A>C - ELL2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-446612C>T r.(?) p.(=) Unknown - benign g.95744037G>A - PCSK1(NM_000439.5):c.1096-10C>T - ELL2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-446552G>A r.(?) p.(=) Unknown - benign g.95743977C>T - PCSK1(NM_000439.5):c.1146G>A (p.S382=) - ELL2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-446519T>C r.(?) p.(=) Unknown - likely benign g.95743944A>G - PCSK1(NM_000439.5):c.1179T>C (p.A393=) - ELL2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-446519T>G r.(?) p.(=) Unknown - benign g.95743944A>C - PCSK1(NM_000439.5):c.1179T>G (p.A393=) - ELL2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-446483C>G r.(?) p.(=) Unknown - likely benign g.95743908G>C - PCSK1(NM_000439.5):c.1196+19C>G - ELL2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-446283G>A r.(?) p.(=) Unknown - benign g.95743708C>T - PCSK1(NM_000439.5):c.1196+219G>A - ELL2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-438770C>T r.(?) p.(=) Unknown - benign g.95736195G>A - PCSK1(NM_000439.5):c.1197-305C>T - ELL2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-438474C>T r.(?) p.(=) Unknown - likely benign g.95735899G>A g.96400195G>A PCSK1(NM_000439.5):c.1197-9C>T - PCSK1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-438474C>T r.(?) p.(=) Unknown - benign g.95735899G>A - PCSK1(NM_000439.5):c.1197-9C>T - PCSK1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-438225A>G r.(?) p.(=) Unknown - likely benign g.95735650T>C - PCSK1(NM_000439.5):c.1430+7A>G - ELL2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-437249T>C r.(?) p.(=) Unknown - likely benign g.95734674A>G - PCSK1(NM_000439.5):c.1497T>C (p.N499=) - ELL2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-437228T>C r.(?) p.(=) Unknown - likely benign g.95734653A>G - PCSK1(NM_000439.5):c.1518T>C (p.H506=) - ELL2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-437197C>T r.(?) p.(=) Unknown - likely pathogenic g.95734622G>A - PCSK1(NM_000439.5):c.1549C>T (p.R517*) - ELL2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-437161G>A r.(?) p.(=) Unknown - VUS g.95734586C>T - PCSK1(NM_000439.5):c.1585G>A (p.A529T) - ELL2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-435687T>C r.(?) p.(=) Unknown - benign g.95733112A>G g.96397408A>G PCSK1(NM_000439.5):c.1650T>C (p.N550=) - PCSK1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-435687T>C r.(?) p.(=) Unknown - benign g.95733112A>G g.96397408A>G PCSK1(NM_000439.5):c.1650T>C (p.N550=) - PCSK1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-435687T>C r.(?) p.(=) Unknown - benign g.95733112A>G - PCSK1(NM_000439.5):c.1650T>C (p.N550=) - PCSK1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-435561A>G r.(?) p.(=) Unknown - benign g.95732986T>C - PCSK1(NM_000439.5):c.1722+54A>G - ELL2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-433263G>A r.(?) p.(=) Unknown - likely benign g.95730688C>T g.96394984C>T PCSK1(NM_000439.5):c.1764G>A (p.K588=) - PCSK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-433263G>A r.(?) p.(=) Unknown - benign g.95730688C>T - PCSK1(NM_000439.5):c.1764G>A (p.K588=) - PCSK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-433203G>A r.(?) p.(=) Unknown - likely benign g.95730628C>T - PCSK1(NM_000439.5):c.1824G>A (p.T608=) - ELL2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-433157G>A r.(?) p.(=) Unknown - VUS g.95730582C>T - PCSK1(NM_000439.5):c.1870G>A (p.V624M) - PCSK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-433130C>G r.(?) p.(=) Unknown - likely benign g.95730555G>C - PCSK1(NM_000439.5):c.1884+13C>G - ELL2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-431624A>G r.(?) p.(=) Unknown - benign g.95729049T>C g.96393345T>C PCSK1(NM_000439.4):c.1918A>G (p.T640A), PCSK1(NM_000439.5):c.1918A>G (p.T640A) - PCSK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-431624A>G r.(?) p.(=) Unknown - likely benign g.95729049T>C g.96393345T>C PCSK1(NM_000439.4):c.1918A>G (p.T640A), PCSK1(NM_000439.5):c.1918A>G (p.T640A) - PCSK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-431624A>G r.(?) p.(=) Unknown - likely benign g.95729049T>C - PCSK1(NM_000439.4):c.1918A>G (p.T640A), PCSK1(NM_000439.5):c.1918A>G (p.T640A) - PCSK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-431619G>A r.(?) p.(=) Unknown - benign g.95729044C>T - PCSK1(NM_000439.5):c.1923G>A (p.L641=) - ELL2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-431592C>T r.(?) p.(=) Unknown - likely benign g.95729017G>A - PCSK1(NM_000439.5):c.1950C>T (p.S650=) - ELL2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-431551C>T r.(?) p.(=) Unknown - likely benign g.95728976G>A g.96393272G>A PCSK1(NM_000439.5):c.1991C>T (p.S664F) - PCSK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-431549C>G r.(?) p.(=) Unknown - benign g.95728974G>C g.96393270G>C PCSK1(NM_000439.5):c.1993C>G (p.Q665E) - PCSK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-431549C>G r.(?) p.(=) Unknown - benign g.95728974G>C - PCSK1(NM_000439.5):c.1993C>G (p.Q665E) - PCSK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-431473G>C r.(?) p.(=) Unknown - benign g.95728898C>G g.96393194C>G PCSK1(NM_000439.5):c.2069G>C (p.S690T) - PCSK1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-431473G>C r.(?) p.(=) Unknown - benign g.95728898C>G - PCSK1(NM_000439.5):c.2069G>C (p.S690T) - PCSK1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-431445C>T r.(?) p.(=) Unknown - benign g.95728870G>A - PCSK1(NM_000439.5):c.2097C>T (p.N699=) - ELL2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-431328C>T r.(?) p.(=) Unknown - likely benign g.95728753G>A - PCSK1(NM_000439.5):c.2214C>T (p.D738=) - ELL2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-431285A>C r.(?) p.(=) Unknown - likely benign g.95728710T>G - PCSK1(NM_000439.5):c.2257A>C (p.N753H) - ELL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1845A>G r.(?) p.(=) Unknown - likely benign g.95224653T>C - ELL2(NM_012081.6):c.1845A>G (p.(Glu615=)) - ELL2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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