Full data view for gene ELAVL3

Information The variants shown are described using the NM_001420.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.-5140G>A r.(?) p.(=) Unknown - VUS g.11596563C>T - ZNF653(NM_138783.4):c.1478G>A (p.R493Q) - ECSIT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.127G>A r.(?) p.(Val43Ile) Unknown - VUS g.11577525C>T g.11466710C>T ELAVL3(NM_001420.3):c.127G>A (p.(Val43Ile)) - ELAVL3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1004A>G r.(?) p.(Tyr335Cys) Unknown - VUS g.11565441T>C - ELAVL3(NM_001420.4):c.1004A>G (p.(Tyr335Cys)) - ELAVL3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3712A>G r.(=) p.(=) Unknown - benign g.11561629T>C - - - ELAVL3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5252G>A r.(=) p.(=) Unknown - likely benign g.11560089C>T - PRKCSH(NM_002743.3):c.1449C>T (p.L483=) - ELAVL3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5434T>C r.(=) p.(=) Unknown - likely benign g.11559907A>G g.11449092A>G - - ELAVL3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5452T>C r.(=) p.(=) Unknown - pathogenic g.11559889A>G g.11449074A>G PRKCSH(NM_002743.3):c.1341-2A>G - PRKCSH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5452T>C r.(=) p.(=) Unknown - pathogenic g.11559889A>G - PRKCSH(NM_002743.3):c.1341-2A>G - PRKCSH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5540A>G r.(=) p.(=) Unknown - benign g.11559801T>C g.11448986T>C - - ELAVL3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5609G>C r.(=) p.(=) Unknown - pathogenic g.11559732C>G - PRKCSH(NM_002743.3):c.1269C>G (p.Y423*) - ELAVL3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5609G>T r.(=) p.(=) Unknown - pathogenic g.11559732C>A - - - ELAVL3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5883T>C r.(=) p.(=) Unknown - benign g.11559458A>G g.11448643A>G - - ELAVL3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5932G>T r.(=) p.(=) Unknown - pathogenic g.11559409C>A - PRKCSH(NM_002743.3):c.1230C>A (p.Y410*) - ELAVL3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6771C>T r.(=) p.(=) Unknown - likely benign g.11558570G>A - PRKCSH(NM_002743.3):c.1071G>A (p.P357=) - ELAVL3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6808G>A r.(=) p.(=) Unknown - likely benign g.11558533C>T - PRKCSH(NM_002743.3):c.1034C>T (p.P345L) - ELAVL3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6899A>G r.(=) p.(=) Unknown - likely benign g.11558442T>C g.11447627T>C PRKCSH(NM_001289103.1):c.1029+9T>C - ELAVL3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6928C>T r.(=) p.(=) Unknown - likely benign g.11558413G>A - PRKCSH(NM_001289103.1):c.1009G>A (p.V337M) - ELAVL3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6961C>T r.(=) p.(=) Unknown - likely benign g.11558380G>A g.11447565G>A PRKCSH(NM_001289103.1):c.976G>A (p.A326T), PRKCSH(NM_002743.3):c.976G>A (p.A326T) - PRKCSH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6961C>T r.(=) p.(=) Unknown - likely benign g.11558380G>A g.11447565G>A PRKCSH(NM_001289103.1):c.976G>A (p.A326T), PRKCSH(NM_002743.3):c.976G>A (p.A326T) - PRKCSH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6961C>T r.(=) p.(=) Unknown - likely benign g.11558380G>A - PRKCSH(NM_001289103.1):c.976G>A (p.A326T), PRKCSH(NM_002743.3):c.976G>A (p.A326T) - PRKCSH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6995_*7000del r.(=) p.(=) Unknown - benign g.11558367_11558372del g.11447552_11447557del PRKCSH(NM_002743.3):c.963_968delGGAGGA (p.E324_E325del) - PRKCSH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6998_*7000del r.(=) p.(=) Unknown - likely benign g.11558370_11558372del g.11447555_11447557del PRKCSH(NM_001001329.1):c.940_942del (p.(Glu315del)), PRKCSH(NM_001289103.1):c.966_968delGGA (p.E325del), PRKCSH(NM_001289103.2):c.966_968delGGA (p...) - PRKCSH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6998_*7000del r.(=) p.(=) Unknown - VUS g.11558370_11558372del g.11447555_11447557del PRKCSH(NM_001001329.1):c.940_942del (p.(Glu315del)), PRKCSH(NM_001289103.1):c.966_968delGGA (p.E325del), PRKCSH(NM_001289103.2):c.966_968delGGA (p...) - PRKCSH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6998_*7000del r.(=) p.(=) Unknown - benign g.11558370_11558372del g.11447555_11447557del PRKCSH(NM_001001329.1):c.940_942del (p.(Glu315del)), PRKCSH(NM_001289103.1):c.966_968delGGA (p.E325del), PRKCSH(NM_001289103.2):c.966_968delGGA (p...) - PRKCSH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6998_*7000del r.(=) p.(=) Unknown - benign g.11558370_11558372del g.11447555_11447557del PRKCSH(NM_001001329.1):c.940_942del (p.(Glu315del)), PRKCSH(NM_001289103.1):c.966_968delGGA (p.E325del), PRKCSH(NM_001289103.2):c.966_968delGGA (p...) - PRKCSH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6998_*7000dup r.(=) p.(=) Unknown - benign g.11558370_11558372dup g.11447555_11447557dup PRKCSH(NM_001289103.1):c.966_968dupGGA (p.E325dup), PRKCSH(NM_002743.3):c.966_968dupGGA (p.E325dup) - ELAVL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6998_*7000dup r.(=) p.(=) Unknown - benign g.11558370_11558372dup - PRKCSH(NM_001289103.1):c.966_968dupGGA (p.E325dup), PRKCSH(NM_002743.3):c.966_968dupGGA (p.E325dup) - ELAVL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7101A>G r.(=) p.(=) Unknown - benign g.11558240T>C g.11447425T>C PRKCSH(NM_001289103.1):c.850-14T>C, PRKCSH(NM_002743.3):c.850-14T>C - PRKCSH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7101A>G r.(=) p.(=) Unknown - benign g.11558240T>C g.11447425T>C PRKCSH(NM_001289103.1):c.850-14T>C, PRKCSH(NM_002743.3):c.850-14T>C - PRKCSH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7101A>G r.(=) p.(=) Unknown - benign g.11558240T>C g.11447425T>C PRKCSH(NM_001289103.1):c.850-14T>C, PRKCSH(NM_002743.3):c.850-14T>C - PRKCSH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7106G>A r.(=) p.(=) Unknown - likely benign g.11558235C>T - PRKCSH(NM_002743.3):c.850-19C>T - ELAVL3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7392C>T r.(=) p.(=) Unknown - likely benign g.11557949G>A - PRKCSH(NM_001289103.1):c.823G>A (p.A275T) - ELAVL3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7403C>T r.(=) p.(=) Unknown - likely benign g.11557938G>A g.11447123G>A PRKCSH(NM_001289103.1):c.812G>A (p.R271H), PRKCSH(NM_002743.3):c.812G>A (p.R271H) - ELAVL3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7403C>T r.(=) p.(=) Unknown - likely benign g.11557938G>A - PRKCSH(NM_001289103.1):c.812G>A (p.R271H), PRKCSH(NM_002743.3):c.812G>A (p.R271H) - ELAVL3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7408G>A r.(=) p.(=) Unknown - benign g.11557933C>T - PRKCSH(NM_002743.3):c.807C>T (p.Y269=) - ELAVL3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*8174A>G r.(=) p.(=) Unknown - pathogenic g.11557167T>C g.11446352T>C - - ELAVL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8185C>T r.(=) p.(=) Unknown - likely benign g.11557156G>A g.11446341G>A PRKCSH(NM_001289103.1):c.753G>A (p.A251=) - ELAVL3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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