Full data view for gene FBXL3

Information The variants shown are described using the NM_012158.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.428G>A r.(?) p.(Gly143Glu) Unknown - VUS g.77592778C>T - - - FBXL3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.593A>G r.(?) p.(Asp198Gly) Unknown - VUS g.77589594T>C - - - FBXL3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.851C>G r.(?) p.(Ser284*) Unknown - likely pathogenic g.77581716G>C - FBXL3(NM_012158.4):c.851C>G (p.(Ser284*)) - FBXL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.884del r.(?) p.(Leu295TyrfsTer25) Both (homozygous) - pathogenic (recessive) g.77581691del g.77007556del 884delT - FBXL3_000004 - Journal: Paracha 2024 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES NDD Fam13 Journal: Paracha 2024 5-generation family, 5 affected (3F, 2M), heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 5 Muhammad Umair
+?/. - c.884dup r.(?) p.(Leu295Phefs*3) Unknown - likely pathogenic g.77581691dup - FBXL3(NM_012158.4):c.884dupT (p.L295Ffs*3) - FBXL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6202_*6205dup r.(=) p.(=) Unknown - VUS g.77575075_77575078dup - CLN5(NM_006493.2):c.1195_1198dupATCA (p.R400Nfs*131) - CLN5_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6208G>A r.(=) p.(=) Unknown - VUS g.77575072C>T - CLN5(NM_006493.2):c.1192C>T (p.(Pro349Ser)) - CLN5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6212A>G r.(=) p.(=) Unknown - likely benign g.77575068T>C g.77000933T>C CLN5(NM_006493.4):c.1041T>C (p.P347=) - CLN5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6215G>A r.(=) p.(=) Unknown - likely benign g.77575065C>T g.77000930C>T CLN5(NM_006493.2):c.1185C>T (p.I395=) - CLN5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6227T>C r.(=) p.(=) Unknown - likely benign g.77575053A>G - CLN5(NM_006493.2):c.1173A>G (p.T391=) - CLN5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6234T>G r.(=) p.(=) Unknown - VUS g.77575046A>C g.77000911A>C CLN5(NM_006493.2):c.1166A>C (p.K389T) - CLN5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6251C>A r.(=) p.(=) Unknown - VUS g.77575029G>T g.77000894G>T CLN5(NM_006493.2):c.1149G>T (p.M383I) - CLN5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6297T>C r.(=) p.(=) Unknown - benign g.77574983A>G g.77000848A>G CLN5(NM_006493.2):c.1103A>G (p.K368R), CLN5(NM_006493.4):c.956A>G (p.K319R) - CLN5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6297T>C r.(=) p.(=) Unknown - benign g.77574983A>G g.77000848A>G CLN5(NM_006493.2):c.1103A>G (p.K368R), CLN5(NM_006493.4):c.956A>G (p.K319R) - CLN5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6297T>C r.(=) p.(=) Unknown - benign g.77574983A>G g.77000848A>G CLN5(NM_006493.2):c.1103A>G (p.K368R), CLN5(NM_006493.4):c.956A>G (p.K319R) - CLN5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6297T>C r.(=) p.(=) Unknown - benign g.77574983A>G g.77000848A>G CLN5(NM_006493.2):c.1103A>G (p.K368R), CLN5(NM_006493.4):c.956A>G (p.K319R) - CLN5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6297T>C r.(=) p.(=) Unknown - benign g.77574983A>G g.77000848A>G CLN5(NM_006493.2):c.1103A>G (p.K368R), CLN5(NM_006493.4):c.956A>G (p.K319R) - CLN5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6328A>G r.(=) p.(=) Unknown - likely benign g.77574952T>C g.77000817T>C CLN5(NM_006493.4):c.925T>C (p.L309=) - CLN5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6441T>C r.(=) p.(=) Unknown - VUS g.77574839A>G - CLN5(NM_006493.4):c.812A>G (p.(Asn271Ser)) - CLN5_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6529A>G r.(=) p.(=) Unknown - likely benign g.77574751T>C - CLN5(NM_006493.2):c.871T>C (p.L291=) - CLN5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6570G>A r.(=) p.(=) Unknown - VUS g.77574710C>T g.77000575C>T CLN5(NM_006493.4):c.683C>T (p.S228F) - CLN5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6635T>G r.(=) p.(=) Unknown - likely benign g.77574645A>C g.77000510A>C CLN5(NM_006493.2):c.765A>C (p.G255=) - CLN5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6674G>T r.(=) p.(=) Unknown - likely benign g.77574606C>A g.77000471C>A CLN5(NM_006493.2):c.726C>A (p.N242K), CLN5(NM_006493.4):c.579C>A (p.N193K) - CLN5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6674G>T r.(=) p.(=) Unknown - likely benign g.77574606C>A g.77000471C>A CLN5(NM_006493.2):c.726C>A (p.N242K), CLN5(NM_006493.4):c.579C>A (p.N193K) - CLN5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6674G>T r.(=) p.(=) Unknown - benign g.77574606C>A - CLN5(NM_006493.2):c.726C>A (p.N242K), CLN5(NM_006493.4):c.579C>A (p.N193K) - CLN5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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