Full data view for gene CWF19L1

Information The variants shown are described using the NM_018294.4 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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.35G>A r.(?) p.(Gly12Glu) Unknown - likely pathogenic g.102021809C>T g.100262052C>T CWF19L1(NM_018294.5):c.35G>A (p.G12E) - CWF19L1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.37G>C r.37g>c p.Asp13His Paternal (confirmed) - likely pathogenic g.102021807C>G g.100262050C>G - - CWF19L1_000002 whole exome sequencing; RNA analysis fibroblasts, nonsense mediated mRNA decay PubMed: Nguyen 2015, Journal: Nguyen 2015 - - Germline yes - - - - DNA, RNA PCR, PCRq, SEQ-NG-I blood, fibroblasts - SCAR17 - PubMed: Nguyen 2015, Journal: Nguyen 2015 one affected in family, no sibs, parents unaffected heterozygous carriers F no Netherlands white - - - - 1 Mike Gerards
?/. - c.217A>G r.(?) p.(Asn73Asp) Unknown - VUS g.102020047T>C - CWF19L1(NM_018294.5):c.217A>G (p.N73D) - CWF19L1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.289+5G>A r.spl? p.? Unknown - likely pathogenic g.102019970C>T - - - CWF19L1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417G>A r.(?) p.(Met139Ile) Unknown - likely benign g.102016106C>T g.100256349C>T CWF19L1(NM_001303405.1):c.6G>A (p.M2I) - CWF19L1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.437T>A r.(?) p.(Phe146Tyr) Unknown - VUS g.102016086A>T g.100256329A>T CWF19L1(NM_001303405.1):c.26T>A (p.F9Y) - CWF19L1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.488A>G r.(?) p.(Asn163Ser) Unknown - likely benign g.102016035T>C - CWF19L1(NM_001303405.1):c.77A>G (p.N26S) - CWF19L1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.605dup r.(?) p.(Tyr202*) Both (homozygous) ACMG pathogenic (recessive) g.102013196dup g.100253439dup - - CWF19L1_000017 ACMG: PVS1, PM2_SUP, PM3_SUP PMID: 30202406 VCV000800879.1 - Germline ? - - - - DNA SEQ-NG-I - - SCAR17 199437 - - M yes Nepal - - - - - 1 Andreas Laner
+?/. - c.605dup r.(?) p.(Tyr202*) Both (homozygous) ACMG likely pathogenic g.102013196dup g.100253439dup CWF19L1, NM_018294.5, c.605dup, p.Tyr202* - CWF19L1_000017 homozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 17 PubMed: Alfares 2018 - M - - - - - - - 1 LOVD
?/. - c.656A>G r.(?) p.(His219Arg) Unknown - VUS g.102010057T>C g.100250300T>C CWF19L1(NM_018294.4):c.656A>G (p.(His219Arg)) - CWF19L1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850-6T>G r.(=) p.(=) Unknown - VUS g.102005676A>C - CWF19L1(NM_001303405.1):c.439-6T>G - CWF19L1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.946A>T r.946a>u p.Lys316* Maternal (confirmed) - pathogenic g.102005574T>A g.100245817T>A - - CWF19L1_000001 whole exome sequencing; RNA analysis fibroblasts, nonsense mediated mRNA decay PubMed: Nguyen 2015, Journal: Nguyen 2015 - - Germline yes - - - - DNA, RNA PCR, PCRq, SEQ-NG-I blood, fibroblasts - SCAR17 - PubMed: Nguyen 2015, Journal: Nguyen 2015 one affected in family, no sibs, parents unaffected heterozygous carriers F no Netherlands white - - - - 1 Mike Gerards
+/. - c.949C>T r.[(949c>u),spl] p.[(Gln317*),?] Both (homozygous) - pathogenic (recessive) g.102005571G>A g.100245814G>A - - CWF19L1_000010 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR106Pat1 PubMed: Santos-Cortez 2018 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 3 Johan den Dunnen
+/. - c.949C>T r.[(949c>u),spl] p.[(Gln317*),?] Both (homozygous) - pathogenic (recessive) g.102005571G>A g.100245814G>A - - CWF19L1_000010 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR106Pat4 PubMed: Santos-Cortez 2018 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. 9i c.964+1G>A r.850_964del p.Glu284Leufs*61 Both (homozygous) - pathogenic g.102005555C>T g.100245798C>T - - CWF19L1_000003 homozygosity mapping, whole exome sequencing; not in 400 control chromosomes; RNA analysis LCL cells, 6-fold reduced expression; no protein on Western blot; functionally tested by morpholino knock-down in zebra fish PubMed: Burns 2014; Journal: Burns 2014, OMIM:var0001 - rs587780326 Germline yes 1/65 families - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - SCAR17 - PubMed: Yapici 2005; Journal: Yapici 2005 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents and brother M yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.964+1G>A r.spl? p.? Unknown - pathogenic g.102005555C>T - CWF19L1(NM_018294.6):c.964+1G>A - CWF19L1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.964+1G>A r.spl? p.? Unknown - pathogenic g.102005555C>T - CWF19L1(NM_018294.6):c.964+1G>A - CWF19L1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1164T>C r.(?) p.(Tyr388=) Unknown - likely benign g.101997869A>G g.100238112A>G CWF19L1(NM_001303405.1):c.753T>C (p.Y251=) - CWF19L1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1255-7C>A r.(=) p.(=) Unknown - likely benign g.101996733G>T g.100236976G>T CWF19L1(NM_001303405.1):c.844-7C>A - CWF19L1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1283C>T r.(?) p.(Thr428Ile) Both (homozygous) ACMG VUS g.101996698G>A g.100236941G>A 1283C>T (Thr428Ile) - CWF19L1_000014 ACMG PM2, BP4 PubMed: Courage 2021, Journal: Courage 2021 - - Germline - - - - - DNA SEQ-NG - WES epilepsy PME54 PubMed: Courage 2021, Journal: Courage 2021 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1419A>C r.(?) p.(Thr473=) Unknown - likely benign g.101995477T>G - CWF19L1(NM_001303405.1):c.1008A>C (p.T336=) - CWF19L1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3811C>T r.(=) p.(=) Unknown - likely benign g.101989173G>A - CHUK(NM_001278.5):c.105+12C>T - CHUK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3812G>A r.(=) p.(=) Unknown - likely benign g.101989172C>T - CHUK(NM_001278.5):c.105+13G>A - CHUK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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