Unique variants in the CRYGS gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_017541.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.24T>A r.(?) p.(Ile8=) - likely benign g.186257384A>T g.186539595A>T CRYGS(NM_017541.3):c.24T>A (p.I8=) - CRYGS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.39C>A r.(?) p.(Asp13Glu) - VUS g.186257369G>T g.186539580G>T CRYGS(NM_017541.3):c.39C>A (p.D13E) - CRYGS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.53G>T r.(?) p.(Gly18Val) - pathogenic g.186257355C>A g.186539566C>A 1619G>T - CRYGS_000001 mapped by linkage (LOD score 6.34) PubMed: Sun 2005, OMIM:var0001 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.77A>G r.(?) p.(Asp26Gly) - VUS g.186257331T>C g.186539542T>C CRYGS(NM_017541.3):c.77A>G (p.D26G) - CRYGS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.116C>G r.(?) p.(Ser39Cys) - pathogenic g.186257292G>C g.186539503G>C - - CRYGS_000002 not in 200 control chromosomes PubMed: Devi 2008 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 2 c.124G>A r.(?) p.(Val42Met) - likely pathogenic, pathogenic g.186257284C>T g.186539495C>T 176G>A - CRYGS_000003 not in 200 control chromosomes, VKGL data sharing initiative Nederland PubMed: Vanita 2009 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-?/. 1 - c.206A>C r.(?) p.(Glu69Ala) - likely benign g.186257202T>G g.186539413T>G CRYGS(NM_017541.2):c.206A>C (p.(Glu69Ala)) - CRYGS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.207A>C r.(?) p.(Glu69Asp) - likely benign g.186257201T>G g.186539412T>G CRYGS(NM_017541.2):c.207A>C (p.(Glu69Asp)) - CRYGS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.305G>A r.(?) p.(Gly102Glu) - VUS g.186256717C>T - CRYGS(NM_017541.3):c.305G>A (p.G102E) - CRYGS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.306G>A r.(?) p.(Gly102=) - likely benign g.186256716C>T g.186538927C>T CRYGS(NM_017541.3):c.306G>A (p.G102=) - CRYGS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.336C>T r.(?) p.(Thr112=) - likely benign g.186256686G>A g.186538897G>A CRYGS(NM_017541.3):c.336C>T (p.T112=) - CRYGS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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