LOVD - Variant listings for PDE6B

About this overview [Show]

28 public entries
entries per page

Path. Hide Path. column Descending
Ascending

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

Var_pub_as Hide Var_pub_as column Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

Variant remarks Hide Variant remarks column Descending
Ascending

Origin Hide Origin column Descending
Ascending

Reference Hide Reference column Descending
Ascending

Detection/Template Hide Detection/Template column Descending
Ascending

Detection/Technique Hide Detection/Technique column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

RE-site Hide RE-site column Descending
Ascending

Disease Hide Disease column Descending
Ascending

Phenotype additional Hide Phenotype additional column Descending
Ascending

Remarks Hide Remarks column Descending
Ascending

Reference Hide Reference column Descending
Ascending

Inheritance Hide Inheritance column Descending
Ascending

Consanguinity Hide Consanguinity column Descending
Ascending

Families/Patients Hide Families/Patients column Descending
Ascending

# Reported Hide # Reported column Descending
Ascending

Geographic origin Hide Geographic origin column Descending
Ascending

Ethnic origin Hide Ethnic origin column Descending
Ascending

Gender Hide Gender column Descending
Ascending

Age_onset Hide Age_onset column Descending
Ascending

Phenotype_onset Hide Phenotype_onset column Descending
Ascending
+?/? 1 c.3G>T
    + INVS (2)
- r.(?) p.(M1?) PDE6B_00011 considered benign for patient (only 1 case of dominant inheritance reported for predicted potentially pathogenic variant); does not segregate with disease germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M ? -
+/? 1 c.299G>A
    + c.1927_1969delinsGG
- r.(?) p.(R100H) PDE6B_00010 - germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M 12y -
-/? 2 c.496G>A
    + SEMA4A (1), CRB1 (1)
- r.(?) p.(E166K) PDE6B_00012 predicted benign; does not segregate with disease germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M 68y -
-/? 3 c.655T>C
    + CACNA1F (1)
- r.(?) p.(Y219H) PDE6B_00013 predicted benign; does not segregate with disease, not segregating with disease in other family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa congenital stationary night blindness - Netherlands:Nijmegen - - ? 1 - - M 0d -
-/? 3 c.655T>C
    + c.2503+5G>C, RP1 (2), SEMA4A (2), GUCY2D (1)
- r.(?) p.(Y219H) PDE6B_00013 predicted benign germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa hypertension - Netherlands:Nijmegen - - ? 1 - - M ? -
-/? 3 c.655T>C
    + c.1401+4C>T, c.2326G>A, CRB1 (1), SEMA4A (1)
- r.(?) p.(Y219H) PDE6B_00013 predicted benign; segregates in family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M 7y -
-/? 3 c.655T>C
    + CACNA2D4 (2), CRB1 (1), C2orf71 (1)
- r.(?) p.(Y219H) PDE6B_00013 predicted benign; does not segregate with disease, not segregating with disease in other family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M ? -
+?/? 4 c.801C>A
    + NPHP3 (2), GUCY2D (1), ABCA4 (2), RP9 (1)
- r.(?) p.(Y267*) PDE6B_00014 predicted to affect function, but insufficient evidence for definite conclusion; does not segregate with disease germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa Wilm's tumor - Netherlands:Nijmegen - - ? 1 - - M 4y -
+/? 5 c.892C>T
    + c.892C>T, CACNA1F (1)
- r.(?) p.(Q298*) PDE6B_00015 - germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa age-related mild hearing loss, psoriasis - Netherlands:Nijmegen - - ? 1 - - M 10y -
+/? 5 c.892C>T
    + c.892C>T, CACNA1F (1)
- r.(?) p.(Q298*) PDE6B_00015 - germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa age-related mild hearing loss, psoriasis - Netherlands:Nijmegen - - ? 1 - - M 10y -
?/? 6i c.1060-13G>A
    + GUCA1B (1)
- r.(spl?) p.(?) PDE6B_00002 considered benign for patient (only 1 case of dominant inheritance reported for predicted potentially pathogenic variant) germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M ? -
?/? 6i c.1060-13G>A
    + TOPORS (1), CA4 (1)
- r.(spl?) p.(?) PDE6B_00002 does not segregate with disease germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - F ? -
+/? 7 c.1043_1044insCG
    + c.1927_1969delinsGG, AHI1 (2), EYS (2)
- r.(?) p.(A349fs) PDE6B_00001 - germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M ? -
+?/? 8i c.1107+3A>G
    + EYS (2), GUCA1B (1), CACNA1F (1)
- r.(spl?) p.(?) PDE6B_00003 considered benign for patient (only 1 case of dominant inheritance reported for predicted potentially pathogenic variant); does not segregate with disease germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - F ? -
+/? 8i c.1107+3A>G
    + c.1107+3A>G
- r.(spl?) p.(?) PDE6B_00003 segregates in family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M 10y -
+/? 8i c.1107+3A>G
    + c.1107+3A>G
- r.(spl?) p.(?) PDE6B_00003 segregates in family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M 10y -
+?/? 9 c.1189G>A
    + c.1859A>G
- r.(?) p.(Gly397Arg) PDE6B_00016 - unknown - DNA SEQ - - Retinitis pigmentosa (RP) - Previous tests done: RPR-A, RPD-A Netherlands:Nijmegen isolated (sporadic) - - 1 - - - - -
?/? 10i c.1401+4C>T
    + c.655T>C, c.2326G>A, CRB1 (1), SEMA4A (1)
- r.(spl?) p.(?) PDE6B_00005 segregates in family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M 7y -
?/? 10i c.1401+4_1401+16delinsTGGCAGGGGCAGGT
    + c.1927_1969delinsGG, c.2326G>A
1401+4_1401+16delins14 r.(spl?) p.? PDE6B_00004 segregates in family germline (inherited) Neveling 2012, submitted DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M 27y -
+?/? 15 c.1859A>G
    + c.1189G>A
- r.(?) p.(His620Arg) PDE6B_00017 - unknown - DNA SEQ - - Retinitis pigmentosa (RP) - Previous tests done: RPR-A, RPD-A Netherlands:Nijmegen isolated (sporadic) - - 1 - - - - -
+/? 15i c.1920+2T>C
    + c.1920+2T>C, SNRNP200 (1), PRPH2 (1), RGR (1)
- r.(spl?) p.(?) PDE6B_00006 segregates in family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M 6y -
+/? 15i c.1920+2T>C
    + c.1920+2T>C, SNRNP200 (1), PRPH2 (1), RGR (1)
- r.(spl?) p.(?) PDE6B_00006 segregates in family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M 6y -
+/? 16 c.1927_1969delinsGG
    + c.1043_1044insCG, AHI1 (2), EYS (2)
- r.(?) p.(N643fs) PDE6B_00007 - germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M ? -
+?/? 16 c.1927_1969delinsGG
    + c.1401+4_1401+16delinsTGGCAGGGGCAGGT, c.2326G>A
- r.(?) p.(N643fs) PDE6B_00007 predicted to affect function, but insufficient evidence for definite conclusion; segregates in family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M 27y -
+/? 16 c.1927_1969delinsGG
    + c.299G>A
- r.(?) p.(N643fs) PDE6B_00007 - germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M 12y -
+?/? 20 c.2326G>A
    + c.1401+4_1401+16delinsTGGCAGGGGCAGGT, c.1927_1969delinsGG
- r.(?) p.(D776N) PDE6B_00008 predicted to affect function, but insufficient evidence for definite conclusion; segregates in family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M 27y -
+?/? 20 c.2326G>A
    + c.655T>C, c.1401+4C>T, CRB1 (1), SEMA4A (1)
- r.(?) p.(D776N) PDE6B_00008 predicted to affect function, but insufficient evidence for definite conclusion; segregates in family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa - - Netherlands:Nijmegen - - ? 1 - - M 7y -
+?/? 21i c.2503+5G>C
    + c.655T>C, RP1 (2), SEMA4A (2), GUCY2D (1)
- r.(spl?) p.(?) PDE6B_00009 predicted to affect function, but insufficient evidence for definite conclusion, disease-related variants in other gene germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - retinitis pigmentosa hypertension - Netherlands:Nijmegen - - ? 1 - - M ? -
1 - 28

Legend: [ PDE6B full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: number of exon/intron containing variant; 02 = exon 2, 12i = intron 12, 01_08 = exons 1 to 8 DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein: Protein PDE6B DB-ID: DB-ID Variant remarks: Variant remarks Origin: origin of variant; unknown, germline (inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Reference: Reference Detection/Template: Detection/Template Detection/Technique: technique(s) used to identify the sequence variant; select multiple when more were used. For SEQ-NG indicate in the Remarks-column the number of reads showing the variant (e.g. 47/96 reads, 123/123 reads), select a second technique to indicate whether or not the variant was confirmed using another method (e.g. SEQ). Frequency: Frequency RE-site: RE-site Disease: Disease phenotype Phenotype additional: Phenotype, additional features Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consanguinity: ndicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Families/Patients: number of familes (patients) = number independent families (number affected patients), like 1 (2) for 1 family with 2 patients # Reported: Number of times this case has been reported Geographic origin: Geographic origin Ethnic origin: Ethnic origin Gender: individual's gender; ? = unknown, - = not applicable, F = female, M = male, rF = raised as female, rM = raised as male Age_onset: age at onset first disease symptoms; 20y (ate age 20 years), 13m (13 months), 7d (7 days) Phenotype_onset: Phenotype_onset