Full data view for gene PDE6B

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000283.3 transcript reference sequence.

833 entries on 9 pages. Showing entries 1 - 100.
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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.1923_1971delinsTCTGGGTA r.(?) p.(Asn643GlyfsTer29) Parent #2 - pathogenic (recessive) g.657561_657609delinsTCTGGGTA g.663772_663820delinsTCTGGGTA - - PDE6B_000206 - PubMed: Van Huet 2015 - - Germline - - - - - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 - - - Netherlands - - - - - 1 LOVD
./. - c.-547864_*2711741del r.0? p.0? Unknown - pathogenic g.71552_3375637del - - - IDUA_000000 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. _1_22_ c.-53_*785{0} r.0? p.0? Unknown - likely pathogenic g.(?_619411)_(663901_?)del - c.(?_-1)_(*1_?)del - PDE6B_000287 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 14016924 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.? r.? p.? Both (homozygous) ACMG pathogenic (recessive) g.? - NM_001145292:703delC (L235Wfs*33) - TRAPPC11_000000 - PubMed: Zhang 2016 - - Germline - - - - - DNA SEQ-NG - 226-gene panel retinal disease BLM022 PubMed: Zhang 2016 family F - United States Hispanic - - - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - E55X - TRAPPC11_000000 - PubMed: Shanks 2013 - - Germline - - - - - DNA SEQ-NG, PCR - - retinal disease - PubMed: Shanks-2013 novel - - - - - - - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - Q298X - TRAPPC11_000000 - PubMed: Shanks 2013 - - Germline - - - - - DNA SEQ-NG, PCR - - retinal disease - PubMed: Shanks-2013 - - - - - - - - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - c.2194-1 - TRAPPC11_000000 - PubMed: Shanks 2013 - - Germline - - - - - DNA SEQ-NG, PCR - - retinal disease - PubMed: Shanks-2013 - - - - - - - - - 1 LOVD
?/. - c.? r.spl p.(?) Unknown - VUS g.619019_664928del - PDE6B chr4:619019_664928del - TRAPPC11_000000 whole gene deletion, unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, PCRq blood - retinal disease 121-1066 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.1A>G r.? p.? Both (homozygous) - pathogenic (recessive) g.619416A>G - 4:619416A>G ENST00000496514.1:c.1A>G (Met1?) - PDE6B_000179 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000378 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) - likely pathogenic g.619416A>G g.625627A>G PDE6B c.1A>G, p.Met1? - PDE6B_000179 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000378 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.2T>C r.(?) p.(Met1?) Parent #2 - likely pathogenic g.619417T>C g.625628T>C - - PDE6B_000190 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 439 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 1 c.3dup r.(?) p.(Met1?) Both (homozygous) ACMG likely pathogenic g.619418dup g.625629dup NM_000283.3:c.3dup, NP_000274.2:p.(Met1?), NC_000004.11:g.619418dup - PDE6B_000255 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016111420 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. - c.3dup r.(?) p.(Met1?) Unknown - likely pathogenic g.619418dup g.625629dup c.3dup, p.Ser2Glufs*4 - PDE6B_000255 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18070019_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. 1 c.3dup r.(?) p.(Ser2Glufs*4) Both (homozygous) - likely pathogenic (recessive) g.619418dup - c.3dupG - PDE6B_000255 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 1 c.3G>T r.(?) p.(M1?) Parent #1 - likely pathogenic g.619418G>T g.625629G>T - - PDE6B_000011 considered benign for patient (only 1 case of dominant inheritance reported for predicted potentially pathogenic variant); does not segregate with disease PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+/. - c.3G>T r.(?) p.(Met1?) Parent #1 - pathogenic g.619418G>T g.625629G>T - - PDE6B_000011 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat12 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
-?/. - c.23C>T r.(?) p.(Ala8Val) Unknown - likely benign g.619438C>T g.625649C>T PDE6B(NM_000283.3):c.23C>T (p.A8V) - PDE6B_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.26G>A r.(?) p.(Arg9Gln) Unknown - benign g.619441G>A g.625652G>A PDE6B(NM_000283.4):c.26G>A (p.R9Q) - PDE6B_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.44A>C r.(?) p.(Asn15Thr) Unknown - VUS g.619459A>C g.625670A>C c.44A>C, p.Asn15Thr - PDE6B_000281 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2966_004551 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. 1 c.54del r.(?) p.(Phe18Leufs*10) Both (homozygous) - pathogenic (recessive) g.619469del - c.51delT:p.D17fs - PDE6B_000309 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+/. - c.120_121insGAGGA r.(?) p.(Pro41GlufsTer111) Unknown - pathogenic g.619535_619536insGAGGA g.625746_625747insGAGGA PDE6B(NM_000283.3):c.120_121insGAGGA (p.P41Efs*111) - PDE6B_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.121_125delins(15) r.(?) p.? Both (homozygous) - likely pathogenic g.619536_619540delinsN[15] g.625747_625751delinsN[15] - - PDE6B_000242 - PubMed: Coppieters 2014 - - Germline - - - - - DNA SEQ - WES retinal disease Fam18 PubMed: Coppieters 2014 see paper - - Morocco - - - - - 1 LOVD
+/. - c.122C>G r.(?) p.(Pro41Arg) Unknown - pathogenic g.619537C>G g.625748C>G PDE6B(NM_000283.3):c.122C>G (p.P41R) - PDE6B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.125_126insTGCGA r.(?) p.(Asp43AlafsTer109) Unknown - pathogenic g.619540_619541insTGCGA g.625751_625752insTGCGA PDE6B(NM_000283.3):c.125_126insTGCGA (p.D43Afs*109) - PDE6B_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.132C>A r.(?) p.(Cys44*) Paternal (confirmed) ACMG pathogenic g.619547C>A g.625758C>A PDE6B c.132C>A, p.(Cys44*) - PDE6B_000323 heterozygous, father heterozygous c.132C>A, p.(Cys44*) mother heterozygous c.1614G>C, p.(Glu538Asp) PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC053 51 PubMed: Khateb 2019 Family F2712 - - - - - - - - 1 LOVD
-/. - c.132C>G r.(?) p.(Cys44Trp) Unknown - benign g.619547C>G g.625758C>G PDE6B(NM_000283.4):c.132C>G (p.C44W) - PDE6B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.133G>A r.(?) p.(Asp45Asn) Unknown - benign g.619548G>A g.625759G>A - - PDE6B_000074 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs138423108 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-/. - c.145G>T r.(?) p.(Asp49Tyr) Unknown - benign g.619560G>T g.625771G>T - - PDE6B_000075 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs79826315 Germline - 47/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 47 Yoshito Koyanagi
-/. - c.145G>T r.(?) p.(Asp49Tyr) Both (homozygous) - benign g.619560G>T g.625771G>T - - PDE6B_000075 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs79826315 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
-?/. - c.145G>T r.(?) p.(Asp49Tyr) Parent #1 - likely benign g.619560G>T g.625771G>T - - PDE6B_000075 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79826315 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
?/. - c.145G>T r.(?) p.(Asp49Tyr) Unknown - VUS g.619560G>T g.625771G>T - - PDE6B_000075 - PubMed: Wang 2014 - rs79826315 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 36 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+/. - c.167_171delGCACG r.(?) p.(Thr57Alafs*107) Unknown ACMG pathogenic g.619584_619588del g.625795_625799del PDE6B NM_000283: g.210_214delGCACG, c.167_171delGCACG, p.T57Afs107 - PDE6B_000235 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19994 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+?/. - c.169_173del r.(?) p.(Thr57AlafsTer107) Parent #2 - likely pathogenic g.619584_619588del g.625795_625799del 167_171del5bp - PDE6B_000235 - - - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease S7-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+/. - c.173C>T r.(?) p.(Ala58Val) Parent #1 - pathogenic g.619588C>T g.625799C>T - - PDE6B_000217 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease 3H5+K.42 PubMed: Ge 2015 2-generation family, affected mother/4 children (3F, 2M) F;M - United States - - - - - 5 LOVD
+?/. - c.173C>T r.(?) p.(Ala58Val) Maternal (confirmed) - likely pathogenic g.619588C>T g.625799C>T c.2401C-->T, c.173C-->T; p.Gln801,* p.Ala58Val - PDE6B_000217 confirmed with Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline yes - - - - DNA SEQ-NG blood - RP40 261 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.173C>T r.(?) p.(Ala58Val) Unknown ACMG VUS g.619588C>T g.625799C>T - - PDE6B_000217 ACMG PM2, BP4; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? UD-106 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.177_248dup r.(?) p.(Leu60_Leu83dup) Parent #1 - likely pathogenic g.619592_619663dup g.625803_625874dup PDE6B, variant 1: c.177_248dup/p.L83Cfs*19, variant 2: c.1401+2T>G/p.? - PDE6B_000289 error in annotation, this variant causes an in-frame and not frameshift duplicatio - protein change should be p.(Leu60_Leu83dup) and not p.(Leu83Cysfs*19), solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 702 PubMed: Weisschuh 2020 Filing key number: 260, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.177_248dup r.(?) p.(Leu60_Leu83dup) Parent #1 - likely pathogenic g.619592_619663dup g.625803_625874dup PDE6B, variant 1: c.177_248dup/p.L83Cfs*19, variant 2: c.1401+2T>G/p.? - PDE6B_000289 error in annotation, this variant causes an in-frame and not frameshift duplicatio - protein change should be p.(Leu60_Leu83dup) and not p.(Leu83Cysfs*19), solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 703 PubMed: Weisschuh 2020 Filing key number: 260, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.177_248dup r.(?) p.(Leu60_Leu83dup) Parent #1 ACMG pathogenic (recessive) g.619592_619663dup g.625803_625874dup Variant 1: c.177_248dup;p.(L60_L83dup), Variant 2: c.1401+2T>G;p.(?) - PDE6B_000289 - PubMed: Kuehlewein 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease ARRP260-25421 PubMed: Kuehlewein 2021 sibling of ARRP260-25423 M - - - - - - - 1 LOVD
+?/. - c.177_248dup r.(?) p.(Leu60_Leu83dup) Parent #1 ACMG pathogenic (recessive) g.619592_619663dup g.625803_625874dup Variant 1: c.177_248dup;p.(L60_L83dup), Variant 2: c.1401+2T>G;p.(?) - PDE6B_000289 - PubMed: Kuehlewein 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease ARRP260-25423 PubMed: Kuehlewein 2021 sibling of ARRP260-25421 M - - - - - - - 1 LOVD
+/. 1 c.181G>T r.(?) p.(Glu61*) Unknown ACMG pathogenic g.619596G>T g.625807G>T PDE6B c.181G>T, p.(Glu61*) - PDE6B_000324 heterozygous PubMed: Khateb 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC001 95 PubMed: Khateb 2019 Family F144 - - - - - - - - 1 LOVD
+?/. - c.207dup r.(?) p.(Ile70Hisfs*96) Both (homozygous) ACMG likely pathogenic g.619622dup g.625833dup PDE6B c.207dup, p.(Ile70Hisfs*96), c.207dup, p.(Ile70Hisfs*96) - PDE6B_000263 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 172 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.220C>T r.(?) p.(Arg74Cys) Unknown - VUS g.619635C>T g.625846C>T - - PDE6B_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.220C>T r.(?) p.(Arg74Cys) Unknown ACMG pathogenic g.619635C>T g.625846C>T NM_000283.3:c.220C>T, NP_000274.2:p.(Arg74Cys), NC_000004.11:g.619635C>T - PDE6B_000121 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016060108 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 1 c.220C>T r.(?) p.(Arg74Cys) Unknown ACMG pathogenic g.619635C>T g.625846C>T NM_000283.3:c.220C>T, NP_000274.2:p.(Arg74Cys), NC_000004.11:g.619635C>T - PDE6B_000121 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016121902 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. - c.221dup r.(?) p.(Val75Argfs*91) Unknown ACMG likely pathogenic g.619636dup g.625847dup Variant 1: c.221dup;p.(V75Rfs*91), Variant 2: c.892C>T;p.(Q298*) - PDE6B_000315 - PubMed: Kuehlewein 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ - - retinal disease SRP754-21728 PubMed: Kuehlewein 2021 - M - - - - - - - 1 LOVD
?/. - c.221G>T r.(?) p.(Arg74Leu) Unknown - VUS g.619636G>T g.625847G>T - - PDE6B_000076 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.221G>T r.(?) p.(Arg74Leu) Unknown - VUS g.619636G>T g.625847G>T - - PDE6B_000076 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ - - CORD 31 PubMed: Wang 2014b - F - United States - - - - - 1 Isabelle Audo
+?/. 1 c.243del r.(?) p.(Arg82Alafs*68) Both (homozygous) ACMG likely pathogenic g.619658del g.625869del c.243delG, p.Arg82Alafs*68 - PDE6B_000264 Homozygous PubMed: Birtel 2018 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease 24 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
?/. - c.245G>A r.(?) p.(Arg82His) Unknown - VUS g.619660G>A g.625871G>A PDE6B(NM_000283.3):c.245G>A (p.R82H) - PDE6B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245G>A r.(?) p.(Arg82His) Unknown - VUS g.619660G>A g.625871G>A - - PDE6B_000029 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs757048461 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.262C>T r.(?) p.(Gln88Ter) Unknown ACMG VUS g.619677C>T g.625888C>T PDE6B c.C262T, p.Q88X - PDE6B_000296 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 172 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. - c.263A>G r.(?) p.(Gln88Arg) Unknown - likely pathogenic g.619678A>G g.625889A>G - - PDE6B_000200 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat112 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
-/. - c.270C>T r.(?) p.(Asp90=) Unknown - benign g.619685C>T g.625896C>T PDE6B(NM_000283.3):c.270C>T (p.D90=), PDE6B(NM_000283.4):c.270C>T (p.D90=) - PDE6B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.270C>T r.(?) p.(Asp90=) Unknown - benign g.619685C>T g.625896C>T PDE6B(NM_000283.3):c.270C>T (p.D90=), PDE6B(NM_000283.4):c.270C>T (p.D90=) - PDE6B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.291C>A r.(?) p.(Tyr97*) Unknown - VUS g.619706C>A g.625917C>A - - PDE6B_000212 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12007088 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.292C>T r.(?) p.(Arg98Cys) Unknown - pathogenic g.619707C>T g.625918C>T - - PDE6B_000218 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease 59H+2.32 PubMed: Ge 2015 family - - United States - - - - - 1 LOVD
+?/. - c.293G>A r.(?) p.(Arg98His) Unknown ACMG likely pathogenic g.619708G>A g.625919G>A PDE6B c.293G>A, p.(Arg98His) - PDE6B_000265 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 173 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.293G>A r.(?) p.(Arg98His) Unknown - VUS g.619708G>A - PDE6B(NM_000283.4):c.293G>A (p.(Arg98His)) - PDE6B_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.293G>C r.(?) p.(Arg98Pro) Unknown - likely pathogenic g.619708G>C g.625919G>C PDE6B(NM_000283.4):c.293G>C (p.R98P) - PDE6B_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.293G>C r.(?) p.(Arg98Pro) Both (homozygous) ACMG likely pathogenic g.619708G>C g.625919G>C c.293G>C, p.Arg98Pro - PDE6B_000122 Homozygous PubMed: Birtel 2018 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease 22 PubMed: Birtel 2018 - M - Germany - - - - - 1 LOVD
+/. 1 c.293G>C r.(?) p.(Arg98Pro) Unknown ACMG pathogenic g.619708G>C g.625919G>C PDE6B c.293G>C, p.(Arg98Pro) - PDE6B_000122 heterozygous PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC037 81 PubMed: Khateb 2019 Family F1709, index - - - - - - - - 1 LOVD
+/. 1 c.293G>C r.(?) p.(Arg98Pro) Unknown ACMG pathogenic g.619708G>C g.625919G>C PDE6B c.293G>C, p.(Arg98Pro) - PDE6B_000122 heterozygous PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC040 06 PubMed: Khateb 2019 Family F1709, brother M - - - - - - - 1 LOVD
+/. 1 c.293G>C r.(?) p.(Arg98Pro) Unknown ACMG pathogenic g.619708G>C g.625919G>C PDE6B c.293G>C, p.(Arg98Pro) - PDE6B_000122 heterozygous PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC050 60 PubMed: Khateb 2019 Family F1709, sister F - - - - - - - 1 LOVD
?/. - c.298C>T r.(?) p.(Arg100Cys) Unknown - VUS g.619713C>T g.625924C>T PDE6B(NM_000283.3):c.298C>T (p.R100C) - PDE6B_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.298C>T r.(?) p.(Arg100Cys) Both (homozygous) - pathogenic g.619713C>T g.625924C>T c.298C>T , R100C - PDE6B_000123 Homozygous PubMed: Chakrabarty 2020 - - Germline yes - - - - DNA SEQ-NG-IT, SEQ blood whole exome sequencing retinal disease II:1 PubMed: Chakrabarty 2020 - M - India - - - - - 1 LOVD
+?/. - c.298C>T r.(?) p.(Arg100Cys) Both (homozygous) - pathogenic g.619713C>T g.625924C>T c.298C>T , R100C - PDE6B_000123 Homozygous PubMed: Chakrabarty 2020 - - Germline yes - - - - DNA SEQ-NG-IT, SEQ blood whole exome sequencing retinal disease II:2 PubMed: Chakrabarty 2020 - M - India - - - - - 1 LOVD
+/. 1 c.299G>A r.(?) p.(Arg100His) Parent #1 - pathogenic g.619714G>A g.625925G>A - - PDE6B_000010 - PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+?/. - c.299G>A r.(?) p.(Arg100His) Unknown - likely pathogenic g.619714G>A g.625925G>A - - PDE6B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.299G>A r.(?) p.(Arg100His) Parent #2 - pathogenic g.619714G>A g.625925G>A - - PDE6B_000010 - PubMed: Comander 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat5 PubMed: Comander 2017 proband M - United States - - - - - 1 Johan den Dunnen
+?/. - c.299G>A r.(?) p.(Arg100His) Both (homozygous) - likely pathogenic g.619714G>A g.625925G>A - - PDE6B_000010 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/22 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
+/. - c.299G>A r.(?) p.(Arg100His) Parent #2 - pathogenic g.619714G>A g.625925G>A - - PDE6B_000010 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease 3U3+6.63 PubMed: Ge 2015 simplex case - - United States - - - - - 1 LOVD
+/. - c.299G>A r.(?) p.(Arg100His) Parent #2 - pathogenic g.619714G>A g.625925G>A - - PDE6B_000010 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp182 PubMed: Zhao 2015 simplex case - - Northern Ireland - - - - - 1 LOVD
+/. 1 c.299G>A r.(?) p.(Arg100His) Both (homozygous) ACMG pathogenic g.619714G>A g.625925G>A c.299G>A, p.Arg100His - PDE6B_000010 Homozygous PubMed: Birtel 2018 - rs555600300 Germline ? - - - - DNA SEQ blood - retinal disease 23 PubMed: Birtel 2018 - M - Germany - - - - - 1 LOVD
+?/. - c.299G>A r.(?) p.(Arg100His) Parent #1 - likely pathogenic g.619714G>A g.625925G>A PDE6B, variant 1: c.299G>A/p.R100H, variant 2: c.299G>A/p.R100H - PDE6B_000010 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 578 PubMed: Weisschuh 2020 Filing key number: 209, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.299G>A r.(?) p.(Arg100His) Parent #1 - likely pathogenic g.619714G>A g.625925G>A PDE6B, variant 1: c.299G>A/p.R100H, variant 2: c.299G>A/p.R100H - PDE6B_000010 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 646 PubMed: Weisschuh 2020 Filing key number: 232, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.299G>A r.(?) p.(Arg100His) Both (homozygous) ACMG VUS g.619714G>A g.625925G>A Variant 1: c.[299G>A;1401+4_1401+48del];p.[(R100H);(?)], Variant 2: c.[299G>A;1401+4_1401+48del];p.[(R100H);(?)] - PDE6B_000010 - PubMed: Kuehlewein 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ - - retinal disease ARRP209-23862 PubMed: Kuehlewein 2021 sibling of ARRP209-22048 F - - - - - - - 1 LOVD
+?/. - c.299G>A r.(?) p.(Arg100His) Both (homozygous) ACMG VUS g.619714G>A g.625925G>A Variant 1: c.[299G>A;1401+4_1401+48del];p.[(R100H);(?)], Variant 2: c.[299G>A;1401+4_1401+48del];p.[(R100H);(?)] - PDE6B_000010 - PubMed: Kuehlewein 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ - - retinal disease ARRP209-22048 PubMed: Kuehlewein 2021 sibling of ARRP209-23862 M - - - - - - - 1 LOVD
+?/. 1 c.299G>A r.(?) p.(Arg100His) Both (homozygous) ACMG likely pathogenic g.619714G>A g.625925G>A PDE6B c.299G>A, p.(Arg100His) - PDE6B_000010 homozygous; mother - het c.1927_1969delinsG G, p.(Asn643Glyfs*29) PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC013 18 PubMed: Khateb 2019 Family F798 - - - - - - - - 1 LOVD
?/. - c.307G>A r.(?) p.(Val103Met) Unknown - VUS g.619722G>A g.625933G>A - - PDE6B_000077 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs751477149 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. - c.313G>A r.(?) p.(Glu105Lys) Parent #2 - pathogenic g.619728G>A g.625939G>A - - PDE6B_000191 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat12 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
+/. - c.313G>A r.(?) p.(Glu105Lys) Parent #1 - pathogenic (recessive) g.619728G>A g.625939G>A - - PDE6B_000191 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP397 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
?/. - c.313G>A r.(?) p.(Glu105Lys) Both (homozygous) ACMG VUS g.619728G>A g.625939G>A PDE6B c.313G>A, p.(Glu105Lys), c.313G>A, p.(Glu105Lys) - PDE6B_000191 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 435 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.313G>A r.(?) p.(Glu105Lys) Unknown - likely pathogenic g.619728G>A g.625939G>A c.313G>A, p.Glu105Lys - PDE6B_000191 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18081694_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. - c.313G>A r.(?) p.(Glu105Lys) Unknown - likely pathogenic g.619728G>A g.625939G>A c.313G>A, p.Glu105Lys - PDE6B_000191 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18081696_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. 1 c.313G>A r.(?) p.(Glu105Lys) Both (homozygous) - likely pathogenic (recessive) g.619728G>A - c.313G>A - PDE6B_000191 - PubMed: Colombo-2020 - rs398123299 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F yes - - - - - - 1 LOVD
+?/. 1 c.313G>A r.(?) p.(Glu105Lys) Parent #1 ACMG likely pathogenic g.619728G>A g.625939G>A PDE6B c.313G>A, p.(Glu105Lys) - PDE6B_000191 heterozygous PubMed: Khateb 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC087 95 PubMed: Khateb 2019 Family F4999 - - - - - - - - 1 LOVD
?/. - c.339_353del r.(?) p.(Gln114_Val118del) Both (homozygous) - VUS g.619754_619768del g.625965_625979del - - PDE6B_000336 - PubMed: Ben Yosef 2023 - - Germline - - - - - DNA SEQ-NG - MIPs RP40 Fam15 PubMed: Sharon 2020, PubMed: Ben Yosef 2023 family, 1 affected F - Israel Ethiopia;Jew - - - - 1 Tamar Ben-Yosef
+?/. - c.339_353del r.(?) p.(Gln114_Val118del) Both (homozygous) - VUS g.619754_619768del g.625965_625979del - - PDE6B_000336 - PubMed: Ben Yosef 2023 - - Germline - - - - - DNA SEQ-NG - WES RP40 Fam16 PubMed: Ben Yosef 2023 family, 1 affected M yes Israel Ethiopia;Jew - - - - 1 Tamar Ben-Yosef
?/. - c.362A>G r.(?) p.(Asp121Gly) Unknown - VUS g.619777A>G g.625988A>G PDE6B(NM_000283.4):c.362A>G (p.D121G) - PDE6B_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.379G>A r.(?) p.(Asp127Asn) Unknown - VUS g.619794G>A g.626005G>A - - PDE6B_000078 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs766141814 Germline - 4/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
+?/. - c.385G>A r.(?) p.(Glu129Lys) Both (homozygous) - likely pathogenic g.619800G>A g.626011G>A - - PDE6B_000201 - PubMed: Bravo-Gil 2017 - - Germline yes - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat23 PubMed: Bravo-Gil 2017 family - - Spain - - - - - 1 Nereida Bravo Gil
+?/. 1 c.385G>A r.(?) p.(Glu129Lys) Unknown ACMG likely pathogenic g.619800G>A g.626011G>A NM_000283.3:c.385G>A, NP_000274.2:p.(Glu129Lys), NC_000004.11:g.619800G>A - PDE6B_000201 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101001 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
?/. - c.385G>A r.(?) p.(Glu129Lys) Unknown ACMG VUS g.619800G>A g.626011G>A PDE6B c.385G>A, p.(Glu129Lys), c.2193+1G>A, p.(?) - PDE6B_000201 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 174 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.385G>A r.(?) p.(Glu129Lys) Unknown ACMG likely pathogenic g.619800G>A g.626011G>A PDE6B NM_000283: g.428G>A, c.385G>A, p.E129K - PDE6B_000201 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19994 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
?/. - c.385G>A r.(?) p.(Glu129Lys) Unknown ACMG VUS g.619800G>A g.626011G>A PDE6B:NM_000283 c.G385A, p.E129K - PDE6B_000201 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RP-44 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+?/. 1 c.385G>A r.(?) p.(Glu129Lys) Unknown - likely pathogenic (recessive) g.619800G>A - c.385G>A - PDE6B_000201 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 1 c.385G>A r.(?) p.(Glu129Lys) Unknown - likely pathogenic (recessive) g.619800G>A - c.385G>A - PDE6B_000201 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. - c.385G>A r.(?) p.(Glu129Lys) Unknown ACMG likely pathogenic g.619800G>A g.626011G>A PDE6B c.385G>A(;)1133G>A, V2: c.385G>A, (p.Glu129Lys) - PDE6B_000201 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F248 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.385G>A r.(?) p.(Glu129Lys) Unknown - likely pathogenic g.619800G>A g.626011G>A PDE6B c.385G>A(;)1133G>A; p.(Glu129Lys) - PDE6B_000201 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.0000143 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F248 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
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