Full data view for gene POC1B

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_172240.2 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
Legend   How to query  

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.? r.? p.? Both (homozygous) - likely pathogenic (recessive) g.? - T246M - ALX1_000001 variant not possible PubMed: Gu 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES PKD family PubMed: Gu 2016 2-generation family - - China - - 0 - - 1 Johan den Dunnen
-?/. - c.10G>A r.(?) p.(Ala4Thr) Unknown - likely benign g.89919663C>T g.89525886C>T POC1B(NM_172240.2):c.10G>A (p.A4T) - GALNT4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.94C>T r.(?) p.(Gln32Ter) Unknown - pathogenic g.89918903G>A g.89525126G>A - - POC1B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.94C>T r.(?) p.(Gln32*) Parent #1 - likely pathogenic g.89918903G>A g.89525126G>A - - POC1B_000014 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - DNA SEQ-NG - WES ? 3806 PubMed: Haer-Wigman 2017 patient - no Netherlands - - 0 - - 1 LOVD
-/. - c.100+1379T>C r.(=) p.(=) Unknown - benign g.89917518A>G g.89523741A>G POC1B(NM_172240.3):c.100+1379T>C - GALNT4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+2086G>A r.(=) p.(=) Unknown - benign g.89916811C>T g.89523034C>T POC1B(NM_172240.3):c.100+2086G>A - GALNT4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.101-3T>C r.spl? p.? Unknown - likely benign g.89891122A>G g.89497345A>G POC1B(NM_172240.2):c.101-3T>C - POC1B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i c.101-3T>G r.spl p.(?) Unknown - pathogenic g.89891122A>C g.89497345A>C c.101-3T>G - POC1B_000029 2 nt insertion in RNA resulting in exon2 skipping PubMed: Toulis 2020 - - Germline yes - - 0 - DNA SEQ-NG blood, saliva, hair, biopsy target gene panels or whole exome sequencing (WES) retinal disease 4.1 PubMed: Toulis 2020 proband M - Spain - - 0 - - 1 LOVD
+/. 2i c.101-3T>G r.spl p.(?) Unknown - pathogenic g.89891122A>C g.89497345A>C c.101-3T>G - POC1B_000029 2 nt insertion in RNA resulting in exon2 skipping PubMed: Toulis 2020 - - Germline yes - - 0 - DNA SEQ-NG blood target gene panels or whole exome sequencing (WES) retinal disease 4.2 PubMed: Toulis 2020 Affected brother of 4.1 M - Spain - - 0 - - 1 LOVD
-/. - c.168T>C r.(?) p.(Tyr56=) Unknown - benign g.89891052A>G g.89497275A>G POC1B(NM_172240.2):c.168T>C (p.Y56=) - POC1B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.168T>G r.(?) p.(Tyr56*) Both (homozygous) ACMG likely pathogenic (recessive) g.89891052A>C - - - POC1B_000025 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I - - CORD20 178457 - - M yes ? (unknown) - - 0 - - 1 Andreas Laner
?/. - c.179A>G r.(?) p.(Lys60Arg) Unknown - VUS g.89891041T>C g.89497264T>C - - POC1B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.199_201del r.(?) p.Gln67del Paternal (confirmed) - pathogenic (recessive) g.89891020_89891022del g.89497243_89497245del - - POC1B_000012 - PubMed: Roosing 2014, Journal: Roosing 2014 - - Germline ? - - 0 - DNA SEQ Blood WES CORD FamBPatII1 PubMed: Roosing 2014, Journal: Roosing 2014 2-generation family, 1 affected child (M), unaffected heterozygous carrier parents M ? Netherlands - >60y 0 - treated for hypertension 1 Jens Doets
+?/? 4 c.317G>C r.(?) p.(Arg106Pro) Both (homozygous) - likely pathogenic g.89885848C>G g.89492071C>G - - POC1B_000001 - - - rs76216585 Germline yes - - 0 - DNA SEQ-NG-I peripheral blood - JBTS1 - - - M yes Iraq - - 0 - - 1 Hanno Bolz
+?/. - c.317G>C r.(?) p.(Arg106Pro) Unknown - likely pathogenic g.89885848C>G g.89492071C>G - - POC1B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.317G>C r.(?) p.(Arg106Pro) Both (homozygous) - pathogenic (recessive) g.89885848C>G g. 89492071C>G g.89492071C>G - POC1B_000001 not in 113 control individuals PubMed: Durlu 2014 - - Germline yes - - 0 - DNA SEQ Blood - CORD20 FamPat305 PubMed: Durlu 2014 4-generation family, 4 affected (3F, M) F yes Turkey - >61y 0 - - 4 Najlae Akhiyate
+/. - c.317G>C r.(?) p.(Arg106Pro) Both (homozygous) - pathogenic (recessive) g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Roosing 2014, Journal: Roosing 2014 - - Germline yes - - 0 - DNA SEQ blood WES CORD FamAPatII1 PubMed: Roosing 2014, Journal: Roosing 2014 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents F no Turkey - >16y 0 - - 3 Jens Doets
+/. - c.317G>C r.(?) p.(Arg106Pro) Both (homozygous) - pathogenic (recessive) g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Roosing 2014, Journal: Roosing 2014 - - Germline yes - - 0 - DNA SEQ blood WES CORD FamAPatII3 PubMed: Roosing 2014, Journal: Roosing 2014 sister F no Turkey - - 0 - - 1 Jens Doets
+/. - c.317G>C r.(?) p.(Arg106Pro) Both (homozygous) - pathogenic (recessive) g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Roosing 2014, Journal: Roosing 2014 - - Germline yes - - 0 - DNA SEQ blood WES CORD FamAPatII4 PubMed: Roosing 2014, Journal: Roosing 2014 brother M no Turkey - >09y 0 - - 1 Jens Doets
+?/. - c.317G>C r.(?) p.(Arg106Pro) Unknown - likely pathogenic (recessive) g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Beck 2014 - - Germline yes - - 0 - DNA SEQ-NG - WES retinal disease family PubMed: Beck 2014 2-generation family, 5 affected (2F, 3M) F;M yes Iraq - - 0 - - 5 Johan den Dunnen
?/. - c.317G>C r.(?) p.(Arg106Pro) Both (homozygous) - VUS g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Beck 2014 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease family PubMed: Beck 2014 2-generation family, 5 affected (2F, 3M) F;M yes Iraq - - 0 - - 5 Johan den Dunnen
+/. 4 c.317G>C r.(?) p.(Arg106Pro) Both (homozygous) - pathogenic (recessive) g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Birtel 2018 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease Pat120 PubMed: Birtel 2018 family F - Germany - - 0 - - 1 LOVD
+?/. 4 c.317G>C r.(?) p.(Arg106Pro) Unknown - likely pathogenic g.89885848C>G g.89492071C>G POC1B c.317G>C, p.Arg106Pro - POC1B_000001 heterozygous PubMed: Gliem 2020 - - Unknown ? - - 0 - DNA SEQ-NG-I blood whole exome sequencing retinal disease 141 PubMed: Gliem 2020 - F - (Germany) - - 0 - - 1 LOVD
+?/. - c.323T>C r.(?) p.(Val108Ala) Unknown - likely pathogenic g.89885842A>G g.89492065A>G - - POC1B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.323T>C r.(?) p.(Val108Ala) Both (homozygous) - likely pathogenic g.89885842A>G g.89492065A>G - - POC1B_000011 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - DNA SEQ-NG - WES ? 4252 PubMed: Haer-Wigman 2017 patient - yes Netherlands - - 0 - - 1 LOVD
+/. - c.337G>C r.(?) p.(Asp113His) Maternal (confirmed) - pathogenic (recessive) g.89885828C>G - - - POC1B_000023 - PubMed: Kameya 2019 - - Germline yes - - 0 - DNA SEQ - - retinal disease Fam1 PubMed: Kameya 2019 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Japan - - 0 - - 2 LOVD
+/. - c.356C>T r.(?) p.(Thr119Ile) Paternal (confirmed) - pathogenic (recessive) g.89885809G>A g.89492032G>A - - POC1B_000022 - PubMed: Kameya 2019 - - Germline yes - - 0 - DNA SEQ - - retinal disease Fam1 PubMed: Kameya 2019 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Japan - - 0 - - 2 LOVD
+/. - c.356C>T r.(?) p.(Thr119Ile) Paternal (confirmed) - pathogenic (recessive) g.89885809G>A g.89492032G>A - - POC1B_000022 - PubMed: Kameya 2019 - - Germline yes - - 0 - DNA SEQ - - retinal disease Fam2 PubMed: Kameya 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Japan - - 0 - - 2 LOVD
+/. - c.356C>T r.(?) p.(Thr119Ile) Both (homozygous) - pathogenic (recessive) g.89885809G>A g.89492032G>A - - POC1B_000022 - PubMed: Kameya 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam4 PubMed: Kameya 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - 0 - - 1 LOVD
+/. - c.356C>T r.(?) p.(Thr119Ile) Both (homozygous) - pathogenic (recessive) g.89885809G>A g.89492032G>A - - POC1B_000022 - PubMed: Kameya 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam5 PubMed: Kameya 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents F - Japan - - 0 - - 2 LOVD
+/. - c.356C>T r.(?) p.(Thr119Ile) Paternal (confirmed) - pathogenic (recessive) g.89885809G>A g.89492032G>A - - POC1B_000022 - PubMed: Kameya 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam6 PubMed: Kameya 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - 1 LOVD
+/. - c.356C>T r.(?) p.(Thr119Ile) Both (homozygous) - pathogenic (recessive) g.89885809G>A g.89492032G>A - - POC1B_000022 - PubMed: Kameya 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam7 PubMed: Kameya 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - 1 LOVD
?/. - c.356C>T r.(?) p.(Thr119Ile) Unknown ACMG VUS g.89885809G>A g.89492032G>A POC1B c.C356T, p.T119I - POC1B_000022 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - 0 - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 145 PubMed: Ma 2021 - ? - Korea - - 0 - - 1 LOVD
?/. - c.404G>A r.(?) p.(Arg135His) Unknown - VUS g.89885761C>T g.89491984C>T POC1B(NM_172240.2):c.404G>A (p.R135H) - GALNT4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.453-12_453-3del r.spl? p.? Unknown - benign g.89866065_89866074del g.89472288_89472297del POC1B(NM_172240.3):c.453-12_453-3delTCTTCTTTCT - GALNT4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.560+2T>G r.spl p.(?) Parent #1 - likely pathogenic g.89865943A>C g.89472166A>C POC1B, variant 1: c.560+2T>G/p.?, variant 2: c.560+2T>G/p.? - POC1B_000030 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1120 PubMed: Weisschuh 2020 Filing key number: 764, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
?/. - c.561-3T>C r.spl? p.? Unknown - VUS g.89865509A>G g.89471732A>G - - POC1B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.561-3T>C r.spl? p.? Parent #2 - likely pathogenic g.89865509A>G g.89471732A>G - - POC1B_000010 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - DNA SEQ-NG - WES ? 3806 PubMed: Haer-Wigman 2017 patient - no Netherlands - - 0 - - 1 LOVD
?/. - c.619G>C r.(?) p.(Asp207His) Unknown - VUS g.89865448C>G g.89471671C>G - - POC1B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.673C>G r.(?) p.(Gln225Glu) Unknown - VUS g.89865394G>C g.89471617G>C POC1B(NM_172240.2):c.673C>G (p.Q225E) - GALNT4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.710A>G r.(?) p.(His237Arg) Paternal (confirmed) - pathogenic (recessive) g.89864238T>C g.89470461T>C - - POC1B_000020 - PubMed: Jin 2018, Journal: Jin 2018 - - Germline ? - - 0 - DNA SEQ, SEQ-NG Blood - COD Fam1PatII1 PubMed: Jin 2018, PubMed: Jin 2018 3 generation family, 1 affected (F), unaffected heterozygous carrier parents F ? China - >26y 0 - - 1 Jens Doets
-/. - c.763C>T r.(?) p.(Leu255=) Unknown - benign g.89864185G>A g.89470408G>A POC1B(NM_172240.2):c.763C>T (p.L255=) - POC1B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.786C>T r.(?) p.(Leu262=) Unknown - benign g.89864162G>A g.89470385G>A POC1B(NM_172240.2):c.786C>T (p.L262=) - POC1B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.808dup r.(?) p.(Thr270AsnfsTer31) Unknown - likely pathogenic g.89864140dup - POC1B(NM_172240.2):c.808dupA (p.T270Nfs*31) - GALNT4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.810+1G>T r.spl? p.? Unknown - pathogenic g.89864137C>A g.89470360C>A POC1B(NM_172240.2):c.810+1G>T - POC1B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.810+1G>T r.spl? p.? Unknown - pathogenic g.89864137C>A g.89470360C>A POC1B(NM_172240.2):c.810+1G>T - POC1B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7i c.810+1G>T r.[677_810del,561_810del] p.[Val666fs,Phe188fs] Maternal (confirmed) - pathogenic (recessive) g.89864137C>A g.89470360C>A - - POC1B_000004 - PubMed: Roosing 2014, Journal: Roosing 2014 - - Germline - - - 0 - DNA SEQ Blood WES CORD FamBPatII1 PubMed: Roosing 2014, Journal: Roosing 2014 2-generation family, 1 affected child (M), unaffected heterozygous carrier parents M ? Netherlands - >60y 0 - treated for hypertension 1 Jens Doets
+/. - c.810+1G>T r.spl? p.? Both (homozygous) - pathogenic g.89864137C>A g.89470360C>A - - POC1B_000004 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - DNA SEQ-NG - WES ? 1061 PubMed: Haer-Wigman 2017 patient - no Netherlands - - 0 - - 1 LOVD
-?/. - c.879+11C>G r.(=) p.(=) Unknown - likely benign g.89861383G>C - POC1B(NM_172240.2):c.879+11C>G - GALNT4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.880G>T r.(?) p.(Val294Phe) Unknown ACMG VUS g.89860699C>A - - - POC1B_000027 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CORD IR_GH_0181 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.927del r.(?) p.(Thr310ProfsTer34) Unknown - pathogenic g.89860653del g.89466876del - - POC1B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.987C>A r.(?) p.(Tyr329*) Maternal (confirmed) - pathogenic (recessive) g.89860592G>T g.89466815G>T C987A - POC1B_000021 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG Blood WES COD patient PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 2-generation family, 1 affected, unaffected parents M no Japan - >20y 0 - - 1 Najlae Akhiyate
+/. - c.987C>A r.(?) p.(Tyr329*) Maternal (confirmed) - pathogenic (recessive) g.89860592G>T - C987A - POC1B_000021 - PubMed: Kominami 2017, PubMed: Kominami 2017 - - Germline - - - 0 - DNA SEQ Blood - COD patient PubMed: Kominami 2017, PubMed: Kominami 2017 - M no Japan Japan >20y 0 - - 1 Jens Doets
+/. - c.987C>A r.(?) p.(Tyr329*) Maternal (confirmed) - pathogenic (recessive) g.89860592G>T - - - POC1B_000021 - PubMed: Kameya 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam3 PubMed: Kameya 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - 1 LOVD
+?/. - c.1033-327T>A r.(?) p.(?) Unknown - likely pathogenic g.89853822A>T - - - POC1B_000024 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
-?/. - c.1085T>C r.(?) p.(Met362Thr) Unknown - likely benign g.89853443A>G g.89459666A>G POC1B(NM_172240.2):c.1085T>C (p.M362T) - GALNT4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1113+7C>T r.(=) p.(=) Unknown - benign g.89853408G>A g.89459631G>A POC1B(NM_172240.3):c.1113+7C>T - GALNT4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1113+16_1113+17insG r.(=) p.(=) Unknown - benign g.89853398_89853399insC g.89459621_89459622insC POC1B(NM_172240.2):c.1113+16_1113+17insG - GALNT4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1198G>A r.(?) p.(Glu400Lys) Unknown - VUS g.89819072C>T g.89425295C>T POC1B(NM_172240.2):c.1198G>A (p.E400K) - GALNT4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1210A>G r.(?) p.(Thr404Ala) Unknown - likely benign g.89819060T>C g.89425283T>C POC1B(NM_172240.2):c.1210A>G (p.T404A) - GALNT4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1278C>T r.(?) p.(Leu426=) Unknown - likely benign g.89818992G>A - POC1B(NM_172240.2):c.1278C>T (p.L426=) - GALNT4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1331_1332dup r.(?) p.(Thr445Argfs*10) Both (homozygous) - pathogenic g.89818938_89818939dup g.89425161_89425162dup - - POC1B_000017 - - - - Germline - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
+/. 1i c.1332+5G>A r.spl p.(?) Unknown - pathogenic g.89818933C>T g.89425156C>T c.1332+5G>A - POC1B_000028 - PubMed: Toulis 2020 - - Germline yes - - 0 - DNA SEQ-NG blood, saliva, hair, biopsy target gene panels or whole exome sequencing (WES) retinal disease 4.1 PubMed: Toulis 2020 proband M - Spain - - 0 - - 1 LOVD
+/. 1i c.1332+5G>A r.spl p.(?) Unknown - pathogenic g.89818933C>T g.89425156C>T c.1332+5G>A - POC1B_000028 - PubMed: Toulis 2020 - - Germline yes - - 0 - DNA SEQ-NG blood target gene panels or whole exome sequencing (WES) retinal disease 4.2 PubMed: Toulis 2020 Affected brother of 4.1 M - Spain - - 0 - - 1 LOVD
+?/. - c.1336_1337del r.(?) p.(Val446Phefs*13) Unknown ACMG VUS g.89815031_89815032del g.89421254_89421255del - - POC1B_000026 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG-I - - CORD IR_GH_0181 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.1354C>T r.(?) p.(Arg452*) Maternal (confirmed) - pathogenic (recessive) g.89815013G>A g.89421236G>A - - POC1B_000019 - PubMed: Jin 2018, PubMed: Jin 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG Blood - COD Fam1PatII1 PubMed: Jin 2018, PubMed: Jin 2018 3 generation family, 1 affected (F), unaffected heterozygous carrier parents F ? China - >26y 0 - - 1 Jens Doets
?/. - c.1354C>T r.(?) p.(Arg452Ter) Unknown ACMG VUS g.89815013G>A g.89421236G>A POC1B c.C1354T, p.R452X - POC1B_000019 marked as possibly causative, single heterozygous change in a recessive gene, heterozygous PubMed: Ma 2021 - - Unknown ? - - 0 - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 132 PubMed: Ma 2021 - ? - Korea - - 0 - - 1 LOVD
+/. - c.1354C>T r.(?) p.(Arg452Ter) Unknown ACMG pathogenic g.89815013G>A g.89421236G>A POC1B c.C1354T, p.R452X - POC1B_000019 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - 0 - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 145 PubMed: Ma 2021 - ? - Korea - - 0 - - 1 LOVD
?/. - c.1355G>A r.(?) p.(Arg452Gln) Unknown - VUS g.89815012C>T g.89421235C>T - - POC1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 12 c.1355G>A r.(?) p.(Arg452Gln) Paternal (inferred) - likely pathogenic (recessive) g.89815012C>T g.89421235C>T G1335A - POC1B_000018 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - rs200082142 Germline - - - 0 - DNA SEQ, SEQ-NG Blood WES COD patient PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 2-generation family, 1 affected, unaffected parents M no Japan - >20y 0 - - 1 Najlae Akhiyate
+/. - c.1355G>A r.(?) p.(Arg452Gln) Paternal (inferred) - pathogenic (recessive) g.89815012C>T g.89421235C>T G1355A - POC1B_000007 - PubMed: Kominami 2017, PubMed: Kominami 2017 - - Germline - - - 0 - DNA SEQ Blood - COD patient PubMed: Kominami 2017, PubMed: Kominami 2017 - M no Japan Japan >20y 0 - - 1 Jens Doets
+/. - c.1355G>A r.(?) p.(Arg452Gln) Maternal (confirmed) - pathogenic (recessive) g.89815012C>T - - - POC1B_000007 - PubMed: Kameya 2019 - - Germline yes - - 0 - DNA SEQ - - retinal disease Fam2 PubMed: Kameya 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Japan - - 0 - - 2 LOVD
+/. - c.1355G>A r.(?) p.(Arg452Gln) Maternal (inferred) - pathogenic (recessive) g.89815012C>T - - - POC1B_000007 - PubMed: Kameya 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam3 PubMed: Kameya 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - 1 LOVD
+/. - c.1355G>A r.(?) p.(Arg452Gln) Maternal (confirmed) - pathogenic (recessive) g.89815012C>T - - - POC1B_000007 - PubMed: Kameya 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam6 PubMed: Kameya 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - 1 LOVD
-/. - c.1433G>A r.(?) p.(Ser478Asn) Unknown - benign g.89814934C>T g.89421157C>T POC1B(NM_172240.2):c.1433G>A (p.S478N) - POC1B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1433G>T r.(?) p.(Ser478Ile) Unknown - likely benign g.89814934C>A g.89421157C>A POC1B(NM_172240.2):c.1433G>T (p.S478I) - POC1B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend   How to query