Full data view for gene CNGB1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001297.4 transcript reference sequence.

766 entries on 8 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     
+/. 29 c.? r.(?) p.? Both (homozygous) - pathogenic g.57935293T>A - c.2939A>T - CNGB1_000298 - PubMed: Fuster-Garcia-2019 - - Unknown - - - - - DNA SEQ-NG blood WES retinal disease - PubMed: Fuster-Garcia-2019 - - - - Spanish - - - - 1 LOVD
+/. 29 c.? r.(?) p.? Both (homozygous) - pathogenic g.57935293T>A - c.2939A>T - CNGB1_000298 - PubMed: Fuster-Garcia-2019 - - Unknown - - - - - DNA SEQ-NG blood WES retinal disease - PubMed: Fuster-Garcia-2019 - - - - Spanish - - - - 1 LOVD
+?/. - c.1A>T r.(?) p.(Met1?) Unknown - likely pathogenic g.58001190T>A g.57967286T>A CNGB1(NM_001297.4):c.1A>T (p.M1?, p.(Met1?)) - CNGB1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>T r.(?) p.(Met1?) Unknown - pathogenic g.58001190T>A g.57967286T>A CNGB1(NM_001297.4):c.1A>T (p.M1?, p.(Met1?)) - CNGB1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>T r.(?) p.(Met1?) Unknown - VUS g.58001190T>A - CNGB1(NM_001297.4):c.1A>T (p.M1?, p.(Met1?)) - CNGB1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.46C>G r.(?) p.(Pro16Ala) Unknown - VUS g.58001145G>C g.57967241G>C - - CNGB1_000131 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs767982458 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
+/. 2 c.60del r.(?) p.(Met21Cysfs*75) Both (homozygous) - pathogenic g.58001131del - c.60del - CNGB1_000316 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
-?/. - c.90G>A r.(?) p.(Glu30=) Unknown - likely benign g.58001101C>T - CNGB1(NM_001297.5):c.90G>A (p.E30=) - CNGB1_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.105G>A r.(=) p.(=) Parent #1 - VUS g.58001086C>T g.57967182C>T - - CNGB1_000021 39 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61997250 Germline - 39/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 39 Mohammed Faruq
?/. - c.106G>A r.(?) p.(Glu36Lys) Unknown - VUS g.58001085C>T g.57967181C>T - - CNGB1_000130 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
-/. - c.123G>A r.(?) p.(Pro41=) Unknown - benign g.58001068C>T g.57967164C>T CNGB1(NM_001297.5):c.123G>A (p.P41=) - CNGB1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139G>A r.(?) p.(Glu47Lys) Unknown - VUS g.58001052C>T g.57967148C>T - - CNGB1_000129 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs78149232 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
?/. 2i c.159+5G>A r.spl? p.? Unknown ACMG VUS g.58001027C>T g.57967123C>T - - CNGB1_000288 ACMG PM2, PP3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.159+5G>A r.spl? p.? Parent #1 ACMG VUS g.58001027C>T g.57967123C>T - - CNGB1_000288 ACMG PM2, PP3 PubMed: Nassisi 2021 - - Germline - - - - - DNA SEQ - - retinal disease MRN:6822243 PubMed: Nassisi 2021 - - - - Hispanic;white - - - - 1 Johan den Dunnen
-/. - c.159+14C>T r.(=) p.(=) Unknown - benign g.58001018G>A g.57967114G>A CNGB1(NM_001297.5):c.159+14C>T - CNGB1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161C>G r.(?) p.(Pro54Arg) Unknown - VUS g.57998447G>C g.57964543G>C - - CNGB1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.165C>T r.(?) p.(Pro55=) Unknown - VUS g.57998443G>A g.57964539G>A - - CNGB1_000190 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat14 PubMed: Costa 2017 - M - Brazil - - - - - 1 LOVD
?/. - c.190G>T r.(?) p.(Val64Leu) Unknown - VUS g.57998418C>A g.57964514C>A - - CNGB1_000128 - 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
?/. 3i c.217+5G>A r.spl? p.? Parent #2 ACMG VUS g.57998386C>T g.57964482C>T - - CNGB1_000294 ACMG PM2, PP3 PubMed: Nassisi 2021 - - Germline - - - - - DNA SEQ - - retinal disease F4517 CIC08096 PubMed: Nassisi 2021 - - - - Europe - - - - 1 Johan den Dunnen
?/. 3i c.217+5G>A r.spl? p.(?) Parent #1 - VUS g.57998386C>T - c.217+5G>A - CNGB1_000294 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.217+5G>C r.spl? p.? Unknown - VUS g.57998386C>G g.57964482C>G - - CNGB1_000127 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236060 Germline - 5/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 5 Yoshito Koyanagi
?/. - c.217+5G>C r.spl? p.? Both (homozygous) - VUS g.57998386C>G g.57964482C>G - - CNGB1_000127 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236060 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.217+5G>C r.spl p.? Both (homozygous) - pathogenic g.57998386C>G g.57964482C>G - - CNGB1_000127 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6048 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+?/. - c.217+5G>C r.spl? p.? Unknown ACMG VUS g.57998386C>G - - - CNGB1_000127 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_SH_0058 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.217+5G>C r.spl? p.? Unknown ACMG VUS g.57998386C>G - - - CNGB1_000127 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0174 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
?/. 3i c.217+5G>C r.spl? p.? Unknown ACMG VUS g.57998386C>G g.57964482C>G - - CNGB1_000127 ACMG PM2, PP3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.217+5G>C r.spl? p.? Parent #1 ACMG VUS g.57998386C>G g.57964482C>G - - CNGB1_000127 ACMG PM2, PP3 PubMed: Nassisi 2021 - - Germline - - - - - DNA SEQ - - retinal disease TW8999826 PubMed: Nassisi 2021 2-generation family, 2 affected sibs - - - Asia - - - - 2 Johan den Dunnen
?/. 3i c.217+5G>C r.spl? p.? Parent #1 ACMG VUS g.57998386C>G g.57964482C>G - - CNGB1_000127 ACMG PM2, PP3 PubMed: Nassisi 2021 - - Germline - - - - - DNA SEQ - - retinal disease TW20024045 PubMed: Nassisi 2021 sib - - - Asia - - - - 1 Johan den Dunnen
-/. 3i c.217+46G>A r.(?) p.(=) Unknown - benign g.57998345C>T g.57964441C>T IVS3+46G>A - CNGB1_000010 - PubMed: Bareil 2001, Journal: Bareil 2001 - - Germline - - BsmI - - DNA SEQ - - RP - PubMed: Bareil 2001, Journal: Bareil 2001 controls and patients - - France - - - - - 1 Johan den Dunnen
+?/. - c.218-2A>G r.spl? p.? Unknown - likely pathogenic g.57998108T>C - - - CNGB1_000325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232G>A r.(?) p.(Ala78Thr) Unknown - VUS g.57998092C>T - CNGB1(NM_001297.4):c.232G>A (p.A78T) - CNGB1_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.256C>T r.(?) p.(Arg86Trp) Unknown - likely benign g.57998068G>A - - - CNGB1_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.257G>C r.(?) p.(Arg86Pro) Unknown - benign g.57998067C>G g.57964163C>G - - CNGB1_000126 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs8055343 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
+?/. 4 c.262C>T r.(?) p.(Gln88*) Unknown - likely pathogenic g.57998062G>A g.57964158G>A - - CNGB1_000002 - - - - Germline yes - - - - DNA SEQ-NG - - retinal disease - - - - - - - - - - - 1 Sarah Hull
+/. - c.262C>T r.(?) p.(Gln88*) Unknown - pathogenic (recessive) g.57998062G>A - 16:57998062G>A ENST00000251102.8:c.262C>T (Gln88Ter) - CNGB1_000002 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240068 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.262C>T r.(?) p.(Gln88*) Unknown - VUS g.57998062G>A g.57964158G>A - - CNGB1_000002 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12012050 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. 4 c.262C>T r.(?) p.(Gln88*) Unknown ACMG pathogenic (recessive) g.57998062G>A g.57964158G>A - - CNGB1_000002 ACMG PVS1, PM2, PP1, PP3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.262C>T r.(?) p.(Gln88*) Parent #1 - pathogenic (recessive) g.57998062G>A g.57964158G>A - - CNGB1_000002 - PubMed: Afshar 2020 - - Germline - - - - - DNA SEQ - - retinal disease Pat11 PubMed: Afshar 2020 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 4 c.262C>T r.(?) p.(Gln88*) Parent #2 - pathogenic (recessive) g.57998062G>A g.57964158G>A - - CNGB1_000002 - PubMed: Afshar 2020 - - Germline - - - - - DNA SEQ - - retinal disease Pat9 PubMed: Afshar 2020 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.262C>T r.(?) p.(Gln88Ter) Parent #1 - pathogenic (recessive) g.57998062G>A g.57964158G>A - - CNGB1_000002 - PubMed: Hull 2017 - - Germline - - - - - DNA SEQ - - retinal disease FamGC2533Pat1 PubMed: Hull 2017 3-generation family, 1 affected F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.290+2T>C r.spl? p.? Unknown ACMG likely pathogenic (recessive) g.57998032A>G - - - CNGB1_000320 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-855225 - Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 3888727 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M likely Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+/. - c.290+2T>C r.spl? p.? Both (homozygous) ACMG likely pathogenic (recessive) g.57998032A>G - - - CNGB1_000320 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-166434 - Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 3888727 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M likely Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+?/. - c.292C>T r.(?) p.(Pro98Ser) Unknown - likely pathogenic (recessive) g.57996967G>A g.57963063G>A - - CNGB1_000210 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP190 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-/. - c.299G>A r.(?) p.(Arg100His) Unknown - benign g.57996960C>T g.57963056C>T CNGB1(NM_001297.5):c.299G>A (p.R100H) - CNGB1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.299G>A r.(?) p.(Arg100His) Unknown - benign g.57996960C>T g.57963056C>T CNGB1(NM_001297.5):c.299G>A (p.R100H) - CNGB1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.299G>A r.(?) p.(Arg100His) Unknown - benign g.57996960C>T g.57963056C>T - - CNGB1_000022 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs13336595 Germline - 294/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 294 Yoshito Koyanagi
-/. - c.299G>A r.(?) p.(Arg100His) Both (homozygous) - benign g.57996960C>T g.57963056C>T - - CNGB1_000022 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs13336595 Germline - 875/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 875 Yoshito Koyanagi
-/. 5 c.299G>A r.(?) p.(Arg100His) Unknown - benign g.57996960C>T g.57963056C>T c.299A>G - CNGB1_000022 variant found in cases and controls PubMed: Bareil 2001, Journal: Bareil 2001 - - Germline - - StyI - - DNA SEQ - - RP - PubMed: Bareil 2001, Journal: Bareil 2001 controls and patients - - France - - - - - 1 Johan den Dunnen
+/. 5 c.315G>A r.(?) p.(Trp105*) Unknown ACMG pathogenic (recessive) g.57996944C>T g.57963040C>T - - CNGB1_000287 ACMG PVS1, PM2, PP3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.315G>A r.(?) p.(Trp105*) Both (homozygous) ACMG pathogenic (recessive) g.57996944C>T g.57963040C>T - - CNGB1_000287 ACMG PVS1, PM2, PP3 PubMed: Nassisi 2021 - - Germline - - - - - DNA SEQ - - retinal disease ARRP396 PubMed: Nassisi 2021 - - - - Asia-W - - - - 1 Johan den Dunnen
+?/. - c.315G>A r.(?) p.(Trp105*) Parent #1 - likely pathogenic g.57996944C>T g.57963040C>T CNGB1, variant 1: c.315G>A/p.W105*, variant 2: c.315G>A/p.W105* - CNGB1_000287 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 926 PubMed: Weisschuh 2020 Filing key number: 396, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
-/. - c.327C>T r.(?) p.(Gly109=) Unknown - benign g.57996932G>A g.57963028G>A CNGB1(NM_001297.5):c.327C>T (p.G109=) - CNGB1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.327C>T r.(?) p.(Gly109=) Unknown - benign g.57996932G>A g.57963028G>A CNGB1(NM_001297.5):c.327C>T (p.G109=) - CNGB1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.327C>T r.(?) p.(Gly109=) Unknown - benign g.57996932G>A g.57963028G>A - - CNGB1_000011 - PubMed: Bareil 2001, Journal: Bareil 2001 - - Germline - - - - - DNA SEQ - - RP - PubMed: Bareil 2001, Journal: Bareil 2001 controls and patients - - France - - - - - 1 Johan den Dunnen
+/. 5 c.346C>T r.(?) p.(Gln116*) Unknown ACMG pathogenic (recessive) g.57996913G>A g.57963009G>A - - CNGB1_000286 ACMG PVS1, PM2, PP3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.346C>T r.(?) p.(Gln116*) Parent #2 - pathogenic (recessive) g.57996913G>A g.57963009G>A - - CNGB1_000286 - PubMed: Afshar 2020 - - Germline - - - - - DNA SEQ - - retinal disease Pat10 PubMed: Afshar 2020 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.346C>T r.(?) p.(Gln116*) Parent #1 ACMG pathogenic (recessive) g.57996913G>A g.57963009G>A - - CNGB1_000286 ACMG PVS1, PM2, PP3 PubMed: Nassisi 2021 - - Germline - - - - - DNA SEQ - - retinal disease MEH28189 PubMed: Nassisi 2021 - - - - Europe - - - - 1 Johan den Dunnen
+/. - c.346C>T r.(?) p.(Gln116*) Unknown ACMG pathogenic g.57996913G>A g.57963009G>A CNGB1 c.346C>T, p.(Gln116*) - CNGB1_000286 compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 41_49 PubMed: Zhu 2022 family 41, individual 49 M - - - - - - - 1 LOVD
?/. - c.358A>G r.(?) p.(Ser120Gly) Unknown - VUS g.57996901T>C g.57962997T>C - - CNGB1_000125 - 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
+?/. 5 c.367G>T r.(?) p.(Glu123*) Parent #1 - likely pathogenic g.57996892C>A - c.367G>T - CNGB1_000315 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 6 c.385del r.(?) p.(Leu129Trpfs*148) Unknown ACMG pathogenic (recessive) g.57996774del g.57962870del - - CNGB1_000285 ACMG PVS1, PM2, PP3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.385del r.(?) p.(Leu129Trpfs*148) Both (homozygous) - pathogenic (recessive) g.57996774del g.57962870del 385delC - CNGB1_000285 - PubMed: Xiang 2018 - - Germline - - - - - DNA SEQ - WES retinal disease FamPatIV1 PubMed: Xiang 2018 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes China - - - - - 1 Johan den Dunnen
-/. - c.412+8C>A r.(=) p.(=) Unknown - benign g.57996738G>T g.57962834G>T CNGB1(NM_001297.4):c.412+8C>A, CNGB1(NM_001297.5):c.412+8C>A - CNGB1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.412+8C>A r.(=) p.(=) Unknown - likely benign g.57996738G>T g.57962834G>T CNGB1(NM_001297.4):c.412+8C>A, CNGB1(NM_001297.5):c.412+8C>A - CNGB1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.412+8C>A r.(=) p.(=) Unknown - likely pathogenic (recessive) g.57996738G>T g.57962834G>T - - CNGB1_000076 - PubMed: Xu 2014 - rs185727761 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP190 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+/. 6i c.413-1G>A r.spl p.? Both (homozygous) - pathogenic g.57996515C>T g.57962611C>T - - CNGB1_000030 - PubMed: Saqib 2015, Journal: Saqib 2015 - - Germline yes - - - - DNA SEQ - - retinal disease FamMA97 PubMed: Saqib 2015, Journal: Saqib 2015 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - 2 Johan den Dunnen
+/. - c.413-1G>A r.spl? p.? Unknown - pathogenic g.57996515C>T g.57962611C>T - - CNGB1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.413-1G>A r.spl p.? Unknown ACMG pathogenic g.57996515C>T - - - CNGB1_000030 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.413-1G>A r.spl? p.? Both (homozygous) - pathogenic (recessive) g.57996515C>T - 16:57996515C>T ENST00000251102.8:c.413-1G>A - CNGB1_000030 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005183 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.413-1G>A r.spl p.? Unknown - pathogenic g.57996515C>T g.57962611C>T - - CNGB1_000030 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 4308 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+/. - c.413-1G>A r.spl p.? Unknown - pathogenic g.57996515C>T g.57962611C>T - - CNGB1_000030 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 4308 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+/. - c.413-1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.57996515C>T g.57962611C>T - - CNGB1_000030 - PubMed: Van Huet 2015 - - Germline - - - - - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 - - - Netherlands - - - - - 1 LOVD
+?/. 6i c.413-1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.57996515C>T - c.412-1G>A - CNGB1_000230 - PubMed: Azam-2011 - - Germline yes - - - - DNA microsat - - retinal disease - PubMed: Azam-2011 - - yes Pakistan pakistani - - - - 1 LOVD
+?/. 6i c.413-1G>A r.(?) p.(?) Unknown - likely pathogenic g.57996515C>T g.57962611C>T CNGB1 IVS6 c.413-1G>A p.(?), Ex.26 c.2567_2568del p.(Phe856*) - CNGB1_000030 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-0591 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+/. 6i c.413-1G>A r.spl p.(Cys139Alafs*138) Unknown ACMG pathogenic (recessive) g.57996515C>T g.57962611C>T - - CNGB1_000030 ACMG PVS1, PM2, PS3, PP3, PP5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.413-1G>A r.spl p.(Cys139Alafs*138) Both (homozygous) - pathogenic (recessive) g.57996515C>T g.57962611C>T - - CNGB1_000030 - PubMed: Afshar 2020 - - Germline - - - - - DNA SEQ - - retinal disease Pat13 PubMed: Afshar 2020 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.413-1G>A r.(?) p.? Parent #1 - pathogenic (recessive) g.57996515C>T g.57962611C>T - - CNGB1_000030 - PubMed: Charbel Issa 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat7 PubMed: Charbel Issa 2018 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.413-1G>A r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.57996515C>T g.57962611C>T - - CNGB1_000030 ACMG PVS1, PM2, PS3, PP3, PP5 PubMed: Nassisi 2021 - - Germline - - - - - DNA SEQ - - retinal disease ARRP278 PubMed: Nassisi 2021 - - - - Europe - - - - 1 Johan den Dunnen
+?/. - c.413-1G>A r.spl p.(?) Parent #1 - likely pathogenic g.57996515C>T g.57962611C>T CNGB1, variant 1: c.413-1G>A/p.?, variant 2: c.3139_3142dup/ p.A1048Gfs*13 - CNGB1_000030 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 363 PubMed: Weisschuh 2020 Filing key number: 122, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.413-1G>A r.spl p.(?) Both (homozygous) - pathogenic g.57996515C>T g.57962611C>T CNGB1 c.413-1G>A, - CNGB1_000030 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005183 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 6i c.413-1G>A r.spl? p.? Unknown - pathogenic (recessive) g.57996515C>T - c.413-1G>A - CNGB1_000030 - PubMed: Colombo-2020 - rs189234741 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. - c.413-1G>A r.spl p.? Unknown ACMG pathogenic g.57996515C>T g.57962611C>T CNGB1 c.413-1G>A, p.? - CNGB1_000030 compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 41_49 PubMed: Zhu 2022 family 41, individual 49 M - - - - - - - 1 LOVD
+/. 6i c.413-1G>A r.spl? p.(?) Parent #1 - pathogenic g.57996515C>T - c.413-1G>A - CNGB1_000030 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.413-1G>A r.spl p.? Unknown ACMG pathogenic (recessive) g.57996515C>T g.57962611C>T - - CNGB1_000030 ACMG PM2, PVS1, PP5, PS4 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? USHII-369 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.413-1G>A r.spl p.? Unknown ACMG pathogenic (recessive) g.57996515C>T g.57962611C>T - - CNGB1_000030 ACMG PM2, PVS1, PP5, PS4; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SCHI-87 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. 7 c.451G>C r.(?) p.(Asp151His) Unknown - VUS g.57996476C>G - c.451G>C - CNGB1_000304 - PubMed: Colombo-2020 - rs761126116 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
-/. - c.458+7C>T r.(=) p.(=) Unknown - benign g.57996462G>A g.57962558G>A CNGB1(NM_001297.5):c.458+7C>T - CNGB1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.458+8C>T r.(?) p.? Parent #1 - VUS g.57996461G>A g.57962557G>A - - CNGB1_000174 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease EC02 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
?/. - c.479T>C r.(?) p.(Leu160Pro) Unknown - VUS g.57994799A>G g.57960895A>G CNGB1(NM_001297.4):c.479T>C (p.L160P) - CNGB1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.522dup r.(?) p.(Lys175Glnfs*4) Unknown ACMG pathogenic (recessive) g.57994761dup g.57960857dup - - CNGB1_000284 ACMG PVS1, PM2, PP1, PP3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.522dup r.(?) p.(Lys175GlnfsTer4) Parent #2 - pathogenic (recessive) g.57994761dup g.57960857dup c.522_523insC - CNGB1_000284 - PubMed: Petersen-Jones 2018 - - Germline - - - - - DNA SEQ - - retinal disease FamBPat5 PubMed: Petersen-Jones 2018 sister M - United States - - - - - 2 Johan den Dunnen
+/. - c.522dup r.(?) p.(Lys175GlnfsTer4) Parent #2 - pathogenic (recessive) g.57994761dup g.57960857dup c.522_523insC - CNGB1_000284 - PubMed: Petersen-Jones 2018 - - Germline - - - - - DNA SEQ - - retinal disease FamBPat6 PubMed: Petersen-Jones 2018 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.522dup r.(?) p.(Lys175Glnfs*4) Parent #2 - pathogenic (recessive) g.57994761dup g.57960857dup K175fs - CNGB1_000284 - PubMed: Lingao 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease Pat9 PubMed: Lingao 2016 2-generation family, 2 affected brothers M - - - - - - - 2 Johan den Dunnen
+/. - c.522dup r.(?) p.(Lys175Glnfs*4) Parent #2 - pathogenic (recessive) g.57994761dup g.57960857dup K175fs - CNGB1_000284 - PubMed: Lingao 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease Pat13 PubMed: Lingao 2016 - M - - - - - - - 1 Johan den Dunnen
+/. 8i c.534+1G>A r.spl p.? Unknown ACMG pathogenic (recessive) g.57994743C>T g.57960839C>T - - CNGB1_000283 ACMG PVS1, PM2, PP3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8i c.534+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.57994743C>T g.57960839C>T - - CNGB1_000283 - PubMed: Afshar 2020 - - Germline - - - - - DNA SEQ - - retinal disease Pat8 PubMed: Afshar 2020 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.583+2T>C r.spl p.? Parent #1 - pathogenic (recessive) g.57994384A>G - - - CNGB1_000246 - PubMed: Radojevic 2021 - - Germline - - - - - DNA SEQ - - retinal disease FamH PubMed: Radojevic 2021 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.583+2T>C r.(535_583del) p.(Val179Argfs*82) Parent #1 - NA g.57994384A>G - - - CNGB1_000246 in vitro splicing assay shows exon skipping PubMed: Mauro-Herrera 2021 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.583+2T>C r.spl p.? Parent #1 - pathogenic (recessive) g.57994384A>G g.57960480A>G - - CNGB1_000246 - PubMed: Radojevic 2021 - - Germline - - - - - DNA SEQ - - retinal disease FamHPat1 PubMed: Radojevic 2021 - F - United States - - - - - 1 Johan den Dunnen
-?/. - c.584-9G>A r.(=) p.(=) Unknown - likely benign g.57993978C>T g.57960074C>T CNGB1(NM_001297.4):c.584-9G>A - CNGB1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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