Full data view for gene CNGA1

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

267 entries on 3 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.-141_-111+9799{2} r.? p.? Unknown ACMG likely pathogenic (recessive) g.48003012_48022989dup g.48000995_48020972dup - - CNGA1_000125 ACMG PM2, PVS1; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-326 PubMed: Weisschuh 2024 patient F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.300-1369_*444{0} r.? p.? Both (homozygous) ACMG likely pathogenic (recessive) g.47931965_47946798del g.47929948_47944781del - - CNGA1_000052 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-409 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
-/. - c.-31568T>G r.(?) p.(=) Unknown - benign g.48014977A>C g.48012960A>C - - CNGA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-29408C>T r.(?) p.(=) Unknown - benign g.48012817G>A g.48010800G>A - - CNGA1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.? r.? p.? Unknown - VUS g.? - NM_000087.3:c.1018C>A (P340T) - TRAPPC11_000000 - PubMed: Xu 2014 - rs192912733 Germline - 4/314 case chromosomes - - - DNA SEQ-NG-I - - retinal disease - PubMed: Xu 2014 - M yes China Chinese - - - - 1 Rob W.J. Collin
?/. - c.? r.? p.? Unknown - VUS g.? - c.1271G>A (R424Q) - TRAPPC11_000000 - PubMed: Xu 2014 - rs192912733 Germline - 4/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP329 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+?/. - c.? r.? p.? Unknown - likely pathogenic (recessive) g.? - NM_000087.3:c.265delC (L89Ffs*4) - TRAPPC11_000000 - PubMed: Xu 2014 - rs150374036 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP193 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
+?/. - c.? r.? p.? Unknown - likely pathogenic (recessive) g.? - NM_000087.3:c.844T>A (F282I) - TRAPPC11_000000 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP309 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
+?/. - c.? r.? p.? Unknown - likely pathogenic (recessive) g.? - NM_000087.3:c.1951A>C (M651L) - TRAPPC11_000000 - PubMed: Xu 2014 - rs138053512 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP314 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - NM_000087.3:c.1271G>A (R424Q) - TRAPPC11_000000 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP065 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - NM_000087.3:c.1271G>A (R424Q) - TRAPPC11_000000 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP252 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - NM_000087.3:c.1271G>A (R424Q) - TRAPPC11_000000 - PubMed: Xu 2014 - rs192912733 Germline - 4/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP298 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - NM_000087.3:c.1271G>A (R424Q) - TRAPPC11_000000 - PubMed: Xu 2014 - rs192912733 Germline - 4/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP313 PubMed: Xu 2014 family F - China - - - - - 1 LOVD
+/. - c.? r.? p.? Parent #1 - pathogenic (recessive) g.? - c.1678G>A - TRAPPC11_000000 - PubMed: Liu 2015 - - Germline - - - - - DNA SEQ-NG - 316-gene panel retinal disease RH20-PatII1 PubMed: Liu 2015 - F - China - - - - - 1 LOVD
+/. 2 c.? r.(?) p.? Both (homozygous) - pathogenic g.? - c.94G>A - TRAPPC11_000000 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+/. 2 c.? r.(?) p.? Both (homozygous) - pathogenic g.? - c.94G>A - TRAPPC11_000000 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
-/. 2 c.? r.(?) p.? Both (homozygous) - benign g.? - c.94G>A - TRAPPC11_000000 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - yes - Spanish - - - - 1 LOVD
+/. 2 c.? r.(?) p.? Both (homozygous) - pathogenic g.? - c.94G>A - TRAPPC11_000000 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+/. - c.? r.(?) p.? Both (homozygous) - pathogenic g.? - C. 94G>A - TRAPPC11_000000 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+/. 2 c.? r.(?) p.? Both (homozygous) - pathogenic g.? - c.94G>A - TRAPPC11_000000 - PubMed: Avila Fernandez 2010 - - Germline yes - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
-/. 2 c.? r.(?) p.? Unknown - benign g.47973023C>T - c.95G>A - TRAPPC11_000000 - PubMed: Simpson-2011 - - Germline - 1.90% in 360 controls - - - DNA arraySEQ, PCR, SEQ blood - retinal disease - PubMed: Simpson-2011 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 2 c.? r.(?) p.? Unknown - pathogenic g.47973001G>T - c.117C>A - TRAPPC11_000000 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
?/. 2 c.? r.(?) p.? Both (homozygous) - VUS g.47973077T>A - c.41A>T:p.Q14L - TRAPPC11_000000 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - F - Japan Japanese - - - - 1 LOVD
-?/. - c.1-14T>A r.(=) p.(=) Unknown - likely benign g.47973131A>T g.47971114A>T CNGA1(NM_001142564.2):c.-219-14T>A - CNGA1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1-3del r.spl? p.? Unknown - benign g.47973131del g.47971114del CNGA1(NM_001142564.2):c.-219-3delT - CNGA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1-3dup r.spl? p.? Unknown - benign g.47973131dup g.47971114dup CNGA1(NM_001142564.2):c.-219-3dupT - CNGA1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8C>T r.(?) p.(Ser3Phe) Unknown - benign g.47973110G>A g.47971093G>A - - CNGA1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.17C>T r.(?) p.(Ser6Leu) Unknown - likely benign g.47973101G>A g.47971084G>A CNGA1(NM_001142564.1):c.17C>T (p.S6L) - CNGA1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18G>A r.(?) p.(Ser6=) Unknown - likely benign g.47973100C>T - CNGA1(NM_001142564.1):c.18G>A (p.S6=) - CNGA1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.40G>A r.(?) p.(Ala14Thr) Unknown - VUS g.47973078C>T g.47971061C>T CNGA1(NM_001142564.1):c.40G>A (p.A14T), CNGA1(NM_001142564.2):c.-180G>A - CNGA1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.40G>A r.(?) p.(Ala14Thr) Unknown - VUS g.47973078C>T - CNGA1(NM_001142564.1):c.40G>A (p.A14T), CNGA1(NM_001142564.2):c.-180G>A - CNGA1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.82C>T r.(?) p.(Arg28*) Parent #1 - pathogenic g.47973036G>A - c.82C>T - CNGA1_000123 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
-?/. - c.128A>G r.(?) p.(His43Arg) Unknown - likely benign g.47972990T>C - CNGA1(NM_001142564.1):c.128A>G (p.H43R) - CNGA1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.164G>A r.(?) p.(Ser55Asn) Unknown - VUS g.47972954C>T g.47970937C>T - - CNGA1_000051 - 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
+?/. 5 c.191del r.(?) p.(Ser64MetfsTer7) Both (homozygous) - likely pathogenic g.47972927del g.47970910del 191delG - CNGA1_000085 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#002 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+?/. 5 c.191del r.(?) p.(Ser64MetfsTer7) Both (homozygous) - likely pathogenic g.47972927del g.47970910del 191delG - CNGA1_000085 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#021 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+/. - c.191del r.(?) p.(Ser64MetfsTer7) Both (homozygous) ACMG pathogenic g.47972927del g.47970910del CNGA1 c.191delG, p.G64fs - CNGA1_000085 marked as causative, homozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 31 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+/. 2 c.191del r.(?) p.(Ser64Metfs*7) Unknown - pathogenic (recessive) g.47972927del - c.191delG:p.G64fs - CNGA1_000085 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+/. 2 c.191del r.(?) p.(Ser64Metfs*7) Unknown - pathogenic (recessive) g.47972927del - c.191delG:p.G64fs - CNGA1_000085 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+/. 2 c.191del r.(?) p.(Ser64Metfs*7) Both (homozygous) - pathogenic (recessive) g.47972927del - c.191delG:p.G64fs - CNGA1_000085 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - F - Japan Japanese - - - - 1 LOVD
?/. 2i c.225-33C>T r.spl? p.? Both (homozygous) - VUS g.47954734G>A - rs1972883 - CNGA1_000086 Other changes detected in the proband: rs59800634, rs6819506 PubMed: Singh 2009 - rs1972883 Germline - - - - - DNA PCRm, SEQ blood - retinal disease - PubMed: Singh 2009 - - yes - Indian - - - - 1 LOVD
-?/. - c.246G>A r.(?) p.(Gln82=) Unknown - likely benign g.47954680C>T - CNGA1(NM_001142564.1):c.246G>A (p.Q82=), CNGA1(NM_001142564.2):c.27G>A (p.Q9=) - CNGA1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246G>A r.(?) p.(Gln82=) Unknown - likely benign g.47954680C>T - CNGA1(NM_001142564.1):c.246G>A (p.Q82=), CNGA1(NM_001142564.2):c.27G>A (p.Q9=) - CNGA1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.248A>T r.(?) p.(Gln83Leu) Unknown - VUS g.47954678T>A g.47952661T>A - - CNGA1_000050 - 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
+/. 3 c.253del r.(?) p.(Leu85Phefs*4) Both (homozygous) - pathogenic g.47954673del - c.253del - CNGA1_000122 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.267del r.(?) p.(Asn90Metfs*2) Both (homozygous) ACMG pathogenic g.47954661del g.47952644del c.265delC - CNGA1_000073 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19512 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.267del r.(?) p.(Asn90Metfs*2) Both (homozygous) ACMG pathogenic g.47954661del g.47952644del c.265delC - CNGA1_000073 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19650 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+?/. 6 c.267del r.(?) p.(Asn90MetfsTer2) Unknown - likely pathogenic g.47954661del g.47952644del 265delC - CNGA1_000073 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#019 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+?/. 6 c.267del r.(?) p.(Asn90MetfsTer2) Both (homozygous) - likely pathogenic g.47954661del g.47952644del 265delC - CNGA1_000073 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#029 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+?/. 3 c.267del r.(?) p.(Asn90Metfs*2) Both (homozygous) - likely pathogenic (recessive) g.47954659del - c.265delC - CNGA1_000073 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 3 c.267del r.(?) p.(Asn90Metfs*2) Both (homozygous) - likely pathogenic (recessive) g.47954659del - c.265delC - CNGA1_000073 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 3 c.267del r.(?) p.(Asn90Metfs*2) Both (homozygous) - likely pathogenic (recessive) g.47954659del - c.265delC - CNGA1_000073 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 3 c.267del r.(?) p.(Asn90Metfs*2) Both (homozygous) - likely pathogenic (recessive) g.47954659del - c.265delC - CNGA1_000073 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 3 c.267del r.(?) p.(Asn90Metfs*2) Unknown - likely pathogenic (recessive) g.47954659del - c.265delC - CNGA1_000073 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 3 c.267del r.(?) p.(Asn90Metfs*2) Unknown - likely pathogenic (recessive) g.47954659del - c.265delC - CNGA1_000073 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 3 c.267del r.(?) p.(Asn90Metfs*2) Both (homozygous) - likely pathogenic (recessive) g.47954659del - c.265delC - CNGA1_000073 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 3 c.267del r.(?) p.(Asn90Metfs*2) Unknown - likely pathogenic (recessive) g.47954659del - c.265delC - CNGA1_000073 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 3 c.267del r.(?) p.(Asn90Metfs*2) Both (homozygous) - pathogenic (recessive) g.47954659del - c.265delC:p.L89fs - CNGA1_000073 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+/. 3 c.267del r.(?) p.(Asn90Metfs*2) Unknown - pathogenic (recessive) g.47954659del - c.265delC:p.L89fs - CNGA1_000073 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+/. 3 c.267del r.(?) p.(Asn90Metfs*2) Both (homozygous) - pathogenic (recessive) g.47954659del - c.265delC:p.L89fs - CNGA1_000073 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+/. 3 c.267del r.(?) p.(Asn90Metfs*2) Unknown - pathogenic (recessive) g.47954659del - c.265delC:p.L89fs - CNGA1_000073 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+?/. - c.(287+1_288-1)_(652+1_653-1)del r.? p.(Glu97Leufs*13) Parent #2 - likely pathogenic g.? - c.(287+1_288-1)_(652+1_653-1)del - TRAPPC11_000000 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.301C>T r.(?) p.(Arg101*) Unknown - pathogenic g.47954625G>A g.47952608G>A - - CNGA1_000026 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs199636364 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.301C>T r.(?) p.(Arg101Ter) Unknown - likely pathogenic g.47954625G>A g.47952608G>A CNGA1(NM_000087.3):c.94C>T (p.(Arg32Ter)), CNGA1(NM_001142564.2):c.82C>T (p.R28*) - CNGA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.301C>T r.(?) p.(Arg101Ter) Unknown - pathogenic g.47954625G>A g.47952608G>A CNGA1(NM_000087.3):c.94C>T (p.(Arg32Ter)), CNGA1(NM_001142564.2):c.82C>T (p.R28*) - CNGA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.301C>T r.(?) p.(Arg101*) Unknown ACMG pathogenic g.47954625G>A - - - CNGA1_000026 - 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.301C>T r.(?) p.(Arg101*) Parent #1 - likely pathogenic g.47954625G>A g.47952608G>A NM_000087.3:c.94C>T - CNGA1_000026 - PubMed: Perez-Carro 2016 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease RP-1147 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+/. - c.301C>T r.(?) p.(Arg101Ter) Both (homozygous) - pathogenic g.47954625G>A g.47952608G>A - - CNGA1_000026 - PubMed: Méndez-Vidal 2014 - - Germline - - - - - DNA arraySEQ - Reseq retinal disease Pat7 PubMed: Méndez-Vidal 2014 - - - Spain - - - - - 1 LOVD
+/. 5 c.301C>T r.(?) p.(Arg101*) Both (homozygous) ACMG pathogenic g.47954625G>A g.47952608G>A - - CNGA1_000026 - Tracewska 2021, MolVis in press - - Germline - 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 317 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - 1 LOVD
+?/. 5 c.301C>T r.(?) p.(Arg101*) Maternal (confirmed) - likely pathogenic g.47954625G>A g.47952608G>A c.94C>T, p.(Arg32*) NM_000087.3 - CNGA1_000026 another transcript in publication PubMed: Martin-Merida 2018 - - Germline yes 1/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease RP-0038 PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. - c.301C>T r.(?) p.(Arg101*) Unknown - likely pathogenic g.47954625G>A g.47952608G>A NM_001142564, c.301C>T, p.Arg101Ter - CNGA1_000026 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:3 PubMed: Ezquerra-Inchausti 2018 Family RP77, II:3 ? no Spain - - - - - 1 LOVD
+?/. - c.301C>T r.(?) p.(Arg101*) Unknown - likely pathogenic g.47954625G>A g.47952608G>A NM_001142564, c.301C>T, p.Arg101Ter - CNGA1_000026 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:4 PubMed: Ezquerra-Inchausti 2018 Family RP77, II:4 ? no Spain - - - - - 1 LOVD
+?/. 6 c.301C>T r.(?) p.(Arg101*) Both (homozygous) - likely pathogenic g.47954625G>A g.47952608G>A CNGA1 c.82C>T; R28X - CNGA1_000026 different transcript; NM_001379270.1(CNGA1):c.82C>T, p.(Arg28*) = NM_001142564.1(CNGA1):c.301C>T, p.(Arg101*); homozygous PubMed: Paloma 2002 - - Germline ? - - - - DNA STR, SEQ, RFLP blood - retinal disease M-68_II:6 PubMed: Paloma 2002 family M-68, individual II:6, proband M - Spain - - - - - 1 LOVD
+?/. 6 c.301C>T r.(?) p.(Arg101*) Both (homozygous) - likely pathogenic g.47954625G>A g.47952608G>A CNGA1 c.82C>T; R28X - CNGA1_000026 different transcript; NM_001379270.1(CNGA1):c.82C>T, p.(Arg28*) = NM_001142564.1(CNGA1):c.301C>T, p.(Arg101*); homozygous PubMed: Paloma 2002 - - Germline ? - - - - DNA STR, SEQ, RFLP blood - retinal disease M-68_II:1 PubMed: Paloma 2002 family M-68, individual II:1, proband's sister F - Spain - - - - - 1 LOVD
+/. - c.301C>T r.(?) p.(Arg32Ter) Both (homozygous) ACMG pathogenic (recessive) g.47954625G>A g.47952608G>A - - CNGA1_000026 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 548707 - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-408 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.302G>A r.(?) p.(Arg101Gln) Unknown - VUS g.47954624C>T g.47952607C>T - - CNGA1_000049 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs76537883 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.302G>A r.(?) p.(Arg101Gln) Parent #1 - VUS g.47954624C>T g.47952607C>T - - CNGA1_000049 28 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76537883 Germline - 28/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 28 Mohammed Faruq
?/. - c.302G>A r.(?) p.(?) Unknown - VUS g.? - NM_000087.3:c.95G>A - TRAPPC11_000000 - PubMed: Wang 2014 - rs76537883 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 39 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+?/. - c.304dup r.(?) p.(Arg102Lysfs*12) Unknown ACMG likely pathogenic g.47954623dup g.47952606dup CNGA1:NM_001142564 c.304dupA, p.R102fs - CNGA1_000099 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-287 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.338del r.(?) p.(Glu113Glyfs*49) Paternal (confirmed) - likely pathogenic g.47953475del g.47951458del c.131del, p.(Glu44Glyfs*49) NM_000087.3 - CNGA1_000087 another transcript in publication PubMed: Martin-Merida 2018 - - Germline yes 1/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease RP-0038 PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
-?/. 4 c.372C>T r.(?) p.N124N Unknown - likely benign g.47953441G>A - c.372C>T - CNGA1_000096 C not found at position 513, found A instead. PubMed: González-del Pozo-2011 - - Germline no - - - - DNA arraySEQ, MLPA - - retinal disease - PubMed: González-del Pozo-2011 - - - - Spanish - - - - 3 LOVD
+/. - c.398del r.(?) p.(Gly133ValfsTer29) Parent #2 - pathogenic (recessive) g.47953418del g.47951401del 397del - CNGA1_000081 - PubMed: Liu 2015 - - Germline - - - - - DNA SEQ-NG - 316-gene panel retinal disease RH20-PatII1 PubMed: Liu 2015 - F - China - - - - - 1 LOVD
+?/. - c.398del r.(?) p.(Gly133ValfsTer29) Parent #1 - likely pathogenic g.47953418del g.47951401del 398delG - CNGA1_000081 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6263 PubMed: Oishi 2014 simplex case - - Japan - - - - - 1 LOVD
+?/. - c.398delG r.(?) p.(Gly133Valfs*29) Unknown ACMG pathogenic g.47953418del .47951401del - - CNGA1_000081 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0042 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
-/. - c.398G>A r.(?) p.(Gly133Asp) Unknown - benign g.47953415C>T g.47951398C>T CNGA1(NM_001142564.2):c.179G>A (p.G60D) - CNGA1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.398G>T r.(?) p.(Gly133Val) Unknown - VUS g.47953415C>A g.47951398C>A CNGA1(NM_001142564.1):c.398G>T (p.G133V), CNGA1(NM_001142564.2):c.179G>T (p.G60V) - CNGA1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.398G>T r.(?) p.(Gly133Val) Unknown - likely benign g.47953415C>A g.47951398C>A CNGA1(NM_001142564.1):c.398G>T (p.G133V), CNGA1(NM_001142564.2):c.179G>T (p.G60V) - CNGA1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.400del r.(?) p.(Ser134Profs*28) Unknown - VUS g.47953414del g.47951397del - - CNGA1_000048 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236058 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
+?/. 6 c.453C>A r.(?) p.(Tyr151*) Parent #1 - likely pathogenic g.47951903G>T g.47949886G>T CNGA1 c.246C > A, p.Y82X - CNGA1_000115 different transcript: NM_000087.3(CNGA1):c.246C>A, p.(Tyr82*) = NM_001142564.1(CNGA1):c.453C>A, p.(Tyr151*); heterozygous PubMed: Wang 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease II:3 PubMed: Wang 2016 - M - China - - - - - 1 LOVD
+?/. 6 c.453C>A r.(?) p.(Tyr151*) Parent #1 - likely pathogenic g.47951903G>T g.47949886G>T CNGA1 c.246C > A, p.Y82X - CNGA1_000115 different transcript: NM_000087.3(CNGA1):c.246C>A, p.(Tyr82*) = NM_001142564.1(CNGA1):c.453C>A, p.(Tyr151*); heterozygous PubMed: Wang 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease II:1 PubMed: Wang 2016 - M - China - - - - - 1 LOVD
+/. - c.472del r.(?) p.(Leu158Phefs*4) Both (homozygous) - pathogenic g.47951883del - - - CNGA1_000047 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs749012133 Germline - 3/1196 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1196 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
+/. - c.472del r.(?) p.(Leu158PhefsTer4) Unknown - pathogenic g.47951884del g.47949867del CNGA1(NM_001142564.1):c.472delC (p.L158Ffs*4) - CNGA1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.472del r.(?) p.(Leu158Phefs*4) Both (homozygous) - likely pathogenic g.47951884del g.47949867del c.472_472delC - CNGA1_000047 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP038 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+?/. 5 c.472del r.(?) p.(Leu158PhefsTer4) Both (homozygous) - likely pathogenic (recessive) g.47951884del g.47949867del 472delC - CNGA1_000047 not in 100 controls PubMed: Yang 2015 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP135 PubMed: Yang 2015 family M - China Han - - - - 1 LOVD
+?/. - c.472del r.(?) p.(Leu158Phefs*4) Unknown ACMG pathogenic g.47951884del g.47949867del - - CNGA1_000047 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0042 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 6 c.472del r.(?) p.(Leu158Phefs*4) Both (homozygous) ACMG pathogenic g.47951884del g.47949867del NM_000087.3:c.265del, NP_000078.2:p.(Leu89PhefsTer4), NC_000004.11:g.47951884del - CNGA1_000047 different transcript (NM_000087.3) in publication PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016111416 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 5 c.472del r.(?) p.(Leu158Phefs*4) Both (homozygous) - pathogenic g.47951884delG - c.472delC(p.Leu158Phefs*4) - CNGA1_000047 - PubMed: Chen-2013 - - Germline - - - - - DNA arraySEQ, SEQ, PCR blood - retinal disease - PubMed: Chen-2013 - M - China Chinese - - - - 1 LOVD
+?/. - c.472del r.(?) p.(Leu158Phefs*4) Unknown - likely pathogenic g.47951884del g.47949867del c.472delC, p.Leu158Phefs4 - CNGA1_000047 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18184138_B PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+/. 5 c.472del r.(?) p.(Leu158Phefs*4) Both (homozygous) ACMG pathogenic g.47951884del g.47949867del CNGA1 c.472delC, p.(Leu158Phefs*4) - CNGA1_000047 homozygous PubMed: Dan 2020 - - Germline yes - - - - DNA SEQ-NG blood Panel 4 containing 370 genes retinal disease 58 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+/. 5 c.472del r.(?) p.(Leu158Phefs*4) Unknown ACMG pathogenic g.47951884del g.47949867del CNGA1 c.472delC, p.(Leu158Phefs*4) - CNGA1_000047 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG blood Panel 3 containing 78 genes retinal disease 16 PubMed: Dan 2020 - F ? China - - - - - 1 LOVD
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