Full data view for gene CNGA3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001298.2 transcript reference sequence.

1972 entries on 20 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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.-69666684_-69666683del r.(=) p.(=) - Unknown - pathogenic g.29296355_29296356del g.29073489_29073490del - - C2orf71_000060 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.-69668611T>A r.(=) p.(=) - Unknown - pathogenic g.29294424T>A g.29071558T>A - - C2orf71_000096 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
-/. - c.-286C>T r.(?) p.(=) - Unknown - benign g.98962749C>T g.98346286C>T - - CNGA3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1_8 c.(?_-116)_(2085_?)del r.0? p.0? - Parent #2 ACMG pathogenic g.(?_98962919)_(99013718_?)del - c.(?_-116)_(2085_?)del - CNGA3_000337 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072869 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.-37-1G>C r.spl? p.? - Unknown - pathogenic g.98986401G>C g.98369938G>C CNGA3(NM_001298.3):c.-37-1G>C - CNGA3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-37-1G>C r.spl? p.? - Unknown - likely pathogenic g.98986401G>C - CNGA3(NM_001298.3):c.-37-1G>C - CNGA3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-37-1G>C r.spl p.(?) - Unknown - pathogenic g.98986401G>C g.98369938G>C CNGB3: c.[1208G>A];[(1208G>A)], p.[R403Q];[(R403Q)], CNGA3: c.[-37-1G>C];[=] - CNGA3_000078 - PubMed: Burkhard 2018 - - Germline ? - - - - DNA SEQ-NG, SEQ blood - retinal disease 7 PubMed: Burkhard 2018 - F no - - - - - - 1 LOVD
+/. - c.? r.? p.? - Unknown - pathogenic g.? - 942C>A (Thr314Lys) - SNRNP200_000007 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat2 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
?/. - c.? r.? p.? - Unknown - VUS g.? - 943G>A (Asp315Asn) - SNRNP200_000007 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat15 PubMed: Costa 2017 - M - Brazil - - - - - 1 LOVD
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - p.His36fs - SNRNP200_000007 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - p.Lys512Met - SNRNP200_000007 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+?/. - c.? r.(?) p.(Cys319fsTer) - Parent #2 - likely pathogenic g.? g.? allele 1/2: F547L/C319fsX - SNRNP200_000007 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO513 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
?/. - c.1A>T r.(?) p.(Met1?) - Parent #2 ACMG VUS g.98986439A>T g.98369976A>T CNGA3 c.1A>T - CNGA3_000249 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
?/. - c.30C>A r.(?) p.(His10Gln) - Unknown - VUS g.98986468C>A g.98370005C>A CNGA3(NM_001298.3):c.30C>A (p.H10Q) - CNGA3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.40del r.(?) p.(Thr14Profs*5) - Parent #1 - likely pathogenic g.98986478del g.98370015del CNGA3 c.40delA, T14Pfsx4 - CNGA3_000232 heterozygous PubMed: Liang 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease F1-II1 PubMed: Liang 2015 - F - China - - - - - 1 LOVD
-/. - c.59C>T r.(?) p.(Thr20Ile) - Unknown - benign g.98986497C>T - CNGA3(NM_001298.3):c.59C>T (p.T20I) - CNGA3_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.62C>G r.(?) p.(Ser21Ter) - Unknown - pathogenic g.98986500C>G g.98370037C>G CNGA3(NM_001298.2):c.62C>G (p.S21*) - CNGA3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.62C>G r.(?) p.(Ser21Ter) - Parent #1 - likely pathogenic (recessive) g.98986500C>G g.98370037C>G - - CNGA3_000058 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT7 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.62C>G r.(?) p.(Ser21Ter) - Parent #1 - likely pathogenic (recessive) g.98986500C>G g.98370037C>G - - CNGA3_000058 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT353 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.62C>G r.(?) p.(Ser21Ter) - Both (homozygous) - likely pathogenic (recessive) g.98986500C>G g.98370037C>G - - CNGA3_000058 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT570 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.62C>G r.(?) p.(Ser21Ter) - Parent #1 - likely pathogenic (recessive) g.98986500C>G g.98370037C>G - - CNGA3_000058 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT942 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.62C>G r.(?) p.(Ser21Ter) - Parent #1 - likely pathogenic (recessive) g.98986500C>G g.98370037C>G - - CNGA3_000058 - PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT1305 PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.62C>G r.(?) p.(Ser21*) - Unknown - likely pathogenic g.98986500C>G g.98370037C>G c.62C>G, p.(Ser21*) - CNGA3_000058 compound heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14415 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.62C>G r.(?) p.(Ser21*) - Unknown - likely pathogenic g.98986500C>G g.98370037C>G CNGA3 c.62C>G(;)128C>A - CNGA3_000058 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 10668 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.62C>G r.(?) p.(Ser21*) - Parent #1 - likely pathogenic g.98986500C>G g.98370037C>G CNGA3 c.[62C>G];[1585G>A] - CNGA3_000058 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 15732 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. - c.62C>G r.(?) p.(Ser21*) - Parent #1 - likely pathogenic g.98986500C>G g.98370037C>G CNGA3 c.62C>G, p.S31X - CNGA3_000058 error in annotation: should be S21X and not S31X; heterozygous PubMed: Liang 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease F7-II1 PubMed: Liang 2015 - M - China - - - - - 1 LOVD
?/. - c.66C>G r.(?) p.(Asp22Glu) - Unknown - VUS g.98986504C>G g.98370041C>G CNGA3(NM_001298.2):c.66C>G (p.D22E) - CNGA3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.67C>T r.(?) p.(Arg23Ter) - Unknown - pathogenic g.98986505C>T g.98370042C>T - - CNGA3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.67C>T r.(?) p.(Arg23*) - Both (homozygous) - pathogenic g.98986505C>T g.98370042C>T - - CNGA3_000028 - Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - F yes Israel Druze - - - - 5 Dror Sharon
+/. - c.67C>T r.(?) p.(Arg23*) - Unknown ACMG pathogenic g.98986505C>T - - - CNGA3_000028 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - 3 Global Variome, with Curator vacancy
+/. 2 c.67C>T r.(?) p.(Arg23*) - Both (homozygous) - pathogenic (recessive) g.98986505C>T - Arg23Stop/Arg23Stop - CNGA3_000028 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 - - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+?/. - c.67C>T r.(?) p.(Arg23*) - Unknown - likely pathogenic g.98986505C>T g.98370042C>T - - CNGA3_000028 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 11011667 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.67C>T r.(?) p.(Arg23Ter) - Parent #1 - likely pathogenic (recessive) g.98986505C>T g.98370042C>T - - CNGA3_000028 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT425 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+/. 2 c.67C>T r.(?) p.(Arg23*) - Unknown - pathogenic g.98986505C>T - c.67C>T - CNGA3_000028 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 2 c.67C>T r.(?) p.(Arg23*) - Both (homozygous) - pathogenic g.98986505C>T - c.67C>T - CNGA3_000028 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+?/. - c.67C>T r.(?) p.(Arg23*) - Paternal (confirmed) - likely pathogenic g.98986505C>T g.98370042C>T c.1279C-->T, c.67C-->T; p.Arg427Cys, p.Arg23* - CNGA3_000028 confirmed with Sanger sequencing; compound heterozygous PubMed: Patel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - ACHM2 278 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.67C>T r.(?) p.(Arg23*) - Parent #1 - likely pathogenic g.98986505C>T g.98370042C>T CNGA3 allele 1/allele 2: R23X/R427C - CNGA3_000028 no cDNA annotation given, variant extrapolated from literature PubMed: Koeppen 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease ZD212 PubMed: Koeppen 2008 - M - - - - - - - 1 LOVD
+?/. - c.67C>T r.(?) p.(Arg23Ter) - Parent #2 - likely pathogenic g.98986505C>T g.98370042C>T allele 1/2: F547L/R23X - CNGA3_000028 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO440 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.67C>T r.(?) p.(Arg23Ter) - Both (homozygous) - likely pathogenic g.98986505C>T g.98370042C>T c.67C>T I c.67C>T - CNGA3_000028 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0178-4 PubMed: Zelinger 2015 - - yes Israel Druze - - - - 1 LOVD
+?/. - c.67C>T r.(?) p.(Arg23Ter) - Both (homozygous) - likely pathogenic g.98986505C>T g.98370042C>T c.67C>T I c.67C>T - CNGA3_000028 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0909-1 PubMed: Zelinger 2015 - - yes Israel Druze - - - - 1 LOVD
+/. - c.67C>T r.(?) p.(Arg23*) - Both (homozygous) ACMG pathogenic g.98986505C>T g.98370042C>T CNGA3 c.[67C>T;682G>A] - CNGA3_000028 homozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.67C>T r.(?) p.(Arg23*) - Parent #2 ACMG pathogenic g.98986505C>T g.98370042C>T CNGA3 c.67C>T - CNGA3_000028 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.67C>T r.(?) p.(Arg23*) - Parent #2 ACMG pathogenic g.98986505C>T g.98370042C>T CNGA3 c.67C>T - CNGA3_000028 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.67C>T r.(?) p.(Arg23*) - Parent #1 ACMG pathogenic g.98986505C>T g.98370042C>T CNGA3 c.67C>T - CNGA3_000028 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.67C>T r.(?) p.(Arg23*) - Parent #1 ACMG pathogenic g.98986505C>T g.98370042C>T CNGA3 c.67C>T - CNGA3_000028 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.67C>T r.(?) p.(Arg23Ter) - Parent #1 ACMG pathogenic (recessive) g.98986505C>T g.98370042C>T - - CNGA3_000028 ACMG PVS1, PS4_moderate, PM2_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Pat76 PubMed: Andersen 2023 patient - no Denmark - - - - - 1 Susanne Kohl
-?/. - c.68G>A r.(?) p.(Arg23Gln) N-Term Unknown - likely benign g.98986506G>A g.98370043G>A - - CNGA3_000309 ACMG PM2_mod, BP4_sup, BS3_strong PubMed: Solaki 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.68G>A - p.Arg23Gln N-Term Unknown - NA g.98986506G>A g.98370043G>A - - CNGA3_000309 in vitro functional analysis normalized overall luminescence signal (AUC) 0.81±0.05, normalized peak latency 0.89±0.03 PubMed: Solaki 2023 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.72T>C r.(?) p.(Asp24=) - Unknown - benign g.98986510T>C g.98370047T>C - - CNGA3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.80G>A r.(?) p.(Arg27His) N-Term Unknown - likely benign g.98986518G>A g.98370055G>A - - CNGA3_000310 ACMG PM2_mod, BP4_sup, BS3_strong PubMed: Solaki 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.80G>A - p.Arg27His N-Term Unknown - NA g.98986518G>A g.98370055G>A - - CNGA3_000310 in vitro functional analysis normalized overall luminescence signal (AUC) 0.78±0.06, normalized peak latency 0.96±0.05 PubMed: Solaki 2023 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.101+1G>A r.spl? p.? - Unknown - pathogenic g.98986540G>A g.98370077G>A CNGA3(NM_001298.2):c.101+1G>A - CNGA3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.101+1G>A r.spl p.? - Unknown ACMG pathogenic g.98986540G>A - - - CNGA3_000080 - 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.101+1G>A r.spl p.? - Parent #1 - likely pathogenic g.98986540G>A g.98370077G>A IVS2+1G>A - CNGA3_000080 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 456 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.101+1G>A r.spl p.(?) - Both (homozygous) - likely pathogenic g.98986540G>A g.98370077G>A c.101+1G>A - CNGA3_000080 - PubMed: Abdelkader 2018 - - Germline ? - - - - DNA SEQ-NG blood Whole-exome sequencing retinal disease 2 PubMed: Abdelkader 2018 - M yes - - - - - - 1 LOVD
+?/. - c.101+1G>A r.spl p.(?) - Both (homozygous) - likely pathogenic g.98986540G>A g.98370077G>A c.101+1G>A - CNGA3_000080 - PubMed: Abdelkader 2018 - - Germline ? - - - - DNA SEQ-NG blood Whole-exome sequencing retinal disease 3 PubMed: Abdelkader 2018 - M yes - - - - - - 1 LOVD
+?/. - c.101+1G>A r.spl p.(?) - Both (homozygous) - likely pathogenic g.98986540G>A g.98370077G>A c.101+1G>A - CNGA3_000080 - PubMed: Abdelkader 2018 - - Germline ? - - - - DNA SEQ-NG blood Whole-exome sequencing retinal disease 5 PubMed: Abdelkader 2018 - M yes - - - - - - 1 LOVD
+/. - c.101+1G>A r.spl? p.? - Unknown - pathogenic g.98986540G>A - CNGA3(NM_001298.2):c.101+1G>A - CNGA3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.101+1G>A r.52_101del p.Val18Serfs*6 - Unknown - NA g.98986540G>A g.98370077G>A - - CNGA3_000080 analysis variant in in vitro mini-gene splicing assay PubMed: Reuter 2021 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.101+1G>A r.(52_101del) p.(Val18Serfs*6) - Unknown ACMG pathogenic (recessive) g.98986540G>A g.98370077G>A - - CNGA3_000080 effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PS1_Very strong, PM2_Moderate, PP5_Supporting, PP3_supporting, PS3_Strong - VCV000208567 - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.101+1G>A r.spl p.Val18Serfs*6 - Parent #1 ACMG pathogenic g.98986540G>A g.98370077G>A - - CNGA3_000080 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072215 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
-/. - c.102-20C>T r.(=) p.(=) - Unknown - benign g.98994130C>T g.98377667C>T CNGA3(NM_001298.3):c.102-20C>T - CNGA3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.102-16A>G r.(=) p.(=) - Unknown - benign g.98994134A>G g.98377671A>G CNGA3(NM_001298.3):c.102-16A>G - CNGA3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.102-16A>G r.(=) p.(=) - Unknown - benign g.98994134A>G g.98377671A>G CNGA3(NM_001298.3):c.102-16A>G - CNGA3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.106_109del r.(?) p.(His36Argfs*136) - Unknown - pathogenic (recessive) g.98994154_98994157del - 2:98994153CCACT>C ENST00000393504.1:c.107_110delACTC (His36ArgfsTer136) - CNGA3_000101 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G006297 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.107_110del r.(?) p.(His36Argfs*136) - Parent #1 - pathogenic g.98994155_98994158del g.98377692_98377695del 107_110delACTC - CNGA3_000112 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+?/. - c.107_110del r.(?) p.(His36Argfs*136) - Unknown - likely pathogenic g.98994155_98994158del g.98377692_98377695del CNGA3 c.107_110delACTC, p.His36ArgfsTer136 - CNGA3_000112 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G006297 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.107_110del r.(?) p.(His36Argfs*136) - Parent #2 - likely pathogenic g.98994155_98994158del g.98377692_98377695del allele 1: c.1279C>T, p.R427C, allele 2: c.107_110del, p.H36RfsX118 - CNGA3_000112 heterozygous PubMed: Thomas 2012 - - Unknown ? - - - - DNA SEQ blood - retinal disease 1 PubMed: Thomas 2012 - ? yes - - - - - - 1 LOVD
+?/. - c.107_110del r.(?) p.(His36Argfs*136) - Parent #2 - likely pathogenic g.98994155_98994158del g.98377692_98377695del allele 1: c.1279C>T, p.R427C, allele 2: c.107_110del, p.H36RfsX118 - CNGA3_000112 heterozygous PubMed: Thomas 2012 - - Unknown ? - - - - DNA SEQ blood - retinal disease 2 PubMed: Thomas 2012 - ? yes - - - - - - 1 LOVD
+/. - c.107_110del r.(?) p.(His36Argfs*136) - Parent #2 ACMG pathogenic g.98994155_98994158del g.98377692_98377695del CNGA3 c.107_110del - CNGA3_000112 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
-?/. - c.110C>T r.(?) p.(Ser37Leu) N-Term Unknown - likely benign g.98994158C>T g.98377695C>T - - CNGA3_000311 ACMG PM2_mod, BP4_sup, BS3_strong PubMed: Solaki 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.110C>T - p.Ser37Leu N-Term Unknown - NA g.98994158C>T g.98377695C>T - - CNGA3_000311 in vitro functional analysis normalized overall luminescence signal (AUC) 0.74±0.04, normalized peak latency 0.85±0.02 PubMed: Solaki 2023 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.128C>A r.(?) p.(Ser43*) - Unknown - pathogenic g.98994176C>A g.98377713C>A c.128C>A, p.(Ser43*) - CNGA3_000167 compound heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14415 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.128C>A r.(?) p.(Ser43*) - Unknown - likely pathogenic g.98994176C>A g.98377713C>A CNGA3 c.62C>G(;)128C>A - CNGA3_000167 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 10668 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+/. 2 c.130_151dup r.(?) p.(Ala51fs*15) - Both (homozygous) - pathogenic g.98994178_98994199del - - - CNGA3_000045 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. Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - F yes Israel Arab-Muslim - - - - 2 Dror Sharon
+/. - c.130_151dup r.(?) p.(Ala51Valfs*16) - Unknown ACMG pathogenic g.98994178_98994199dup - c.130_151dup22 - CNGA3_000045 - PubMed: Sharon 2019 - - Germline - 5/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 5 IRD families - - Israel - - - - - 5 Global Variome, with Curator vacancy
+/. 3 c.130_151dup r.130_151dup p.(Ala51Valfs*16) - Both (homozygous) - pathogenic (recessive) g.98994178_98994199dup g.98377715_98377736dup - - CNGA3_000045 - PubMed: Fadaie 2021 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease ? Fadaie 2021, submitted - F - Israel - - - - - 1 Zeinab Fadaie
+?/. - c.130_151dup r.(?) p.(Ala51ValfsTer16) - Both (homozygous) - likely pathogenic g.98994178_98994199dup g.98377715_98377736dup c.130_151dup22 / c.130 151dup22 - CNGA3_000045 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0177-3 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.130_151dup r.(?) p.(Ala51ValfsTer16) - Both (homozygous) - likely pathogenic g.98994178_98994199dup g.98377715_98377736dup c.130_151dup22 / c.130 151dup22 - CNGA3_000045 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0177-4 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.130_151dup r.(?) p.(Ala51ValfsTer16) - Both (homozygous) - likely pathogenic g.98994178_98994199dup g.98377715_98377736dup c.130_151dup22 I c.130 151dup22 - CNGA3_000045 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0527-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.130_151dup r.(?) p.(Ala51ValfsTer16) - Both (homozygous) - likely pathogenic g.98994178_98994199dup g.98377715_98377736dup c.130_151dup22 I c.130 151dup22 - CNGA3_000045 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0527-2 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.130_151dup r.(?) p.(Ala51ValfsTer16) - Both (homozygous) - likely pathogenic g.98994178_98994199dup g.98377715_98377736dup c.130_151dup22 I c.130 151dup22 - CNGA3_000045 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0527-3 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.130_151dup r.(?) p.(Ala51ValfsTer16) - Both (homozygous) - likely pathogenic g.98994178_98994199dup g.98377715_98377736dup c.130_151dup22 I c.130_151dup22 - CNGA3_000045 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0586-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+/. - c.130_151dup r.(?) p.(Ala51ValfsTer16) - Parent #2 ACMG pathogenic (recessive) g.98994178_98994199dup g.98377715_98377736dup - - CNGA3_000045 ACMG PVS1, PM2_sup, PS4_sup, PM3_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Pat76 PubMed: Andersen 2023 patient - no Denmark - - - - - 1 Susanne Kohl
+?/. - c.139C>T r.(?) p.(Gln47*) - Parent #2 ACMG likely pathogenic g.98994187C>T g.98377724C>T CNGA3 c.139C>T - CNGA3_000251 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
-?/. - c.144G>A r.(?) p.(Pro48=) - Unknown - likely benign g.98994192G>A g.98377729G>A CNGA3(NM_001298.2):c.144G>A (p.P48=), CNGA3(NM_001298.3):c.144G>A (p.P48=) - CNGA3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.144G>A r.(?) p.(Pro48=) - Unknown - likely benign g.98994192G>A - CNGA3(NM_001298.2):c.144G>A (p.P48=), CNGA3(NM_001298.3):c.144G>A (p.P48=) - CNGA3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.147dup r.(?) p.(Ile50Aspfs*10) - Parent #1 ACMG likely pathogenic g.98994195dup g.98377732dup CNGA3 c.147dup - CNGA3_000252 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+?/. 2 c.148_149insG r.(?) p.(Ile50Serfs*10) - Parent #1 - likely pathogenic g.98994196_98994197insG g.98377733_98377734insG allele 1/2: G49fs/W316X - CNGA3_000206 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO220/217 PubMed: Wissinger 2001 - M - Belgium - - - - - 1 LOVD
-?/. - c.151G>A r.(?) p.(Ala51Thr) - Unknown - likely benign g.98994199G>A g.98377736G>A CNGA3(NM_001298.3):c.151G>A (p.A51T) - CNGA3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154A>G r.(?) p.(Met52Val) N-Term Unknown - likely benign g.98994202A>G g.98377739A>G - - CNGA3_000312 ACMG PM2_mod, BP4_sup, BS3_strong PubMed: Solaki 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.154A>G - p.Met52Val N-Term Unknown - NA g.98994202A>G g.98377739A>G - - CNGA3_000312 in vitro functional analysis normalized overall luminescence signal (AUC) 0.78±0.04, normalized peak latency 0.96±0.01 PubMed: Solaki 2023 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.162_163insT r.(?) p.(Arg55*) - Both (homozygous) - likely pathogenic g.98994210_98994211insT g.98377747_98377748insT NM_001298, c.162_163insT, p.Arg55Ter - CNGA3_000156 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:1 PubMed: Ezquerra-Inchausti 2018 Family RP154, II:1 ? no Spain - - - - - 1 LOVD
+?/. - c.162_163insT r.(?) p.(Arg55*) - Both (homozygous) - likely pathogenic g.98994210_98994211insT g.98377747_98377748insT NM_001298, c.162_163insT, p.Arg55Ter - CNGA3_000156 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:3 PubMed: Ezquerra-Inchausti 2018 Family RP154, II:3 ? no Spain - - - - - 1 LOVD
+/. - c.162_163insT r.(?) p.(Arg55*) - Parent #1 ACMG pathogenic g.98994210_98994211insT g.98377747_98377748insT CNGA3 c.162_163insT - CNGA3_000156 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
-?/. - c.198C>T r.(?) p.(Thr66=) - Unknown - likely benign g.98994246C>T - CNGA3(NM_001298.2):c.198C>T (p.T66=), CNGA3(NM_001298.3):c.198C>T (p.T66=) - CNGA3_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.198C>T r.(?) p.(Thr66=) - Unknown - likely benign g.98994246C>T - CNGA3(NM_001298.2):c.198C>T (p.T66=), CNGA3(NM_001298.3):c.198C>T (p.T66=) - CNGA3_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.211G>A r.211g>a p.Ala71Thr - Unknown - NA g.98994259G>A g.98377796G>A - - CNGA3_000301 analysis variant in in vitro mini-gene splicing assay PubMed: Reuter 2021 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.211G>A r.(211g>a) p.(Ala71Thr) N-Term Unknown ACMG likely benign g.98994259G>A g.98377796G>A - - CNGA3_000301 ACMG PM2_mod, BP4_sup, BS3_strong PubMed: Solaki 2023 VCV000858875 - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.211G>A - p.Ala71Thr N-Term Unknown - NA g.98994259G>A g.98377796G>A - - CNGA3_000301 in vitro functional analysis normalized overall luminescence signal (AUC) 0.85±0.00, normalized peak latency 0.89±0.01 PubMed: Solaki 2023 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
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