Full data view for gene GJA8

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_005267.4 transcript reference sequence.

155 entries on 2 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.-1622618_*1555328del r.? p.? Paternal (confirmed) - pathogenic g.145752381_148936712del - - - ACP6_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
./. - c.-1609566_*869589dup r.? p.? Paternal (confirmed) - pathogenic g.145765433_148250973dup - - - ACP6_000002 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. 2 c.9C>G r.(?) p.(Asp3Glu) Paternal (confirmed) - likely pathogenic g.147380091C>G g.147907964C>G - - GJA8_000030 - - - - Germline yes - - - - DNA SEQ - - CTRCT - - - F no China - - - - - 1 Zongfu Cao
+?/. - c.10T>C r.(?) p.(Trp4Arg) Unknown - likely pathogenic (dominant) g.147380092T>C g.147907965T>C - - GJA8_000093 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam27Pat18206 PubMed: Guo 2025 family, several affected F - China - - - - - 2 Johan den Dunnen
?/. - c.19_30del r.(?) p.(Gly8_Leu11del) Unknown - VUS g.147380101_147380112del - GJA8(NM_005267.5):c.19_30delCTGGGGAACATC (p.G8_L11del) - GJA8_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.20T>C r.(?) p.(Leu7Pro) Paternal (confirmed) - likely pathogenic (dominant) g.147380102T>C g.147907975T>C - - GJA8_000079 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam18Pat51 PubMed: Liu 2023 2-generation family, affected father/daughter F - China - - - - - 2 Johan den Dunnen
+?/. 2 c.20T>C r.(?) p.(Leu7Pro) Unknown - likely pathogenic (dominant) g.147380102T>C g.147907975T>C - - GJA8_000079 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam18Pat53 PubMed: Liu 2023 father M - China - - - - - 1 Johan den Dunnen
+/. - c.20T>C r.(?) p.(Leu7Pro) Maternal (confirmed) - pathogenic (dominant) g.147380102T>C g.147907975T>C - - GJA8_000079 - PubMed: Mackay 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - 39-gene panel CTRCT FamB PubMed: Mackay 2014 2-generation family, affected father/3daughters F;M - United States white - - - - 4 Johan den Dunnen
+?/. - c.20T>C r.(?) p.(Leu7Pro) Unknown ACMG likely pathogenic (dominant) g.147380102T>C g.147907975T>C - - GJA8_000079 ACMG PS2_mod, PS4_sup, PM2_sup, PP1, PP3 PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat37 PubMed: Wang 2024 family M - China - - - - - 2 Johan den Dunnen
?/. - c.22G>A r.(?) p.(Gly8Arg) Unknown - VUS g.147380104G>A - GJA8(NM_005267.5):c.22G>A (p.G8R) - GJA8_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.23_34del r.(?) p.(Gly8_Leu11del) Maternal (confirmed) - likely pathogenic (dominant) g.147380105_147380116del g.147907978_147907989del 21_32del - GJA8_000071 - PubMed: Astiazaran 2018 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam5PatIII2 PubMed: Astiazaran 2018 3-generation family, 9 affected (5F, 4M) F - Mexico - - - - - 9 Johan den Dunnen
+?/. - c.23_34del r.(?) p.(Gly8_Leu11del) Maternal (confirmed) - likely pathogenic (dominant) g.147380105_147380116del g.147907978_147907989del 21_32del - GJA8_000071 - PubMed: Astiazaran 2018 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam5PatII2 PubMed: Astiazaran 2018 mother F - Mexico - - - - - 1 Johan den Dunnen
?/. - c.50A>C r.(?) p.(His17Pro) Unknown ACMG VUS g.147380132A>C g.147908005A>C - - GJA8_000094 ACMG PM2_sup, PP1_sup, PP3, PP4 PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat38 PubMed: Wang 2024 family F - China - - - - - 2 Johan den Dunnen
-?/. - c.51C>T r.(?) p.(His17=) Unknown - likely benign g.147380133C>T g.147908006C>T GJA8(NM_005267.4):c.51C>T (p.H17=) - GJA8_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.64G>A r.(?) p.(Gly22Ser) Maternal (confirmed) - likely pathogenic (dominant) g.147380146G>A g.147908019G>A - - GJA8_000061 - PubMed: Fernandez-Alcalde 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam13 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.64G>C r.(?) p.(Gly22Arg) Paternal (confirmed) - likely pathogenic (dominant) g.147380146G>C g.147908019G>C - - GJA8_000067 - PubMed: Amine 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel cataract CTRCT Pat1 PubMed: Amine 2023 3-generation family, several affected (sister, father, paternal family members) F - United States - - - - - 3 Johan den Dunnen
+/. 2 c.68G>C r.(?) p.(Arg23Thr) Parent #1 - pathogenic g.147380150G>C g.147908023G>C - - GJA8_000022 LOVD2: GJ8_00005 PubMed: Willoughby 2003, OMIM:var0004 - - Germline - - - - - DNA SEQ - - CTRCT - - - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.68G>C r.(?) p.(Arg23Thr) Parent #1 ACMG pathogenic (dominant) g.147380150G>C g.147908023G>C 68G>T - GJA8_000022 ACMG PM1, PP1, PP3, PS3 PubMed: Khidiyatova 2023 - rs80358203 Germline - - - - - DNA SEQ - gene panel CTRCT Fam5 PubMed: Khidiyatova 2023 patient - - Russia - - - - - 1 Johan den Dunnen
+/. - c.68G>C r.(?) p.(Arg23Thr) Parent #1 ACMG pathogenic (dominant) g.147380150G>C g.147908023G>C 68G>T - GJA8_000022 ACMG PM1, PP1, PP3, PS3 PubMed: Khidiyatova 2023 - rs80358203 Germline - - - - - DNA SEQ - gene panel CTRCT Fam5 PubMed: Khidiyatova 2023 patient - - Russia - - - - - 1 Johan den Dunnen
+?/. - c.73T>C r.(?) p.(Trp25Arg) Parent #1 ACMG likely pathogenic (dominant) g.147380155T>C g.147908028T>C - - GJA8_000068 incomplete penetrance PubMed: Javadiyan 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel CTRCT CRCH20 PubMed: Javadiyan 2017 4-generation family, 5 affected (3F, 2M) F;M - Australia - - - - - 5 Johan den Dunnen
+?/. - c.77T>C r.(?) p.(Leu26Pro) Unknown - likely pathogenic g.147380159T>C g.147908032T>C c.77T-->C; p.Leu26Pro - GJA8_000053 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - MCOPS9 288 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.89dupT r.(?) p.(Ile31HisfsTer18) Both (homozygous) - pathogenic (recessive) g.147380171dup g.147908044dup 89dupT - GJA8_000072 father unavailable PubMed: Ma 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam14PatII2 PubMed: Ma 2016 2-generation family, 1 affected F yes Australia - - - - - 2 Johan den Dunnen
+?/. - c.101T>C r.(?) p.(Ile34Thr) Paternal (confirmed) ACMG likely pathogenic (dominant) g.147380183T>C g.147908056T>C - - GJA8_000105 ACMG PM2_P, PP2_P, PP3_S PubMed: Lecca 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT FamBPat4 PubMed: Lecca 2024 4-generation family, 7 affected (3F, 4M) F - Italy - - - - - 7 Johan den Dunnen
+?/. - c.101T>C r.(?) p.(Ile34Thr) Unknown ACMG likely pathogenic (dominant) g.147380183T>C g.147908056T>C - - GJA8_000105 ACMG PM2_P, PP2_P, PP3_S PubMed: Lecca 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CTRCT FamBPat5 PubMed: Lecca 2024 father - - Italy - - - - - 1 Johan den Dunnen
-?/. - c.102C>T r.(?) p.(Ile34=) Unknown - likely benign g.147380184C>T - GJA8(NM_005267.4):c.102C>T (p.I34=) - GJA8_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.116C>G r.(?) p.(Thr39Arg) Unknown - likely pathogenic (dominant) g.147380198C>G g.147908071C>G - - GJA8_000095 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam31Pat5782 PubMed: Guo 2025 patient, no family history M - China - - - - - 1 Johan den Dunnen
-?/. - c.117G>A r.(?) p.(Thr39=) Unknown - likely benign g.147380199G>A g.147908072G>A GJA8(NM_005267.4):c.117G>A (p.T39=) - GJA8_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.119C>T r.(?) p.(Ala40Val) Unknown - likely pathogenic (dominant) g.147380201C>T g.147908074C>T - - GJA8_000073 - PubMed: Ma 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam2PatII1 PubMed: Ma 2016 2-generation family, 1 affected, unaffected parents F - Australia - - - - - 1 Johan den Dunnen
?/. - c.126G>C r.(?) p.(Glu42Asp) Unknown - VUS g.147380208G>C - GJA8(NM_005267.5):c.126G>C (p.(Glu42Asp)) - GJA8_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.130G>A r.(?) p.(Val44Met) Unknown - pathogenic (dominant) g.147380212G>A g.147908085G>A - - GJA8_000062 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT WCC2PatIII2 PubMed: Zhang 2018 4-generation family, 6 affected (4F, 2M) F - China - - - - - 6 Johan den Dunnen
+/. - c.130G>A r.(?) p.(Val44Met) Unknown - pathogenic (dominant) g.147380212G>A g.147908085G>A - - GJA8_000062 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT WCC11PatII1 PubMed: Zhang 2018 2-generation family, 1 affected M - China - - - - - 1 Johan den Dunnen
+?/. - c.130G>A r.(?) p.(Val44Met) Unknown - likely pathogenic (dominant) g.147380212G>A g.147908085G>A - - GJA8_000062 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam57Pat6204 PubMed: Guo 2025 family, several affected F - China - - - - - 2 Johan den Dunnen
+?/. - c.130G>A r.(?) p.(Val44Met) Unknown - likely pathogenic (dominant) g.147380212G>A g.147908085G>A - - GJA8_000062 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam57Pat6205 PubMed: Guo 2025 relative F - China - - - - - 1 Johan den Dunnen
+/. 2 c.131T>A r.(?) p.(Val44Glu) Parent #1 - pathogenic g.147380213T>A g.147908086T>A - - GJA8_000023 LOVD2: GJ8_00006 PubMed: Devi 2006, OMIM:var0005 - - Germline - - - - - DNA SEQ - - CTRCT1 - - - - - India - - - - - 1 Johan den Dunnen
+/. - c.133_142del r.(?) p.(Trp45SerfsTer43) Paternal (inferred) ACMG pathogenic (dominant) g.147380215_147380224del g.147908088_147908097del - - GJA8_000080 ACMG PVS1, PM1, PM2 PubMed: Khidiyatova 2023 - - Germline - - - - - DNA SEQ - gene panel CTRCT Fam6 PubMed: Khidiyatova 2023 patient - - Russia Bashkir - - - - 1 Johan den Dunnen
+/. - c.134G>A r.(?) p.(Trp45Ter) Parent #1 - pathogenic (recessive) g.147380216G>A g.147908089G>A - - GJA8_000081 - PubMed: Liu 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam47Pat127 PubMed: Liu 2023 family, 3 affected M - China - - - - - 3 Johan den Dunnen
+?/. - c.134G>C r.(?) p.(Trp45Ser) Unknown - likely pathogenic g.147380216G>C g.147908089G>C GJA8(NM_005267.4):c.134G>C(p.W45S) - GJA8_000009 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 152 - - - DNA SEQ-NG-I blood - ? WHP52 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+/. - c.134G>C r.(?) p.(Trp45Ser) Maternal (confirmed) ACMG pathogenic (dominant) g.147380216G>C g.147908089G>C - - GJA8_000009 - PubMed: Javadiyan 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel CTRCT CSA162 PubMed: Javadiyan 2017 3-generation family, affected grandmother/mother/daughter F - Australia - - - - - 3 Johan den Dunnen
+/. - c.134G>C r.(?) p.(Trp45Ser) Unknown - pathogenic (dominant) g.147380216G>C g.147908089G>C - - GJA8_000009 - PubMed: Ma 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam20PatII2 PubMed: Ma 2016 2-generation family, 1 affected, unaffected parents F - Australia - - - - - 1 Johan den Dunnen
+?/. 2 c.134G>C r.(?) p.(Trp45Ser) Unknown - likely pathogenic (dominant) g.147380216G>C g.147908089G>C - - GJA8_000009 - PubMed: Liu 2023 rs864309688 rs864309688 Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam1Pat1 PubMed: Liu 2023 - M - China - - - - - 1 Johan den Dunnen
+/. - c.134G>T r.(?) p.(Trp45Leu) Unknown - pathogenic g.147380216G>T g.147908089G>T GJA8 c.134G>T, p.(Gln155Ter) - GJA8_000056 heterozygous PubMed: Bell 2021 - - De novo yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 34 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.134G>T r.(?) p.(Trp45Leu) Unknown - pathogenic (dominant) g.147380216G>T g.147908089G>T - - GJA8_000056 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam26333 PubMed: Jackson 2020 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.134G>T r.(?) p.(Trp45Leu) Unknown - likely pathogenic (dominant) g.147380216G>T g.147908089G>T - - GJA8_000056 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam119Pat320 PubMed: Liu 2023 3-generation family, 4 affected (F, 3M) F - China - - - - - 4 Johan den Dunnen
+?/. - c.134G>T r.(?) p.(Trp45Leu) Paternal (confirmed) - likely pathogenic (dominant) g.147380216G>T g.147908089G>T - - GJA8_000056 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam119Pat321 PubMed: Liu 2023 grandson M - China - - - - - 1 Johan den Dunnen
+/. - c.134G>T r.(?) p.(Trp45Leu) Unknown - pathogenic g.147380216G>T - GJA8(NM_005267.4):c.134G>T (p.(Trp45Leu)) - GJA8_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.134G>T r.(?) p.(Trp45Leu) Unknown - likely pathogenic (dominant) g.147380216G>T g.147908089G>T - - GJA8_000056 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam67Pat19984 PubMed: Guo 2025 family, several affected F - China - - - - - 2 Johan den Dunnen
+?/. - c.134G>T r.(?) p.(Trp45Leu) Unknown - likely pathogenic (dominant) g.147380216G>T g.147908089G>T - - GJA8_000056 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam67Pat19986 PubMed: Guo 2025 relative F - China - - - - - 1 Johan den Dunnen
+?/. - c.134G>T r.(?) p.(Trp45Leu) Unknown - likely pathogenic (dominant) g.147380216G>T g.147908089G>T - - GJA8_000056 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam78Pat25151 PubMed: Guo 2025 family, several affected M - China - - - - - 2 Johan den Dunnen
+?/. - c.134G>T r.(?) p.(Trp45Leu) Unknown - likely pathogenic (dominant) g.147380216G>T g.147908089G>T - - GJA8_000056 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam78Pat25153 PubMed: Guo 2025 relative M - China - - - - - 1 Johan den Dunnen
+?/. - c.136G>A r.(?) p.(Gly46Arg) Paternal (confirmed) - likely pathogenic (dominant) g.147380218G>A g.147908091G>A - - GJA8_000074 - PubMed: Fan 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam9 PubMed: Fan 2020 2-generation family, affected father/sib - - China - - - - - 2 Johan den Dunnen
+?/. 2 c.136G>A r.(?) p.(Gly46Arg) Paternal (confirmed) - likely pathogenic (dominant) g.147380218G>A g.147908091G>A - - GJA8_000074 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam137Pat365 PubMed: Liu 2023 2-generation family, affected father/daughter F - China - - - - - 2 Johan den Dunnen
+?/. 2 c.136G>A r.(?) p.(Gly46Arg) Unknown - likely pathogenic (dominant) g.147380218G>A g.147908091G>A - - GJA8_000074 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam137Pat367 PubMed: Liu 2023 father M - China - - - - - 1 Johan den Dunnen
+?/. - c.136G>A r.(?) p.(Gly46Arg) Unknown - likely pathogenic (dominant) g.147380218G>A g.147908091G>A - - GJA8_000074 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam30Pat41082 PubMed: Guo 2025 family, several affected F - China - - - - - 2 Johan den Dunnen
+/. 2 c.139G>A r.(?) p.(Asp47Asn) Parent #1 - pathogenic g.147380221G>A g.147908094G>A - - GJA8_000025 LOVD2: GJ8_00008 PubMed: He 2011, OMIM:var0007 - - Germline - - - - - DNA SEQ - - CTRCT1 - - - - - China - - - - - 1 Johan den Dunnen
+/. 2 c.139G>C r.(?) p.(Asp47His) Unknown - pathogenic (dominant) g.147380221G>C g.147908094G>C - - GJA8_000082 - PubMed: Liu 2023 rs121434643 rs121434643 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam59Pat163 PubMed: Liu 2023 - F - China - - - - - 1 Johan den Dunnen
+?/. - c.140A>G r.(?) p.(Asp47Gly) Unknown - likely pathogenic g.147380222A>G g.147908095A>G - - GJA8_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.142G>A r.(?) p.(Glu48Lys) Parent #1 - pathogenic g.147380224G>A g.147908097G>A - - GJA8_000020 LOVD2: GJ8_00003 PubMed: Berry 1999, OMIM:var0002 - - Germline - - - - - DNA SEQ - - CTRCT1 - - - - - Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.143A>G r.(?) p.(Glu48Gly) Maternal (confirmed) ACMG likely pathogenic (dominant) g.147380225A>G g.147908098A>G - - GJA8_000083 ACMG PM1, PM2, PM5, PP3 PubMed: Khidiyatova 2023 - - Germline - - - - - DNA SEQ - gene panel CTRCT Fam8 PubMed: Khidiyatova 2023 patient - - Russia - - - - - 1 Johan den Dunnen
+/. - c.143A>G r.(?) p.(Glu48Gly) Unknown ACMG pathogenic (dominant) g.147380225A>G g.147908098A>G - - GJA8_000083 ACMG PS2, PM2_sup, PM5, PP3, PP4 PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat39 PubMed: Wang 2024 patient, no family history F - China - - - - - 1 Johan den Dunnen
+/. 2 c.145C>G r.(?) p.(Gln49Glu) Paternal (confirmed) - pathogenic g.147380227C>G g.147908100C>G - - GJA8_000001 - - - - Germline - - - - - DNA SEQ - - CTRCT - - 1 familie, 3 patients M - China Han - - - - 1 Juhua Yang
?/. - c.145C>G r.(?) p.(Gln49Glu) Unknown - VUS g.147380227C>G - - - GJA8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.151G>A r.(?) p.(Asp51Asn) Unknown - likely pathogenic (dominant) g.147380233G>A g.147908106G>A - - GJA8_000075 - PubMed: Ma 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam45PatII1 PubMed: Ma 2016 2-generation family, 1 affected, unaffected parents M - Australia - - - - - 1 Johan den Dunnen
+?/. - c.151G>A r.(?) p.(Asp51Asn) Unknown - likely pathogenic (dominant) g.147380233G>A g.147908106G>A - - GJA8_000075 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam60Pat16017 PubMed: Guo 2025 family, several affected M - China - - - - - 1 Johan den Dunnen
+?/. - c.151G>A r.(?) p.(Asp51Asn) Unknown - likely pathogenic (dominant) g.147380233G>A g.147908106G>A - - GJA8_000075 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam60Pat16016 PubMed: Guo 2025 relative M - China - - - - - 1 Johan den Dunnen
+?/. - c.154T>C r.(?) p.(Phe52Leu) Unknown - likely pathogenic g.147380236T>C g.147908109T>C GJA8(NM_005267.4):c.154T>C(p.F52L) - GJA8_000058 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 137 - - - DNA SEQ-NG-I blood - ? WHP37 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+?/. - c.154T>C r.(?) p.(Phe52Leu) Unknown ACMG likely pathogenic (dominant) g.147380236T>C g.147908109T>C - - GJA8_000058 ACMG PM1 PM2 PP3 PP4 PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam1PatII1 PubMed: Li 2019 2-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
?/. - c.157G>T r.(?) p.(Val53Leu) Unknown - VUS g.147380239G>T - GJA8(NM_005267.4):c.157G>T (p.(Val53Leu)) - GJA8_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.163A>G r.(?) p.(Asn55Asp) Unknown - likely pathogenic g.147380245A>G g.147908118A>G GJA8(NM_005267.4):c.163A>G(p.N55D) - GJA8_000059 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 173 - - - DNA SEQ-NG-I blood - ? WHP73 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+?/. - c.163A>G r.(?) p.(Asn55Asp) Unknown - likely pathogenic (dominant) g.147380245A>G g.147908118A>G - - GJA8_000059 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam26Pat7811 PubMed: Guo 2025 patient, no family history F - China - - - - - 1 Johan den Dunnen
?/. - c.163A>G r.(?) p.(Asn55Asp) Unknown ACMG VUS g.147380245A>G g.147908118A>G - - GJA8_000059 ACMG PS2_mod, PS4_sup, PM2_sup, PP3 PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat40 PubMed: Wang 2024 patient, no family history M - China - - - - - 1 Johan den Dunnen
?/. - c.167C>T r.(?) p.(Thr56Ile) Unknown - VUS g.147380249C>T g.147908122C>T - - GJA8_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.175C>T r.(?) p.(Pro59Ser) Unknown - likely pathogenic (dominant) g.147380257C>T g.147908130C>T - - GJA8_000096 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam29Pat9736 PubMed: Guo 2025 family, several affected F - China - - - - - 2 Johan den Dunnen
+?/. - c.179G>A r.(?) p.(Gly60Asp) Paternal (inferred) ACMG likely pathogenic (dominant) g.147380261G>A g.147908134G>A - - GJA8_000084 ACMG PM1, PM2, PP3 PubMed: Khidiyatova 2023 - - Germline - - - - - DNA SEQ - gene panel CTRCT Fam7 PubMed: Khidiyatova 2023 patient - - Russia - - - - - 1 Johan den Dunnen
+?/. - c.184G>A r.(?) p.(Glu62Lys) Unknown - likely pathogenic (dominant) g.147380266G>A g.147908139G>A - - GJA8_000097 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam32Pat22328 PubMed: Guo 2025 family, several affected F - China - - - - - 2 Johan den Dunnen
+?/. - c.197A>G r.(?) p.(Tyr66Cys) Unknown - likely pathogenic (dominant) g.147380279A>G g.147908152A>G - - GJA8_000098 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam71Pat22910 PubMed: Guo 2025 family, several affected M - China - - - - - 2 Johan den Dunnen
+?/. - c.197A>G r.(?) p.(Tyr66Cys) Unknown - likely pathogenic (dominant) g.147380279A>G g.147908152A>G - - GJA8_000098 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam71Pat22912 PubMed: Guo 2025 relative F - China - - - - - 1 Johan den Dunnen
+/. - c.200A>G r.(?) p.(Asp67Gly) Parent #1 - pathogenic (dominant) g.147380282A>G g.147908155A>G - - GJA8_000076 - PubMed: Reis 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat3 PubMed: Reis 2013 family, 2 affected - - United States white - - - - 1 Johan den Dunnen
?/. - c.206C>T r.(?) p.(Ala69Val) Unknown ACMG VUS g.147380288C>T g.147908161C>T - - GJA8_000099 ACMG PM2_sup, PM5, PP3, PP4 PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat41 PubMed: Wang 2024 patient, no family history F - China - - - - - 1 Johan den Dunnen
+?/. - c.208T>C r.(?) p.(Phe70Leu) Unknown - likely pathogenic (dominant) g.147380290T>C g.147908163T>C - - GJA8_000100 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam33Pat27261 PubMed: Guo 2025 patient, no family history M - China - - - - - 1 Johan den Dunnen
+/. 2 c.218C>T r.(?) p.(Ser73Phe) Parent #1 - pathogenic g.147380300C>T g.147908173C>T - - GJA8_000007 - PubMed: Hansen 2009 - - Germline - - - - - DNA SEQ - - CTRCT CC00145 PubMed: Hansen 2009 4-generation family, 14 affected (8F, 6M) F;M - Denmark - - - - - 14 Johan den Dunnen
+?/. - c.226C>G r.(?) p.(Arg76Gly) Unknown - likely pathogenic (dominant) g.147380308C>G g.147908181C>G - - GJA8_000063 - PubMed: Fernandez-Alcalde 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam12 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.226C>T r.(?) p.(Arg76Cys) Unknown - likely pathogenic (dominant) g.147380308C>T g.147908181C>T - - GJA8_000064 - PubMed: Fernandez-Alcalde 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam15 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.226C>T r.(?) p.(Arg76Cys) Parent #1 - pathogenic (dominant) g.147380308C>T g.147908181C>T - - GJA8_000064 - PubMed: Reis 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat11 PubMed: Reis 2013 family, 3 affected - - United States white - - - - 1 Johan den Dunnen
?/. - c.226C>T r.(?) p.(Arg76Cys) Parent #1 - VUS g.147380308C>T g.147908181C>T - - GJA8_000064 VUS PS4sup, PM2, PP3 PubMed: Kessel 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT CC0000744 PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
+?/. - c.226C>T r.(?) p.(Arg76Cys) Unknown - likely pathogenic (dominant) g.147380308C>T g.147908181C>T - - GJA8_000064 father not available PubMed: Reichsteiner 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CTRCT Fam10PatII1 PubMed: Reichsteiner 2021 2-generation family, 1 affected, unaffected non-carrier mother F - Switzerland - - - - - 1 Johan den Dunnen
+/. - c.227G>A r.(?) p.(Arg76His) Unknown - pathogenic g.147380309G>A - GJA8(NM_005267.4):c.227G>A (p.(Arg76His)) - GJA8_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.227G>A r.(?) p.(Arg76His) Unknown - pathogenic g.147380309G>A - GJA8(NM_005267.4):c.227G>A (p.(Arg76His)) - GJA8_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.250T>A r.(?) p.(Phe84Ile) Unknown - likely benign g.147380332T>A g.147908205T>A - - GJA8_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.262C>T r.(?) p.(Pro88Ser) Parent #1 - pathogenic g.147380344C>T g.147908217C>T - - GJA8_000019 LOVD2: GJ8_00002 PubMed: Shiels 1998, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTRCT1 - - - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.263C>T r.(?) p.(Pro88Leu) Unknown ACMG VUS g.147380345C>T g.147908218C>T GJA8 c.263C>T p.(Pro88Leu) het - GJA8_000055 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 15018151 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
./. - c.290T>G r.(?) p.(Val97Gly) Unknown - pathogenic g.147380372T>G g.147908245T>G - - GJA8_000026 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.290T>G r.(?) p.(Val97Gly) Unknown - pathogenic (dominant) g.147380372T>G g.147908245T>G - - GJA8_000026 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam26334 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.293A>C r.(?) p.(His98Pro) Paternal (confirmed) - pathogenic (dominant) g.147380375A>C g.147908248A>C - - GJA8_000085 - PubMed: Mackay 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - 39-gene panel CTRCT FamC PubMed: Mackay 2014 2-generation family, affected father/daughter F;M - United States white - - - - 2 Johan den Dunnen
+?/. 2 c.293A>G r.(?) p.(His98Arg) Parent #1 - likely pathogenic g.147380375A>G g.147908248A>G - - GJA8_000028 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected mother and maternal grandfather F no - - - - - - 3 Johan den Dunnen
?/. - c.293A>G r.(?) p.(His98Arg) Unknown ACMG VUS g.147380375A>G g.147908248A>G GJA8 c.293A>G p.(His98Arg) het - GJA8_000028 error in annotation, c.997C>T causes p.(Leu333Phe) and not p.(Leu333Trp) in all transcripts; heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 144 genes panel tested retinal disease 11012212 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.302G>T r.(?) p.(Arg101Leu) Unknown - likely pathogenic (dominant) g.147380384G>T g.147908257G>T - - GJA8_000101 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam54Pat15993 PubMed: Guo 2025 family, several affected F - China - - - - - 2 Johan den Dunnen
+?/. - c.302G>T r.(?) p.(Arg101Leu) Unknown - likely pathogenic (dominant) g.147380384G>T g.147908257G>T - - GJA8_000101 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam54Pat17474 PubMed: Guo 2025 relative F - China - - - - - 1 Johan den Dunnen
-?/. - c.333G>A r.(?) p.(Ala111=) Unknown - likely benign g.147380415G>A g.147908288G>A GJA8(NM_005267.4):c.333G>A (p.A111=) - GJA8_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.339G>C r.(?) p.(Glu113Asp) Unknown - likely benign g.147380421G>C - GJA8(NM_005267.4):c.339G>C (p.(Glu113Asp)) - GJA8_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.367G>A r.(?) p.(Gly123Ser) Unknown - likely pathogenic (dominant) g.147380449G>A g.147908322G>A - - GJA8_000102 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam88Pat6071 PubMed: Guo 2025 family, several affected M - China - - - - - 2 Johan den Dunnen
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