Unique variants in the GJA8 gene

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.

44 entries on 1 page. Showing entries 1 - 44.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. 1 - c.-1622618_*1555328del r.? p.? - pathogenic g.145752381_148936712del - - - ACP6_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. 1 - c.-1609566_*869589dup r.? p.? - pathogenic g.145765433_148250973dup - - - ACP6_000002 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
+?/. 1 2 c.9C>G r.(?) p.(Asp3Glu) - likely pathogenic g.147380091C>G g.147907964C>G - - GJA8_000030 - - - - Germline yes - - - - Zongfu Cao
?/. 1 - c.19_30del r.(?) p.(Gly8_Leu11del) - VUS g.147380101_147380112del - GJA8(NM_005267.4):c.19_30delCTGGGGAACATC (p.G8_L11del) - GJA8_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.22G>A r.(?) p.(Gly8Arg) - VUS g.147380104G>A - GJA8(NM_005267.4):c.22G>A (p.G8R) - GJA8_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.51C>T r.(?) p.(His17=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.68G>C r.(?) p.(Arg23Thr) - pathogenic g.147380150G>C g.147908023G>C - - GJA8_000022 LOVD2: GJ8_00005 PubMed: Willoughby 2003, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.77T>C r.(?) p.(Leu26Pro) - likely pathogenic g.147380159T>C g.147908032T>C c.77T-->C; p.Leu26Pro - GJA8_000053 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - LOVD
-?/. 1 - c.102C>T r.(?) p.(Ile34=) - likely benign g.147380184C>T - GJA8(NM_005267.4):c.102C>T (p.I34=) - GJA8_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.117G>A r.(?) p.(Thr39=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.131T>A r.(?) p.(Val44Glu) - pathogenic g.147380213T>A g.147908086T>A - - GJA8_000023 LOVD2: GJ8_00006 PubMed: Devi 2006, OMIM:var0005 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.134G>C r.(?) p.(Trp45Ser) - 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 - - - LOVD
+/. 1 2 c.139G>A r.(?) p.(Asp47Asn) - pathogenic g.147380221G>A g.147908094G>A - - GJA8_000025 LOVD2: GJ8_00008 PubMed: He 2011, OMIM:var0007 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.140A>G r.(?) p.(Asp47Gly) - likely pathogenic g.147380222A>G g.147908095A>G - - GJA8_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 2 c.142G>A r.(?) p.(Glu48Lys) - pathogenic g.147380224G>A g.147908097G>A - - GJA8_000020 LOVD2: GJ8_00003 PubMed: Berry 1999, OMIM:var0002 - - Germline - - - - - Johan den Dunnen
+/., ?/. 2 2 c.145C>G r.(?) p.(Gln49Glu) - pathogenic, VUS g.147380227C>G g.147908100C>G - - GJA8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Juhua Yang, VKGL-NL_Nijmegen
+?/. 1 - c.154T>C r.(?) p.(Phe52Leu) - likely pathogenic g.147380236T>C g.147908109T>C GJA8(NM_005267.4):c.154T>C(p.F52L) - GJA8_000051 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 137 - - - LOVD
+?/. 1 - c.163A>G r.(?) p.(Asn55Asp) - likely pathogenic g.147380245A>G g.147908118A>G GJA8(NM_005267.4):c.163A>G(p.N55D) - GJA8_000052 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 173 - - - LOVD
?/. 1 - c.167C>T r.(?) p.(Thr56Ile) - VUS g.147380249C>T g.147908122C>T - - GJA8_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.227G>A r.(?) p.(Arg76His) - pathogenic g.147380309G>A - - - GJA8_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.250T>A r.(?) p.(Phe84Ile) - VUS g.147380332T>A g.147908205T>A - - GJA8_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 2 c.262C>T r.(?) p.(Pro88Ser) - pathogenic g.147380344C>T g.147908217C>T - - GJA8_000019 LOVD2: GJ8_00002 PubMed: Shiels 1998, OMIM:var0001 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.263C>T r.(?) p.(Pro88Leu) ACMG VUS g.147380345C>T g.147908218C>T GJA8 c.263C>T p.(Pro88Leu) het - GJA8_000055 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD
./. 1 - c.290T>G r.(?) p.(Val97Gly) - pathogenic g.147380372T>G g.147908245T>G - - GJA8_000026 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+?/., ?/. 2 2 c.293A>G r.(?) p.(His98Arg) ACMG likely pathogenic, VUS g.147380375A>G g.147908248A>G GJA8 c.293A>G p.(His98Arg) het - GJA8_000028 1 more item PubMed: Gillespie 2014, Journal: Gillespie 2014, PubMed: Lenassi 2020 - - Germline ? - - - - Johan den Dunnen
-?/. 1 - c.333G>A r.(?) p.(Ala111=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.385G>A r.(?) p.(Val129Ile) - likely benign g.147380467G>A g.147908340G>A GJA8(NM_005267.4):c.385G>A (p.V129I) - GJA8_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.477C>T r.(?) p.(Thr159=) - likely benign g.147380559C>T g.147908432C>T GJA8(NM_005267.4):c.477C>T (p.T159=) - GJA8_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.553C>T r.(?) p.(Arg185Trp) - VUS g.147380635C>T g.147908508C>T GJA8(NM_005267.4):c.553C>T (p.R185W) - GJA8_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/., +?/. 2 2 c.569A>G r.(?) p.(Asn190Ser) - likely pathogenic, pathogenic g.147380651A>G g.147908524A>G - - GJA8_000018 - PubMed: Huang 2015 - - Germline - - - - - Juhua Yang
+/. 2 2 c.593G>A r.(?) p.(Arg198Gln) - pathogenic g.147380675G>A g.147908548G>A - - GJA8_000024 LOVD2: GJ8_00007 PubMed: Devi 2006, OMIM:var0006 - - De novo, Germline - - - - - Johan den Dunnen, Ivan Prokudin
-?/. 2 - c.658A>G r.(?) p.(Asn220Asp) - likely benign g.147380740A>G g.147908613A>G GJA8(NM_005267.4):c.658A>G (p.N220D, p.(Asn220Asp)) - GJA8_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+?/. 1 - c.667G>A r.(?) p.(Glu223Lys) - likely pathogenic g.147380749G>A g.147908622G>A c.667G>A, p.(Glu223Lys) - GJA8_000054 heterozygous PubMed: Wang 2019 - - Germline ? - - - - LOVD
?/. 1 - c.727C>T r.(?) p.(Pro243Ser) - VUS g.147380809C>T - - - GJA8_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., -?/. 3 2 c.741T>G r.(?) p.(Ile247Met) - likely benign, pathogenic g.147380823T>G g.147908696T>G GJA8(NM_005267.4):c.741T>G (p.I247M, p.(Ile247Met)) - GJA8_000021 LOVD2: GJ8_00004, VKGL data sharing initiative Nederland PubMed: Polyakov 2001, OMIM:var0003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam
+?/. 1 - c.773C>T r.(?) p.(Ser258Phe) - likely pathogenic g.147380855C>T g.147908728C>T GJA8(NM_005267.4):c.773C>T(p.S258F) - GJA8_000013 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 189 - - - LOVD
?/. 1 2 c.827C>T r.(?) p.(Ser276Phe) - VUS g.147380909C>T g.147908782C>T - - GJA8_000015 - - - rs45619342 Germline - - - - - Johan den Dunnen
+?/. 1 2 c.914G>A r.(?) p.(Ser305Asn) - likely pathogenic g.147380996G>A g.147908869G>A - - GJA8_000029 - - - - Germline yes - - - - Zongfu Cao
-?/. 1 - c.1095C>T r.(?) p.(Ala365=) - likely benign g.147381177C>T - GJA8(NM_005267.4):c.1095C>T (p.A365=) - GJA8_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1105G>T r.(?) p.(Gly369Trp) - VUS g.147381187G>T - GJA8(NM_005267.4):c.1105G>T (p.G369W) - GJA8_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1129G>A r.(?) p.(Val377Met) - likely benign g.147381211G>A - GJA8(NM_005267.4):c.1129G>A (p.V377M) - GJA8_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1161G>T r.(?) p.(Gln387His) - likely benign g.147381243G>T g.147909116G>T GJA8(NM_005267.4):c.1161G>T (p.(Gln387His)) - GJA8_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1162T>G r.(?) p.(Ser388Ala) - likely benign g.147381244T>G g.147909117T>G GJA8(NM_005267.4):c.1162T>G (p.(Ser388Ala)) - GJA8_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 2 c.1273C>T r.(?) p.(Arg425*) - pathogenic g.147381355C>T g.147909228C>T - - GJA8_000027 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - Johan den Dunnen
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