All variants in the GJC2 gene


This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
Information The variants shown are described using the NM_020435.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

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     
-?/. - c.-1303G>C r.(?) p.(=) - likely benign g.228336425G>C g.228148724G>C GUK1(NM_000858.5):c.*27G>C (p.(=)) - GUK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-144_-142del r.(?) p.(=) - VUS g.228337584_228337586del g.228149883_228149885del - - GJC2_000040 - - - - Germline/De novo (untested) - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.-19-3_-19-2insCGGGG r.spl? p.? - likely benign g.228345438_228345439insCGGGG - GJC2(NM_020435.3):c.-19-2_-19-1insGGGGC - GJC2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-14G>C r.(?) p.(=) - benign g.228345446G>C g.228157745G>C GJC2(NM_020435.3):c.-14G>C - GJC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.-1_4del r.? p.? - VUS g.228345459_228345463del g.228157758_228157762del GJC2(NM_020435.3):c.-1_4del (p.?) - GJC2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.30G>C r.(?) p.(Thr10=) - likely benign g.228345489G>C g.228157788G>C GJC2(NM_020435.3):c.30G>C (p.T10=) - GJC2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.84C>A r.(?) p.(Leu28=) - likely benign g.228345543C>A - GJC2(NM_020435.3):c.84C>A (p.L28=) - GJC2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.108C>G r.(?) p.(Ile36Met) - pathogenic g.228345567C>G g.228157866C>G 99C>G (I33M) - GJC2_000020 - PubMed: Orthmann-Murphy 2009, OMIM:var0008 - - Unknown ? - - 0 - Michel van Geel
+/. 2 c.108C>G r.(?) p.(Ile36Met) - pathogenic g.228345567C>G g.228157866C>G 99C>G (I33M) - GJC2_000020 - PubMed: Orthmann-Murphy 2009, OMIM:var0008 - - Unknown ? - - 0 - Michel van Geel
-/. - c.108C>T r.(?) p.(Ile36=) - benign g.228345567C>T g.228157866C>T GJC2(NM_020435.3):c.108C>T (p.I36=) - GJC2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.138C>G r.(?) p.(Ile46Met) - VUS g.228345597C>G g.228157896C>G GJC2(NM_020435.3):c.138C>G (p.I46M) - GJC2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 c.138C>G r.(?) p.(Ile46Met) - likely pathogenic g.228345597C>G g.228157896C>G - - GJC2_000021 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.143C>T r.(?) p.(Ser48Leu) - pathogenic g.228345602C>T g.228157901C>T - - GJC2_000024 - PubMed: Ferrell 2010, OMIM:var0009 - - Unknown ? - - 0 - Michel van Geel
+/. - c.143C>T r.(?) p.(Ser48Leu) - pathogenic g.228345602C>T g.228157901C>T GJC2(NM_020435.3):c.143C>T (p.S48L) - GJC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.147C>T r.(?) p.(Asp49=) - likely benign g.228345606C>T g.228157905C>T GJC2(NM_020435.3):c.147C>T (p.D49=) - GJC2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 2 c.268C>T r.(?) p.(Pro90Ser) - pathogenic g.228345727C>T g.228158026C>T - - GJC2_000001 - PubMed: Uhlenberg 2004, OMIM:var0002 - - Germline yes - - 0 - Michel van Geel
+/. - c.310del r.(?) p.(Arg104ValfsTer106) - pathogenic g.228345769del - GJC2(NM_020435.3):c.310delC (p.R104Vfs*106) - GJC2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.331C>T r.(?) p.(Arg111Cys) - VUS g.228345790C>T - GJC2(NM_020435.4):c.331C>T (p.R111C) - GJC2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.400G>A r.(?) p.(Gly134Ser) - likely benign g.228345859G>A g.228158158G>A GJC2(NM_020435.3):c.400G>A (p.G134S) - GJC2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.402C>G r.(?) p.(Gly134=) - likely benign g.228345861C>G - GJC2(NM_020435.3):c.402C>G (p.G134=) - GJC2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.445G>A r.(?) p.(Gly149Ser) - likely benign g.228345904G>A g.228158203G>A GJC2(NM_020435.3):c.445G>A (p.G149S) - GJC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.448C>G r.(?) p.(Leu150Val) - VUS g.228345907C>G - GJC2(NM_020435.3):c.448C>G (p.(Leu150Val)) - GJC2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.452G>T r.(?) p.(Gly151Val) - likely benign g.228345911G>T g.228158210G>T GJC2(NM_020435.3):c.452G>T (p.G151V) - GJC2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.462G>A r.(?) p.(Glu154=) - likely benign g.228345921G>A g.228158220G>A GJC2(NM_020435.3):c.462G>A (p.E154=) - GJC2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.472_474del r.(?) p.(Glu158del) - benign g.228345931_228345933del g.228158230_228158232del GJC2(NM_020435.3):c.472_474delGAG (p.E158del) - GJC2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 c.508del r.(?) p.(Glu170ArgfsTer40) - pathogenic g.228345967del g.228158266del - - GJC2_000064 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
-/. - c.528G>A r.(?) p.(Glu176=) - benign g.228345987G>A g.228158286G>A GJC2(NM_020435.3):c.528G>A (p.E176=) - GJC2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.556G>T r.(?) p.(Gly186Cys) - likely benign g.228346015G>T g.228158314G>T GJC2(NM_020435.3):c.556G>T (p.G186C), GJC2(NM_020435.4):c.556G>T (p.G186C) - GJC2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.556G>T r.(?) p.(Gly186Cys) - VUS g.228346015G>T g.228158314G>T GJC2(NM_020435.3):c.556G>T (p.G186C), GJC2(NM_020435.4):c.556G>T (p.G186C) - GJC2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.575C>G r.(?) p.(Pro192Arg) - likely benign g.228346034C>G g.228158333C>G GJC2(NM_020435.3):c.575C>G (p.P192R, p.(Pro192Arg)) - GJC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.575C>G r.(?) p.(Pro192Arg) - likely benign g.228346034C>G g.228158333C>G GJC2(NM_020435.3):c.575C>G (p.P192R, p.(Pro192Arg)) - GJC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.575C>G r.(?) p.(Pro192Arg) - likely benign g.228346034C>G g.228158333C>G GJC2(NM_020435.3):c.575C>G (p.P192R, p.(Pro192Arg)) - GJC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.594C>T r.(?) p.(His198=) - benign g.228346053C>T g.228158352C>T GJC2(NM_020435.3):c.594C>T (p.H198=) - GJC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.607C>T r.(?) p.(Arg203Cys) - VUS g.228346066C>T g.228158365C>T GJC2(NM_020435.3):c.607C>T (p.R203C) - GJC2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.623G>T r.(?) p.(Gly208Val) - VUS g.228346082G>T g.228158381G>T - - GJC2_000041 - - - - Germline/De novo (untested) - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.634G>A r.(?) p.(Val212Met) - likely benign g.228346093G>A g.228158392G>A GJC2(NM_020435.4):c.634G>A (p.V212M) - GJC2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 c.695_696insG r.(?) p.(fs*) - pathogenic g.228346154_228346155insG g.228158453_228158454insG - - GJC2_000015 - PubMed: Henneke 2008, OMIM:var0007 - - Unknown ? - - 0 - Michel van Geel
+/. 2 c.695_696insG r.(?) p.(fs*) - pathogenic g.228346154_228346155insG g.228158453_228158454insG - - GJC2_000015 - PubMed: Henneke 2008, OMIM:var0007 - - Unknown ? - - 0 - Michel van Geel
+/. 2 c.695_696insG r.(?) p.(fs*) - pathogenic g.228346154_228346155insG g.228158453_228158454insG - - GJC2_000015 - PubMed: Henneke 2008, OMIM:var0007 - - Unknown ? - - 0 - Michel van Geel
+/. 2 c.695_696insG r.(?) p.(fs*) - pathogenic g.228346154_228346155insG g.228158453_228158454insG - - GJC2_000015 - PubMed: Henneke 2008, OMIM:var0007 - - Unknown ? - - 0 - Michel van Geel
?/. - c.697C>G r.(?) p.(Leu233Val) - VUS g.228346156C>G g.228158455C>G GJC2(NM_020435.3):c.697C>G (p.L233V) - GJC2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.718C>T r.(?) p.(Arg240*) - pathogenic g.228346177C>T g.228158476C>T - - GJC2_000003 - PubMed: Uhlenberg 2004, OMIM:var0004 - - Germline yes - - 0 - Michel van Geel
+/. - c.718C>T r.(?) p.(Arg240Ter) - pathogenic g.228346177C>T g.228158476C>T GJC2(NM_020435.3):c.718C>T (p.R240*) - GJC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.718C>T r.(?) p.(Arg240Ter) - pathogenic g.228346177C>T g.228158476C>T GJC2(NM_020435.3):c.718C>T (p.R240*) - GJC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.740G>A r.(?) p.(Arg247His) - VUS g.228346199G>A - GJC2(NM_020435.3):c.740G>A (p.R247H) - GJC2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.755A>G r.(?) p.(His252Arg) ACMG likely pathogenic (recessive) g.228346214A>G g.228158513A>G - - GJC2_000059 ACMG PM1,PM2,PP3,PP1 PubMed: Anazi 2017 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.778C>T r.(?) p.(Arg260Cys) - pathogenic g.228346237C>T g.228158536C>T - - GJC2_000027 - PubMed: Ferrell 2010, OMIM:var0010 - - Unknown ? - - 0 - Michel van Geel
+/. 2 c.814T>G r.(?) p.(Tyr272Asp) - pathogenic g.228346273T>G g.228158572T>G - - GJC2_000004 - PubMed: Uhlenberg 2004, OMIM:var0005 - - Germline yes - - 0 - Michel van Geel
?/. - c.817G>C r.(?) p.(Val273Leu) - VUS g.228346276G>C - GJC2(NM_020435.3):c.817G>C (p.V273L) - GJC2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.841C>T r.(?) p.(Leu281Phe) - VUS g.228346300C>T g.228158599C>T GJC2(NM_020435.3):c.841C>T (p.L281F) - GJC2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 2 c.857T>C r.(?) p.(Met286Thr) - pathogenic g.228346316T>C g.228158615T>C - - GJC2_000005 - PubMed: Uhlenberg 2004, OMIM:var0001 - - Germline yes - - 0 - Michel van Geel
+/. 2 c.857T>C r.(?) p.(Met286Thr) - pathogenic g.228346316T>C g.228158615T>C - - GJC2_000005 - PubMed: Uhlenberg 2004, OMIM:var0001 - - Germline yes - - 0 - Michel van Geel
?/. - c.902G>C r.(?) p.(Arg301Pro) - VUS g.228346361G>C g.228158660G>C GJC2(NM_020435.3):c.902G>C (p.R301P) - GJC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.914_947del r.(?) p.(fs*) - pathogenic g.228346373_228346406del g.228158672_228158705del - - GJC2_000006 - PubMed: Wolf 2007, OMIM:var0006 - - Germline yes - - 0 - Michel van Geel
+/. 2 c.914_947del r.(?) p.(fs*) - pathogenic g.228346373_228346406del g.228158672_228158705del - - GJC2_000006 - PubMed: Salviati 2007, OMIM:var0006 - - Germline yes - - 0 - Michel van Geel
+/. 2 c.914_947del r.(?) p.(fs*) - pathogenic g.228346373_228346406del g.228158672_228158705del - - GJC2_000006 - PubMed: Wolf 2007, OMIM:var0006 - - Germline yes - - 0 - Michel van Geel
+/. 2 c.914_947del r.(?) p.(fs*) - pathogenic g.228346373_228346406del g.228158672_228158705del - - GJC2_000006 - PubMed: Salviati 2007, OMIM:var0006 - - Germline yes - - 0 - Michel van Geel
?/. - c.947C>T r.(?) p.(Pro316Leu) - VUS g.228346406C>T g.228158705C>T GJC2(NM_020435.3):c.947C>T (p.(Pro316Leu)), GJC2(NM_020435.4):c.947C>T (p.P316L) - GJC2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.947C>T r.(?) p.(Pro316Leu) - likely benign g.228346406C>T g.228158705C>T GJC2(NM_020435.3):c.947C>T (p.(Pro316Leu)), GJC2(NM_020435.4):c.947C>T (p.P316L) - GJC2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.947C>T r.(?) p.(Pro316Leu) - likely benign g.228346406C>T g.228158705C>T GJC2(NM_020435.3):c.947C>T (p.(Pro316Leu)), GJC2(NM_020435.4):c.947C>T (p.P316L) - GJC2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.966G>C r.(?) p.(Ala322=) - benign g.228346425G>C g.228158724G>C GJC2(NM_020435.3):c.966G>C (p.A322=) - GJC2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 2 c.982del r.(?) p.(Ala328ProfsTer143) - likely pathogenic g.228346441del g.228158740del - - GJC2_000065 - 0 - - Germline - - - 0 - LOVD
+/. 2 c.989del r.(?) p.(Pro330ArgfsTer141) - pathogenic g.228346448del g.228158747del - - GJC2_000002 - PubMed: Uhlenberg 2004, OMIM:var0003 - - Germline yes - - 0 - Michel van Geel
-?/. - c.990G>C r.(?) p.(Pro330=) - likely benign g.228346449G>C g.228158748G>C GJC2(NM_020435.3):c.990G>C (p.P330=) - GJC2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1027G>T r.(?) p.(Ala343Ser) - likely benign g.228346486G>T g.228158785G>T GJC2(NM_020435.3):c.1027G>T (p.(Ala343Ser)), GJC2(NM_020435.4):c.1027G>T (p.A343S) - GJC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1027G>T r.(?) p.(Ala343Ser) - likely benign g.228346486G>T g.228158785G>T GJC2(NM_020435.3):c.1027G>T (p.(Ala343Ser)), GJC2(NM_020435.4):c.1027G>T (p.A343S) - GJC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1049T>A r.(?) p.(Leu350Gln) - VUS g.228346508T>A - GJC2(NM_020435.4):c.1049T>A (p.L350Q) - GJC2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1128C>A r.(?) p.(Gly376=) - likely benign g.228346587C>A g.228158886C>A GJC2(NM_020435.4):c.1128C>A (p.G376=) - GJC2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1150C>T r.(?) p.(Pro384Ser) - VUS g.228346609C>T g.228158908C>T GJC2(NM_020435.3):c.1150C>T (p.P384S) - GJC2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1193C>T r.(?) p.(Thr398Ile) - likely benign g.228346652C>T g.228158951C>T GJC2(NM_020435.3):c.1193C>T (p.T398I), GJC2(NM_020435.4):c.1193C>T (p.T398I) - GJC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1193C>T r.(?) p.(Thr398Ile) - likely benign g.228346652C>T g.228158951C>T GJC2(NM_020435.3):c.1193C>T (p.T398I), GJC2(NM_020435.4):c.1193C>T (p.T398I) - GJC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1193C>T r.(?) p.(Thr398Ile) - VUS g.228346652C>T g.228158951C>T GJC2(NM_020435.3):c.1193C>T (p.T398I), GJC2(NM_020435.4):c.1193C>T (p.T398I) - GJC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1193C>T r.(?) p.(Thr398Ile) - likely benign g.228346652C>T g.228158951C>T GJC2(NM_020435.3):c.1193C>T (p.T398I), GJC2(NM_020435.4):c.1193C>T (p.T398I) - GJC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1210G>A r.(?) p.(Gly404Arg) - likely benign g.228346669G>A - GJC2(NM_020435.3):c.1210G>A (p.G404R) - GJC2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1234C>T r.(?) p.(His412Tyr) - likely benign g.228346693C>T g.228158992C>T GJC2(NM_020435.3):c.1234C>T (p.H412Y), GJC2(NM_020435.4):c.1234C>T (p.H412Y) - GJC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1234C>T r.(?) p.(His412Tyr) - likely benign g.228346693C>T g.228158992C>T GJC2(NM_020435.3):c.1234C>T (p.H412Y), GJC2(NM_020435.4):c.1234C>T (p.H412Y) - GJC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1256C>T r.(?) p.(Pro419Leu) - VUS g.228346715C>T - GJC2(NM_020435.4):c.1256C>T (p.P419L) - GJC2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*19T>A r.(=) p.(=) - benign g.228346798T>A g.228159097T>A GJC2(NM_020435.3):c.*19T>A - GJC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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