All variants in the DLG3 gene

Information The variants shown are described using the NM_021120.3 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
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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     
+?/. 1 c.-8dup r.(?) p.(=) - likely benign g.69665044dup g.70445194dup -14_-13insG - DLG3_000034 - PubMed: Kumar 2016, Journal: Kumar 2016 - - Germline - - - 0 - Thuong Ha
+/. 1 c.-8dup r.(=) p.(=) - NA g.69665044dup g.70445194dup -14_-13insG - DLG3_000034 HEK293T cell expression cloning dual luciferase reporter assay shows reduced protein translation PubMed: Kumar 2016, Journal: Kumar 2016 - - In vitro (cloned) - - - 0 - Johan den Dunnen
?/. - c.5A>C r.(?) p.(His2Pro) - VUS g.69665056A>C g.70445206A>C DLG3(NM_021120.3):c.5A>C (p.(His2Pro)) - DLG3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.5A>C r.(?) p.(His2Pro) - VUS g.69665056A>C g.70445206A>C DLG3(NM_021120.3):c.5A>C (p.(His2Pro)) - DLG3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.91G>A r.(?) p.(Gly31Ser) - VUS g.69665142G>A g.70445292G>A DLG3(NM_021120.3):c.91G>A (p.G31S) - DLG3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.92del r.(?) p.(Gly31AlafsTer90) - pathogenic g.69665143del g.70445293del DLG3(NM_021120.3):c.92delG (p.G31Afs*90) - DLG3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
./. - c.92del r.(?) p.(Gly31Alafs*90) - pathogenic g.69665143del g.70445293del DLG3 G31Afs*90 - DLG3_000048 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
-?/. - c.126T>A r.(?) p.(Gly42=) - likely benign g.69665177T>A - DLG3(NM_021120.3):c.126T>A (p.G42=) - DLG3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.142A>G r.(?) p.(Ser48Gly) - likely benign g.69665193A>G g.70445343A>G DLG3(NM_021120.3):c.142A>G (p.S48G) - DLG3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.151T>G r.(?) p.(Tyr51Asp) - VUS g.69665202T>G g.70445352T>G DLG3(NM_021120.3):c.151T>G (p.Y51D) - DLG3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.237C>T r.(?) p.(Gly79=) - likely benign g.69665288C>T g.70445438C>T DLG3(NM_021120.3):c.237C>T (p.G79=) - DLG3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.251C>T r.(?) p.(Pro84Leu) ACMG likely pathogenic (recessive) g.69665302C>T g.70445452C>T - - DLG3_000080 ACMG PM2, PP3, PP4 PubMed: Marinakis 2021 - - Germline - - - 0 - Jan Traeger-Synodinos
-?/. - c.273G>A r.(?) p.(Pro91=) - likely benign g.69665324G>A g.70445474G>A DLG3(NM_021120.3):c.273G>A (p.P91=) - DLG3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 1 c.304G>A r.(?) p.(Gly102Ser) - VUS g.69665355G>A g.70445505G>A - - DLG3_000001 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - Lucy Raymond
-?/. - c.304G>A r.(?) p.(Gly102Ser) - likely benign g.69665355G>A g.70445505G>A DLG3(NM_021120.3):c.304G>A (p.G102S, p.(Gly102Ser)) - DLG3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.304G>A r.(?) p.(Gly102Ser) - VUS g.69665355G>A g.70445505G>A DLG3(NM_021120.3):c.304G>A (p.G102S, p.(Gly102Ser)) - DLG3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.353A>G r.(?) p.(Glu118Gly) - likely pathogenic g.69665404A>G g.70445554A>G - - DLG3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.357+1G>C r.spl p.? - pathogenic (recessive) g.69665409G>C g.70445559G>C - - DLG3_000049 affects splice donor PubMed: Philips 2014, PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
-/. - c.358-300A>G r.(=) p.(=) - benign g.69668463A>G g.70448613A>G DLG3(NM_021120.4):c.358-300A>G - DLG3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.409-4G>T r.spl? p.? - likely benign g.69669205G>T g.70449355G>T DLG3(NM_020730.2):c.-3267G>T (p.(=)), DLG3(NM_021120.3):c.409-4G>T, DLG3(NM_021120.4):c.409-4G>T - DLG3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.409-4G>T r.spl? p.? - likely benign g.69669205G>T g.70449355G>T DLG3(NM_020730.2):c.-3267G>T (p.(=)), DLG3(NM_021120.3):c.409-4G>T, DLG3(NM_021120.4):c.409-4G>T - DLG3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.409-4G>T r.spl? p.? - VUS g.69669205G>T g.70449355G>T DLG3(NM_020730.2):c.-3267G>T (p.(=)), DLG3(NM_021120.3):c.409-4G>T, DLG3(NM_021120.4):c.409-4G>T - DLG3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/? 3 c.429C>T r.(?) p.(=) - likely benign g.69669229C>T g.70449379C>T F143F - DLG3_000002 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - Lucy Raymond
+?/. - c.491A>T r.(?) p.(Lys164Met) - likely pathogenic g.69669291A>T g.70449441A>T - - DLG3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.597G>A r.(?) p.(Ala199=) - likely benign g.69669603G>A g.70449753G>A DLG3(NM_021120.3):c.597G>A (p.A199=) - DLG3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.634T>C r.(?) p.(Leu212=) - likely benign g.69669640T>C g.70449790T>C DLG3(NM_021120.3):c.634T>C (p.L212=) - DLG3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 4 c.649C>T r.(?) p.(Arg217*) - pathogenic g.69669655C>T g.70449805C>T - - DLG3_000007 - PubMed: Tzschach 2015 - - Germline ? - - 0 - Andreas Tzschach
-?/. - c.703+4C>A r.spl? p.? - likely benign g.69669713C>A - DLG3(NM_021120.3):c.703+4C>A - DLG3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.703+4C>T r.spl? p.? - likely benign g.69669713C>T g.70449863C>T DLG3(NM_020730.2):c.-2759C>T (p.(=)) - DLG3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.764T>A r.(?) p.(Ile255Asn) - VUS g.69670079T>A - - - DLG3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.803A>T r.(?) p.(Lys268Met) - VUS g.69670118A>T - DLG3(NM_021120.4):c.803A>T (p.K268M) - DLG3_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.840+1G>A r.spl p.? - likely pathogenic g.69670156G>A g.70450306G>A - - DLG3_000068 - - - - Unknown - - - 0 - IMGAG
+/. - c.859C>T r.(?) p.(Gln287Ter) - pathogenic g.69670507C>T g.70450657C>T - - DLG3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.985+1G>A r.spl? p.? - likely pathogenic g.69670634G>A - DLG3(NM_021120.3):c.985+1G>A - DLG3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.985+1G>C r.spl p.? - pathogenic (recessive) g.69670634G>C g.70450784G>C - - DLG3_000050 affects splice donor PubMed: Philips 2014, PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
./. - c.1092dup r.(?) p.(Thr365Hisfs*13) - pathogenic g.69671823dup g.70451973dup DLG3 insC T365Hfs* - DLG3_000051 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
?/. - c.1145+586G>C r.(=) p.(=) - VUS g.69672462G>C g.70452612G>C - - DLG3_000028 - - - - Germline - - - - - Yu Sun
?/. - c.1145+586G>C r.(=) p.(=) - VUS g.69672462G>C g.70452612G>C - - DLG3_000028 - - - - Germline - - - - - Yu Sun
-/. - c.1145+586G>C r.(=) p.(=) - benign g.69672462G>C g.70452612G>C DLG3(NM_020730.3):c.-10G>C - DLG3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1145+643G>C r.(=) p.(=) - benign g.69672519G>C g.70452669G>C DLG3(NM_001166278.1):c.-2639G>C (p.(=)), DLG3(NM_020730.2):c.48G>C (p.L16F) - DLG3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1145+643G>C r.(=) p.(=) - VUS g.69672519G>C g.70452669G>C DLG3(NM_001166278.1):c.-2639G>C (p.(=)), DLG3(NM_020730.2):c.48G>C (p.L16F) - DLG3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1145+730G>A r.(=) p.(=) - VUS g.69672606G>A g.70452756G>A DLG3(NM_020730.2):c.134+1G>A (p.?) - DLG3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1145+779T>C r.(=) p.(=) - VUS g.69672655T>C g.70452805T>C - - DLG3_000030 - - - - Germline - - - - - Yu Sun
?/. - c.1280G>T r.(?) p.(Arg427Leu) - VUS g.69673621G>T - - - DLG3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1302+8G>A r.(=) p.(=) - likely benign g.69673651G>A - DLG3(NM_021120.3):c.1302+8G>A - DLG3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 8i c.1302+168T>C r.(?) p.(=) - VUS g.69673811T>C g.70453961T>C - - DLG3_000004 - PubMed: Almomani 2011 - rs2274309 Germline - - - 0 - Gerard C.P. Schaafsma
?/. 8i c.1302+168T>C r.(?) p.(=) - VUS g.69673811T>C g.70453961T>C - - DLG3_000004 - - - - Germline - - - 0 - Yu Sun
?/. 8i c.1302+168T>C r.(?) p.(=) - VUS g.69673811T>C g.70453961T>C - - DLG3_000004 - - - - Germline - - - 0 - Yu Sun
?/. - c.1361G>A r.(?) p.(Arg454Gln) - VUS g.69674122G>A g.70454272G>A DLG3(NM_021120.3):c.1361G>A (p.R454Q) - DLG3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1369del r.(?) p.(Gln457Serfs*28) - pathogenic g.69674130del g.70454280del - - DLG3_000069 - - - - Unknown - - - 0 - IMGAG
?/. - c.1406-277C>T r.(=) p.(=) - VUS g.69698723C>T g.70478873C>T - - DLG3_000003 - - - - Germline - - - - - Yu Sun
?/. - c.1406-277C>T r.(=) p.(=) - VUS g.69698723C>T g.70478873C>T - - DLG3_000003 - - - - Germline - - - - - Yu Sun
?/. - c.1493C>T r.(?) p.(Thr498Ile) - VUS g.69699087C>T g.70479237C>T - - DLG3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1518C>G r.(?) p.(Val506=) - likely benign g.69699112C>G g.70479262C>G DLG3(NM_021120.3):c.1518C>G (p.V506=) - DLG3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1520+4A>G r.spl? p.? - VUS g.69699118A>G - DLG3(NM_021120.3):c.1520+4A>G (p.?) - DLG3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1595T>C r.(?) p.(Ile532Thr) - VUS g.69712031T>C g.70492181T>C DLG3(NM_001166278.1):c.146T>C (p.(Ile49Thr)) - DLG3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1720C>T r.(?) p.(Arg574Ter) - pathogenic g.69712393C>T g.70492543C>T - - DLG3_000067 - - - - Unknown - - - 0 - IMGAG
+/. - c.1720C>T r.(?) p.(Arg574Ter) - pathogenic (recessive) g.69712393C>T g.70492543C>T - - DLG3_000067 - PubMed: Froukh 2020 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1751C>T r.(?) p.(Thr584Met) - VUS g.69712424C>T g.70492574C>T DLG3(NM_021120.3):c.1751C>T (p.T584M) - DLG3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1773+741dup r.(=) p.(=) - VUS g.69713187dup g.70493337dup - - DLG3_000033 - - - - Germline - - - - - Yu Sun
?/. - c.1773+795C>T r.(=) p.(=) - VUS g.69713241C>T g.70493391C>T DLG3(NM_020730.2):c.778C>T (p.R260C) - DLG3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1819+1424G>C r.(=) p.(=) - VUS g.69716727G>C g.70496877G>C - - DLG3_000006 - - - - Germline - - - - - Yu Sun
?/. - c.1819+1424G>C r.(=) p.(=) - VUS g.69716727G>C g.70496877G>C - - DLG3_000006 - - - - Germline - - - - - Yu Sun
?/. - c.1820-1340A>G r.(=) p.(=) - VUS g.69717030A>G - DLG3(NM_020730.3):c.863A>G (p.Q288R) - DLG3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1820-56C>T r.(=) p.(=) - VUS g.69718314C>T g.70498464C>T - - DLG3_000008 - - - - Germline - - - - - Yu Sun
?/. - c.1820-56C>T r.(=) p.(=) - VUS g.69718314C>T g.70498464C>T - - DLG3_000008 - - - - Germline - - - - - Yu Sun
?/. - c.1870+113_1870+116del r.(=) p.(=) - VUS g.69718533_69718536del g.70498683_70498686del - - DLG3_000031 - - - - Germline - - - - - Yu Sun
?/. - c.1870+113_1870+116del r.(=) p.(=) - VUS g.69718533_69718536del g.70498683_70498686del - - DLG3_000031 - - - - Germline - - - - - Yu Sun
?/. - c.1870+114_1870+117del r.(=) p.(=) - VUS g.69718534_69718537del g.70498684_70498687del - - DLG3_000013 - - - - Germline - - - - - Yu Sun
?/. - c.1870+114_1870+117del r.(=) p.(=) - VUS g.69718534_69718537del g.70498684_70498687del - - DLG3_000013 - - - - Germline - - - - - Yu Sun
-?/. - c.1899G>A r.(?) p.(Leu633=) - likely benign g.69719054G>A g.70499204G>A DLG3(NM_021120.3):c.1899G>A (p.L633=) - DLG3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1939G>A r.(?) p.(Glu647Lys) - VUS g.69719094G>A g.70499244G>A DLG3(NM_021120.3):c.1939G>A (p.(Glu647Lys)) - DLG3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1973-152C>T r.(=) p.(=) - VUS g.69719575C>T g.70499725C>T - - DLG3_000015 - - - - Germline - - - - - Yu Sun
?/. - c.1973-152C>T r.(=) p.(=) - VUS g.69719575C>T g.70499725C>T - - DLG3_000015 - - - - Germline - - - - - Yu Sun
+/. - c.1987C>T r.(?) p.(Arg663Ter) - pathogenic g.69719741C>T g.70499891C>T - - DLG3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.2288C>T r.(?) p.(Ala763Val) - VUS g.69720780C>T g.70500930C>T DLG3(NM_021120.3):c.2288C>T (p.A763V) - DLG3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2393A>G r.(?) p.(Lys798Arg) - VUS g.69722058A>G - DLG3(NM_021120.3):c.2393A>G (p.K798R) - DLG3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*1341dup r.(=) p.(=) - VUS g.69723460dup g.70503610dup - - DLG3_000018 - - - - Germline - - - - - Yu Sun
?/. 19 c.*1975G>A r.(?) p.(=) - VUS g.69724094G>A g.70504244G>A - - DLG3_000005 - PubMed: Almomani 2011 - rs1044422 Germline - - - 0 - Gerard C.P. Schaafsma
?/. 19 c.*1975G>A r.(?) p.(=) - VUS g.69724094G>A g.70504244G>A - - DLG3_000005 - - - - Germline - - - 0 - Yu Sun
?/. 19 c.*1975G>A r.(?) p.(=) - VUS g.69724094G>A g.70504244G>A - - DLG3_000005 - - - - Germline - - - 0 - Yu Sun
?/. - c.*2612G>T r.(=) p.(=) - VUS g.69724731G>T g.70504881G>T - - DLG3_000022 - - - - Germline - - - - - Yu Sun
?/. - c.*2612G>T r.(=) p.(=) - VUS g.69724731G>T g.70504881G>T - - DLG3_000022 - - - - Germline - - - - - Yu Sun
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