Full data view for gene GRIN2B

Information The variants shown are described using the NM_000834.3 transcript reference sequence.

328 entries on 4 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     
+/. 1i_2i c.(?_-18-20840)_(411+32732_?)del r.? p.? Unknown - pathogenic g.(?_13986000)_(14040000_?)del - del ex2 12:13,986,000-14,040,000 - GRIN2B_000204 from DECIPHER database - - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD DECIPHER - from DECIPHER database - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. - c.-18-10G>C r.(=) p.(=) Unknown - benign g.14019170C>G g.13866236C>G GRIN2B(NM_000834.4):c.-18-10G>C - GRIN2B_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-15G>A r.(?) p.(=) Unknown - benign g.14019157C>T g.13866223C>T - - GRIN2B_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9i_13_ c.(?_2010+11766)_*1307{0} r.? p.? Unknown - pathogenic (dominant) g.(?_g.13656611)_(13749771_?)del - del ex11-13 12:13,656,611-13,749,771 - GRIN2B_000202 from DECIPHER database - - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD DECIPHER - from DECIPHER database - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 4i_13_ c.1125+14389_*1307{0} r.? p.? Unknown - pathogenic (dominant) g.(?_13595477)_(13814290_?)del - del ex5-13 hg19:13595477-13814290 - GRIN2B_000200 - PubMed: Platzer 2017 - - De novo - - - - - DNA SEQ - - NDD - PubMed: Platzer 2017 - - - - - - - - - 1 Johan den Dunnen
+/. 2i_13_ c.412-48969_*1307{1} r.? p.? Unknown - pathogenic (dominant) g.82319026_13955818inv - inv(12)(p13.1q21.31) - GRIN2B_000207 - PubMed: Talkowski 2012 - - De novo - - - - - DNA SEQ - gene panel NDD NDR25941 PubMed: Talkowski 2012 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - dup ex5-13 chr12:13,640,341-13,799,849x3 - ALX1_000001 copied from GRIN variant database, check paper for 2nd variant - - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-352 - copied from {DB:GRIN} F - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - chr12:13,595,477-13,781,099x1 - ALX1_000001 copied from GRIN variant database, check paper for 2nd variant Hoffer - - Unknown - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-367 Hoffer copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - del intron 1 chr12:14,042,568-14,133,113x1 - ALX1_000001 copied from GRIN variant database, check paper for 2nd variant - - - De novo - - - - - DNA SEQ - - NDD GRINdb-372 - copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - del intron 1 chr12:14,042,568-14,133,113x1 - ALX1_000001 copied from GRIN variant database, check paper for 2nd variant - - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD GRINdb-380 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - dup intron 7-2 chr12:13,765,291-13,996,711x3 - ALX1_000001 copied from GRIN variant database, check paper for 2nd variant - - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD GRINdb-385 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
-/. - c.15G>A r.(?) p.(Ala5=) Unknown - benign g.14019128C>T g.13866194C>T GRIN2B(NM_000834.4):c.15G>A (p.A5=) - GRIN2B_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.20G>A r.(?) p.(Cys7Tyr) Unknown - likely benign g.14019123C>T g.13866189C>T - - GRIN2B_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33G>A r.(?) p.(Lys11=) Unknown - likely benign g.14019110C>T - GRIN2B(NM_000834.4):c.33G>A (p.K11=) - GRIN2B_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.99dup r.(?) p.(Ser34Glnfs*25) Unknown - pathogenic (dominant) g.14019050dup g.13866116dup 99dupC - GRIN2B_000177 - PubMed: O'Roak 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES (trio) NDD 11691.p1 PubMed: O'Roak 2012 - M - - - - - - - 1 Johan den Dunnen
+/. - c.99dup r.(?) p.(Ser34GlnfsTer25) Unknown - pathogenic g.14019050dup - - - GRIN2B_000177 - - - rs398122823 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.117C>T r.(=) p.(=) Maternal (confirmed) - likely benign g.14019026G>A g.13866092G>A - - GRIN2B_000006 - PubMed: Endele 2010 - - Germline no 1/306 cases - - - - - - - - - - - - - - - - - - - - -
./. - c.140A>G r.(?) p.(Glu47Gly) Unknown - VUS g.14019003T>C g.13866069T>C - - GRIN2B_000030 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs199526748 Germline - 2/567 controls - - - DNA SEQ-NG - - Healthy/Control S_319:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.140A>G r.(?) p.(Glu47Gly) Unknown - VUS g.14019003T>C g.13866069T>C - - GRIN2B_000030 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs199526748 Germline - 2/567 controls - - - DNA SEQ-NG - - Healthy/Control S_469:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
?/. - c.140A>G r.(?) p.(Glu47Gly) Unknown - VUS g.14019003T>C g.13866069T>C GRIN2B(NM_000834.4):c.140A>G (p.E47G) - GRIN2B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140A>G r.(?) p.(Glu47Gly) Unknown - likely benign g.14019003T>C g.13866069T>C GRIN2B(NM_000834.4):c.140A>G (p.E47G) - GRIN2B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.162C>G r.(?) p.(His54Gln) Unknown - VUS g.14018981G>C - GRIN2B(NM_000834.5):c.162C>G (p.H54Q) - GRIN2B_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.189C>T r.(=) p.(=) Maternal (confirmed) - likely benign g.14018954G>A g.13866020G>A - - GRIN2B_000007 - PubMed: Endele 2010 - - Germline no 1/630 cases - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.228C>T r.(=) p.(=) Parent #1 - likely benign g.14018915G>A g.13865981G>A - - GRIN2B_000008 - PubMed: Endele 2010 - - Germline no 2/936 cases - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228C>T r.(?) p.(Thr76=) Unknown - likely benign g.14018915G>A g.13865981G>A GRIN2B(NM_000834.4):c.228C>T (p.T76=), GRIN2B(NM_000834.5):c.228C>T (p.T76=) - GRIN2B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228C>T r.(?) p.(Thr76=) Unknown - likely benign g.14018915G>A g.13865981G>A GRIN2B(NM_000834.4):c.228C>T (p.T76=), GRIN2B(NM_000834.5):c.228C>T (p.T76=) - GRIN2B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.230A>G r.(?) p.(Asp77Gly) Unknown - VUS g.14018913T>C - GRIN2B(NM_000834.5):c.230A>G (p.D77G) - GRIN2B_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257G>A r.(?) p.(Cys86Tyr) Unknown - VUS g.14018886C>T g.13865952C>T - - GRIN2B_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.284del r.(?) p.(Gln95ArgfsTer38) Unknown - likely pathogenic g.14018859del g.13865925del - - GRIN2B_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.324C>T r.(?) p.(Ile108=) Unknown - likely benign g.14018819G>A - GRIN2B(NM_000834.4):c.324C>T (p.I108=) - GRIN2B_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.343A>T r.(?) p.(Ile115Phe) Unknown - likely benign g.14018800T>A - GRIN2B(NM_000834.3):c.343A>T (p.(Ile115Phe)) - GRIN2B_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.360C>T r.(?) p.(Leu120=) Unknown - likely benign g.14018783G>A g.13865849G>A GRIN2B(NM_000834.4):c.360C>T (p.L120=) - GRIN2B_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.366C>G r.366c>g p.Pro122= Parent #2 - benign g.14018777G>C g.13865843G>C - - GRIN2B_000002 - PubMed: Endele 2010 - rs7301328 Germline no - - - - DNA, RNA RT-PCR, SEQ - - ID - PubMed: Endele 2010 - M no Germany - - - - - 1 Johan den Dunnen
-/. 2 c.366C>G r.366c>g p.Pro122= Parent #2 - benign g.14018777G>C g.13865843G>C - - GRIN2B_000002 - PubMed: Endele 2010 - rs7301328 Germline no - - - - DNA, RNA RT-PCR, SEQ - - ID - PubMed: Endele 2010 - F no - European - - - - 1 Johan den Dunnen
-/. - c.366C>G r.(?) p.(Pro122=) Unknown - benign g.14018777G>C g.13865843G>C GRIN2B(NM_000834.5):c.366C>G (p.P122=) - GRIN2B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.366C>G r.(?) p.(Pro122=) Unknown - benign g.14018777G>C g.13865843G>C GRIN2B(NM_000834.5):c.366C>G (p.P122=) - GRIN2B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.382G>A r.(?) p.(Gly128Arg) Unknown - VUS g.14018761C>T g.13865827C>T - - GRIN2B_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.401T>C r.(?) p.(Met134Thr) Unknown - VUS g.14018742A>G g.13865808A>G GRIN2B(NM_000834.4):c.401T>C (p.M134T) - GRIN2B_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.411+1G>A r.0 p.0 Parent #1 - pathogenic g.14018731C>T g.13865797C>T - - GRIN2B_000001 no expression detected in RNA; variant not in 360 control chromosomes PubMed: Endele 2010, OMIM:var0001 - - De novo yes 1/630 cases - - - DNA, RNA RT-PCR, SEQ - - ID - PubMed: Endele 2010 - M no Germany - - - - - 1 Johan den Dunnen
+/. 2i c.(411+1_411+50000)delinsN[?] r.? p.? Unknown - pathogenic (dominant) g.(13968732_14018731)_qterdelins[NC_000009.11:g.pter_(52900001_70600000)inv] g.(13815798_13865797)_qterdelins[NC_000009.12:g.pter_(51100001_68800000)inv] - 46,XY t(10;12)(q21.1;p13.1) GRIN2B_000206 - PubMed: Endele 2010 - - De novo - - - - - DNA FISH, microscope - - NDD Pat2 PubMed: Endele 2010 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.448A>G r.(?) p.(Ile150Val) Unknown - likely pathogenic (dominant) g.13906813T>C g.13753879T>C - - GRIN2B_000176 - PubMed: Retterer 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - WES (trio) NDD - PubMed: Retterer 2015 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.448A>G r.(?) p.(Ile150Val) Unknown - likely pathogenic (dominant) g.13906813T>C g.13753879T>C - - GRIN2B_000176 - PubMed: Platzer 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD - PubMed: Platzer 2017 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.465C>A r.(?) p.(Ser155=) Unknown - likely benign g.13906796G>T - GRIN2B(NM_000834.4):c.465C>A (p.S155=) - GRIN2B_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.504C>A r.(?) p.(Ile168=) Unknown - benign g.13906757G>T g.13753823G>T - - GRIN2B_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.538C>T r.(?) p.(Gln180*) Unknown - pathogenic (dominant) g.13906723G>A g.13753789G>A - - GRIN2B_000175 - PubMed: Platzer 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - gene panel NDD - PubMed: Platzer 2017 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.542A>C r.(?) p.(Asp181Ala) Unknown - likely benign g.13906719T>G g.13753785T>G - - GRIN2B_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.591G>A r.(?) p.(Trp197Ter) Unknown - pathogenic g.13906670C>T g.13753736C>T GRIN2B(NM_000834.4):c.591G>A (p.W197*) - GRIN2B_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.649C>T r.(?) p.(Gln217*) Unknown - likely pathogenic (dominant) g.13906612G>A g.13753678G>A - - GRIN2B_000112 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411446 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.737C>A r.(?) p.(Ser246*) Unknown ACMG likely pathogenic g.13906524G>T g.13753590G>T - - GRIN2B_000026 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - MRD6 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
+/. - c.737C>A r.(?) p.(Ser246*) Unknown - pathogenic (dominant) g.13906524G>T g.13753590G>T - - GRIN2B_000026 - PubMed: Platzer 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES (trio) NDD - PubMed: Platzer 2017 - F - - - - - - - 1 Johan den Dunnen
?/. - c.752G>A r.(?) p.(Gly251Asp) Unknown - VUS g.13906509C>T g.13753575C>T GRIN2B(NM_000834.5):c.752G>A (p.G251D) - GRIN2B_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.803_804del r.803_804del p.Thr268Serfs*15 Parent #1 - pathogenic (dominant) g.13906460_13906461del g.13753526_13753527del 803_804delCA - GRIN2B_000003 not in 360 control chromosomes PubMed: Endele 2010, OMIM:var0002 - - De novo yes 1/306 cases - - - DNA, RNA RT-PCR, SEQ - - ID Pat9 PubMed: Endele 2010 - F no Germany - - - - - 1 Johan den Dunnen
-?/. - c.812C>T r.(?) p.(Ala271Val) Unknown - likely benign g.13906449G>A - GRIN2B(NM_000834.4):c.812C>T (p.A271V) - GRIN2B_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.919A>G r.(?) p.(Met307Val) Unknown - VUS g.13906342T>C g.13753408T>C - - GRIN2B_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.991C>A r.(?) p.(Gln331Lys) Unknown - VUS g.13906270G>T - GRIN2B(NM_000834.3):c.991C>A (p.(Gln331Lys)) - GRIN2B_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i_10_ c.(?_1011-25)_(2130_?)del r.? p.? Unknown - pathogenic g.(?_13724779)_(13828818_?)del - del ex5-9 12:13,724,779-13,828,818 - GRIN2B_000203 from DECIPHER database - - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD DECIPHER - from DECIPHER database - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.1088del r.(?) p.(Val363Glyfs*2) Unknown - likely pathogenic (dominant) g.13828716del g.13675782del - - GRIN2B_000111 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411556 PubMed: Grozeva 2015, Journal: Grozeva 2015 - F - - - - - - - 1 Johan den Dunnen
-?/. 13 c.1116G>A r.(=) p.(=) Unknown - likely benign g.13828688C>T g.13675754C>T 1116A>G - GRIN2B_000021 variant reported erroneously or reference sequence is rare allele PubMed: Endele 2010 - - Unknown ? 1/630 cases - - - - - - - - - - - - - - - - - - - - -
+/. - c.1119G>A r.(?) p.(Trp373*) Unknown - pathogenic (dominant) g.13828685C>T g.13675751C>T - - GRIN2B_000174 - PubMed: Platzer 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - gene panel NDD - PubMed: Platzer 2017 - F - - - - - - - 1 Johan den Dunnen
+/. 4i c.(1125+1_1126-1)delinsN[?] r.? p.? Unknown - pathogenic (dominant) g.(13769592_13828678)_qterdelins[NC_000009.11:g.(9000001_14200000)_qter] g.(13616658_13675744)_qterdelins[NC_000009.12:g.(9000001_14200000)_qter] - 46XY t(9;12)(p23;p13.1) GRIN2B_000205 - PubMed: Endele 2010 - - De novo - - - - - DNA FISH, microscope - - NDD Pat1 PubMed: Endele 2010 2-generation family, 1 affected, unaffected non carrier parents M - Germany - - - - - 1 Johan den Dunnen
-/. - c.1125+20A>G r.(=) p.(=) Unknown - benign g.13828659T>C g.13675725T>C GRIN2B(NM_000834.5):c.1125+20A>G - GRIN2B_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4i c.1126-12A>G r.(=) p.(=) Parent #1 - likely benign g.13769603T>C g.13616669T>C - - GRIN2B_000009 - PubMed: Endele 2010 - - Germline no 2/630 cases - - - - - - - - - - - - - - - - - - - - -
-/. - c.1126-12A>G r.(=) p.(=) Unknown - benign g.13769603T>C g.13616669T>C GRIN2B(NM_000834.4):c.1126-12A>G - GRIN2B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1177C>T r.(?) p.(Arg393*) Unknown - likely pathogenic g.13769540G>A - - - GRIN2B_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1238A>G r.(?) p.(Glu413Gly) Unknown - pathogenic (dominant) g.13769479T>C g.13616545T>C - - GRIN2B_000173 - PubMed: Adams 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - WES (trio) NDD, PCKDC FamPatII1 PubMed: Adams 2014 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - - Jew-Ashkenazi - - - - 2 Johan den Dunnen
-?/. - c.1287C>T r.(?) p.(=) Unknown - likely benign g.13769430G>A - GRIN2B(NM_000834.5):c.1287C>T (p.(Cys429=)) - GRIN2B_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1295A>T r.(?) p.(Asn432Ile) Unknown - likely pathogenic g.13769422T>A - - - GRIN2B_000230 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1306T>C r.(?) p.(Cys436Arg) Unknown - likely pathogenic (dominant) g.13769411A>G g.13616477A>G - - GRIN2B_000172 - PubMed: Platzer 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES (trio) NDD - PubMed: Platzer 2017 - M - - - - - - - 1 Johan den Dunnen
-/. - c.1329-140G>A r.(=) p.(=) Unknown - benign g.13768738C>T g.13615804C>T GRIN2B(NM_000834.4):c.1329-140G>A - GRIN2B_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1349C>T r.(?) p.(Pro450Leu) Unknown - VUS g.13768578G>A g.13615644G>A - - GRIN2B_000029 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs201566587 Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_124:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
+/. - c.1367G>A r.(?) p.(Cys456Tyr) Unknown - likely pathogenic (dominant) g.13768560C>T g.13615626C>T - - GRIN2B_000171 - PubMed: O'Roak 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES (trio) NDD 13932.p1 PubMed: O'Roak 2012 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1368C>A r.(?) p.(Cys456*) Unknown - pathogenic g.13768559G>T g.13615625G>T - - GRIN2B_000170 copied from GRIN variant database, check paper for 2nd variant - - - De novo - - - - - DNA SEQ - - NDD GRINdb-353 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+?/. - c.1375G>A r.(?) p.(Gly459Arg) Unknown - likely pathogenic g.13768552C>T g.13615618C>T - - GRIN2B_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1382G>T r.(?) p.(Cys461Phe) Unknown - pathogenic (dominant) g.13768545C>A g.13615611C>A - - GRIN2B_000169 - PubMed: Epi4K Consortium2013 - - De novo - - - - - DNA SEQ, SEQ-NG - WES (trio) NDD - PubMed: Epi4K Consortium 2013 - M - - - - - - - 1 Johan den Dunnen
+?/. 7 c.1463A>T r.(?) p.(Lys488Met) Unknown ACMG likely pathogenic g.13768464T>A g.13615530T>A - - GRIN2B_000234 - - ClinVar-4083509 - De novo - - - - - DNA SEQ-NG-I peripheral blood WES NDD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. - c.1495G>A r.(?) p.(Gly499Arg) Unknown - likely pathogenic (dominant) g.13768432C>T g.13615498C>T - - GRIN2B_000168 - PubMed: Platzer 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES (trio) NDD - PubMed: Platzer 2017 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.1537C>T r.(?) p.(Leu513Phe) Unknown - likely pathogenic g.13768165G>A g.13615231G>A GRIN2B(NM_000834.4):c.1537C>T (p.L513F) - GRIN2B_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1540A>G r.(?) p.(Thr514Ala) Unknown - likely pathogenic (dominant) g.13768162T>C g.13615228T>C - - GRIN2B_000167 - PubMed: Platzer 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES (trio) NDD - PubMed: Platzer 2017 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1547A>G r.(?) p.(Asn516Ser) Unknown - likely pathogenic (dominant) g.13768155T>C g.13615221T>C - - GRIN2B_000166 - PubMed: Platzer 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES (trio) NDD - PubMed: Platzer 2017 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1555C>T r.(?) p.(Arg519Ter) Unknown - pathogenic g.13768147G>A g.13615213G>A GRIN2B(NM_000834.5):c.1555C>T (p.R519*) - GRIN2B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1555C>T r.(?) p.(Arg519Ter) Unknown - likely pathogenic g.13768147G>A g.13615213G>A GRIN2B(NM_000834.5):c.1555C>T (p.R519*) - GRIN2B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 7 c.1560G>A r.(=) p.(=) Maternal (confirmed) - likely benign g.13768142C>T g.13615208C>T - - GRIN2B_000010 - PubMed: Endele 2010 - - Germline no 1/630 cases - - - - - - - - - - - - - - - - - - - - -
?/. - c.1570G>A r.(?) p.(Asp524Asn) Unknown - VUS g.13768132C>T g.13615198C>T - - GRIN2B_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1573T>G r.(?) p.(Phe525Val) Unknown - likely pathogenic (dominant) g.13768129A>C g.13615195A>C - - GRIN2B_000165 - PubMed: O'Roak 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - WES (trio) NDD - PubMed: O'Roak 2014 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.1583C>T r.(?) p.(Pro528Leu) Unknown - likely pathogenic g.13768119G>A - GRIN2B(NM_000834.5):c.1583C>T (p.P528L) - GRIN2B_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1590A>G r.(?) p.(Ile530Met) Unknown - VUS g.13768112T>C g.13615178T>C GRIN2B(NM_000834.4):c.1590A>G (p.I530M) - GRIN2B_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1598G>A r.(?) p.(Gly533Asp) Unknown - VUS g.13768104C>T g.13615170C>T - - GRIN2B_000164 - PubMed: Platzer 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES (single) NDD - PubMed: Platzer 2017 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.1598G>T r.(?) p.(Gly533Val) Unknown - likely pathogenic g.13768104C>A g.13615170C>A GRIN2B(NM_000834.5):c.1598G>T (p.G533V) - GRIN2B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1606G>A r.(?) p.(Val536Ile) Unknown ACMG pathogenic (dominant) g.13768096C>T g.13615162C>T - - GRIN2B_000195 ACMG PS2, PM1, PM2, PP2, PP3 PubMed: Marinakis 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 9124 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.1619G>A r.(?) p.(Arg540His) Unknown - likely pathogenic (dominant) g.13768083C>T g.13615149C>T - - GRIN2B_000163 - PubMed: Lemke 2014 - - De novo - - - - - DNA SEQ - gene panel NDD Pat3 PubMed: Lemke 2014 - F - Switzerland - - - - - 1 Johan den Dunnen
+/. - c.1619G>A r.(?) p.(Arg540His) Unknown - likely pathogenic (dominant) g.13768083C>T g.13615149C>T - - GRIN2B_000163 - PubMed: Platzer 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - gene panel NDD - PubMed: Platzer 2017 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1619G>A r.(?) p.(Arg540His) Unknown - pathogenic g.13768083C>T - GRIN2B(NM_000834.3):c.1619G>A (p.(Arg540His)) - GRIN2B_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1623C>G r.(?) p.(Ser541Arg) Unknown - pathogenic (dominant) g.13768079G>C g.13615145G>C - - GRIN2B_000162 - PubMed: Platzer 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES (trio) NDD - PubMed: Platzer 2017 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.1628G>C r.(?) p.(Gly543Ala) Unknown - likely pathogenic g.13768074C>G g.13615140C>G - - GRIN2B_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1652T>C r.(?) p.(Leu551Ser) Parent #1 - pathogenic g.13768050A>G g.13615116A>G - - GRIN2B_000161 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-373 - copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
-/. - c.1655-71A>C r.(=) p.(=) Unknown - benign g.13764855T>G g.13611921T>G GRIN2B(NM_000834.4):c.1655-71A>C - GRIN2B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1657C>A r.(?) p.(Pro553Thr) Unknown - pathogenic g.13764782G>T g.13611848G>T - - GRIN2B_000160 copied from GRIN variant database, check paper for 2nd variant PubMed: Soto 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES (trio) NDD GRINdb-349 PubMed: Soto 2017 copied from {DB:GRIN} F - - - - - - - 1 Johan den Dunnen
+?/. - c.1658C>T r.(?) p.(Pro553Leu) Unknown - pathogenic (dominant) g.13764781G>A g.13611847G>A - - GRIN2B_000083 - PubMed: de Ligt 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Trio25 PubMed: de Ligt 2012 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1659dup r.(?) p.(Phe554IlefsTer4) Unknown - pathogenic g.13764780dup g.13611846dup GRIN2B(NM_000834.5):c.1659dupA (p.F554Ifs*4) - GRIN2B_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1660T>A r.(?) p.(Phe554Ile) Unknown - VUS g.13764779A>T g.13611845A>T GRIN2B(NM_000834.3):c.1660T>A (p.(Phe554Ile)) - GRIN2B_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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