Full data view for gene GRIN2A

Information The variants shown are described using the NM_000833.3 transcript reference sequence.

413 entries on 5 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.(-45292_-78561)_(414+27616_414+46734)del r.0? p.0? Parent #1 - pathogenic (dominant) g.(10227121_10246239)_(10321593_10354862)del - arr 16p13.2 (10,227,121×2, 10,246,239-10,321,593×1, 10,354,862×2) - GRIN2A_000128 - PubMed: Lesca 2013 - - Germline yes - - - - DNA SEQ - - EE Fam2 PubMed: Lesca 2013 2-generation family, 3 affected - - - - - - - - 3 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex1-3 chr16:10,246,239–10,321,593×1 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-180 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex12-14 chr16:9,850,397-9,908,508x1 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2013 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-181 PubMed: Lemke 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex1-3 chr16:10,243,256-19,279,848x1 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2013 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-182 PubMed: Lemke 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex4-14 chr16:9,825,755-10,069,792x1 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2013 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-183 PubMed: Lemke 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex1-3 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-185 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex4 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-186 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex4-14 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant PubMed: DeVries 2013 - - Unknown - - - - - DNA SEQ - - NDD GRINdb-187 PubMed: DeVries 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex1-3 chr16:10,241,998-10,300,800x1 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-188 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex1-3 chr16:10,241,998-10,300,800x1 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-189 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex1-3 chr16:10,227,326-10,300,839x1 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-190 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex4 chr16:10,000,670-10,197,654x1 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD GRINdb-191 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex4-5 chr16:9,976,657-10,162,335x1 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-192 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex1-13 chr16:9,857,004-10,032,413x1 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-193 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex4-6 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-194 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - dup ex3-4 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-195 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - dup ex4-5 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-196 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - t(16;17)(p13.2;q11.2) - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-197 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - t(16;17)(p13.2;q11.2) - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-198 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex4 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-327 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex4 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-328 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex6-11 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-329 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex4-14 16p13.2 292,09 kb - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant PubMed: DeVries 2013 - - Unknown - - - - - DNA SEQ - - NDD GRINdb-330 PubMed: DeVries 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - chr16:10,227,326-10,300,839x1 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-331 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - chr16:10,227,326-10,300,839x1 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-332 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - chr16:10,227,326-10,300,839x1 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-333 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex4-5 chr16:9,976,657-10,162,335x1 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-334 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex6-7 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-335 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex6-7 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-336 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex6-7 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-337 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - t(16;17)(p13.2;q11.2), intron 3 - exon 6 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-338 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - t(16;17)(p13.2;q11.2), intron 3 - exon 6 - CRYM_000000 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-339 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.10274267A>G g.10180410A>G - - GRIN2A_000205 copied from GRIN variant database, check paper for 2nd variant PubMed: Carvill 2013 - - Unknown - - - - - DNA SEQ - - NDD GRINdb-135 PubMed: Carvill 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.10274267A>G g.10180410A>G - - GRIN2A_000205 copied from GRIN variant database, check paper for 2nd variant PubMed: Carvill 2013 - - Unknown - - - - - DNA SEQ - - NDD GRINdb-270 PubMed: Carvill 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.10274267A>G g.10180410A>G - - GRIN2A_000205 copied from GRIN variant database, check paper for 2nd variant PubMed: Carvill 2013 - - Unknown - - - - - DNA SEQ - - NDD GRINdb-271 PubMed: Carvill 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.90dup r.(?) p.(Pro31Serfs*107) Unknown - pathogenic g.10274179dup g.10180322dup 90dupT - GRIN2A_000204 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2013 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-272 PubMed: Lemke 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.90dup r.(?) p.(Pro31Serfs*107) Unknown - pathogenic g.10274179dup g.10180322dup 90dupT - GRIN2A_000204 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2013 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-273 PubMed: Lemke 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.90dup r.(?) p.(Pro31Serfs*107) Unknown - pathogenic g.10274179dup g.10180322dup 90dupT - GRIN2A_000204 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2013 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-274 PubMed: Lemke 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.90dup r.(?) p.(Pro31Serfs*107) Unknown - pathogenic g.10274179dup g.10180322dup 90dupT - GRIN2A_000204 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2013 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-275 PubMed: Lemke 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
-?/. - c.91C>A r.(?) p.(Pro31Thr) Unknown - likely benign g.10274178G>T g.10180321G>T GRIN2A(NM_001134407.3):c.91C>A (p.P31T) - GRIN2A_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.146G>A r.(?) p.(Arg49His) Unknown - VUS g.10274123C>T - GRIN2A(NM_001134407.3):c.146G>A (p.(Arg49His)) - GRIN2A_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.165G>A r.(?) p.(Trp55*) Unknown - pathogenic g.10274104C>T g.10180247C>T - - GRIN2A_000203 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - gene panel NDD GRINdb-276 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.172G>T r.(?) p.(Glu58*) Unknown - pathogenic g.10274097C>A g.10180240C>A - - GRIN2A_000202 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-136 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.172G>T r.(?) p.(Glu58*) Unknown - pathogenic g.10274097C>A g.10180240C>A - - GRIN2A_000202 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-137 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.176_179dup r.(?) p.(Ala61Glyfs*78) Unknown - pathogenic g.10274092_10274095dup g.10180235_10180238dup 176_179dupAGGC - GRIN2A_000201 copied from GRIN variant database, check paper for 2nd variant - - - Germline/De novo (untested) - - - - - DNA SEQ - gene panel NDD GRINdb-138 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
./. - c.222G>A r.(?) p.(Met74Ile) Unknown - VUS g.10274047C>T g.10180190C>T - - GRIN2A_000038 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_461:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.222G>A r.(?) p.(Met74Ile) Unknown - likely benign g.10274047C>T g.10180190C>T GRIN2A(NM_000833.5):c.222G>A (p.M74I), GRIN2A(NM_001134407.1):c.222G>A (p.(Met74Ile)) - GRIN2A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.222G>A r.(?) p.(Met74Ile) Unknown - likely benign g.10274047C>T - GRIN2A(NM_000833.5):c.222G>A (p.M74I), GRIN2A(NM_001134407.1):c.222G>A (p.(Met74Ile)) - GRIN2A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.236C>G r.(?) p.(Pro79Arg) Unknown - VUS g.10274033G>C g.10180176G>C - - GRIN2A_000037 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_610:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
+/. - c.236C>G r.(?) p.(Pro79Arg) Unknown - pathogenic g.10274033G>C - - - GRIN2A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.331C>T r.(?) p.(Gln111*) Unknown ACMG pathogenic g.10273938G>A - - - GRIN2A_000150 - PubMed: Mendonca 2021 - - Somatic - 0.035 - - - DNA SEQ-NG-I blood/FFPE tumor gene panel RB1 Patient 06 PubMed: Mendonca 2021 - M - Brazil - - - - - 1 Vanessa Mendonça
?/. - c.361T>C r.(?) p.(Phe121Leu) Unknown - VUS g.10273908A>G g.10180051A>G GRIN2A(NM_000833.3):c.361T>C (p.(Phe121Leu)) - GRIN2A_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.414+115G>A r.(=) p.(=) Unknown - likely benign g.10273740C>T g.10179883C>T GRIN2A(NM_000833.5):c.414+115G>A - GRIN2A_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.414+38900C>A r.(=) p.(=) Unknown - likely benign g.10234955G>T - GRIN2A(NM_001134407.3):c.414+38900C>A - GRIN2A_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.414+66968T>C r.(=) p.(=) Both (homozygous) - VUS g.10206887A>G g.10113030A>G - - GRIN2A_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.414+66968T>C r.(=) p.(=) Both (homozygous) - VUS g.10206887A>G g.10113030A>G - - GRIN2A_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.414+67014G>A r.(=) p.(=) Unknown - VUS g.10206841C>T g.10112984C>T - - GRIN2A_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.414+67203C>T r.(=) p.(=) Unknown - VUS g.10206652G>A g.10112795G>A - - GRIN2A_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.414+67203C>T r.(=) p.(=) Unknown - VUS g.10206652G>A g.10112795G>A - - GRIN2A_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.414+67429C>T r.(=) p.(=) Unknown - VUS g.10206426G>A g.10112569G>A - - GRIN2A_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.414+67429C>T r.(=) p.(=) Unknown - VUS g.10206426G>A g.10112569G>A - - GRIN2A_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.415-101530G>A r.(=) p.(=) Unknown - likely benign g.10133938C>T - GRIN2A(NM_001134407.3):c.415-101530G>A - GRIN2A_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.415-101525_415-101524del r.(=) p.(=) Unknown - likely benign g.10133937_10133938del - GRIN2A(NM_001134407.3):c.415-101525_415-101524del - GRIN2A_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.415-2A>G r.spl? p.? Unknown - pathogenic g.10032410T>C g.9938553T>C GRIN2A(NM_000833.5):c.415-2A>G - GRIN2A_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.415-2A>G r.(?) p.? Unknown - pathogenic g.10032410T>C g.9938553T>C - - GRIN2A_000079 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-139 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
-?/. - c.422C>T r.(?) p.(Thr141Met) Unknown - likely benign g.10032401G>A g.9938544G>A GRIN2A(NM_000833.5):c.422C>T (p.T141M), GRIN2A(NM_001134407.3):c.422C>T (p.T141M) - GRIN2A_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.422C>T r.(?) p.(Thr141Met) Unknown - likely benign g.10032401G>A g.9938544G>A GRIN2A(NM_000833.5):c.422C>T (p.T141M), GRIN2A(NM_001134407.3):c.422C>T (p.T141M) - GRIN2A_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.422C>T r.(?) p.(Thr141Met) Unknown - likely benign g.10032401G>A g.9938544G>A GRIN2A(NM_000833.5):c.422C>T (p.T141M), GRIN2A(NM_001134407.3):c.422C>T (p.T141M) - GRIN2A_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.445_448delins(69) r.(?) p.? Unknown - pathogenic g.10032375_10032378delinsN[69] g.9938518_9938521delinsN[69] 445_448delGCGTins69 - GRIN2A_000200 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - gene panel NDD GRINdb-140 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.487C>T r.(?) p.(Gln163*) Unknown - pathogenic g.10032336G>A g.9938479G>A - - GRIN2A_000199 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - gene panel NDD GRINdb-277 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.487C>T r.(?) p.(Gln163*) Unknown - pathogenic g.10032336G>A g.9938479G>A - - GRIN2A_000199 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-278 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
-?/. - c.498C>G r.(?) p.(Asp166Glu) Unknown - likely benign g.10032325G>C g.9938468G>C GRIN2A(NM_001134407.3):c.498C>G (p.D166E) - GRIN2A_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.498C>G r.(?) p.(Asp166Glu) Unknown - VUS g.10032325G>C g.9938468G>C GRIN2A(NM_001134407.3):c.498C>G (p.D166E) - GRIN2A_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.500G>A r.(?) p.(Trp167*) Unknown - pathogenic g.10032323C>T g.9938466C>T - - GRIN2A_000198 copied from GRIN variant database, check paper for 2nd variant - - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD GRINdb-141 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
?/. - c.502C>A r.(?) p.(His168Asn) Unknown - VUS g.10032321G>T - GRIN2A(NM_001134407.3):c.502C>A (p.H168N) - GRIN2A_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.547T>A r.(?) p.(Phe183Ile) Unknown - VUS g.10032276A>T g.9938419A>T - - GRIN2A_000036 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_724:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.547T>A r.(?) p.(Phe183Ile) Unknown - likely benign g.10032276A>T - GRIN2A(NM_001134407.3):c.547T>A (p.(Phe183Ile)) - GRIN2A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.551T>G r.(?) p.(Ile184Ser) Maternal (confirmed) - pathogenic (dominant) g.10032272A>C g.9938415A>C - - GRIN2A_000142 - PubMed: Lesca 2013 - - Germline - - - - - DNA SEQ - - EE Pat2 PubMed: Lesca 2013 - - - - - - - - - 1 Johan den Dunnen
+/. - c.594G>A r.(?) p.(Trp198*) Unknown - pathogenic g.10032229C>T g.9938372C>T - - GRIN2A_000197 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-142 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.594G>A r.(?) p.(Trp198*) Unknown - pathogenic g.10032229C>T g.9938372C>T - - GRIN2A_000197 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-143 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.594G>A r.(?) p.(Trp198*) Unknown - pathogenic g.10032229C>T g.9938372C>T - - GRIN2A_000197 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-144 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.594G>A r.(?) p.(Trp198*) Unknown - pathogenic g.10032229C>T g.9938372C>T - - GRIN2A_000197 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-145 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.594G>A r.(?) p.(Trp198*) Unknown - pathogenic g.10032229C>T g.9938372C>T - - GRIN2A_000197 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-279 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.594G>A r.(?) p.(Trp198*) Unknown - pathogenic g.10032229C>T g.9938372C>T - - GRIN2A_000197 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-280 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.594G>A r.(?) p.(Trp198*) Unknown - pathogenic g.10032229C>T g.9938372C>T - - GRIN2A_000197 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-281 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.594G>A r.(?) p.(Trp198*) Unknown - pathogenic g.10032229C>T g.9938372C>T - - GRIN2A_000197 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-282 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.594G>A r.(?) p.(Trp198*) Unknown - pathogenic g.10032229C>T g.9938372C>T - - GRIN2A_000197 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-283 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.594G>A r.(?) p.(Trp198*) Unknown - pathogenic g.10032229C>T g.9938372C>T - - GRIN2A_000197 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-284 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
?/. 4 c.605A>G r.(?) p.(Asn202Ser) Unknown - VUS g.10032218T>C g.9938361T>C - - GRIN2A_000216 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1918 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.623C>T r.(?) p.(Thr208Ile) Unknown - VUS g.10032200G>A g.9938343G>A - - GRIN2A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.627del r.(?) p.(Phe210Leufs*10) Unknown - pathogenic g.10032197del g.9938340del 627delC - GRIN2A_000196 - PubMed: Retterer 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES (single) NDD - PubMed: Retterer 2015 - - - - - - - - - 1 Johan den Dunnen
+/. - c.627del r.(?) p.(Phe210Leufs*10) Unknown - pathogenic g.10032197del g.9938340del 627delC - GRIN2A_000196 copied from GRIN variant database, check paper for 2nd variant - - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-147 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
?/. - c.638C>T r.(?) p.(Ala213Val) Unknown - VUS g.10032185G>A - GRIN2A(NM_001134407.3):c.638C>T (p.A213V) - GRIN2A_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.652C>T r.0 p.0 Maternal (confirmed) - pathogenic g.10032171G>A g.9938314G>A - - GRIN2A_000013 no mRNA expression PubMed: Endele 2010, OMIM:var0001 - - Germline yes 1/254 cases - - - DNA, RNA RT-PCR, SEQ - - ID - PubMed: Endele 2010 3-generation family, 3 affecteds (son, mother, grandmother) M no Germany - - - - - 3 Johan den Dunnen
+/. - c.652C>T r.(?) p.(Gln218*) Unknown - pathogenic g.10032171G>A g.9938314G>A - - GRIN2A_000013 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-148 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
-?/. - c.662A>G r.(?) p.(Lys221Arg) Unknown - likely benign g.10032161T>C g.9938304T>C GRIN2A(NM_001134407.3):c.662A>G (p.K221R) - GRIN2A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.692G>A r.(?) p.(Cys231Tyr) Unknown - VUS g.10032131C>T g.9938274C>T - - GRIN2A_000035 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_611:0/1:ATYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
+/. - c.692G>A r.(?) p.(Cys231Tyr) Unknown - pathogenic g.10032131C>T g.9938274C>T - - GRIN2A_000035 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2013 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-246 PubMed: Lemke 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.692G>A r.(?) p.(Cys231Tyr) Unknown - pathogenic g.10032131C>T g.9938274C>T - - GRIN2A_000035 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2013 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-247 PubMed: Lemke 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.692G>A r.(?) p.(Cys231Tyr) Unknown - pathogenic g.10032131C>T g.9938274C>T - - GRIN2A_000035 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2013 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-248 PubMed: Lemke 2013 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
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