Full data view for gene GRIN1

Information The variants shown are described using the NM_007327.3 transcript reference sequence.

152 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.? r.(?) p.? Parent #1 - pathogenic g.? - - - PTCH1_000000 copied from GRIN variant database, check paper for 2nd variant Ortega-Moreno - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD GRINdb-368 Ortega-Moreno copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.? Parent #1 - pathogenic g.? - - - PTCH1_000000 copied from GRIN variant database, check paper for 2nd variant - - - Germline/De novo (untested) - - - - - DNA SEQ - gene panel 2016 NDD GRINdb-384 - copied from {DB:GRIN} F - - - - - - - 1 Johan den Dunnen
-?/. - c.264C>T r.(?) p.(Tyr88=) Unknown - likely benign g.140036470C>T - GRIN1(NM_007327.3):c.264C>T (p.Y88=) - GRIN1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. i c.393+37G>A r.(=) p.(=) Unknown - likely benign g.140036636G>A g.137142184G>A - - GRIN1_000011 - PubMed: Hamdan 2011 - - Unknown - 3/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-?/. i c.393+37G>A r.(=) p.(=) Unknown - likely benign g.140036636G>A g.137142184G>A - - GRIN1_000011 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
-?/. - c.394-1095T>A r.(=) p.(=) Unknown - likely benign g.140039083T>A - GRIN1(NM_007327.4):c.394-1095T>A - GRIN1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.416G>A r.(?) p.(Arg139His) Unknown - VUS g.140040200G>A g.137145748G>A - - GRIN1_000018 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_425:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
?/. - c.466C>G r.(?) p.(Arg156Gly) Unknown - VUS g.140040250C>G - GRIN1(NM_007327.4):c.466C>G (p.(Arg156Gly)) - GRIN1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.510C>A r.(?) p.(Asp170Glu) Unknown - likely benign g.140040294C>A g.137145842C>A - - GRIN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.520C>G r.(?) p.(Arg174Gly) Unknown - VUS g.140040304C>G - GRIN1(NM_007327.4):c.520C>G (p.(Arg174Gly)) - GRIN1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.524C>T r.(?) p.(Ala175Val) Unknown - VUS g.140040308C>T - GRIN1(NM_007327.3):c.524C>T (p.(Ala175Val)) - GRIN1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.531G>A r.(?) p.(Gln177=) Unknown - likely benign g.140040315G>A g.137145863G>A - - GRIN1_000003 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
?/. - c.536G>A r.(?) p.(Arg179His) Unknown - VUS g.140040320G>A g.137145868G>A - - GRIN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.567C>G r.(?) p.(Ser189=) Unknown - likely benign g.140040351C>G g.137145899C>G GRIN1(NM_007327.4):c.567C>G (p.S189=) - GRIN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.614C>T r.(?) p.(Thr205Met) Unknown - VUS g.140043504C>T g.137149052C>T GRIN1(NM_007327.4):c.614C>T (p.T205M) - GRIN1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.649C>T r.(?) p.(Arg217Trp) Both (homozygous) - pathogenic g.140043539C>T g.137149087C>T - - GRIN1_000059 copied from GRIN variant database PubMed: Lemke 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES (single) 2014 NDD GRINdb-1 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
+/. - c.649C>T r.(?) p.(Arg217Trp) Both (homozygous) - pathogenic g.140043539C>T g.137149087C>T - - GRIN1_000059 copied from GRIN variant database PubMed: Lemke 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES (single) 2014 NDD GRINdb-2 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
-?/. - c.654C>T r.(?) p.(Val218=) Unknown - likely benign g.140043544C>T g.137149092C>T GRIN1(NM_007327.3):c.654C>T (p.V218=) - GRIN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.660C>T r.(?) p.(Ile220=) Unknown - VUS g.140043550C>T g.137149098C>T GRIN1(NM_007327.3):c.660C>T (p.I220=) - GRIN1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.679G>C r.(?) p.(Asp227His) Both (homozygous) - likely pathogenic g.140051128G>C g.137156676G>C p.(Asp248His) - GRIN1_000014 - PubMed: Bosch 2016, Journal: Bosch 2016 - - Germline - - - - - DNA SEQ-NG - - CVI, ID - PubMed: Bosch 2016, Journal: Bosch 2016 - F yes - - - - - - 1 Danielle Bosch
+?/. 5 c.679G>C r.(?) p.(Asp227His) Both (homozygous) - likely pathogenic g.140051128G>C g.137156676G>C - - GRIN1_000014 - - - - Germline yes - - - - DNA SEQ-NG-I blood - MRT - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - M yes Morocco - - - - - 1 Gaetan Lesca
+/. - c.679G>C r.(?) p.(Asp227His) Both (homozygous) - pathogenic g.140051128G>C g.137156676G>C - - GRIN1_000014 copied from GRIN variant database PubMed: Rossi 2017 - - Germline - - - - - DNA SEQ - gene panel NDD GRINdb-355 PubMed: Rossi 2017 copied from {DB:GRIN} F - - - - - - - 1 Johan den Dunnen
+/. - c.679G>C r.(?) p.(Asp227His) Both (homozygous) - pathogenic g.140051128G>C g.137156676G>C - - GRIN1_000014 copied from GRIN variant database PubMed: Rossi 2017 - - Germline - - - - - DNA SEQ - gene panel NDD GRINdb-356 PubMed: Rossi 2017 copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
?/. - c.679G>C r.(?) p.(Asp227His) Unknown - VUS g.140051128G>C - GRIN1(NM_007327.3):c.679G>C (p.(Asp227His)) - GRIN1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.693A>C r.(?) p.(Val231=) Parent #1 - likely benign g.140051142A>C g.137156690A>C - - GRIN1_000004 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
-?/. - c.693A>C r.(?) p.(Val231=) Unknown - likely benign g.140051142A>C g.137156690A>C GRIN1(NM_007327.3):c.693A>C (p.V231=) - GRIN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.780C>T r.(?) p.(Arg260=) Unknown - likely benign g.140051229C>T - GRIN1(NM_007327.3):c.780C>T (p.R260=) - GRIN1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.789A>G r.(?) p.(Pro263=) Unknown - benign g.140051238A>G g.137156786A>G - - GRIN1_000012 incl. homozygous cases PubMed: Hamdan 2011 - rs6293 Unknown - 94/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-/. - c.789A>G r.(?) p.(Pro263=) Unknown - benign g.140051238A>G g.137156786A>G - - GRIN1_000012 - PubMed: Hamdan 2011 - rs6293 Unknown - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
-/. - c.789A>G r.(?) p.(Pro263=) Unknown - benign g.140051238A>G g.137156786A>G - - GRIN1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.793+5G>A r.spl? p.? Unknown - likely benign g.140051247G>A g.137156795G>A GRIN1(NM_000832.6):c.793+5G>A (p.?) - GRIN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.855G>A r.(?) p.(Val285=) Unknown - benign g.140051376G>A g.137156924G>A - - GRIN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864G>A r.(?) p.(Val288=) Unknown - likely benign g.140051385G>A g.137156933G>A GRIN1(NM_007327.3):c.864G>A (p.V288=) - GRIN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.952G>C r.(?) p.(Gly318Arg) Unknown - VUS g.140051473G>C - GRIN1(NM_007327.3):c.952G>C (p.(Gly318Arg)), GRIN1(NM_007327.4):c.952G>C (p.G318R) - GRIN1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.952G>C r.(?) p.(Gly318Arg) Unknown - VUS g.140051473G>C - GRIN1(NM_007327.3):c.952G>C (p.(Gly318Arg)), GRIN1(NM_007327.4):c.952G>C (p.G318R) - GRIN1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.968+15C>T r.(=) p.(=) Unknown - likely benign g.140051504C>T g.137157052C>T - - GRIN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1045G>T r.(?) p.(Ala349Ser) Unknown - VUS g.140052907G>T - GRIN1(NM_007327.3):c.1045G>T (p.A349S) - GRIN1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1066del r.(?) p.(Leu356Cysfs*43) Unknown - VUS g.140052928del g.137158476del - - GRIN1_000017 frameshift_deletion PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_497:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.1121C>T r.(?) p.(Pro374Leu) Unknown - likely benign g.140053080C>T - GRIN1(NM_007327.3):c.1121C>T (p.(Pro374Leu)) - GRIN1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1191A>C r.(?) p.(Arg397Ser) Unknown ACMG likely pathogenic (dominant) g.140053150A>C - A1191C (R397S) - GRIN1_000092 - PubMed: Halvardson 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Fam9 PubMed: Halvardson 2016 - M - Sweden - - - - - 1 Johan den Dunnen
-?/. I c.1197+27T>G r.(=) p.(=) Unknown - likely benign g.140053183T>G g.137158731T>G - - GRIN1_000005 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
?/. - c.1252G>A r.(?) p.(Gly418Arg) Unknown - VUS g.140055562G>A - GRIN1(NM_007327.3):c.1252G>A (p.G418R) - GRIN1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1255A>G r.(?) p.(Thr419Ala) Unknown - VUS g.140055565A>G g.137161113A>G GRIN1(NM_007327.3):c.1255A>G (p.T419A) - GRIN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1288C>T r.(?) p.(Pro430Ser) Unknown - VUS g.140055598C>T g.137161146C>T GRIN1(NM_000832.6):c.1288C>T (p.(Pro430Ser)) - GRIN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. i c.1339+36G>C r.(=) p.(=) Unknown - likely benign g.140055685G>C g.137161233G>C - - GRIN1_000010 - PubMed: Hamdan 2011 - - Unknown - 2/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-?/. i c.1339+36G>C r.(=) p.(=) Unknown - likely benign g.140055685G>C g.137161233G>C - - GRIN1_000010 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
-?/. - c.1340-4C>A r.spl? p.? Unknown - likely benign g.140055737C>A g.137161285C>A GRIN1(NM_007327.4):c.1340-4C>A - GRIN1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1422C>A r.(?) p.(Tyr474Ter) Both (homozygous) ACMG pathogenic g.140055823C>A g.137161371C>A - - GRIN1_000096 ACMG PM2, PVS1, PM3_sup PubMed: Brock 2023 - - Germline - - - - - DNA SEQ, SEQ-NG blood gene panel NDD Pat8 PubMed: Brock 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
-/. i c.1467+8G>A r.(=) p.(=) Unknown - benign g.140055876G>A g.137161424G>A - - GRIN1_000013 - PubMed: Hamdan 2011 - rs10747050 Unknown - 174/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-/. i c.1467+8G>A r.(=) p.(=) Unknown - benign g.140055876G>A g.137161424G>A - - GRIN1_000013 - PubMed: Hamdan 2011 - rs10747050 Unknown - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
-/. - c.1467+8G>A r.(=) p.(=) Unknown - benign g.140055876G>A g.137161424G>A GRIN1(NM_007327.4):c.1467+8G>A - GRIN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1467+8G>A r.(=) p.(=) Unknown - benign g.140055876G>A g.137161424G>A GRIN1(NM_007327.4):c.1467+8G>A - GRIN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1513C>T r.(?) p.(Leu505=) Unknown - likely benign g.140056421C>T g.137161969C>T GRIN1(NM_007327.3):c.1513C>T (p.L505=) - GRIN1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1518del r.(?) p.(Ser507Alafs*6) Unknown - likely pathogenic g.140056426del - - - GRIN1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1548G>A r.(?) p.(Pro516=) Unknown - likely benign g.140056456G>A g.137162004G>A - - GRIN1_000006 - PubMed: Hamdan 2011 - rs75783429 Unknown - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
-/. - c.1548G>A r.(=) p.(=) Parent #1 - benign g.140056456G>A g.137162004G>A - - GRIN1_000006 187 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75783429 Germline - 187/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 187 Mohammed Faruq
-/. - c.1548G>A r.(=) p.(=) Both (homozygous) - benign g.140056456G>A g.137162004G>A - - GRIN1_000006 9 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75783429 Germline - 9/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
?/. - c.1566G>C r.(?) p.(Glu522Asp) Unknown - VUS g.140056474G>C g.137162022G>C GRIN1(NM_007327.3):c.1566G>C (p.E522D) - GRIN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1584G>A r.(?) p.(Glu528=) Unknown - benign g.140056492G>A g.137162040G>A GRIN1(NM_007327.3):c.1584G>A (p.E528=) - GRIN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1592A>G r.(?) p.(Lys531Arg) Unknown - likely pathogenic g.140056500A>G g.137162048A>G GRIN1(NM_007327.3):c.1592A>G (p.K531R) - GRIN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1643G>A r.(?) p.(Arg548Gln) Parent #1 - pathogenic g.140056634G>A g.137162182G>A - - GRIN1_000025 copied from GRIN variant database, check paper for 2nd variant - - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD GRINdb-396 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+?/. - c.1643G>A r.(?) p.(Arg548Gln) Unknown - likely pathogenic g.140056634G>A - GRIN1(NM_007327.4):c.1643G>A (p.R548Q) - GRIN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1645A>C r.(?) p.(Ser549Arg) Unknown - pathogenic g.140056636A>C g.137162184A>C - - GRIN1_000060 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-3 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
+/. - c.1645A>G r.(?) p.(Ser549Gly) Unknown ACMG pathogenic (dominant) g.140056636A>G g.137162184A>G - - GRIN1_000057 - PubMed: Helbig 2016 - - De novo - - - - - DNA SEQ-NG - WES seizures Pat42 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1652T>C r.(?) p.(Leu551Pro) Unknown - pathogenic g.140056643T>C g.137162191T>C - - GRIN1_000061 - PubMed: Retterer 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD - PubMed: Retterer 2015 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1656C>A r.(?) p.(Asp552Glu) Unknown - pathogenic g.140056647C>A g.137162195C>A - - GRIN1_000062 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-228 PubMed: Lemke 2016 copied from {DB:GRIN} F - - - - - - - 1 Johan den Dunnen
+/. - c.1656C>A r.(?) p.(Asp552Glu) Unknown - pathogenic g.140056647C>A g.137162195C>A - - GRIN1_000062 copied from GRIN variant database, check paper for 2nd variant PubMed: Ohba 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-229 PubMed: Ohba 2015 copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
+/. - c.1658C>T r.(?) p.(Ser553Leu) Unknown ACMG pathogenic (dominant) g.140056649C>T g.137162197C>T - - GRIN1_000097 ACMG PM2, PP2, PP3, PS2_str, PM1 PubMed: Brock 2023 - - De novo - - - - - DNA SEQ, SEQ-NG saliva WES NDD Pat1 PubMed: Brock 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - United Kingdom (Great Britain) - - - - 1 Johan den Dunnen
+/. - c.1666C>T r.(?) p.(Gln556*) Both (homozygous) - pathogenic g.140056657C>T g.137162205C>T - - GRIN1_000063 copied from GRIN variant database PubMed: Lemke 2016 - - Germline - - - - - DNA SEQ - gene panel NDD GRINdb-340 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
+/. - c.1666C>T r.(?) p.(Gln556*) Unknown - pathogenic g.140056657C>T g.137162205C>T - - GRIN1_000063 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2016 - - Germline - - - - - DNA SEQ - gene panel NDD GRINdb-341 PubMed: Lemke 2016 copied from {DB:GRIN} F - - - - - - - 1 Johan den Dunnen
+/. - c.1666C>T r.(?) p.(Gln556*) Unknown - pathogenic g.140056657C>T g.137162205C>T - - GRIN1_000063 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2016 - - Germline - - - - - DNA SEQ - gene panel NDD GRINdb-342 PubMed: Lemke 2016 copied from {DB:GRIN} F - - - - - - - 1 Johan den Dunnen
+?/. - c.1667A>G r.(?) p.(Gln556Arg) Unknown - likely pathogenic g.140056658A>G - - - GRIN1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1670C>G r.(?) p.(Pro557Arg) Unknown - pathogenic (dominant) g.140056661C>G g.137162209C>G - - GRIN1_000056 - PubMed: Redin 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - 219-gene ID panel ID APN-63 PubMed: Redin 2014 analysis 106 patients; 3-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - 1 Johan den Dunnen
+/. - c.1676A>G r.(?) p.(Gln559Arg) Parent #1 - pathogenic g.140056667A>G g.137162215A>G - - GRIN1_000064 copied from GRIN variant database, check paper for 2nd variant PubMed: Tan 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD GRINdb-376 PubMed: Tan 2017 copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.1676A>G r.(?) p.(Gln559Arg) Parent #1 - pathogenic g.140056667A>G g.137162215A>G - - GRIN1_000064 copied from GRIN variant database, check paper for 2nd variant - - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-378 - copied from {DB:GRIN} F - - - - - - - 1 Johan den Dunnen
+/. 12 c.1679_1681dup r.(?) p.(Ser560dup) Unknown - pathogenic g.140056670_140056672dup g.137162218_137162220dup - - GRIN1_000002 - PubMed: Hamdan 2011 - - De novo - - - - - DNA SEQ - - ID - PubMed: Hamdan 2011 - M - Canada - >07y06m - - - 1 Johan den Dunnen
+/. 12 c.1679_1681dup r.(?) p.Ser560dup Unknown - NA g.140056670_140056672dup g.137162218_137162220dup - - GRIN1_000002 electrophysiology of Xenopus oocyte coinjection with NR2B shows almost blocked activity of the receptor PubMed: Hamdan 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1852G>C r.(?) p.(Gly618Arg) Unknown - pathogenic g.140056956G>C g.137162504G>C - - GRIN1_000065 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-232 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
+?/. - c.1852G>C r.(?) p.(Gly618Arg) Unknown - likely pathogenic (dominant) g.140056956G>C g.137162504G>C - - GRIN1_000065 - PubMed: Poli 2024 981271 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? Pat132 PubMed: Poli 2024 - F - Chile - - - - - 1 Johan den Dunnen
+/. - c.1854_1859dup r.(?) p.(Ile619_Gly620dup) Parent #1 - pathogenic g.140056958_140056963dup g.137162506_137162511dup - - GRIN1_000066 copied from GRIN variant database, check paper for 2nd variant - - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD GRINdb-377 - copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
+/. - c.1858G>A r.(?) p.(Gly620Arg) Unknown - pathogenic g.140056962G>A g.137162510G>A - - GRIN1_000067 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-233 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
-?/. - c.1864+10C>T r.(=) p.(=) Unknown - likely benign g.140056978C>T - GRIN1(NM_007327.3):c.1864+10C>T - GRIN1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. i c.1864+17C>T r.(=) p.(=) Unknown - likely benign g.140056985C>T g.137162533C>T - - GRIN1_000008 - PubMed: Hamdan 2011 - - Unknown - 1/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-?/. i c.1864+17C>T r.(=) p.(=) Unknown - likely benign g.140056985C>T g.137162533C>T - - GRIN1_000008 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
+?/. - c.1912G>A r.(?) p.(Gly638Ser) Unknown - likely pathogenic g.140057090G>A - - - GRIN1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1913G>C r.(?) p.(Gly638Ala) Parent #1 - pathogenic g.140057091G>C g.137162639G>C - - GRIN1_000068 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-360 - copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
+/. - c.1913G>C r.(?) p.(Gly638Ala) Parent #1 - pathogenic g.140057091G>C g.137162639G>C - - GRIN1_000068 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-371 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.1923G>A r.(?) p.(Met641Ile) Unknown - pathogenic g.140057101G>A g.137162649G>A - - GRIN1_000069 copied from GRIN variant database, check paper for 2nd variant PubMed: Ohba 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-234 PubMed: Ohba 2015 copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
+/. - c.1933G>T r.(?) p.(Ala645Ser) Unknown - pathogenic g.140057111G>T g.137162659G>T - - GRIN1_000070 copied from GRIN variant database, check paper for 2nd variant PubMed: Lemke 2016 - - Unknown - - - - - DNA SEQ - - NDD GRINdb-235 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
+/. - c.1940A>C r.(?) p.(Tyr647Ser) Unknown - pathogenic g.140057118A>C g.137162666A>C - - GRIN1_000071 copied from GRIN variant database, check paper for 2nd variant PubMed: Epi4K 2013 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-236 PubMed: Epi4K 2013 copied from {DB:GRIN} F - - - - - - - 1 Johan den Dunnen
+/. - c.1940A>G r.(?) p.(Tyr647Cys) Unknown - pathogenic g.140057118A>G g.137162666A>G - - GRIN1_000072 copied from GRIN variant database, check paper for 2nd variant - - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD GRINdb-346 - copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
+/. - c.1949A>T r.(?) p.(Asn650Ile) Parent #1 - pathogenic g.140057127A>T g.137162675A>T Asn650Ile - GRIN1_000073 copied from GRIN variant database, check paper for 2nd variant - - - Unknown - - - - - DNA SEQ - - NDD GRINdb-370 - copied from {DB:GRIN} - - - - - - - - 1 Johan den Dunnen
+/. - c.1950C>G r.(?) p.(Asn650Lys) Unknown - pathogenic g.140057128C>G g.137162676C>G - - GRIN1_000074 copied from GRIN variant database, check paper for 2nd variant PubMed: Ohba 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES (single) NDD GRINdb-237 PubMed: Ohba 2015 copied from {DB:GRIN} M - - - - - - - 1 Johan den Dunnen
?/. - c.1955C>A r.(?) p.(Ala652Glu) Unknown - VUS g.140057133C>A g.137162681C>A GRIN1(NM_007327.3):c.1955C>A (p.A652E) - GRIN1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1957G>A r.(?) p.(Ala653Thr) Unknown ACMG likely pathogenic (dominant) g.140057135G>A g.137162683G>A - - GRIN1_000098 ACMG PM2, PP2, PP3, PS2_mod, PM1 PubMed: Brock 2023 - - De novo - - - - - DNA SEQ, SEQ-NG amniocentesis WES NDD Pat3 PubMed: Brock 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.1972G>T r.(?) p.(Asp658Tyr) Unknown ACMG likely pathogenic (dominant) g.140057150G>T g.137162698G>T - - GRIN1_000099 ACMG PM2, PP2, PP3, PS2_mod, PM1 PubMed: Brock 2023 - - De novo - - - - - DNA SEQ, SEQ-NG saliva WES NDD Pat2 PubMed: Brock 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - United Kingdom (Great Britain) - - - - 1 Johan den Dunnen
+/. - c.1975C>T r.(?) p.(Arg659Trp) Unknown - pathogenic g.140057153C>T g.137162701C>T - - GRIN1_000075 copied from GRIN variant database, check paper for 2nd variant - - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD GRINdb-345 - copied from {DB:GRIN} F - - - - - - - 1 Johan den Dunnen
+?/. - c.1976G>A r.(?) p.(Arg659Gln) Unknown - likely pathogenic g.140057154G>A g.137162702G>A GRIN1(NM_007327.4):c.1976G>A (p.R659Q) - GRIN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1976G>A r.(?) p.(Arg659Gln) Unknown - likely pathogenic g.140057154G>A - GRIN1(NM_007327.4):c.1976G>A (p.R659Q) - GRIN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1978C>T r.(?) p.(Pro660Ser) Unknown - likely pathogenic g.140057156C>T - GRIN1(NM_007327.3):c.1978C>T (p.(Pro660Ser)) - GRIN1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.