Full data view for gene GRIA3

Information The variants shown are described using the NM_007325.4 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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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.-3_-1= r.(=) p.(=) Unknown - benign g.122318386_122318387insG g.123184533dup GRIA3(NM_000828.4):c.-2_-1insG - GRIA3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2dup r.(?) p.(=) Maternal (inferred) - VUS g.122318386_122318387insGG g.123184534dup -2_-1insG - GRIA3_000065 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-2dup r.(?) p.(=) Maternal (inferred) - VUS g.122318386_122318387insGG g.123184534dup -2_-1insG - GRIA3_000065 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.-2dup r.(?) p.(=) Unknown - benign g.122318386dup g.123184533dup GRIA3(NM_000828.4):c.-2dupA - GRIA3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2G>C r.(?) p.(=) Unknown - benign g.122318387dup g.123184535dup GRIA3(NM_000828.4):c.-1dupC - GRIA3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2_-1delinsCG r.(?) p.(=) Unknown - benign g.122318387_122318388insG g.123184535_123184536insG GRIA3(NM_000828.4):c.-1_1insG - GRIA3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.0 r.0 p.0 Unknown - pathogenic (recessive) g.(122000000_122100000)_(122460000_122560000)del - - - GRIA3_000063 0.4 Mb deletion Xq25 (122.00–122.40 Mb) PubMed: Wu 2007 - - Germline - - - - - DNA arrayCGH - - MRX;IDX 17989220-Pat PubMed: Wu 2007 - M no - - - - - - 1 Johan den Dunnen
-?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely benign g.122318389T>C - GRIA3(NM_000828.4):c.2T>C (p.M1?) - GRIA3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.106A>G r.(?) p.(Ile36Val) Unknown - VUS g.122318493A>G g.123184641A>G GRIA3(NM_000828.4):c.106A>G (p.I36V) - GRIA3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159T>C r.(?) p.(Phe53=) Unknown - likely benign g.122319733T>C g.123185881T>C GRIA3(NM_001256743.1):c.158T>C (p.F53S), GRIA3(NM_001256743.2):c.158T>C (p.F53S) - GRIA3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.159T>C r.(?) p.(Phe53=) Unknown - VUS g.122319733T>C - GRIA3(NM_001256743.1):c.158T>C (p.F53S), GRIA3(NM_001256743.2):c.158T>C (p.F53S) - GRIA3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.179C>T r.(?) p.(Thr60Ile) Unknown - VUS g.122319753C>T g.123185901C>T GRIA3(NM_000828.4):c.179C>T (p.(Thr60Ile)) - GRIA3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.179C>T r.(?) p.(Thr60Ile) Unknown - likely benign g.122319753C>T g.123185901C>T GRIA3(NM_000828.4):c.179C>T (p.(Thr60Ile)) - GRIA3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.268+16761dup r.(=) p.(=) Maternal (inferred) - VUS g.122336603dup g.123202751dup - - GRIA3_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.268+16761dup r.(=) p.(=) Maternal (inferred) - VUS g.122336603dup g.123202751dup - - GRIA3_000032 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.268+16761dup r.(=) p.(=) Maternal (inferred) - VUS g.122336603dup g.123202751dup - - GRIA3_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.268+16761dup r.(=) p.(=) Maternal (inferred) - VUS g.122336603dup g.123202751dup - - GRIA3_000032 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.268+16761dup r.(=) p.(=) Unknown - benign g.122336603dup g.123202751dup GRIA3(NM_000828.4):c.268+16761dupG, GRIA3(NM_001256743.1):c.380dupG, GRIA3(NM_001256743.2):c.380dupG (p.G128Wfs*16), GRIA3(NM_001256743.2):c.384del... - GRIA3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.268+16761dup r.(=) p.(=) Unknown - likely benign g.122336603dup g.123202751dup GRIA3(NM_000828.4):c.268+16761dupG, GRIA3(NM_001256743.1):c.380dupG, GRIA3(NM_001256743.2):c.380dupG (p.G128Wfs*16), GRIA3(NM_001256743.2):c.384del... - GRIA3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.268+16761dup r.(=) p.(=) Unknown - benign g.122336603dup g.123202751dup GRIA3(NM_000828.4):c.268+16761dupG, GRIA3(NM_001256743.1):c.380dupG, GRIA3(NM_001256743.2):c.380dupG (p.G128Wfs*16), GRIA3(NM_001256743.2):c.384del... - GRIA3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.268+16762_268+16763insG r.(=) p.(=) Unknown - benign g.122336604_122336605insG g.123202752_123202753insG GRIA3(NM_001256743.2):c.385dupG (p.A129Gfs*15) - GRIA3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.268+18363T>A r.(=) p.(=) Maternal (inferred) - VUS g.122338205T>A g.123204353C>A - - GRIA3_000024 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.268+18363T>A r.(=) p.(=) Maternal (inferred) - VUS g.122338205T>A g.123204353C>A - - GRIA3_000024 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.268+18405C>A r.(=) p.(=) Unknown - VUS g.122338247C>A g.123204395T>A GRIA3(NM_000828.4):c.268+18405C>A (p.?) - GRIA3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.279G>T r.(?) p.(Gln93His) Unknown - VUS g.122387164G>T g.123253313G>T GRIA3(NM_000828.4):c.279G>T (p.Q93H) - GRIA3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.397G>A r.(?) p.(Ala133Thr) Unknown - likely benign g.122387282G>A - GRIA3(NM_000828.4):c.397G>A (p.A133T) - GRIA3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.509-244A>C r.(=) p.(=) Maternal (inferred) - VUS g.122459633A>C g.123325782A>C - - GRIA3_000027 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.509-244A>C r.(=) p.(=) Maternal (inferred) - VUS g.122459633A>C g.123325782A>C - - GRIA3_000027 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.573G>T r.(?) p.(Arg191Ser) Unknown ACMG VUS g.122459941G>T - - - GRIA3_000088 - Leonardi 2022, submitted - - Germline - - - - - DNA SEQ-NG-IT - Gene panel MRXSCJ PD-4009 Leonardi 2022, submitted diagnosed by Movement Disorders Unit, Dept. of Neuroscience, University of Padua, Padua, Italy F no (Italy) - - - - - 1 Emanuela Leonardi
-?/. - c.611G>A r.(?) p.(Arg204His) Unknown - likely benign g.122459979G>A - GRIA3(NM_000828.4):c.611G>A (p.R204H) - GRIA3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.616A>G r.(?) p.(Ile206Val) Unknown - VUS g.122459984A>G g.123326133A>G GRIA3(NM_000828.4):c.616A>G (p.I206V) - GRIA3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.626T>C r.(?) p.(Met209Thr) Unknown - likely benign g.122459994T>C g.123326143T>C GRIA3(NM_000828.4):c.626T>C (p.M209T) - GRIA3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647G>A r.(?) p.(Arg216Gln) Unknown - VUS g.122460015G>A g.123326164G>A GRIA3(NM_000828.4):c.647G>A (p.R216Q) - GRIA3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.670G>T r.(?) p.(Glu224Ter) Unknown - pathogenic g.122460038G>T g.123326187G>T - - GRIA3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.670G>T r.(?) p.(Glu224*) Maternal (confirmed) - pathogenic (recessive) g.122460038G>T g.123326187G>T GRIA3 E224X - GRIA3_000055 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamN21 PubMed: Hu 2016 family, 5 affected, 4 unaffected heterozygous carrier females M - - - - - - - 5 Johan den Dunnen
-?/. - c.696+5G>A r.spl? p.? Unknown - likely benign g.122460069G>A g.123326218G>A GRIA3(NM_000828.4):c.696+5G>A - GRIA3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.696+156del r.(=) p.(=) Maternal (inferred) - VUS g.122460220del g.123326369del - - GRIA3_000030 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.696+156del r.(=) p.(=) Unknown - VUS g.122460220del g.123326369del - - GRIA3_000030 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.696+166_696+173del r.(=) p.(=) Unknown - VUS g.122460230_122460237del g.123326379_123326386del - - GRIA3_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.696+169_696+173del r.(=) p.(=) Maternal (inferred) - VUS g.122460233_122460237del g.123326382_123326386del - - GRIA3_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.696+169_696+173del r.(=) p.(=) Unknown - VUS g.122460233_122460237del g.123326382_123326386del - - GRIA3_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.751-16T>C r.(=) p.(=) Maternal (inferred) - VUS g.122528803T>C g.123394952T>C - - GRIA3_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.751-16T>C r.(=) p.(=) Maternal (inferred) - VUS g.122528803T>C g.123394952T>C - - GRIA3_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.751-16T>C r.(=) p.(=) Unknown - benign g.122528803T>C g.123394952T>C GRIA3(NM_000828.4):c.751-16T>C - GRIA3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.913-15A>G r.(=) p.(=) Unknown - likely benign g.122532472A>G g.123398621A>G GRIA3(NM_000828.4):c.913-15A>G - GRIA3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.982C>T r.(?) p.(Arg328Ter) Unknown - pathogenic g.122532556C>T g.123398705C>T - - GRIA3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1081-38G>A r.(=) p.(=) Unknown - benign g.122536807G>A g.123402956G>A GRIA3(NM_000828.4):c.1081-38G>A - GRIA3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1125T>C r.(?) p.(Tyr375=) Unknown - likely benign g.122536889T>C - GRIA3(NM_000828.4):c.1125T>C (p.Y375=) - GRIA3_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1166A>C r.(?) p.(Lys389Thr) Unknown - likely benign g.122536930A>C g.123403079A>C GRIA3(NM_000828.4):c.1166A>C (p.K389T) - GRIA3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1166A>C r.(?) p.(Lys389Thr) Unknown - likely benign g.122536930A>C - GRIA3(NM_000828.4):c.1166A>C (p.K389T) - GRIA3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1181G>A r.(?) p.(Arg394Gln) Unknown - benign g.122536945G>A g.123403094G>A GRIA3(NM_000828.4):c.1181G>A (p.R394Q), GRIA3(NM_007325.4):c.1181G>A (p.W394*) - GRIA3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1181G>A r.(?) p.(Arg394Gln) Unknown - benign g.122536945G>A g.123403094G>A GRIA3(NM_000828.4):c.1181G>A (p.R394Q), GRIA3(NM_007325.4):c.1181G>A (p.W394*) - GRIA3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1185+9C>A r.(=) p.(=) Unknown - likely benign g.122536958C>A - GRIA3(NM_000828.4):c.1185+9C>A - GRIA3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1190G>A r.(?) p.(Gly397Asp) Unknown - likely pathogenic g.122537267G>A - - - GRIA3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1200T>C r.(=) p.(=) Maternal (inferred) - VUS g.122537277T>C g.123403426T>C - - GRIA3_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1200T>C r.(=) p.(=) Maternal (inferred) - VUS g.122537277T>C g.123403426T>C - - GRIA3_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.1200T>C r.(?) p.(Asn400=) Unknown - benign g.122537277T>C g.123403426T>C GRIA3(NM_000828.4):c.1200T>C (p.N400=) - GRIA3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1200T>C r.(?) p.(=) Parent #1 - likely benign g.122537277T>C g.123403426T>C N400N - GRIA3_000012 recurrent, found 110 times PubMed: Tarpey 2009 - - Germline - 110/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 110 Lucy Raymond
?/. - c.1220C>T r.(?) p.(Pro407Leu) Unknown - VUS g.122537297C>T g.123403446C>T - - GRIA3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1236A>C r.(?) p.(Gln412His) Unknown - VUS g.122537313A>C g.123403462A>C GRIA3(NM_000828.4):c.1236A>C (p.Q412H) - GRIA3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1237A>G r.(?) p.(Ile413Val) Unknown - likely benign g.122537314A>G - GRIA3(NM_000828.4):c.1237A>G (p.I413V) - GRIA3_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1293+48C>T r.(=) p.(=) Maternal (inferred) - VUS g.122537418C>T g.123403567C>T - - GRIA3_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1293+48C>T r.(=) p.(=) Maternal (inferred) - VUS g.122537418C>T g.123403567C>T - - GRIA3_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1326T>C r.(?) p.(His442=) Unknown - likely benign g.122538591T>C - GRIA3(NM_000828.4):c.1326T>C (p.H442=) - GRIA3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1349G>A r.(?) p.(Arg450Gln) Unknown - likely pathogenic g.122538614G>A g.123404763G>A GRIA3(NM_000828.4):c.1349G>A (p.R450Q) - GRIA3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1349G>A r.(?) p.(Arg450Gln) Maternal (confirmed) - pathogenic (recessive) g.122538614G>A g.123404763G>A R450Q - GRIA3_000050 - PubMed: Wu 2007 - - Germline yes - - - - DNA SEQ - - MRX;IDX 17989220-FamD PubMed: Wu 2007 2-generation family, 1 affected, unaffected heterozygous carrier mother M no - - - - - - 1 Johan den Dunnen
+?/. - c.1375G>C r.(?) p.(Ala459Pro) Unknown - likely pathogenic g.122538640G>C g.123404789G>C GRIA3(NM_000828.4):c.1375G>C (p.(Ala459Pro)) - GRIA3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1501-8T>A r.(=) p.(=) Unknown - likely benign g.122551245T>A g.123417394T>A GRIA3(NM_000828.4):c.1500-8T>A (p.(=)), GRIA3(NM_000828.4):c.1501-8T>A - GRIA3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1501-8T>A r.(=) p.(=) Unknown - likely benign g.122551245T>A g.123417394T>A GRIA3(NM_000828.4):c.1500-8T>A (p.(=)), GRIA3(NM_000828.4):c.1501-8T>A - GRIA3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1501-5T>C r.spl? p.? Unknown - benign g.122551248T>C g.123417397T>C GRIA3(NM_000828.4):c.1501-5T>C - GRIA3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1601T>A r.(?) p.(Ile534Lys) Unknown - VUS g.122551353T>A - - - GRIA3_000086 - - - - De novo - - - - - DNA SEQ-NG - WES ID, MRX94 202P - - F no Spain - - - - - 1 Alejandro Brea-Fernández
?/. - c.1609C>G r.(?) p.(Pro537Ala) Unknown ACMG VUS g.122551361C>G - - - GRIA3_000091 ACMG: PP2, PM2_SUP - VCV000807809.12 - Germline ? - - - - DNA SEQ-NG-I - - MRX94 207229 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.1672del r.(?) p.(Cys558Alafs*11) Both (homozygous) - likely pathogenic g.122551424del g.123417573del - - GRIA3_000033 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - (Germany) - - - - - 1 IMGAG
?/. - c.1781A>G r.(?) p.(Gln594Arg) Unknown - VUS g.122551533A>G g.123417682A>G - - GRIA3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1888G>A r.(?) p.(Gly630Arg) Unknown - likely pathogenic g.122561802G>A g.123427951G>A GRIA3(NM_000828.4):c.1888G>A (p.G630R) - GRIA3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1888G>A r.(?) p.(Gly630Arg) Unknown - VUS g.122561802G>A - GRIA3(NM_000828.4):c.1888G>A (p.G630R) - GRIA3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1888G>C r.(?) p.(Gly630Arg) Maternal (confirmed) - pathogenic (recessive) g.122561802G>C g.123427951G>C - - GRIA3_000064 - PubMed: Philips 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-Xchr MRX;IDX FamD174 PubMed: Philips 2014 4-generation family, 3 affected males, 2 unaffected heterozygous carrier females M no Finland - - - - - 3 Johan den Dunnen
+/. - c.1891C>A r.(?) p.(Arg631Ser) Maternal (confirmed) - pathogenic (recessive) g.122561805C>A g.123427954C>A R631S - GRIA3_000062 - PubMed: Wu 2007 - - Germline yes - - - - DNA SEQ - - MRX;IDX 17989220-FamC PubMed: Wu 2007 3-generation family, 4 affected males, 2 unaffected heterozygous carrier females M no - - - - - - 4 Johan den Dunnen
+?/. - c.1892G>A r.(?) p.(Arg631His) Unknown - likely pathogenic g.122561806G>A g.123427955G>A - - GRIA3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1957G>A r.(?) p.(Ala653Thr) Maternal (confirmed) - pathogenic (recessive) g.122561871G>A g.123428020G>A - - GRIA3_000060 - PubMed: Davies 2017 - - Germline yes - - - - DNA SEQ-NG - WES ? 29016847-Fam PubMed: Davies 2017 2-generation family, 2 affected brothers, unaffected heterozygous carriermother M no United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
-?/. - c.2076+20T>C r.(=) p.(=) Unknown - likely benign g.122562010T>C g.123428159T>C GRIA3(NM_000828.4):c.2076+20T>C - GRIA3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2076+158C>T r.(=) p.(=) Maternal (inferred) - VUS g.122562148C>T g.123428297C>T - - GRIA3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2076+158C>T r.(=) p.(=) Maternal (inferred) - VUS g.122562148C>T g.123428297C>T - - GRIA3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.2077-69del r.(=) p.(=) Unknown - benign g.122598647del g.123464796del GRIA3(NM_000828.4):c.2077-69delA - GRIA3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.2117T>C r.(?) p.(Met706Thr) Parent #1 - VUS g.122598756T>C g.123464905T>C M706T - GRIA3_000058 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.2117T>C r.(?) p.(Met706Thr) Maternal (confirmed) - pathogenic (recessive) g.122598756T>C g.123464905T>C M706T - GRIA3_000058 - PubMed: Wu 2007 - - Germline yes - - - - DNA SEQ - - MRX;IDX 17989220-FamB PubMed: Wu 2007 4-generation family, 2 affected males, 7 unaffected heterozygous carrier females M no - - - - - - 2 Johan den Dunnen
+/. - c.2161G>A r.(?) p.(Gly721Arg) Maternal (confirmed) - pathogenic (recessive) g.122598800G>A g.123464949G>A GRIA3 G721R - GRIA3_000059 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamP176 PubMed: Hu 2016 family, 4 affected, 3 unaffected heterozygous carrier females M - - - - - - - 4 Johan den Dunnen
+/. - c.2497G>A r.(?) p.(Gly833Arg) Maternal (confirmed) - pathogenic (recessive) g.122616707G>A g.123482856G>A G833R - GRIA3_000061 - PubMed: Wu 2007 - - Germline yes - - - - DNA SEQ - - MRX;IDX 17989220-FamA PubMed: Wu 2007 3-generation family, 3 affected males, 3 unaffected heterozygous carrier females M no - - - - - - 3 Johan den Dunnen
+?/. - c.2497G>A r.(?) p.(Gly833Arg) Unknown - likely pathogenic g.122616707G>A g.123482856G>A - - GRIA3_000061 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs137852350 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411367 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.2531T>C r.(?) p.(Ile844Thr) Unknown - likely benign g.122616741T>C g.123482890T>C - - GRIA3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2638T>A r.(?) p.(Tyr880Asn) Maternal (confirmed) - VUS g.122616848T>A - - - GRIA3_000087 - - - - Germline - - - - - DNA SEQ-NG - WES ID, MRX1, MRX94 031P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
?/. - c.*2+80dup r.(=) p.(=) Unknown - VUS g.122616977dup g.123483126dup - - GRIA3_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*406_*407dup r.(=) p.(=) Maternal (inferred) - VUS g.122622967_122622968dup g.123489116_123489117dup - - GRIA3_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
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