Unique variants in the GRIA3 gene

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

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 - c.-3_-1= r.(=) p.(=) - benign g.122318386_122318387insG g.123184533dup GRIA3(NM_000828.4):c.-2_-1insG - GRIA3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., ?/. 3 - c.-2dup r.(?) p.(=) - benign, VUS g.122318386dup, g.122318386_122318387insGG g.123184533dup, g.123184534dup -2_-1insG, GRIA3(NM_000828.4):c.-2dupA - GRIA3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Utrecht
-/. 1 - c.-2G>C r.(?) p.(=) - benign g.122318387dup g.123184535dup GRIA3(NM_000828.4):c.-1dupC - GRIA3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-2_-1delinsCG r.(?) p.(=) - benign g.122318387_122318388insG g.123184535_123184536insG GRIA3(NM_000828.4):c.-1_1insG - GRIA3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.0 r.0 p.0 - pathogenic (recessive) g.(122000000_122100000)_(122460000_122560000)del - - - GRIA3_000063 0.4 Mb deletion Xq25 (122.00–122.40 Mb) PubMed: Wu 2007 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.2T>C r.(?) p.(Met1?) - likely benign g.122318389T>C - GRIA3(NM_000828.4):c.2T>C (p.M1?) - GRIA3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.106A>G r.(?) p.(Ile36Val) - 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 - - - - - VKGL-NL_VUmc
-?/., ?/. 2 - c.159T>C r.(?) p.(Phe53=) - likely benign, VUS 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/., ?/. 2 - c.179C>T r.(?) p.(Thr60Ile) - likely benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
-/., -?/., ?/. 7 - c.268+16761dup r.(=) p.(=) - benign, likely benign, VUS g.122336603dup g.123202751dup 1 more item - GRIA3_000022, GRIA3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.268+16762_268+16763insG r.(=) p.(=) - 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 - - - - - VKGL-NL_Groningen
?/. 2 - c.268+18363T>A r.(=) p.(=) - VUS g.122338205T>A g.123204353C>A - - GRIA3_000024 - - - - Germline - - - - - Yu Sun
?/. 1 - c.268+18405C>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.279G>T r.(?) p.(Gln93His) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.397G>A r.(?) p.(Ala133Thr) - likely benign g.122387282G>A - GRIA3(NM_000828.4):c.397G>A (p.A133T) - GRIA3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.509-244A>C r.(=) p.(=) - VUS g.122459633A>C g.123325782A>C - - GRIA3_000027 - - - - Germline - - - - - Yu Sun
?/. 1 - c.573G>T r.(?) p.(Arg191Ser) ACMG VUS g.122459941G>T - - - GRIA3_000088 - Leonardi 2022, submitted - - Germline - - - - - Emanuela Leonardi
-?/. 1 - c.611G>A r.(?) p.(Arg204His) - likely benign g.122459979G>A - GRIA3(NM_000828.4):c.611G>A (p.R204H) - GRIA3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.616A>G r.(?) p.(Ile206Val) - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - c.626T>C r.(?) p.(Met209Thr) - 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 - - - - - VKGL-NL_Utrecht
?/. 1 - c.647G>A r.(?) p.(Arg216Gln) - 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 - - - - - VKGL-NL_Rotterdam
+/. 2 - c.670G>T r.(?) p.(Glu224*), p.(Glu224Ter) - pathogenic, pathogenic (recessive) g.122460038G>T g.123326187G>T GRIA3 E224X - GRIA3_000055 VKGL data sharing initiative Nederland PubMed: Hu 2016 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-?/. 1 - c.696+5G>A r.spl? p.? - 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 - - - - - VKGL-NL_Groningen
?/. 2 - c.696+156del r.(=) p.(=) - VUS g.122460220del g.123326369del - - GRIA3_000030 - - - - Germline - - - - - Yu Sun
?/. 1 - c.696+166_696+173del r.(=) p.(=) - VUS g.122460230_122460237del g.123326379_123326386del - - GRIA3_000006 - - - - Germline - - - - - Yu Sun
?/. 2 - c.696+169_696+173del r.(=) p.(=) - VUS g.122460233_122460237del g.123326382_123326386del - - GRIA3_000007 - - - - Germline - - - - - Yu Sun
-/., ?/. 3 - c.751-16T>C r.(=) p.(=) - benign, VUS g.122528803T>C g.123394952T>C GRIA3(NM_000828.4):c.751-16T>C - GRIA3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Groningen
-?/. 1 - c.913-15A>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Utrecht
+/. 1 - c.982C>T r.(?) p.(Arg328Ter) - pathogenic g.122532556C>T g.123398705C>T - - GRIA3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1081-38G>A r.(=) p.(=) - benign g.122536807G>A g.123402956G>A GRIA3(NM_000828.4):c.1081-38G>A - GRIA3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1125T>C r.(?) p.(Tyr375=) - likely benign g.122536889T>C - GRIA3(NM_000828.4):c.1125T>C (p.Y375=) - GRIA3_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1166A>C r.(?) p.(Lys389Thr) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 2 - c.1181G>A r.(?) p.(Arg394Gln) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1185+9C>A r.(=) p.(=) - likely benign g.122536958C>A - GRIA3(NM_000828.4):c.1185+9C>A - GRIA3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1190G>A r.(?) p.(Gly397Asp) - likely pathogenic g.122537267G>A - - - GRIA3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/., ?/. 4 - c.1200T>C r.(=), r.(?) p.(=), p.(Asn400=) - benign, likely benign, VUS g.122537277T>C g.123403426T>C GRIA3(NM_000828.4):c.1200T>C (p.N400=), N400N - GRIA3_000012 recurrent, found 110 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 110/208 cases - - - Yu Sun, Lucy Raymond, VKGL-NL_Groningen
?/. 1 - c.1220C>T r.(?) p.(Pro407Leu) - VUS g.122537297C>T g.123403446C>T - - GRIA3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1236A>C r.(?) p.(Gln412His) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1237A>G r.(?) p.(Ile413Val) - likely benign g.122537314A>G - GRIA3(NM_000828.4):c.1237A>G (p.I413V) - GRIA3_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1293+48C>T r.(=) p.(=) - VUS g.122537418C>T g.123403567C>T - - GRIA3_000015 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1326T>C r.(?) p.(His442=) - likely benign g.122538591T>C - GRIA3(NM_000828.4):c.1326T>C (p.H442=) - GRIA3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 - c.1349G>A r.(?) p.(Arg450Gln) - likely pathogenic, pathogenic (recessive) g.122538614G>A g.123404763G>A GRIA3(NM_000828.4):c.1349G>A (p.R450Q), R450Q - GRIA3_000050 VKGL data sharing initiative Nederland PubMed: Wu 2007 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Utrecht
+?/. 1 - c.1375G>C r.(?) p.(Ala459Pro) - 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 - - - - - VKGL-NL_Leiden
-?/. 2 - c.1501-8T>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-/. 1 - c.1501-5T>C r.spl? p.? - benign g.122551248T>C g.123417397T>C GRIA3(NM_000828.4):c.1501-5T>C - GRIA3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1601T>A r.(?) p.(Ile534Lys) - VUS g.122551353T>A - - - GRIA3_000086 - - - - De novo - - - - - Alejandro Brea-Fernández
?/. 1 - c.1609C>G r.(?) p.(Pro537Ala) ACMG VUS g.122551361C>G - - - GRIA3_000091 ACMG: PP2, PM2_SUP - VCV000807809.12 - Germline ? - - - - Andreas Laner
+?/. 1 - c.1672del r.(?) p.(Cys558Alafs*11) - likely pathogenic g.122551424del g.123417573del - - GRIA3_000033 - - - - Unknown - - - - - IMGAG
?/. 1 - c.1781A>G r.(?) p.(Gln594Arg) - VUS g.122551533A>G g.123417682A>G - - GRIA3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., ?/. 2 - c.1888G>A r.(?) p.(Gly630Arg) - likely pathogenic, VUS g.122561802G>A g.123427951G>A GRIA3(NM_000828.4):c.1888G>A (p.G630R) - GRIA3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 12 c.1888G>C r.(?) p.(Gly630Arg) - pathogenic (recessive) g.122561802G>C g.123427951G>C - - GRIA3_000064 - PubMed: Philips 2014 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.1891C>A r.(?) p.(Arg631Ser) - pathogenic (recessive) g.122561805C>A g.123427954C>A R631S - GRIA3_000062 - PubMed: Wu 2007 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.1892G>A r.(?) p.(Arg631His) - likely pathogenic g.122561806G>A g.123427955G>A - - GRIA3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1957G>A r.(?) p.(Ala653Thr) - pathogenic (recessive) g.122561871G>A g.123428020G>A - - GRIA3_000060 - PubMed: Davies 2017 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.2076+20T>C r.(=) p.(=) - 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 - - - - - VKGL-NL_Groningen
?/. 2 - c.2076+158C>T r.(=) p.(=) - VUS g.122562148C>T g.123428297C>T - - GRIA3_000001 - - - - Germline - - - - - Yu Sun
-/. 1 - c.2077-69del r.(=) p.(=) - benign g.122598647del g.123464796del GRIA3(NM_000828.4):c.2077-69delA - GRIA3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., ?/. 2 14 c.2117T>C r.(?) p.(Met706Thr) - pathogenic (recessive), VUS g.122598756T>C g.123464905T>C M706T - GRIA3_000058 found once, nonrecurrent change PubMed: Tarpey 2009, PubMed: Wu 2007 - - Germline yes 1/208 cases - - - Johan den Dunnen, Lucy Raymond
+/. 1 - c.2161G>A r.(?) p.(Gly721Arg) - pathogenic (recessive) g.122598800G>A g.123464949G>A GRIA3 G721R - GRIA3_000059 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
+/., +?/. 2 - c.2497G>A r.(?) p.(Gly833Arg) - likely pathogenic, pathogenic (recessive) g.122616707G>A g.123482856G>A G833R - GRIA3_000061 - PubMed: Grozeva 2015, Journal: Grozeva 2015, PubMed: Wu 2007 - rs137852350 Germline, Germline/De novo (untested) yes - - - - Johan den Dunnen
-?/. 1 - c.2531T>C r.(?) p.(Ile844Thr) - likely benign g.122616741T>C g.123482890T>C - - GRIA3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2638T>A r.(?) p.(Tyr880Asn) - VUS g.122616848T>A - - - GRIA3_000087 - - - - Germline - - - - - Alejandro Brea-Fernández
?/. 1 - c.*2+80dup r.(=) p.(=) - VUS g.122616977dup g.123483126dup - - GRIA3_000004 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*406_*407dup r.(=) p.(=) - VUS g.122622967_122622968dup g.123489116_123489117dup - - GRIA3_000005 - - - - Germline - - - - - Yu Sun
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