Full data view for gene GRIA2

Information The variants shown are described using the NM_001083619.1 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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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.-384_-382del r.(?) p.(=) Unknown - VUS g.158141811_158141813del - GRIA2(NM_001083620.3):c.-120_-118del - GRIA2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-360_-359dup r.(?) p.(=) Unknown - VUS g.158141835_158141836dup - GRIA2(NM_001083620.3):c.-96_-95dup - GRIA2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_12i_ c.-459_(2043+8394_?){0} r.? p.? Unknown - pathogenic (dominant) g.156351739_158271008del - - 4q32.1del (156,351,739-158,271,008)x1dn GRIA2_000029 - PubMed: Salpietro 2019 - - De novo - - - - - DNA arrayCGH - - ID Pat28 PubMed: Salpietro 2019 - M - - white - - - - 1 Johan den Dunnen
+/. _1_15_ c.-459_*2644{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_156351739)_(158983901_?)del - - 4q32.1del (156,351,739-158,983,901)x1dn GRIA2_000028 - PubMed: Salpietro 2019 - - De novo - - - - - DNA arrayCGH - - ID Pat26 PubMed: Salpietro 2019 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_15_ c.-459_*2644{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_156351739)_(158983901_?)del - - 4q32.1del (156,351,739-158,983,901)x1dn GRIA2_000028 - PubMed: Salpietro 2019 - - De novo - - - - - DNA arrayCGH - - ID Pat27 PubMed: Salpietro 2019 - F - Italy - - - - - 1 Johan den Dunnen
?/. - c.17A>G r.(?) p.(His6Arg) Unknown - VUS g.158142211A>G - GRIA2(NM_001083619.3):c.17A>G (p.H6R) - GRIA2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.88+2T>C r.spl p.? Unknown - pathogenic (dominant) g.158142284T>C g.157221132T>C - - GRIA2_000021 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat8 PubMed: Salpietro 2019 - M - United States white;Latino-American - - - - 1 Stephanie Efthymiou
+/. - c.140G>A r.(?) p.(Gly47Glu) Unknown - pathogenic (dominant) g.158142870G>A g.157221718G>A - - GRIA2_000015 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat15 PubMed: Salpietro 2019 - F - China Han - - - - 1 Stephanie Efthymiou
?/. - c.229+25401C>T r.(=) p.(=) Unknown - VUS g.158168360C>T - GRIA2(NM_001083619.3):c.229+25401C>T - GRIA2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245C>T r.(?) p.(Ser82Leu) Unknown - VUS g.158224719C>T - GRIA2(NM_001083619.3):c.245C>T (p.S82L) - GRIA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.257_258del r.(?) p.(Tyr86Cysfs*7) Unknown - likely pathogenic g.158224731_158224732del - GRIA2(NM_001083619.3):c.257_258del (p.(Tyr86Cysfs*7)) - GRIA2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.373G>A r.(?) p.(Val125Ile) Unknown - VUS g.158224847G>A - GRIA2(NM_001083619.3):c.373G>A (p.V125I) - GRIA2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.391G>A r.(?) p.(Asp131Asn) Unknown - likely benign g.158224865G>A - GRIA2(NM_001083619.3):c.391G>A (p.D131N) - GRIA2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.857del r.(?) p.(Pro286Leufs*14) Unknown - pathogenic (dominant) g.158242726del g.157321574del - - GRIA2_000012 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat12 PubMed: Salpietro 2019 - M - - - - - - - 1 Stephanie Efthymiou
?/. - c.905A>G r.(?) p.(Asp302Gly) Unknown - VUS g.158253993A>G g.157332841A>G GRIA2(NM_000826.3):c.905A>G (p.(Asp302Gly)) - GRIA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.905A>G r.(?) p.(Asp302Gly) Unknown - pathogenic (dominant) g.158253993A>G g.157332841A>G - - GRIA2_000001 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat5 PubMed: Salpietro 2019 - M - Turkey - - - - - 1 Stephanie Efthymiou
?/. - c.916G>A r.(?) p.(Val306Met) Unknown - VUS g.158254004G>A - GRIA2(NM_000826.3):c.916G>A (p.(Val306Met)) - GRIA2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.967C>T r.(?) p.(Arg323*) Unknown - pathogenic (dominant) g.158254055C>T g.157332903C>T - - GRIA2_000020 - PubMed: Salpietro 2019 - rs143505003 De novo - - - - - DNA SEQ-NG-I - - ID Pat19 PubMed: Salpietro 2019 - M - China Han - - - - 1 Stephanie Efthymiou
?/. - c.1042C>T r.(?) p.(Leu348Phe) Unknown - VUS g.158254130C>T - GRIA2(NM_001083619.1):c.1042C>T (p.(Leu348Phe)) - GRIA2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1115C>A r.(?) p.(Thr372Lys) Unknown - likely benign g.158254465C>A - GRIA2(NM_001083619.1):c.1115C>A (p.(Thr372Lys)) - GRIA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1463T>C r.(?) p.(Leu488Pro) Unknown - likely pathogenic g.158257019T>C - - - GRIA2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1582C>A r.(?) p.(Pro528Thr) Unknown - pathogenic (dominant) g.158257637C>A g.157336485C>A - - GRIA2_000009 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat9 PubMed: Salpietro 2019 - M - - - - - - - 1 Stephanie Efthymiou
+/. - c.1582_1590del r.(?) p.(Pro528_Lys530del) Unknown - pathogenic (dominant) g.158257637_158257645del g.157336485_157336493del - - GRIA2_000004 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat2 PubMed: Salpietro 2019 - F - United Kingdom (Great Britain) - - - - - 1 Stephanie Efthymiou
+/. - c.1785del r.(?) p.(Phe595Leufs*37) Unknown - pathogenic (dominant) g.158257840del g.157336688del - - GRIA2_000010 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat10 PubMed: Salpietro 2019 - F - China - - - - - 1 Stephanie Efthymiou
+/. - c.1819C>G r.(?) p.(Gln607Glu) Unknown - pathogenic (dominant) g.158257874C>G g.157336722C>G Arg607Gly - GRIA2_000022 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat7 PubMed: Salpietro 2019 - F - United States Latino-American - - - - 1 Stephanie Efthymiou
+/. - c.1825G>A r.(?) p.(Gly609Arg) Unknown - pathogenic (dominant) g.158257880G>A g.157336728G>A - - GRIA2_000006 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat4 PubMed: Salpietro 2019 - F - United Kingdom (Great Britain) - - - - - 1 Stephanie Efthymiou
+/. - c.1831G>A r.(?) p.(Asp611Asn) Unknown - pathogenic (dominant) g.158257886G>A g.157336734G>A - - GRIA2_000005 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat3 PubMed: Salpietro 2019 - M - - white - - - - 1 Stephanie Efthymiou
+/. - c.1844+1G>A r.spl p.? Unknown - pathogenic (dominant) g.158257900G>A g.157336748G>A - - GRIA2_000011 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat11 PubMed: Salpietro 2019 - M - China Han - - - - 1 Stephanie Efthymiou
+?/. - c.1901T>C r.(?) p.(Ile634Thr) Unknown - likely pathogenic g.158262472T>C - GRIA2(NM_001083619.3):c.1901T>C (p.I634T) - GRIA2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1906T>G r.(?) p.(Ser636Ala) Unknown - likely pathogenic g.158262477T>G g.157341325T>G GRIA2(NM_000826.6):c.1906T>G (p.S636A) - GRIA2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1915G>T r.(?) p.(Ala639Ser) Unknown - pathogenic (dominant) g.158262486G>T g.157341334G>T - - GRIA2_000017 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat17 PubMed: Salpietro 2019 - M - United States Jewish-Ashkenazi 00y03m - - - 1 Stephanie Efthymiou
+/. - c.1915G>T r.(?) p.(Ala639Ser) Unknown - pathogenic (dominant) g.158262486G>T g.157341334G>T - - GRIA2_000017 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat20 PubMed: Salpietro 2019 - F - Brazil - 00y05m - - - 1 Stephanie Efthymiou
+/. - c.1932C>A r.(?) p.(Phe644Leu) Unknown - pathogenic (dominant) g.158262503C>A g.157341351C>A - - GRIA2_000014 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat14 PubMed: Salpietro 2019 - F - Korea - - - - - 1 Stephanie Efthymiou
+/. - c.1937C>A r.(?) p.(Thr646Asn) Unknown - pathogenic (dominant) g.158262508C>A g.157341356C>A - - GRIA2_000013 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat13 PubMed: Salpietro 2019 - F - - - - - - - 1 Stephanie Efthymiou
+/. - c.1939G>C r.(?) p.(Val647Leu) Unknown - pathogenic (dominant) g.158262510G>C g.157341358G>C - - GRIA2_000016 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat16 PubMed: Salpietro 2019 - M - - - - - - - 1 Stephanie Efthymiou
+/. - c.1939G>C r.(?) p.(Val647Leu) Unknown - pathogenic (dominant) g.158262510G>C g.157341358G>C - - GRIA2_000016 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat18 PubMed: Salpietro 2019 - M - - white - - - - 1 Stephanie Efthymiou
+/. - c.1939G>C r.(?) p.(Val647Leu) Unknown - pathogenic (dominant) g.158262510G>C g.157341358G>C - - GRIA2_000016 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat21 PubMed: Salpietro 2019 - M - Netherlands - - - - - 1 Stephanie Efthymiou
+/. - c.1939G>C r.(?) p.(Val647Leu) Unknown - pathogenic (dominant) g.158262510G>C g.157341358G>C - - GRIA2_000016 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat24 PubMed: Salpietro 2019 - M - - - - - - - 1 Stephanie Efthymiou
?/. - c.2035T>C r.(?) p.(Phe679Leu) Unknown - VUS g.158262606T>C - GRIA2(NM_001083619.1):c.2035T>C (p.(Phe679Leu)) - GRIA2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2120C>T r.(?) p.(Thr707Met) Unknown - VUS g.158281124C>T - GRIA2(NM_001083619.1):c.2120C>T (p.T707M) - GRIA2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2328G>T r.(?) p.(Glu776Asp) Unknown - pathogenic (dominant) g.158282726G>T g.157361574G>T - - GRIA2_000018 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat23 PubMed: Salpietro 2019 - F - - - - - - - 1 Stephanie Efthymiou
+/. - c.2363G>T r.(?) p.(Trp788Leu) Unknown - pathogenic (dominant) g.158282233G>T g.157361081G>T - - GRIA2_000003 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat1 PubMed: Salpietro 2019 - M - Spain - - - - - 1 Stephanie Efthymiou
+/. - c.2375G>T r.(?) p.(Gly792Val) Unknown - pathogenic (dominant) g.158282773G>T g.157361621G>T - - GRIA2_000007 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat6 PubMed: Salpietro 2019 - F - - white - - - - 1 Stephanie Efthymiou
+?/. - c.2406+426T>A r.(=) p.(=) Unknown - likely pathogenic g.158282702T>A - - - GRIA2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2406+457G>A r.(=) p.(=) Unknown - VUS g.158282733G>A g.157361581G>A GRIA2(NM_000826.3):c.2335G>A (p.V779I) - GRIA2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2407-9A>G r.(=) p.(=) Unknown - likely benign g.158283942A>G g.157362790A>G GRIA2(NM_000826.3):c.2407-9A>G - GRIA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2419G>A r.(?) p.(Ala807Thr) Unknown - likely pathogenic g.158283963G>A - GRIA2(NM_001083619.1):c.2419G>A (p.(Ala807Thr)) - GRIA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2420C>T r.(?) p.(Ala807Val) Unknown - pathogenic (dominant) g.158283964C>T g.157362812C>T - - GRIA2_000027 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat25 PubMed: Salpietro 2019 - F - Canada - - - - - 1 Johan den Dunnen
+/. - c.2435A>G r.(?) p.(Asn812Ser) Unknown - pathogenic (dominant) g.158283979A>G g.157362827A>G - - GRIA2_000019 - PubMed: Salpietro 2019 - - De novo - - - - - DNA SEQ-NG-I - - ID Pat22 PubMed: Salpietro 2019 - M - - - - - - - 1 Stephanie Efthymiou
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