Full data view for gene GAD1

Information The variants shown are described using the NM_000817.2 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.-147G>A r.(?) p.(=) Unknown - benign g.171673475G>A g.170816965G>A - - GAD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.35C>G r.(?) p.(Ser12Cys) Both (homozygous) - VUS g.171675136C>G g.170818626C>G - - GAD1_000019 reclassified in Morgan 2021 PubMed: Morgan 2021, PubMed: Lynex 2004 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV1 PubMed: Morgan 2021, PubMed: Lynex 2004 5-generation family, 7 affected (3F, 4M), unaffected heterozygous parents/relatives F yes United Kingdom (Great Britain) Pakistan - - - - 7 Johan den Dunnen
?/. - c.35C>G r.(?) p.(Ser12Cys) Both (homozygous) - VUS g.171675136C>G g.170818626C>G - - GAD1_000019 reclassified in Morgan 2021 PubMed: Morgan 2021, PubMed: Lynex 2004 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV2 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
?/. - c.35C>G r.(?) p.(Ser12Cys) Both (homozygous) - VUS g.171675136C>G g.170818626C>G - - GAD1_000019 reclassified in Morgan 2021 PubMed: Morgan 2021, PubMed: Lynex 2004 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV5 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
?/. - c.35C>G r.(?) p.(Ser12Cys) Both (homozygous) - VUS g.171675136C>G g.170818626C>G - - GAD1_000019 reclassified in Morgan 2021 PubMed: Morgan 2021, PubMed: Lynex 2004 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV7 PubMed: Morgan 2021, PubMed: Lynex 2004 sister F yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
?/. - c.35C>G r.(?) p.(Ser12Cys) Both (homozygous) - VUS g.171675136C>G g.170818626C>G - - GAD1_000019 reclassified in Morgan 2021 PubMed: Morgan 2021, PubMed: Lynex 2004 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV8 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.87C>G r.(?) p.(Tyr29Ter) Both (homozygous) - pathogenic (recessive) g.171678601C>G g.170822091C>G - - GAD1_000020 ACMG PVS1, PM2, PP4 PubMed: Neyray 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamEPatIII3 PubMed: Neyray 2020 3-generation family, 2 affected sisters, unaffected heterozygous parents (1st cousins)/relatives F yes Egypt - - - - - 1 Johan den Dunnen
-/. - c.111T>C r.(?) p.(His37=) Unknown - benign g.171678625T>C g.170822115T>C GAD1(NM_000817.3):c.111T>C (p.H37=) - GAD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.111T>C r.(?) p.(His37=) Unknown - benign g.171678625T>C - GAD1(NM_000817.3):c.111T>C (p.H37=) - GAD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399T>C r.(?) p.(Asp133=) Unknown - likely benign g.171687554T>C g.170831044T>C GAD1(NM_000817.2):c.399T>C (p.D133=) - GAD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.568del r.(?) p.(Gln190SerfsTer11) Both (homozygous) - pathogenic (recessive) g.171693323del g.170836813del - - GAD1_000021 ACMG PVS1, PM2, PP3 PubMed: Neyray 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamFPatII2 PubMed: Neyray 2020 2-generation family, 1 affected, unaffected heterozygous parents (1st cousins)/relatives F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.639-1455T>A r.(=) p.(=) Unknown - pathogenic g.171699100T>A - GAD1(NM_013445.3):c.660T>A (p.C220*) - GAD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.670del r.(?) p.(Leu224SerfsTer5) Maternal (confirmed) - pathogenic (recessive) g.171700586del g.170844076del 670delC - GAD1_000022 ACMG PVS1, PM2, PP3 PubMed: Neyray 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamCPatII1 PubMed: Neyray 2020 2-generation family, 1 affected, unaffected heterozygous parents M no United States African American - - - - 1 Johan den Dunnen
+/. - c.695_697delAGA r.spl? p.(Lys232del) Both (homozygous) - pathogenic (dominant) g.171700611_171700613del g.170844101_170844103del 695_697delAGA - GAD1_000023 - PubMed: Chatron 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DEE FamBPatIV4 PubMed: Chatron 2020 4-generation family, affected brother/sister, unaffected heterozygous parents/relatives F yes Egypt - 2y - - - 2 Johan den Dunnen
+/. - c.695_697delAGA r.spl? p.(Lys232del) Both (homozygous) - pathogenic (dominant) g.171700611_171700613del g.170844101_170844103del 695_697delAGA - GAD1_000023 - PubMed: Chatron 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DEE FamBPatIV1 PubMed: Chatron 2020 sister M yes Egypt - 4y - - - 1 Johan den Dunnen
+/. - c.812_816delTTAAG r.(?) p.(Val271AspfsTer9) Both (homozygous) - pathogenic (dominant) g.171702076_171702080del g.170845566_170845570del 812_816delTTAAG - GAD1_000024 - PubMed: Chatron 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DEE FamCPatIII1 PubMed: Chatron 2020 3-generation family, affected sister/brother, unaffected heterozygous parents/relatives F yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.812_816delTTAAG r.(?) p.(Val271AspfsTer9) Both (homozygous) - pathogenic (dominant) g.171702076_171702080del g.170845566_170845570del 812_816delTTAAG - GAD1_000024 - PubMed: Chatron 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DEE FamCPatIII2 PubMed: Chatron 2020 brother M yes Turkey - 2y - - - 1 Johan den Dunnen
?/. - c.824G>A r.(?) p.(Gly275Asp) Unknown - VUS g.171702088G>A g.170845578G>A GAD1(NM_000817.2):c.824G>A (p.(Gly275Asp)) - GAD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850C>T r.(?) p.(Leu284Phe) Unknown - VUS g.171702114C>T - GAD1(NM_000817.3):c.850C>T (p.(Leu284Phe)) - GAD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.971T>G r.(?) p.(Phe324Cys) Both (homozygous) - VUS g.171702542T>G g.170846032T>G - - GAD1_000025 ACMG PM2, PP3 PubMed: Neyray 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamBPatIII4 PubMed: Neyray 2020 3-generation family, 1 affected, unaffected heterozygous parents/relatives M yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.1002+4T>G r.spl? p.? Unknown - likely benign g.171702577T>G - GAD1(NM_000817.3):c.1002+4T>G - GAD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002+12G>A r.(=) p.(=) Unknown - likely benign g.171702585G>A g.170846075G>A GAD1(NM_000817.2):c.1002+12G>A - GAD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1040C>T r.(?) p.(Thr347Met) Unknown - VUS g.171704223C>T g.170847713C>T GAD1(NM_000817.2):c.1040C>T (p.(Thr347Met)) - GAD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1040C>T r.(?) p.(Thr347Met) Both (homozygous) - VUS g.171704223C>T g.170847713C>T - - GAD1_000005 ACMG PM2, PP3 PubMed: Neyray 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamDPatII4 PubMed: Neyray 2020 2-generation family, 1 affected, unaffected heterozygous parents (2nd cousins)/relatives M yes Sudan - - - - - 1 Johan den Dunnen
+/. - c.1119+1G>A r.(?) p.(335Gly_Asp373del) Both (homozygous) - pathogenic g.171704303G>A g.170847793G>A - - GAD1_000014 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 Gunnar Schmidt
+/. 11i c.1119+1G>A r.1003_1192del p.Gly335_Asp373del Both (homozygous) - pathogenic (recessive) g.171704303G>A g.170847793G>A - - GAD1_000014 - PubMed: Von Hardenberg 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - trio WES DEE patient PubMed: Von Hardenberg 2020 2-generation family, 1 affected, unaffected heterozygous parents F no Germany - - - - - 1 Johan den Dunnen
-?/. - c.1184+5C>T r.spl? p.? Unknown - likely benign g.171705865C>T g.170849355C>T GAD1(NM_000817.2):c.1184+5C>T - GAD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1252G>T r.(?) p.(Val418Phe) Unknown - VUS g.171709291G>T - GAD1(NM_000817.3):c.1252G>T (p.V418F) - GAD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1263+3C>G r.spl? p.? Unknown - likely benign g.171709305C>G - GAD1(NM_000817.3):c.1263+3C>G - GAD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14i c.1414-1G>C r.[1414_1521del,1413_1414ins[1414-77_1414-2;c],1414_1420del] p.[Gly472_Glu507del,Gly472fs] Both (homozygous) - pathogenic (dominant) g.171713527G>C g.170857017G>C - - GAD1_000026 - PubMed: Chatron 2020 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES DEE FamAPatIII1 PubMed: Chatron 2020 3-generation family, affected brother/sister, unaffected heterozygous parents/relatives M yes Algeria - - - - - 2 Johan den Dunnen
+/. 14i c.1414-1G>C r.[1414_1521del,1413_1414ins[1414-77_1414-2;c],1414_1420del] p.[Gly472_Glu507del,Gly472fs] Both (homozygous) - pathogenic (dominant) g.171713527G>C g.170857017G>C - - GAD1_000026 - PubMed: Chatron 2020 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES DEE FamAPatIII2 PubMed: Chatron 2020 sister F yes Algeria - - - - - 1 Johan den Dunnen
+/. - c.1525G>A r.(?) p.(Glu509Lys) Both (homozygous) - pathogenic (dominant) g.171715317G>A g.170858807G>A - - GAD1_000027 - PubMed: Chatron 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DEE FamFPatIV1 PubMed: Chatron 2020 3-generation family, 1 affected brother, unaffected heterozygous parents/relatives F yes Brazil - - - - - 1 Johan den Dunnen
?/. - c.1546dup r.(?) p.(Trp516LeufsTer64) Unknown - VUS g.171715338dup g.170858828dup GAD1(NM_000817.2):c.1546dupT (p.W516Lfs*64) - GAD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1591C>T r.(?) p.(Arg531Ter) Both (homozygous) - pathogenic (dominant) g.171715383C>T g.170858873C>T - - GAD1_000028 - PubMed: Chatron 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DEE FamDPatV2 PubMed: Chatron 2020 4-generation family, affected brother/sister, unaffected heterozygous parents/relatives M yes Iran - - - - - 2 Johan den Dunnen
+/. - c.1591C>T r.(?) p.(Arg531Ter) Both (homozygous) - pathogenic (dominant) g.171715383C>T g.170858873C>T - - GAD1_000028 - PubMed: Chatron 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DEE FamDPatV3 PubMed: Chatron 2020 sister F yes Iran - - - - - 1 Johan den Dunnen
+/. - c.1591C>T r.(?) p.(Arg531Ter) Both (homozygous) - pathogenic (dominant) g.171715383C>T g.170858873C>T - - GAD1_000028 - PubMed: Chatron 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DEE FamEPatIII2 PubMed: Chatron 2020 3-generation family, 2 affected brothesr, unaffected heterozygous parents/relatives M yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.1591C>T r.(?) p.(Arg531Ter) Both (homozygous) - pathogenic (dominant) g.171715383C>T g.170858873C>T - - GAD1_000028 - PubMed: Chatron 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DEE FamEPatIII1 PubMed: Chatron 2020 brother M yes Turkey - 9d - - - 1 Johan den Dunnen
+/. - c.1591C>T r.(?) p.(Arg531Ter) Paternal (inferred) - pathogenic (recessive) g.171715383C>T g.170858873C>T - - GAD1_000028 ACMG PVS1, PM2, PP3 PubMed: Neyray 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamCPatII1 PubMed: Neyray 2020 2-generation family, 1 affected, unaffected heterozygous parents M no United States African American - - - - 1 Johan den Dunnen
-?/. - c.1611+5G>A r.spl? p.? Unknown - likely benign g.171715408G>A - GAD1(NM_000817.3):c.1611+5G>A - GAD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1612-3A>G r.spl? p.? Unknown - likely benign g.171716216A>G g.170859706A>G GAD1(NM_000817.2):c.1612-3A>G - GAD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1691A>G r.(?) p.(Asn564Ser) Both (homozygous) - VUS g.171716298A>G g.170859788A>G - - GAD1_000029 ACMG PM2, PP3 PubMed: Neyray 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamAPAtIII2 PubMed: Neyray 2020 3-generation family, 1 affected, unaffected heterozygous parents (double first cousins)/relatives F - Iran Persia - - - - 1 Johan den Dunnen
?/. - c.1712C>G r.(?) p.(Ser571Cys) Unknown - VUS g.171716319C>G g.170859809C>G GAD1(NM_000817.2):c.1712C>G (p.(Ser571Cys)) - GAD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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