Full data view for gene GNAO1

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

766 entries on 8 pages. Showing entries 1 - 100.
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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.3G>T r.(?) p.(Met1?) Unknown - likely pathogenic g.56226150G>T g.56192238G>T Met1Ile - GNAO1_000053 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8G>A r.(?) p.(Cys3Tyr) Unknown - VUS g.56226155G>A g.56192243G>A GNAO1(NM_020988.2):c.8G>A (p.(Cys3Tyr)) - GNAO1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8G>A r.(?) p.(Cys3Tyr) Unknown - VUS g.56226155G>A g.56192243G>A - - GNAO1_000020 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27G>A r.(?) p.(Glu9=) Unknown - likely benign g.56226174G>A g.56192262G>A GNAO1(NM_020988.3):c.27G>A (p.E9=) - GNAO1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.32C>T r.(?) p.(Ala11Val) Unknown - benign g.56226179C>T g.56192267C>T - - GNAO1_000054 - Journal: Saez Gonzalez 2023 - rs1380348729 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.38T>C r.(?) p.(Leu13Pro) Unknown - likely pathogenic g.56226185T>C g.56192273T>C - - GNAO1_000055 - Journal: Saez Gonzalez 2023 - rs1555499768 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.58G>A r.(?) p.(Glu20Lys) Unknown - VUS g.56226205G>A g.56192293G>A - - GNAO1_000056 - Journal: Saez Gonzalez 2023 - rs2036182701 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.68T>C r.(?) p.(Leu23Pro) Unknown - likely pathogenic g.56226215T>C g.56192303T>C - - GNAO1_000057 - PubMed: Wirth 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Wirth 2022 - F - - - - - - partially refractory response to treatment movement disorder 1 Harald Mikkers
+?/. - c.68T>C r.(?) p.(Leu23Pro) Unknown - likely pathogenic g.56226215T>C g.56192303T>C - - GNAO1_000057 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75G>A r.(?) p.(Glu25=) Unknown - likely benign g.56226222G>A g.56192310G>A GNAO1(NM_020988.3):c.75G>A (p.E25=), GNAO1(NM_138736.2):c.75G>A (p.E25=) - GNAO1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75G>A r.(?) p.(Glu25=) Unknown - likely benign g.56226222G>A g.56192310G>A GNAO1(NM_020988.3):c.75G>A (p.E25=), GNAO1(NM_138736.2):c.75G>A (p.E25=) - GNAO1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76G>A r.(?) p.(Asp26Asn) Unknown - VUS g.56226223G>A g.56192311G>A - - GNAO1_000058 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.89C>T r.(?) p.(Ala30Val) Unknown - VUS g.56226236C>T g.56192324C>T - - GNAO1_000059 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.94A>G r.(?) p.(Lys32Glu) Unknown - VUS g.56226241A>G g.56192329A>G - - GNAO1_000060 - Journal: Saez Gonzalez 2023 - rs2036182956 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.100G>A r.(?) p.(Val34Met) Unknown - VUS g.56226247G>A g.56192335G>A - - GNAO1_000061 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.100G>C r.(?) p.(Val34Leu) Unknown - VUS g.56226247G>C g.56192335G>C - - GNAO1_000419 - Journal: Saez Gonzalez 2023 - rs1567431805 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.108A>C r.(?) p.(Leu36Phe) Unknown - VUS g.56226255A>C g.56192343A>C - - GNAO1_000062 - Journal: Saez Gonzalez 2023 - rs1284492592 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.111_113del r.(?) p.(Leu39del) Unknown - likely pathogenic g.56226258_56226260del g.56192346_56192348del 111_113delCCT - GNAO1_000063 - PubMed: Wirth 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: DDD 2017 - F - United Kingdom (Great Britain) - - - - - 1 Harald Mikkers
+?/. - c.111_113del r.(?) p.(Leu39del) Unknown - likely pathogenic g.56226258_56226260del g.56192346_56192348del - - GNAO1_000063 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.115C>T r.(?) p.(Leu39Phe) Unknown - VUS g.56226262C>T g.56192350C>T - - GNAO1_000064 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.116T>C r.(?) p.(Leu39Pro) Unknown - likely pathogenic g.56226263T>C g.56192351T>C - - GNAO1_000065 - Journal: Saez Gonzalez 2023 - rs1555499769 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.118G>A r.(?) p.(Gly40Arg) Unknown - pathogenic g.56226265G>A g.56192353G>A - - GNAO1_000066 - PubMed: Bruun 2018 - rs886041715 Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Bruun 2018 - M - Canada - - - - - 1 Harald Mikkers
+/. - c.118G>A r.(?) p.(Gly40Arg) Unknown - pathogenic g.56226265G>A g.56192353G>A - - GNAO1_000066 - PubMed: DDD 2015 - rs886041715 Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: DDD 2015 - F - - - - - - - 1 Harald Mikkers
+/. - c.118G>A r.(?) p.(Gly40Arg) Unknown - pathogenic g.56226265G>A g.56192353G>A - - GNAO1_000066 - Lecoquierre 2018 - rs886041715 Germline/De novo (untested) - - - - - DNA SEQ - - ? - Lecoquierre 2018 - - - France - - - - - 1 Harald Mikkers
+/. - c.118G>A r.(?) p.(Gly40Arg) Unknown - pathogenic g.56226265G>A g.56192353G>A - - GNAO1_000066 - Journal: Saez Gonzalez 2023 - rs886041715 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.118G>A r.(?) p.(Gly40Arg) Unknown - likely pathogenic (dominant) g.56226265G>A g.56192353G>A - - GNAO1_000066 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2375.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.118G>C r.(?) p.(Gly40Arg) Unknown - likely pathogenic g.56226265G>C g.56192353G>C - - GNAO1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.118G>C r.(?) p.(Gly40Arg) Unknown - pathogenic g.56226265G>C g.56192353G>C - - GNAO1_000021 - Lecoquierre 2018 - rs886041715 Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Danti 2017 - F - Italy - - - - refractory response to epilepsy treatment 1 Harald Mikkers
+/. - c.118G>C r.(?) p.(Gly40Arg) Unknown - pathogenic g.56226265G>C g.56192353G>C - - GNAO1_000021 - PubMed: Danti 2017 - rs886041715 Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Kelly 2019 - M - - - - - - - 1 Harald Mikkers
+/. - c.118G>C r.(?) p.(Gly40Arg) Unknown - pathogenic g.56226265G>C g.56192353G>C - - GNAO1_000021 - PubMed: Kelly 2019 - rs886041715 Germline/De novo (untested) - - - - - DNA SEQ - - ? - Journal: Saez Gonzalez 2023 - F - - - - - - - 1 Harald Mikkers
+/. - c.118G>C r.(?) p.(Gly40Arg) Unknown - pathogenic g.56226265G>C g.56192353G>C - - GNAO1_000021 - Journal: Saez Gonzalez 2023 - rs886041715 Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: DDD 2017 - F - United Kingdom (Great Britain) - - - - - 1 Harald Mikkers
+/. - c.118G>C r.(?) p.(Gly40Arg) Unknown - pathogenic g.56226265G>C g.56192353G>C - - GNAO1_000021 - PubMed: DDD 2017 - rs886041715 Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Takata 2019 - - - - - - - - - 1 Harald Mikkers
+/. - c.118G>C r.(?) p.(Gly40Arg) Unknown - pathogenic g.56226265G>C g.56192353G>C - - GNAO1_000021 - PubMed: Yang 2021 - rs886041715 Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Yang 2021 - M - China - - - - symptom-free after epilepsy treatment 1 Harald Mikkers
+/. - c.118G>C r.(?) p.(Gly40Arg) Unknown - pathogenic g.56226265G>C g.56192353G>C - - GNAO1_000021 - Journal: Saez Gonzalez 2023 - rs886041715 Germline/De novo (untested) - - - - - DNA SEQ - - ? - Journal: Saez Gonzalez 2023 - F - - - - - - - 1 Harald Mikkers
+/. - c.118G>C r.(?) p.(Gly40Arg) Unknown - pathogenic g.56226265G>C g.56192353G>C - - GNAO1_000021 - Journal: Saez Gonzalez 2023 - rs886041715 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.118G>C r.(?) p.(Gly40Arg) Unknown ACMG pathogenic (dominant) g.56226265G>C g.56192353G>C - - GNAO1_000021 ACMG PM2, PM5, PP3, PS1, PM1, PP2, PP5, PS2 PubMed: Domínguez-Carral 2023 - - De novo - - - - - DNA SEQ - - ? Pat1 PubMed: Domínguez-Carral 2023 - F - Spain - - - - - 1 Johan den Dunnen
+/. - c.118G>T r.(?) p.(Gly40Trp) Unknown - pathogenic g.56226265G>T g.56192353G>T - - GNAO1_000067 - PubMed: Rim 2018 - rs886041715 Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Rim 2018 - M - - - - - - - 1 Harald Mikkers
+/. - c.118G>T r.(?) p.(Gly40Trp) Unknown - pathogenic g.56226265G>T g.56192353G>T - - GNAO1_000067 - PubMed: Kelly 2019 - rs886041715 Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Kelly 2019 - F - - - - - - - 1 Harald Mikkers
+/. - c.118G>T r.(?) p.(Gly40Trp) Unknown - pathogenic g.56226265G>T g.56192353G>T - - GNAO1_000067 - Journal: Saez Gonzalez 2023 - rs886041715 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.119G>A r.(?) p.(Gly40Glu) Unknown - pathogenic g.56226486G>A g.56192574G>A - - GNAO1_000068 - PubMed: Kelly 2019 - rs886041766 Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Kelly 2019 - M - - - - - - - 1 Harald Mikkers
+/. - c.119G>A r.(?) p.(Gly40Glu) Unknown - pathogenic g.56226486G>A g.56192574G>A - - GNAO1_000068 - PubMed: Kelly 2019 - rs886041766 Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Kelly 2019 - F - - - - - - - 1 Harald Mikkers
+/. - c.119G>A r.(?) p.(Gly40Glu) Unknown - pathogenic g.56226486G>A g.56192574G>A - - GNAO1_000068 - Journal: Saez Gonzalez 2023 - rs886041766 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.119G>T r.(?) p.(Gly40Val) Unknown - pathogenic g.56226486G>T g.56192574G>T - - GNAO1_000069 - Journal: Saez Gonzalez 2023 - rs886041766 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.121G>A r.(?) p.(Ala41Thr) Unknown - VUS g.56226488G>A g.56192576G>A - - GNAO1_000070 - Journal: Saez Gonzalez 2023 - rs2036187623 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.124G>A r.(?) p.(Gly42Arg) Unknown - pathogenic g.56226491G>A g.56192579G>A - - GNAO1_000071 - PubMed: Liu 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Liu 2022 - F - China - - - - refractory response to treatment movement disorder 1 Harald Mikkers
+/. - c.124G>A r.(?) p.(Gly42Arg) Unknown - pathogenic g.56226491G>A g.56192579G>A - - GNAO1_000071 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.124G>C r.(?) p.(Gly42Arg) Unknown - pathogenic (dominant) g.56226491G>C g.56192579G>C - - GNAO1_000030 - PubMed: Zhu 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio45 PubMed: Zhu 2015 - M - United States - - - - - 1 Johan den Dunnen
+?/. - c.127G>C r.(?) p.(Glu43Gln) Unknown - likely pathogenic g.56226494G>C g.56192582G>C - - GNAO1_000072 - Journal: Saez Gonzalez 2023 - rs2036187686 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.133G>C r.(?) p.(Gly45Arg) Unknown ACMG pathogenic (dominant) g.56226500G>C g.56192588G>C - - GNAO1_000029 - PubMed: Helbig 2016 - - De novo - - - - - DNA SEQ-NG - WES seizures Pat14 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.133G>C r.(?) p.(Gly45Arg) Unknown - pathogenic g.56226500G>C g.56192588G>C - - GNAO1_000029 - PubMed: Powis 2020 - rs869312939 Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Powis 2020 - M - - - - - - partially refractory response to epilepsy treatment 1 Harald Mikkers
+/. - c.133G>C r.(?) p.(Gly45Arg) Unknown - pathogenic g.56226500G>C g.56192588G>C - - GNAO1_000029 - Journal: Saez Gonzalez 2023 - rs869312939 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.134G>A r.(?) p.(Gly45Glu) Unknown - pathogenic g.56226501G>A g.56192589G>A - - GNAO1_000073 - PubMed: Gawlinski 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Gawlinski 2016 - F - - - - - - - 1 Harald Mikkers
+/. - c.134G>A r.(?) p.(Gly45Glu) Unknown - pathogenic g.56226501G>A g.56192589G>A - - GNAO1_000073 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.136A>G r.(?) p.(Lys46Glu) Unknown - pathogenic g.56226503A>G g.56192591A>G - - GNAO1_000074 - PubMed: Yang 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Yang 2021 - F - China - - - - refractory response to epilepsy treatment 1 Harald Mikkers
+/. - c.136A>G r.(?) p.(Lys46Glu) Unknown - pathogenic g.56226503A>G g.56192591A>G - - GNAO1_000074 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.137A>G r.(?) p.(Lys46Arg) Unknown - likely pathogenic g.56226504A>G g.56192592A>G - - GNAO1_000075 - PubMed: Wirth 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Wirth 2022 - F - - - - - - - 1 Harald Mikkers
+?/. - c.137A>G r.(?) p.(Lys46Arg) Unknown - likely pathogenic g.56226504A>G g.56192592A>G - - GNAO1_000075 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.137A>G r.(?) p.(Lys46Arg) Unknown ACMG pathogenic (dominant) g.56226504A>G g.56192592A>G - - GNAO1_000075 ACMG PM1, PM2, PM5, PP2, PP3, PS2 PubMed: Domínguez-Carral 2023 - - De novo - - - - - DNA SEQ - - ? Pat2 PubMed: Domínguez-Carral 2023 - F - Spain - - - - - 1 Johan den Dunnen
+?/. - c.138A>T r.(?) p.(Lys46Asn) Unknown - likely pathogenic g.56226505A>T g.56192593A>T - - GNAO1_000076 - PubMed: Thiel 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Thiel 2023 - - - Germany - - - - partially refractory response to treatment movement disorder 1 Harald Mikkers
+?/. - c.138A>T r.(?) p.(Lys46Asn) Unknown - likely pathogenic g.56226505A>T g.56192593A>T - - GNAO1_000076 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.139A>G r.(?) p.(Ser47Gly) Unknown - likely pathogenic g.56226506A>G g.56192594A>G - - GNAO1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.139A>G r.(?) p.(Ser47Gly) Unknown - pathogenic g.56226506A>G g.56192594A>G - - GNAO1_000018 - PubMed: Danti 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Danti 2017 - M - Italy - - - - partially refractory response to treatment movement disorder; symptom-free after epilepsy treatment 1 Harald Mikkers
+/. - c.139A>G r.(?) p.(Ser47Gly) Unknown - pathogenic g.56226506A>G g.56192594A>G - - GNAO1_000018 - Journal: Saez Gonzalez 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - Journal: Saez Gonzalez 2023 - F - - - - - - - 1 Harald Mikkers
+/. - c.139A>G r.(?) p.(Ser47Gly) Unknown - pathogenic g.56226506A>G g.56192594A>G - - GNAO1_000018 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.140G>A r.(?) p.(Ser47Asn) Unknown - pathogenic g.56226507G>A g.56192595G>A - - GNAO1_000077 - Journal: Saez Gonzalez 2023 - rs1596787821 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.141C>A r.(?) p.(Ser47Arg) Unknown - likely pathogenic g.56226508C>A g.56192596C>A GNAO1(NM_138736.3):c.141C>A (p.S47R) - GNAO1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.141C>A r.(?) p.(Ser47Arg) Unknown - likely pathogenic g.56226508C>A g.56192596C>A - - GNAO1_000022 - Journal: Saez Gonzalez 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? Pat5 Journal: Saez Gonzalez 2023 - M - Netherlands - - - - partially refractory response to treatment movement disorder; refractory response to epilepsy treatment 1 Harald Mikkers
+?/. - c.141C>A r.(?) p.(Ser47Arg) Unknown - likely pathogenic g.56226508C>A g.56192596C>A - - GNAO1_000022 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.143C>A r.(?) p.(Thr48Asn) Unknown - likely pathogenic g.56226510C>A g.56192598C>A - - GNAO1_000078 - Journal: Saez Gonzalez 2023 - rs1555499800 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.143C>T r.(?) p.(Thr48Ile) Unknown - likely pathogenic g.56226510C>T g.56192598C>T - - GNAO1_000079 - Journal: Saez Gonzalez 2023 - rs1555499800 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.143C>T r.(?) p.(Thr48Ile) Unknown ACMG pathogenic (dominant) g.56226510C>T g.56192598C>T - - GNAO1_000079 ACMG PM1, PM2, PM5, PP2, PP3, PS2 PubMed: Domínguez-Carral 2023 - - De novo - - - - - DNA SEQ - - ? Pat3 PubMed: Domínguez-Carral 2023 - F - Spain - - - - - 1 Johan den Dunnen
?/. - c.145A>C r.(?) p.(Ile49Leu) Unknown - VUS g.56226512A>C g.56192600A>C - - GNAO1_000081 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.145A>T r.(?) p.(Ile49Phe) Unknown - VUS g.56226512A>T g.56192600A>T - - GNAO1_000080 - Journal: Saez Gonzalez 2023 - rs763223472 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.151A>G r.(?) p.(Lys51Glu) Unknown - VUS g.56226518A>G g.56192606A>G - - GNAO1_000082 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.155A>C r.(?) p.(Gln52Pro) Unknown - pathogenic g.56226522A>C g.56192610A>C - - GNAO1_000083 - PubMed: Rim 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Rim 2018 - - - - - - - - - 1 Harald Mikkers
+/. - c.155A>C r.(?) p.(Gln52Pro) Unknown - pathogenic g.56226522A>C g.56192610A>C - - GNAO1_000083 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.155A>G r.(?) p.(Gln52Arg) Unknown - pathogenic g.56226522A>G g.56192610A>G - - GNAO1_000084 - PubMed: Solis 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Solis 2021 - M - - - - - - symptom-free after epilepsy treatment 1 Harald Mikkers
+/. - c.155A>G r.(?) p.(Gln52Arg) Unknown - pathogenic g.56226522A>G g.56192610A>G - - GNAO1_000084 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.158T>A r.(?) p.(Met53Lys) Unknown - VUS g.56226525T>A g.56192613T>A - - GNAO1_000085 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161+8C>T r.(=) p.(=) Unknown - likely benign g.56226536C>T g.56192624C>T GNAO1(NM_020988.3):c.161+8C>T - GNAO1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.163_164del r.163_164del p.Ile55HisfsTer3 Unknown - pathogenic (dominant) g.56309844_56309845del g.56275932_56275933del - - GNAO1_000042 mRNA expression 0.5, no truncated protein detected PubMed: Galosi 2023 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES seizures patient PubMed: Galosi 2023 - M - Italy - - - - - 1 Johan den Dunnen
?/. - c.164T>A r.(?) p.(Ile55Asn) Unknown - VUS g.56309845T>A g.56275933T>A GNAO1(NM_020988.3):c.164T>A (p.I55N) - GNAO1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.164T>A r.(?) p.(Ile55Asn) Unknown - VUS g.56309845T>A g.56275933T>A - - GNAO1_000034 - Journal: Saez Gonzalez 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - Journal: Saez Gonzalez 2023 - F - - - - - - - 1 Harald Mikkers
?/. - c.164T>A r.(?) p.(Ile55Asn) Unknown - VUS g.56309845T>A g.56275933T>A - - GNAO1_000034 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.167T>C r.(?) p.(Ile56Thr) Unknown - likely pathogenic g.56309848T>C g.56275936T>C - - GNAO1_000086 - PubMed: Danti 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Danti 2017 - F - Italy - - - - symptom-free after epilepsy treatment 1 Harald Mikkers
+?/. - c.167T>C r.(?) p.(Ile56Thr) Unknown - likely pathogenic g.56309848T>C g.56275936T>C - - GNAO1_000086 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170A>C r.(?) p.(His57Pro) Unknown - VUS g.56309851A>C g.56275939A>C - - GNAO1_000087 - PubMed: Thiel 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Thiel 2023 - - - Germany - - - - partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment 1 Harald Mikkers
?/. - c.170A>C r.(?) p.(His57Pro) Unknown - VUS g.56309851A>C g.56275939A>C - - GNAO1_000087 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170A>G r.(?) p.(His57Arg) Unknown - VUS g.56309851A>G - GNAO1(NM_020988.3):c.170A>G (p.(His57Arg)) - GNAO1_000425 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187G>A r.(?) p.(Gly63Arg) Unknown - VUS g.56309868G>A g.56275956G>A - - GNAO1_000088 - Journal: Saez Gonzalez 2023 - rs940833242 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196G>A r.(?) p.(Val66Met) Unknown - VUS g.56309877G>A g.56275965G>A - - GNAO1_000089 - Journal: Saez Gonzalez 2023 - rs557932562 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.207C>A r.(?) p.(Tyr69Ter) Unknown - likely pathogenic g.56309888C>A g.56275976C>A - - GNAO1_000090 - Journal: Saez Gonzalez 2023 - rs77558236 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.214G>A r.(?) p.(Val72Ile) Unknown - VUS g.56309895G>A g.56275983G>A - - GNAO1_000091 - Journal: Saez Gonzalez 2023 - rs371330886 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.218T>A r.(?) p.(Val73Asp) Unknown - VUS g.56309899T>A g.56275987T>A - - GNAO1_000092 - PubMed: Thiel 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Thiel 2023 - - - Germany - - - - partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment 1 Harald Mikkers
?/. - c.218T>A r.(?) p.(Val73Asp) Unknown - VUS g.56309899T>A g.56275987T>A - - GNAO1_000092 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.220T>G r.(?) p.(Tyr74Asp) Unknown - pathogenic g.56309901T>G g.56275989T>G - - GNAO1_000007 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.220T>G r.(?) p.(Tyr74Asp) Unknown - pathogenic g.56309901T>G g.56275989T>G - - GNAO1_000007 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Harald Mikkers
+/. - c.220T>G r.(?) p.(Tyr74Asp) Unknown - pathogenic g.56309901T>G g.56275989T>G - - GNAO1_000007 - Journal: Saez Gonzalez 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224G>A r.(?) p.(Ser75Asn) Unknown - VUS g.56309905G>A g.56275993G>A - - GNAO1_000093 - Journal: Saez Gonzalez 2023 - rs2037057993 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.229A>C r.(?) p.(Thr77Pro) Unknown - likely pathogenic g.56309910A>C g.56275998A>C - - GNAO1_000094 - Journal: Saez Gonzalez 2023 - rs1596836465 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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