Full data view for gene ATP1A3

Information The variants shown are described using the NM_152296.4 transcript reference sequence.

290 entries on 3 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.6+3A>G r.spl? p.? Unknown - likely benign g.42498220T>C - ATP1A3(NM_001256214.1):c.6+3A>G - ATP1A3_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7-5C>T r.spl? p.? Unknown - likely benign g.42492719G>A - ATP1A3(NM_001256214.1):c.41C>T (p.S14L) - ATP1A3_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18T>C r.(?) p.(Asp6=) Unknown - likely benign g.42492703A>G g.41988551A>G ATP1A3(NM_001256214.1):c.57T>C (p.D19=) - ATP1A3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.56G>A r.(?) p.(Arg19His) Unknown ACMG VUS g.42492665C>T - - - ATP1A3_000131 ACMG grading: BP4,PM2 2y old male - - rs782596240 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
-?/. - c.94-16A>C r.(=) p.(=) Unknown - likely benign g.42492545T>G - ATP1A3(NM_001256213.1):c.127-16A>C (p.(=)) - ATP1A3_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.128G>A r.(?) p.(Arg43Gln) Unknown - VUS g.42492495C>T g.41988343C>T - - ATP1A3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154-5C>G r.spl? p.? Unknown - likely benign g.42492296G>C g.41988144G>C ATP1A3(NM_001256213.1):c.187-5C>G (p.?), ATP1A3(NM_001256214.2):c.193-5C>G - ATP1A3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154-5C>G r.spl? p.? Unknown - likely benign g.42492296G>C g.41988144G>C ATP1A3(NM_001256213.1):c.187-5C>G (p.?), ATP1A3(NM_001256214.2):c.193-5C>G - ATP1A3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154-5C>G r.spl? p.? Unknown - likely benign g.42492296G>C - ATP1A3(NM_001256213.1):c.187-5C>G (p.?), ATP1A3(NM_001256214.2):c.193-5C>G - ATP1A3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.191G>A r.(?) p.(Arg64Gln) Unknown - VUS g.42492254C>T g.41988102C>T ATP1A3(NM_001256214.1):c.230G>A (p.R77Q) - ATP1A3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.193G>C r.(?) p.(Asp65His) Unknown - VUS g.42492252C>G g.41988100C>G - - ATP1A3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.207A>T r.(?) p.(Ala69=) Unknown - benign g.42492238T>A g.41988086T>A ATP1A3(NM_001256214.1):c.246A>T (p.A82=), ATP1A3(NM_001256214.2):c.246A>T (p.A82=) - ATP1A3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.207A>T r.(?) p.(Ala69=) Unknown - benign g.42492238T>A g.41988086T>A ATP1A3(NM_001256214.1):c.246A>T (p.A82=), ATP1A3(NM_001256214.2):c.246A>T (p.A82=) - ATP1A3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.219G>A r.(?) p.(Pro73=) Unknown - likely benign g.42492226C>T g.41988074C>T - - ATP1A3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.283T>C r.(?) p.(Trp95Arg) Unknown - VUS g.42492162A>G g.41988010A>G - - ATP1A3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.298C>G r.(?) p.(Leu100Val) Unknown - pathogenic g.42492147G>C g.41987995G>C - - ATP1A3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357C>T r.(?) p.(Asn119=) Unknown - likely benign g.42492088G>A g.41987936G>A ATP1A3(NM_001256213.1):c.390C>T (p.(Asn130=)), ATP1A3(NM_001256214.1):c.396C>T (p.N132=), ATP1A3(NM_001256214.2):c.396C>T (p.N132=) - ATP1A3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357C>T r.(?) p.(Asn119=) Unknown - likely benign g.42492088G>A g.41987936G>A ATP1A3(NM_001256213.1):c.390C>T (p.(Asn130=)), ATP1A3(NM_001256214.1):c.396C>T (p.N132=), ATP1A3(NM_001256214.2):c.396C>T (p.N132=) - ATP1A3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357C>T r.(?) p.(Asn119=) Unknown - likely benign g.42492088G>A g.41987936G>A ATP1A3(NM_001256213.1):c.390C>T (p.(Asn130=)), ATP1A3(NM_001256214.1):c.396C>T (p.N132=), ATP1A3(NM_001256214.2):c.396C>T (p.N132=) - ATP1A3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357C>T r.(?) p.(Asn119=) Unknown - likely benign g.42492088G>A - ATP1A3(NM_001256213.1):c.390C>T (p.(Asn130=)), ATP1A3(NM_001256214.1):c.396C>T (p.N132=), ATP1A3(NM_001256214.2):c.396C>T (p.N132=) - ATP1A3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363C>T r.(?) p.(Tyr121=) Unknown - likely benign g.42490376G>A - ATP1A3(NM_001256214.1):c.402C>T (p.Y134=), ATP1A3(NM_001256214.2):c.402C>T (p.Y134=) - ATP1A3_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.363C>T r.(?) p.(Tyr121=) Unknown - benign g.42490376G>A - ATP1A3(NM_001256214.1):c.402C>T (p.Y134=), ATP1A3(NM_001256214.2):c.402C>T (p.Y134=) - ATP1A3_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.410C>A r.(?) p.(Ser137Tyr) Unknown - pathogenic g.42490329G>T g.41986177G>T - - ATP1A3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.410C>A r.(?) p.(Ser137Tyr) Parent #1 - pathogenic g.42490329G>T g.41986177G>T - - ATP1A3_000011 - PubMed: Heinzen 2012 - - De novo - - - - - DNA SEQ - - AHC 228422324-Pat PubMed: Heinzen 2012 - - - - - - - - - 2 Johan den Dunnen
+?/. 5 c.410C>A r.(?) p.(Ser137Tyr) Parent #1 - likely pathogenic g.42490329G>T g.41986177G>T - - ATP1A3_000011 - PubMed: Yang 2014 - - De novo - - - - - DNA SEQ-NG-I, PCR, SEQ - - AHC A02103 PubMed: Yang 2014 - F no China Han - - - - 1 Gao Hua
+/. 5 c.410C>T r.(?) p.(Ser137Phe) Parent #1 - pathogenic g.42490329G>A g.41986177G>A - - ATP1A3_000025 - PubMed: Heinzen 2012 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I, SEQ - - AHC 228422324-1 PubMed: Heinzen 2012 - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.410C>T r.(?) p.(Ser137Phe) Unknown ACMG pathogenic g.42490329G>A g.41986177G>A 449C>T - ATP1A3_000025 - PubMed: TumienÄ— 2018 - - De novo - - - - - DNA SEQ-NG - WES ? 29286531-Pat06 PubMed: TumienÄ— 2018 - - - (Slovenia) - - - - - 1 Johan den Dunnen
+/. 5 c.419A>T r.(?) p.(Gln140Leu) Parent #1 - pathogenic g.42490320T>A g.41986168T>A - - ATP1A3_000026 - PubMed: Heinzen 2012 - - De novo - - - - - DNA SEQ - - AHC 228422324-T PubMed: Heinzen 2012 - - - - - - - - - 1 Johan den Dunnen
?/. - c.446A>G r.(?) p.(Glu149Gly) Unknown - VUS g.42490293T>C g.41986141T>C - - ATP1A3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.467C>T r.(?) p.(Pro156Leu) Unknown - likely pathogenic g.42490272G>A - - - ATP1A3_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.658G>A r.(?) p.(Asp220sn) Parent #1 - pathogenic g.42489524C>T g.41985372C>T - - ATP1A3_000027 - PubMed: Heinzen 2012 - - De novo - - - - - DNA SEQ - - AHC 228422324-CX PubMed: Heinzen 2012 - - - - - - - - - 1 Johan den Dunnen
-/. - c.666T>G r.(?) p.(Thr222=) Unknown - benign g.42489516A>C g.41985364A>C ATP1A3(NM_001256214.2):c.705T>G (p.T235=), ATP1A3(NM_152296.5):c.666T>G (p.T222=) - ATP1A3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.666T>G r.(?) p.(Thr222=) Unknown - benign g.42489516A>C g.41985364A>C ATP1A3(NM_001256214.2):c.705T>G (p.T235=), ATP1A3(NM_152296.5):c.666T>G (p.T222=) - ATP1A3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.666T>G r.(?) p.(Thr222=) Unknown - benign g.42489516A>C g.41985364A>C ATP1A3(NM_001256214.2):c.705T>G (p.T235=), ATP1A3(NM_152296.5):c.666T>G (p.T222=) - ATP1A3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.666T>G r.(?) p.(Thr222=) Unknown - benign g.42489516A>C g.41985364A>C ATP1A3(NM_001256214.2):c.705T>G (p.T235=), ATP1A3(NM_152296.5):c.666T>G (p.T222=) - ATP1A3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.689G>A r.(?) p.(Arg230Gln) Unknown - VUS g.42489493C>T g.41985341C>T ATP1A3(NM_001256214.1):c.728G>A (p.R243Q) - ATP1A3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.816G>A r.(?) p.(Thr272=) Unknown - likely benign g.42489247C>T g.41985095C>T ATP1A3(NM_001256214.2):c.855G>A (p.T285=), ATP1A3(NM_152296.5):c.816G>A (p.T272=) - ATP1A3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.816G>A r.(?) p.(Thr272=) Unknown - benign g.42489247C>T g.41985095C>T ATP1A3(NM_001256214.2):c.855G>A (p.T285=), ATP1A3(NM_152296.5):c.816G>A (p.T272=) - ATP1A3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.816G>A r.(?) p.(Thr272=) Unknown - likely benign g.42489247C>T - ATP1A3(NM_001256214.2):c.855G>A (p.T285=), ATP1A3(NM_152296.5):c.816G>A (p.T272=) - ATP1A3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.821T>A r.(?) p.(Ile274Asn) Parent #1 - pathogenic g.42489242A>T g.41985090A>T - - ATP1A3_000028 - PubMed: Heinzen 2012 - - Germline - - - - - DNA SEQ - - AHC 228422324-N PubMed: Heinzen 2012 - - - - - - - - - 1 Johan den Dunnen
+/. - c.821T>A r.(?) p.(Ile274Asn) Unknown - pathogenic g.42489242A>T - - - ATP1A3_000028 - Journal: Cordani 2021 - - De novo - - - - - DNA SEQ - - AHC - Journal: Cordani 2021 - - - - - - - - - 1 Elisa De Grandis
+/. 8 c.821T>C r.(?) p.(Ile274Thr) Parent #1 - pathogenic g.42489242A>G g.41985090A>G - - ATP1A3_000005 - PubMed: de Carvalho Aguiar 2004, OMIM:var0002 - - Germline/De novo (untested) - - - - - DNA SEQ - - DYT ? PubMed: de Carvalho Aguiar 2004 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.829G>A r.(?) p.(Glu277Lys) Parent #1 - pathogenic g.42489234C>T g.41985082C>T - - ATP1A3_000006 - PubMed: de Carvalho Aguiar 2004, OMIM:var0003 - - Germline/De novo (untested) - - - - - DNA SEQ - - DYT ? PubMed: de Carvalho Aguiar 2004 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.829G>A r.(?) p.(Glu277Lys) Parent #1 - pathogenic g.42489234C>T g.41985082C>T - - ATP1A3_000006 - PubMed: Tarsy 2010, OMIM:var0003 - - Germline/De novo (untested) - - - - - DNA SEQ - - DYT ? PubMed: Tarsy 2010 - - - - Africa Caribbean - - - - 1 Johan den Dunnen
?/. - c.838C>T r.(?) p.(His280Tyr) Unknown - VUS g.42489225G>A - - - ATP1A3_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.844A>C r.(?) p.(Ile282Leu) Unknown - VUS g.42489219T>G g.41985067T>G NM_001256213.1:c.877A>C (Ile293Leu) - ATP1A3_000151 - PubMed: Al-Kasbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID 11MS3200 PubMed: Al-Kasbi 2022 patient, no other affecteds in family F - Oman - - - - - 1 Johan den Dunnen
?/. - c.884C>T r.(?) p.(Ser295Phe) Unknown - VUS g.42489179G>A g.41985027G>A - - ATP1A3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909C>T r.(?) p.(Leu303=) Unknown - likely benign g.42489154G>A - ATP1A3(NM_001256214.1):c.948C>T (p.L316=) - ATP1A3_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.955G>A r.(?) p.(Val319Met) Unknown - VUS g.42489108C>T - ATP1A3(NM_152296.5):c.955G>A (p.V319M) - ATP1A3_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.964G>A r.(?) p.(Val322Ile) Unknown - pathogenic g.42489099C>T g.41984947C>T - - ATP1A3_000046 - 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.965T>A r.(?) p.(Val322Asp) Unknown - pathogenic g.42489098A>T - - - ATP1A3_000144 - Journal: Cordani 2021 - - De novo - - - - - DNA SEQ - - AHC - Journal: Cordani 2021 - - - Italy - - - - - 1 Elisa De Grandis
+?/. - c.971A>G r.(?) p.(Glu324Gly) Unknown ACMG likely pathogenic (dominant) g.42489092T>C g.41984940T>C - - ATP1A3_000128 - PubMed: Helbig 2016 - - De novo - - - - - DNA SEQ-NG - WES seizures Pat12 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.973G>C r.(?) p.(Gly325Arg) Unknown - likely pathogenic g.42489090C>G g.41984938C>G - - ATP1A3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.974G>A r.(?) p.(Gly325Asp) Parent #1 - likely pathogenic g.42489089C>T g.41984937C>T - - ATP1A3_000124 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs863224847 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 8 c.979_981del r.(?) p.(Leu327del) Parent #1 - pathogenic g.42489085_42489087del g.41984933_41984935del 979_981delCTG - ATP1A3_000007 - PubMed: Kamm 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DYT ? PubMed: Kamm 2008 - - - - - - - - - 1 Johan den Dunnen
?/. - c.992C>T r.(?) p.(Thr331Ile) Unknown - VUS g.42489071G>A g.41984919G>A ATP1A3(NM_152296.4):c.992C>T (p.?) - ATP1A3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.994-20T>G r.(=) p.(=) Unknown - benign g.42486278A>C g.41982126A>C ATP1A3(NM_001256213.1):c.1027-20T>G (p.(=)), ATP1A3(NM_152296.5):c.994-20T>G - ATP1A3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.994-20T>G r.(=) p.(=) Unknown - likely benign g.42486278A>C g.41982126A>C ATP1A3(NM_001256213.1):c.1027-20T>G (p.(=)), ATP1A3(NM_152296.5):c.994-20T>G - ATP1A3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.994-20T>G r.(=) p.(=) Unknown - benign g.42486278A>C g.41982126A>C ATP1A3(NM_001256213.1):c.1027-20T>G (p.(=)), ATP1A3(NM_152296.5):c.994-20T>G - ATP1A3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.994-20T>G r.(=) p.(=) Unknown - likely benign g.42486278A>C - ATP1A3(NM_001256213.1):c.1027-20T>G (p.(=)), ATP1A3(NM_152296.5):c.994-20T>G - ATP1A3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.994-3C>G r.spl? p.? Unknown - VUS g.42486261G>C g.41982109G>C ATP1A3(NM_001256214.1):c.1033-3C>G - ATP1A3_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.998G>T r.(?) p.(Cys333Phe) Parent #1 - pathogenic g.42486254C>A g.41982102C>A - - ATP1A3_000029 - PubMed: Heinzen 2012 - - De novo - - - - - DNA SEQ-NG-I, SEQ - - AHC 228422324-E PubMed: Heinzen 2012 - - - - - - - - - 1 Johan den Dunnen
+/. 9 c.998G>T r.(?) p.(Cys333Phe) Parent #1 - pathogenic g.42486254C>A g.41982102C>A - - ATP1A3_000029 - PubMed: Heinzen 2012 - - De novo - - - - - DNA SEQ - - AHC 228422324-BT PubMed: Heinzen 2012 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1005G>A r.(?) p.(Thr335=) Unknown - likely benign g.42486247C>T g.41982095C>T ATP1A3(NM_001256214.1):c.1044G>A (p.T348=) - ATP1A3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1012G>C r.(?) p.(Ala338Pro) Unknown - pathogenic g.42486240C>G g.41982088C>G - - ATP1A3_000143 - Journal: Cordani 2021 - - De novo - - - - - DNA SEQ - - AHC - Journal: Cordani 2021 - - - Italy - - - - - 1 Elisa De Grandis
-?/. - c.1017G>A r.(?) p.(Lys339=) Unknown - likely benign g.42486235C>T - ATP1A3(NM_001256214.1):c.1056G>A (p.K352=) - ATP1A3_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1063_1065del r.(?) p.(Glu355del) Paternal (confirmed) - likely pathogenic g.42486188_42486190del g.41982036_41982038del - - ATP1A3_000097 - - - - Germline yes - - - - DNA SEQ, SEQ-NG-IT, TaqMan blood - AHC A11203 - - F yes China Chinese - - - VPA/LEV/TPM 1 Xiaoxu Yang
+?/. - c.1073G>T r.(?) p.(Gly358Val) Unknown - likely pathogenic g.42486179C>A - ATP1A3(NM_001256214.2):c.1112G>T (p.G371V) - ATP1A3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1076C>A r.(?) p.(Ser359Tyr) Unknown - likely pathogenic g.42486176G>T g.41982024G>T ATP1A3(NM_152296.4):c.1076C>A (p.(Ser359Tyr)) - ATP1A3_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1109C>A r.(?) p.(Thr370Asn) Unknown - pathogenic g.42486143G>T g.41981991G>T g.1109C>A - ATP1A3_000012 - - - - De novo - - - - - DNA SEQ - - AHC - - - - - China Chinese - - - - 7 Yangxiaoling
+?/. 9 c.1109C>A r.(?) p.(Thr370Asn) Parent #1 - likely pathogenic g.42486143G>T g.41981991G>T - - ATP1A3_000012 - PubMed: Yang 2014 - - De novo - - - - - DNA PCR, SEQ - - AHC A01903 PubMed: Yang 2014 - F no China Han - - - - 1 Gao Hua
+/. - c.1109C>A r.(?) p.(Thr370Asn) Unknown - pathogenic g.42486143G>T - - - ATP1A3_000012 - Journal: Cordani 2021 - - De novo - - - - - DNA SEQ - - AHC - Journal: Cordani 2021 - - - - - - - - - 1 Elisa De Grandis
-?/. - c.1164C>A r.(?) p.(His388Gln) Unknown - likely benign g.42486088G>T - ATP1A3(NM_001256214.1):c.1203C>A (p.H401Q) - ATP1A3_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1164C>T r.(?) p.(His388=) Unknown - likely benign g.42486088G>A - ATP1A3(NM_001256214.1):c.1203C>T (p.H401=) - ATP1A3_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1192+6C>T r.(=) p.(=) Unknown - likely benign g.42486054G>A g.41981902G>A ATP1A3(NM_001256214.1):c.1231+6C>T, ATP1A3(NM_001256214.2):c.1231+6C>T - ATP1A3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1192+6C>T r.(=) p.(=) Unknown - likely benign g.42486054G>A - ATP1A3(NM_001256214.1):c.1231+6C>T, ATP1A3(NM_001256214.2):c.1231+6C>T - ATP1A3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1193-4C>G r.spl? p.? Unknown - likely benign g.42485987G>C g.41981835G>C ATP1A3(NM_001256214.1):c.1232-4C>G, ATP1A3(NM_001256214.2):c.1232-4C>G - ATP1A3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1193-4C>G r.spl? p.? Unknown - likely benign g.42485987G>C g.41981835G>C ATP1A3(NM_001256214.1):c.1232-4C>G, ATP1A3(NM_001256214.2):c.1232-4C>G - ATP1A3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1193-4C>G r.spl? p.? Unknown - likely benign g.42485987G>C g.41981835G>C ATP1A3(NM_001256214.1):c.1232-4C>G, ATP1A3(NM_001256214.2):c.1232-4C>G - ATP1A3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1260C>T r.(?) p.(Arg420=) Unknown - likely benign g.42485916G>A g.41981764G>A ATP1A3(NM_001256214.1):c.1299C>T (p.R433=) - ATP1A3_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1303-15C>A r.(=) p.(=) Unknown - likely benign g.42485803G>T g.41981651G>T ATP1A3(NM_001256214.2):c.1342-15C>A - ATP1A3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323G>A r.(?) p.(Ala441=) Unknown - likely benign g.42485768C>T g.41981616C>T ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=) - ATP1A3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1323G>A r.(?) p.(Ala441=) Unknown - benign g.42485768C>T g.41981616C>T ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=) - ATP1A3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323G>A r.(?) p.(Ala441=) Unknown - likely benign g.42485768C>T g.41981616C>T ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=) - ATP1A3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323G>A r.(?) p.(Ala441=) Unknown - likely benign g.42485768C>T g.41981616C>T ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=) - ATP1A3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323G>A r.(?) p.(Ala441=) Unknown - likely benign g.42485768C>T - ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=) - ATP1A3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1328_1333del r.(?) p.(Glu443_Ser444del) Unknown - VUS g.42485763_42485768del g.41981611_41981616del - - ATP1A3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1387C>T r.(?) p.(Arg463Cys) Unknown - VUS g.42485704G>A - ATP1A3(NM_001256214.1):c.1426C>T (p.R476C) - ATP1A3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1387C>T r.(?) p.(Arg463Cys) Both (homozygous) ACMG likely pathogenic (recessive) g.42485704G>A g.41981552G>A NM_001256214:c.1426C>T - ATP1A3_000134 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M204 PubMed: Hu 2019 family, 2 affected individuals, second cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
-?/. - c.1413C>T r.(?) p.(Pro471=) Unknown - likely benign g.42485678G>A g.41981526G>A ATP1A3(NM_001256214.1):c.1452C>T (p.P484=) - ATP1A3_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1456G>A r.(?) p.(Glu486Lys) Unknown - VUS g.42482932C>T g.41978780C>T - - ATP1A3_000099 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
?/. - c.1472A>G r.(?) p.(Asn491Ser) Unknown - VUS g.42482916T>C - ATP1A3(NM_001256214.1):c.1511A>G (p.N504S) - ATP1A3_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1527C>T r.(?) p.(Ser509=) Unknown - likely benign g.42482861G>A g.41978709G>A ATP1A3(NM_001256214.1):c.1566C>T (p.S522=) - ATP1A3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1605C>T r.(?) p.(Leu535=) Unknown - likely benign g.42482783G>A - ATP1A3(NM_001256214.1):c.1644C>T (p.L548=) - ATP1A3_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1765G>T r.(?) p.(Val589Phe) Unknown - pathogenic g.42482344C>A - - - ATP1A3_000142 - Journal: Cordani 2021 - - De novo - - - - - DNA SEQ - - AHC - Journal: Cordani 2021 - - - - - - - - - 1 Elisa De Grandis
+?/. - c.1765G>T r.(?) p.(Val589Phe) Unknown - likely pathogenic (dominant) g.42482344C>A - NM_152296:c.G1765T (V589F) - ATP1A3_000142 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSJ0410 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
?/. - c.1774G>A r.(?) p.(Ala592Thr) Unknown - VUS g.42482335C>T g.41978183C>T - - ATP1A3_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1787G>A r.(?) p.(Cys596Tyr) Unknown - pathogenic g.42482322C>T g.41978170C>T ATP1A3(NM_001256214.2):c.1826G>A (p.C609Y) - ATP1A3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1789C>T r.(?) p.(Arg597Cys) Unknown - VUS g.42482320G>A - ATP1A3(NM_152296.5):c.1789C>T (p.R597C) - ATP1A3_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1822G>A r.(?) p.(Gly608Ser) Unknown - VUS g.42482209C>T g.41978057C>T - - ATP1A3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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