All variants in the ATP1A3 gene

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

284 entries on 3 pages. Showing entries 1 - 100.
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Effect     

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     
-?/. - c.6+3A>G r.spl? p.? - likely benign g.42498220T>C - ATP1A3(NM_001256214.1):c.6+3A>G - ATP1A3_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.7-5C>T r.spl? p.? - likely benign g.42492719G>A - ATP1A3(NM_001256214.1):c.41C>T (p.S14L) - ATP1A3_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.18T>C r.(?) p.(Asp6=) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.56G>A r.(?) p.(Arg19His) ACMG VUS g.42492665C>T - - - ATP1A3_000131 ACMG grading: BP4,PM2 2y old male - - rs782596240 Germline - - - 0 - Andreas Laner
?/. - c.128G>A r.(?) p.(Arg43Gln) - VUS g.42492495C>T g.41988343C>T - - ATP1A3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.154-5C>G r.spl? p.? - 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 - - - 0 - VKGL-NL_VUmc
-?/. - c.154-5C>G r.spl? p.? - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - c.154-5C>G r.spl? p.? - 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 - - - - - VKGL-NL_Leiden
?/. - c.191G>A r.(?) p.(Arg64Gln) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.193G>C r.(?) p.(Asp65His) - VUS g.42492252C>G g.41988100C>G - - ATP1A3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.207A>T r.(?) p.(Ala69=) - 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 - - - 0 - VKGL-NL_Groningen
-/. - c.207A>T r.(?) p.(Ala69=) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.219G>A r.(?) p.(Pro73=) - likely benign g.42492226C>T g.41988074C>T - - ATP1A3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.283T>C r.(?) p.(Trp95Arg) - VUS g.42492162A>G g.41988010A>G - - ATP1A3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.298C>G r.(?) p.(Leu100Val) - pathogenic g.42492147G>C g.41987995G>C - - ATP1A3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.357C>T r.(?) p.(Asn119=) - 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 - - - 0 - VKGL-NL_Groningen
-?/. - c.357C>T r.(?) p.(Asn119=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.357C>T r.(?) p.(Asn119=) - 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 - - - - - VKGL-NL_Utrecht
-?/. - c.357C>T r.(?) p.(Asn119=) - 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 - - - - - VKGL-NL_Leiden
-?/. - c.363C>T r.(?) p.(Tyr121=) - 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 - - - - - VKGL-NL_Rotterdam
-/. - c.363C>T r.(?) p.(Tyr121=) - 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 - - - - - VKGL-NL_Utrecht
+/. - c.410C>A r.(?) p.(Ser137Tyr) - pathogenic g.42490329G>T g.41986177G>T - - ATP1A3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 5 c.410C>A r.(?) p.(Ser137Tyr) - pathogenic g.42490329G>T g.41986177G>T - - ATP1A3_000011 - PubMed: Heinzen 2012 - - De novo - - - 0 - Johan den Dunnen
+?/. 5 c.410C>A r.(?) p.(Ser137Tyr) - likely pathogenic g.42490329G>T g.41986177G>T - - ATP1A3_000011 - PubMed: Yang 2014 - - De novo - - - 0 - Gao Hua
+/. 5 c.410C>T r.(?) p.(Ser137Phe) - pathogenic g.42490329G>A g.41986177G>A - - ATP1A3_000025 - PubMed: Heinzen 2012 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 5 c.410C>T r.(?) p.(Ser137Phe) ACMG pathogenic g.42490329G>A g.41986177G>A 449C>T - ATP1A3_000025 - PubMed: Tumienė 2018 - - De novo - - - 0 - Johan den Dunnen
+/. 5 c.419A>T r.(?) p.(Gln140Leu) - pathogenic g.42490320T>A g.41986168T>A - - ATP1A3_000026 - PubMed: Heinzen 2012 - - De novo - - - 0 - Johan den Dunnen
?/. - c.446A>G r.(?) p.(Glu149Gly) - VUS g.42490293T>C g.41986141T>C - - ATP1A3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.467C>T r.(?) p.(Pro156Leu) - likely pathogenic g.42490272G>A - - - ATP1A3_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 7 c.658G>A r.(?) p.(Asp220sn) - pathogenic g.42489524C>T g.41985372C>T - - ATP1A3_000027 - PubMed: Heinzen 2012 - - De novo - - - 0 - Johan den Dunnen
-/. - c.666T>G r.(?) p.(Thr222=) - 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 - - - 0 - VKGL-NL_Groningen
-/. - c.666T>G r.(?) p.(Thr222=) - 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 - - - 0 - VKGL-NL_VUmc
-/. - c.666T>G r.(?) p.(Thr222=) - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - c.666T>G r.(?) p.(Thr222=) - 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 - - - 0 - VKGL-NL_Nijmegen
?/. - c.689G>A r.(?) p.(Arg230Gln) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.816G>A r.(?) p.(Thr272=) - 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 - - - 0 - VKGL-NL_VUmc
-/. - c.816G>A r.(?) p.(Thr272=) - 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 - - - 0 - VKGL-NL_Nijmegen
-?/. - c.816G>A r.(?) p.(Thr272=) - 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 - - - - - VKGL-NL_Utrecht
+/. 8 c.821T>A r.(?) p.(Ile274Asn) - pathogenic g.42489242A>T g.41985090A>T - - ATP1A3_000028 - PubMed: Heinzen 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.821T>A r.(?) p.(Ile274Asn) - pathogenic g.42489242A>T - - - ATP1A3_000028 - Journal: Cordani 2021 - - De novo - - - - - Elisa De Grandis
+/. 8 c.821T>C r.(?) p.(Ile274Thr) - pathogenic g.42489242A>G g.41985090A>G - - ATP1A3_000005 - PubMed: de Carvalho Aguiar 2004, OMIM:var0002 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 8 c.829G>A r.(?) p.(Glu277Lys) - pathogenic g.42489234C>T g.41985082C>T - - ATP1A3_000006 - PubMed: de Carvalho Aguiar 2004, OMIM:var0003 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 8 c.829G>A r.(?) p.(Glu277Lys) - pathogenic g.42489234C>T g.41985082C>T - - ATP1A3_000006 - PubMed: Tarsy 2010, OMIM:var0003 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. - c.884C>T r.(?) p.(Ser295Phe) - VUS g.42489179G>A g.41985027G>A - - ATP1A3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.909C>T r.(?) p.(Leu303=) - likely benign g.42489154G>A - ATP1A3(NM_001256214.1):c.948C>T (p.L316=) - ATP1A3_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.955G>A r.(?) p.(Val319Met) - VUS g.42489108C>T - ATP1A3(NM_152296.5):c.955G>A (p.V319M) - ATP1A3_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
./. - c.964G>A r.(?) p.(Val322Ile) - pathogenic g.42489099C>T g.41984947C>T - - ATP1A3_000046 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
+/. - c.965T>A r.(?) p.(Val322Asp) - pathogenic g.42489098A>T - - - ATP1A3_000144 - Journal: Cordani 2021 - - De novo - - - 0 - Elisa De Grandis
+?/. - c.971A>G r.(?) p.(Glu324Gly) ACMG likely pathogenic (dominant) g.42489092T>C g.41984940T>C - - ATP1A3_000128 - PubMed: Helbig 2016 - - De novo - - - 0 - Johan den Dunnen
+?/. - c.973G>C r.(?) p.(Gly325Arg) - likely pathogenic g.42489090C>G g.41984938C>G - - ATP1A3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.974G>A r.(?) p.(Gly325Asp) - 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 - 0 - Mohammed Faruq
+/. 8 c.979_981del r.(?) p.(Leu327del) - pathogenic g.42489085_42489087del g.41984933_41984935del 979_981delCTG - ATP1A3_000007 - PubMed: Kamm 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. - c.992C>T r.(?) p.(Thr331Ile) - VUS g.42489071G>A g.41984919G>A ATP1A3(NM_152296.4):c.992C>T (p.?) - ATP1A3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.994-20T>G r.(=) p.(=) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.994-20T>G r.(=) p.(=) - 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 - - - 0 - VKGL-NL_Nijmegen
-/. - c.994-20T>G r.(=) p.(=) - 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 - - - - - VKGL-NL_VUmc
-?/. - c.994-20T>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. - c.994-3C>G r.spl? p.? - VUS g.42486261G>C g.41982109G>C ATP1A3(NM_001256214.1):c.1033-3C>G - ATP1A3_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 9 c.998G>T r.(?) p.(Cys333Phe) - pathogenic g.42486254C>A g.41982102C>A - - ATP1A3_000029 - PubMed: Heinzen 2012 - - De novo - - - 0 - Johan den Dunnen
+/. 9 c.998G>T r.(?) p.(Cys333Phe) - pathogenic g.42486254C>A g.41982102C>A - - ATP1A3_000029 - PubMed: Heinzen 2012 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.1005G>A r.(?) p.(Thr335=) - 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 - - - - - VKGL-NL_Rotterdam
+/. - c.1012G>C r.(?) p.(Ala338Pro) - pathogenic g.42486240C>G g.41982088C>G - - ATP1A3_000143 - Journal: Cordani 2021 - - De novo - - - 0 - Elisa De Grandis
-?/. - c.1017G>A r.(?) p.(Lys339=) - likely benign g.42486235C>T - ATP1A3(NM_001256214.1):c.1056G>A (p.K352=) - ATP1A3_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1063_1065del r.(?) p.(Glu355del) - likely pathogenic g.42486188_42486190del g.41982036_41982038del - - ATP1A3_000097 - - - - Germline yes - - 0 - Xiaoxu Yang
+?/. - c.1073G>T r.(?) p.(Gly358Val) - likely pathogenic g.42486179C>A - ATP1A3(NM_001256214.2):c.1112G>T (p.G371V) - ATP1A3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1076C>A r.(?) p.(Ser359Tyr) - 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 - - - - - VKGL-NL_Leiden
+/. 9 c.1109C>A r.(?) p.(Thr370Asn) - pathogenic g.42486143G>T g.41981991G>T g.1109C>A - ATP1A3_000012 - - - - De novo - - - 0 - Yangxiaoling
+?/. 9 c.1109C>A r.(?) p.(Thr370Asn) - likely pathogenic g.42486143G>T g.41981991G>T - - ATP1A3_000012 - PubMed: Yang 2014 - - De novo - - - 0 - Gao Hua
+/. - c.1109C>A r.(?) p.(Thr370Asn) - pathogenic g.42486143G>T - - - ATP1A3_000012 - Journal: Cordani 2021 - - De novo - - - 0 - Elisa De Grandis
-?/. - c.1164C>A r.(?) p.(His388Gln) - likely benign g.42486088G>T - ATP1A3(NM_001256214.1):c.1203C>A (p.H401Q) - ATP1A3_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1164C>T r.(?) p.(His388=) - likely benign g.42486088G>A - ATP1A3(NM_001256214.1):c.1203C>T (p.H401=) - ATP1A3_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1192+6C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1192+6C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Utrecht
-?/. - c.1193-4C>G r.spl? p.? - 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 - - - 0 - VKGL-NL_Groningen
-?/. - c.1193-4C>G r.spl? p.? - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1193-4C>G r.spl? p.? - 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 - - - - - VKGL-NL_Utrecht
-?/. - c.1260C>T r.(?) p.(Arg420=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1303-15C>A r.(=) p.(=) - 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 - - - 0 - VKGL-NL_Groningen
-?/. - c.1323G>A r.(?) p.(Ala441=) - 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 - - - 0 - VKGL-NL_Groningen
-/. - c.1323G>A r.(?) p.(Ala441=) - 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 - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1323G>A r.(?) p.(Ala441=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1323G>A r.(?) p.(Ala441=) - 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 - - - - - VKGL-NL_VUmc
-?/. - c.1323G>A r.(?) p.(Ala441=) - 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 - - - - - VKGL-NL_Leiden
?/. - c.1328_1333del r.(?) p.(Glu443_Ser444del) - VUS g.42485763_42485768del g.41981611_41981616del - - ATP1A3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1387C>T r.(?) p.(Arg463Cys) - VUS g.42485704G>A - ATP1A3(NM_001256214.1):c.1426C>T (p.R476C) - ATP1A3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1387C>T r.(?) p.(Arg463Cys) ACMG likely pathogenic (recessive) g.42485704G>A g.41981552G>A NM_001256214:c.1426C>T - ATP1A3_000134 - PubMed: Hu 2019 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1413C>T r.(?) p.(Pro471=) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.1456G>A r.(?) p.(Glu486Lys) - VUS g.42482932C>T g.41978780C>T - - ATP1A3_000099 - - - - Unknown - - - 0 - IMGAG
?/. - c.1472A>G r.(?) p.(Asn491Ser) - VUS g.42482916T>C - ATP1A3(NM_001256214.1):c.1511A>G (p.N504S) - ATP1A3_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1527C>T r.(?) p.(Ser509=) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1605C>T r.(?) p.(Leu535=) - likely benign g.42482783G>A - ATP1A3(NM_001256214.1):c.1644C>T (p.L548=) - ATP1A3_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1765G>T r.(?) p.(Val589Phe) - pathogenic g.42482344C>A - - - ATP1A3_000142 - Journal: Cordani 2021 - - De novo - - - - - Elisa De Grandis
?/. - c.1774G>A r.(?) p.(Ala592Thr) - VUS g.42482335C>T g.41978183C>T - - ATP1A3_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1787G>A r.(?) p.(Cys596Tyr) - 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 - - - 0 - VKGL-NL_VUmc
?/. - c.1806+1G>A r.spl? p.? - VUS g.42482302C>T g.41978150C>T - - ATP1A3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1822G>A r.(?) p.(Gly608Ser) - VUS g.42482209C>T g.41978057C>T - - ATP1A3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 14 c.1838C>T r.(?) p.(Thr613Met) - pathogenic g.42482193G>A g.41978041G>A - - ATP1A3_000001 - PubMed: de Carvalho Aguiar 2004, OMIM:var0001 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 14 c.1838C>T r.(?) p.(Thr613Met) - pathogenic g.42482193G>A g.41978041G>A - - ATP1A3_000001 - PubMed: de Carvalho Aguiar 2004, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 14 c.1838C>T r.(?) p.(Thr613Met) - pathogenic g.42482193G>A g.41978041G>A - - ATP1A3_000001 - PubMed: Brashear 2007, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1906G>A r.(?) p.(Ala636Thr) - likely benign g.42482125C>T g.41977973C>T ATP1A3(NM_001256214.1):c.1945G>A (p.A649T) - ATP1A3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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