Unique variants in the ATP1A3 gene

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

137 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
-?/. 1 - 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
-?/. 1 - 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
?/. 1 - c.56G>A r.(?) p.(Arg19His) ACMG VUS g.42492665C>T - - - ATP1A3_000131 ACMG grading: BP4,PM2 2y old male - - rs782596240 Germline - - - - - Andreas Laner
?/. 1 - c.128G>A r.(?) p.(Arg43Gln) - VUS g.42492495C>T g.41988343C>T - - ATP1A3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.154-5C>G r.spl? p.? - likely benign g.42492296G>C g.41988144G>C ATP1A3(NM_001256214.2):c.193-5C>G - ATP1A3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - 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
?/. 1 - c.193G>C r.(?) p.(Asp65His) - VUS g.42492252C>G g.41988100C>G - - ATP1A3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.219G>A r.(?) p.(Pro73=) - likely benign g.42492226C>T g.41988074C>T - - ATP1A3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.283T>C r.(?) p.(Trp95Arg) - VUS g.42492162A>G g.41988010A>G - - ATP1A3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.298C>G r.(?) p.(Leu100Val) - pathogenic g.42492147G>C g.41987995G>C - - ATP1A3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 4 - c.357C>T r.(?) p.(Asn119=) - likely benign g.42492088G>A g.41987936G>A 1 more item - ATP1A3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-/., -?/. 2 - c.363C>T r.(?) p.(Tyr121=) - benign, 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, VKGL-NL_Utrecht
+/., +?/. 3 5 c.410C>A r.(?) p.(Ser137Tyr) - likely pathogenic, pathogenic g.42490329G>T g.41986177G>T - - ATP1A3_000011 VKGL data sharing initiative Nederland PubMed: Heinzen 2012, PubMed: Yang 2014 - - CLASSIFICATION record, De novo - - - - - Johan den Dunnen, Gao Hua, VKGL-NL_Nijmegen
+/. 2 5 c.410C>T r.(?) p.(Ser137Phe) ACMG pathogenic g.42490329G>A g.41986177G>A 449C>T - ATP1A3_000025 - PubMed: Heinzen 2012, PubMed: Tumienė 2018 - - De novo, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 5 c.419A>T r.(?) p.(Gln140Leu) - pathogenic g.42490320T>A g.41986168T>A - - ATP1A3_000026 - PubMed: Heinzen 2012 - - De novo - - - - - Johan den Dunnen
?/. 1 - 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
+/. 1 7 c.658G>A r.(?) p.(Asp220sn) - pathogenic g.42489524C>T g.41985372C>T - - ATP1A3_000027 - PubMed: Heinzen 2012 - - De novo - - - - - Johan den Dunnen
-/. 4 - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - 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
-/., -?/. 3 - c.816G>A r.(?) p.(Thr272=) - benign, 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 2 8 c.821T>A r.(?) p.(Ile274Asn) - pathogenic g.42489242A>T g.41985090A>T - - ATP1A3_000028 - Journal: Cordani 2021, PubMed: Heinzen 2012 - - De novo, Germline - - - - - Johan den Dunnen, Elisa De Grandis
+/. 1 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) - - - - - Johan den Dunnen
+/. 2 8 c.829G>A r.(?) p.(Glu277Lys) - pathogenic g.42489234C>T g.41985082C>T - - ATP1A3_000006 - PubMed: de Carvalho Aguiar 2004, OMIM:var0003, PubMed: Tarsy 2010, OMIM:var0003 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - 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
-?/. 1 - 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
?/. 1 - 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
./. 1 - c.964G>A r.(?) p.(Val322Ile) - pathogenic g.42489099C>T g.41984947C>T - - ATP1A3_000046 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.965T>A r.(?) p.(Val322Asp) - pathogenic g.42489098A>T - - - ATP1A3_000144 - Journal: Cordani 2021 - - De novo - - - - - Elisa De Grandis
+?/. 1 - c.971A>G r.(?) p.(Glu324Gly) ACMG likely pathogenic (dominant) g.42489092T>C g.41984940T>C - - ATP1A3_000128 - PubMed: Helbig 2016 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.973G>C r.(?) p.(Gly325Arg) - likely pathogenic g.42489090C>G g.41984938C>G - - ATP1A3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - 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 - - - Mohammed Faruq
+/. 1 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) - - - - - Johan den Dunnen
?/. 1 - 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 - - - - - VKGL-NL_Leiden
-/., -?/. 3 - c.994-20T>G r.(=) p.(=) - benign, likely benign g.42486278A>C g.41982126A>C ATP1A3(NM_152296.5):c.994-20T>G - ATP1A3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - 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
+/. 2 9 c.998G>T r.(?) p.(Cys333Phe) - pathogenic g.42486254C>A g.41982102C>A - - ATP1A3_000029 - PubMed: Heinzen 2012 - - De novo - - - - - Johan den Dunnen
-?/. 1 - 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
+/. 1 - c.1012G>C r.(?) p.(Ala338Pro) - pathogenic g.42486240C>G g.41982088C>G - - ATP1A3_000143 - Journal: Cordani 2021 - - De novo - - - - - Elisa De Grandis
-?/. 1 - 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
+?/. 1 - c.1063_1065del r.(?) p.(Glu355del) - likely pathogenic g.42486188_42486190del g.41982036_41982038del - - ATP1A3_000097 - - - - Germline yes - - - - Xiaoxu Yang
+?/. 1 - 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
+?/. 1 - 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
+/., +?/. 3 9 c.1109C>A r.(?) p.(Thr370Asn) - likely pathogenic, pathogenic g.42486143G>T g.41981991G>T g.1109C>A - ATP1A3_000012 - Journal: Cordani 2021, PubMed: Yang 2014 - - De novo - - - - - Gao Hua, Yangxiaoling, Elisa De Grandis
-?/. 1 - 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
-?/. 1 - 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
-?/. 2 - 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, VKGL-NL_Utrecht
-?/. 3 - 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, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL_Groningen
-/., -?/. 4 - c.1323G>A r.(?) p.(Ala441=) - benign, likely benign g.42485768C>T g.41981616C>T 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, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.1328_1333del r.(?) p.(Glu443_Ser444del) - VUS g.42485763_42485768del g.41981611_41981616del - - ATP1A3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., ?/. 2 - c.1387C>T r.(?) p.(Arg463Cys) ACMG likely pathogenic (recessive), VUS g.42485704G>A g.41981552G>A ATP1A3(NM_001256214.1):c.1426C>T (p.R476C), NM_001256214:c.1426C>T - ATP1A3_000134 VKGL data sharing initiative Nederland PubMed: Hu 2019 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
-?/. 1 - 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
?/. 1 - c.1456G>A r.(?) p.(Glu486Lys) - VUS g.42482932C>T g.41978780C>T - - ATP1A3_000099 - - - - Unknown - - - - - IMGAG
?/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
+/. 1 - c.1765G>T r.(?) p.(Val589Phe) - pathogenic g.42482344C>A - - - ATP1A3_000142 - Journal: Cordani 2021 - - De novo - - - - - Elisa De Grandis
?/. 1 - 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
+/. 1 - 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 - - - - - VKGL-NL_VUmc
?/. 1 - 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
?/. 1 - c.1822G>A r.(?) p.(Gly608Ser) - VUS g.42482209C>T g.41978057C>T - - ATP1A3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 3 14 c.1838C>T r.(?) p.(Thr613Met) - pathogenic g.42482193G>A g.41978041G>A - - ATP1A3_000001 - PubMed: Brashear 2007, OMIM:var0001, PubMed: de Carvalho Aguiar 2004, OMIM:var0001 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 4 - c.1943+12A>T r.(=) p.(=) - likely benign g.42482076T>A g.41977924T>A ATP1A3(NM_001256214.2):c.1982+12A>T, ATP1A3(NM_152296.5):c.1943+12A>T - ATP1A3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.1944-20G>T r.(=) p.(=) - likely benign g.42480738C>A g.41976586C>A ATP1A3(NM_001256214.2):c.1983-20G>T - ATP1A3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2029G>A r.(?) p.(Glu677Lys) - VUS g.42480633C>T g.41976481C>T ATP1A3(NM_001256214.2):c.2068G>A (p.E690K) - ATP1A3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 15 c.2051C>T r.(?) p.(Ser684Phe) - pathogenic g.42480611G>A g.41976459G>A - - ATP1A3_000008 - PubMed: Svetel 2010 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 - c.2095-10C>T r.(=) p.(=) - likely benign g.42479959G>A g.41975807G>A ATP1A3(NM_001256214.1):c.2134-10C>T - ATP1A3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 16 c.2116G>A r.(?) p.(Gly706Arg) - likely pathogenic g.42479928C>T g.41975776C>T - - ATP1A3_000038 - PubMed: Yang 2014 - - De novo - - - - - Gao Hua
?/. 1 - c.2140G>A r.(?) p.(Ala714Thr) - VUS g.42479904C>T g.41975752C>T - - ATP1A3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.2227G>C r.(?) p.(Asp743His) - pathogenic g.42479817C>G - - - ATP1A3_000141 - Journal: Cordani 2021 - - De novo - - - - - Elisa De Grandis
+?/. 1 - c.2232C>A r.(?) p.(Asn744Lys) - likely pathogenic g.42479812G>T g.41975660G>T ATP1A3(NM_001256214.2):c.2271C>A (p.N757K) - ATP1A3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., +?/. 2 16 c.2263G>A r.(?) p.(Gly755Ser) - likely pathogenic, pathogenic g.42479781C>T g.41975629C>T - - ATP1A3_000013 - PubMed: Heinzen 2012, PubMed: Yang 2014 - - De novo, Germline/De novo (untested) - - - - - Johan den Dunnen, Gao Hua
+?/. 1 16 c.2263G>T r.(?) p.(Gly755Cys) - likely pathogenic g.42479781C>A g.41975629C>A - - ATP1A3_000039 - PubMed: Yang 2014 - - De novo - - - - - Gao Hua
-/., -?/. 3 - c.2264-16C>T r.(=) p.(=) - benign, likely benign g.42474710G>A g.41970558G>A ATP1A3(NM_152296.5):c.2264-16C>T - ATP1A3_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 2 - c.2266C>T r.(?) p.(Arg756Cys) - pathogenic g.42474692G>A g.41970540G>A ATP1A3(NM_001256214.2):c.2305C>T (p.R769C) - ATP1A3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/., +?/., ./. 3 - c.2267G>A r.(?) p.(Arg756His) - likely pathogenic, pathogenic g.42474691C>T g.41970539C>T ATP1A3(NM_001256214.2):c.2306G>A (p.R769H) - ATP1A3_000047 VKGL data sharing initiative Nederland PubMed: DDDS 2015, Journal: DDDS 2015 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.2273T>A r.(?) p.(Ile758Asn) - VUS g.42474685A>T g.41970533A>T - - ATP1A3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 17 c.2273T>G r.(?) p.(Ile758Ser) - pathogenic g.42474685A>C g.41970533A>C - - ATP1A3_000002 - PubMed: de Carvalho Aguiar 2004, OMIM:var0004 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - c.2303A>G r.(?) p.(Tyr768Cys) - VUS g.42474655T>C g.41970503T>C - - ATP1A3_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 17 c.2309T>G r.(?) p.(Leu770Arg) - likely pathogenic g.42474649A>C g.41970497A>C - - ATP1A3_000014 - PubMed: Yang 2014 - - Germline - - - - - Gao Hua
+/., +?/. 2 17 c.2312C>A r.(?) p.(Thr771Asn) - likely pathogenic, pathogenic g.42474646G>T g.41970494G>T - - ATP1A3_000015 - PubMed: Yang 2014 - - De novo yes - - - - Gao Hua, Xiaoxu Yang
+?/. 1 17 c.2312C>T r.(?) p.(Thr771Ile) - likely pathogenic g.42474646G>A g.41970494G>A - - ATP1A3_000016 - PubMed: Yang 2014 - - De novo - - - - - Gao Hua
+?/. 1 17 c.2316C>G r.(?) p.(Ser772Arg) - likely pathogenic g.42474642G>C g.41970490G>C - - ATP1A3_000017 - PubMed: Yang 2014 - - De novo - - - - - Gao Hua
+/. 1 17 c.2318A>G r.(?) p.(Asn773Ser) - pathogenic g.42474640T>C g.41970488T>C - - ATP1A3_000030 - PubMed: Heinzen 2012 - - De novo - - - - - Johan den Dunnen
?/. 2 - c.2324C>T r.(?) p.(Pro775Leu) - VUS g.42474634G>A g.41970482G>A ATP1A3(NM_001256214.2):c.2363C>T (p.P788L) - ATP1A3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 17 c.2338T>C r.(?) p.(Phe780Leu) - pathogenic g.42474620A>G g.41970468A>G - - ATP1A3_000003 - PubMed: de Carvalho Aguiar 2004, OMIM:var0005 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/., +?/., ./. 44 17 c.2401G>A r.(?) p.(Asp801Asn) - likely pathogenic, pathogenic g.42474557C>T g.41970405C>T ATP1A3(NM_152296.5):c.2401G>A (p.D801N) - ATP1A3_000018 VKGL data sharing initiative Nederland Journal: Cordani 2021, PubMed: Ganapathy 2019, PubMed: Heinzen 2012, OMIM:var0009, PubMed: Yang 2014 - - CLASSIFICATION record, De novo, Germline, Germline/De novo (untested), Unknown yes - - - - Johan den Dunnen, Gao Hua, IMGAG, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Xiaoxu Yang, Elisa De Grandis
+/. 1 17 c.2401G>T r.(?) p.(Asp801Tyr) - pathogenic g.42474557C>A g.41970405C>A - - ATP1A3_000004 - PubMed: de Carvalho Aguiar 2004, OMIM:var0006 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. 1 - c.2402A>G r.(?) p.(Asp801Gly) - likely pathogenic g.42474556T>C g.41970404T>C - - ATP1A3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.2403T>A r.(?) p.(Asp801Glu) - pathogenic g.42474555A>T g.41970403A>T - - ATP1A3_000095 - - - - De novo yes - - - - Xiaoxu Yang
+?/. 2 17 c.2405T>C r.(?) p.(Leu802Pro) - likely pathogenic g.42474553A>G g.41970401A>G - - ATP1A3_000040 - PubMed: Yang 2014 - - De novo - - - - - Gao Hua
+/., +?/. 2 17 c.2413G>C r.(?) p.(Asp805His) - likely pathogenic, pathogenic g.42474545C>G g.41970393C>G - - ATP1A3_000041 - PubMed: Yang 2014 - - De novo yes - - - - Gao Hua, Xiaoxu Yang
+?/. 1 17 c.2417T>A r.(?) p.(Met806Lys) - likely pathogenic g.42474541A>T g.41970389A>T - - ATP1A3_000019 - PubMed: Yang 2014 - - Germline/De novo (untested) - - - - - Gao Hua
+/. 1 17 c.2417T>G r.(?) p.(Met806Arg) - pathogenic g.42474541A>C g.41970389A>C - - ATP1A3_000031 - PubMed: Heinzen 2012 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 - c.2418+9T>A r.(=) p.(=) - likely benign g.42474531A>T - ATP1A3(NM_001256214.1):c.2457+9T>A - ATP1A3_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2419-6G>A r.(=) p.(=) - likely benign g.42474466C>T - ATP1A3(NM_152296.5):c.2419-6G>A - ATP1A3_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 18 c.2423C>T r.(?) p.(Pro808Leu) - likely pathogenic g.42474456G>A g.41970304G>A - - ATP1A3_000042 - PubMed: Yang 2014 - - De novo - - - - - Gao Hua
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