Full data view for gene ATP8A2

Information The variants shown are described using the NM_016529.4 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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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     
+/. 25i c.? r.? p.? Unknown - pathogenic g.26333634_qterdelins[NC_000010.10:pter_28806017inv] - chr13:25231633/chr10:28846023 46,XX,t(10;13)(p12.1;q12.13)dn ATP8A2_000022 - PubMed: Cacciagli 2010 - - De novo - - - - - DNA SEQ - - ? patient PubMed: Cacciagli 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - France - - - - - 1 Johan den Dunnen
+/. 25i c.? r.? p.? Unknown - pathogenic g.[NC_000010.10:pter_28806017]delins26333634_qterinv - chr13:25231633/chr10:28846023 46,XX,t(10;13)(p12.1;q12.13)dn ATP8A2_000022 - PubMed: Cacciagli 2010 - - DUPLICATE record - - - - - DNA SEQ - - ? patient PubMed: Cacciagli 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - France - - - - - 1 Johan den Dunnen
?/. - c.68C>G r.(?) p.(Ser23Trp) Unknown - VUS g.25946418C>G - ATP8A2(NM_016529.5):c.68C>G (p.S23W) - ATP8A2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.76+10G>A r.(=) p.(=) Unknown - likely benign g.25946436G>A g.25372298G>A ATP8A2(NM_016529.5):c.76+10G>A - ATP8A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207C>T r.(?) p.(Arg69=) Unknown - likely benign g.26043245C>T g.25469107C>T ATP8A2(NM_016529.5):c.207C>T (p.R69=) - ATP8A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213C>T r.(?) p.(Asn71=) Unknown - likely benign g.26043251C>T - ATP8A2(NM_016529.5):c.213C>T (p.N71=) - ATP8A2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i c.321+3_321+8del r.spl? p.? Parent #2 - likely pathogenic (recessive) g.26104239_26104244del g.25530101_25530106del 321+3_321+8delAATGGT - ATP8A2_000014 - PubMed: McMillan 2018 - - Germline - - - - - DNA SEQ-NG - WES CAMRQ Pat2 PubMed: McMillan 2018 - F - United States - - - - - 1 Johan den Dunnen
+?/. - c.322-1G>T r.spl p.? Both (homozygous) ACMG likely pathogenic (recessive) g.26104699G>T g.25530561G>T - - ATP8A2_000041 ACMG PVS1,PM2 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - clinical WES ID 17DG0764 PubMed: Anazi 2017 familial F - - - - - - - 1 Johan den Dunnen
?/. - c.338C>T r.(?) p.(Ser113Phe) Unknown - VUS g.26104716C>T g.25530578C>T - - ATP8A2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.560A>G r.(?) p.(Asp187Gly) Unknown - VUS g.26112178A>G g.25538040A>G - - ATP8A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647G>A r.(?) p.(Arg216His) Unknown - VUS g.26114522G>A g.25540384G>A - - ATP8A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.998C>T r.(?) p.(Ala333Val) Unknown - likely benign g.26125582C>T - ATP8A2(NM_016529.5):c.998C>T (p.A333V) - ATP8A2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1110C>A r.(?) p.(Tyr370*) Unknown - likely pathogenic (dominant) g.26127983C>A g.25553845C>A - - ATP8A2_000043 - PubMed: Zhu 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio40 PubMed: Zhu 2015 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.1128C>G r.(?) p.(Ile376Met) Both (homozygous) - pathogenic (recessive) g.26128001C>G g.25553863C>G - - ATP8A2_000007 - PubMed: Onat 2013 - - Germline yes - - - - DNA SEQ - - ? - PubMed: Onat 2013 3-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.1185+5G>A r.spl? p.? Parent #1 - pathogenic (recessive) g.26128063G>A g.25553925G>A - - ATP8A2_000011 - PubMed: McMillan 2018 - - Germline - - - - - DNA SEQ-NG - WES CAMRQ Pat1 PubMed: McMillan 2018 - F - Canada;Algeria - - - - - 1 Johan den Dunnen
+/. - c.1286A>T r.(?) p.(Lys429Met) Both (homozygous) - pathogenic (recessive) g.26133133A>T g.25558995A>T - - ATP8A2_000016 - PubMed: McMillan 2018 - - Germline - - - - - DNA SEQ-NG - WES CAMRQ Pat5 PubMed: McMillan 2018 - M yes Sri Lanka - - - - - 1 Johan den Dunnen
+/. - c.1287G>T r.(?) p.(Lys429Asn) Both (homozygous) - pathogenic (recessive) g.26133134G>T g.25558996G>T - - ATP8A2_000019 - PubMed: McMillan 2018 - - Germline - - - - - DNA SEQ - - CAMRQ Pat10 PubMed: McMillan 2018 - F yes Spain - - - - - 1 Johan den Dunnen
+/. - c.1287G>T r.(?) p.(Lys429Asn) Both (homozygous) - pathogenic (recessive) g.26133134G>T g.25558996G>T - - ATP8A2_000019 - PubMed: Martín-Hernández 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam1Pat1 PubMed: Martín-Hernández 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Spain - - - - - 1 Johan den Dunnen
+?/. 14 c.1312A>G r.(?) p.(Met438Val) Both (homozygous) - pathogenic (recessive) g.26133159A>G g.25559021A>G - - ATP8A2_000035 - PubMed: Heidari 2021, Journal: Heidari 2021 - - Germline yes - - - - DNA SEQ-NG-I - - CAMRQ4 PatA3 PubMed: Heidari 2021, Journal: Heidari 2021 2-generation family, 1 affected, unaffected parents M yes Iran - 02y - - - 1 Ehsan Jafarinia
-/. - c.1380G>A r.(?) p.(Pro460=) Unknown - benign g.26133886G>A g.25559748G>A ATP8A2(NM_016529.5):c.1380G>A (p.P460=) - ATP8A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16i_18i c.(1473+1_1474-1)_(1662+1_1663-1)del r.? p.? Both (homozygous) - pathogenic (recessive) g.(26138170_26144904)_(26145831_26148945)del - del ex17-18 - ATP8A2_000017 - PubMed: McMillan 2018 - - Germline - - - - - DNA SEQ - - CAMRQ Pat6 PubMed: McMillan 2018 - F yes Iran - - - - - 1 Johan den Dunnen
+/. 16i_18i c.(1473+1_1474-1)_(1662+1_1663-1)del r.? p.? Both (homozygous) - pathogenic (recessive) g.(26138170_26144904)_(26145831_26148945)del - - - ATP8A2_000017 - PubMed: McMillan 2018 - - Germline - - - - - DNA SEQ - - CAMRQ Pat7 PubMed: McMillan 2018 - M yes Iran - - - - - 1 Johan den Dunnen
?/. - c.1526C>T r.(?) p.(Thr509Met) Unknown - VUS g.26144957C>T - ATP8A2(NM_016529.5):c.1526C>T (p.T509M) - ATP8A2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1560C>T r.(?) p.(Ile520=) Unknown - likely benign g.26144991C>T g.25570853C>T ATP8A2(NM_016529.5):c.1560C>T (p.I520=), ATP8A2(NM_016529.6):c.1560C>T (p.I520=) - ATP8A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1560C>T r.(?) p.(Ile520=) Unknown - likely benign g.26144991C>T - ATP8A2(NM_016529.5):c.1560C>T (p.I520=), ATP8A2(NM_016529.6):c.1560C>T (p.I520=) - ATP8A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1630G>C r.(?) p.(Ala544Pro) Parent #1 - pathogenic (recessive) g.26145798G>C g.25571660G>C - - ATP8A2_000020 - PubMed: McMillan 2018 - - Germline - - - - - DNA SEQ - - CAMRQ Pat11 PubMed: McMillan 2018 - F - Argentina;Spain - - - - - 1 Johan den Dunnen
+/. - c.1630G>C r.(?) p.(Ala544Pro) Maternal (inferred) - pathogenic (recessive) g.26145798G>C g.25571660G>C - - ATP8A2_000020 - PubMed: Martín-Hernández 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Fam2Pat2 PubMed: Martín-Hernández 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Spain - - - - - 1 Johan den Dunnen
-?/. - c.1662+12_1662+23del r.(=) p.(=) Unknown - likely benign g.26145842_26145853del - ATP8A2(NM_016529.5):c.1662+12_1662+23delGCGTGTGCACAT - ATP8A2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1704A>G r.(?) p.(Glu568=) Unknown - likely benign g.26148987A>G - ATP8A2(NM_016529.5):c.1704A>G (p.E568=) - ATP8A2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 19 c.1711A>G r.(?) p.(Ser571Gly) Parent #1 - VUS g.26148994A>G g.25574856A>G - - ATP8A2_000045 - PubMed: Ganapathy 2019 - rs555217046 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3679 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.1741C>T r.(?) p.(Arg581*) Both (homozygous) - pathogenic (recessive) g.26151235C>T g.25577097C>T - - ATP8A2_000008 - PubMed: Alsahli 2018 - - Germline yes - - - - DNA SEQ - WES CAMRQ Family 1 PubMed: Alsahli 2018 4-generation family, 4 affected siblings (F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 4 Johan den Dunnen
+?/. - c.1756C>T r.(?) p.(Arg586Ter) Unknown - likely pathogenic g.26151250C>T g.25577112C>T - - ATP8A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1756C>T r.(?) p.(Arg586*) Both (homozygous) - pathogenic (recessive) g.26151250C>T g.25577112C>T - - ATP8A2_000005 - PubMed: McMillan 2018 - - Germline - - - - - DNA SEQ - - CAMRQ Pat3 PubMed: McMillan 2018 - F yes Turkey - - - - - 1 Johan den Dunnen
-/. - c.1782+9C>T r.(=) p.(=) Unknown - benign g.26151285C>T g.25577147C>T ATP8A2(NM_016529.5):c.1782+9C>T - ATP8A2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1787del r.(?) p.(Asn596Metfs*2) Parent #1 - pathogenic (recessive) g.26152957del g.25578819del 1787delA - ATP8A2_000013 - PubMed: McMillan 2018 - - Germline - - - - - DNA SEQ-NG - WES CAMRQ Pat2 PubMed: McMillan 2018 - F - United States - - - - - 1 Johan den Dunnen
+?/. - c.1868-2A>G r.spl p.? Both (homozygous) - pathogenic g.26153944A>G g.25579806A>G - - ATP8A2_000037 - PubMed: Heidari 2021, Journal: Heidari 2021 - - Germline yes - - - - DNA SEQ-NG-I - - CAMRQ4 PatA1 PubMed: Heidari 2021, Journal: Heidari 2021 2-generation family, 1 affected, unaffected parents M yes Iran - 09y - - - 1 Ehsan Jafarinia
+/. - c.1873C>T r.(?) p.(Arg625Trp) Parent #2 - pathogenic (recessive) g.26153951C>T g.25579813C>T - - ATP8A2_000021 - PubMed: McMillan 2018 - - Germline - - - - - DNA SEQ - - CAMRQ Pat11 PubMed: McMillan 2018 - F - Argentina;Spain - - - - - 1 Johan den Dunnen
+/. - c.1873C>T r.(?) p.(Arg625Trp) Paternal (confirmed) - pathogenic (recessive) g.26153951C>T g.25579813C>T - - ATP8A2_000021 - PubMed: Martín-Hernández 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam2Pat2 PubMed: Martín-Hernández 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Spain - - - - - 1 Johan den Dunnen
-?/. - c.2007+7G>A r.(=) p.(=) Unknown - likely benign g.26154092G>A - ATP8A2(NM_016529.5):c.2007+7G>A - ATP8A2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2104T>C r.(?) p.(Trp702Arg) Both (homozygous) - pathogenic (recessive) g.26156053T>C g.25581915T>C - - ATP8A2_000015 - PubMed: McMillan 2018 - - Germline - - - - - DNA SEQ - - CAMRQ Pat4 PubMed: McMillan 2018 - F yes Morocco - - - - - 1 Johan den Dunnen
?/. - c.2138T>C r.(?) p.(Ile713Thr) Unknown - VUS g.26156087T>C g.25581949T>C ATP8A2(NM_016529.5):c.2138T>C (p.I713T) - ATP8A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2138T>C r.(?) p.(Ile713Thr) Unknown - VUS g.26156087T>C g.25581949T>C ATP8A2(NM_016529.5):c.2138T>C (p.I713T) - ATP8A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2212-9T>C r.(=) p.(=) Unknown - likely benign g.26273302T>C - ATP8A2(NM_016529.5):c.2212-9T>C - ATP8A2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2212-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.26273310G>C g.25699172G>C - - ATP8A2_000009 - PubMed: Alsahli 2018 - - Germline yes - - - - DNA SEQ - WGS CAMRQ Family 2 PubMed: Alsahli 2018 4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 4 Johan den Dunnen
+?/. - c.2212-1G>C r.spl p.? Both (homozygous) ACMG likely pathogenic (recessive) g.26273310G>C g.25699172G>C - - ATP8A2_000009 ACMG PVS1, PM2 PubMed: Maddirevula 2019 - - Germline - - - - - DNA SEQ-NG - WES ? 17-3865 PubMed: Maddirevula 2019 - M yes Jordan - - - - - 1 Johan den Dunnen
+?/. 24i_33i c.(2211+1_2212-1)_(3183+1_3184-1)del r.? p.? Both (homozygous) - likely pathogenic g.(?_26273311)_(26436546_?)del - chr13:26273311-?_26436546+?del - ATP8A2_000046 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3831 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.2333G>A r.(?) p.(Arg778Gln) Both (homozygous) - likely benign g.26273432G>A - - - ATP8A2_000052 - PubMed: Oud 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM PatGL-13 PubMed: Oud 2020 - M - Lebanon - - - - - 1 Johan den Dunnen
?/. 26 c.2431C>T r.(?) p.(Arg811Trp) Parent #2 - VUS g.26343230C>T g.25769092C>T - - ATP8A2_000047 - - - rs560280973 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3679 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.2466C>T r.(?) p.(Gly822=) Unknown - likely benign g.26343265C>T g.25769127C>T ATP8A2(NM_016529.5):c.2466C>T (p.G822=) - ATP8A2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 26 c.2473G>C r.(?) p.(Asp825His) Both (homozygous) - pathogenic g.26343272G>C g.25769134G>C - - ATP8A2_000036 - PubMed: Heidari 2021, Journal: Heidari 2021 - - Germline yes - - - - DNA SEQ-NG-I - - CAMRQ4 PatA2 PubMed: Heidari 2021, Journal: Heidari 2021 2-generation family, 1 affected, unaffected parents M yes Iran - 07y - - - 1 Ehsan Jafarinia
-/. - c.2559C>T r.(?) p.(Ala853=) Unknown - benign g.26343358C>T g.25769220C>T ATP8A2(NM_016529.5):c.2559C>T (p.A853=) - ATP8A2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2600A>C r.(?) p.(His867Pro) Both (homozygous) ACMG likely pathogenic (recessive) g.26349018A>C g.25774880A>C - - ATP8A2_000042 ACMG PM1,PM2, PP3,PP1 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID 15DG2032 PubMed: Anazi 2017 familial M - - - - - - - 1 Johan den Dunnen
+/. 27i_33i c.(2679+1_2680-1)_(3183+1_3184-1)del r.? p.? Parent #2 - pathogenic (recessive) g.(26349098_26402255)_(26436547_26535712)del - del ex28–33 - ATP8A2_000012 - PubMed: McMillan 2018 - - Germline - - - - - DNA SEQ-NG - WES CAMRQ Pat1 PubMed: McMillan 2018 - F - Canada;Algeria - - - - - 1 Johan den Dunnen
+/. - c.2749A>G r.(?) p.(Asn917Asp) Both (homozygous) - pathogenic (recessive) g.26402325A>G g.25828187A>G - - ATP8A2_000010 - PubMed: Alsahli 2018 - - Germline yes - - - - DNA SEQ - - CAMRQ Family 3 PubMed: Alsahli 2018 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - - - - 2 Johan den Dunnen
?/. - c.2957-1G>A r.spl? p.? Unknown - VUS g.26434332G>A g.25860194G>A ATP8A2(NM_016529.6):c.2957-1G>A - ATP8A2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 31i c.3019-1G>A r.spl p.? Both (homozygous) - likely pathogenic g.26434941G>A g.25860803G>A - - ATP8A2_000048 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3386 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.3075A>G r.(?) p.(Lys1025=) Unknown - likely benign g.26434998A>G - ATP8A2(NM_016529.5):c.3075A>G (p.K1025=) - ATP8A2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3136T>C r.(?) p.(Ser1046Pro) Unknown - VUS g.26436499T>C g.25862361T>C ATP8A2(NM_016529.4):c.3136T>C (p.(Ser1046Pro)) - ATP8A2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3188_3196delinsGAAGAAG r.(?) p.(Thr1063Argfs*22) Both (homozygous) - pathogenic (recessive) g.26535717_26535725delinsGAAGAAG g.25961579_25961587delinsGAAGAAG 3188_3196delCTATGGTCCinsGAAGAAG - ATP8A2_000018 - PubMed: McMillan 2018 - - Germline - - - - - DNA SEQ - - CAMRQ Pat8 PubMed: McMillan 2018 - M - Lebanon - - - - - 1 Johan den Dunnen
+/. - c.3188_3196delinsGAAGAAG r.(?) p.(Thr1063Argfs*22) Both (homozygous) - pathogenic (recessive) g.26535717_26535725delinsGAAGAAG g.25961579_25961587delinsGAAGAAG 3188_3196delCTATGGTCCinsGAAGAAG - ATP8A2_000018 - PubMed: McMillan 2018 - - Germline - - - - - DNA SEQ - - CAMRQ Pat9 PubMed: McMillan 2018 - F - Lebanon - - - - - 1 Johan den Dunnen
-?/. - c.3205G>A r.(?) p.(Ala1069Thr) Unknown - likely benign g.26535734G>A g.25961596G>A ATP8A2(NM_016529.6):c.3205G>A (p.A1069T) - ATP8A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3207A>G r.(?) p.(Ala1069=) Unknown - likely benign g.26535736A>G g.25961598A>G ATP8A2(NM_016529.5):c.3207A>G (p.A1069=) - ATP8A2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3272+1del r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.26535802del g.25961664del - - ATP8A2_000055 - PubMed: Al-Kasbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID 61BN1100 PubMed: Al-Kasbi 2022 patient, other affecteds in family F - Oman - - - - - 1 Johan den Dunnen
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