Unique variants in the ATP2B3 gene

Information The variants shown are described using the NM_021949.3 transcript reference sequence.

109 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.-90900_*764445dup r.0? p.0? - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.83G>C r.(?) p.(Gly28Ala) - VUS g.152801788G>C - ATP2B3(NM_021949.4):c.83G>C (p.G28A) - ATP2B3_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.172G>A r.(?) p.(Gly58Arg) - VUS g.152801877G>A - - - ATP2B3_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.214G>A r.(?) p.(Ala72Thr) - likely benign g.152806822G>A g.153541364G>A ATP2B3(NM_021949.3):c.214G>A (p.A72T) - ATP2B3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.324C>T r.(?) p.(Asp108=) - likely benign g.152806932C>T g.153541474C>T ATP2B3(NM_021949.3):c.324C>T (p.D108=) - ATP2B3_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.384G>A r.(?) p.(Ala128=) - likely benign g.152806992G>A g.153541534G>A ATP2B3(NM_021949.3):c.384G>A (p.A128=) - ATP2B3_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.387G>A r.(?) p.(Pro129=) - likely benign g.152806995G>A g.153541537G>A ATP2B3(NM_021949.3):c.387G>A (p.P129=) - ATP2B3_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.406+20G>A r.(=) p.(=) - benign g.152807034G>A g.153541576G>A ATP2B3(NM_021949.3):c.406+20G>A - ATP2B3_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.407-6G>A r.(=) p.(=) - benign g.152807121G>A g.153541663G>A ATP2B3(NM_021949.3):c.407-6G>A - ATP2B3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.430G>A r.(?) p.(Ala144Thr) - likely benign g.152807150G>A g.153541692G>A ATP2B3(NM_021949.3):c.430G>A (p.A144T) - ATP2B3_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.588G>A r.(?) p.(=), p.(Thr196=) - likely benign, VUS g.152807308G>A g.153541850G>A ATP2B3(NM_021949.3):c.588G>A (p.T196=), T196T - ATP2B3_000123 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
-?/. 1 - c.630G>A r.(?) p.(Ala210=) - likely benign g.152807350G>A g.153541892G>A ATP2B3(NM_021949.3):c.630G>A (p.A210=) - ATP2B3_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.657C>A r.(?) p.(Val219=) - VUS g.152807377C>A - ATP2B3(NM_021949.3):c.657C>A (p.V219=) - ATP2B3_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.664+41G>A r.(=) p.(=) - VUS g.152807425G>A g.153541967G>A - - ATP2B3_000024 - - - - Germline - - - - - Yu Sun
?/. 2 - c.664+120_664+122del r.(=) p.(=) - VUS g.152807504_152807506del g.153542046_153542048del - - ATP2B3_000075 - - - - Germline - - - - - Yu Sun
?/. 2 - c.664+121_664+123del r.(=) p.(=) - VUS g.152807505_152807507del g.153542047_153542049del - - ATP2B3_000026 - - - - Germline - - - - - Yu Sun
?/. 2 - c.665-155del r.(=) p.(=) - VUS g.152807626del g.153542168del - - ATP2B3_000077 - - - - Germline - - - - - Yu Sun
?/. 2 - c.665-149del r.(=) p.(=) - VUS g.152807632del g.153542174del - - ATP2B3_000001 - - - - Germline - - - - - Yu Sun
?/. 2 - c.665-116A>G r.(=) p.(=) - VUS g.152807665A>G g.153542207A>G - - ATP2B3_000002 - - - - Germline - - - - - Yu Sun
-?/., ?/. 3 - c.694A>C r.(?) p.(Ile232Leu) - likely benign, VUS g.152807810A>C g.153542352A>C 1 more item - ATP2B3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.720C>T r.(?) p.(Asp240=) - likely benign g.152807836C>T g.153542378C>T ATP2B3(NM_021949.3):c.720C>T (p.D240=) - ATP2B3_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.781C>G r.(?) p.(Leu261Val) - VUS g.152807897C>G g.153542439C>G ATP2B3(NM_021949.3):c.781C>G (p.L261V) - ATP2B3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 4 - c.790+17G>C r.(=) p.(=) - benign, VUS g.152807923G>C g.153542465G>C ATP2B3(NM_021949.3):c.790+17G>C, ATP2B3(NM_021949.4):c.790+17G>C - ATP2B3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 2 - c.790+214G>A r.(=) p.(=) - VUS g.152808120G>A g.153542662G>A - - ATP2B3_000004 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.886G>A r.(?) p.(Gly296Arg) - likely benign g.152808596G>A g.153543138G>A ATP2B3(NM_021949.3):c.886G>A (p.G296R) - ATP2B3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1014G>A r.(?) p.(=) - VUS g.152813348G>A g.153547890G>A E338E - ATP2B3_000124 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1053C>G r.(?) p.(Asn351Lys) - likely benign g.152813387C>G - ATP2B3(NM_021949.3):c.1053C>G (p.N351K) - ATP2B3_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1090C>A r.(?) p.(Leu364Ile) - VUS g.152813424C>A g.153547966C>A - - ATP2B3_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1099C>T r.(?) p.(Leu367=) - likely benign g.152813433C>T g.153547975C>T ATP2B3(NM_021949.3):c.1099C>T (p.L367=) - ATP2B3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1146C>T r.(?) p.(Thr382=) - likely benign g.152814120C>T g.153548662C>T ATP2B3(NM_021949.3):c.1146C>T (p.T382=) - ATP2B3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1233A>G r.(?) p.(Val411=) - likely benign g.152814207A>G g.153548749A>G ATP2B3(NM_021949.3):c.1233A>G (p.V411=) - ATP2B3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 5 - c.1473A>G r.(?) p.(=), p.(Gly491=) - benign, VUS g.152815089A>G g.153549631A>G ATP2B3(NM_021949.3):c.1473A>G (p.G491=), ATP2B3(NM_021949.4):c.1473A>G (p.G491=), G491G - ATP2B3_000005 recurrent, found 116 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 116/208 cases - - - Yu Sun, Lucy Raymond, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.1571C>G r.(?) p.(Thr524Ser) - likely benign g.152815187C>G g.153549729C>G ATP2B3(NM_021949.3):c.1571C>G (p.T524S) - ATP2B3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1581+3G>A r.spl? p.? - likely benign g.152815200G>A g.153549742G>A ATP2B3(NM_001001344.2):c.1581+3G>A (p.?) - ATP2B3_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1681G>A r.(?) p.(Val561Met) - likely benign g.152815602G>A g.153550144G>A ATP2B3(NM_021949.3):c.1681G>A (p.V561M) - ATP2B3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1686C>G r.(?) p.(=) - VUS g.152815607C>G g.153550149C>G R562R - ATP2B3_000125 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.1687G>A r.(?) p.(Glu563Lys) - VUS g.152815608G>A g.153550150G>A E563K - ATP2B3_000126 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 2 - c.1763G>A r.(?) p.(Arg588His) - likely benign g.152815684G>A g.153550226G>A ATP2B3(NM_001001344.2):c.1763G>A (p.(Arg588His)), ATP2B3(NM_021949.3):c.1763G>A (p.R588H) - ATP2B3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 2 - c.1823+142C>T r.(=) p.(=) - VUS g.152815886C>T g.153550428C>T - - ATP2B3_000006 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1823+359T>C r.(=) p.(=) - VUS g.152816103T>C g.153550645T>C - - ATP2B3_000007 - - - - Germline - - - - - Yu Sun
?/. 2 - c.1824-58G>A r.(=) p.(=) - VUS g.152818435G>A g.153552977G>A - - ATP2B3_000008 - - - - Germline - - - - - Yu Sun
-?/. 2 - c.1852G>A r.(?) p.(Glu618Lys) - likely benign g.152818521G>A g.153553063G>A ATP2B3(NM_001001344.2):c.1852G>A (p.(Glu618Lys)), ATP2B3(NM_021949.3):c.1852G>A (p.E618K) - ATP2B3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.1859G>A r.(?) p.(Arg620Gln) - VUS g.152818528G>A g.153553070G>A ATP2B3(NM_021949.3):c.1859G>A (p.R620Q) - ATP2B3_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1921G>A r.(?) p.(Asp641Asn) - likely benign, VUS g.152818590G>A g.153553132G>A ATP2B3(NM_021949.3):c.1921G>A (p.D641N) - ATP2B3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Karine Poirier, VKGL-NL_Rotterdam
?/. 1 - c.1930C>T r.(?) p.(Arg644Cys) - VUS g.152818599C>T g.153553141C>T ATP2B3(NM_021949.3):c.1930C>T (p.R644C) - ATP2B3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1944C>T r.(?) p.(Ile648=) - likely benign g.152818613C>T - ATP2B3(NM_021949.3):c.1944C>T (p.I648=) - ATP2B3_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1945G>A r.(?) p.(Ala649Thr) - VUS g.152818614G>A - ATP2B3(NM_021949.3):c.1945G>A (p.A649T) - ATP2B3_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1967G>A r.(?) p.(Gly656Asp) - likely benign g.152818636G>A g.153553178G>A ATP2B3(NM_021949.3):c.1967G>A (p.G656D) - ATP2B3_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2029G>A r.(?) p.(Val677Met) - VUS g.152818698G>A - ATP2B3(NM_021949.3):c.2029G>A (p.V677M) - ATP2B3_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.2058+163G>T r.(=) p.(=) - VUS g.152818890G>T g.153553432G>T - - ATP2B3_000009 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.2075G>A r.(?) p.(Arg692Gln) - likely benign g.152821523G>A g.153556065G>A ATP2B3(NM_021949.3):c.2075G>A (p.R692Q) - ATP2B3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2158G>A r.(?) p.(Gly720Ser) - VUS g.152821606G>A - ATP2B3(NM_021949.3):c.2158G>A (p.G720S) - ATP2B3_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2211C>T r.(?) p.(Asn737=) - likely benign g.152821659C>T - ATP2B3(NM_021949.3):c.2211C>T (p.N737=) - ATP2B3_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2222G>A r.(?) p.(Arg741His) - VUS g.152821670G>A g.153556212G>A ATP2B3(NM_021949.3):c.2222G>A (p.R741H) - ATP2B3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 4 - c.2326+11C>T r.(=) p.(=) - benign, VUS g.152821887C>T g.153556429C>T ATP2B3(NM_021949.3):c.2326+11C>T, ATP2B3(NM_021949.4):c.2326+11C>T - ATP2B3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 1 - c.2326+20C>T r.(=) p.(=) - benign g.152821896C>T g.153556438C>T ATP2B3(NM_021949.3):c.2326+20C>T - ATP2B3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2434-229_2434-228insGCC r.(=) p.(=) - VUS g.152823341_152823342insGCC g.153557883_153557884insGCC - - ATP2B3_000081 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.2434-7C>T r.(=) p.(=) - likely benign g.152823563C>T g.153558105C>T ATP2B3(NM_021949.3):c.2434-7C>T - ATP2B3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2505C>T r.(?) p.(Ile835=) - likely benign g.152823641C>T g.153558183C>T ATP2B3(NM_021949.3):c.2505C>T (p.I835=) - ATP2B3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2519T>C r.(?) p.(Met840Thr) - VUS g.152823655T>C g.153558197T>C ATP2B3(NM_021949.3):c.2519T>C (p.M840T) - ATP2B3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 5 - c.2592G>C r.(?) p.(=), p.(Val864=) - benign, VUS g.152823728G>C g.153558270G>C ATP2B3(NM_021949.3):c.2592G>C (p.V864=), ATP2B3(NM_021949.4):c.2592G>C (p.V864=), V864V - ATP2B3_000011 recurrent, found 111 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 111/208 cases - - - Yu Sun, Lucy Raymond, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.2738C>T r.(?) p.(Pro913Leu) - VUS g.152825299C>T g.153559841C>T - - ATP2B3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2767C>T r.(?) p.(Arg923Cys) - VUS g.152825328C>T g.153559870C>T ATP2B3(NM_021949.3):c.2767C>T (p.R923C) - ATP2B3_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2812G>A r.(?) p.(Ala938Thr) - likely benign g.152825373G>A - ATP2B3(NM_021949.3):c.2812G>A (p.A938T) - ATP2B3_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 4 - c.2839+14G>T r.(=) p.(=) - benign, VUS g.152825414G>T g.153559956G>T ATP2B3(NM_021949.3):c.2839+14G>T, ATP2B3(NM_021949.4):c.2839+14G>T - ATP2B3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 2 - c.2839+33A>G r.(=) p.(=) - VUS g.152825433A>G g.153559975A>G - - ATP2B3_000013 - - - - Germline - - - - - Yu Sun
?/. 2 - c.2839+233G>C r.(=) p.(=) - VUS g.152825633G>C g.153560175G>C - - ATP2B3_000014 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.2925G>A r.(?) p.(Thr975=) - likely benign g.152826219G>A - ATP2B3(NM_021949.3):c.2925G>A (p.T975=) - ATP2B3_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.2960C>T r.(?) p.(Ala987Val) - VUS g.152826254C>T g.153560796C>T ATP2B3(NM_001001344.3):c.2960C>T (p.A987V), ATP2B3(NM_021949.3):c.2960C>T (p.A987V) - ATP2B3_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.2973C>T r.(?) p.(His991=) - likely benign g.152826267C>T g.153560809C>T ATP2B3(NM_021949.3):c.2973C>T (p.H991=) - ATP2B3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.3052-148A>G r.(=) p.(=) - VUS g.152827445A>G g.153561987A>G - - ATP2B3_000015 - - - - Germline - - - - - Yu Sun
-/. 2 - c.3052-5C>T r.spl? p.? - benign g.152827588C>T g.153562130C>T ATP2B3(NM_021949.3):c.3052-5C>T, ATP2B3(NM_021949.4):c.3052-5C>T - ATP2B3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.3073G>A r.(?) p.(Gly1025Arg) - VUS g.152827614G>A g.153562156G>A - - ATP2B3_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.3129T>C r.(?) p.(Phe1043=) - likely benign g.152827670T>C g.153562212T>C ATP2B3(NM_021949.3):c.3129T>C (p.F1043=) - ATP2B3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3137T>C r.(?) p.(Val1046Ala) - VUS g.152827678T>C - ATP2B3(NM_001001344.3):c.3137T>C (p.V1046A) - ATP2B3_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.3155G>A r.(?) p.(Gly1052Glu) - VUS g.152827696G>A g.153562238G>A ATP2B3(NM_021949.3):c.3155G>A (p.G1052E) - ATP2B3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.3160-57A>G r.(=) p.(=) - VUS g.152830322A>G g.153564864A>G - - ATP2B3_000016 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.3162C>A r.(?) p.(Val1054=) - likely benign g.152830381C>A g.153564923C>A ATP2B3(NM_021949.3):c.3162C>A (p.V1054=) - ATP2B3_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3180C>T r.(?) p.(Thr1060=) - likely benign g.152830399C>T g.153564941C>T ATP2B3(NM_021949.3):c.3180C>T (p.T1060=) - ATP2B3_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3276T>C r.(?) p.(His1092=) - benign g.152830495T>C g.153565037T>C ATP2B3(NM_021949.3):c.3276T>C (p.H1092=) - ATP2B3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3316C>T r.(?) p.(Arg1106Trp) - VUS g.152830535C>T g.153565077C>T ATP2B3(NM_001001344.2):c.3316C>T (p.(Arg1106Trp)) - ATP2B3_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/., ?/. 2 - c.3338C>T r.(?) p.(Thr1113Met) ACMG likely pathogenic (recessive), VUS g.152830557C>T g.153565099C>T ATP2B3(NM_021949.3):c.3338C>T (p.T1113M) - ATP2B3_000112 VKGL data sharing initiative Nederland PubMed: Helbig 2016 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
?/. 2 - c.3342+123C>T r.(=) p.(=) - VUS g.152830684C>T g.153565226C>T - - ATP2B3_000017 - - - - Germline - - - - - Yu Sun
?/. 2 - c.3343-170G>C r.(=) p.(=) - VUS g.152834891G>C g.153569433G>C - - ATP2B3_000018 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.3351A>G r.(?) p.(Val1117=) - likely benign g.152835069A>G - ATP2B3(NM_021949.3):c.3351A>G (p.V1117=) - ATP2B3_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3367A>C r.(?) p.(Arg1123=) - likely benign g.152835085A>C g.153569627A>C ATP2B3(NM_021949.3):c.3367A>C (p.R1123=) - ATP2B3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3395G>A r.(?) p.(Arg1132His) - likely benign g.152835113G>A g.153569655G>A ATP2B3(NM_021949.3):c.3395G>A (p.R1132H) - ATP2B3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3406T>C r.(?) p.(Ser1136Pro) - VUS g.152835124T>C - - - ATP2B3_000153 - PubMed: Rech 2020 - - De novo ? - - - - Benjamin Billiet
-?/. 1 - c.3426T>G r.(?) p.(His1142Gln) - likely benign g.152835144T>G g.153569686T>G ATP2B3(NM_021949.3):c.3426T>G (p.H1142Q) - ATP2B3_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3429C>T r.(?) p.(Asp1143=) - likely benign g.152835147C>T g.153569689C>T ATP2B3(NM_021949.3):c.3429C>T (p.D1143=) - ATP2B3_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3457G>A r.(?) p.(Ala1153Thr) - likely benign g.152835175G>A g.153569717G>A ATP2B3(NM_021949.3):c.3457G>A (p.(Ala1153Thr)) - ATP2B3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3496+8T>C r.(=) p.(=) - likely benign g.152835222T>C g.153569764T>C ATP2B3(NM_021949.3):c.3496+8T>C (p.(=)) - ATP2B3_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3497-17T>C r.(=) p.(=) - likely benign g.152845419T>C g.153579961T>C ATP2B3(NM_021949.3):c.3497-17T>C - ATP2B3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.*150C>T r.(=) p.(=) - likely benign g.152845611C>T g.153580153C>T 1 more item - ATP2B3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.*164T>C r.(=) p.(=) - VUS g.152845625T>C g.153580167T>C ATP2B3(NM_001001344.2):c.3532T>C (p.(Ser1178Pro)) - ATP2B3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*170A>C r.(=) p.(=) - likely benign g.152845631A>C g.153580173A>C ATP2B3(NM_001001344.2):c.3538A>C (p.(Asn1180His)) - ATP2B3_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*171A>C r.(=) p.(=) - likely benign g.152845632A>C g.153580174A>C ATP2B3(NM_001001344.2):c.3539A>C (p.(Asn1180Thr)) - ATP2B3_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*258C>A r.(=) p.(=) - likely benign g.152845719C>A g.153580261C>A ATP2B3(NM_001001344.3):c.3626C>A (p.P1209H) - ATP2B3_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.*276G>A r.(=) p.(=) - VUS g.152845737G>A - ATP2B3(NM_001001344.2):c.3644G>A (p.S1215N) - ATP2B3_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*277C>A r.(=) p.(=) - VUS g.152845738C>A g.153580280C>A ATP2B3(NM_001001344.2):c.3645C>A (p.S1215R) - ATP2B3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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