Unique variants in the ATAD3A gene

Information The variants shown are described using the NM_018188.3 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
Legend   How to query  

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     
+/. 4 - c.-126_1358+266[2] r.-126_1358::[NM_001039211.2:690_*1628] p.Met1_Gly453::[NP_060658.3:Leu231_Ser411] - pathogenic (dominant) g.1391996_1460043dup g.1456616_1524663dup - - ATAD3A_000043 - PubMed: Gunning 2020, Journal: Wortmann 2020 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.-126_1359-303[2] r.-126_1358::[NM_001039211.2:690_*1628] p.Met1_Gly453::[NP_060658.3:Leu231_Ser411] - pathogenic (dominant) g.1392270_1460317dup g.1456890_1524937dup - - ATAD3A_000044 - PubMed: Gunning 2020, Journal: Wortmann 2020 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.-126_286[0] r.[NM_031921.4:-101_282]::283_*615 p.[NP_060658.3:Met1_Lys94]::Met95_Ser634 - pathogenic (recessive) g.1413884_1452550del g.1478504_1517170del - - ATAD3A_000048 - PubMed: Desai 2017, Journal: Desai 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.-126_588+254[0] r.[NM_031921.4:-101_444]::589_*615 p.[NP_060658.3:Met1_Gln148]::Gln197_Ser634 - pathogenic (recessive) g.1414743_1453409del g.1479363_1518029del - - ATAD3A_000046 - PubMed: Desai 2017, Journal: Desai 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.-126_588+96[0] r.[NM_031921.4:-101_444]::589_*615 p.[NP_060658.3:Met1_Gln148]::Gln197_Ser634 - pathogenic (recessive) g.1414585_1453251del g.1479205_1517871del - - ATAD3A_000047 - PubMed: Desai 2017, Journal: Desai 2017 - - Germline - - - - - Johan den Dunnen
+/. 3 - c.-126_658+54[0] r.[NM_031921.4:-101_514]::659_*615 p.[NP_060658.3:Met1_Ala172]::Thr221_Ser634 - pathogenic (recessive) g.1416370_1454423del g.1480990_1519043del - - ATAD3A_000045 - PubMed: Desai 2017, Journal: Desai 2017 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.? r.? p.? - pathogenic (recessive) g.(1383089_?)_(?_1447325)del g.(1447709_?)_(?_1511945)del - - ATAD3A_000049 1 more item PubMed: Desai 2017, Journal: Desai 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.19A>G r.(?) p.(Ile7Val) - VUS g.1447667A>G g.1512287A>G ATAD3A(NM_001170535.1):c.19A>G (p.(Ile7Val)) - ATAD3A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.45C>T r.(?) p.(Gly15=) - benign g.1447693C>T g.1512313C>T ATAD3A(NM_018188.4):c.45C>T (p.G15=) - ATAD3A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.87C>A r.(?) p.(Ala29=) - likely benign g.1447735C>A g.1512355C>A ATAD3A(NM_018188.4):c.87C>A (p.A29=) - ATAD3A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.230T>G r.(?) p.(Leu77Arg) - likely pathogenic g.1451416T>G g.1516036T>G ATAD3A(NM_018188.3):c.230T>G (p.(Leu77Arg)) - ATAD3A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.234A>G r.(?) p.(Ala78=) - likely benign g.1451420A>G - ATAD3A(NM_018188.4):c.234A>G (p.A78=) - ATAD3A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.287G>A r.(?) p.(Arg96Gln) - likely benign g.1452551G>A g.1517171G>A ATAD3A(NM_018188.3):c.287G>A (p.(Arg96Gln)) - ATAD3A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.302G>A r.(?) p.(Ser101Asn) - likely benign g.1452566G>A g.1517186G>A ATAD3A(NM_018188.3):c.302G>A (p.(Ser101Asn)) - ATAD3A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.340C>T r.(?) p.(Arg114Cys) - likely benign g.1452604C>T g.1517224C>T ATAD3A(NM_018188.3):c.340C>T (p.(Arg114Cys)) - ATAD3A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.382G>A r.(?) p.(Ala128Thr) - likely benign g.1452646G>A g.1517266G>A ATAD3A(NM_018188.3):c.382G>A (p.(Ala128Thr)) - ATAD3A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.556C>T r.(?) p.(Arg186Trp) - likely pathogenic g.1453123C>T - ATAD3A(NM_018188.3):c.556C>T (p.(Arg186Trp)) - ATAD3A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.592C>T r.(?) p.(Leu198Phe) - likely benign g.1454304C>T g.1518924C>T ATAD3A(NM_001170535.1):c.448C>T (p.(Leu150Phe)) - ATAD3A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.634C>T r.(?) p.(Gln212Ter) - likely pathogenic g.1454346C>T g.1518966C>T ATAD3A(NM_018188.3):c.634C>T (p.(Gln212Ter)) - ATAD3A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.715G>A r.(?) p.(Ala239Thr) - likely benign g.1455577G>A g.1520197G>A ATAD3A(NM_001170535.1):c.571G>A (p.(Ala191Thr)) - ATAD3A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.748G>A r.(?) p.(Glu250Lys) - VUS g.1455610G>A g.1520230G>A ATAD3A(NM_018188.4):c.748G>A (p.E250K) - ATAD3A_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.790G>T r.(?) p.(Ala264Ser) - likely benign g.1455652G>T g.1520272G>T ATAD3A(NM_018188.4):c.790G>T (p.A264S) - ATAD3A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.800G>A r.(?) p.(Arg267His) - VUS g.1455662G>A g.1520282G>A - - ATAD3A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.874T>C r.(?) p.(Trp292Arg) - likely benign g.1455977T>C g.1520597T>C ATAD3A(NM_001170535.1):c.730T>C (p.(Trp244Arg)) - ATAD3A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.895-6C>T r.(=) p.(=) - likely benign g.1458118C>T g.1522738C>T ATAD3A(NM_018188.4):c.895-6C>T - ATAD3A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.961C>A r.(?) p.(Arg321Ser) - VUS g.1458190C>A g.1522810C>A ATAD3A(NM_018188.4):c.961C>A (p.R321S) - ATAD3A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1051-5G>A r.spl? p.? - VUS g.1458886G>A g.1523506G>A ATAD3A(NM_018188.4):c.1051-5G>A - ATAD3A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1084G>A r.(?) p.(Ala362Thr) - VUS g.1458924G>A g.1523544G>A ATAD3A(NM_018188.4):c.1084G>A (p.A362T) - ATAD3A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1085C>T r.(?) p.(Ala362Val) - VUS g.1458925C>T g.1523545C>T ATAD3A(NM_018188.4):c.1085C>T (p.A362V) - ATAD3A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1110C>T r.(?) p.(Pro370=) - likely benign g.1459221C>T g.1523841C>T ATAD3A(NM_018188.4):c.1110C>T (p.P370=) - ATAD3A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1233+8C>T r.(=) p.(=) - likely benign g.1459352C>T g.1523972C>T ATAD3A(NM_001170535.1):c.1089+8C>T (p.(=)) - ATAD3A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1234-2A>T r.spl? p.? - pathogenic g.1459651A>T - ATAD3A(NM_018188.4):c.1234-2A>T - ATAD3A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1278C>T r.(?) p.(Gly426=) - VUS g.1459697C>T g.1524317C>T ATAD3A(NM_018188.4):c.1278C>T (p.G426=) - ATAD3A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1352G>A r.(?) p.(Arg451Gln) - likely benign g.1459771G>A g.1524391G>A ATAD3A(NM_001170535.1):c.1208G>A (p.(Arg403Gln)) - ATAD3A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1355G>A r.(?) p.(Arg452His) - VUS g.1459774G>A g.1524394G>A ATAD3A(NM_018188.4):c.1355G>A (p.R452H) - ATAD3A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1359-6T>C r.(=) p.(=) - benign g.1460614T>C g.1525234T>C ATAD3A(NM_018188.4):c.1359-6T>C - ATAD3A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1447G>A r.(?) p.(Ala483Thr) - VUS g.1461877G>A - ATAD3A(NM_018188.4):c.1447G>A (p.A483T) - ATAD3A_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1491G>A r.(?) p.(Leu497=) - likely benign g.1463084G>A g.1527704G>A ATAD3A(NM_018188.4):c.1491G>A (p.L497=) - ATAD3A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1540C>T r.(?) p.(Arg514Cys) - VUS g.1463133C>T - ATAD3A(NM_018188.3):c.1540C>T (p.(Arg514Cys)) - ATAD3A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1555G>A r.(?) p.(Val519Ile) - VUS g.1463148G>A - ATAD3A(NM_018188.4):c.1555G>A (p.V519I) - ATAD3A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 15 c.1726C>T r.(?) p.(Arg576Trp) - pathogenic g.1464679C>T g.1529299C>T NM_001170535:c.1582C>T (R528W) - ATAD3A_000001 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.1727G>A r.(?) p.(Arg576Gln) ACMG likely pathogenic g.1464680G>A g.1529300G>A 1727G>A (Arg576Gln) - ATAD3A_000063 ACMG PS2, PM2, PP3 PubMed: Courage 2021, Journal: Courage 2021 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.1732A>G r.(?) p.(Ile578Val) - likely benign g.1464685A>G g.1529305A>G ATAD3A(NM_001170535.1):c.1588A>G (p.(Ile530Val)) - ATAD3A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1759-4C>G r.spl? p.? - VUS g.1469302C>G g.1533922C>G ATAD3A(NM_018188.4):c.1759-4C>G - ATAD3A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 - c.1777G>A r.(?) p.(Glu593Lys) - VUS g.1469324G>A g.1533944G>A ATAD3A(NM_001170535.1):c.1633G>A (p.(Glu545Lys)), ATAD3A(NM_018188.4):c.1777G>A (p.E593K) - ATAD3A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.1783G>A r.(?) p.(Gly595Arg) - VUS g.1469330G>A g.1533950G>A ATAD3A(NM_001170535.1):c.1639G>A (p.(Gly547Arg)) - ATAD3A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1847A>T r.(?) p.(Lys616Met) - VUS g.1469394A>T g.1534014A>T ATAD3A(NM_018188.4):c.1847A>T (p.K616M) - ATAD3A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1865C>T r.(?) p.(Ala622Val) - likely benign g.1469412C>T - ATAD3A(NM_018188.4):c.1865C>T (p.A622V) - ATAD3A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.*1300G>A r.(=) p.(=) - pathogenic g.1470752G>A g.1535372G>A - - TMEM240_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.*1317G>A r.(=) p.(=) - benign g.1470769G>A g.1535389G>A TMEM240(NM_001114748.1):c.492C>T (p.H164=) - TMEM240_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1355C>T r.(=) p.(=) - likely benign g.1470807C>T - TMEM240(NM_001114748.1):c.454G>A (p.(Ala152Thr)) - ATAD3A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*1356G>A r.(=) p.(=) - likely benign g.1470808G>A g.1535428G>A TMEM240(NM_001114748.1):c.453C>T (p.A151=) - ATAD3A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1377C>T r.(=) p.(=) - likely benign g.1470829C>T g.1535449C>T TMEM240(NM_001114748.1):c.432G>A (p.P144=) - TMEM240_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.*1420C>T r.(=) p.(=) - VUS g.1470872C>T g.1535492C>T TMEM240(NM_001114748.1):c.389G>A (p.W130*) - ATAD3A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.*1609A>T r.(=) p.(=) - VUS g.1471061A>T g.1535681A>T - - ATAD3A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*1626G>A r.(=) p.(=) - likely benign g.1471078G>A g.1535698G>A TMEM240(NM_001114748.1):c.264C>T (p.I88=) - ATAD3A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.*1651G>A r.(=) p.(=) - likely benign, VUS g.1471103G>A g.1535723G>A TMEM240(NM_001114748.1):c.239C>T (p.T80M) - ATAD3A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.*1694C>T r.(=) p.(=) - VUS g.1471146C>T g.1535766C>T - - TMEM240_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
Legend   How to query