Unique variants in the RNU4ATAC gene

Information The variants shown are described using the NR_023343.1 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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 - n.5A>C r.(5a>c) - - pathogenic (recessive) g.122288460A>C g.121530884A>C - - RNU4ATAC_000025 - PubMed: Farach 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - n.5A>G r.(?) - - VUS g.122288460A>G g.121530884A>G RNU4ATAC(NR_023343.1):n.5A>G - CLASP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - n.7C>T r.(?) - - VUS g.122288462C>T g.121530886C>T RNU4ATAC(NR_023343.1):n.7C>T - CLASP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - n.8C>A r.(8c>a) - - pathogenic (recessive) g.122288463C>A g.121530887C>A - - RNU4ATAC_000029 - PubMed: Shelihan 2018 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 - n.8C>T r.(8c>u), r.(?) - - likely pathogenic, pathogenic (recessive) g.122288463C>T g.121530887C>T RNU4ATAC(NR_023343.1):n.8C>T - RNU4ATAC_000013 VKGL data sharing initiative Nederland PubMed: Merico 2015 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 1 - n.13C>G r.(13c>ug) - - pathogenic (recessive) g.122288468C>G g.121530892C>G - - RNU4ATAC_000021 - PubMed: Lionel 2018 - - Germline - - - - - Johan den Dunnen
+/. 7 - n.13C>T r.(13c>u), r.(?) - ACMG likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.122288468C>T g.121530892C>T NR_023343.1:n.13C>T, RNU4ATAC(NR_023343.1):n.13C>T - RNU4ATAC_000001 VKGL data sharing initiative Nederland PubMed: Bogaert 2017, PubMed: Hallermayr 2018, PubMed: Maddirevula 2018, PubMed: Merico 2015 - - CLASSIFICATION record, Germline ?, yes - - - - Johan den Dunnen, Andreas Laner, VKGL-NL_Utrecht
+/. 3 - n.16G>A r.(16g>a), r.(?) - - pathogenic, pathogenic (recessive) g.122288471G>A g.121530895G>A RNU4ATAC(NR_023343.1):n.16G>A - RNU4ATAC_000011 VKGL data sharing initiative Nederland PubMed: Dinur Schejter 2018, PubMed: Merico 2015 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 1 - n.17G>A r.(17g>a) - - pathogenic (recessive) g.122288472G>A g.121530896G>A - - RNU4ATAC_000024 - PubMed: Dinur Schejter 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 - n.17_101dup r.? - - pathogenic g.122288472_122288556dup g.121530896_121530980dup 16-100 dup - RNU4ATAC_000019 - PubMed: Kroigard 2016 - - Germline yes - - - - Johan den Dunnen
?/. 1 - n.23C>T r.(?) - - VUS g.122288478C>T g.121530902C>T RNU4ATAC(NR_023343.1):n.23C>T - CLASP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - n.25C>T r.(?) - - VUS g.122288480C>T g.121530904C>T RNU4ATAC(NR_023343.1):n.25C>T - CLASP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - n.29T>A r.(29u>a) - - pathogenic (recessive) g.122288484T>A g.121530908T>A - - RNU4ATAC_000027 - PubMed: Wang 2018 - - Germline yes - - - - Johan den Dunnen
+/. 1 - n.29T>C r.(29u>c - - pathogenic (recessive) g.122288484T>C g.121530908T>C - - RNU4ATAC_000022 - PubMed: Lionel 2018 - - Germline - - - - - Johan den Dunnen
+/. 2 - n.30G>A r.(30g>a), r.(?) - - pathogenic (recessive) g.122288485G>A, g.122288510G>A g.121530909G>A - - RNU4ATAC_000003, RNU4ATAC_000016 1 more item PubMed: He 2011, PubMed: Nagy 2012 - - Germline - - - - - Johan den Dunnen
?/. 1 - n.33C>G r.(?) - - VUS g.122288488C>G g.121530912C>G - - CLASP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - n.33C>T r.(?) - - VUS g.122288488C>T g.121530912C>T RNU4ATAC(NR_023343.1):n.33C>T - CLASP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - n.37G>A r.(?) - - pathogenic (recessive) g.122288492G>A g.121530916G>A - - RNU4ATAC_000009 - PubMed: Merico 2015 - - Germline yes - - - - Johan den Dunnen
+/. 2 - n.40C>T r.(40c>u) - - pathogenic (recessive) g.122288495C>T g.121530919C>T - - RNU4ATAC_000018 - PubMed: Kroigard 2016, PubMed: Putoux 2016 - - Germline yes - - - - Johan den Dunnen
?/. 1 - n.41G>A r.(?) - - VUS g.122288496G>A g.121530920G>A RNU4ATAC(NR_023343.1):n.41G>A - CLASP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - n.42C>T r.(?) - - VUS g.122288497C>T g.121530921C>T RNU4ATAC(NR_023343.1):n.42C>T - CLASP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 4 - n.46G>A r.(46g>a), r.(?) - ACMG likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.122288501G>A g.121530925G>A NR_023343.1:n.46G>A, RNU4ATAC(NR_023343.1):n.46G>A - RNU4ATAC_000017 ACMG criteria PS4, PM2, PM3, PP1, PP4, VKGL data sharing initiative Nederland PubMed: Farach 2018, PubMed: Kilic 2015, PubMed: Maddirevula 2018 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Utrecht
+/. 1 - n.48G>A r.(48g>a) - - pathogenic (recessive) g.122288503G>A g.121530927G>A - - RNU4ATAC_000010 - PubMed: Merico 2015 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 - n.50G>A r.(50g>a), r.(?) - - likely pathogenic, pathogenic (recessive) g.122288505G>A g.121530929G>A RNU4ATAC(NR_023343.1):n.50G>A - RNU4ATAC_000006 VKGL data sharing initiative Nederland PubMed: Edery 2011 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 1 - n.50G>C r.(50g>c) - - pathogenic (recessive) g.122288505G>C g.121530929G>C - - RNU4ATAC_000007 - PubMed: Edery 2011 - - Germline - - - - - Johan den Dunnen
+/. 44 - n.51G>A r.(51g>a), r.(?) - - pathogenic, pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 VKGL data sharing initiative Nederland PubMed: Abdel-Salam 2013, PubMed: Edery 2011, PubMed: Farach 2018, PubMed: Ferrell 2016, 5 more items - - CLASSIFICATION record, Germline, Germline/De novo (untested) yes - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 2 - n.53C>G r.(53c>g) - - pathogenic (recessive) g.122288508C>G g.121530932C>G - - RNU4ATAC_000008 - PubMed: Edery 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 - n.53C>T r.(53c>u) - - pathogenic (recessive) g.122288508C>T g.121530932C>T - - RNU4ATAC_000028 - PubMed: Shelihan 2018 - - Germline - - - - - Johan den Dunnen
+/. 7 - n.55G>A r.(55g>a) - - pathogenic (recessive) g.122288510G>A g.121530934G>A - - RNU4ATAC_000016 - PubMed: Abdel-Salam 2011, PubMed: Abdel-Salam 2012, PubMed: Abdel-Salam 2013, PubMed: Abdel-Salam 2016, 3 more items - - Germline yes - - - - Johan den Dunnen
+/. 1 - n.66G>C r.(66g>c) - - pathogenic (recessive) g.122288521G>C g.121530945G>C - - RNU4ATAC_000014 - PubMed: Abdel-Salam 2012 - - Germline - - - - - Johan den Dunnen
?/. 1 - n.73C>G r.(?) - - VUS g.122288528C>G - RNU4ATAC(NR_023343.1):n.73C>G - CLASP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - n.100dup r.(?) - - VUS g.122288555dup - RNU4ATAC(NR_023343.1):n.96_97insT - CLASP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 - n.111G>A r.(111g>a), r.(?) - ACMG pathogenic, pathogenic (recessive) g.122288566G>A g.121530990G>A - - RNU4ATAC_000004 ACMG PS3, PS4 PubMed: Farach 2018, PubMed: He 2011, PubMed: Nagy 2012 - - Germline yes - - - - Johan den Dunnen
+/. 1 - n.114G>C r.(114g>c) - - pathogenic (recessive) g.122288569G>C g.121530993G>C - - RNU4ATAC_000031 - PubMed: Shelihan 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 - n.116A>C r.(116a>c) - ACMG pathogenic g.122288571A>C g.121530995A>C - - RNU4ATAC_000002 - - - - Germline ? - - - - Andreas Laner
+/. 1 - n.116A>G r.(116a>g) - - pathogenic (recessive) g.122288571A>G g.121530995A>G - - RNU4ATAC_000023 - PubMed: Dinur Schejter 2018 - - Germline - - - - - Johan den Dunnen
+/. 2 - n.116A>T r.(116a>u) - - pathogenic (recessive) g.122288571A>T g.121530995A>T - - RNU4ATAC_000020 - PubMed: Bogaert 2017, PubMed: Hallermayr 2018 - - Germline yes - - - - Johan den Dunnen
+/. 1 - n.118T>C r.(118u>c) - - pathogenic (recessive) g.122288573T>C g.121530997T>C - - RNU4ATAC_000012 - PubMed: Merico 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 - n.120T>G r.(120u>g) - - pathogenic (recessive) g.122288575T>G g.121530999T>G - - RNU4ATAC_000030 - PubMed: Shelihan 2018 - - Germline - - - - - Johan den Dunnen
?/. 1 - n.123G>A r.(123g>a) - - VUS g.122288578G>A g.121531002G>A - - RNU4ATAC_000026 - PubMed: Farach 2018 - - Germline - - - - - Johan den Dunnen
+/. 4 - n.124G>A r.(124g>a), r.(?) - - pathogenic, pathogenic (recessive) g.122288579G>A g.121531003G>A - - RNU4ATAC_000015 VKGL data sharing initiative Nederland PubMed: Abdel-Salam 2012, PubMed: Putoux 2016 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
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