Unique variants in gene CXorf56

Information The variants shown are described using the NM_022101.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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     
?/. 2 - c.-2T>C r.(?) p.(=) - VUS g.118699320A>G g.119565357A>G - - CXorf56_000023 - - - - Germline - - - - - Yu Sun
?/. 2 - c.124+178del r.(=) p.(=) - VUS g.118699018del g.119565055del - - CXorf56_000015 - - - - Germline - - - - - Yu Sun
?/., +?/. 2 2 c.159_160insTA r.(?) p.(Asp54Ter), p.(Asp54*) - VUS, likely pathogenic g.118694313_118694314insTA g.119560350_119560351insTA CXorf56(NM_022101.3):c.159_160insTA (p.D54*) - CXorf56_000024 VKGL data sharing initiative Nederland PubMed: Verkerk 2018 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Rotterdam, Annemieke Verkerk
-?/. 1 - c.242+7100_242+7101delinsT r.(?) p.(=) - likely benign g.118687130_118687131delinsA g.119553167_119553168delinsA 118687129_118687131delAGTinsAA - CXorf56_000027 118687130_118687131delinsA PubMed: Kumar 2016, Journal: Kumar 2016 - - Germline - - - - - Thuong Ha
-?/. 1 - c.243-6397del r.(?) p.(=) - likely benign g.118685882del g.119551919del delT - CXorf56_000026 - PubMed: Kumar 2016, Journal: Kumar 2016 - - Germline - - - - - Thuong Ha
?/. 3 - c.284+271dup r.(=) p.(=) - VUS g.118679158dup g.119545195dup - - CXorf56_000020, CXorf56_000018 - - - - Germline - - - - - Yu Sun
?/. 1 - c.285-375C>T r.(=) p.(=) - VUS g.118678829G>A g.119544866G>A - - CXorf56_000009 - - - - Germline - - - - - Yu Sun
?/. 1 - c.285-363G>A r.(=) p.(=) - VUS g.118678817C>T g.119544854C>T - - CXorf56_000007 - - - - Germline - - - - - Yu Sun
+?/. 1 - c.303_304delinsACCC r.(?) p.(Phe101Leufs*20) - likely pathogenic g.118678435_118678436delinsGGGT g.119544472_119544473delinsGGGT - - CXorf56_000028 - PubMed: Rocha 2020, Journal: Rocha 2020 - - Germline yes - - - - Aida Bertoli-Avella
?/. 3 - c.375C>T r.(=), r.(?) p.(=) - VUS g.118678364G>A g.119544401G>A G125G - CXorf56_000005 recurrent, found 89 times PubMed: Tarpey 2009 - - Germline - 89/208 cases - - - Lucy Raymond, Yu Sun
+?/. 1 5 c.498_503del r.(?) p.(Glu167_Glu168del) - likely pathogenic g.118676486_118676491del g.119542523_119542528del - - CXorf56_000029 - PubMed: Rocha 2020, Journal: Rocha 2020 - - Germline yes - - - - Aida Bertoli-Avella
?/. 2 - c.513+218A>T r.(=) p.(=) - VUS g.118676250T>A g.119542287T>A - - CXorf56_000003 - - - - Germline - - - - - Yu Sun
?/. 2 - c.513+253C>T r.(=) p.(=) - VUS g.118676215G>A g.119542252G>A - - CXorf56_000004 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*189_*196del r.(=) p.(=) - VUS g.118673506_118673513del g.119539543_119539550del - - CXorf56_000006 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*190_*196del r.(=) p.(=) - VUS g.118673507_118673513del g.119539544_119539550del - - CXorf56_000008 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*190_*197del r.(=) p.(=) - VUS g.118673493_118673500del g.119539530_119539537del - - CXorf56_000014 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*191_*197del r.(=) p.(=) - VUS g.118673493_118673499del g.119539530_119539536del - - CXorf56_000012 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*1044C>T r.(=) p.(=) - VUS g.118672646G>A g.119538683G>A - - CXorf56_000011 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*1253C>T r.(=) p.(=) - VUS g.118672437G>A g.119538474G>A - - CXorf56_000010 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*1307del r.(=) p.(=) - VUS g.118672383del g.119538420del - - CXorf56_000017 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*1564G>A r.(=) p.(=) - VUS g.118672126C>T g.119538163C>T - - CXorf56_000002 - - - - Germline - - - - - Yu Sun
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