Full data view for gene DHX9

Information The variants shown are described using the NM_001357.4 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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     
+?/. - c.422G>A r.(?) p.(Arg141Gln) Unknown - likely pathogenic (dominant) g.182822498G>A g.182853363G>A - - DHX9_000006 - PubMed: Calame 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.627-4dup r.spl p.? Unknown - likely pathogenic (dominant) g.182825663dup g.182856528dup 627-4dupA - DHX9_000007 - PubMed: Calame 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.674-1G>A r.spl p.? Unknown - likely pathogenic g.182827238G>A g.182858103G>A - - DHX9_000005 - PubMed: Calame 2023 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - NDD BAB4646 PubMed: Calame 2023 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.685C>T r.(?) p.(Arg229Ter) Unknown - likely pathogenic (dominant) g.182827250C>T g.182858115C>T - - DHX9_000008 - PubMed: Calame 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.1232G>A r.(?) p.(Gly411Glu) Unknown - likely pathogenic (dominant) g.182829219G>A g.182860084G>A - - DHX9_000009 - PubMed: Calame 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.1417G>A r.(?) p.(Val473Ile) Unknown - likely pathogenic (dominant) g.182835663G>A g.182866528G>A - - DHX9_000010 - PubMed: Calame 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.1822T>G r.(?) p.(Cys608Gly) Unknown - likely pathogenic (dominant) g.182845191T>G g.182876056T>G - - DHX9_000011 - PubMed: Calame 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.2075_2076del r.(?) p.(Glu693GlyfsTer7) Unknown - likely pathogenic (dominant) g.182845630_182845631del g.182876495_182876496del 2075_2076delGA - DHX9_000012 - PubMed: Calame 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat10 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.2281C>T r.(?) p.(Arg761Trp) Unknown - likely pathogenic (dominant) g.182847238C>T g.182878103C>T - - DHX9_000013 - PubMed: Calame 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat13 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.2282G>A r.(?) p.(Arg761Gln) Unknown - likely pathogenic (dominant) g.182847239G>A g.182878104G>A - - DHX9_000014 - PubMed: Calame 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat11 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.2290C>T r.(?) p.(Arg764*) Unknown - VUS g.182847247C>T g.182878112C>T - - DHX9_000004 - PubMed: Calame 2023 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - ? M42-1 PubMed: Calame 2023 family, 2 affected sibs - - United States - - - - - 1 Johan den Dunnen
?/. - c.2351+8C>A r.(=) p.(=) Unknown - VUS g.182847316C>A g.182878181C>A DHX9(NM_001357.4):c.2351+8C>A (p.(=)) - DHX9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2425C>T r.(?) p.(Arg809Cys) Unknown - VUS g.182848458C>T - - - DHX9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2510G>C r.(?) p.(Arg837Thr) Unknown - likely pathogenic (dominant) g.182848543G>C g.182879408G>C - - DHX9_000015 - PubMed: Calame 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CMT Pat16 PubMed: Calame 2023 2-generation family, 1 affected M - - - - - - - 1 Johan den Dunnen
+?/. - c.2537A>G r.(?) p.(Asp846Gly) Unknown - likely pathogenic (dominant) g.182849656A>G g.182880521A>G - - DHX9_000016 - PubMed: Calame 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat15 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.2786+1G>T r.spl p.? Unknown - likely pathogenic (dominant) g.182850561G>T g.182881426G>T - - DHX9_000017 - PubMed: Calame 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Calame 2023 2-generation family, 1 affected M - - - - - - - 1 Johan den Dunnen
+?/. - c.3155G>A r.(?) p.(Arg1052Gln) Unknown - likely pathogenic (dominant) g.182852665G>A g.182883530G>A - - DHX9_000003 - PubMed: Iossifov 2014, PubMed: Calame 2023 - - De novo - - - - - DNA SEQ-NG - - ? patient PubMed: Iossifov 2014, PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.3166G>A r.(?) p.(Ala1056Thr) Unknown - VUS g.182852676G>A g.182883541G>A DHX9(NM_001357.4):c.3166G>A (p.(Ala1056Thr)) - DHX9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3488A>G r.(?) p.(Lys1163Arg) Unknown - likely pathogenic (dominant) g.182856244A>G g.182887109A>G - - DHX9_000018 - PubMed: Calame 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.3497G>C r.(?) p.(Arg1166Pro) Unknown - likely pathogenic (dominant) g.182856253G>C g.182887118G>C - - DHX9_000019 - PubMed: Calame 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+?/. - c.3497G>C r.(?) p.(Arg1166Pro) Unknown - likely pathogenic (dominant) g.182856253G>C g.182887118G>C - - DHX9_000019 - PubMed: Calame 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Poland - - - - - 1 Johan den Dunnen
-?/. - c.3586_3600del r.(?) p.(Ser1196_Gly1200del) Unknown - likely benign g.182856342_182856356del - DHX9(NM_001357.5):c.3586_3600del (p.(Ser1196_Gly1200del)) - DHX9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3763G>A r.(?) p.(Ala1255Thr) Unknown - likely pathogenic (dominant) g.182856519G>A g.182887384G>A - - DHX9_000020 - PubMed: Calame 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CMT Pat17 PubMed: Calame 2023 2-generation family, 1 affected M yes - - - - - - 1 Johan den Dunnen
+?/. - c.3787C>T r.(?) p.(Gln1263Ter) Unknown - likely pathogenic (dominant) g.182856543C>T g.182887408C>T - - DHX9_000021 - PubMed: Calame 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat14 PubMed: Calame 2023 2-generation family, 1 affected M - - - - - - - 1 Johan den Dunnen
-?/. - c.3805G>A r.(?) p.(Gly1269Ser) Unknown - likely benign g.182856561G>A - DHX9(NM_001357.5):c.3805G>A (p.(Gly1269Ser)) - DHX9_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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