Full data view for gene DHX37

Information The variants shown are described using the NM_032656.3 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-4822_-4814dup r.(?) p.(=) Unknown - VUS g.125478402_125478410dup g.124993856_124993864dup BRI3BP(NM_080626.5):c.45_46insCTGCTGCTG (p.?) - BRI3BP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4819_-4814dup r.(?) p.(=) Unknown - VUS g.125478405_125478410dup g.124993859_124993864dup BRI3BP(NM_080626.5):c.45_46insCTGCTG (p.(Leu15_Leu16insLeuLeu)) - BRI3BP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70C>T r.(?) p.(Pro24Ser) Unknown - likely benign g.125473499G>A - DHX37(NM_032656.4):c.70C>T (p.P24S) - BRI3BP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.106+7_106+8del r.(=) p.(=) Unknown - benign g.125473456_125473457del - DHX37(NM_032656.4):c.106+7_106+8del - BRI3BP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141C>T r.(?) p.(Asn47=) Unknown - likely benign g.125470777G>A - DHX37(NM_032656.4):c.141C>T (p.N47=) - DHX37_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.156G>A r.(?) p.(=) Unknown - VUS g.125470762C>T - DHX37(NM_032656.4):c.156G>A (p.(Pro52=)) - DHX37_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.226_228del r.(?) p.(Glu76del) Unknown - VUS g.125470692_125470694del - DHX37(NM_032656.4):c.226_228del (p.(Glu76del)) - DHX37_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276+4C>T r.spl? p.? Unknown - likely benign g.125470638G>A - DHX37(NM_032656.4):c.276+4C>T - DHX37_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.339T>C r.(?) p.(Phe113=) Unknown - likely benign g.125467107A>G - DHX37(NM_032656.4):c.339T>C (p.F113=) - DHX37_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.499_504del r.(?) p.(Glu167_Glu168del) Unknown - VUS g.125465291_125465296del - DHX37(NM_032656.4):c.499_504del (p.(Glu167_Glu168del)) - DHX37_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.628G>A r.(?) p.(Val210Met) Unknown - VUS g.125465146C>T - DHX37(NM_032656.3):c.628G>A (p.(Val210Met)) - DHX37_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738+4C>T r.spl? p.? Unknown - likely benign g.125465032G>A - DHX37(NM_032656.4):c.738+4C>T - DHX37_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.798C>T r.(?) p.(Ala266=) Unknown - likely benign g.125461977G>A g.124977431G>A DHX37(NM_032656.4):c.798C>T (p.A266=) - DHX37_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.811G>A r.(?) p.(Val271Ile) Unknown - likely benign g.125461964C>T g.124977418C>T DHX37(NM_032656.3):c.811G>A (p.(Val271Ile)), DHX37(NM_032656.4):c.811G>A (p.V271I) - DHX37_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.811G>A r.(?) p.(Val271Ile) Unknown - likely benign g.125461964C>T - DHX37(NM_032656.3):c.811G>A (p.(Val271Ile)), DHX37(NM_032656.4):c.811G>A (p.V271I) - DHX37_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.828G>C r.(?) p.(Glu276Asp) Unknown - VUS g.125461947C>G - DHX37(NM_032656.3):c.828G>C (p.(Glu276Asp)) - DHX37_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.897C>T r.(?) p.(Ser299=) Unknown - likely benign g.125460048G>A - DHX37(NM_032656.4):c.897C>T (p.S299=) - DHX37_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.904G>A r.(?) p.(Gly302Ser) Unknown - VUS g.125460041C>T g.124975495C>T DHX37(NM_032656.3):c.904G>A (p.(Gly302Ser)), DHX37(NM_032656.4):c.904G>A (p.G302S) - DHX37_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.904G>A r.(?) p.(Gly302Ser) Unknown - VUS g.125460041C>T - DHX37(NM_032656.3):c.904G>A (p.(Gly302Ser)), DHX37(NM_032656.4):c.904G>A (p.G302S) - DHX37_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.922C>G r.(?) p.(Arg308Gly) Unknown - pathogenic g.125460023G>C g.124975477G>C Arg308Gln - DHX37_000022 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - SRXY D724 PubMed: Kekou 2023 - - - Greece - - - - - 1 Johan den Dunnen
+/. - c.923G>A r.(?) p.(Arg308Gln) Unknown - pathogenic g.125460022C>T - DHX37(NM_032656.4):c.923G>A (p.R308Q) - DHX37_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.934G>A r.(?) p.(Val312Met) Unknown - VUS g.125460011C>T g.124975465C>T DHX37(NM_032656.4):c.934G>A (p.V312M) - DHX37_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.949C>T r.(?) p.(Arg317Ter) Unknown - VUS g.125459996G>A g.124975450G>A - - DHX37_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1049A>T r.(?) p.(Asp350Val) Unknown - VUS g.125457077T>A - - - DHX37_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1142C>T r.(?) p.(Thr381Met) Unknown - VUS g.125455897G>A - DHX37(NM_032656.4):c.1142C>T (p.T381M) - DHX37_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1155C>T r.(?) p.(Ile385=) Unknown - likely benign g.125455884G>A g.124971338G>A DHX37(NM_032656.4):c.1155C>T (p.I385=) - DHX37_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1191+5C>T r.spl? p.? Unknown - VUS g.125455843G>A - DHX37(NM_032656.4):c.1191+5C>T - DHX37_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1257C>A r.(?) p.(Asn419Lys) Both (homozygous) - pathogenic g.125453449G>T g.124968903G>T NM_032656: c.C1257A; p.N419K - DHX37_000002 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB4434 PubMed: Karaca 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
-?/. - c.1374G>A r.(?) p.(Arg458=) Unknown - likely benign g.125453114C>T - DHX37(NM_032656.4):c.1374G>A (p.R458=) - DHX37_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1393C>T r.(?) p.(Arg465Trp) Unknown - VUS g.125453095G>A - DHX37(NM_032656.4):c.1393C>T (p.(Arg465Trp)) - DHX37_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1460G>A r.(?) p.(Arg487His) Both (homozygous) - pathogenic g.125451713C>T g.124967167C>T NM_032656: c.G1460A; p.R487H - DHX37_000001 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB4019 PubMed: Karaca 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
-?/. - c.1516G>A r.(?) p.(Asp506Asn) Unknown - likely benign g.125451413C>T g.124966867C>T DHX37(NM_032656.4):c.1516G>A (p.D506N) - DHX37_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1631C>T r.(?) p.(Pro544Leu) Unknown - likely benign g.125450318G>A - - - DHX37_000030 - - - rs148596974 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1750G>A r.(?) p.(Ala584Thr) Unknown - likely benign g.125449538C>T - DHX37(NM_032656.3):c.1750G>A (p.(Ala584Thr)) - DHX37_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1771C>T r.(?) p.(Leu591Phe) Unknown - likely pathogenic g.125449517G>A - DHX37(NM_032656.3):c.1771C>T (p.(Leu591Phe)) - DHX37_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1779G>A r.(?) p.(Leu593=) Unknown - likely benign g.125449509C>T - DHX37(NM_032656.4):c.1779G>A (p.L593=) - DHX37_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1834G>A r.(?) p.(Gly612Arg) Unknown - VUS g.125449151C>T - - - DHX37_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1879C>T r.(?) p.(Leu627Phe) Unknown - VUS g.125449106G>A - - - DHX37_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2024C>T r.(?) p.(Thr675Met) Unknown - VUS g.125448961G>A g.124964415G>A DHX37(NM_032656.4):c.2024C>T (p.(Thr675Met), p.T675M) - DHX37_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2024C>T r.(?) p.(Thr675Met) Unknown - VUS g.125448961G>A - DHX37(NM_032656.4):c.2024C>T (p.(Thr675Met), p.T675M) - DHX37_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2695+4C>T r.spl? p.? Unknown - likely benign g.125438422G>A - DHX37(NM_032656.4):c.2695+4C>T - DHX37_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2785G>A r.(?) p.(Val929Met) Unknown - VUS g.125437027C>T - DHX37(NM_032656.4):c.2785G>A (p.V929M) - DHX37_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2868+1G>A r.spl? p.? Unknown - VUS g.125436943C>T g.124952397C>T - - DHX37_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2932G>A r.(?) p.(Glu978Lys) Unknown - VUS g.125435287C>T - DHX37(NM_032656.3):c.2932G>A (p.(Glu978Lys)), DHX37(NM_032656.4):c.2932G>A (p.E978K) - DHX37_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2932G>A r.(?) p.(Glu978Lys) Unknown - VUS g.125435287C>T - DHX37(NM_032656.3):c.2932G>A (p.(Glu978Lys)), DHX37(NM_032656.4):c.2932G>A (p.E978K) - DHX37_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3061C>A r.(?) p.(Pro1021Thr) Unknown - VUS g.125435019G>T - DHX37(NM_032656.4):c.3061C>A (p.(Pro1021Thr)) - DHX37_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3085C>T r.(?) p.(Arg1029Trp) Unknown - VUS g.125434995G>A g.124950449G>A DHX37(NM_032656.4):c.3085C>T (p.R1029W) - DHX37_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3086G>A r.(?) p.(Arg1029Gln) Unknown - likely benign g.125434994C>T - DHX37(NM_032656.3):c.3086G>A (p.(Arg1029Gln)) - DHX37_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3092G>A r.(?) p.(Arg1031Gln) Unknown - likely benign g.125434988C>T - DHX37(NM_032656.4):c.3092G>A (p.R1031Q) - DHX37_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3092G>A r.(?) p.(Arg1031Gln) Unknown - likely benign g.125434988C>T - DHX37(NM_032656.4):c.3092G>A (p.R1031Q) - DHX37_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3125G>A r.(?) p.(Arg1042His) Unknown - VUS g.125434786C>T - DHX37(NM_032656.4):c.3125G>A (p.(Arg1042His)) - DHX37_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3216+3A>G r.spl? p.? Unknown - likely benign g.125434692T>C - DHX37(NM_032656.4):c.3216+3A>G - DHX37_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3216+3A>G r.spl? p.? Unknown - likely benign g.125434692T>C - DHX37(NM_032656.4):c.3216+3A>G - DHX37_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3301C>T r.(?) p.(Arg1101Cys) Unknown - VUS g.125432717G>A - DHX37(NM_032656.4):c.3301C>T (p.R1101C) - DHX37_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3389-7C>G r.(=) p.(=) Unknown - likely benign g.125432440G>C - DHX37(NM_032656.4):c.3389-7C>G - DHX37_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3436G>A r.(?) p.(Asp1146Asn) Unknown - VUS g.125432386C>T - DHX37(NM_032656.4):c.3436G>A (p.D1146N) - DHX37_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3440T>C r.(?) p.(Ile1147Thr) Unknown - VUS g.125432382A>G - DHX37(NM_032656.4):c.3440T>C (p.I1147T) - DHX37_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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