Full data view for gene DHX30

Information The variants shown are described using the NM_138615.2 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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.347_360del r.(?) p.(Ala116Valfs*12) Unknown - likely pathogenic g.47870605_47870618del g.47829115_47829128del - - DHX30_000026 - - - - De novo - - - 0 - DNA SEQ-NG - - NDD - - - F - - - - - - - 1 Davor Lessel
?/. - c.706A>G r.(?) p.(Ile236Val) Unknown - VUS g.47883144A>G - DHX30(NM_014966.3):c.589A>G (p.(Ile197Val)) - DHX30_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.723G>C r.(?) p.(Gln241His) Unknown - VUS g.47883161G>C g.47841671G>C DHX30(NM_001330990.2):c.639G>C (p.Q213H) - DHX30_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.790-20C>T r.(=) p.(=) Unknown - benign g.47884576C>T g.47843086C>T - - DHX30_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.952G>A r.(?) p.(Val318Met) Unknown - likely benign g.47887202G>A g.47845712G>A DHX30(NM_014966.3):c.835G>A (p.(Val279Met)) - DHX30_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1234C>T r.(?) p.(Arg412Cys) Unknown - VUS g.47887796C>T - DHX30(NM_001330990.1):c.1150C>T (p.R384C) - DHX30_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1254A>G r.(?) p.(Leu418=) Unknown - likely benign g.47887816A>G - DHX30(NM_138615.3):c.1254A>G (p.L418=) - DHX30_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1367C>T r.(?) p.(Ser456Phe) Unknown - VUS g.47887929C>T - DHX30(NM_138615.3):c.1367C>T (p.S456F) - DHX30_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1385G>A r.(?) p.(Gly462Glu) Unknown - pathogenic g.47887947G>A - - - DHX30_000021 - - - - De novo yes - - - - DNA SEQ-NG - - NDD - - - F ? - - - 0 - - 1 Davor Lessel
+/. 11 c.1478G>A r.(?) p.(Arg493His) Parent #1 - pathogenic g.47888040G>A g.47846550G>A - - DHX30_000003 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ? 28327206-PatGeneMatcher/HUGODIMS PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.1478G>A r.(?) p.(Arg493His) Unknown - pathogenic g.47888040G>A g.47846550G>A - - DHX30_000003 - - - - De novo yes - - 0 - DNA SEQ-NG-S - - - - - - - - - - - 0 - - 1 Davor Lessel
+/. - c.1478G>A r.(?) p.(Arg493His) Unknown - pathogenic g.47888040G>A g.47846550G>A - - DHX30_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1478G>A r.(?) p.(Arg493His) Unknown - pathogenic (dominant) g.47888040G>A g.47846550G>A - - DHX30_000003 - PubMed: Lessel 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES NDD PatA PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no France - - 0 - - 1 Johan den Dunnen
+/. - c.1478G>A r.(?) p.(Arg493His) Unknown - pathogenic (dominant) g.47888040G>A g.47846550G>A - - DHX30_000003 - PubMed: Lessel 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES NDD PatB PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents M no Netherlands - - 0 - - 1 Johan den Dunnen
?/. - c.1496_1497del r.(?) p.(Val499Glyfs*25) Unknown - VUS g.47888058_47888059del - DHX30(NM_138615.3):c.1496_1497delTG (p.V499Gfs*25) - DHX30_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1534C>T r.(?) p.(Arg512Cys) Unknown - VUS g.47888096C>T - DHX30(NM_138615.3):c.1534C>T (p.R512C) - DHX30_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1591G>T r.(?) p.(Ala531Ser) Unknown - VUS g.47888153G>T - - - DHX30_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1685A>G r.(?) p.(His562Arg) Parent #1 - pathogenic g.47888247A>G g.47846757A>G - - DHX30_000002 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ? 28327206-PatGeneMatcher PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.1685A>G r.(?) p.(His562Arg) Unknown - pathogenic (dominant) g.47888247A>G g.47846757A>G - - DHX30_000002 - PubMed: Lessel 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES NDD PatC PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Turkey - - 0 - - 1 Johan den Dunnen
?/. - c.1792C>T r.(?) p.(Arg598Cys) Unknown - VUS g.47888354C>T g.47846864C>T - - DHX30_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2174G>A r.(?) p.(Arg725His) Unknown - VUS g.47889334G>A - - - DHX30_000022 - - - - Germline yes - - - - DNA SEQ-NG - - NDD - - - M yes - - - - - - 1 Davor Lessel
+/. - c.2201C>A r.(?) p.(Ala734Asp) Unknown ACMG pathogenic g.47889361C>A - - - DHX30_000023 - - - - De novo yes - - - - DNA SEQ-NG - - NDD - - - F - - - - - - - 1 Davor Lessel
+/. - c.2215A>G r.(?) p.(Thr739Ala) Unknown ACMG pathogenic g.47889375A>G - - - DHX30_000024 - - - - Germline - - - - - DNA SEQ-NG - - NDD - - - M - - - - - - - 1 Davor Lessel
+/. - c.2342G>A r.(?) p.(Gly781Asp) Unknown - pathogenic g.47889725G>A g.47848235G>A - - DHX30_000004 - - - - De novo yes - - 0 - DNA SEQ-NG-S - - - - - - F - - - - 0 - - 1 Davor Lessel
+/. - c.2342G>A r.(?) p.(Gly781Asp) Unknown - pathogenic g.47889725G>A g.47848235G>A - - DHX30_000004 - - - - De novo yes - - 0 - DNA SEQ-NG-S - - - - - - M - - - - 0 - - 1 Davor Lessel
+/. - c.2342G>A r.(?) p.(Gly781Asp) Unknown - pathogenic (dominant) g.47889725G>A g.47848235G>A - - DHX30_000004 - PubMed: Lessel 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES NDD PatD PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no - Yemenite/Tripolitan Jewish - 0 - - 1 Johan den Dunnen
+/. - c.2342G>A r.(?) p.(Gly781Asp) Unknown - pathogenic (dominant) g.47889725G>A g.47848235G>A - - DHX30_000004 - PubMed: Lessel 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES NDD PatE PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - white, Europe - 0 - - 1 Johan den Dunnen
+/. 15 c.2344C>T r.(?) p.(Arg782Trp) Parent #1 - pathogenic g.47889727C>T g.47848237C>T - - DHX30_000001 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ? 28327206-PatBH5706_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 15 c.2344C>T r.(?) p.(Arg782Trp) Parent #1 - pathogenic g.47889727C>T g.47848237C>T - - DHX30_000001 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ? 28327206-PatBG PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.2344C>T r.(?) p.(Arg782Trp) Unknown - pathogenic g.47889727C>T g.47848237C>T - - DHX30_000001 - - - - De novo yes - - 0 - DNA SEQ-NG-I - - - - - - F - - - - 0 - - 1 Davor Lessel
?/. - c.2344C>T r.(?) p.(Arg782Trp) Unknown - VUS g.47889727C>T g.47848237C>T - - DHX30_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2344C>T r.(?) p.(Arg782Trp) Unknown - pathogenic (dominant) g.47889727C>T g.47848237C>T - - DHX30_000001 - PubMed: Lessel 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES NDD PatF PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no - Hispanic - 0 - - 1 Johan den Dunnen
+/. - c.2344C>T r.(?) p.(Arg782Trp) Unknown - pathogenic (dominant) g.47889727C>T g.47848237C>T - - DHX30_000001 - PubMed: Lessel 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES NDD PatG PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no - - - 0 - - 1 Johan den Dunnen
+/. - c.2344C>T r.(?) p.(Arg782Trp) Unknown - pathogenic (dominant) g.47889727C>T g.47848237C>T - - DHX30_000001 - PubMed: Lessel 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES NDD PatH PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Netherlands - - 0 - - 1 Johan den Dunnen
+?/. - c.2345G>A r.(?) p.(Arg782Gln) Unknown - likely pathogenic g.47889728G>A g.47848238G>A - - DHX30_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2345G>A r.(?) p.(Arg782Gln) Unknown ACMG pathogenic g.47889728G>A - - - DHX30_000011 - - - - De novo yes - - - - DNA SEQ-NG - - NDD - - - M - - - - - - - 1 Davor Lessel
+/. - c.2353C>T r.(?) p.(Arg785Cys) Unknown - pathogenic g.47889736C>T g.47848246C>T - - DHX30_000005 - - - - De novo yes - - 0 - DNA SEQ-NG-S - - - - - - F - - - - 0 - - 1 Davor Lessel
+/. - c.2353C>T r.(?) p.(Arg785Cys) Unknown - pathogenic g.47889736C>T g.47848246C>T - - DHX30_000005 - - - - De novo yes - - 0 - DNA SEQ-NG-S - - - - - - M - - - - 0 - - 1 Davor Lessel
+/. - c.2353C>T r.(?) p.(Arg785Cys) Unknown - pathogenic g.47889736C>T g.47848246C>T - - DHX30_000005 - - - - De novo yes - - 0 - DNA SEQ-NG-S - - - - - - F - - - - 0 - - 1 Davor Lessel
+?/. - c.2353C>T r.(?) p.(Arg785Cys) Unknown - likely pathogenic g.47889736C>T g.47848246C>T - - DHX30_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2353C>T r.(?) p.(Arg785Cys) Unknown - pathogenic (dominant) g.47889736C>T g.47848246C>T - - DHX30_000005 - PubMed: Lessel 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES NDD PatI PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Honduras Europe-NotrhWest;Honduras - 0 - - 1 Johan den Dunnen
+/. - c.2353C>T r.(?) p.(Arg785Cys) Unknown - pathogenic (dominant) g.47889736C>T g.47848246C>T - - DHX30_000005 - PubMed: Lessel 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES NDD PatJ PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents M no Mexico - - 0 - - 1 Johan den Dunnen
+/. - c.2353C>T r.(?) p.(Arg785Cys) Unknown - pathogenic (dominant) g.47889736C>T g.47848246C>T - - DHX30_000005 - PubMed: Lessel 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES NDD PatK PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Netherlands - - 0 - - 1 Johan den Dunnen
+/. - c.2354G>A r.(?) p.(Arg785His) Unknown - pathogenic g.47889737G>A g.47848247G>A - - DHX30_000006 - - - - De novo yes - - 0 - DNA SEQ-NG-S - - - - - - M - - - - 0 - - 1 Davor Lessel
+/. - c.2354G>A r.(?) p.(Arg785His) Unknown - pathogenic (dominant) g.47889737G>A g.47848247G>A - - DHX30_000006 - PubMed: Lessel 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES NDD PatL PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - white, Europe - 0 - - 1 Johan den Dunnen
+/. - c.2389C>T r.(?) p.(Arg797*) Unknown - pathogenic g.47889772C>T - - - DHX30_000027 - - - - Germline - - - - - DNA SEQ-NG - - NDD - - - M - - - - - - - 1 Davor Lessel
?/. - c.2644C>T r.(?) p.(Arg882Trp) Unknown - VUS g.47890182C>T - DHX30(NM_001330990.1):c.2560C>T (p.R854W) - DHX30_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2707G>A r.(?) p.(Val903Ile) Unknown - VUS g.47890245G>A - DHX30(NM_138615.3):c.2707G>A (p.V903I) - DHX30_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2723G>A r.(?) p.(Arg908Gln) Unknown - likely pathogenic g.47890261G>A - - - DHX30_000025 - - - - De novo - - - - - DNA SEQ-NG - - NDD - - - F - - - - - - - 1 Davor Lessel
?/. - c.2863C>T r.(?) p.(Arg955Cys) Unknown - VUS g.47890503C>T g.47849013C>T DHX30(NM_138615.3):c.2863C>T (p.R955C) - DHX30_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2930-4C>T r.spl? p.? Unknown - likely benign g.47890678C>T g.47849188C>T DHX30(NM_014966.3):c.2813-4C>T (p.?) - DHX30_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3312C>T r.(?) p.(Asp1104=) Unknown - benign g.47891240C>T g.47849750C>T - - DHX30_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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