Full data view for gene THOC6

Information The variants shown are described using the NM_024339.3 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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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.40-5T>C r.spl? p.? Unknown - likely benign g.3075704T>C g.3025703T>C THOC6(NM_001142350.1):c.40-5T>C (p.?) - HCFC1R1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.135C>A r.(?) p.(Tyr45*) Parent #1 - likely pathogenic (recessive) g.3075804C>A g.3025803C>A NM_001142350.1:c.135C>A - THOC6_000016 - PubMed: Nambot 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PED2118.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.136G>A r.(?) p.(Gly46Arg) Unknown - likely pathogenic g.3075805G>A g.3025804G>A THOC6(NM_024339.4):c.136G>A (p.G46R) - THOC6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.136G>A r.(?) p.(Gly46Arg) Both (homozygous) - pathogenic (recessive) g.3075805G>A g.3025804G>A - - THOC6_000001 - PubMed: Beaulieu 2016 - - Germline yes - - - - DNA SEQ - - BBIS Fam1 PubMed: Beaulieu 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - United States Hutterite - - - - 2 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Arg) Both (homozygous) - pathogenic (recessive) g.3075805G>A g.3025804G>A - - THOC6_000001 - PubMed: Beaulieu 2016 - - Germline yes - - - - DNA SEQ - - BBIS Fam2 PubMed: Beaulieu 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - United States Hutterite - - - - 2 Johan den Dunnen
?/. - c.138G>T r.(?) p.(=) Unknown - VUS g.3075807G>T - THOC6(NM_024339.5):c.138G>T (p.(Gly46=)) - HCFC1R1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.139C>T r.(?) p.(Gln47*) Unknown - pathogenic g.3075808C>T g.3025807C>T - - THOC6_000008 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+?/. - c.139C>T r.(?) p.(Gln47*) Unknown - likely pathogenic g.3075808C>T - THOC6(NM_024339.5):c.139C>T (p.(Gln47*)) - THOC6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.241dup r.(?) p.(Ser81Lysfs*11) Unknown ACMG likely pathogenic g.3076084dup g.3026083dup - - THOC6_000013 ACMG grading: PVS1,PM2 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.259C>T r.(?) p.(Arg87*) Both (homozygous) - pathogenic (recessive) g.3076102C>T g.3026101C>T - - THOC6_000009 - PubMed: Anazi 2016 - - Germline yes - - - - DNA SEQ - - ID FamPat1 PubMed: Anazi 2016 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.259C>T r.(?) p.(Arg87*) Both (homozygous) ACMG likely pathogenic g.3076102C>T g.3026101C>T - - THOC6_000009 ACMG PVS1, PM2 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 11DG2322 PubMed: Anazi 2017 simplex case M yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.298T>A r.(?) p.(Trp100Arg) Unknown - VUS g.3076141T>A g.3026140T>A THOC6(NM_024339.4):c.298T>A (p.W100R), THOC6(NM_024339.5):c.298T>A (p.W100R) - THOC6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.298T>A r.(?) p.(Trp100Arg) Both (homozygous) - pathogenic (recessive) g.3076141T>A g.3026140T>A - - THOC6_000002 - - - - Germline yes - - - - DNA SEQ-NG Blood WES (whole exome sequencing) BBIS Patient_1 - 2 affected male from non-consanguineous marriage; unaffected heterozygous carrier parents M no India South Asian - - - - 2 MedGenome_db
+/. - c.298T>A r.(?) p.(Trp100Arg) Both (homozygous) - pathogenic (recessive) g.3076141T>A g.3026140T>A - - THOC6_000002 - PubMed: Casey 2016 - - Germline - - - - - DNA SEQ - - BBIS - PubMed: Casey 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Ireland - - - - - 1 Johan den Dunnen
+/. - c.298T>A r.(?) p.(Trp100Arg) Both (homozygous) - pathogenic (recessive) g.3076141T>A g.3026140T>A - - THOC6_000002 - PubMed: Mattioli 2018 - - Uniparental disomy, maternal allele - - - - - DNA SEQ - - BBIS Pat1 PubMed: Mattioli 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - European - - - - 1 Johan den Dunnen
+/. - c.298T>A r.(?) p.(Trp100Arg) Maternal (confirmed) - pathogenic (recessive) g.3076141T>A g.3026140T>A - - THOC6_000002 - PubMed: Mattioli 2018 - - Germline - - - - - DNA SEQ - - BBIS Pat2 PubMed: Mattioli 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - European, north - - - - 1 Johan den Dunnen
+/. - c.298T>A r.(?) p.(Trp100Arg) Unknown - pathogenic g.3076141T>A g.3026140T>A THOC6(NM_024339.4):c.298T>A (p.W100R), THOC6(NM_024339.5):c.298T>A (p.W100R) - THOC6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.298T>A r.(?) p.(Trp100Arg) Unknown - likely pathogenic g.3076141T>A - THOC6(NM_024339.4):c.298T>A (p.W100R), THOC6(NM_024339.5):c.298T>A (p.W100R) - THOC6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529C>T r.(?) p.(Arg177Trp) Unknown - VUS g.3076725C>T g.3026724C>T THOC6(NM_024339.5):c.529C>T (p.R177W) - HCFC1R1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.553T>C r.(?) p.(Ser185Pro) Unknown - VUS g.3076749T>C - THOC6(NM_024339.3):c.553T>C (p.(Ser185Pro)) - HCFC1R1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.569G>A r.(?) p.(Gly190Glu) Unknown - likely pathogenic g.3076765G>A g.3026764G>A THOC6(NM_024339.4):c.569G>A (p.G190E), THOC6(NM_024339.5):c.569G>A (p.G190E) - THOC6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.569G>A r.(?) p.(Gly190Glu) Paternal (confirmed) - pathogenic (recessive) g.3076765G>A g.3026764G>A - - THOC6_000006 - PubMed: Mattioli 2018 - - Germline - - - - - DNA SEQ - - BBIS Pat2 PubMed: Mattioli 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - European, north - - - - 1 Johan den Dunnen
+?/. - c.569G>A r.(?) p.(Gly190Glu) Unknown - likely pathogenic g.3076765G>A g.3026764G>A THOC6(NM_024339.4):c.569G>A (p.G190E), THOC6(NM_024339.5):c.569G>A (p.G190E) - THOC6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.569G>A r.(?) p.(Gly190Glu) Unknown - likely pathogenic g.3076765G>A - THOC6(NM_024339.4):c.569G>A (p.G190E), THOC6(NM_024339.5):c.569G>A (p.G190E) - THOC6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.569G>A r.(?) p.(Gly190Glu) Parent #2 - VUS g.3076765G>A g.3026764G>A NM_001142350.1:c.569G>A - THOC6_000006 - PubMed: Nambot 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PED2118.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+/. - c.577C>T r.(?) p.(Arg193*) Maternal (confirmed) - pathogenic (recessive) g.3076773C>T g.3026772C>T - - THOC6_000010 - PubMed: Accogli 2018 - - Germline - - - - - DNA SEQ - - BBIS - PubMed: Accogli 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - - - - - 1 Johan den Dunnen
?/. - c.578G>A r.(?) p.(Arg193Gln) Unknown - VUS g.3076774G>A - THOC6(NM_024339.5):c.578G>A (p.(Arg193Gln)) - HCFC1R1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.700G>C r.(?) p.(Val234Leu) Both (homozygous) - VUS g.3077171G>C g.3027170G>C - - THOC6_000003 - - - - Germline yes - - - - DNA SEQ-NG Blood WES (whole exome sequencing) BBIS Patient_1 - 2 affected male from non-consanguineous marriage; unaffected heterozygous carrier parents M no India South Asian - - - - 2 MedGenome_db
-?/. - c.700G>C r.(?) p.(Val234Leu) Both (homozygous) - likely benign g.3077171G>C g.3027170G>C - - THOC6_000003 - PubMed: Casey 2016 - - Germline - - - - - DNA SEQ - - BBIS - PubMed: Casey 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Ireland - - - - - 1 Johan den Dunnen
-?/. - c.700G>C r.(?) p.(Val234Leu) Both (homozygous) - likely benign g.3077171G>C g.3027170G>C - - THOC6_000003 - PubMed: Mattioli 2018 - - Uniparental disomy, maternal allele - - - - - DNA SEQ - - BBIS Pat1 PubMed: Mattioli 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - European - - - - 1 Johan den Dunnen
-?/. - c.700G>C r.(?) p.(Val234Leu) Maternal (confirmed) - likely benign g.3077171G>C g.3027170G>C - - THOC6_000003 - PubMed: Mattioli 2018 - - Germline - - - - - DNA SEQ - - BBIS Pat2 PubMed: Mattioli 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - European, north - - - - 1 Johan den Dunnen
+/. 11 c.713del r.(?) p.(Gly238AlafsTer33) Both (homozygous) - pathogenic (recessive) g.3077184del g.3027183del 709delG - THOC6_000017 - PubMed: Elmas 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPat10 PubMed: Elmas 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Turkey - - - - - 2 Johan den Dunnen
+/. 11 c.713del r.(?) p.(Gly238AlafsTer33) Both (homozygous) - pathogenic (recessive) g.3077184del g.3027183del 709delG - THOC6_000017 - PubMed: Elmas 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPat11 PubMed: Elmas 2019 brother M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.793_794del r.(?) p.(Thr265Leufs*48) Paternal (confirmed) - pathogenic (recessive) g.3077264_3077265del g.3027263_3027264del 792_793delCA - THOC6_000011 - PubMed: Accogli 2018 - - Germline - - - - - DNA SEQ - - BBIS - PubMed: Accogli 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - - - - - 1 Johan den Dunnen
?/. - c.824G>A r.(?) p.(Gly275Asp) Unknown - VUS g.3077380G>A g.3027379G>A THOC6(NM_024339.4):c.824G>A (p.G275D), THOC6(NM_024339.5):c.824G>A (p.G275D) - THOC6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.824G>A r.(?) p.(Gly275Asp) Both (homozygous) - pathogenic (recessive) g.3077380G>A g.3027379G>A - - THOC6_000004 - - - - Germline yes - - - - DNA SEQ-NG Blood WES (whole exome sequencing) BBIS Patient_1 - 2 affected male from non-consanguineous marriage; unaffected heterozygous carrier parents M no India South Asian - - - - 2 MedGenome_db
+/. - c.824G>A r.(?) p.(Gly275Asp) Both (homozygous) - pathogenic (recessive) g.3077380G>A g.3027379G>A - - THOC6_000004 - PubMed: Casey 2016 - - Germline - - - - - DNA SEQ - - BBIS - PubMed: Casey 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Ireland - - - - - 1 Johan den Dunnen
+/. - c.824G>A r.(?) p.(Gly275Asp) Both (homozygous) - pathogenic (recessive) g.3077380G>A g.3027379G>A - - THOC6_000004 - PubMed: Mattioli 2018 - - Uniparental disomy, maternal allele - - - - - DNA SEQ - - BBIS Pat1 PubMed: Mattioli 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - European - - - - 1 Johan den Dunnen
+/. - c.824G>A r.(?) p.(Gly275Asp) Unknown - pathogenic g.3077380G>A g.3027379G>A THOC6(NM_024339.4):c.824G>A (p.G275D), THOC6(NM_024339.5):c.824G>A (p.G275D) - THOC6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.824G>A r.(?) p.(Gly275Asp) Unknown - likely pathogenic g.3077380G>A - THOC6(NM_024339.4):c.824G>A (p.G275D), THOC6(NM_024339.5):c.824G>A (p.G275D) - THOC6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.824G>C r.(?) p.(Gly275Ala) Maternal (confirmed) - pathogenic (recessive) g.3077380G>C g.3027379G>C - - THOC6_000012 - PubMed: Mattioli 2018 - - Germline - - - - - DNA SEQ - - BBIS Pat2 PubMed: Mattioli 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - European, north - - - - 1 Johan den Dunnen
+?/. - c.859G>A r.(?) p.(Gly287Arg) Unknown - likely pathogenic g.3077415G>A g.3027414G>A THOC6(NM_024339.5):c.859G>A (p.(Gly287Arg)) - THOC6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.859G>A r.(?) p.(Gly287Arg) Unknown - VUS g.3077415G>A - THOC6(NM_024339.5):c.859G>A (p.(Gly287Arg)) - THOC6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.859G>C r.(?) p.(Gly287Arg) Unknown ACMG VUS g.3077415G>C g.3027414G>C - - THOC6_000014 ACMG grading: PM2,PP3 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+?/. - c.893del r.(?) p.(Pro298GlnfsTer20) Both (homozygous) - likely pathogenic (recessive) g.3077449del g.3027448del - - THOC6_000015 - PubMed: Nair 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat1 PubMed: Nair 2018 patient - - Lebanon - - - - - 1 Johan den Dunnen
-?/. - c.*69del r.(?) p.(=) Unknown - likely benign g.3077727del g.3027726del THOC6(NM_024339.5):c.*69delT - THOC6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*761dup r.(?) p.(=) Unknown - VUS g.3078419dup g.3028418dup CCDC64B(NM_001103175.1):c.1291dupC (p.(Leu431ProfsTer73)) - HCFC1R1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3109C>T r.(=) p.(=) Unknown - VUS g.3080767C>T - BICDL2(NM_001103175.1):c.545G>A (p.R182Q) - HCFC1R1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3390C>T r.(=) p.(=) Unknown - VUS g.3081048C>T g.3031047C>T CCDC64B(NM_001103175.1):c.386G>A (p.(Arg129Gln)) - HCFC1R1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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