Full data view for gene EXOSC3

Information The variants shown are described using the NM_016042.3 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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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.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.37785041T>C - EXOSC3(NM_016042.3):c.1A>G (p.M1?) - EXOSC3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3G>T r.(?) p.(Met1?) Unknown - likely pathogenic g.37785039C>A g.37785042C>A EXOSC3(NM_016042.3):c.3G>T (p.M1?) - EXOSC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.92G>C r.(?) p.(Gly31Ala) Parent #1 - likely pathogenic g.37784950C>G g.37784953C>G - - EXOSC3_000002 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - DdeI+;AvaI- - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - Czech 8m - - - 1 Johan den Dunnen
+?/. 1 c.92G>C r.(?) p.(Gly31Ala) Parent #1 - likely pathogenic g.37784950C>G g.37784953C>G - - EXOSC3_000002 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - DdeI+;AvaI- - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - F no - Czech 8m - - - 1 Johan den Dunnen
+?/. 1 c.92G>C r.(?) p.(Gly31Ala) Both (homozygous) - likely pathogenic g.37784950C>G g.37784953C>G - - EXOSC3_000002 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - DdeI+;AvaI- - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - Czech 17m - - - 1 Johan den Dunnen
+?/. - c.92G>C r.(?) p.(Gly31Ala) Both (homozygous) - likely pathogenic g.37784950C>G g.37784953C>G g.5140G>C - EXOSC3_000002 - - - - Germline - - - - - DNA SEQ-NG-I blood - PCH CCM248 - - F - Croatia (Hrvatska) - 00y14m - - - 1 Enza Maria Valente
+/. - c.92G>C r.(?) p.(Gly31Ala) Both (homozygous) ACMG pathogenic g.37784950C>G g.37784953C>G - - EXOSC3_000002 ACMG: PS4, PM3, PP3_MOD, PS3_SUP, PM2_SUP, PP1; Wan et al. 2012. Nat Genet 44: 704; Schwabova et al. 2013. J Neurogene 27: 163; Eggens et al. 2014. Orphanet J Rare 9: 23 - - rs387907196 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
-?/. - c.219C>A r.(?) p.(Arg73=) Unknown - likely benign g.37784823G>T - EXOSC3(NM_016042.3):c.219C>A (p.R73=) - EXOSC3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.238G>T r.(?) p.(Val80Phe) Unknown - likely pathogenic g.37784804C>A g.37784807C>A EXOSC3(NM_016042.4):c.238G>T (p.V80F) - EXOSC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.238G>T r.(?) p.(Val80Phe) Parent #1 - likely pathogenic g.37784804C>A g.37784807C>A - - EXOSC3_000008 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs374550999 Germline - 5/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.247T>G r.(?) p.(Cys83Gly) Unknown - VUS g.37784795A>C - EXOSC3(NM_016042.4):c.247T>G (p.(Cys83Gly)) - EXOSC3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.294_303del r.(?) p.(Val99Trpfs*11) Parent #1 - likely pathogenic g.37784741_37784750del g.37784744_37784753del p.99fs*11 - EXOSC3_000004 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012, PubMed: Ryan 2000 - - Germline yes - FauI+;BsrI- - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - New Caledonian >3m - - - 1 Johan den Dunnen
+?/. - c.294_303del r.(?) p.(Val99Trpfs*11) Unknown - pathogenic g.37784741_37784750del g.37784744_37784753del - - EXOSC3_000004 - - - - Germline - - - - - DNA SEQ-NG-I blood - PCH CCM422 - - M - Italy - 00y02m - - - 1 Enza Maria Valente
+?/. - c.312_313del r.(?) p.(Gln105Alafs*19) Unknown - likely pathogenic g.37784732_37784733del - EXOSC3(NM_016042.4):c.312_313del (p.(Gln105Alafs*19)) - EXOSC3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - American, European 18y - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - American, European - - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - American, European 16y - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - American, European - - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012, PubMed: Salman 2003 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - F no - Canadian, Cuban 3y4m - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012, PubMed: Salman 2003 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - F yes - German, Turkish - - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012, PubMed: Salman 2003 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M yes - German, Turkish - - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Parent #2 - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012, PubMed: Ryan 2000 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - New Caledonian >3m - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Parent #2 - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - F no - Australian 2y2m - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M yes - Australian, Turkish 3y - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Parent #2 - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012, PubMed: Ryan 2000 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - Australian 11m - - - 1 Johan den Dunnen
+/. - c.395A>C r.(?) p.(Asp132Ala) Unknown - pathogenic g.37783990T>G g.37783993T>G EXOSC3(NM_016042.3):c.395A>C (p.D132A), EXOSC3(NM_016042.4):c.395A>C (p.(Asp132Ala), p.D132A) - EXOSC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.395A>C r.(?) p.(Asp132Ala) Unknown - pathogenic g.37783990T>G g.37783993T>G EXOSC3(NM_016042.3):c.395A>C (p.D132A), EXOSC3(NM_016042.4):c.395A>C (p.(Asp132Ala), p.D132A) - EXOSC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.395A>C r.(?) p.(Asp132Ala) Unknown - pathogenic g.37783990T>G g.37783993T>G g.6100A>C - EXOSC3_000001 - - - - Germline - - - - - DNA SEQ-NG-I blood - PCH CCM220 - - M - Italy - 02y - - - 1 Enza Maria Valente
+?/. - c.395A>C r.(?) p.(Asp132Ala) Unknown - pathogenic g.37783990T>G g.37783993T>G g.6100A>C - EXOSC3_000001 - - - - Germline - - - - - DNA SEQ-NG-I blood - PCH CCM422 - - M - Italy - 00y02m - - - 1 Enza Maria Valente
+?/. - c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - pathogenic g.37783990T>G g.37783993T>G g.6100A>C - EXOSC3_000001 - - - - Germline - - - - - DNA SEQ-NG-I blood - PCH BR2 - - F - - - 09y - - - 1 Enza Maria Valente
+?/. - c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - pathogenic g.37783990T>G g.37783993T>G g.6100A>C - EXOSC3_000001 - - - - Germline - - - - - DNA SEQ-NG-I blood - PCH CCM565 - - F - Spain - 04y - - - 1 Enza Maria Valente
+/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1614 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.395A>C r.(?) p.(Asp132Ala) Unknown - pathogenic g.37783990T>G - EXOSC3(NM_016042.3):c.395A>C (p.D132A), EXOSC3(NM_016042.4):c.395A>C (p.(Asp132Ala), p.D132A) - EXOSC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.415G>C r.(?) p.(Ala139Pro) Parent #1 - likely pathogenic g.37783970C>G g.37783973C>G - - EXOSC3_000006 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012, PubMed: Ryan 2000 - - Germline yes - CspCI+;AluI- - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - Australian 11m - - - 1 Johan den Dunnen
+?/. - c.428_431del r.(?) p.(Tyr143CysfsTer59) Unknown - likely pathogenic g.37783957_37783960del g.37783960_37783963del EXOSC3(NM_001002269.2):c.428_431del (p.(Tyr143CysfsTer82)) - EXOSC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.430T>C r.(?) p.(Leu144=) Unknown - likely benign g.37783955A>G g.37783958A>G EXOSC3(NM_016042.3):c.430T>C (p.L144=), EXOSC3(NM_016042.4):c.430T>C (p.L144=) - EXOSC3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.430T>C r.(?) p.(Leu144=) Unknown - likely benign g.37783955A>G - EXOSC3(NM_016042.3):c.430T>C (p.L144=), EXOSC3(NM_016042.4):c.430T>C (p.L144=) - EXOSC3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.474+186A>G r.(=) p.(=) Unknown - likely benign g.37783725T>C - EXOSC3(NM_016042.4):c.474+186A>G - EXOSC3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2i c.475-12A>G r.475_626del p.(Val159Alafs*7) Parent #1 - likely pathogenic g.37782146T>C g.37782149T>C - - EXOSC3_000005 Exon 3 skipping with frame shift; also aberrant splicing (incorporation of 11 nucleotides upstream of the normal splice site, introduction of a new splice acceptor site); not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - F no - Australian 2y2m - - - 1 Johan den Dunnen
-/. - c.498G>A r.(?) p.(Gln166=) Unknown - benign g.37782111C>T g.37782114C>T EXOSC3(NM_016042.4):c.498G>A (p.Q166=) - EXOSC3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.498G>A r.(?) p.(Gln166=) Unknown - benign g.37782111C>T g.37782114C>T EXOSC3(NM_016042.4):c.498G>A (p.Q166=) - EXOSC3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.545A>T r.(?) p.(Asp182Val) Unknown - likely pathogenic g.37782064T>A g.37782067T>A g.8026A>T - EXOSC3_000012 - - - - Germline - - - - - DNA SEQ-NG-I blood - PCH CCM220 - - M - Italy - 02y - - - 1 Enza Maria Valente
-?/. - c.588T>C r.(?) p.(Asp196=) Unknown - likely benign g.37782021A>G - EXOSC3(NM_016042.3):c.588T>C (p.D196=) - EXOSC3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.596_597insAAGCC r.(?) p.(Phe200Serfs*5) Unknown - VUS g.37782012_37782013insGGCTT - EXOSC3(NM_016042.3):c.596_597insAAGCC (p.F200Sfs*5) - EXOSC3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.709A>C r.(?) p.(Ile237Leu) Unknown - VUS g.37780795T>G - EXOSC3(NM_016042.3):c.709A>C (p.I237L) - EXOSC3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.712T>C r.(?) p.(Trp238Arg) Parent #2 - likely pathogenic g.37780792A>G g.37780795A>G - - EXOSC3_000003 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - Czech 8m - - - 1 Johan den Dunnen
+?/. 4 c.712T>C r.(?) p.(Trp238Arg) Parent #2 - likely pathogenic g.37780792A>G g.37780795A>G - - EXOSC3_000003 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - F no - Czech 8m - - - 1 Johan den Dunnen
-?/. - c.785C>T r.(?) p.(Ser262Leu) Unknown - likely benign g.37780719G>A - EXOSC3(NM_016042.3):c.785C>T (p.S262L) - EXOSC3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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