All variants in the STUB1 gene

Information The variants shown are described using the NM_005861.2 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.-4145A>G r.(?) p.(=) - likely benign g.726381A>G g.676381A>G RHBDL1(NM_001278720.1):c.85A>G (p.T29A) - RHBDL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-3483A>C r.(?) p.(=) - VUS g.727043A>C g.677043A>C RHBDL1(NM_001278720.1):c.499A>C (p.(Lys167Gln)) - RHBDL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-2874T>G r.(?) p.(=) - VUS g.727652T>G - RHBDL1(NM_001318733.1):c.998T>G (p.M333R) - JMJD8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1A>G r.(?) p.(Met1?) - VUS g.730526A>G g.680526A>G STUB1(NM_005861.3):c.1A>G (p.M1?) - STUB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.3G>A r.(?) p.0? - likely pathogenic g.730528G>A g.680528G>A Met1? - STUB1_000007 - - - - Unknown - - - - - IMGAG
?/. - c.107T>C r.(?) p.(Leu36Pro) - VUS g.730632T>C g.680632T>C STUB1(NM_005861.3):c.107T>C (p.L36P) - JMJD8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.107T>C r.(?) p.(Leu36Pro) - VUS g.730632T>C - STUB1(NM_005861.3):c.107T>C (p.L36P) - JMJD8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.134C>G r.(?) p.(Ala45Gly) - VUS g.730659C>G - STUB1(NM_005861.4):c.134C>G (p.A45G) - JMJD8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.143G>A r.(?) p.(Cys48Tyr) - VUS g.730668G>A - STUB1(NM_005861.4):c.143G>A (p.(Cys48Tyr)) - JMJD8_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.146A>G r.(?) p.(Tyr49Cys) - VUS g.730671A>G g.680671A>G STUB1(NM_005861.3):c.146A>G (p.Y49C), STUB1(NM_005861.4):c.146A>G (p.Y49C) - JMJD8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.146A>G r.(?) p.(Tyr49Cys) - likely pathogenic g.730671A>G g.680671A>G STUB1(NM_005861.3):c.146A>G (p.Y49C), STUB1(NM_005861.4):c.146A>G (p.Y49C) - JMJD8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.146A>G r.(?) p.(Tyr49Cys) - likely pathogenic g.730671A>G - STUB1(NM_005861.3):c.146A>G (p.Y49C), STUB1(NM_005861.4):c.146A>G (p.Y49C) - JMJD8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1i c.160-2A>G r.spl p.? ACMG likely pathogenic (recessive) g.731150A>G g.681150A>G - - STUB1_000010 - - - - Germline yes - - - - Marketa Wayhelova
?/. - c.169C>T r.(?) p.(Pro57Ser) ACMG VUS g.731161C>T - - - STUB1_000009 ACMG PM1, PM2, PP2; The patient's clinical phenotype shares a number of features with previous reports for this gene, notably onset of prominent ataxia in the second decade, with myoclonus and cognitive impairment. The parents are related, consistent with the ultra-rare variant being homozygous. It is therefore with high confidence that we expand the STUB phenotype to PME. PubMed: Courage 2021, Journal: Courage 2021 - - Germline - - - - - Carolina Courage
?/. - c.196C>T r.(?) p.(Arg66Trp) - VUS g.731188C>T g.681188C>T STUB1(NM_005861.3):c.196C>T (p.R66W) - STUB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.220C>T r.(?) p.(Gln74*) - likely pathogenic g.731212C>T - - - JMJD8_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.259C>G r.(?) p.(Leu87Val) - VUS g.731251C>G - STUB1(NM_005861.4):c.259C>G (p.L87V) - JMJD8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.326G>A r.(?) p.(Ser109Asn) - likely benign g.731318G>A g.681318G>A STUB1(NM_005861.2):c.326G>A (p.(Ser109Asn)), STUB1(NM_005861.3):c.326G>A (p.S109N), STUB1(NM_005861.4):c.326G>A (p.S109N) - STUB1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.326G>A r.(?) p.(Ser109Asn) - likely benign g.731318G>A g.681318G>A STUB1(NM_005861.2):c.326G>A (p.(Ser109Asn)), STUB1(NM_005861.3):c.326G>A (p.S109N), STUB1(NM_005861.4):c.326G>A (p.S109N) - STUB1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.326G>A r.(?) p.(Ser109Asn) - likely benign g.731318G>A - STUB1(NM_005861.2):c.326G>A (p.(Ser109Asn)), STUB1(NM_005861.3):c.326G>A (p.S109N), STUB1(NM_005861.4):c.326G>A (p.S109N) - STUB1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.402C>T r.(?) p.(Asp134=) - likely benign g.731481C>T g.681481C>T STUB1(NM_001293197.1):c.186C>T (p.D62=) - JMJD8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.419G>A r.(?) p.(Arg140Gln) - VUS g.731498G>A g.681498G>A STUB1(NM_001293197.1):c.203G>A (p.R68Q) - STUB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.433A>C r.(?) p.(Lys145Gln) - VUS g.731512A>C g.681512A>C STUB1(NM_005861.2):c.433A>C (p.(Lys145Gln)), STUB1(NM_005861.3):c.433A>C (p.K145Q) - STUB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.433A>C r.(?) p.(Lys145Gln) - VUS g.731512A>C g.681512A>C STUB1(NM_005861.2):c.433A>C (p.(Lys145Gln)), STUB1(NM_005861.3):c.433A>C (p.K145Q) - STUB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.433A>C r.(?) p.(Lys145Gln) - VUS g.731512A>C - STUB1(NM_005861.2):c.433A>C (p.(Lys145Gln)), STUB1(NM_005861.3):c.433A>C (p.K145Q) - STUB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.433A>C r.(?) p.(Lys145Gln) - pathogenic g.731512A>C - - - STUB1_000005 - - - rs146251364 CLASSIFICATION record - - - - - MobiDetails
?/. - c.433_435del r.(?) p.(Lys145del) - VUS g.731512_731514del - STUB1(NM_001293197.1):c.217_219delAAG (p.K73del), STUB1(NM_005861.2):c.433_435delAAG (p.(Lys145del)), STUB1(NM_005861.4):c.433_435delAAG (p.K145del) - JMJD8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.433_435del r.(?) p.(Lys145del) - VUS g.731512_731514del - STUB1(NM_001293197.1):c.217_219delAAG (p.K73del), STUB1(NM_005861.2):c.433_435delAAG (p.(Lys145del)), STUB1(NM_005861.4):c.433_435delAAG (p.K145del) - JMJD8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.433_435del r.(?) p.(Lys145del) - VUS g.731512_731514del - STUB1(NM_001293197.1):c.217_219delAAG (p.K73del), STUB1(NM_005861.2):c.433_435delAAG (p.(Lys145del)), STUB1(NM_005861.4):c.433_435delAAG (p.K145del) - JMJD8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.458G>A r.(?) p.(Arg153Gln) - likely benign g.731537G>A - STUB1(NM_005861.2):c.458G>A (p.(Arg153Gln)) - JMJD8_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.477C>T r.(?) p.(Ser159=) - likely benign g.731556C>T - STUB1(NM_001293197.1):c.261C>T (p.S87=) - JMJD8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.513G>A r.(?) p.(Ala171=) - likely benign g.731592G>A - STUB1(NM_001293197.1):c.297G>A (p.A99=) - JMJD8_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.516G>A r.(?) p.(Glu172=) - likely benign g.731595G>A g.681595G>A STUB1(NM_001293197.1):c.300G>A (p.E100=) - JMJD8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.544C>T r.(?) p.(Arg182*) - pathogenic g.731812C>T - - - JMJD8_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.564_566del r.(?) p.(Glu188del) - VUS g.731832_731834del - STUB1(NM_001293197.1):c.348_350delGGA (p.E116del) - JMJD8_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.577G>A r.(?) p.(Val193Ile) - likely benign g.731845G>A g.681845G>A STUB1(NM_001293197.1):c.361G>A (p.V121I) - JMJD8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.580C>T r.(?) p.(Arg194Trp) - VUS g.731848C>T g.681848C>T STUB1(NM_001293197.1):c.364C>T (p.R122W) - JMJD8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.642T>C r.(?) p.(Leu214=) - likely benign g.732049T>C g.682049T>C STUB1(NM_001293197.1):c.426T>C (p.L142=), STUB1(NM_005861.4):c.642T>C (p.L214=) - JMJD8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.642T>C r.(?) p.(Leu214=) - benign g.732049T>C - STUB1(NM_001293197.1):c.426T>C (p.L142=), STUB1(NM_005861.4):c.642T>C (p.L214=) - JMJD8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.646dup r.(?) p.(Ser216Phefs*5) - pathogenic g.732053dup g.682053dup 646dupT - STUB1_000006 - - - - Germline/De novo (untested) - - - - - IMGAG
?/. - c.669+4_669+6del r.spl? p.? - VUS g.732080_732082del - STUB1(NM_001293197.1):c.453+4_453+6delAGT - JMJD8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.689_692del r.(?) p.(Tyr230CysfsTer9) - pathogenic g.732182_732185del - - - STUB1_000008 - - - - Unknown - - - - - IMGAG
?/. - c.721C>T r.(?) p.(Arg241Trp) - VUS g.732216C>T - - - JMJD8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.722G>C r.(?) p.(Arg241Pro) - VUS g.732217G>C g.682217G>C - - JMJD8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.760C>G r.(?) p.(Arg254Gly) - pathogenic g.732255C>G g.682255C>G - - STUB1_000011 - PubMed: Salinas 2020 SUB7797619 - Unknown - - - - - Johan den Dunnen
?/. - c.786G>C r.(?) p.(Gln262His) - VUS g.732281G>C - - - JMJD8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.786+8del r.(=) p.(=) - benign g.732289del - STUB1(NM_005861.4):c.786+8delC - JMJD8_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.791_792del r.(?) p.(Val264Glyfs*4) - likely pathogenic g.732368_732369del - - - JMJD8_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.815G>A r.(?) p.(Arg272Gln) - VUS g.732392G>A - - - JMJD8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.823C>G r.(?) p.(Leu275Val) - pathogenic g.732400C>G - STUB1(NM_005861.4):c.823C>G (p.(Leu275Val)) - JMJD8_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.831G>A r.(?) p.(Gln277=) - likely benign g.732408G>A g.682408G>A STUB1(NM_001293197.1):c.615G>A (p.Q205=) - JMJD8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.841A>T r.(?) p.(Ile281Phe) - VUS g.732418A>T g.682418A>T STUB1(NM_005861.3):c.841A>T (p.I281F) - JMJD8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.854C>A r.(?) p.(Ala285Asp) - pathogenic g.732431C>A g.682431C>A - - STUB1_000012 - PubMed: Salinas 2020 RCV000310020.1 - Unknown - - - - - Johan den Dunnen
?/. - c.874G>A r.(?) p.(Ala292Thr) - VUS g.732451G>A - - - JMJD8_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.874_875del r.(?) p.(Ala292IlefsTer4) - VUS g.732451_732452del g.682451_682452del STUB1(NM_001293197.2):c.658_659delGC (p.A220Ifs*4) - JMJD8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*310C>T r.(=) p.(=) - VUS g.732799C>T - STUB1(NM_005861.4):c.*310C>T - JMJD8_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*501G>A r.(=) p.(=) - VUS g.732990G>A g.682990G>A JMJD8(NM_001323918.2):c.677C>T (p.S226F) - JMJD8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*1764C>T r.(=) p.(=) - likely benign g.734253C>T g.684253C>T JMJD8(NM_001323918.2):c.67G>A (p.A23T) - JMJD8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3092G>A r.(=) p.(=) - VUS g.735581G>A - WDR24(NM_032259.4):c.1695C>T (p.(Cys565=)) - JMJD8_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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