Full data view for gene SETX

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_015046.5 transcript reference sequence.

585 entries on 6 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6     Next › Last »

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     
-/. 1i c.-115+82G>A r.(=) p.(=) Parent #1 - benign g.135230222C>T g.132354835C>T - - SETX_000118 c.-115+82G>A laut Alamut - - rs3739917 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. 1i c.-115+204C>T r.(=) p.(=) Parent #1 - benign g.135230100G>A g.132354713G>A - - SETX_000117 c.-115+204C>T laut Alamut - - rs517076 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.-8+18dup r.(=) p.(=) Unknown - likely benign g.135229028dup g.132353641dup SETX(NM_015046.7):c.-8+18dupT - SETX_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-8+20G>A r.(=) p.(=) Unknown - VUS g.135229016C>T g.132353629C>T - - SETX_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_26_ c.(?_-1)_(*1_?)del r.0 p.0 Parent #2 - pathogenic g.(?_135139625)_(135224816_?)del - - - SETX_000000 - PubMed: Moreira 2004 - - Germline - - - - - DNA SEQ - - SCAN2;SCAR1;AOA2 - PubMed: Moreira 2004 - - - France - - - - - 1 Johan den Dunnen
+/. 3 c.8C>T r.(?) p.(Thr3Ile) Unknown - pathogenic g.135224808G>A g.132349421G>A - - SETX_000086 - PubMed: Chen 2004, OMIM:var0007 - rs28941475 Germline - - - - - DNA SEQ - - ALS4 - PubMed: Chen 2004 - - - - - - - - - 1 Johan den Dunnen
+/. - c.8C>T r.(?) p.(Thr3Ile) Unknown - pathogenic g.135224808G>A g.132349421G>A SETX(NM_015046.7):c.8C>T (p.T3I) - SETX_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9A>G r.(?) p.(Thr3=) Unknown - likely benign g.135224807T>C g.132349420T>C SETX(NM_015046.7):c.9A>G (p.T3=) - SETX_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.15_17del r.(?) p.(Cys5del) Parent #2 - pathogenic (recessive) g.135224804_135224806del g.132349417_132349419del NM_001351527.1:c.15_17delTTG - SETX_000345 - PubMed: Salinas 2020 SUB7801092 - Germline - - - - - DNA SEQ-NG - gene panel ? Pat30 PubMed: Salinas 2020 patient F - - - - - - - 1 Johan den Dunnen
+/. - c.15_17del r.(?) p.(Cys5del) Parent #2 - pathogenic (recessive) g.135224804_135224806del g.132349417_132349419del NM_001351527.1:c.15_17delTTG - SETX_000345 - PubMed: Salinas 2020 SUB7801092 - Germline - - - - - DNA SEQ-NG - gene panel ? Pat31 PubMed: Salinas 2020 patient M - - - - - - - 1 Johan den Dunnen
-/. - c.59G>A r.(?) p.(Arg20His) Unknown - benign g.135224757C>T g.132349370C>T SETX(NM_015046.5):c.59G>A (p.R20H), SETX(NM_015046.7):c.59G>A (p.R20H) - SETX_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.59G>A r.(?) p.(Arg20His) Unknown - benign g.135224757C>T g.132349370C>T SETX(NM_015046.5):c.59G>A (p.R20H), SETX(NM_015046.7):c.59G>A (p.R20H) - SETX_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.59G>A r.(?) p.(Arg20His) Unknown - benign g.135224757C>T g.132349370C>T SETX(NM_015046.5):c.59G>A (p.R20H), SETX(NM_015046.7):c.59G>A (p.R20H) - SETX_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.59G>A r.(?) p.(Arg20His) Unknown - benign g.135224757C>T g.132349370C>T SETX(NM_015046.5):c.59G>A (p.R20H), SETX(NM_015046.7):c.59G>A (p.R20H) - SETX_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.59G>A r.(?) p.(Arg20His) Parent #1 - likely benign g.135224757C>T g.132349370C>T - - SETX_000210 63 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79740039 Germline - 63/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 63 Mohammed Faruq
-?/. - c.59G>A r.(?) p.(Arg20His) Both (homozygous) - likely benign g.135224757C>T g.132349370C>T - - SETX_000210 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79740039 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.77C>T r.(?) p.(Pro26Leu) Unknown - likely benign g.135224739G>A g.132349352G>A SETX(NM_015046.5):c.77C>T (p.P26L) - SETX_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.80C>T r.(?) p.(Ser27Phe) Unknown - likely benign g.135224736G>A g.132349349G>A SETX(NM_015046.7):c.80C>T (p.S27F) - SETX_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.81C>T r.(?) p.(Ser27=) Unknown - likely benign g.135224735G>A - SETX(NM_015046.7):c.81C>T (p.S27=) - SETX_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.177+125del r.(=) p.(=) Unknown - benign g.135224524del g.132349137del SETX(NM_015046.5):c.177+125delT - SETX_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.192A>G r.(?) p.(Leu64=) Unknown - likely benign g.135221844T>C g.132346457T>C SETX(NM_015046.7):c.192A>G (p.L64=) - SETX_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.193G>A r.(?) p.(Glu65Lys) Unknown - pathogenic g.135221843C>T g.132346456C>T - - SETX_000020 - PubMed: Duquette 2005 - - Germline - - - - - DNA SEQ - - ? - PubMed: Duquette 2005 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.343_345del r.(?) p.(Leu115del) Unknown - pathogenic g.135221695_135221697del g.132346308_132346310del 340delCTT - SETX_000001 - PubMed: Airoldi 2010, OMIM:var0014 - - Germline - - - - - DNA SEQ - - SCAN2;SCAR1;AOA2 - PubMed: Airoldi 2010 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.377A>G r.(?) p.(His126Arg) Unknown - likely benign g.135221659T>C g.132346272T>C SETX(NM_015046.7):c.377A>G (p.H126R) - SETX_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4i c.388+51C>T r.(=) p.(=) Parent #1 - benign g.135221597G>A g.132346210G>A - - SETX_000115 - - - rs497650 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. 4i c.388+51C>T r.(?) p.(=) Parent #1 - benign g.135221597G>A g.132346210G>A - - SETX_000115 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.388+69A>C r.(=) p.(=) Unknown - benign g.135221579T>G g.132346192T>G SETX(NM_015046.5):c.388+69A>C - SETX_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4i c.389-157T>C r.(=) p.(=) Parent #1 - benign g.135218343A>G g.132342956A>G - - SETX_000114 - - - rs514279 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. 4i c.389-142C>A r.(=) p.(=) Parent #1 - benign g.135218328G>T g.132342941G>T - - SETX_000113 - - - rs13294324 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.472T>G r.(?) p.(Leu158Val) Unknown - VUS g.135218103A>C g.132342716A>C SETX(NM_015046.5):c.472T>G (p.L158V), SETX(NM_015046.7):c.472T>G (p.L158V) - SETX_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.472T>G r.(?) p.(Leu158Val) Unknown - likely benign g.135218103A>C g.132342716A>C SETX(NM_015046.5):c.472T>G (p.L158V), SETX(NM_015046.7):c.472T>G (p.L158V) - SETX_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.472T>G r.(?) p.(Leu158Val) Unknown - benign g.135218103A>C g.132342716A>C SETX(NM_015046.5):c.472T>G (p.L158V), SETX(NM_015046.7):c.472T>G (p.L158V) - SETX_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.472T>G r.(?) p.(Leu158Val) Parent #1 - VUS g.135218103A>C g.132342716A>C - - SETX_000262 conflicting interpretations of pathogenicity; 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145438764 Germline - 19/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 19 Mohammed Faruq
-?/. - c.472T>G r.(?) p.(Leu158Val) Unknown - likely benign g.135218103A>C - SETX(NM_015046.5):c.472T>G (p.L158V), SETX(NM_015046.7):c.472T>G (p.L158V) - SETX_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.498+14T>C r.(=) p.(=) Unknown - likely benign g.135218063A>G g.132342676A>G SETX(NM_015046.7):c.498+14T>C - SETX_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.498+20G>A r.(=) p.(=) Unknown - benign g.135218057C>T g.132342670C>T SETX(NM_015046.5):c.498+20G>A, SETX(NM_015046.7):c.498+20G>A - SETX_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.498+20G>A r.(=) p.(=) Unknown - benign g.135218057C>T g.132342670C>T SETX(NM_015046.5):c.498+20G>A, SETX(NM_015046.7):c.498+20G>A - SETX_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.498+20G>A r.(=) p.(=) Unknown - benign g.135218057C>T g.132342670C>T SETX(NM_015046.5):c.498+20G>A, SETX(NM_015046.7):c.498+20G>A - SETX_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.498+20G>A r.(=) p.(=) Unknown - benign g.135218057C>T g.132342670C>T SETX(NM_015046.5):c.498+20G>A, SETX(NM_015046.7):c.498+20G>A - SETX_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.498+30T>C r.(=) p.(=) Parent #1 - benign g.135218047A>G g.132342660A>G - - SETX_000112 - - - rs11790312 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 5i_10 c.498+2992_1432del r.spl? p.? Unknown - pathogenic g.135205556_135215088del g.132330169_132339701del - - SETX_000110 - - - - Germline - - - - - DNA SEQ, SEQ-NG-I - - SCAN2;SCAR1;AOA2 - ATX163 - M no France - - - - - 1 Claire Guissart
-?/. - c.499-8G>T r.(=) p.(=) Unknown - likely benign g.135211910C>A - SETX(NM_001351527.2):c.499-8G>T - SETX_000342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.499-1G>C r.spl? p.? Unknown - likely pathogenic g.135211903C>G - SETX(NM_001351527.1):c.499-1G>C - SETX_000331 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.502C>T r.(?) p.(Arg168Trp) Parent #1 - likely pathogenic g.135211899G>A g.132336512G>A - - SETX_000308 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2642 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.625G>A r.(?) p.(Asp209Asn) Unknown - VUS g.135211776C>T g.132336389C>T SETX(NM_015046.5):c.625G>A (p.D209N) - SETX_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.632A>G r.(?) p.(Tyr211Cys) Unknown - VUS g.135211769T>C - SETX(NM_001351527.2):c.632A>G (p.Y211C) - SETX_000347 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.654G>C r.(?) p.(Lys218Asn) Unknown - VUS g.135211747C>G g.132336360C>G SETX(NM_001351527.2):c.654G>C (p.K218N), SETX(NM_015046.5):c.654G>C (p.K218N), SETX(NM_015046.7):c.654G>C (p.K218N) - SETX_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.654G>C r.(?) p.(Lys218Asn) Unknown - likely benign g.135211747C>G g.132336360C>G SETX(NM_001351527.2):c.654G>C (p.K218N), SETX(NM_015046.5):c.654G>C (p.K218N), SETX(NM_015046.7):c.654G>C (p.K218N) - SETX_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.654G>C r.(?) p.(Lys218Asn) Unknown - VUS g.135211747C>G g.132336360C>G SETX(NM_001351527.2):c.654G>C (p.K218N), SETX(NM_015046.5):c.654G>C (p.K218N), SETX(NM_015046.7):c.654G>C (p.K218N) - SETX_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.680A>T r.(?) p.(His227Leu) Unknown - VUS g.135211721T>A - - - SETX_000315 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.710A>G r.(?) p.Tyr237Cys Unknown ACMG VUS g.135211691T>C g.132336304T>C - - SETX_000214 ACMG grading: PP3,PM2 - - rs138538492 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
-?/. - c.717A>G r.(?) p.(Leu239=) Unknown - likely benign g.135211684T>C g.132336297T>C SETX(NM_015046.5):c.717A>G (p.(=)), SETX(NM_015046.7):c.717A>G (p.L239=) - SETX_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.717A>G r.(?) p.(Leu239=) Unknown - likely benign g.135211684T>C g.132336297T>C SETX(NM_015046.5):c.717A>G (p.(=)), SETX(NM_015046.7):c.717A>G (p.L239=) - SETX_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6i c.718+1G>A r.spl p.? Both (homozygous) - likely pathogenic g.135211682C>T g.132336295C>T - - SETX_000307 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2844 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-/. 6i c.718+72_718+73del r.(=) p.(=) Parent #1 - benign g.135211611_135211612del g.132336224_132336225del - - SETX_000111 - - - rs10573812 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 6i_10i c.(718+1_719-1)_(5274+1_5275-1)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(135187244_135201710)_(135210115_135211682)del g.(132311857_132326323)_(132334728_132336295)del del ex7-10 - SETX_000337 - - - - Germline - - - - - DNA SEQ-NG-I peripheral blood WES ataxia - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. 6i_10i c.(718+1_719-1)_(5274+1_5275-1)dup r.? p.? Unknown - pathogenic g.(135187244_135201710)_(135210115_135211682)dup - - - SETX_000119 tandem duplication of coding exons 5 to 8 - - - Germline - - - - - DNA SEQ, SEQ-NG-I - - SCAN2;SCAR1;AOA2 - ATX95 - F - France - - - - - 1 Claire Guissart
-?/. - c.768G>T r.(?) p.(Leu256=) Unknown - likely benign g.135210065C>A g.132334678C>A SETX(NM_015046.5):c.768G>T (p.L256=) - SETX_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.794A>G r.(?) p.(Asp265Gly) Unknown - likely benign g.135210039T>C g.132334652T>C SETX(NM_015046.7):c.794A>G (p.D265G) - SETX_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.822G>H r.(?) p.(Met274Ile) Both (homozygous) - VUS g.135210011C>D g.132334624C>D - - SETX_000085 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Asaka 2006, OMIM:var0011 - - Germline yes - - - - DNA SEQ - - SCAN2;SCAR1;AOA2 - PubMed: Asaka 2006 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents/sibs M yes Japan - - - - - 2 Johan den Dunnen
-?/. - c.831A>T r.(?) p.(Glu277Asp) Unknown - likely benign g.135210002T>A g.132334615T>A SETX(NM_015046.5):c.831A>T (p.E277D) - SETX_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.879del r.(?) p.(Phe293Leufs*3) Parent #1 - pathogenic g.135206798del g.132331411del - - SETX_000018 - PubMed: Moreira 2004 - - Germline - - - - - DNA SEQ - - SCAN2;SCAR1;AOA2 - PubMed: Moreira 2004 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.896G>T r.(?) p.(Arg299Leu) Unknown - VUS g.135206778C>A - SETX(NM_001351527.1):c.896G>T (p.R299L) - SETX_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.900T>C r.(?) p.(Leu300=) Unknown - likely benign g.135206774A>G g.132331387A>G SETX(NM_001351527.1):c.900T>C (p.L300=) - SETX_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.915G>T r.(?) p.(Trp305Cys) Both (homozygous) - pathogenic g.135206759C>A g.132331372C>A - - SETX_000002 not in 300 control chromosomes PubMed: Moreira 2004 - - Germline - - - - - DNA SEQ - - SCAN2;SCAR1;AOA2 - PubMed: Moreira 2004 - - - Algeria - - - - - 1 Johan den Dunnen
+/. 8 c.932C>T r.(?) p.(Pro311Leu) Unknown - pathogenic g.135206742G>A g.132331355G>A - - SETX_000087 - PubMed: Bernard 2008 - - Germline - - - - - DNA SEQ - - SCAN2;SCAR1;AOA2 - PubMed: Bernard 2008 - - - - - - - - - 1 Johan den Dunnen
?/. - c.968G>A r.(?) p.(Ser323Asn) Unknown - VUS g.135206706C>T g.132331319C>T SETX(NM_015046.5):c.968G>A (p.S323N), SETX(NM_015046.7):c.968G>A (p.S323N) - SETX_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.968G>A r.(?) p.(Ser323Asn) Unknown - VUS g.135206706C>T - SETX(NM_015046.5):c.968G>A (p.S323N), SETX(NM_015046.7):c.968G>A (p.S323N) - SETX_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.992T>C r.(?) p.(Ile331Thr) Unknown - VUS g.135206682A>G g.132331295A>G SETX(NM_015046.7):c.992T>C (p.I331T) - SETX_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.994C>T r.(?) p.(Arg332Trp) Parent #1 - pathogenic g.135206680G>A g.132331293G>A - - SETX_000007 not in 300 control chromosomes {PMIDMoreira 2004:14770181}, OMIM:var0005 - rs29001665 Germline - - - - - DNA SEQ - - SCAN2;SCAR1;AOA2 - PubMed: Moreira 2004 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.994C>T r.(?) p.(Arg332Trp) Unknown ACMG likely pathogenic (recessive) g.135206680G>A - - - SETX_000007 ACMG: PM1, PM3, PS4_SUP, PM2_SUP, PP1 PMID: 14770181, 24814856 VCV000002288.2 rs29001665 Germline ? - - - - DNA SEQ-NG-I - - SCAN2;SCAR1;AOA2 169715 - - F no Germany - - - - - 1 Andreas Laner
?/. - c.995G>A r.(?) p.(Arg332Gln) Unknown - VUS g.135206679C>T g.132331292C>T SETX(NM_015046.5):c.995G>A (p.R332Q) - SETX_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1010+14A>C r.(=) p.(=) Unknown - likely benign g.135206650T>G g.132331263T>G SETX(NM_015046.5):c.1010+14A>C - SETX_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026G>A r.(?) p.(Pro342=) Unknown - likely benign g.135206511C>T - SETX(NM_015046.7):c.1026G>A (p.P342=) - SETX_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1027G>T r.(?) p.(Glu343*) Unknown - pathogenic g.135206510C>A g.132331123C>A - - SETX_000039 - PubMed: Anheim 2008, OMIM:var0013 - - Germline - - - - - DNA SEQ - - SCAN2;SCAR1;AOA2 - PubMed: Anheim 2008 - - - - - - - - - 1 Johan den Dunnen
-/. 9 c.1077T>C r.(=) p.(=) Parent #1 - benign g.135206460A>G g.132331073A>G - - SETX_000040 - - - rs9411449 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. 9 c.1077T>C r.(?) p.(=) Unknown - benign g.135206460A>G g.132331073A>G - - SETX_000040 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - - - - - - - 1 Madhuri Hegde
-/. - c.1077T>C r.(?) p.(Tyr359=) Unknown - benign g.135206460A>G g.132331073A>G SETX(NM_015046.5):c.1077T>C (p.Y359=), SETX(NM_015046.7):c.1077T>C (p.Y359=) - SETX_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077T>C r.(?) p.(Tyr359=) Unknown - benign g.135206460A>G g.132331073A>G SETX(NM_015046.5):c.1077T>C (p.Y359=), SETX(NM_015046.7):c.1077T>C (p.Y359=) - SETX_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077T>C r.(?) p.(Tyr359=) Unknown - benign g.135206460A>G g.132331073A>G SETX(NM_015046.5):c.1077T>C (p.Y359=), SETX(NM_015046.7):c.1077T>C (p.Y359=) - SETX_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077T>C r.(?) p.(Tyr359=) Unknown - benign g.135206460A>G g.132331073A>G SETX(NM_015046.5):c.1077T>C (p.Y359=), SETX(NM_015046.7):c.1077T>C (p.Y359=) - SETX_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077T>C r.(?) p.(Tyr359=) Unknown - benign g.135206460A>G g.132331073A>G SETX(NM_015046.5):c.1077T>C (p.Y359=), SETX(NM_015046.7):c.1077T>C (p.Y359=) - SETX_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077T>C r.(?) p.(Tyr359=) Unknown - benign g.135206460A>G g.132331073A>G SETX(NM_015046.5):c.1077T>C (p.Y359=), SETX(NM_015046.7):c.1077T>C (p.Y359=) - SETX_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1081C>T r.(?) p.(Pro361Ser) Unknown - likely benign g.135206456G>A g.132331069G>A SETX(NM_015046.7):c.1081C>T (p.P361S) - SETX_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1099-7A>G r.(=) p.(=) Unknown - likely benign g.135205893T>C g.132330506T>C SETX(NM_015046.5):c.1099-7A>G - SETX_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1103C>G r.(?) p.(Ser368Cys) Unknown - VUS g.135205882G>C g.132330495G>C SETX(NM_015046.5):c.1103C>G (p.S368C) - SETX_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1153G>T r.(?) p.(Glu385*) Unknown - pathogenic g.135205832C>A g.132330445C>A - - SETX_000041 - PubMed: Nakamura 2009 - - Germline - - - - - DNA SEQ - - SCAN2;SCAR1;AOA2 - PubMed: Nakamura 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.1166T>C r.(?) p.(Leu389Ser) Unknown - pathogenic g.135205819A>G g.132330432A>G - - SETX_000042 - PubMed: Chen 2004, OMIM:var0006 - rs29001584 Germline - - - - - DNA SEQ - - ALS4 - PubMed: Chen 2004 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1166T>C r.(?) p.(Leu389Ser) Unknown - pathogenic g.135205819A>G g.132330432A>G SETX(NM_015046.7):c.1166T>C (p.L389S) - SETX_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1221A>G r.(?) p.(=) Unknown - likely benign g.135205764T>C - SETX(NM_015046.7):c.1221A>G (p.T407=) - SETX_000332 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1227A>G r.(?) p.(Leu409=) Unknown - likely benign g.135205758T>C - SETX(NM_001351527.1):c.1227A>G (p.L409=) - SETX_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1238C>T r.(?) p.(Pro413Leu) Both (homozygous) - pathogenic g.135205747G>A g.132330360G>A - - SETX_000016 not in 300 control chromosomes PubMed: Moreira 2004 - - Germline - - - - - DNA SEQ - - SCAN2;SCAR1;AOA2 - PubMed: Moreira 2004 family, 2 affecteds - - Tunisia - - - - - 2 Johan den Dunnen
+/. 10 c.1304A>G r.(?) p.(His435Arg) Unknown - pathogenic g.135205681T>C g.132330294T>C - - SETX_000043 - PubMed: Fogel 2006 - - Germline - - - - - DNA SEQ - - SCAN2;SCAR1;AOA2 - PubMed: Fogel 2006 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1391C>T r.(?) p.(Ser464Leu) Unknown - VUS g.135205594G>A g.132330207G>A SETX(NM_015046.7):c.1391C>T (p.S464L) - SETX_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1464C>T r.(?) p.(Ala488=) Unknown - likely benign g.135205521G>A g.132330134G>A SETX(NM_015046.7):c.1464C>T (p.A488=) - SETX_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1474T>G r.(?) p.(Cys492Gly) Unknown - VUS g.135205511A>C g.132330124A>C SETX(NM_015046.5):c.1474T>G (p.C492G) - SETX_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1504C>T r.(?) p.(Arg502Trp) Unknown - VUS g.135205481G>A g.132330094G>A SETX(NM_015046.5):c.1504C>T (p.R502W) - SETX_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.1504C>T r.(?) p.(Arg502Trp) Both (homozygous) - VUS g.135205481G>A g.132330094G>A - - SETX_000171 - - ClinVar-RCV000143813.1 rs534723946 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1738 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.1626C>T r.(?) p.(Leu542=) Unknown - likely benign g.135205359G>A - SETX(NM_001351527.1):c.1626C>T (p.L542=), SETX(NM_001351527.2):c.1626C>T (p.L542=) - SETX_000314 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1626C>T r.(?) p.(Leu542=) Unknown - likely benign g.135205359G>A - SETX(NM_001351527.1):c.1626C>T (p.L542=), SETX(NM_001351527.2):c.1626C>T (p.L542=) - SETX_000314 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.