Full data view for gene ADSL

Information The variants shown are described using the NM_000026.2 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.5C>T r.(?) p.(Ala2Val) Parent #1 - pathogenic g.40742567C>T g.40346563C>T - - ADSL_000023 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143083947 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.27G>T r.(?) p.(Ser9=) Unknown - likely benign g.40742589G>T g.40346585G>T ADSL(NM_001363840.1):c.27G>T (p.S9=) - ADSL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.76A>T r.(?) p.(Met26Leu) Paternal (confirmed) ACMG likely pathogenic g.40742638A>T g.40346634A>T - - ADSL_000015 co-segregation with disease in affected sister, index and parents were analyzed in a trio.; reported in PMID: 10090474 - - - Germline yes - - - - DNA SEQ-NG-I - - DD 128850 - sister (MGZ# 128851) also affected M ? Germany - - - - - 1 Andreas Laner
-/. - c.124C>T r.(?) p.(Leu42=) Unknown - benign g.40742686C>T g.40346682C>T ADSL(NM_000026.4):c.124C>T (p.L42=) - ADSL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.143A>G r.(?) p.(Glu48Gly) Unknown - VUS g.40742705A>G g.40346701A>G ADSL(NM_000026.2):c.143A>G (p.(Glu48Gly)) - ADSL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.216C>T r.(?) p.(Ile72=) Unknown - benign g.40745898C>T g.40349894C>T ADSL(NM_000026.3):c.216C>T (p.I72=) - ADSL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.340T>C r.(?) p.(Tyr114His) Parent #1 ACMG pathogenic g.40746022T>C g.40350018T>C - - ADSL_000013 - PubMed: TumienÄ— 2018 - - Germline - - - - - DNA SEQ-NG - WES ? 29286531-Pat31 PubMed: TumienÄ— 2018 - - - (Slovenia) - - - - - 1 Johan den Dunnen
+/. - c.340T>C r.(?) p.(Tyr114His) Maternal (confirmed) ACMG pathogenic (recessive) g.40746022T>C - - - ADSL_000013 ACMG: PS3, PS4, PM3, PP3 PMID: 10888601, 18524658, 20127976, 22180458 VCV000204807.10 - Germline ? - - - - DNA SEQ-NG-I - - ADLSD 183667 - - F no Germany - - - - - 1 Andreas Laner
-?/. - c.357+7G>A r.(=) p.(=) Unknown - likely benign g.40746046G>A g.40350042G>A ADSL(NM_000026.3):c.357+7G>A, ADSL(NM_000026.4):c.357+7G>A - ADSL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357+7G>A r.(=) p.(=) Unknown - likely benign g.40746046G>A - ADSL(NM_000026.3):c.357+7G>A, ADSL(NM_000026.4):c.357+7G>A - ADSL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357+7G>A r.(=) p.(=) Unknown - likely benign g.40746046G>A - ADSL(NM_000026.3):c.357+7G>A, ADSL(NM_000026.4):c.357+7G>A - ADSL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357+7G>T r.(=) p.(=) Unknown - likely benign g.40746046G>T g.40350042G>T ADSL(NM_000026.3):c.357+7G>T, ADSL(NM_000026.4):c.357+7G>T - ADSL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357+7G>T r.(=) p.(=) Unknown - likely benign g.40746046G>T - ADSL(NM_000026.3):c.357+7G>T, ADSL(NM_000026.4):c.357+7G>T - ADSL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.358-5C>T r.spl? p.? Unknown - likely benign g.40749072C>T - ADSL(NM_000026.4):c.358-5C>T - ADSL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.358-4G>A r.spl? p.? Unknown - likely benign g.40749073G>A g.40353069G>A ADSL(NM_000026.4):c.358-4G>A - ADSL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.421C>T r.(?) p.(Arg141Trp) Parent #2 ACMG pathogenic g.40750270C>T g.40354266C>T - - ADSL_000014 - PubMed: TumienÄ— 2018 - - Germline - - - - - DNA SEQ-NG - WES ? 29286531-Pat31 PubMed: TumienÄ— 2018 - - - (Slovenia) - - - - - 1 Johan den Dunnen
+?/. - c.421C>T r.(?) p.(Arg141Trp) Unknown ACMG likely pathogenic g.40750270C>T - - - ADSL_000014 - - - rs756210458 Unknown - - - - - DNA SEQ-NG - - SIDS SIDS038 - - M - Switzerland Europe 00y04m - - - 1 Cordula Haas
-?/. - c.440A>T r.(?) p.(Lys147Met) Unknown - likely benign g.40750289A>T g.40354285A>T ADSL(NM_000026.4):c.440A>T (p.K147M) - ADSL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.440A>T r.(?) p.(Lys147Met) Unknown - benign g.40750289A>T g.40354285A>T ADSL(NM_000026.4):c.440A>T (p.K147M) - ADSL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.449C>G r.(?) p.(Ala150Gly) Paternal (confirmed) ACMG VUS (!) g.40750298C>G - - - ADSL_000032 ACMG: PM2_SUP, PM3_SUP, PP3 - - - Germline ? - - - - DNA SEQ-NG-I - - ADLSD 183667 - - F no Germany - - - - - 1 Andreas Laner
?/. 5 c.502G>A r.(?) p.(Val168Ile) Both (homozygous) - VUS g.40754887G>A g.40358883G>A - - ADSL_000030 - PubMed: Ganapathy 2019 - rs1385675650 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1710 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.569G>A r.(?) p.(Arg190Gln) Parent #1 - VUS g.40754954G>A g.40358950G>A - - ADSL_000024 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28941471 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.616G>T r.(?) p.(Ala206Ser) Parent #1 - VUS g.40755001G>T g.40358997G>T - - ADSL_000025 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148411623 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.702-7T>C r.(=) p.(=) Unknown - likely benign g.40756399T>C g.40360395T>C ADSL(NM_000026.4):c.702-7T>C - ADSL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.793-7C>A r.(=) p.(=) Unknown - VUS g.40757270C>A g.40361266C>A ADSL(NM_000026.2):c.793-7C>A (p.(=)) - ADSL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.802G>A r.(?) p.(Asp268Asn) Both (homozygous) ACMG likely pathogenic (recessive) g.40757286G>A g.40361282G>A - - ADSL_000034 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8600562 PubMed: Hu 2019 family, 3 affected individuals, second cousin parents - yes Iran Persia - - - - 3 Johan den Dunnen
-?/. - c.862+13T>C r.(=) p.(=) Unknown - likely benign g.40757359T>C g.40361355T>C ADSL(NM_000026.4):c.862+13T>C - ADSL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.887G>A r.(?) p.(Arg296Gln) Unknown - VUS g.40757516G>A - ADSL(NM_000026.3):c.887G>A (p.R296Q) - ADSL_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.907C>T r.(?) p.(Arg303Cys) Unknown - pathogenic g.40757536C>T g.40361532C>T ADSL(NM_000026.4):c.907C>T (p.R303C) - ADSL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925C>T r.(?) p.(Arg309Cys) Unknown - VUS g.40757554C>T - ADSL(NM_000026.4):c.925C>T (p.(Arg309Cys)) - ADSL_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1010+18A>G r.(=) p.(=) Unknown - benign g.40757657A>G g.40361653A>G ADSL(NM_000026.4):c.1010+18A>G - ADSL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1010+18A>G r.(=) p.(=) Unknown - likely benign g.40757657A>G g.40361653A>G ADSL(NM_000026.4):c.1010+18A>G - ADSL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1011-9G>C r.(=) p.(=) Unknown - benign g.40758976G>C g.40362972G>C ADSL(NM_000026.4):c.1011-9G>C - ADSL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1061C>T r.(?) p.(Thr354Met) Unknown - VUS g.40759035C>T - ADSL(NM_000026.3):c.1061C>T (p.T354M) - ADSL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1101+158T>C r.(=) p.(=) Unknown - benign g.40759233T>C g.40363229T>C ADSL(NM_000026.4):c.1101+158T>C - ADSL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1120C>T r.(?) p.(Arg374Trp) Unknown - VUS g.40760298C>T - ADSL(NM_000026.3):c.1120C>T (p.R374W) - ADSL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1128G>C r.(?) p.(Glu376Asp) Parent #1 - pathogenic g.40760306G>C g.40364302G>C - - ADSL_000026 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796052247 Germline - 2/2775 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/. - c.1187G>A r.(?) p.(Arg396His) Maternal (confirmed) ACMG likely pathogenic g.40760365G>A g.40364361G>A - - ADSL_000016 reported in PMID: 12368987, PMID: 19405474 - - rs763542069 Germline - - - - - DNA SEQ-NG-I - - DD 128850 - sister (MGZ# 128851) also affected M ? Germany - - - - - 1 Andreas Laner
-?/. - c.1191+183T>C r.(=) p.(=) Unknown - likely benign g.40760552T>C g.40364548T>C ADSL(NM_000026.4):c.1191+183T>C - ADSL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1277G>A r.(?) p.(Arg426His) Unknown - pathogenic g.40760969G>A g.40364965G>A ADSL(NM_001363840.1):c.1277G>A (p.R426H), ADSL(NM_001363840.3):c.1277G>A (p.R426H) - ADSL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1277G>A r.(?) p.(Arg426His) Unknown - pathogenic g.40760969G>A - ADSL(NM_001363840.1):c.1277G>A (p.R426H), ADSL(NM_001363840.3):c.1277G>A (p.R426H) - ADSL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1277G>A r.(?) p.(Arg426His) Unknown - pathogenic g.40760969G>A - ADSL(NM_001363840.1):c.1277G>A (p.R426H), ADSL(NM_001363840.3):c.1277G>A (p.R426H) - ADSL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1277G>A r.(?) p.(Arg426His) Parent #1 - likely pathogenic g.40760969G>A g.40364965G>A - - ADSL_000021 - PubMed: Srivastava 2014 - - Germline - - - - - DNA SEQ-NG - WES ? Pat48 PubMed: Srivastava 2014 - - - United States - - - - - 1 Johan den Dunnen
+/. 12 c.1288G>A r.(?) p.(Asp430Asn) Both (homozygous) - pathogenic g.40760980G>A g.40364976G>A NM_000026: c.G1288A; p.D430N - ADSL_000001 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB5023 PubMed: Karaca 2015 - - - - - - - family structure in paper - 3 Johan den Dunnen
+?/. - c.1288G>A r.(?) p.(Asp430Asn) Parent #2 - likely pathogenic g.40760980G>A g.40364976G>A - - ADSL_000001 - PubMed: Srivastava 2014 - - Germline - - - - - DNA SEQ-NG - WES ? Pat48 PubMed: Srivastava 2014 - - - United States - - - - - 1 Johan den Dunnen
+?/. 12 c.1339T>C r.(?) p.(Ser447Pro) Unknown - likely pathogenic g.40761031T>C g.40365027T>C - - ADSL_000031 no variant 2nd chromosome PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5239 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.1343_1345del r.(?) p.(Ser448del) Unknown - VUS g.40761035_40761037del g.40365031_40365033del ADSL(NM_000026.4):c.1343_1345delCTT (p.S448del) - ADSL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1355G>A r.(?) p.(Arg452His) Unknown - VUS g.40761047G>A - ADSL(NM_000026.4):c.1355G>A (p.(Arg452His)) - ADSL_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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