Full data view for gene VDR

Information The variants shown are described using the NM_000376.2 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.-1172A>G r.(?) p.(=) Unknown - benign g.48299826T>C - VDR(NM_000376.3):c.-1172A>G - VDR_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-84+180G>T r.(=) p.(=) Unknown - VUS g.48298558C>A - VDR(NM_001017536.2):c.-145G>T - VDR_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-84+5022C>A r.(=) p.(=) Unknown - benign g.48293716G>T - - - VDR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-84+5133G>C r.(=) p.(=) Unknown - benign g.48293605C>G - - - VDR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-83-7715C>A r.(=) p.(=) Unknown - VUS g.48284272G>T g.47890489G>T - - VDR_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-83-7715C>A r.(=) p.(=) Both (homozygous) - VUS g.48284272G>T g.47890489G>T - - VDR_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-83-7708C>T r.(=) p.(=) Unknown - VUS g.48284265G>A g.47890482G>A - - VDR_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-83-7591C>T r.(=) p.(=) Both (homozygous) - VUS g.48284148G>A g.47890365G>A - - VDR_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-83-7591C>T r.(=) p.(=) Unknown - VUS g.48284148G>A g.47890365G>A - - VDR_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-83-7569C>T r.(=) p.(=) Both (homozygous) - VUS g.48284126G>A g.47890343G>A - - VDR_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-83-7569C>T r.(=) p.(=) Unknown - VUS g.48284126G>A g.47890343G>A - - VDR_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-83-7199C>A r.(=) p.(=) Both (homozygous) - VUS g.48283756G>T g.47889973G>T - - VDR_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-83-7199C>A r.(=) p.(=) Both (homozygous) - VUS g.48283756G>T g.47889973G>T - - VDR_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.2T>C r.(?) p.(Met1?) Unknown - benign g.48272895A>G g.47879112A>G VDR(NM_000376.3):c.2T>C (p.(Met1?)), VDR(NM_001017535.1):c.2T>C (p.M1?), VDR(NM_001017535.2):c.2T>C (p.M1?) - VDR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2T>C r.(?) p.(Met1?) Unknown - benign g.48272895A>G g.47879112A>G VDR(NM_000376.3):c.2T>C (p.(Met1?)), VDR(NM_001017535.1):c.2T>C (p.M1?), VDR(NM_001017535.2):c.2T>C (p.M1?) - VDR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2T>C r.(?) p.(Met1?) Unknown - VUS g.48272895A>G g.47879112A>G - - VDR_000011 for details see the Uveogene database PubMed: Zakraoui 2012 - rs10735810 Germline - 140/312 cases - - - DNA arraySNP Blood - Behcet - PubMed: Zakraoui 2012 Iranian cohort F;M - Iran Iranian - - for details see the Uveogene database - 140 Peizeng Yang
-/. - c.2T>C r.(?) p.(Met1?) Unknown - benign g.48272895A>G - VDR(NM_000376.3):c.2T>C (p.(Met1?)), VDR(NM_001017535.1):c.2T>C (p.M1?), VDR(NM_001017535.2):c.2T>C (p.M1?) - VDR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2T>C r.(?) p.(Met1?) Unknown - benign g.48272895A>G - VDR(NM_000376.3):c.2T>C (p.(Met1?)), VDR(NM_001017535.1):c.2T>C (p.M1?), VDR(NM_001017535.2):c.2T>C (p.M1?) - VDR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.86A>G r.(?) p.(Asp29Gly) Unknown - VUS g.48272811T>C - VDR(NM_000376.2):c.86A>G (p.(Asp29Gly)) - VDR_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.89G>A r.(?) p.(Arg30Gln) Unknown - likely benign g.48272808C>T - VDR(NM_000376.2):c.89G>A (p.(Arg30Gln)) - VDR_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.118A>G r.(?) p.(Thr40Ala) Unknown - VUS g.48272779T>C - VDR(NM_000376.3):c.118A>G (p.(Thr40Ala)) - VDR_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.133A>G r.(?) p.(Lys45Glu) Unknown - likely pathogenic g.48272764T>C g.47878981T>C - - VDR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146+6C>T r.(=) p.(=) Unknown - likely benign g.48272745G>A - VDR(NM_000376.3):c.146+6C>T - VDR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146+8C>T r.(=) p.(=) Unknown - likely benign g.48272743G>A - VDR(NM_000376.3):c.146+8C>T - VDR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146+9dup r.(=) p.(=) Unknown - likely benign g.48272742dup - VDR(NM_000376.3):c.146+9dup - VDR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.146+122C>T r.(?) p.(=) Parent #2 - benign g.48272629G>A - - - VDR_000024 - PubMed: Gazdagh 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Gazdagh 2019 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.149G>A r.(?) p.(Arg50Gln) Unknown - VUS g.48258958C>T - VDR(NM_000376.2):c.149G>A (p.(Arg50Gln)) - VDR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.217C>T r.(?) p.(Arg73Ter) Unknown - pathogenic g.48258890G>A g.47865107G>A - - VDR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.239G>A r.(?) p.(Arg80Gln) Parent #1 - pathogenic g.48258868C>T g.47865085C>T - - VDR_000019 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121909793 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.597G>A r.(?) p.(Ser199=) Unknown - likely benign g.48249571C>T g.47855788C>T VDR(NM_001017536.1):c.747G>A (p.S249=) - VDR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.632A>G r.(?) p.(Asp211Gly) Unknown - VUS g.48249536T>C - VDR(NM_000376.3):c.632A>G (p.(Asp211Gly)) - VDR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.642C>G r.(?) p.(Asp214Glu) Unknown - VUS g.48249526G>C - VDR(NM_000376.3):c.642C>G (p.(Asp214Glu)) - VDR_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.683C>A r.(?) p.(Pro228His) Unknown - VUS g.48249485G>T g.47855702G>T VDR(NM_001017536.2):c.833C>A (p.P278H) - VDR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.890T>C r.(?) p.(Val297Ala) Unknown - VUS g.48240457A>G - VDR(NM_000376.2):c.890T>C (p.(Val297Ala)) - VDR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909C>T r.(?) p.(Ala303=) Unknown - likely benign g.48240233G>A - VDR(NM_001017535.1):c.909C>T (p.A303=) - VDR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.933G>A r.(?) p.(Glu311=) Unknown - likely benign g.48240209C>T g.47846426C>T VDR(NM_001017536.2):c.1083G>A (p.E361=) - VDR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1016T>C r.(?) p.(Val339Ala) Unknown - VUS g.48240126A>G - VDR(NM_000376.3):c.1016T>C (p.(Val339Ala)) - VDR_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1025-49G>T r.(=) p.(=) Unknown - benign g.48238837C>A - VDR(NM_000376.3):c.1025-49G>T, VDR(NM_001017535.1):c.1025-49G>T - VDR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1025-49G>T r.(=) p.(=) Unknown - benign g.48238837C>A - VDR(NM_000376.3):c.1025-49G>T, VDR(NM_001017535.1):c.1025-49G>T - VDR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1056T>C r.(?) p.(Ile352=) Unknown - benign g.48238757A>G g.47844974A>G VDR(NM_001017536.2):c.1206T>C (p.I402=) - VDR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1056T>C r.(?) p.(Ile352=) Unknown - benign g.48238757A>G g.47844974A>G VDR(NM_001017536.2):c.1206T>C (p.I402=) - VDR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1073G>A r.(?) p.(Arg358His) Unknown - likely benign g.48238740C>T - VDR(NM_001017535.1):c.1073G>A (p.R358H) - VDR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1102C>T r.(?) p.(Arg368Cys) Parent #1 - likely benign g.48238711G>A - - - VDR_000023 - PubMed: Gazdagh 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Gazdagh 2019 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.1102C>T r.(?) p.(Arg368Cys) Unknown - VUS g.48238711G>A - VDR(NM_000376.3):c.1102C>T (p.(Arg368Cys)) - VDR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1109G>A r.(?) p.(Arg370His) Unknown - likely benign g.48238704C>T g.47844921C>T VDR(NM_001017536.1):c.1259G>A (p.R420H) - VDR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1121C>T r.(?) p.(Pro374Leu) Unknown - VUS g.48238692G>A - VDR(NM_000376.2):c.1121C>T (p.(Pro374Leu)) - VDR_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1201T>C r.(?) p.(Tyr401His) Unknown - likely pathogenic g.48238612A>G - - - VDR_000038 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1226T>C r.(=) p.(=) Parent #1 - likely benign g.48237303A>G g.47843520A>G - - VDR_000018 89 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11574129 Germline - 89/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 89 Mohammed Faruq
-?/. - c.*1226T>C r.(=) p.(=) Both (homozygous) - likely benign g.48237303A>G g.47843520A>G - - VDR_000018 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11574129 Germline - 4/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.*1420T>C r.(=) p.(=) Parent #1 - VUS g.48237109A>G g.47843326A>G - - VDR_000017 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56382517 Germline - 10/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
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