Full data view for gene CYP27B1

Information The variants shown are described using the NM_000785.3 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Template     

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Disease     

ID_report     

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Owner     
?/. - c.40C>T r.(?) p.(Arg14Cys) - Unknown - VUS g.58160785G>A - CYP27B1(NM_000785.4):c.40C>T (p.(Arg14Cys)) - CYP27B1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.41G>A r.(?) p.(Arg14His) - Unknown - VUS g.58160784C>T - CYP27B1(NM_000785.3):c.41G>A (p.R14H) - CYP27B1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.171dup r.(?) p.(Leu58AlafsTer275) - Unknown - pathogenic g.58160660dup g.57766877dup - - CYP27B1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.335C>T r.(?) p.(Pro112Leu) - Unknown - pathogenic g.58159841G>A g.57766058G>A CYP27B1(NM_000785.4):c.335C>T (p.P112L) - CYP27B1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.496G>C r.(?) p.(Val166Leu) - Unknown - likely benign g.58159173C>G g.57765390C>G CYP27B1(NM_000785.3):c.496G>C (p.(Val166Leu)) - CYP27B1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.541G>T r.(?) p.(Ala181Ser) - Unknown - likely benign g.58159128C>A g.57765345C>A CYP27B1(NM_000785.3):c.541G>T (p.A181S) - CYP27B1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.581G>A r.(?) p.(Gly194Glu) - Unknown - VUS g.58159088C>T - CYP27B1(NM_000785.4):c.581G>A (p.(Gly194Glu), p.G194E) - CYP27B1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.581G>A r.(?) p.(Gly194Glu) - Unknown - VUS g.58159088C>T - CYP27B1(NM_000785.4):c.581G>A (p.(Gly194Glu), p.G194E) - CYP27B1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.648C>T r.(?) p.(Pro216=) - Unknown - VUS g.58158936G>A - CYP27B1(NM_000785.3):c.648C>T (p.P216=) - CYP27B1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.913C>T r.(?) p.(Gln305*) - Unknown - VUS g.58158587G>A - CYP27B1(NM_000785.4):c.913C>T (p.(Gln305*)) - CYP27B1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.974C>T r.(?) p.(Thr325Met) - Both (homozygous) ACMG likely pathogenic (recessive) g.58158323G>A g.57764540G>A - - CYP27B1_000017 (ACMG PM2, PP3, PP4) PubMed: Jacob 2023, PubMed: Jacob 2025 SCV002059959.1 - Germline - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia Pat1;? PubMed: Jacob 2023, PubMed: Jacob 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes India - - - - - 1 Johan den Dunnen
-?/. - c.1057C>G r.(?) p.(Pro353Ala) - Unknown - likely benign g.58158240G>C - CYP27B1(NM_000785.3):c.1057C>G (p.P353A) - CYP27B1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1116G>A r.(?) p.(Ala372=) - Unknown - likely benign g.58158181C>T - CYP27B1(NM_000785.3):c.1116G>A (p.A372=) - CYP27B1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1166G>A r.(?) p.(Arg389His) - Unknown - VUS g.58157930C>T g.57764147C>T CYP27B1(NM_000785.3):c.1166G>A (p.R389H), CYP27B1(NM_000785.4):c.1166G>A (p.R389H) - CYP27B1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1166G>A r.(?) p.(Arg389His) - Unknown - pathogenic g.58157930C>T g.57764147C>T CYP27B1(NM_000785.3):c.1166G>A (p.R389H), CYP27B1(NM_000785.4):c.1166G>A (p.R389H) - CYP27B1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1285C>T r.(?) p.(Arg429Cys) - Unknown - VUS g.58157522G>A - CYP27B1(NM_000785.4):c.1285C>T (p.(Arg429Cys)) - CYP27B1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1319_1325dup r.(?) p.(Phe443ProfsTer24) - Both (homozygous) ACMG pathogenic (recessive) g.58157489_58157495dup g.57763706_57763712dup - - CYP27B1_000018 ACMG PVS1, PM2, PP3, PP4, PP5 PubMed: Jacob 2023, PubMed: Jacob 2025 SCV002059960.1 - Germline - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia Pat2;? PubMed: Jacob 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - 1 Johan den Dunnen
+/. - c.1319_1325dup r.(?) p.(Phe443ProfsTer24) - Paternal (confirmed) ACMG pathogenic (recessive) g.58157489_58157495dup g.57763706_57763712dup - - CYP27B1_000018 ACMG PVS1, PM2, PP3, PP4, PP5 PubMed: Jacob 2023, PubMed: Jacob 2025 SCV002059960.1 - Germline - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia Pat3;? PubMed: Jacob 2023, PubMed: Jacob 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - 1 Johan den Dunnen
+?/. - c.1376G>A r.(?) p.(Arg459His) - Maternal (confirmed) ACMG likely pathogenic (recessive) g.58157431C>T g.57763648C>T - - CYP27B1_000019 ACMG PVS1, PM2, PP3, PP4, PP5 PubMed: Jacob 2023, PubMed: Jacob 2025 SCV002507194.1 - Germline - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia Pat3;? PubMed: Jacob 2023, PubMed: Jacob 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - 1 Johan den Dunnen
+/. - c.1474C>T r.(?) p.(Arg492Trp) - Unknown - pathogenic g.58156978G>A - CYP27B1(NM_000785.4):c.1474C>T (p.R492W) - CYP27B1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1499G>A r.(?) p.(Ser500Asn) - Unknown - likely benign g.58156953C>T - CYP27B1(NM_000785.3):c.1499G>A (p.S500N) - CYP27B1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1505A>G r.(?) p.(Asn502Ser) - Unknown - likely benign g.58156947T>C - CYP27B1(NM_000785.3):c.1505A>G (p.N502S) - CYP27B1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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