Full data view for gene CYP27A1

Information The variants shown are described using the NM_000784.3 transcript reference sequence.

356 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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.-357dup r.(?) p.(=) - Unknown - benign g.219646549dup g.218781826dup CYP27A1(NM_000784.3):c.-357dupC - CYP27A1_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13G>T r.(?) p.(=) - Unknown - likely benign g.219646893G>T g.218782170G>T CYP27A1(NM_000784.3):c.-13G>T - CYP27A1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-6C>T r.(?) p.(=) - Unknown - benign g.219646900C>T g.218782177C>T CYP27A1(NM_000784.3):c.-6C>T - CYP27A1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.5dup r.(?) p.(Ala3CysfsTer178) - Unknown - pathogenic g.219646910dup g.218782187dup CYP27A1(NM_000784.3):c.5dupC (p.A3Cfs*178) - CYP27A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.5dup r.(?) p.(Ala3Cysfs*178) - Both (homozygous) - VUS g.219646910dup g.218782187dup c.5_6insC (p.A2AfsX179) - CYP27A1_000001 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Segev 1995 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 1 c.5dup r.(?) p.(Ala3Cysfs*178) - Both (homozygous) - VUS g.219646910dup g.218782187dup c.5_6insC (p.A2AfsX179) - CYP27A1_000001 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Verrips 2000 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 1 c.5dup r.(?) p.(Ala3Cysfs*178) - Parent #1 - VUS g.219646910dup g.218782187dup c.5_6insC (p.A2AfsX179) - CYP27A1_000001 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Verrips 2000 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 1 c.5dup r.(?) p.(Ala3Cysfs*178) - Parent #1 - VUS g.219646910dup g.218782187dup c.5_6insC (p.A2AfsX179) - CYP27A1_000001 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Verrips 2000 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 1 c.5dup r.(?) p.(Ala3Cysfs*178) - Parent #1 - VUS g.219646910dup g.218782187dup c.5_6insC (p.A2AfsX179) - CYP27A1_000001 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Verrips 2000 - - - - - - 0 - - 1 Jorge Amigo Lechuga
+/. - c.5dup r.(?) p.(Ala3CysfsTer178) - Unknown - pathogenic g.219646910dup - CYP27A1(NM_000784.3):c.5dupC (p.A3Cfs*178) - CYP27A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.11_20dup r.(?) p.(Arg8GlyfsTer176) - Unknown - pathogenic g.219646916_219646925dup - CYP27A1(NM_000784.3):c.11_20dupTGGGCTGCGC (p.R8Gfs*176) - CYP27A1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.11_21del r.(?) p.(Leu4Glnfs*173) - Unknown - VUS g.219646916_219646926del g.218782193_218782203del - - CYP27A1_000005 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Lee 2001 - - - - - - 0 - - 1 Jorge Amigo Lechuga
+/. - c.33G>A r.(?) p.(Trp11Ter) - Unknown - pathogenic g.219646938G>A g.218782215G>A CYP27A1(NM_000784.3):c.33G>A (p.W11*) - CYP27A1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.73del r.(?) p.(Ala25Profs*33) - Unknown - VUS g.219646978del g.218782255del - - CYP27A1_000060 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - {PMID 22018287: Tian 2011} - - - - - - 0 - - 1 Pablo Sierra
-?/. - c.75C>G r.(?) p.(Ala25=) - Unknown - likely benign g.219646980C>G - CYP27A1(NM_000784.3):c.75C>G (p.A25=) - CYP27A1_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.120C>T r.(?) p.(Ala40=) - Unknown - benign g.219647025C>T g.218782302C>T CYP27A1(NM_000784.3):c.120C>T (p.A40=) - CYP27A1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.145G>T r.(?) p.(Gly49Cys) - Unknown - VUS g.219647050G>T g.218782327G>T CYP27A1(NM_000784.3):c.145G>T (p.G49C) - CYP27A1_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.148G>A r.(?) p.(Val50Ile) - Unknown - VUS g.219647053G>A g.218782330G>A CYP27A1(NM_000784.3):c.148G>A (p.V50I) - CYP27A1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.151C>T r.(?) p.(Arg51Trp) - Unknown - VUS g.219647056C>T - CYP27A1(NM_000784.3):c.151C>T (p.R51W) - CYP27A1_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.168C>T r.(?) p.(Ser56=) - Unknown - likely benign g.219647073C>T - CYP27A1(NM_000784.3):c.168C>T (p.S56=) - CYP27A1_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.207_209del r.(?) p.(Phe70del) - Unknown - VUS g.219647112_219647114del - CYP27A1(NM_000784.3):c.207_209delCTT (p.F70del) - CYP27A1_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215T>A r.(?) p.(Leu72Gln) - Unknown - VUS g.219647120T>A g.218782397T>A CYP27A1(NM_000784.3):c.215T>A (p.L72Q) - CYP27A1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215T>A r.(?) p.(Leu72Gln) - Unknown - VUS g.219647120T>A - CYP27A1(NM_000784.3):c.215T>A (p.L72Q) - CYP27A1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.223C>G r.(?) p.(Gln75Glu) - Unknown - likely benign g.219647128C>G - CYP27A1(NM_000784.3):c.223C>G (p.Q75E) - CYP27A1_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231T>C r.(?) p.(Tyr77=) - Unknown - likely benign g.219647136T>C g.218782413T>C CYP27A1(NM_000784.3):c.231T>C (p.Y77=) - CYP27A1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.241C>A r.(?) p.(Leu81Met) - Unknown - VUS g.219647146C>A - CYP27A1(NM_000784.3):c.241C>A (p.L81M) - CYP27A1_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.243G>A r.(?) p.(Leu81=) - Unknown - benign g.219647148G>A g.218782425G>A CYP27A1(NM_000784.3):c.243G>A (p.L81=) - CYP27A1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.256-13T>C r.(=) p.(=) - Unknown - VUS g.219674287T>C g.218809564T>C CYP27A1(NM_000784.3):c.256-13T>C - CYP27A1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 1i c.256-1G>T r.spl? p.? - Parent #1 - likely pathogenic g.219674299G>T g.218809576G>T - - CYP27A1_000069 - - - - Unknown - - - 0 - RNA RT-PCR - - xanthomatosis, cerebrotendinous - - - - - - - - 0 - - 1 Susan V Smalley
-?/. - c.256G>A r.(?) p.(Val86Met) - Unknown - likely benign g.219674300G>A g.218809577G>A CYP27A1(NM_000784.3):c.256G>A (p.V86M) - CYP27A1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.273G>A r.(?) p.(Lys91=) - Unknown - likely benign g.219674317G>A g.218809594G>A CYP27A1(NM_000784.3):c.273G>A (p.K91=) - CYP27A1_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.276C>T r.(?) p.(Tyr92=) - Unknown - benign g.219674320C>T g.218809597C>T CYP27A1(NM_000784.3):c.276C>T (p.Y92=), CYP27A1(NM_000784.4):c.276C>T (p.Y92=) - CYP27A1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.276C>T r.(?) p.(Tyr92=) - Unknown - likely benign g.219674320C>T g.218809597C>T CYP27A1(NM_000784.3):c.276C>T (p.Y92=), CYP27A1(NM_000784.4):c.276C>T (p.Y92=) - CYP27A1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.276C>T r.(?) p.(Tyr92=) - Unknown - likely benign g.219674320C>T - CYP27A1(NM_000784.3):c.276C>T (p.Y92=), CYP27A1(NM_000784.4):c.276C>T (p.Y92=) - CYP27A1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.305del r.(?) p.(Pro102Leufs*5) - Both (homozygous) - VUS g.219674349del g.218809626del - - CYP27A1_000007 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Wang 2006 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.305del r.(?) p.(Pro102Leufs*5) - Unknown - VUS g.219674349del g.218809626del - - CYP27A1_000007 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - {PMID 21553098: Chen 2011} - - - - - - 0 - - 1 Pablo Sierra
?/. - c.323T>G r.(?) p.(Leu108Arg) - Unknown - VUS g.219674367T>G g.218809644T>G CYP27A1(NM_000784.3):c.323T>G (p.L108R) - CYP27A1_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.335C>T r.(?) p.(Pro112Leu) - Unknown - VUS g.219674379C>T g.218809656C>T CYP27A1(NM_000784.3):c.335C>T (p.P112L) - CYP27A1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.355C>T r.(?) p.(Arg119Trp) - Unknown - likely pathogenic g.219674399C>T - CYP27A1(NM_000784.3):c.355C>T (p.R119W) - CYP27A1_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.355del r.(?) p.(Arg119Glyfs*24) - Both (homozygous) - VUS g.219674399del g.218809676del Deletion of Cytosine 376 - CYP27A1_000008 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Leitersdorf 1994 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.355del r.(?) p.(Arg119Glyfs*24) - Both (homozygous) - VUS g.219674399del g.218809676del Deletion of Cytosine 376 - CYP27A1_000008 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Leitersdorf 1994 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.355del r.(?) p.(Arg119Glyfs*24) - Both (homozygous) - VUS g.219674399del g.218809676del Deletion of Cytosine 376 - CYP27A1_000008 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Leitersdorf 1994 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.355del r.(?) p.(Arg119Glyfs*24) - Both (homozygous) - VUS g.219674399del g.218809676del Deletion of Cytosine 376 - CYP27A1_000008 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Leitersdorf 1994 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.366C>A r.(?) p.(=) - Both (homozygous) - VUS g.219674410C>A g.218809687C>A - - CYP27A1_000009 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Kato 2003 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.373_379del r.(?) p.(Pro125Glyfs*16) - Unknown - VUS g.219674417_219674423del g.218809694_218809700del c.369_375delGTACCCA (p.K123KfsX19) - CYP27A1_000061 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - {PMID 22018287: Tian 2011} - - - - - - 0 - - 1 Pablo Sierra
+/. - c.379C>T r.(?) p.(Arg127Trp) - Unknown - pathogenic g.219674423C>T g.218809700C>T CYP27A1(NM_000784.3):c.379C>T (p.R127W) - CYP27A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.379C>T r.(?) p.(Arg127Trp) - Unknown - VUS g.219674423C>T g.218809700C>T - - CYP27A1_000010 - - - rs201114717 Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Verrips 1999 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.379C>T r.(?) p.(Arg127Trp) - Unknown - VUS g.219674423C>T g.218809700C>T - - CYP27A1_000010 - PubMed: Verrips 2000 - rs201114717 Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Verrips 2000 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.379C>T r.(?) p.(Arg127Trp) - Unknown - VUS g.219674423C>T g.218809700C>T - - CYP27A1_000010 - - - rs201114717 Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Lee 2001 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.380G>A r.(?) p.(Arg127Gln) - Unknown - VUS g.219674424G>A g.218809701G>A - - CYP27A1_000013 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Watts 1996 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.380G>A r.(?) p.(Arg127Gln) - Unknown - VUS g.219674424G>A g.218809701G>A - - CYP27A1_000013 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Verrips 2000 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.380G>A r.(?) p.(Arg127Gln) - Unknown - VUS g.219674424G>A g.218809701G>A - - CYP27A1_000013 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Lee 2001 - - - - - - 0 - - 1 Jorge Amigo Lechuga
+/. - c.398G>A r.(?) p.(Trp133Ter) - Unknown - pathogenic g.219674442G>A g.218809719G>A - - CYP27A1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.399G>A r.(?) p.(Trp133*) - Unknown - VUS g.219674443G>A g.218809720G>A - - CYP27A1_000016 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Lee 2001 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.409C>T r.(?) p.(Arg137Trp) - Both (homozygous) - VUS g.219674453C>T g.218809730C>T - - CYP27A1_000018 - - - rs72551312 Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Nakashima 1994 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.409C>T r.(?) p.(Arg137Trp) - Unknown - VUS g.219674453C>T g.218809730C>T - - CYP27A1_000018 - - - rs72551312 Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Lee 2001 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.409C>T r.(?) p.(Arg137Trp) - Unknown - VUS g.219674453C>T g.218809730C>T - - CYP27A1_000018 - - - rs72551312 Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Lee 2001 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2 c.409C>T r.(?) p.(Arg137Trp) - Unknown - VUS g.219674453C>T g.218809730C>T - - CYP27A1_000018 - - - rs72551312 Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - {PMID 21553098: Chen 2011} - - - - - - 0 - - 1 Pablo Sierra
+/. - c.410G>A r.(?) p.(Arg137Gln) - Unknown - pathogenic g.219674454G>A g.218809731G>A CYP27A1(NM_000784.3):c.410G>A (p.R137Q) - CYP27A1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.410G>A r.(?) p.(Arg137Gln) - Unknown - VUS g.219674454G>A g.218809731G>A CYP27A1(NM_000784.3):c.410G>A (p.R137Q) - CYP27A1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.410G>A r.(?) p.(Arg137Gln) - Unknown - VUS g.219674454G>A g.218809731G>A G-to-A mutation in exon 2 (R104Q) - CYP27A1_000058 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - {PMID 20558929: Nozue 2010} - - - - - - 0 - - 1 Pablo Sierra
+?/. - c.425T>C r.(?) p.(Leu142Pro) - Unknown - likely pathogenic g.219674469T>C g.218809746T>C CYP27A1(NM_000784.3):c.425T>C (p.L142P) - CYP27A1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.432T>C r.(?) p.(Tyr144=) - Unknown - benign g.219674476T>C g.218809753T>C CYP27A1(NM_000784.3):c.432T>C (p.Y144=) - CYP27A1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.432T>C r.(?) p.(Tyr144=) - Unknown - likely benign g.219674476T>C g.218809753T>C CYP27A1(NM_000784.3):c.432T>C (p.Y144=) - CYP27A1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.433G>A r.(?) p.(Gly145Arg) - Both (homozygous) - VUS g.219674477G>A g.218809754G>A - - CYP27A1_000054 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Federico 2010 - - - - - - 0 - - 1 Jorge Amigo Lechuga
+/? 2 c.434G>A r.(?) p.(Gly145Glu) - Unknown - pathogenic g.219674478G>A g.218809755G>A - - CYP27A1_000020 - - - rs72551313 Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Lamon-Fava 2002 - - - - - - 0 - - 1 Jorge Amigo Lechuga
-/. - c.438G>A r.(?) p.(Pro146=) - Unknown - benign g.219674482G>A g.218809759G>A CYP27A1(NM_000784.3):c.438G>A (p.P146=) - CYP27A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.438G>A r.(?) p.(Pro146=) - Unknown - benign g.219674482G>A g.218809759G>A CYP27A1(NM_000784.3):c.438G>A (p.P146=) - CYP27A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.438G>A r.(?) p.(=) - Unknown - VUS g.219674482G>A g.218809759G>A - - CYP27A1_000022 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Lamon-Fava 2002 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 2i c.446+1G>A r.spl? p.? - Unknown - VUS g.219674491G>A g.218809768G>A - - CYP27A1_000015 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Verrips 2000 - - - - - - 0 - - 1 Jorge Amigo Lechuga
+/. - c.446+6C>G r.(=) p.(=) - Unknown - pathogenic g.219674496C>G g.218809773C>G CYP27A1(NM_000784.3):c.446+6C>G - CYP27A1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.447-3C>T r.spl? p.? - Unknown - likely pathogenic g.219676942C>T g.218812219C>T CYP27A1(NM_000784.3):c.447-3C>T - CYP27A1_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.450A>G r.(?) p.(Glu150=) - Unknown - likely pathogenic g.219676948A>G g.218812225A>G CYP27A1(NM_000784.3):c.450A>G (p.E150=) - CYP27A1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.475C>T r.(?) p.(Gln159Ter) - Unknown - pathogenic g.219676973C>T g.218812250C>T CYP27A1(NM_000784.3):c.475C>T (p.Q159*) - CYP27A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.475C>T r.(?) p.(Gln159*) - Unknown - VUS g.219676973C>T g.218812250C>T - - CYP27A1_000023 - - - rs72551314 Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Verrips 1996 - - - - - - 0 - - 1 Jorge Amigo Lechuga
+/. - c.491G>A r.(?) p.(Arg164Gln) - Unknown - pathogenic g.219676989G>A g.218812266G>A CYP27A1(NM_000784.3):c.491G>A (p.R164Q) - CYP27A1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.491G>C r.(?) p.(Arg164Pro) - Unknown - pathogenic g.219676989G>C g.218812266G>C CYP27A1(NM_000784.3):c.491G>C (p.R164P) - CYP27A1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.491G>C r.(?) p.(Arg164Pro) - Unknown - VUS g.219676989G>C - CYP27A1(NM_000784.3):c.491G>C (p.R164P) - CYP27A1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.504A>T r.(?) p.(Pro168=) - Unknown - likely benign g.219677002A>T g.218812279A>T CYP27A1(NM_000784.3):c.504A>T (p.P168=) - CYP27A1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.506C>A r.(?) p.(Ala169Glu) - Unknown - VUS g.219677004C>A g.218812281C>A CYP27A1(NM_000784.3):c.506C>A (p.A169E) - CYP27A1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.506C>A r.(?) p.(Ala169Glu) - Unknown - likely benign g.219677004C>A g.218812281C>A CYP27A1(NM_000784.3):c.506C>A (p.A169E) - CYP27A1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.506C>T r.(?) p.(Ala169Val) - Unknown - benign g.219677004C>T g.218812281C>T CYP27A1(NM_000784.3):c.506C>T (p.A169V) - CYP27A1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.506C>T r.(?) p.(Ala169Val) - Unknown - likely benign g.219677004C>T g.218812281C>T CYP27A1(NM_000784.3):c.506C>T (p.A169V) - CYP27A1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.515C>A r.(?) p.(Ala172Glu) - Unknown - likely pathogenic g.219677013C>A g.218812290C>A CYP27A1(NM_000784.3):c.515C>A (p.A172E) - CYP27A1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.524C>T r.(?) p.(Thr175Met) - Unknown - likely benign g.219677022C>T g.218812299C>T CYP27A1(NM_000784.3):c.524C>T (p.T175M) - CYP27A1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.524C>T r.(?) p.(Thr175Met) - Unknown - benign g.219677022C>T g.218812299C>T CYP27A1(NM_000784.3):c.524C>T (p.T175M) - CYP27A1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.525G>A r.(?) p.(Thr175=) - Unknown - benign g.219677023G>A g.218812300G>A CYP27A1(NM_000784.3):c.525G>A (p.T175=) - CYP27A1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.526del r.(?) p.(Asp176Metfs*6) - Both (homozygous) - VUS g.219677024del g.218812301del (cDNA) 546/547 G deletion leading to a frameshift / c.525-526delG (p.T175TfsX7) - CYP27A1_000024 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Verrips 1996 - - - - - - 0 - - 1 Jorge Amigo Lechuga
+?/. - c.536A>G r.(?) p.(Asn179Ser) - Unknown - likely pathogenic g.219677034A>G g.218812311A>G CYP27A1(NM_000784.3):c.536A>G (p.N179S) - CYP27A1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.578G>A r.(?) p.(Arg193Gln) - Unknown - VUS g.219677076G>A g.218812353G>A CYP27A1(NM_000784.3):c.578G>A (p.R193Q) - CYP27A1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.583G>T r.(?) p.(Glu195*) - Both (homozygous) - VUS g.219677081G>T g.218812358G>T - - CYP27A1_000025 - - - - Unknown - - - 0 - ? ? - - xanthomatosis, cerebrotendinous - PubMed: Wakamatsu 1999 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/. - c.587G>T r.(?) p.(Ser196Ile) - Unknown - VUS g.219677085G>T g.218812362G>T CYP27A1(NM_000784.3):c.587G>T (p.S196I) - CYP27A1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.594G>A r.(?) p.(Ser198=) - Unknown - likely benign g.219677092G>A - CYP27A1(NM_000784.3):c.594G>A (p.S198=) - CYP27A1_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.608C>T r.(?) p.(Ser203Leu) - Unknown - likely benign g.219677106C>T g.218812383C>T CYP27A1(NM_000784.3):c.608C>T (p.S203L) - CYP27A1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624C>T r.(?) p.(Leu208=) - Unknown - likely benign g.219677122C>T g.218812399C>T CYP27A1(NM_000784.3):c.624C>T (p.L208=) - CYP27A1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624C>T r.(?) p.(Leu208=) - Unknown - likely benign g.219677122C>T g.218812399C>T CYP27A1(NM_000784.3):c.624C>T (p.L208=) - CYP27A1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.632_634del r.(?) p.(Tyr211del) - Unknown - VUS g.219677130_219677132del - CYP27A1(NM_000784.3):c.632_634delACT (p.Y211del) - CYP27A1_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.639C>T r.(?) p.(Ala213=) - Unknown - likely benign g.219677137C>T - CYP27A1(NM_000784.3):c.639C>T (p.A213=) - CYP27A1_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.646G>C r.(?) p.(Ala216Pro) - Unknown - pathogenic g.219677144G>C g.218812421G>C CYP27A1(NM_000784.3):c.646G>C (p.A216P), CYP27A1(NM_000784.4):c.646G>C (p.A216P) - CYP27A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.646G>C r.(?) p.(Ala216Pro) - Unknown - pathogenic g.219677144G>C g.218812421G>C CYP27A1(NM_000784.3):c.646G>C (p.A216P), CYP27A1(NM_000784.4):c.646G>C (p.A216P) - CYP27A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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