CYP27B1, 7-BP DUP |
duplication |
Vitamin D-dependent rickets, type 1A [RCV000001732] |
Chr12:12q13.1-q13.3 |
pathogenic |
NM_000785.4(CYP27B1):c.589+1G>A |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV000001734] |
Chr12:57765296 [GRCh38] Chr12:58159079 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.201_204delinsCTTCG (p.Gln67fs) |
indel |
Vitamin D-dependent rickets, type 1A [RCV000001737] |
Chr12:57766189..57766192 [GRCh38] Chr12:58159972..58159975 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.386+1G>A |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV000001738] |
Chr12:57766006 [GRCh38] Chr12:58159789 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000001725]|Vitamin D-dependent rickets, type 1A [RCV001195100] |
Chr12:57766073 [GRCh38] Chr12:58159856 [GRCh37] Chr12:12q14.1 |
pathogenic|likely pathogenic |
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV000001726] |
Chr12:57766019 [GRCh38] Chr12:58159802 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.1004G>C (p.Arg335Pro) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV000001727] |
Chr12:57764510 [GRCh38] Chr12:58158293 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.1144C>T (p.Pro382Ser) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV000001728]|not provided [RCV001851560] |
Chr12:57764169 [GRCh38] Chr12:58157952 [GRCh37] Chr12:12q14.1 |
pathogenic|uncertain significance |
NM_000785.4(CYP27B1):c.631del (p.Glu211fs) |
deletion |
Vitamin D-dependent rickets, type 1A [RCV000001729] |
Chr12:57765170 [GRCh38] Chr12:58158953 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.693del (p.Thr232fs) |
deletion |
Vitamin D-dependent rickets, type 1A [RCV000001730] |
Chr12:57765108 [GRCh38] Chr12:58158891 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.262del (p.Val88fs) |
deletion |
Vitamin D-dependent rickets, type 1A [RCV000001731]|not provided [RCV000254925] |
Chr12:57766131 [GRCh38] Chr12:58159914 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.962C>G (p.Thr321Arg) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV000001733] |
Chr12:57764755 [GRCh38] Chr12:58158538 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV000001735]|not provided [RCV001234461] |
Chr12:57763798 [GRCh38] Chr12:58157581 [GRCh37] Chr12:12q14.1 |
pathogenic|likely pathogenic |
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000001736]|Vitamin D-dependent rickets, type 1A [RCV001195099]|not provided [RCV000481523] |
Chr12:57764147 [GRCh38] Chr12:58157930 [GRCh37] Chr12:12q14.1 |
pathogenic|likely pathogenic |
NM_000785.4(CYP27B1):c.1165C>G (p.Arg389Gly) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV000001739] |
Chr12:57764148 [GRCh38] Chr12:58157931 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.1027C>T (p.Leu343Phe) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV000001740] |
Chr12:57764487 [GRCh38] Chr12:58158270 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.566A>G (p.Glu189Gly) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV000001741] |
Chr12:57765320 [GRCh38] Chr12:58159103 [GRCh37] Chr12:12q14.1 |
pathogenic |
GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1 |
copy number loss |
See cases [RCV000052813] |
Chr12:57013355..63042498 [GRCh38] Chr12:57407139..63436278 [GRCh37] Chr12:55693406..61722545 [NCBI36] Chr12:12q13.3-14.2 |
pathogenic |
GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1 |
copy number loss |
See cases [RCV000052814] |
Chr12:57041158..60273934 [GRCh38] Chr12:57434942..60667715 [GRCh37] Chr12:55721209..58953982 [NCBI36] Chr12:12q13.3-14.1 |
pathogenic |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV001329404]|not provided [RCV000255484] |
Chr12:57763738 [GRCh38] Chr12:58157521 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.*76G>A |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000266794] |
Chr12:57763066 [GRCh38] Chr12:58156849 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.*446G>A |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000364545] |
Chr12:57762696 [GRCh38] Chr12:58156479 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000318208]|Vitamin D-dependent rickets, type 1A [RCV002487368]|not provided [RCV001373348] |
Chr12:57764457 [GRCh38] Chr12:58158240 [GRCh37] Chr12:12q14.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000785.4(CYP27B1):c.*635G>A |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000391373] |
Chr12:57762507 [GRCh38] Chr12:58156290 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.*426_*428dup |
duplication |
Vitamin D-dependent rickets [RCV000269964] |
Chr12:57762713..57762714 [GRCh38] Chr12:58156496..58156497 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000321839]|not provided [RCV001850635] |
Chr12:57763164 [GRCh38] Chr12:58156947 [GRCh37] Chr12:12q14.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000785.4(CYP27B1):c.-22C>G |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000345491] |
Chr12:57767063 [GRCh38] Chr12:58160846 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.348C>T (p.His116=) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000348837]|not provided [RCV000907118] |
Chr12:57766045 [GRCh38] Chr12:58159828 [GRCh37] Chr12:12q14.1 |
benign|uncertain significance |
NM_000785.4(CYP27B1):c.801C>T (p.His267=) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000372905]|not provided [RCV002522242] |
Chr12:57764916 [GRCh38] Chr12:58158699 [GRCh37] Chr12:12q14.1 |
likely benign|uncertain significance |
NM_000785.4(CYP27B1):c.40C>T (p.Arg14Cys) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000309324]|Vitamin D-dependent rickets, type 1A [RCV002494963]|not provided [RCV001859852] |
Chr12:57767002 [GRCh38] Chr12:58160785 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.794A>T (p.Gln265Leu) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000278531] |
Chr12:57764923 [GRCh38] Chr12:58158706 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.541G>T (p.Ala181Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002522243]|Vitamin D-dependent rickets, type 1 [RCV000388320]|Vitamin D-dependent rickets, type 1A [RCV002504069]|not provided [RCV001850636] |
Chr12:57765345 [GRCh38] Chr12:58159128 [GRCh37] Chr12:12q14.1 |
likely benign|uncertain significance |
NM_000785.4(CYP27B1):c.437T>A (p.Leu146His) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000294033] |
Chr12:57765449 [GRCh38] Chr12:58159232 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.*301T>C |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000306248] |
Chr12:57762841 [GRCh38] Chr12:58156624 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.*722C>G |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000349748] |
Chr12:57762420 [GRCh38] Chr12:58156203 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.788T>G (p.Phe263Cys) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000352162] |
Chr12:57765013 [GRCh38] Chr12:58158796 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) |
microsatellite |
Inborn genetic diseases [RCV001267045]|Vitamin D-dependent rickets, type 1 [RCV001028038]|Vitamin D-dependent rickets, type 1A [RCV001808725]|not provided [RCV000271425] |
Chr12:57763698..57763699 [GRCh38] Chr12:58157481..58157482 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.*472C>A |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000309907] |
Chr12:57762670 [GRCh38] Chr12:58156453 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1385A>T (p.Glu462Val) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000376617] |
Chr12:57763639 [GRCh38] Chr12:58157422 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.*295G>A |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000360997] |
Chr12:57762847 [GRCh38] Chr12:58156630 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1375C>T (p.Arg459Cys) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000626155]|not provided [RCV001860473] |
Chr12:57763649 [GRCh38] Chr12:58157432 [GRCh37] Chr12:12q14.1 |
pathogenic|likely pathogenic |
NM_000785.4(CYP27B1):c.171dup (p.Leu58fs) |
duplication |
Vitamin D-dependent rickets, type 1A [RCV001843547]|not provided [RCV000731471] |
Chr12:57766870..57766871 [GRCh38] Chr12:58160653..58160654 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000723316]|not provided [RCV000443114] |
Chr12:57766088 [GRCh38] Chr12:58159871 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.373G>A (p.Gly125Arg) |
single nucleotide variant |
not provided [RCV000498710] |
Chr12:57766020 [GRCh38] Chr12:58159803 [GRCh37] Chr12:12q14.1 |
likely pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NC_000012.12:g.57768302G>T |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV003318421] |
Chr12:57768302 [GRCh38] Chr12:58162085 [GRCh37] Chr12:12q14.1 |
likely risk allele |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_000785.4(CYP27B1):c.1395G>A (p.Leu465=) |
single nucleotide variant |
not provided [RCV000938712] |
Chr12:57763629 [GRCh38] Chr12:58157412 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.1353C>G (p.Gly451=) |
single nucleotide variant |
not provided [RCV000919254] |
Chr12:57763671 [GRCh38] Chr12:58157454 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.1414-95C>T |
single nucleotide variant |
not provided [RCV001724575] |
Chr12:57763350 [GRCh38] Chr12:58157133 [GRCh37] Chr12:12q14.1 |
benign |
NM_000785.4(CYP27B1):c.*143G>A |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001115132] |
Chr12:57762999 [GRCh38] Chr12:58156782 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.*415G>A |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001115128] |
Chr12:57762727 [GRCh38] Chr12:58156510 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.987T>C (p.Ala329=) |
single nucleotide variant |
not provided [RCV000926092] |
Chr12:57764527 [GRCh38] Chr12:58158310 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.386+10C>T |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001111797]|not provided [RCV000926093] |
Chr12:57765997 [GRCh38] Chr12:58159780 [GRCh37] Chr12:12q14.1 |
likely benign|uncertain significance |
NM_000785.4(CYP27B1):c.102C>G (p.Arg34=) |
single nucleotide variant |
not provided [RCV000882799] |
Chr12:57766940 [GRCh38] Chr12:58160723 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.402G>C (p.Trp134Cys) |
single nucleotide variant |
not provided [RCV001035234] |
Chr12:57765484 [GRCh38] Chr12:58159267 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.750G>A (p.Trp250Ter) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000779109]|not provided [RCV001390770] |
Chr12:57765051 [GRCh38] Chr12:58158834 [GRCh37] Chr12:12q14.1 |
pathogenic|uncertain significance |
NM_000785.4(CYP27B1):c.54G>A (p.Ala18=) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV002495435]|not provided [RCV000897462] |
Chr12:57766988 [GRCh38] Chr12:58160771 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.*215G>C |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001115131] |
Chr12:57762927 [GRCh38] Chr12:58156710 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.*329T>C |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001115130] |
Chr12:57762813 [GRCh38] Chr12:58156596 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.*345T>C |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001115129] |
Chr12:57762797 [GRCh38] Chr12:58156580 [GRCh37] Chr12:12q14.1 |
uncertain significance |
GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1 |
copy number loss |
not provided [RCV001006506] |
Chr12:57582163..59031979 [GRCh37] Chr12:12q13.3-14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.318G>A (p.Glu106=) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001112265] |
Chr12:57766075 [GRCh38] Chr12:58159858 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.*764T>A |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001112167] |
Chr12:57762378 [GRCh38] Chr12:58156161 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000988872]|Vitamin D-dependent rickets, type 1A [RCV002479154] |
Chr12:57763667 [GRCh38] Chr12:58157450 [GRCh37] Chr12:12q14.1 |
pathogenic|likely pathogenic |
NM_000785.4(CYP27B1):c.454G>A (p.Ala152Thr) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001111796]|Vitamin D-dependent rickets, type 1A [RCV002505685] |
Chr12:57765432 [GRCh38] Chr12:58159215 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.96dup (p.Ala33fs) |
duplication |
not provided [RCV001234462] |
Chr12:57766945..57766946 [GRCh38] Chr12:58160728..58160729 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.448G>A (p.Ala150Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003269769] |
Chr12:57765438 [GRCh38] Chr12:58159221 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.497_500del (p.Val166fs) |
deletion |
Vitamin D-dependent rickets, type 1A [RCV001614475] |
Chr12:57765386..57765389 [GRCh38] Chr12:58159169..58159172 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001109504]|Vitamin D-dependent rickets, type 1A [RCV003313988] |
Chr12:57763738 [GRCh38] Chr12:58157521 [GRCh37] Chr12:12q14.1 |
likely pathogenic|uncertain significance |
NC_000012.11:g.(?_58156925)_(58157058_?)dup |
duplication |
not provided [RCV003105329] |
Chr12:58156925..58157058 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.387-160G>A |
single nucleotide variant |
not provided [RCV001577225] |
Chr12:57765659 [GRCh38] Chr12:58159442 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.1052T>A (p.Leu351Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003275203] |
Chr12:57764462 [GRCh38] Chr12:58158245 [GRCh37] Chr12:12q14.1 |
uncertain significance |
Single allele |
single nucleotide variant |
not provided [RCV001535046] |
Chr12:57767202 [GRCh38] Chr12:58160985 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.387-39C>A |
single nucleotide variant |
not provided [RCV001654832] |
Chr12:57765538 [GRCh38] Chr12:58159321 [GRCh37] Chr12:12q14.1 |
benign |
NM_000785.4(CYP27B1):c.372C>T (p.Cys124=) |
single nucleotide variant |
not provided [RCV000909902] |
Chr12:57766021 [GRCh38] Chr12:58159804 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.1414-6T>C |
single nucleotide variant |
not provided [RCV000907994] |
Chr12:57763261 [GRCh38] Chr12:58157044 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.385G>A (p.Ala129Thr) |
single nucleotide variant |
not provided [RCV000896271] |
Chr12:57766008 [GRCh38] Chr12:58159791 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.387-8C>A |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV002505379]|not provided [RCV000929903] |
Chr12:57765507 [GRCh38] Chr12:58159290 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.463_464dup (p.Gly156fs) |
duplication |
Vitamin D-dependent rickets, type 1A [RCV001780910] |
Chr12:57765421..57765422 [GRCh38] Chr12:58159204..58159205 [GRCh37] Chr12:12q14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.496G>C (p.Val166Leu) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001111795]|not provided [RCV001512295] |
Chr12:57765390 [GRCh38] Chr12:58159173 [GRCh37] Chr12:12q14.1 |
benign |
NM_000785.4(CYP27B1):c.1040T>A (p.Ile347Asn) |
single nucleotide variant |
not provided [RCV001227711] |
Chr12:57764474 [GRCh38] Chr12:58158257 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.196-2A>G |
single nucleotide variant |
not provided [RCV001227842] |
Chr12:57766199 [GRCh38] Chr12:58159982 [GRCh37] Chr12:12q14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.791-7C>G |
single nucleotide variant |
not provided [RCV001055048] |
Chr12:57764933 [GRCh38] Chr12:58158716 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1474C>T (p.Arg492Trp) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV002479372]|not provided [RCV001063199] |
Chr12:57763195 [GRCh38] Chr12:58156978 [GRCh37] Chr12:12q14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.584T>A (p.Leu195Gln) |
single nucleotide variant |
not provided [RCV001244022] |
Chr12:57765302 [GRCh38] Chr12:58159085 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV002495513]|not provided [RCV000913922] |
Chr12:57763217 [GRCh38] Chr12:58157000 [GRCh37] Chr12:12q14.1 |
benign|likely benign |
NM_000785.4(CYP27B1):c.1413+113A>C |
single nucleotide variant |
not provided [RCV001675497] |
Chr12:57763498 [GRCh38] Chr12:58157281 [GRCh37] Chr12:12q14.1 |
benign |
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3 |
copy number gain |
not provided [RCV001006505] |
Chr12:55552371..62126304 [GRCh37] Chr12:12q13.2-14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.*426T>C |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001112168] |
Chr12:57762716 [GRCh38] Chr12:58156499 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.626G>C (p.Cys209Ser) |
single nucleotide variant |
not provided [RCV001234408] |
Chr12:57765175 [GRCh38] Chr12:58158958 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.117C>T (p.Asp39=) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001112266] |
Chr12:57766925 [GRCh38] Chr12:58160708 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.-8_4dup (p.Met1_Thr2insAsnGlnThrMet) |
duplication |
not provided [RCV001207979] |
Chr12:57767037..57767038 [GRCh38] Chr12:58160820..58160821 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.96_97del (p.Ala33fs) |
deletion |
not provided [RCV001046615] |
Chr12:57766945..57766946 [GRCh38] Chr12:58160728..58160729 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.*77G>A |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001115133] |
Chr12:57763065 [GRCh38] Chr12:58156848 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.41G>A (p.Arg14His) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV002484091]|not provided [RCV001203041] |
Chr12:57767001 [GRCh38] Chr12:58160784 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.265_270del (p.Ala89_Ala90del) |
deletion |
not provided [RCV001216442] |
Chr12:57766123..57766128 [GRCh38] Chr12:58159906..58159911 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1230G>C (p.Leu410=) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001109505] |
Chr12:57763794 [GRCh38] Chr12:58157577 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.942G>A (p.Leu314=) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001109506]|not provided [RCV001518572] |
Chr12:57764775 [GRCh38] Chr12:58158558 [GRCh37] Chr12:12q14.1 |
benign|likely benign |
NM_000785.4(CYP27B1):c.217_220del (p.Gly73fs) |
deletion |
Vitamin D-dependent rickets type 1A [RCV001329405] |
Chr12:57766173..57766176 [GRCh38] Chr12:58159956..58159959 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.1340C>T (p.Pro447Leu) |
single nucleotide variant |
not provided [RCV001340929] |
Chr12:57763684 [GRCh38] Chr12:58157467 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.413G>T (p.Arg138Leu) |
single nucleotide variant |
not provided [RCV001315767] |
Chr12:57765473 [GRCh38] Chr12:58159256 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1376G>A (p.Arg459His) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV001823195]|not provided [RCV001304461] |
Chr12:57763648 [GRCh38] Chr12:58157431 [GRCh37] Chr12:12q14.1 |
likely pathogenic|uncertain significance |
NM_000785.4(CYP27B1):c.690G>A (p.Val230=) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV002504693]|not provided [RCV001415018] |
Chr12:57765111 [GRCh38] Chr12:58158894 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.1113G>A (p.Lys371=) |
single nucleotide variant |
not provided [RCV001295909] |
Chr12:57764401 [GRCh38] Chr12:58158184 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1378del (p.Leu460fs) |
deletion |
Vitamin D-dependent rickets type 1A [RCV001336989] |
Chr12:57763646 [GRCh38] Chr12:58157429 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.1198T>G (p.Tyr400Asp) |
single nucleotide variant |
not provided [RCV001297431] |
Chr12:57764115 [GRCh38] Chr12:58157898 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.388G>A (p.Glu130Lys) |
single nucleotide variant |
not provided [RCV001367121] |
Chr12:57765498 [GRCh38] Chr12:58159281 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1290_1294dup (p.Arg432fs) |
duplication |
not provided [RCV001384645] |
Chr12:57763729..57763730 [GRCh38] Chr12:58157512..58157513 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.330C>T (p.Phe110=) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV002506614]|not provided [RCV001516250] |
Chr12:57766063 [GRCh38] Chr12:58159846 [GRCh37] Chr12:12q14.1 |
benign|likely benign |
NM_000785.4(CYP27B1):c.160_161dup (p.Lys55fs) |
duplication |
not provided [RCV001380894] |
Chr12:57766880..57766881 [GRCh38] Chr12:58160663..58160664 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.51G>A (p.Trp17Ter) |
single nucleotide variant |
not provided [RCV001388293] |
Chr12:57766991 [GRCh38] Chr12:58160774 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.531G>T (p.Thr177=) |
single nucleotide variant |
not provided [RCV001431595] |
Chr12:57765355 [GRCh38] Chr12:58159138 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.609C>T (p.Leu203=) |
single nucleotide variant |
not provided [RCV001489942] |
Chr12:57765192 [GRCh38] Chr12:58158975 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.1358G>T (p.Arg453Leu) |
single nucleotide variant |
not provided [RCV001378186] |
Chr12:57763666 [GRCh38] Chr12:58157449 [GRCh37] Chr12:12q14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.428C>T (p.Pro143Leu) |
single nucleotide variant |
not provided [RCV001379078] |
Chr12:57765458 [GRCh38] Chr12:58159241 [GRCh37] Chr12:12q14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.1388T>C (p.Leu463Pro) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV002251272] |
Chr12:57763636 [GRCh38] Chr12:58157419 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1165C>T (p.Arg389Cys) |
single nucleotide variant |
not provided [RCV001868859] |
Chr12:57764148 [GRCh38] Chr12:58157931 [GRCh37] Chr12:12q14.1 |
pathogenic|likely pathogenic |
NM_000785.4(CYP27B1):c.1349_1376del (p.Phe450fs) |
deletion |
Vitamin D-dependent rickets, type 1A [RCV001780912] |
Chr12:57763648..57763675 [GRCh38] Chr12:58157431..58157458 [GRCh37] Chr12:12q14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.403C>T (p.Gln135Ter) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV001780604] |
Chr12:57765483 [GRCh38] Chr12:58159266 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.1232G>A (p.Cys411Tyr) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV001843693] |
Chr12:57763792 [GRCh38] Chr12:58157575 [GRCh37] Chr12:12q14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.590-9_656delinsAGGG |
indel |
not provided [RCV001988544] |
Chr12:57765145..57765220 [GRCh38] Chr12:58158928..58159003 [GRCh37] Chr12:12q14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.986C>T (p.Ala329Val) |
single nucleotide variant |
not provided [RCV002039957] |
Chr12:57764528 [GRCh38] Chr12:58158311 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.413G>A (p.Arg138His) |
single nucleotide variant |
not provided [RCV001985061] |
Chr12:57765473 [GRCh38] Chr12:58159256 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.623G>T (p.Gly208Val) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001843329] |
Chr12:57765178 [GRCh38] Chr12:58158961 [GRCh37] Chr12:12q14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.1174_1177del (p.Asp392fs) |
deletion |
not provided [RCV001913989] |
Chr12:57764136..57764139 [GRCh38] Chr12:58157919..58157922 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.170G>T (p.Gly57Val) |
single nucleotide variant |
not provided [RCV001949260] |
Chr12:57766872 [GRCh38] Chr12:58160655 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.386C>T (p.Ala129Val) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001843328] |
Chr12:57766007 [GRCh38] Chr12:58159790 [GRCh37] Chr12:12q14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.1160A>C (p.Asn387Thr) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001843330] |
Chr12:57764153 [GRCh38] Chr12:58157936 [GRCh37] Chr12:12q14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.164A>T (p.Lys55Met) |
single nucleotide variant |
not provided [RCV001966315] |
Chr12:57766878 [GRCh38] Chr12:58160661 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.547G>C (p.Val183Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002545295]|not provided [RCV002037613] |
Chr12:57765339 [GRCh38] Chr12:58159122 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.511C>T (p.Arg171Cys) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV002492063]|not provided [RCV001955711] |
Chr12:57765375 [GRCh38] Chr12:58159158 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV002266018]|not provided [RCV001869609] |
Chr12:57764540 [GRCh38] Chr12:58158323 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1215+5G>A |
single nucleotide variant |
not provided [RCV001916782] |
Chr12:57764093 [GRCh38] Chr12:58157876 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.341C>G (p.Thr114Arg) |
single nucleotide variant |
not provided [RCV002012335] |
Chr12:57766052 [GRCh38] Chr12:58159835 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1216-1G>C |
single nucleotide variant |
not provided [RCV001953747] |
Chr12:57763809 [GRCh38] Chr12:58157592 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.1166_1170dup (p.Pro391fs) |
duplication |
not provided [RCV001875717] |
Chr12:57764142..57764143 [GRCh38] Chr12:58157925..58157926 [GRCh37] Chr12:12q14.1 |
pathogenic |
NC_000012.11:g.(?_57881874)_(58190366_?)dup |
duplication |
not provided [RCV001916382] |
Chr12:57881874..58190366 [GRCh37] Chr12:12q13.3-14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.386+14G>A |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV002505790]|not provided [RCV002126263] |
Chr12:57765993 [GRCh38] Chr12:58159776 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.1215+20C>T |
single nucleotide variant |
not provided [RCV002128809] |
Chr12:57764078 [GRCh38] Chr12:58157861 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.669C>A (p.Arg223=) |
single nucleotide variant |
not provided [RCV002189849] |
Chr12:57765132 [GRCh38] Chr12:58158915 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.386+14G>T |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV002479878]|not provided [RCV002212548] |
Chr12:57765993 [GRCh38] Chr12:58159776 [GRCh37] Chr12:12q14.1 |
benign |
NM_000785.4(CYP27B1):c.645A>G (p.Pro215=) |
single nucleotide variant |
not provided [RCV002133630] |
Chr12:57765156 [GRCh38] Chr12:58158939 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.791-16C>T |
single nucleotide variant |
not provided [RCV002079860] |
Chr12:57764942 [GRCh38] Chr12:58158725 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.386+16C>T |
single nucleotide variant |
not provided [RCV002151298] |
Chr12:57765991 [GRCh38] Chr12:58159774 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.933G>C (p.Val311=) |
single nucleotide variant |
not provided [RCV002202501] |
Chr12:57764784 [GRCh38] Chr12:58158567 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.981T>C (p.Ser327=) |
single nucleotide variant |
not provided [RCV002217518] |
Chr12:57764533 [GRCh38] Chr12:58158316 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.1216-18T>G |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV002500224]|not provided [RCV002119036] |
Chr12:57763826 [GRCh38] Chr12:58157609 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.791-5C>T |
single nucleotide variant |
not provided [RCV003115333] |
Chr12:57764931 [GRCh38] Chr12:58158714 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.167G>A (p.Gly56Glu) |
single nucleotide variant |
not provided [RCV003115944] |
Chr12:57766875 [GRCh38] Chr12:58160658 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1320C>T (p.Pro440=) |
single nucleotide variant |
not provided [RCV003121273] |
Chr12:57763704 [GRCh38] Chr12:58157487 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.358C>A (p.Arg120Ser) |
single nucleotide variant |
not provided [RCV003118956] |
Chr12:57766035 [GRCh38] Chr12:58159818 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NC_000012.11:g.(?_58144419)_(58160824_?)dup |
duplication |
Familial melanoma [RCV003119255] |
Chr12:58144419..58160824 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NC_000012.11:g.(?_57534470)_(58190366_?)dup |
duplication |
Familial melanoma [RCV003119257] |
Chr12:57534470..58190366 [GRCh37] Chr12:12q13.3-14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.252_262del (p.Thr85fs) |
deletion |
Vitamin D-dependent rickets, type 1A [RCV002249854] |
Chr12:57766131..57766141 [GRCh38] Chr12:58159914..58159924 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.335C>T (p.Pro112Leu) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV002284044] |
Chr12:57766058 [GRCh38] Chr12:58159841 [GRCh37] Chr12:12q14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.704C>A (p.Thr235Asn) |
single nucleotide variant |
not provided [RCV002288096] |
Chr12:57765097 [GRCh38] Chr12:58158880 [GRCh37] Chr12:12q14.1 |
uncertain significance |
GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1 |
copy number loss |
not provided [RCV002474565] |
Chr12:57631073..58236597 [GRCh37] Chr12:12q13.3-14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.163A>G (p.Lys55Glu) |
single nucleotide variant |
not provided [RCV002301257] |
Chr12:57766879 [GRCh38] Chr12:58160662 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1190T>C (p.Val397Ala) |
single nucleotide variant |
not provided [RCV002301207] |
Chr12:57764123 [GRCh38] Chr12:58157906 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.628C>A (p.Leu210Met) |
single nucleotide variant |
not provided [RCV002296849] |
Chr12:57765173 [GRCh38] Chr12:58158956 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.614C>G (p.Ser205Trp) |
single nucleotide variant |
not provided [RCV002296850] |
Chr12:57765187 [GRCh38] Chr12:58158970 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.707T>C (p.Met236Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002907286] |
Chr12:57765094 [GRCh38] Chr12:58158877 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.609C>A (p.Leu203=) |
single nucleotide variant |
not provided [RCV002862999] |
Chr12:57765192 [GRCh38] Chr12:58158975 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.733C>T (p.Leu245Phe) |
single nucleotide variant |
not provided [RCV003034857] |
Chr12:57765068 [GRCh38] Chr12:58158851 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.230T>C (p.Leu77Pro) |
single nucleotide variant |
not provided [RCV002731127] |
Chr12:57766163 [GRCh38] Chr12:58159946 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.346C>G (p.His116Asp) |
single nucleotide variant |
not provided [RCV002616690] |
Chr12:57766047 [GRCh38] Chr12:58159830 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1266C>T (p.Phe422=) |
single nucleotide variant |
not provided [RCV002994170] |
Chr12:57763758 [GRCh38] Chr12:58157541 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.855G>A (p.Lys285=) |
single nucleotide variant |
not provided [RCV002971871] |
Chr12:57764862 [GRCh38] Chr12:58158645 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.350G>A (p.Arg117His) |
single nucleotide variant |
not provided [RCV002991858] |
Chr12:57766043 [GRCh38] Chr12:58159826 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.580G>A (p.Gly194Arg) |
single nucleotide variant |
not provided [RCV003074962] |
Chr12:57765306 [GRCh38] Chr12:58159089 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1295G>A (p.Arg432His) |
single nucleotide variant |
Inborn genetic diseases [RCV002997182] |
Chr12:57763729 [GRCh38] Chr12:58157512 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.531G>A (p.Thr177=) |
single nucleotide variant |
not provided [RCV002569875] |
Chr12:57765355 [GRCh38] Chr12:58159138 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.744G>A (p.Gly248=) |
single nucleotide variant |
not provided [RCV002785817] |
Chr12:57765057 [GRCh38] Chr12:58158840 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.1137-6A>G |
single nucleotide variant |
not provided [RCV002889910] |
Chr12:57764182 [GRCh38] Chr12:58157965 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.386+6T>C |
single nucleotide variant |
not provided [RCV003038210] |
Chr12:57766001 [GRCh38] Chr12:58159784 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.850G>A (p.Glu284Lys) |
single nucleotide variant |
not provided [RCV003035681] |
Chr12:57764867 [GRCh38] Chr12:58158650 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1215+5del |
deletion |
not provided [RCV003053718] |
Chr12:57764093 [GRCh38] Chr12:58157876 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.715C>A (p.Pro239Thr) |
single nucleotide variant |
not provided [RCV003037936] |
Chr12:57765086 [GRCh38] Chr12:58158869 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.347A>G (p.His116Arg) |
single nucleotide variant |
not provided [RCV003018818] |
Chr12:57766046 [GRCh38] Chr12:58159829 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1517T>G (p.Leu506Trp) |
single nucleotide variant |
not provided [RCV003021502] |
Chr12:57763152 [GRCh38] Chr12:58156935 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1094C>T (p.Ser365Phe) |
single nucleotide variant |
not provided [RCV002620604] |
Chr12:57764420 [GRCh38] Chr12:58158203 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.405A>T (p.Gln135His) |
single nucleotide variant |
not provided [RCV003001974] |
Chr12:57765481 [GRCh38] Chr12:58159264 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1052T>G (p.Leu351Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002980219] |
Chr12:57764462 [GRCh38] Chr12:58158245 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.590-11C>G |
single nucleotide variant |
not provided [RCV003036333] |
Chr12:57765222 [GRCh38] Chr12:58159005 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.171del (p.Leu58fs) |
deletion |
not provided [RCV002622191] |
Chr12:57766871 [GRCh38] Chr12:58160654 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.990G>A (p.Leu330=) |
single nucleotide variant |
not provided [RCV002795151] |
Chr12:57764524 [GRCh38] Chr12:58158307 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.1136+9G>T |
single nucleotide variant |
not provided [RCV002642552] |
Chr12:57764369 [GRCh38] Chr12:58158152 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.812G>T (p.Arg271Leu) |
single nucleotide variant |
not provided [RCV002667629] |
Chr12:57764905 [GRCh38] Chr12:58158688 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.764G>A (p.Arg255Gln) |
single nucleotide variant |
not provided [RCV002576408] |
Chr12:57765037 [GRCh38] Chr12:58158820 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1364G>A (p.Cys455Tyr) |
single nucleotide variant |
not provided [RCV003022149] |
Chr12:57763660 [GRCh38] Chr12:58157443 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.463G>A (p.Ala155Thr) |
single nucleotide variant |
not provided [RCV002710186] |
Chr12:57765423 [GRCh38] Chr12:58159206 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.274G>A (p.Ala92Thr) |
single nucleotide variant |
not provided [RCV002983026] |
Chr12:57766119 [GRCh38] Chr12:58159902 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.657G>C (p.Glu219Asp) |
single nucleotide variant |
not provided [RCV002623462] |
Chr12:57765144 [GRCh38] Chr12:58158927 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.1136+15G>A |
single nucleotide variant |
not provided [RCV002572240] |
Chr12:57764363 [GRCh38] Chr12:58158146 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.1136+1G>T |
single nucleotide variant |
not provided [RCV003041160] |
Chr12:57764377 [GRCh38] Chr12:58158160 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.289_303del (p.Leu97_Glu101del) |
deletion |
not provided [RCV003058386] |
Chr12:57766090..57766104 [GRCh38] Chr12:58159873..58159887 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1057C>T (p.Pro353Ser) |
single nucleotide variant |
not provided [RCV002667850] |
Chr12:57764457 [GRCh38] Chr12:58158240 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1121T>C (p.Val374Ala) |
single nucleotide variant |
not provided [RCV003041161] |
Chr12:57764393 [GRCh38] Chr12:58158176 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1512G>A (p.Gln504=) |
single nucleotide variant |
not provided [RCV002667262] |
Chr12:57763157 [GRCh38] Chr12:58156940 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.466G>T (p.Gly156Ter) |
single nucleotide variant |
not provided [RCV003024637] |
Chr12:57765420 [GRCh38] Chr12:58159203 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.1086T>A (p.Thr362=) |
single nucleotide variant |
not provided [RCV002596330] |
Chr12:57764428 [GRCh38] Chr12:58158211 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.200A>G (p.Gln67Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002873881] |
Chr12:57766193 [GRCh38] Chr12:58159976 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1475G>C (p.Arg492Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002743362] |
Chr12:57763194 [GRCh38] Chr12:58156977 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.568T>C (p.Phe190Leu) |
single nucleotide variant |
not provided [RCV003028093] |
Chr12:57765318 [GRCh38] Chr12:58159101 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1499G>A (p.Ser500Asn) |
single nucleotide variant |
not provided [RCV003088109] |
Chr12:57763170 [GRCh38] Chr12:58156953 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.310C>T (p.Arg104Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003250786]|not provided [RCV002602768] |
Chr12:57766083 [GRCh38] Chr12:58159866 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1219C>T (p.Leu407=) |
single nucleotide variant |
not provided [RCV002627489] |
Chr12:57763805 [GRCh38] Chr12:58157588 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.195+13_195+26del |
deletion |
not provided [RCV002577262] |
Chr12:57766821..57766834 [GRCh38] Chr12:58160604..58160617 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.651C>A (p.Asp217Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002959310] |
Chr12:57765150 [GRCh38] Chr12:58158933 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.963G>T (p.Thr321=) |
single nucleotide variant |
Inborn genetic diseases [RCV002922273]|not provided [RCV002922272] |
Chr12:57764754 [GRCh38] Chr12:58158537 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.945A>G (p.Leu315=) |
single nucleotide variant |
not provided [RCV003009251] |
Chr12:57764772 [GRCh38] Chr12:58158555 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.311G>A (p.Arg104Gln) |
single nucleotide variant |
not provided [RCV002715601] |
Chr12:57766082 [GRCh38] Chr12:58159865 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1215+12C>A |
single nucleotide variant |
not provided [RCV002834700] |
Chr12:57764086 [GRCh38] Chr12:58157869 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.361C>T (p.Gln121Ter) |
single nucleotide variant |
not provided [RCV002670823] |
Chr12:57766032 [GRCh38] Chr12:58159815 [GRCh37] Chr12:12q14.1 |
pathogenic |
NM_000785.4(CYP27B1):c.1108C>A (p.Leu370Met) |
single nucleotide variant |
not provided [RCV002857478] |
Chr12:57764406 [GRCh38] Chr12:58158189 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.500G>C (p.Arg167Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002963497] |
Chr12:57765386 [GRCh38] Chr12:58159169 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.358C>T (p.Arg120Cys) |
single nucleotide variant |
not provided [RCV002671700] |
Chr12:57766035 [GRCh38] Chr12:58159818 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.309C>T (p.Pro103=) |
single nucleotide variant |
not provided [RCV003086661] |
Chr12:57766084 [GRCh38] Chr12:58159867 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.148G>A (p.Ala50Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002670801]|not provided [RCV002647170] |
Chr12:57766894 [GRCh38] Chr12:58160677 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.196-20C>T |
single nucleotide variant |
not provided [RCV002630346] |
Chr12:57766217 [GRCh38] Chr12:58160000 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.1318C>T (p.Pro440Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002940293] |
Chr12:57763706 [GRCh38] Chr12:58157489 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.364C>A (p.Arg122=) |
single nucleotide variant |
not provided [RCV002649468] |
Chr12:57766029 [GRCh38] Chr12:58159812 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.939G>C (p.Glu313Asp) |
single nucleotide variant |
not provided [RCV002635339] |
Chr12:57764778 [GRCh38] Chr12:58158561 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1116G>A (p.Ala372=) |
single nucleotide variant |
not provided [RCV002942295] |
Chr12:57764398 [GRCh38] Chr12:58158181 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.328T>C (p.Phe110Leu) |
single nucleotide variant |
not provided [RCV002609184] |
Chr12:57766065 [GRCh38] Chr12:58159848 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1136+5G>C |
single nucleotide variant |
not provided [RCV002607513] |
Chr12:57764373 [GRCh38] Chr12:58158156 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.1217C>T (p.Thr406Met) |
single nucleotide variant |
not provided [RCV002657933] |
Chr12:57763807 [GRCh38] Chr12:58157590 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.66C>T (p.Gly22=) |
single nucleotide variant |
not provided [RCV002610653] |
Chr12:57766976 [GRCh38] Chr12:58160759 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.1248A>G (p.Ser416=) |
single nucleotide variant |
not provided [RCV002610789] |
Chr12:57763776 [GRCh38] Chr12:58157559 [GRCh37] Chr12:12q14.1 |
likely benign |
NM_000785.4(CYP27B1):c.670G>T (p.Ala224Ser) |
single nucleotide variant |
not provided [RCV002603441] |
Chr12:57765131 [GRCh38] Chr12:58158914 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.43G>A (p.Val15Ile) |
single nucleotide variant |
not provided [RCV002586052] |
Chr12:57766999 [GRCh38] Chr12:58160782 [GRCh37] Chr12:12q14.1 |
uncertain significance |
NM_000785.4(CYP27B1):c.781T>G (p.Phe261Val) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1A [RCV003223460] |
Chr12:57765020 [GRCh38] Chr12:58158803 [GRCh37] Chr12:12q14.1 |
uncertain significance |
GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1 |
copy number loss |
not provided [RCV003222783] |
Chr12:57064059..59314016 [GRCh37] Chr12:12q13.3-14.1 |
likely pathogenic |
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His) |
single nucleotide variant |
not specified [RCV003226270] |
Chr12:57763666 [GRCh38] Chr12:58157449 [GRCh37] Chr12:12q14.1 |
uncertain significance |