| 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 |
| CYP27B1, 5-BP DEL/6-BP INS |
indel |
Vitamin D-dependent rickets type 1A [RCV000001737] |
Chr12:12q13.1-q13.3 |
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 1A [RCV001195100]|Vitamin D-dependent rickets, type 1 [RCV000001725] |
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] |
Chr12:57764169 [GRCh38]
Chr12:58157952 [GRCh37]
Chr12:12q14.1 |
pathogenic |
| 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 1A [RCV001195099]|Vitamin D-dependent rickets, type 1 [RCV000001736]|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 |
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] |
Chr12:57764457 [GRCh38]
Chr12:58158240 [GRCh37]
Chr12:12q14.1 |
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] |
Chr12:57763164 [GRCh38]
Chr12:58156947 [GRCh37]
Chr12:12q14.1 |
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] |
Chr12:57764916 [GRCh38]
Chr12:58158699 [GRCh37]
Chr12:12q14.1 |
uncertain significance |
| NM_000785.4(CYP27B1):c.40C>T (p.Arg14Cys) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV000309324] |
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 |
Vitamin D-dependent rickets, type 1 [RCV000388320] |
Chr12:57765345 [GRCh38]
Chr12:58159128 [GRCh37]
Chr12:12q14.1 |
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.1312_1318CCCACCC[3] (p.Phe443fs) |
microsatellite |
Vitamin D-dependent rickets, type 1 [RCV001028038]|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] |
Chr12:57763649 [GRCh38]
Chr12:58157432 [GRCh37]
Chr12:12q14.1 |
pathogenic|likely pathogenic |
| NM_000785.4(CYP27B1):c.171dup (p.Leu58fs) |
duplication |
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 |
| 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.*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] |
Chr12:57765051 [GRCh38]
Chr12:58158834 [GRCh37]
Chr12:12q14.1 |
uncertain significance |
| NM_000785.4(CYP27B1):c.54G>A (p.Ala18=) |
single nucleotide variant |
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] |
Chr12:57763667 [GRCh38]
Chr12:58157450 [GRCh37]
Chr12:12q14.1 |
pathogenic |
| NM_000785.4(CYP27B1):c.454G>A (p.Ala152Thr) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001111796] |
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.1286G>A (p.Arg429His) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001109504] |
Chr12:57763738 [GRCh38]
Chr12:58157521 [GRCh37]
Chr12:12q14.1 |
uncertain significance |
| 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 |
not provided [RCV000929903] |
Chr12:57765507 [GRCh38]
Chr12:58159290 [GRCh37]
Chr12:12q14.1 |
likely benign |
| NM_000785.4(CYP27B1):c.496G>C (p.Val166Leu) |
single nucleotide variant |
Vitamin D-dependent rickets, type 1 [RCV001111795] |
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 |
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 |
not provided [RCV000913922] |
Chr12:57763217 [GRCh38]
Chr12:58157000 [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.Thr2_Gln3insAsnGlnThrMet) |
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 |
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] |
Chr12:57764775 [GRCh38]
Chr12:58158558 [GRCh37]
Chr12:12q14.1 |
likely benign |
Gene-Chemical Interaction Annotations
