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VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
VDRVitamin D-dependent rickets, type 2Pathogenic
(Sep 1, 2001)
no assertion criteria provided
2.
GRCh37:
Chr12:26370251-54361538
ASIC1, ACVR1B, ACVRL1, ADCY6, ABCD2, AMHR2, AQP2, AQP5, AQP6, ARF3, ATF1, ATP5MC2, BICD1, CACNB3, CCNT1, CNTN1, COL2A1, DDX11, EIF4B, CELA1, GPD1, NR4A1, HOXC12, HOXC13, IGFBP6, ITGB7, ITPR2, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT7, KRT8, KRT18, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, LALBA, NELL2, SLC11A2, PCBP2, PFDN5, PFKM, PKP2, POU6F1, PRKAG1, PRPH, PTHLH, TWF1, RARG, SCN8A, SMARCD1, SP1, TARBP2, TMBIM6, TFCP2, VDR, WNT1, WNT10B, MAP3K12, TUBA1A, SSPN, KMT2D, AAAS, SOAT2, PPFIBP1, NPFF, ENDOU, KRT75, SCAF11, MED21, DDX23, SLC4A8, ESPL1, DAZAP2, TROAP, DNM1L, YAF2, TUBA1B, RAPGEF3, MCRS1, IPO8, ATF7, GALNT6, STK38L, FAIM2, DDN, TNS2, KCNH3, ANP32D, PRPF40B, METTL7A, LETMD1, FGFR1OP2, RND1, RACGAP1, SENP1, PDZRN4, DHH, YARS2, IRAK4, ERGIC2, FKBP11, KRT76, CSAD, BIN2, LIMA1, PPHLN1, HDAC7, TM7SF3, SLC38A2, PRR13, KANSL2, SLC38A4, RESF1, CCDC91, KIF21A, SLC48A1, FAR2, LMBR1L, INTS13, ARNTL2, SMAGP, KLHL42, DIP2B, CALCOCO1, NCKAP5L, SINHCAF, C12orf10, MRPS35, ATG101, SPATS2, CAPRIN2, TMEM106C, RPAP3, DNAJC22, ADAMTS20, SLC38A1, CSRNP2, PUS7L, TMTC1, FAM186B, TMEM117, TUBA1C, ALG10, SPRYD3, MFSD5, COX14, ZCRB1, CCDC65, FMNL3, CERS5, PCED1B, KRT71, LARP4, SLC2A13, LRRK2, FAM186A, RHEBL1, C12orf54, ZNF641, OR10AD1, SP7, KRT74, FGD4, ASB8, KRT72, PRICKLE1, BCDIN3D, ALG10B, CPNE8, KRT80, DENND5B, GRASP, KRT78, AMN1, ANO6, ARID2, ETFBKMT, ZNF740, C12orf80, C12orf40, MUC19, GXYLT1, TMPRSS12, KRT6C, KRT73, C1QL4, KRT79, SMCO2, OVCH1, SYT10, ANKRD33, H1FNT, OR8S1, AMIGO2, KRT77, REP15, CCDC184, FIGNL2, H3F3C, DBX2, TSPAN11, HIGD1C, C12orf71, HOTAIR, MANSC4, HOXC13-AS
not specifiedUncertain significance
(Feb 2, 2018)
no assertion criteria provided
3.
GRCh37:
Chr12:48235555
GRCh38:
Chr12:47841772
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr12:48235556
GRCh38:
Chr12:47841773
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr12:48235629
GRCh38:
Chr12:47841846
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr12:48235651
GRCh38:
Chr12:47841868
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr12:48235702
GRCh38:
Chr12:47841919
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr12:48235738
GRCh38:
Chr12:47841955
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr12:48235871
GRCh38:
Chr12:47842088
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr12:48235936
GRCh38:
Chr12:47842153
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr12:48236073
GRCh38:
Chr12:47842290
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr12:48236116
GRCh38:
Chr12:47842333
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr12:48236138
GRCh38:
Chr12:47842355
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr12:48236170
GRCh38:
Chr12:47842387
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr12:48236201
GRCh38:
Chr12:47842418
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr12:48236266
GRCh38:
Chr12:47842483
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr12:48236302
GRCh38:
Chr12:47842519
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr12:48236303
GRCh38:
Chr12:47842520
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr12:48236361
GRCh38:
Chr12:47842578
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr12:48236386
GRCh38:
Chr12:47842603
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr12:48236405
GRCh38:
Chr12:47842622
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr12:48236407-48236412
GRCh38:
Chr12:47842624-47842629
VDRVitamin D-Dependent RicketsBenign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr12:48236407
GRCh38:
Chr12:47842624
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr12:48236407-48236411
GRCh38:
Chr12:47842624-47842628
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr12:48236424-48236429
GRCh38:
Chr12:47842641-47842646
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr12:48236427
GRCh38:
Chr12:47842644
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr12:48236427
GRCh38:
Chr12:47842644
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr12:48236495
GRCh38:
Chr12:47842712
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr12:48236506
GRCh38:
Chr12:47842723
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr12:48236537
GRCh38:
Chr12:47842754
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr12:48236547
GRCh38:
Chr12:47842764
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr12:48236550
GRCh38:
Chr12:47842767
VDRVitamin D-Dependent RicketsBenign
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr12:48236623
GRCh38:
Chr12:47842840
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr12:48236664
GRCh38:
Chr12:47842881
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr12:48236724
GRCh38:
Chr12:47842941
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr12:48236863
GRCh38:
Chr12:47843080
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr12:48237047
GRCh38:
Chr12:47843264
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr12:48237052
GRCh38:
Chr12:47843269
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr12:48237109
GRCh38:
Chr12:47843326
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr12:48237210
GRCh38:
Chr12:47843427
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr12:48237276
GRCh38:
Chr12:47843493
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr12:48237280-48237284
GRCh38:
Chr12:47843497-47843501
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr12:48237303
GRCh38:
Chr12:47843520
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr12:48237338
GRCh38:
Chr12:47843555
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr12:48237350
GRCh38:
Chr12:47843567
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr12:48237351
GRCh38:
Chr12:47843568
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr12:48237576-48237578
GRCh38:
Chr12:47843793-47843795
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr12:48237647
GRCh38:
Chr12:47843864
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr12:48237652
GRCh38:
Chr12:47843869
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr12:48237702
GRCh38:
Chr12:47843919
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr12:48237781
GRCh38:
Chr12:47843998
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr12:48237995
GRCh38:
Chr12:47844212
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr12:48238042
GRCh38:
Chr12:47844259
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr12:48238068
GRCh38:
Chr12:47844285
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr12:48238092
GRCh38:
Chr12:47844309
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr12:48238120
GRCh38:
Chr12:47844337
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr12:48238121
GRCh38:
Chr12:47844338
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr12:48238124
GRCh38:
Chr12:47844341
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr12:48238142
GRCh38:
Chr12:47844359
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr12:48238221
GRCh38:
Chr12:47844438
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr12:48238231
GRCh38:
Chr12:47844448
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr12:48238345
GRCh38:
Chr12:47844562
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr12:48238418
GRCh38:
Chr12:47844635
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr12:48238432
GRCh38:
Chr12:47844649
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr12:48238459
GRCh38:
Chr12:47844676
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr12:48238623
GRCh38:
Chr12:47844840
VDRVitamin D-dependent rickets, type 2Pathogenic
(May 3, 2016)
no assertion criteria provided
67.
GRCh37:
Chr12:48238642
GRCh38:
Chr12:47844859
VDRVitamin D-dependent rickets, type 2Pathogenic
(May 3, 2016)
no assertion criteria provided
68.
GRCh37:
Chr12:48238642
GRCh38:
Chr12:47844859
VDRVitamin D-dependent rickets, type 2Pathogenic
(Dec 1, 1996)
no assertion criteria provided
69.
GRCh37:
Chr12:48238661
GRCh38:
Chr12:47844878
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr12:48238679
GRCh38:
Chr12:47844896
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr12:48238682
GRCh38:
Chr12:47844899
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr12:48238757
GRCh38:
Chr12:47844974
VDRnot specified, Vitamin D-Dependent RicketsBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr12:48238765
GRCh38:
Chr12:47844982
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr12:48238777
GRCh38:
Chr12:47844994
VDRVitamin D-dependent rickets, type 2Pathogenic
(Jan 1, 2008)
no assertion criteria provided
75.
GRCh37:
Chr12:48238786
GRCh38:
Chr12:47845003
VDRnot providedLikely pathogenic
(Aug 28, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr12:48240157
GRCh38:
Chr12:47846374
VDRVitamin D-dependent rickets, type 2Pathogenic
(Sep 1, 2001)
no assertion criteria provided
77.
GRCh37:
Chr12:48240197
GRCh38:
Chr12:47846414
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr12:48240201
GRCh38:
Chr12:47846418
VDRVitamin D-dependent rickets, type 2Pathogenic
(Dec 1, 1996)
no assertion criteria provided
79.
GRCh37:
Chr12:48240227
GRCh38:
Chr12:47846444
VDRVitamin D-dependent rickets, type 2Pathogenic
(Jan 15, 1997)
no assertion criteria provided
80.
GRCh37:
Chr12:48240233
GRCh38:
Chr12:47846450
VDRnot specified, Vitamin D-Dependent RicketsConflicting interpretations of pathogenicity
(Nov 7, 2016)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr12:48240248
GRCh38:
Chr12:47846465
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr12:48240458
GRCh38:
Chr12:47846675
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr12:48240462
GRCh38:
Chr12:47846679
VDRVitamin D-dependent rickets, type 2Pathogenic
(Dec 1, 1990)
no assertion criteria provided
84.
GRCh37:
Chr12:48240526
GRCh38:
Chr12:47846743
VDRVitamin D-dependent rickets, type 2Pathogenic
(Jul 1, 1993)
no assertion criteria provided
85.
GRCh37:
Chr12:48249400
GRCh38:
Chr12:47855617
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr12:48251295
GRCh38:
Chr12:47857512
VDRVitamin D-dependent rickets, type 2Pathogenic
(Jul 1, 1993)
no assertion criteria provided
87.
GRCh37:
Chr12:48251476
GRCh38:
Chr12:47857693
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr12:48258848
GRCh38:
Chr12:47865065
VDRnot providedUncertain significanceno assertion criteria provided
89.
GRCh37:
Chr12:48258868
GRCh38:
Chr12:47865085
VDRVitamin D-dependent rickets, type 2Pathogenic
(Apr 1, 1990)
no assertion criteria provided
90.
GRCh37:
Chr12:48258869
GRCh38:
Chr12:47865086
VDRnot providedUncertain significanceno assertion criteria provided
91.
GRCh37:
Chr12:48258889
GRCh38:
Chr12:47865106
VDRVitamin D-dependent rickets, type 2, not providedUncertain significance
(Jun 30, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr12:48258958
GRCh38:
Chr12:47865175
VDRVitamin D-dependent rickets, type 2Pathogenic
(Sep 1, 1991)
no assertion criteria provided
93.
GRCh37:
Chr12:48272742
GRCh38:
Chr12:47878959
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr12:48272743
GRCh38:
Chr12:47878960
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr12:48272760
GRCh38:
Chr12:47878977
VDRVitamin D-dependent rickets, type 2Pathogenic
(Jul 1, 1996)
no assertion criteria provided
96.
GRCh37:
Chr12:48272799
GRCh38:
Chr12:47879016
VDRVitamin D-dependent rickets, type 2Pathogenic
(Dec 23, 1988)
no assertion criteria provided
97.
GRCh37:
Chr12:48272809
GRCh38:
Chr12:47879026
VDRVitamin D-dependent rickets, type 2Pathogenic
(Feb 1, 1998)
no assertion criteria provided
98.
GRCh37:
Chr12:48272895
GRCh38:
Chr12:47879112
VDRnot specified, Vitamin D-Dependent Rickets, peginterferon alfa-2b and ribavirin response - Efficacy
drug response
(Mar 1, 2017)
reviewed by expert panel
99.
GRCh37:
Chr12:48276486
GRCh38:
Chr12:47882703
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr12:48293605
GRCh38:
Chr12:47899822
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
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