| - GRCh37:
- Chr20:52789533
- GRCh38:
- Chr20:54172994
| CYP24A1 | E122* | Hypercalcemia, infantile, 1 | Pathogenic
(Dec 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52782373
- GRCh38:
- Chr20:54165834
| CYP24A1 | | Hypercalcemia, infantile, 1 | Pathogenic
(Dec 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52789531
- GRCh38:
- Chr20:54172992
| CYP24A1 | E122D | Hypercalcemia, infantile, 1, not provided | Uncertain significance
(Feb 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52789885-52789886
- GRCh38:
- Chr20:54173346-54173347
| CYP24A1 | G78fs | Hypercalcemia, infantile, 1 | Likely pathogenic
(Dec 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52789947
- GRCh38:
- Chr20:54173408
| CYP24A1 | | Hypercalcemia, infantile, 1, not provided | Likely benign
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52781020
- GRCh38:
- Chr20:54164481
| CYP24A1 | T272S | not provided, Hypercalcemia, infantile, 1 | Uncertain significance
(Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52775550
- GRCh38:
- Chr20:54159011
| CYP24A1 | A368E | Hypercalcemia, infantile, 1, Inborn genetic diseases, not provided
| Uncertain significance
(Mar 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52788126
- GRCh38:
- Chr20:54171587
| CYP24A1 | K178R | not provided, Hypercalcemia, infantile, 1 | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:52786173
- GRCh38:
- Chr20:54169634
| CYP24A1 | V200I | not provided, Hypercalcemia, infantile, 1 | Uncertain significance
(Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52790026
- GRCh38:
- Chr20:54173487
| CYP24A1 | | not specified, not provided, Hypercalcemia, infantile, 1
| Likely benign
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52774093
- GRCh38:
- Chr20:54157554
| CYP24A1 | G423V | Hypercalcemia, infantile, 1 | Uncertain significance
(May 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52774051
- GRCh38:
- Chr20:54157512
| CYP24A1 | P437H | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52782328
- GRCh38:
- Chr20:54165789
| CYP24A1 | K229* | Hypercalcemia, infantile, 1 | Likely pathogenic
(Mar 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52769985-52790525
| CYP24A1 | | Hypercalcemia, infantile, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr20:52786155
- GRCh38:
- Chr20:54169616
| CYP24A1 | E206K | not provided, Hypercalcemia, infantile, 1 | Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52773965
- GRCh38:
- Chr20:54157426
| CYP24A1 | R466* | not provided, Hypercalcemia, infantile, 1 | Pathogenic
(Jun 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52789472
- GRCh38:
- Chr20:54172933
| CYP24A1 | K142R | not provided, Hypercalcemia, infantile, 1 | Uncertain significance
(Aug 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52789445-52789446
- GRCh38:
- Chr20:54172906-54172907
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(May 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52781002
- GRCh38:
- Chr20:54164463
| CYP24A1 | I278T | Hypercalcemia, infantile, 1 | Uncertain significance
(Jun 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52789944
- GRCh38:
- Chr20:54173405
| CYP24A1 | P59S | not provided, Hypercalcemia, infantile, 1 | Uncertain significance
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52779342
- GRCh38:
- Chr20:54162803
| CYP24A1 | L302F | not provided, Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52774674
- GRCh38:
- Chr20:54158135
| CYP24A1 | R396Q | not provided, Hypercalcemia, infantile, 1 | Pathogenic/Likely pathogenic
(Aug 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52774046
- GRCh38:
- Chr20:54157507
| CYP24A1 | R439C | Hypercalcemia, infantile, 1, not provided | Conflicting interpretations of pathogenicity
(Jun 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:52790230
- GRCh38:
- Chr20:54173691
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52790218
- GRCh38:
- Chr20:54173679
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Benign/Likely benign
(Aug 20, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52781100
- GRCh38:
- Chr20:54164561
| CYP24A1 | M245I | not provided, Hypercalcemia, infantile, 1 | Uncertain significance
(Aug 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52771094
- GRCh38:
- Chr20:54154555
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52774697
- GRCh38:
- Chr20:54158158
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Conflicting interpretations of pathogenicity
(Jul 15, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:52770786
- GRCh38:
- Chr20:54154247
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52770762
- GRCh38:
- Chr20:54154223
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52770595
- GRCh38:
- Chr20:54154056
| CYP24A1 | | Hypercalcemia, infantile, 1 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52789601
- GRCh38:
- Chr20:54173062
| CYP24A1 | M99T | Inborn genetic diseases, Hypercalcemia, infantile, 1 | Uncertain significance
(Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52789521
- GRCh38:
- Chr20:54172982
| CYP24A1 | P126S | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52789500
- GRCh38:
- Chr20:54172961
| CYP24A1 | P133A | Inborn genetic diseases, Hypercalcemia, infantile, 1 | Uncertain significance
(Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52774642
- GRCh38:
- Chr20:54158103
| CYP24A1 | Y407N | not provided, Hypercalcemia, infantile, 1 | Uncertain significance
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52774107
- GRCh38:
- Chr20:54157568
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52774008
- GRCh38:
- Chr20:54157469
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Conflicting interpretations of pathogenicity
(Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:52773992
- GRCh38:
- Chr20:54157453
| CYP24A1 | V457I | not provided, Hypercalcemia, infantile, 1 | Uncertain significance
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52770324
- GRCh38:
- Chr20:54153785
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52770189
- GRCh38:
- Chr20:54153650
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52770176
- GRCh38:
- Chr20:54153637
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52770023
- GRCh38:
- Chr20:54153484
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52788190
- GRCh38:
- Chr20:54171651
| CYP24A1 | | Inborn genetic diseases, not provided, Hypercalcemia, infantile, 1
| Benign/Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52788186
- GRCh38:
- Chr20:54171647
| CYP24A1 | V158A | not provided, Inborn genetic diseases, Hypercalcemia, infantile, 1
| Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:52773750
- GRCh38:
- Chr20:54157211
| CYP24A1 | R439G, R505G | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52773745
- GRCh38:
- Chr20:54157206
| CYP24A1 | E440D, E506D | Hypercalcemia, infantile, 1 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52773735
- GRCh38:
- Chr20:54157196
| CYP24A1 | A510T, A444T | not provided, Hypercalcemia, infantile, 1 | Uncertain significance
(Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52781111
- GRCh38:
- Chr20:54164572
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Likely benign
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52789458
- GRCh38:
- Chr20:54172919
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Likely benign
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52781082
- GRCh38:
- Chr20:54164543
| CYP24A1 | | Hypercalcemia, infantile, 1, not provided | Likely benign
(Aug 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52789512
- GRCh38:
- Chr20:54172973
| CYP24A1 | L129M | not provided, Hypercalcemia, infantile, 1 | Conflicting interpretations of pathogenicity
(Oct 20, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:52789519
- GRCh38:
- Chr20:54172980
| CYP24A1 | | Hypercalcemia, infantile, 1, not provided | Benign/Likely benign
(Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52789969
- GRCh38:
- Chr20:54173430
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Benign/Likely benign
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52775570
- GRCh38:
- Chr20:54159031
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Likely benign
(Mar 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52779338
- GRCh38:
- Chr20:54162799
| CYP24A1 | C303S | not provided, Hypercalcemia, infantile, 1 | Benign/Likely benign
(Dec 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52773734
- GRCh38:
- Chr20:54157195
| CYP24A1 | A510V, A444V | Hypercalcemia, infantile, 1, not provided | Benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52790116
- GRCh38:
- Chr20:54173577
| CYP24A1 | M1I | Hypercalcemia, infantile, 1 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr20:52788189
- GRCh38:
- Chr20:54171650
| CYP24A1 | R157Q | not provided, Hypercalcemia, infantile, 1 | Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:52790057
- GRCh38:
- Chr20:54173518
| CYP24A1 | P21fs | not provided, Hypercalcemia, infantile, 1 | Pathogenic/Likely pathogenic
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52789454
- GRCh38:
- Chr20:54172915
| CYP24A1 | L148P | not provided, Hypercalcemia, infantile, 1 | Pathogenic
(Jan 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52790503
- GRCh38:
- Chr20:54173964
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52790425
- GRCh38:
- Chr20:54173886
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52790272
- GRCh38:
- Chr20:54173733
| CYP24A1 | | Hypercalcemia, infantile, 1 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52790266
- GRCh38:
- Chr20:54173727
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52790253
- GRCh38:
- Chr20:54173714
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52790236
- GRCh38:
- Chr20:54173697
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52790212
- GRCh38:
- Chr20:54173673
| CYP24A1 | | Hypercalcemia, infantile, 1 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52790194
- GRCh38:
- Chr20:54173655
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Benign
(May 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52790168
- GRCh38:
- Chr20:54173629
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52790155
- GRCh38:
- Chr20:54173616
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52790135
- GRCh38:
- Chr20:54173596
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52790046
- GRCh38:
- Chr20:54173507
| CYP24A1 | P25A | not provided, Hypercalcemia, infantile, 1 | Uncertain significance
(Mar 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52790018
- GRCh38:
- Chr20:54173479
| CYP24A1 | T34M | Inborn genetic diseases, not provided, Hypercalcemia, infantile, 1
| Uncertain significance
(May 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52790005
- GRCh38:
- Chr20:54173466
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52789902
- GRCh38:
- Chr20:54173363
| CYP24A1 | I73F | not provided, Hypercalcemia, infantile, 1 | Conflicting interpretations of pathogenicity
(Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:52789885
- GRCh38:
- Chr20:54173346
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52789643
- GRCh38:
- Chr20:54173104
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:52789602
- GRCh38:
- Chr20:54173063
| CYP24A1 | M99V | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52789538
- GRCh38:
- Chr20:54172999
| CYP24A1 | R120L | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52786219
- GRCh38:
- Chr20:54169680
| CYP24A1 | | not specified, not provided, Hypercalcemia, infantile, 1
| Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52786194
- GRCh38:
- Chr20:54169655
| CYP24A1 | L193I | not specified, not provided, Hypercalcemia, infantile, 1
| Benign/Likely benign
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52786167
- GRCh38:
- Chr20:54169628
| CYP24A1 | D202H | not provided, Hypercalcemia, infantile, 1 | Benign/Likely benign
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52786116
- GRCh38:
- Chr20:54169577
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Conflicting interpretations of pathogenicity
(Jul 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:52782318
- GRCh38:
- Chr20:54165779
| CYP24A1 | G232E | not provided, Hypercalcemia, infantile, 1 | Conflicting interpretations of pathogenicity
(Mar 30, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:52782274
- GRCh38:
- Chr20:54165735
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Conflicting interpretations of pathogenicity
(Jul 3, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:52781091
- GRCh38:
- Chr20:54164552
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52781059
- GRCh38:
- Chr20:54164520
| CYP24A1 | L259P | not provided, Hypercalcemia, infantile, 1 | Uncertain significance
(May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52779385
- GRCh38:
- Chr20:54162846
| CYP24A1 | D287E | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52779253
- GRCh38:
- Chr20:54162714
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52779247
- GRCh38:
- Chr20:54162708
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Benign
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52775671
- GRCh38:
- Chr20:54159132
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52775633
- GRCh38:
- Chr20:54159094
| CYP24A1 | | Hypercalcemia, infantile, 1 | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52775555
- GRCh38:
- Chr20:54159016
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52775532
- GRCh38:
- Chr20:54158993
| CYP24A1 | M374T | not provided, Hypercalcemia, infantile, 1 | Benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52775529
- GRCh38:
- Chr20:54158990
| CYP24A1 | P375L | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52775528
- GRCh38:
- Chr20:54158989
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52774654
- GRCh38:
- Chr20:54158115
| CYP24A1 | V403I | not specified, Hypercalcemia, infantile, 1 | Uncertain significance
(Nov 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:52774000
- GRCh38:
- Chr20:54157461
| CYP24A1 | P454L | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52773814
- GRCh38:
- Chr20:54157275
| CYP24A1 | | Hypercalcemia, infantile, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:52773736
- GRCh38:
- Chr20:54157197
| CYP24A1 | | not provided, Hypercalcemia, infantile, 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |