| - GRCh37:
- Chr16:72046022
- GRCh38:
- Chr16:72012123
| DHODH | G32V | Miller syndrome | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr16:72048399
- GRCh38:
- Chr16:72014500
| DHODH | R88* | Miller syndrome | Uncertain significance
(Oct 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72056286
- GRCh38:
- Chr16:72022387
| DHODH | R244Q | Miller syndrome | Uncertain significance
(Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72055121
- GRCh38:
- Chr16:72021222
| DHODH | D206N | Miller syndrome | Uncertain significance
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72046031
- GRCh38:
- Chr16:72012132
| DHODH | R35H | Miller syndrome, not provided | Uncertain significance
(Feb 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72057196
- GRCh38:
- Chr16:72023297
| DHODH | E318* | Miller syndrome | Likely pathogenic
(Feb 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72050885
- GRCh38:
- Chr16:72016986
| DHODH | | not provided, Miller syndrome | Benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72054984
- GRCh38:
- Chr16:72021085
| DHODH | | Miller syndrome, not provided | Benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72048382-72048395
- GRCh38:
- Chr16:72014483-72014496
| DHODH | L83fs | not provided, Miller syndrome | Pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72058893
- GRCh38:
- Chr16:72024994
| DHODH | | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058743
- GRCh38:
- Chr16:72024844
| DHODH | | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72042677
- GRCh38:
- Chr16:72008778
| DHODH | H5R | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72055111
- GRCh38:
- Chr16:72021212
| DHODH | | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058481
- GRCh38:
- Chr16:72024582
| LOC126862390, DHODH | | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058470
- GRCh38:
- Chr16:72024571
| DHODH, LOC126862390 | | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058447
- GRCh38:
- Chr16:72024548
| DHODH, LOC126862390 | | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058439
- GRCh38:
- Chr16:72024540
| DHODH, LOC126862390 | | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058314
- GRCh38:
- Chr16:72024415
| DHODH, LOC126862390 | | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058242
- GRCh38:
- Chr16:72024343
| DHODH, LOC126862390 | | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72057447
- GRCh38:
- Chr16:72023548
| DHODH, LOC126862390 | S350A | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72055051
- GRCh38:
- Chr16:72021152
| DHODH | | Miller syndrome | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72055012
- GRCh38:
- Chr16:72021113
| DHODH | | Miller syndrome, not provided | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:72050993
- GRCh38:
- Chr16:72017094
| DHODH | K169Q | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72050986
- GRCh38:
- Chr16:72017087
| DHODH | | Miller syndrome | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72059034
- GRCh38:
- Chr16:72025135
| DHODH | | Miller syndrome | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058966
- GRCh38:
- Chr16:72025067
| DHODH | | Miller syndrome | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72057442
- GRCh38:
- Chr16:72023543
| DHODH, LOC126862390 | G348A | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72057382
- GRCh38:
- Chr16:72023483
| DHODH, LOC126862390 | P328L | not provided, Miller syndrome | Conflicting interpretations of pathogenicity
(Nov 27, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:72057228
- GRCh38:
- Chr16:72023329
| DHODH | | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72046000
- GRCh38:
- Chr16:72012101
| DHODH | A25T | Inborn genetic diseases, Miller syndrome, not provided
| Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:72045999
- GRCh38:
- Chr16:72012100
| DHODH | F24L | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72057419
- GRCh38:
- Chr16:72023520
| DHODH, LOC126862390 | | not provided, Miller syndrome | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:72056320
- GRCh38:
- Chr16:72022421
| DHODH | | not provided, Miller syndrome | Likely benign
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72042635
- GRCh38:
- Chr16:72008736
| DHODH | | not provided, Miller syndrome | Benign/Likely benign
(Dec 17, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72059272
- GRCh38:
- Chr16:72025373
| DHODH | | Miller syndrome | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72059269
- GRCh38:
- Chr16:72025370
| DHODH | | Miller syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72059186
- GRCh38:
- Chr16:72025287
| DHODH | | Miller syndrome | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72059149
- GRCh38:
- Chr16:72025250
| DHODH | | Miller syndrome | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72059131-72059134
- GRCh38:
- Chr16:72025232-72025235
| DHODH | | Miller syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72059112
- GRCh38:
- Chr16:72025213
| DHODH | | Miller syndrome | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72059078
- GRCh38:
- Chr16:72025179
| DHODH | | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058939
- GRCh38:
- Chr16:72025040
| DHODH | | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058917
- GRCh38:
- Chr16:72025018
| DHODH | | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058881
- GRCh38:
- Chr16:72024982
| DHODH | | Miller syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058846
- GRCh38:
- Chr16:72024947
| DHODH | | Miller syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058710
- GRCh38:
- Chr16:72024811
| DHODH | | Miller syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058693
- GRCh38:
- Chr16:72024794
| DHODH | | Miller syndrome | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058672
- GRCh38:
- Chr16:72024773
| DHODH | | Miller syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058667
- GRCh38:
- Chr16:72024768
| DHODH | | Miller syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058598
- GRCh38:
- Chr16:72024699
| DHODH | | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058502
- GRCh38:
- Chr16:72024603
| DHODH, LOC126862390 | | Miller syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058350
- GRCh38:
- Chr16:72024451
| LOC126862390, DHODH | | Miller syndrome | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058287
- GRCh38:
- Chr16:72024388
| DHODH, LOC126862390 | | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058237
- GRCh38:
- Chr16:72024338
| DHODH, LOC126862390 | | Miller syndrome | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058162
- GRCh38:
- Chr16:72024263
| DHODH, LOC126862390 | | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72058112
- GRCh38:
- Chr16:72024213
| DHODH, LOC126862390 | | Miller syndrome | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72057408
- GRCh38:
- Chr16:72023509
| DHODH, LOC126862390 | S337C | Inborn genetic diseases, Miller syndrome | Uncertain significance
(Sep 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72057203
- GRCh38:
- Chr16:72023304
| DHODH | Y320C | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72057203
- GRCh38:
- Chr16:72023304
| DHODH | Y320S | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72057193
- GRCh38:
- Chr16:72023294
| DHODH | R317W | not provided, Miller syndrome | Conflicting interpretations of pathogenicity
(Dec 22, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:72057134
- GRCh38:
- Chr16:72023235
| DHODH | R297H | not provided, Miller syndrome | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72057125
- GRCh38:
- Chr16:72023226
| DHODH | G294D | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72057113
- GRCh38:
- Chr16:72023214
| DHODH | A290V | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72057064
- GRCh38:
- Chr16:72023165
| DHODH | | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72056384
- GRCh38:
- Chr16:72022485
| DHODH | | not provided, Miller syndrome | Benign/Likely benign
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72056362
- GRCh38:
- Chr16:72022463
| DHODH | S269R | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72056359
- GRCh38:
- Chr16:72022460
| DHODH | | not provided, Miller syndrome | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:72056308
- GRCh38:
- Chr16:72022409
| DHODH | | not provided, Miller syndrome | Conflicting interpretations of pathogenicity
(Nov 28, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:72055187
- GRCh38:
- Chr16:72021288
| DHODH | E228K | Miller syndrome | Uncertain significance
(Mar 4, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72055186
- GRCh38:
- Chr16:72021287
| DHODH | | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72055171
- GRCh38:
- Chr16:72021272
| DHODH | S222R | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72055160
- GRCh38:
- Chr16:72021261
| DHODH | G219R | not provided, Miller syndrome, Inborn genetic diseases
| Uncertain significance
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72055075
- GRCh38:
- Chr16:72021176
| DHODH | | not provided, Miller syndrome | Conflicting interpretations of pathogenicity
(Sep 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:72051013
- GRCh38:
- Chr16:72017114
| DHODH | | Miller syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72050980
- GRCh38:
- Chr16:72017081
| DHODH | Q164H | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72050945
- GRCh38:
- Chr16:72017046
| DHODH | L153I | not provided, Miller syndrome | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72046081
- GRCh38:
- Chr16:72012182
| DHODH | E52Q | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72045999
- GRCh38:
- Chr16:72012100
| DHODH | | not provided, Miller syndrome | Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72045938
- GRCh38:
- Chr16:72012039
| DHODH | | Miller syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72055078
- GRCh38:
- Chr16:72021179
| DHODH | | not specified, not provided, Miller syndrome
| Benign/Likely benign
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72048431
- GRCh38:
- Chr16:72014532
| DHODH | | Miller syndrome, not specified, not provided
| Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72042682
- GRCh38:
- Chr16:72008783
| DHODH | K7Q | Miller syndrome, not specified, not provided
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72057421
- GRCh38:
- Chr16:72023522
| DHODH, LOC126862390 | A341V | not specified, not provided, Miller syndrome
| Benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72055100
- GRCh38:
- Chr16:72021201
| DHODH | R199C | Miller syndrome | Pathogenic
(Jan 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:72055116
- GRCh38:
- Chr16:72021217
| DHODH | L204fs | Miller syndrome | Pathogenic
(Jan 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:72056285
- GRCh38:
- Chr16:72022386
| DHODH | R244W | Miller syndrome | Pathogenic
(Jan 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:72055110
- GRCh38:
- Chr16:72021211
| DHODH | G202D | Miller syndrome | Pathogenic
(Jan 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:72055110
- GRCh38:
- Chr16:72021211
| DHODH | G202A | Miller syndrome | Pathogenic
(Jan 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:72050942
- GRCh38:
- Chr16:72017043
| DHODH | G152R | not provided, Miller syndrome | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72045983
- GRCh38:
- Chr16:72012084
| DHODH | G19E | not provided | Uncertain significance
(Jan 22, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:72048540
- GRCh38:
- Chr16:72014641
| DHODH | R135C | not provided, Miller syndrome | Pathogenic/Likely pathogenic
(Jul 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:72057435
- GRCh38:
- Chr16:72023536
| DHODH, LOC126862390 | R346W | Miller syndrome, not provided | Likely pathogenic
(Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |