| - GRCh37:
- Chr20:25295578-25295579
- GRCh38:
- Chr20:25314942-25314943
| ABHD12 | V201fs | PHARC syndrome | Pathogenic
(Oct 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25288682
- GRCh38:
- Chr20:25308046
| ABHD12 | | PHARC syndrome | Likely pathogenic
(Sep 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr20:25368401-25373804
- GRCh38:
- Chr20:25387765-25393168
| ABHD12, LOC130065583, LOC130065584, LOC130065585, LOC130065586 | | PHARC syndrome | Pathogenic
(Oct 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25297713
- GRCh38:
- Chr20:25317077
| ABHD12 | G182R | PHARC syndrome | Uncertain significance
(May 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25371246
- GRCh38:
- Chr20:25390610
| ABHD12, LOC130065586 | A32S | Inborn genetic diseases, PHARC syndrome, not provided
| Uncertain significance
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25284200
- GRCh38:
- Chr20:25303564
| ABHD12 | Q339* | PHARC syndrome | Pathogenic
(Jul 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25371125
- GRCh38:
- Chr20:25390489
| ABHD12, LOC130065585 | | not provided, PHARC syndrome | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25371113-25371118
- GRCh38:
- Chr20:25390477-25390482
| ABHD12, LOC130065585 | | not provided, PHARC syndrome | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25284343
- GRCh38:
- Chr20:25303707
| ABHD12 | | PHARC syndrome, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25283938-25283939
- GRCh38:
- Chr20:25303302-25303303
| ABHD12 | | PHARC syndrome, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25290211
- GRCh38:
- Chr20:25309575
| ABHD12, LOC126863008 | G207V | PHARC syndrome, not provided | Uncertain significance
(Feb 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25288600
- GRCh38:
- Chr20:25307964
| ABHD12 | | PHARC syndrome, not provided | Conflicting interpretations of pathogenicity
(Jun 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25290178
- GRCh38:
- Chr20:25309542
| ABHD12, LOC126863008 | R218Q | PHARC syndrome, not provided | Uncertain significance
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25284248
- GRCh38:
- Chr20:25303612
| ABHD12 | C323R | PHARC syndrome, not provided | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25371314
- GRCh38:
- Chr20:25390678
| ABHD12, LOC130065586 | A9V | PHARC syndrome, not provided | Uncertain significance
(Jul 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25371203
- GRCh38:
- Chr20:25390567
| ABHD12, LOC130065586 | A46G | PHARC syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25281459
- GRCh38:
- Chr20:25300823
| ABHD12 | | not provided, PHARC syndrome | Conflicting interpretations of pathogenicity
(Jun 23, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25281332
- GRCh38:
- Chr20:25300696
| ABHD12 | | PHARC syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25281304
- GRCh38:
- Chr20:25300668
| ABHD12 | | PHARC syndrome | Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25371173
- GRCh38:
- Chr20:25390537
| ABHD12 | A56V | PHARC syndrome, not provided | Uncertain significance
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25371134
- GRCh38:
- Chr20:25390498
| ABHD12, LOC130065585 | | PHARC syndrome, not provided | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25319929
- GRCh38:
- Chr20:25339293
| ABHD12 | I84V | PHARC syndrome, not provided | Uncertain significance
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25281150
- GRCh38:
- Chr20:25300514
| ABHD12 | | PHARC syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25281150
- GRCh38:
- Chr20:25300514
| ABHD12 | | PHARC syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25300829
- GRCh38:
- Chr20:25320193
| ABHD12 | | PHARC syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25290113
- GRCh38:
- Chr20:25309477
| ABHD12, LOC126863008 | V240M | not provided, PHARC syndrome | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25288677
- GRCh38:
- Chr20:25308041
| ABHD12 | | not provided, PHARC syndrome | Conflicting interpretations of pathogenicity
(Oct 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25280940
- GRCh38:
- Chr20:25300304
| ABHD12 | | PHARC syndrome | Benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25287544
- GRCh38:
- Chr20:25306908
| ABHD12 | R292Q | not provided, PHARC syndrome | Uncertain significance
(Sep 12, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25284255
- GRCh38:
- Chr20:25303619
| ABHD12 | | PHARC syndrome, not provided | Conflicting interpretations of pathogenicity
(Apr 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25282968
- GRCh38:
- Chr20:25302332
| ABHD12 | | not provided, PHARC syndrome | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25319864
- GRCh38:
- Chr20:25339228
| ABHD12 | | PHARC syndrome, not provided | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25301022
- GRCh38:
- Chr20:25320386
| ABHD12 | | PHARC syndrome, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25282883-25282888
- GRCh38:
- Chr20:25302247-25302252
| ABHD12 | | PHARC syndrome | Likely pathogenic
(Mar 22, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25319930
- GRCh38:
- Chr20:25339294
| ABHD12 | Y83* | PHARC syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr20:25287545
- GRCh38:
- Chr20:25306909
| ABHD12 | R292* | PHARC syndrome, not provided | Pathogenic/Likely pathogenic
(Oct 16, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25290213
- GRCh38:
- Chr20:25309577
| ABHD12, LOC126863008 | | PHARC syndrome, Retinal dystrophy | Likely pathogenic
(Jan 1, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr20:25319956-25319968
- GRCh38:
- Chr20:25339320-25339332
| ABHD12 | R71fs | not provided | Pathogenic
(Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25288633
- GRCh38:
- Chr20:25307997
| ABHD12 | R279H | PHARC syndrome, not provided | Uncertain significance
(Oct 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25280832
- GRCh38:
- Chr20:25300196
| ABHD12 | | PHARC syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25371599
- GRCh38:
- Chr20:25390963
| ABHD12, LOC130065586 | | PHARC syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25371560
- GRCh38:
- Chr20:25390924
| ABHD12, LOC130065586 | | PHARC syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25371559
- GRCh38:
- Chr20:25390923
| ABHD12, LOC130065586 | | not provided, PHARC syndrome | Benign
(Nov 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25371457
- GRCh38:
- Chr20:25390821
| ABHD12, LOC130065586 | | PHARC syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25371433
- GRCh38:
- Chr20:25390797
| ABHD12, LOC130065586 | | not provided, PHARC syndrome | Benign
(Jul 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25371415-25371421
- GRCh38:
- Chr20:25390779-25390785
| ABHD12, LOC130065586 | | PHARC syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25371383
- GRCh38:
- Chr20:25390747
| ABHD12, LOC130065586 | | not provided, PHARC syndrome | Conflicting interpretations of pathogenicity
(Jun 29, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25371378-25371379
- GRCh38:
- Chr20:25390742-25390743
| ABHD12, LOC130065586 | | not provided, PHARC syndrome | Benign
(Jun 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25319977
- GRCh38:
- Chr20:25339341
| ABHD12 | V68M | PHARC syndrome, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25319976
- GRCh38:
- Chr20:25339340
| ABHD12 | V68A | not provided, PHARC syndrome | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25304049
- GRCh38:
- Chr20:25323413
| ABHD12 | I112F | PHARC syndrome, not provided | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25300924
- GRCh38:
- Chr20:25320288
| ABHD12 | | not provided, PHARC syndrome | Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25297727
- GRCh38:
- Chr20:25317091
| ABHD12 | | PHARC syndrome, not provided | Conflicting interpretations of pathogenicity
(May 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25289111
- GRCh38:
- Chr20:25308475
| ABHD12 | R257W | PHARC syndrome, not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25288667
- GRCh38:
- Chr20:25308031
| ABHD12 | A268S | PHARC syndrome, not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25288611
- GRCh38:
- Chr20:25307975
| ABHD12 | | PHARC syndrome, not provided | Conflicting interpretations of pathogenicity
(Jul 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25281502
- GRCh38:
- Chr20:25300866
| ABHD12 | | not provided, PHARC syndrome | Benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25281436
- GRCh38:
- Chr20:25300800
| ABHD12 | | PHARC syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25281398
- GRCh38:
- Chr20:25300762
| ABHD12 | | PHARC syndrome, not provided | Benign
(Jun 24, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25281333
- GRCh38:
- Chr20:25300697
| ABHD12 | | PHARC syndrome, not provided | Benign
(Nov 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25281184
- GRCh38:
- Chr20:25300548
| ABHD12 | | PHARC syndrome, not provided | Benign
(Nov 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25281160
- GRCh38:
- Chr20:25300524
| ABHD12 | | PHARC syndrome | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25281160-25281161
- GRCh38:
- Chr20:25300524-25300525
| ABHD12 | | PHARC syndrome | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25281128
- GRCh38:
- Chr20:25300492
| ABHD12 | | PHARC syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25281104
- GRCh38:
- Chr20:25300468
| ABHD12 | | PHARC syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25281067
- GRCh38:
- Chr20:25300431
| ABHD12 | | PHARC syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25281027
- GRCh38:
- Chr20:25300391
| ABHD12 | | PHARC syndrome | Likely benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25282971
- GRCh38:
- Chr20:25302335
| ABHD12 | | PHARC syndrome, not provided | Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25284244
- GRCh38:
- Chr20:25303608
| ABHD12 | P324L | PHARC syndrome | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr20:25364310-25378180
- GRCh38:
- Chr20:25383675-25397545
| ABHD12, LOC130065583, LOC130065584, LOC130065585, LOC130065586 | | PHARC syndrome | Pathogenic
(Aug 18, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25281489
- GRCh38:
- Chr20:25300853
| ABHD12 | Q397* | PHARC syndrome, not provided | Uncertain significance
(May 21, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25297700
- GRCh38:
- Chr20:25317064
| ABHD12 | R186P | PHARC syndrome, Cone dystrophy | Conflicting interpretations of pathogenicity
(Sep 1, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr20:25300900
- GRCh38:
- Chr20:25320264
| ABHD12 | W159* | PHARC syndrome | Pathogenic
(Aug 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr20:25282896
- GRCh38:
- Chr20:25302260
| ABHD12 | H372Q | PHARC syndrome | Pathogenic
(Aug 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr20:25288632
- GRCh38:
- Chr20:25307996
| ABHD12 | | not specified, not provided, PHARC syndrome
| Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25282944
- GRCh38:
- Chr20:25302308
| ABHD12 | | not specified, not provided, PHARC syndrome
| Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25282967
- GRCh38:
- Chr20:25302331
| ABHD12 | A349T | not specified, not provided, PHARC syndrome
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25282958
- GRCh38:
- Chr20:25302322
| ABHD12 | R352* | PHARC syndrome, not provided | Pathogenic
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25288616-25288617
- GRCh38:
- Chr20:25307980-25307981
| ABHD12 | H285* | PHARC syndrome | Pathogenic
(Sep 10, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr20:25364147-25378237
- GRCh38:
- Chr20:25383511-25397601
| ABHD12, LOC130065583, LOC130065584, LOC130065585, LOC130065586 | | PHARC syndrome | Pathogenic
(Sep 10, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr20:25304045-25304046
- GRCh38:
- Chr20:25323409-25323410
| ABHD12 | D113fs | not provided | Pathogenic
(Nov 18, 2022) | criteria provided, single submitter |