| - GRCh37:
- Chr3:123167066
- GRCh38:
- Chr3:123448219
| ADCY5 | D109E | Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr3:123014933
- GRCh38:
- Chr3:123296086
| ADCY5 | Q1021*, Q1046*, Q671* | Dyskinesia with orofacial involvement, autosomal dominant | Likely pathogenic
(Nov 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123071328
- GRCh38:
- Chr3:123352481
| ADCY5 | R412L, R62L | Dyskinesia with orofacial involvement, autosomal dominant | Likely pathogenic
(Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123167041
- GRCh38:
- Chr3:123448194
| ADCY5 | Q118E | Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance
(Oct 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123166788-123166789
- GRCh38:
- Chr3:123447941-123447942
| ADCY5 | | Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance
(Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123167392-123167393
- GRCh38:
- Chr3:123448545-123448546
| ADCY5 | M1fs | Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance
(Apr 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123036943
- GRCh38:
- Chr3:123318096
| ADCY5 | R410*, R760* | Dyskinesia with orofacial involvement, autosomal dominant, not provided | Pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123044185
- GRCh38:
- Chr3:123325338
| ADCY5 | K341M, K691M | Dyskinesia with orofacial involvement, autosomal dominant | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123010213
- GRCh38:
- Chr3:123291366
| ADCY5 | E1025G, E1050G, E675G | Dyskinesia with orofacial involvement, autosomal dominant | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123044183
- GRCh38:
- Chr3:123325336
| ADCY5 | E342K, E692K | not provided, Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance
(Jan 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123166761
- GRCh38:
- Chr3:123447914
| ADCY5 | A211V | Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr3:123166744
- GRCh38:
- Chr3:123447897
| ADCY5 | R217C | Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance
(Jan 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123166696
- GRCh38:
- Chr3:123447849
| ADCY5 | Y233H | Dyskinesia with orofacial involvement, autosomal dominant | Pathogenic
(Dec 9, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr3:123014949
- GRCh38:
- Chr3:123296102
| ADCY5 | D1015E, D1040E, D665E | Dyskinesia with orofacial involvement, autosomal dominant | Pathogenic
(Dec 9, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr3:123008577
- GRCh38:
- Chr3:123289730
| ADCY5 | | Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, not provided,
Dyskinesia with orofacial involvement, autosomal dominant | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123049707
- GRCh38:
- Chr3:123330860
| ADCY5 | | Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, not provided,
Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123046573
- GRCh38:
- Chr3:123327726
| ADCY5 | | Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, not provided,
Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123010276
- GRCh38:
- Chr3:123291429
| ADCY5 | | Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, not provided,
Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123049678
- GRCh38:
- Chr3:123330831
| ADCY5 | | Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, not provided,
Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123014904
- GRCh38:
- Chr3:123296057
| ADCY5 | | Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, Dyskinesia with orofacial involvement, autosomal dominant,
not provided | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123037043
- GRCh38:
- Chr3:123318196
| ADCY5 | | Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, not provided,
Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123039496
- GRCh38:
- Chr3:123320649
| ADCY5 | | Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, not provided,
Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123167042
- GRCh38:
- Chr3:123448195
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia,
Dyskinesia with orofacial involvement, autosomal dominant | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123066555-123066556
- GRCh38:
- Chr3:123347708-123347709
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123049938
- GRCh38:
- Chr3:123331091
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123037047
- GRCh38:
- Chr3:123318200
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123021870
- GRCh38:
- Chr3:123303023
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123021838
- GRCh38:
- Chr3:123302991
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123015094
- GRCh38:
- Chr3:123296247
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123014877
- GRCh38:
- Chr3:123296030
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia,
Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123008519
- GRCh38:
- Chr3:123289672
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123044169-123044177
- GRCh38:
- Chr3:123325322-123325330
| ADCY5 | | Dyskinesia with orofacial involvement, autosomal dominant | Pathogenic
(Feb 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr3:123167364
- GRCh38:
- Chr3:123448517
| ADCY5 | P10L | not provided, Dyskinesia with orofacial involvement, autosomal dominant, Dyskinesia with orofacial involvement, autosomal recessive,
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123018963
- GRCh38:
- Chr3:123300116
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant, Dyskinesia with orofacial involvement, autosomal recessive,
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123166640
- GRCh38:
- Chr3:123447793
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia,
Dyskinesia with orofacial involvement, autosomal recessive | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123039584
- GRCh38:
- Chr3:123320737
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia,
Dyskinesia with orofacial involvement, autosomal recessive | Benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123167151
- GRCh38:
- Chr3:123448304
| ADCY5 | P81L | not provided, Dyskinesia with orofacial involvement, autosomal dominant, Dyskinesia with orofacial involvement, autosomal recessive,
Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | Conflicting interpretations of pathogenicity
(Apr 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:123010241
- GRCh38:
- Chr3:123291394
| ADCY5 | | Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive,
not provided, Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia,
Dyskinesia with orofacial involvement, autosomal dominant | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123167249
- GRCh38:
- Chr3:123448402
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123047478
- GRCh38:
- Chr3:123328631
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia,
Dyskinesia with orofacial involvement, autosomal recessive | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123166993
- GRCh38:
- Chr3:123448146
| ADCY5 | G134S | not provided, Inborn genetic diseases, Dyskinesia with orofacial involvement, autosomal dominant,
Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal dominant
| Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:123166998
- GRCh38:
- Chr3:123448151
| ADCY5 | P132R | Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance
(Apr 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123166890
- GRCh38:
- Chr3:123448043
| ADCY5 | R168H | Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance
(Sep 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123023044
- GRCh38:
- Chr3:123304197
| ADCY5 | | Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance
(Nov 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123005576
- GRCh38:
- Chr3:123286729
| ADCY5 | V1230M, V855M, V1205M | Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123167154-123167156
- GRCh38:
- Chr3:123448307-123448309
| ADCY5 | D80del | Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance
(Apr 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123047546
- GRCh38:
- Chr3:123328699
| ADCY5 | V584I, V234I | Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance
(May 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123066713
- GRCh38:
- Chr3:123347866
| ADCY5 | A441V, A91V | Dyskinesia with orofacial involvement, autosomal dominant | Likely pathogenic
(Jun 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123066657
- GRCh38:
- Chr3:123347810
| ADCY5 | I110F, I460F | Dyskinesia with orofacial involvement, autosomal dominant | Likely pathogenic
(Sep 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123044186
- GRCh38:
- Chr3:123325339
| ADCY5 | K691E, K341E | Dyskinesia with orofacial involvement, autosomal dominant | Likely pathogenic
(May 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123166933-123166934
- GRCh38:
- Chr3:123448086-123448087
| ADCY5 | R154fs | Dyskinesia with orofacial involvement, autosomal dominant | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123049803
- GRCh38:
- Chr3:123330956
| ADCY5 | P177T, P527T | Dyskinesia with orofacial involvement, autosomal dominant | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123047666
- GRCh38:
- Chr3:123328819
| ADCY5 | | Dyskinesia with orofacial involvement, autosomal dominant, not provided | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123010213
- GRCh38:
- Chr3:123291366
| ADCY5 | E1025A, E675A, E1050A | Dyskinesia with orofacial involvement, autosomal dominant | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123003464
- GRCh38:
- Chr3:123284617
| ADCY5 | | Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, not provided,
Dyskinesia with orofacial involvement, autosomal dominant | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123066758
- GRCh38:
- Chr3:123347911
| ADCY5 | | Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, not provided,
Dyskinesia with orofacial involvement, autosomal dominant | Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123008754
- GRCh38:
- Chr3:123289907
| ADCY5 | | Dyskinesia with orofacial involvement, autosomal dominant, Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia,
not provided, Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia,
Dyskinesia with orofacial involvement, autosomal dominant | Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123166577
- GRCh38:
- Chr3:123447730
| ADCY5 | | Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, not provided,
Dyskinesia with orofacial involvement, autosomal dominant | Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123014982
- GRCh38:
- Chr3:123296135
| ADCY5 | | Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, not provided,
Dyskinesia with orofacial involvement, autosomal dominant | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123003545
- GRCh38:
- Chr3:123284698
| ADCY5 | | Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive,
not provided | Benign/Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123166430
- GRCh38:
- Chr3:123447583
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia,
Dyskinesia with orofacial involvement, autosomal recessive | Benign/Likely benign
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123167263
- GRCh38:
- Chr3:123448416
| ADCY5 | H44Y | not provided, Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia,
Dyskinesia with orofacial involvement, autosomal recessive | Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123014979
- GRCh38:
- Chr3:123296132
| ADCY5 | | not provided, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive,
Dyskinesia with orofacial involvement, autosomal dominant | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123066756
- GRCh38:
- Chr3:123347909
| ADCY5 | | Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal dominant,
not provided, Inborn genetic diseases | Benign/Likely benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123022992
- GRCh38:
- Chr3:123304145
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia,
Dyskinesia with orofacial involvement, autosomal recessive, Dyskinesia with orofacial involvement, autosomal dominant, Dyskinesia with orofacial involvement, autosomal recessive,
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | Benign/Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123167293
- GRCh38:
- Chr3:123448446
| ADCY5 | E34Q | Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance
(Aug 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123167089
- GRCh38:
- Chr3:123448242
| ADCY5 | A102T | not provided, Dyskinesia with orofacial involvement, autosomal dominant, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Dec 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:123010118
- GRCh38:
- Chr3:123291271
| ADCY5 | R1057W, R707W, R1082W | not provided, Dyskinesia with orofacial involvement, autosomal dominant | Uncertain significance
(May 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123046510
- GRCh38:
- Chr3:123327663
| ADCY5 | E634D, E284D | Dyskinesia with orofacial involvement, autosomal dominant, not provided | Conflicting interpretations of pathogenicity
(Sep 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:123044168
- GRCh38:
- Chr3:123325321
| ADCY5 | | not provided, Dyskinesia with orofacial involvement, autosomal dominant | Pathogenic
(Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123071310
- GRCh38:
- Chr3:123352463
| ADCY5 | R418Q, R68Q | Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental delay, See cases,
not provided | Pathogenic
(Sep 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123044168
- GRCh38:
- Chr3:123325321
| ADCY5 | | Dyskinesia with orofacial involvement, autosomal dominant | Pathogenic
(Nov 17, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:123010201
- GRCh38:
- Chr3:123291354
| ADCY5 | M1029K, M679K, M1054K | Dyskinesia with orofacial involvement, autosomal dominant | Pathogenic
(Jan 14, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr3:123038601
- GRCh38:
- Chr3:123319754
| ADCY5 | A726T, A376T | not provided, Dyskinesia with orofacial involvement, autosomal dominant | Pathogenic
(Mar 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123071311
- GRCh38:
- Chr3:123352464
| ADCY5 | R418W, R68W | Inborn genetic diseases, not provided, Dyskinesia with orofacial involvement, autosomal dominant
| Pathogenic
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |