| - GRCh37:
- Chr11:118471370
- GRCh38:
- Chr11:118600655
| ARCN1 | S405C, S493C | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Uncertain significance
(Jun 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118455355
- GRCh38:
- Chr11:118584640
| ARCN1 | E184*, E272* | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Likely pathogenic
(Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118463443
- GRCh38:
- Chr11:118592728
| ARCN1 | K335R, K247R | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, not provided, Inborn genetic diseases
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118461178
- GRCh38:
- Chr11:118590463
| ARCN1 | R226H, R314H | not provided, Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118454066
- GRCh38:
- Chr11:118583351
| ARCN1 | V147A, V59A | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118463439-118463440
- GRCh38:
- Chr11:118592724-118592725
| ARCN1 | D246fs, D334fs | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Pathogenic
(Sep 6, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr11:118454004-118454005
- GRCh38:
- Chr11:118583289-118583290
| ARCN1 | L127fs, L39fs | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Pathogenic
(Sep 6, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr11:118454584
- GRCh38:
- Chr11:118583869
| ARCN1 | R170*, R82* | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Pathogenic
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118454055-118454056
- GRCh38:
- Chr11:118583340-118583341
| ARCN1 | R145fs, R57fs | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Pathogenic
(Jul 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118460957
- GRCh38:
- Chr11:118590242
| ARCN1 | | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Benign
(Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118454595-118454598
- GRCh38:
- Chr11:118583880-118583883
| ARCN1 | E174fs, E86fs | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118461190
- GRCh38:
- Chr11:118590475
| ARCN1 | E230G, E318G | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Uncertain significance
(Aug 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118452188-118452190
- GRCh38:
- Chr11:118581473-118581475
| ARCN1 | E78del | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Likely pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118451901
- GRCh38:
- Chr11:118581186
| ARCN1 | | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, not provided | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118471423
- GRCh38:
- Chr11:118600708
| ARCN1 | | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, not provided | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118468466
- GRCh38:
- Chr11:118597751
| ARCN1 | Y341fs, Y429fs | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Pathogenic
(Feb 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118461171
- GRCh38:
- Chr11:118590456
| ARCN1 | R312*, R224* | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118468499
- GRCh38:
- Chr11:118597784
| ARCN1 | W352*, W440* | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Likely pathogenic
(Nov 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118468436
- GRCh38:
- Chr11:118597721
| ARCN1 | A331V, A419V | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity
(Jul 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:118455293
- GRCh38:
- Chr11:118584578
| ARCN1 | S163F, S251F | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity
(Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:118455180
- GRCh38:
- Chr11:118584465
| ARCN1 | | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Pathogenic/Likely pathogenic
(Feb 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118455327
- GRCh38:
- Chr11:118584612
| ARCN1 | | not provided, Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118468456
- GRCh38:
- Chr11:118597741
| ARCN1 | D426N, D338N | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Uncertain significance
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118454706
- GRCh38:
- Chr11:118583991
| ARCN1 | V124fs, V212fs | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Pathogenic
(Sep 6, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr11:118452217
- GRCh38:
- Chr11:118581502
| ARCN1 | S87* | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Pathogenic
(Sep 6, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr11:118452110-118452111
- GRCh38:
- Chr11:118581395-118581396
| ARCN1 | S53fs | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | Pathogenic
(Sep 6, 2022) | no assertion criteria provided |