| - GRCh37:
- ChrX:63412061-63412062
- GRCh38:
- ChrX:64192181-64192182
| AMER1 | G369fs | Osteopathia striata with cranial sclerosis | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:63409901
- GRCh38:
- ChrX:64190021
| AMER1 | R1089T | Osteopathia striata with cranial sclerosis | Uncertain significance
(Apr 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63412094
- GRCh38:
- ChrX:64192214
| AMER1 | R358Q | Osteopathia striata with cranial sclerosis | Uncertain significance
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63413117
- GRCh38:
- ChrX:64193237
| AMER1 | S17C | Osteopathia striata with cranial sclerosis | Uncertain significance
(Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63409881
- GRCh38:
- ChrX:64190001
| AMER1 | Q1096* | Osteopathia striata with cranial sclerosis | Uncertain significance
(Dec 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63412091
- GRCh38:
- ChrX:64192211
| AMER1 | S359T | Osteopathia striata with cranial sclerosis | Uncertain significance
(Aug 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63410157
- GRCh38:
- ChrX:64190277
| AMER1 | S1004P | Osteopathia striata with cranial sclerosis | Uncertain significance
(Mar 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63411707
- GRCh38:
- ChrX:64191827
| AMER1 | L487Q | Osteopathia striata with cranial sclerosis | Uncertain significance
(Jan 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63409798
- GRCh38:
- ChrX:64189918
| AMER1 | S1123R | Osteopathia striata with cranial sclerosis | Uncertain significance
(Nov 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63410292
- GRCh38:
- ChrX:64190412
| AMER1 | P959T | Osteopathia striata with cranial sclerosis | Uncertain significance
(Jul 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63410037
- GRCh38:
- ChrX:64190157
| AMER1 | M1044V | Osteopathia striata with cranial sclerosis, not provided | Uncertain significance
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:63412249
- GRCh38:
- ChrX:64192369
| AMER1 | | Osteopathia striata with cranial sclerosis, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:63412167
- GRCh38:
- ChrX:64192287
| AMER1 | E334* | Osteopathia striata with cranial sclerosis | Pathogenic
(Apr 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63412987-63412988
- GRCh38:
- ChrX:64193107-64193108
| AMER1 | F60fs | Osteopathia striata with cranial sclerosis | Pathogenic
(Sep 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63412996
- GRCh38:
- ChrX:64193116
| AMER1 | M57I | Osteopathia striata with cranial sclerosis | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63413096
- GRCh38:
- ChrX:64193216
| AMER1 | T24I | Osteopathia striata with cranial sclerosis | Uncertain significance
(Aug 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63409839
- GRCh38:
- ChrX:64189959
| AMER1 | S1110T | Osteopathia striata with cranial sclerosis | Uncertain significance
(Aug 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63410804
- GRCh38:
- ChrX:64190924
| AMER1 | C788Y | Osteopathia striata with cranial sclerosis | Uncertain significance
(Sep 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63411862
- GRCh38:
- ChrX:64191982
| AMER1 | | Osteopathia striata with cranial sclerosis | Uncertain significance
(Jan 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63425070-63426641
- GRCh38:
- ChrX:64205190-64206761
| AMER1 | | Osteopathia striata with cranial sclerosis | Pathogenic
(Jan 31, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63423844-63425768
- GRCh38:
- ChrX:64203964-64205888
| AMER1 | | Osteopathia striata with cranial sclerosis | Pathogenic
(Jan 31, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63412611-63412612
- GRCh38:
- ChrX:64192731-64192732
| AMER1 | | Osteopathia striata with cranial sclerosis | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:62855818-63499638
| MTMR8, ARHGEF9, AMER1, ASB12 | | Osteopathia striata with cranial sclerosis | Pathogenic | criteria provided, single submitter |
| | AMER1 | | Osteopathia striata with cranial sclerosis | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:63411119
- GRCh38:
- ChrX:64191239
| AMER1 | S683* | Osteopathia striata with cranial sclerosis | Uncertain significance
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63411678
- GRCh38:
- ChrX:64191798
| AMER1 | R497* | not provided, Osteopathia striata with cranial sclerosis | Pathogenic/Likely pathogenic
(May 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:63411783
- GRCh38:
- ChrX:64191903
| AMER1 | E462fs | Osteopathia striata with cranial sclerosis | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:63412425
- GRCh38:
- ChrX:64192545
| AMER1 | P248T | Osteopathia striata with cranial sclerosis, not provided, Inborn genetic diseases
| Benign/Likely benign
(Mar 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:63412766
- GRCh38:
- ChrX:64192886
| AMER1 | H134P | Osteopathia striata with cranial sclerosis, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:63411138
- GRCh38:
- ChrX:64191258
| AMER1 | S677P | Inborn genetic diseases, not provided, Osteopathia striata with cranial sclerosis
| Conflicting interpretations of pathogenicity
(Aug 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:63409759
- GRCh38:
- ChrX:64189879
| AMER1 | | Osteopathia striata with cranial sclerosis, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:63412602
- GRCh38:
- ChrX:64192722
| AMER1 | Q189* | Osteopathia striata with cranial sclerosis | Pathogenic
(Feb 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:63412512
- GRCh38:
- ChrX:64192632
| AMER1 | E219fs | Osteopathia striata with cranial sclerosis | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:63413082
- GRCh38:
- ChrX:64193202
| AMER1 | A29T | not provided, Osteopathia striata with cranial sclerosis | Conflicting interpretations of pathogenicity
(Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:63411371
- GRCh38:
- ChrX:64191491
| AMER1 | Y599C | not provided, Osteopathia striata with cranial sclerosis | Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:63412356
- GRCh38:
- ChrX:64192476
| AMER1 | Q271* | Osteopathia striata with cranial sclerosis | Pathogenic
(Jan 1, 2010) | no assertion criteria provided |
| - GRCh37:
- ChrX:63411900
- GRCh38:
- ChrX:64192020
| AMER1 | L423fs | Osteopathia striata with cranial sclerosis | Pathogenic
(Jan 1, 2010) | no assertion criteria provided |
| - GRCh37:
- ChrX:63412738
- GRCh38:
- ChrX:64192858
| AMER1 | C143* | Osteopathia striata with cranial sclerosis | Pathogenic
(Oct 1, 2011) | no assertion criteria provided |
| - GRCh37:
- ChrX:63412095
- GRCh38:
- ChrX:64192215
| AMER1 | R358* | Inborn genetic diseases, not provided | Pathogenic
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:63412110
- GRCh38:
- ChrX:64192230
| AMER1 | R353* | not provided, Osteopathia striata with cranial sclerosis | Pathogenic
(Jul 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh38:
- ChrX:57537466-65512709
| AMER1, LOC121853058, ARHGEF9, ARHGEF9-IT1, ASB12, LAS1L, LINC01278, LOC113875034, LOC121627974, LOC128031833, MIR1468, MTMR8, NLRP2B, SPIN4, SPIN4-AS1, ZC3H12B, ZC4H2, ZXDA, ZXDB | | Osteopathia striata with cranial sclerosis | Pathogenic
(Jan 1, 2010) | no assertion criteria provided |
| - GRCh37:
- ChrX:63412386-63412387
- GRCh38:
- ChrX:64192506-64192507
| AMER1 | P261fs | Osteopathia striata with cranial sclerosis | Pathogenic
(Jan 1, 2009) | no assertion criteria provided |
| - GRCh37:
- ChrX:63412496
- GRCh38:
- ChrX:64192616
| AMER1 | P224fs | Osteopathia striata with cranial sclerosis | Pathogenic
(Jan 1, 2009) | no assertion criteria provided |