| - GRCh37:
- Chr13:110839640
- GRCh38:
- Chr13:110187293
| COL4A1 | G525R | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Likely pathogenic
(May 30, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110845177
- GRCh38:
- Chr13:110192830
| COL4A1 | G489S | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110839483
- GRCh38:
- Chr13:110187136
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Likely pathogenic
(Feb 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110839622
- GRCh38:
- Chr13:110187275
| COL4A1 | G531R | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Likely pathogenic
(May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110819520
- GRCh38:
- Chr13:110167173
| COL4A1 | V1312I | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110835562-110835574
- GRCh38:
- Chr13:110183215-110183227
| COL4A1 | A650fs | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Pathogenic
(Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110818579-110818580
- GRCh38:
- Chr13:110166232-110166233
| COL4A1 | G1341fs | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Pathogenic
(Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110813629
- GRCh38:
- Chr13:110161282
| COL4A1 | N1517S | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Uncertain significance
(Mar 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110829384
- GRCh38:
- Chr13:110177037
| COL4A1 | G906A | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Likely pathogenic
(Sep 2, 2022) | criteria provided, single submitter |
| | COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Likely pathogenic
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110804684
- GRCh38:
- Chr13:110152337
| COL4A1 | F1642Y | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Uncertain significance
(Nov 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110859075
- GRCh38:
- Chr13:110206728
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity,
Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, not provided
| Likely benign
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110814590
- GRCh38:
- Chr13:110162243
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity,
Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, not provided
| Likely benign
(Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110822923
- GRCh38:
- Chr13:110170576
| COL4A1 | R1238H | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity,
Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, not provided
| Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110814569
- GRCh38:
- Chr13:110162222
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity,
Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, not provided
| Likely benign
(Nov 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110807669
- GRCh38:
- Chr13:110155322
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity,
Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, not provided
| Likely benign
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110822879-110822880
- GRCh38:
- Chr13:110170532-110170533
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Brain small vessel disease 1 with or without ocular anomalies,
Intracerebral hemorrhage, Retinal arterial tortuosity, not provided
| Likely benign
(Oct 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110864905
- GRCh38:
- Chr13:110212558
| COL4A1 | | not specified, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, Retinal arterial tortuosity,
not provided | Likely benign
(Oct 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110813619
- GRCh38:
- Chr13:110161272
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Brain small vessel disease 1 with or without ocular anomalies,
Intracerebral hemorrhage, Retinal arterial tortuosity, not provided
| Likely benign
(Aug 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110827556
- GRCh38:
- Chr13:110175209
| COL4A1 | | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, Retinal arterial tortuosity
| Likely benign
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110802801
- GRCh38:
- Chr13:110150454
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Intracerebral hemorrhage, Retinal arterial tortuosity, not provided
| Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110855958
- GRCh38:
- Chr13:110203611
| COL4A1 | | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies,
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Intracerebral hemorrhage, Retinal arterial tortuosity
| Benign/Likely benign
(Feb 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110830505
- GRCh38:
- Chr13:110178158
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Intracerebral hemorrhage, Retinal arterial tortuosity, not provided
| Likely benign
(Oct 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110845181
- GRCh38:
- Chr13:110192834
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Intracerebral hemorrhage, Retinal arterial tortuosity, not provided
| Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110804839
- GRCh38:
- Chr13:110152492
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Intracerebral hemorrhage, Retinal arterial tortuosity, not provided
| Likely benign
(Jul 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110864750
- GRCh38:
- Chr13:110212403
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Intracerebral hemorrhage, Retinal arterial tortuosity, not provided
| Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110830173
- GRCh38:
- Chr13:110177826
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Intracerebral hemorrhage, Retinal arterial tortuosity, not provided
| Likely benign
(Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110826260
- GRCh38:
- Chr13:110173913
| COL4A1 | | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Intracerebral hemorrhage,
Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
| Likely benign
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110847482-110847483
- GRCh38:
- Chr13:110195135-110195136
| COL4A1, LOC126861856 | | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Intracerebral hemorrhage,
Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
| Benign/Likely benign
(Aug 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110835592
- GRCh38:
- Chr13:110183245
| COL4A1 | | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Intracerebral hemorrhage,
Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
| Likely benign
(Aug 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110807657
- GRCh38:
- Chr13:110155310
| COL4A1 | | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Intracerebral hemorrhage,
Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
| Likely benign
(Jan 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110866266
- GRCh38:
- Chr13:110213919
| COL4A1 | | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies,
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity, Intracerebral hemorrhage
| Likely benign
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110839557
- GRCh38:
- Chr13:110187210
| COL4A1 | | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies,
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity, Intracerebral hemorrhage
| Likely benign
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110826989
- GRCh38:
- Chr13:110174642
| COL4A1 | | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies,
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity, Intracerebral hemorrhage
| Likely benign
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110864901
- GRCh38:
- Chr13:110212554
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Retinal arterial tortuosity, Intracerebral hemorrhage, not provided
| Likely benign
(Feb 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110853766
- GRCh38:
- Chr13:110201419
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Retinal arterial tortuosity, Intracerebral hemorrhage, not provided
| Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110815928
- GRCh38:
- Chr13:110163581
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Retinal arterial tortuosity, Intracerebral hemorrhage, not provided
| Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110827079
- GRCh38:
- Chr13:110174732
| COL4A1 | | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies,
Intracerebral hemorrhage, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity
| Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110823021
- GRCh38:
- Chr13:110170674
| COL4A1 | | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies,
Intracerebral hemorrhage, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity
| Likely benign
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110864976
- GRCh38:
- Chr13:110212629
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage,
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity, not provided
| Likely benign
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110813731
- GRCh38:
- Chr13:110161384
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage,
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity, not provided
| Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110815801
- GRCh38:
- Chr13:110163454
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage,
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity, not provided
| Likely benign
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110853765
- GRCh38:
- Chr13:110201418
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage,
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity, not provided
| Likely benign
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110822021
- GRCh38:
- Chr13:110169674
| COL4A1 | | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Intracerebral hemorrhage, Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies
| Likely benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110827021
- GRCh38:
- Chr13:110174674
| COL4A1 | M1092V | Brain small vessel disease 1 with or without ocular anomalies, Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Intracerebral hemorrhage, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, not provided
| Uncertain significance
(Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110862526
- GRCh38:
- Chr13:110210179
| COL4A1 | G168R | Brain small vessel disease 1 with or without ocular anomalies, Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Intracerebral hemorrhage, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, not provided
| Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110802715-110802717
- GRCh38:
- Chr13:110150368-110150370
| COL4A1 | R1668del | Brain small vessel disease 1 with or without ocular anomalies, Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Intracerebral hemorrhage, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, not provided
| Uncertain significance
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110857844
- GRCh38:
- Chr13:110205497
| COL4A1 | S300R | Brain small vessel disease 1 with or without ocular anomalies, Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Intracerebral hemorrhage, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, not provided
| Uncertain significance
(Dec 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110845188
- GRCh38:
- Chr13:110192841
| COL4A1 | P485L | Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,
Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, not provided
| Uncertain significance
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110804753
- GRCh38:
- Chr13:110152406
| COL4A1 | R1619H | Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,
Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, not provided
| Uncertain significance
(Jan 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110847386
- GRCh38:
- Chr13:110195039
| COL4A1, LOC126861856 | | not provided, Retinal arterial tortuosity, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,
Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
| Conflicting interpretations of pathogenicity
(Jul 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:110831718
- GRCh38:
- Chr13:110179371
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage,
Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, not provided
| Likely benign
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110831648
- GRCh38:
- Chr13:110179301
| COL4A1 | I772F | Retinal arterial tortuosity, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Intracerebral hemorrhage, Brain small vessel disease 1 with or without ocular anomalies, not provided
| Uncertain significance
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110847385
- GRCh38:
- Chr13:110195038
| COL4A1, LOC126861856 | E456K | Retinal arterial tortuosity, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Intracerebral hemorrhage, Brain small vessel disease 1 with or without ocular anomalies, not provided
| Uncertain significance
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110838782
- GRCh38:
- Chr13:110186435
| COL4A1 | D616G | Retinal arterial tortuosity, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Intracerebral hemorrhage, Brain small vessel disease 1 with or without ocular anomalies, not provided
| Uncertain significance
(Mar 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110827576
- GRCh38:
- Chr13:110175229
| COL4A1 | R1063* | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage,
Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, COL4A1-related condition,
not provided | Pathogenic/Likely pathogenic
(Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110817330
- GRCh38:
- Chr13:110164983
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage,
Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, not provided
| Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:110839541
- GRCh38:
- Chr13:110187194
| COL4A1 | A558T | not provided, Intracerebral hemorrhage, Retinal arterial tortuosity,
Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
| Uncertain significance
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110827619
- GRCh38:
- Chr13:110175272
| COL4A1 | E1048D | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies,
Intracerebral hemorrhage, Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
| Uncertain significance
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110864216
- GRCh38:
- Chr13:110211869
| COL4A1 | | not provided, Intracerebral hemorrhage, Retinal arterial tortuosity,
Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
| Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110833649
- GRCh38:
- Chr13:110181302
| COL4A1 | Q728R | not provided, Intracerebral hemorrhage, Retinal arterial tortuosity,
Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
| Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110838744
- GRCh38:
- Chr13:110186397
| COL4A1 | P629A | Intracerebral hemorrhage, Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies,
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, not provided
| Uncertain significance
(Apr 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110859008
- GRCh38:
- Chr13:110206661
| COL4A1 | | Intracerebral hemorrhage, Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies,
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, not provided
| Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110831746
- GRCh38:
- Chr13:110179399
| COL4A1 | P739L | not provided, Intracerebral hemorrhage, Retinal arterial tortuosity,
Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
| Uncertain significance
(Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110830200
- GRCh38:
- Chr13:110177853
| COL4A1 | P902L | Inborn genetic diseases, not provided, Intracerebral hemorrhage,
Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Uncertain significance
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110814574
- GRCh38:
- Chr13:110162227
| COL4A1 | | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, not provided
| Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110839601
- GRCh38:
- Chr13:110187254
| COL4A1 | R538W | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies,
Intracerebral hemorrhage, Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
not provided | Uncertain significance
(Jun 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110827602
- GRCh38:
- Chr13:110175255
| COL4A1 | P1054L | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, not provided
| Uncertain significance
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110814682
- GRCh38:
- Chr13:110162335
| COL4A1 | Q1453* | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Likely pathogenic
(Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110844595
- GRCh38:
- Chr13:110192248
| COL4A1 | G501D | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Pathogenic/Likely pathogenic
(Jan 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110827072
- GRCh38:
- Chr13:110174725
| COL4A1 | P1075S | Retinal arterial tortuosity, Intracerebral hemorrhage, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Brain small vessel disease 1 with or without ocular anomalies, not provided
| Uncertain significance
(Mar 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110831761
- GRCh38:
- Chr13:110179414
| COL4A1 | P734R | Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Intracerebral hemorrhage,
Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, not provided
| Uncertain significance
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110835355
- GRCh38:
- Chr13:110183008
| COL4A1 | P694S | Inborn genetic diseases, Retinal arterial tortuosity, Intracerebral hemorrhage,
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Brain small vessel disease 1 with or without ocular anomalies,
not provided | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:110802754
- GRCh38:
- Chr13:110150407
| COL4A1 | R1656C | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Brain small vessel disease 1 with or without ocular anomalies,
Intracerebral hemorrhage, Retinal arterial tortuosity, not provided
| Uncertain significance
(Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110827575
- GRCh38:
- Chr13:110175228
| COL4A1 | R1063Q | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Brain small vessel disease 1 with or without ocular anomalies,
Intracerebral hemorrhage, Retinal arterial tortuosity, not provided
| Uncertain significance
(Jan 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110804857-110804858
- GRCh38:
- Chr13:110152510-110152511
| COL4A1 | | Retinal arterial tortuosity, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, not provided
| Likely benign
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110862496
- GRCh38:
- Chr13:110210149
| COL4A1 | P178S | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Uncertain significance
(Jun 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:76789622
- GRCh38:
- Chr10:75029864
| KAT6B | Y1117*, Y1325*, Y1334*, Y1388*, Y1497*, Y1680*, Y899*, Y985* | Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,
Intracerebral hemorrhage, Retinal arterial tortuosity | Pathogenic
(Oct 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110814790
- GRCh38:
- Chr13:110162443
| COL4A1 | | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Intracerebral hemorrhage, Retinal arterial tortuosity
| Pathogenic/Likely pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110850996
- GRCh38:
- Chr13:110198649
| COL4A1 | | not provided, Retinal arterial tortuosity, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage
| Benign/Likely benign
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110817171
- GRCh38:
- Chr13:110164824
| COL4A1 | | Brain small vessel disease 1 with or without ocular anomalies, not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
| Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110838875
- GRCh38:
- Chr13:110186528
| COL4A1 | R585H | COL4A1-related condition, not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,
Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Intracerebral hemorrhage,
Retinal arterial tortuosity | Uncertain significance
(Sep 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110839511
- GRCh38:
- Chr13:110187164
| COL4A1 | G568C | Intracerebral hemorrhage, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies,
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity, COL4A1 or COL4A2-related cerebral small vessel disease
| Likely pathogenic
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110864227
- GRCh38:
- Chr13:110211880
| COL4A1 | A144T | not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Intracerebral hemorrhage,
Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Brain small vessel disease 1 with or without ocular anomalies
| Uncertain significance
(Mar 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110818603
- GRCh38:
- Chr13:110166256
| COL4A1 | D1333N | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity,
Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, not provided,
Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:110804764
- GRCh38:
- Chr13:110152417
| COL4A1 | | not provided, Intracerebral hemorrhage, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,
Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
| Likely benign
(Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110839496
- GRCh38:
- Chr13:110187149
| COL4A1 | K573Q | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Uncertain significance
(Jun 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110826793
- GRCh38:
- Chr13:110174446
| COL4A1 | G1136S | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Uncertain significance
(Apr 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110831685
- GRCh38:
- Chr13:110179338
| COL4A1 | S759R | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies,
Intracerebral hemorrhage, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Inborn genetic diseases,
not provided | Uncertain significance
(Dec 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110802753
- GRCh38:
- Chr13:110150406
| COL4A1 | R1656H | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies,
Intracerebral hemorrhage, Retinal arterial tortuosity, not provided
| Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110833688
- GRCh38:
- Chr13:110181341
| COL4A1 | R715H | not specified, Brain small vessel disease 1 with or without ocular anomalies, Retinal arterial tortuosity,
Intracerebral hemorrhage, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant,
not provided | Conflicting interpretations of pathogenicity
(Jun 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:110827695
- GRCh38:
- Chr13:110175348
| COL4A1 | G1023A | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Likely pathogenic
(May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110815908
- GRCh38:
- Chr13:110163561
| COL4A1 | G1384D | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Likely pathogenic
(Feb 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110827651
- GRCh38:
- Chr13:110175304
| COL4A1 | G1038S | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Pathogenic
(Feb 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110835584
- GRCh38:
- Chr13:110183237
| COL4A1 | G646fs | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Pathogenic
(Feb 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110838836
- GRCh38:
- Chr13:110186489
| COL4A1 | G598V | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Likely pathogenic
(Feb 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110862336
- GRCh38:
- Chr13:110209989
| COL4A1 | | Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,
Intracerebral hemorrhage, Retinal arterial tortuosity, not provided
| Likely benign
(Aug 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110845223
- GRCh38:
- Chr13:110192876
| COL4A1 | | Brain small vessel disease 1 with or without ocular anomalies, Intracerebral hemorrhage, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,
Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Retinal arterial tortuosity,
not provided, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Benign/Likely benign
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110835419
- GRCh38:
- Chr13:110183072
| COL4A1 | | Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110830264
- GRCh38:
- Chr13:110177917
| COL4A1 | M881V | Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |