| - GRCh37:
- Chr13:110830261
- GRCh38:
- Chr13:110177914
| COL4A1 | G882C | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Jun 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110835444
- GRCh38:
- Chr13:110183097
| COL4A1 | G664E | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Jun 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110820667-110825013
- GRCh38:
- Chr13:110168320-110172666
| COL4A1 | | Brain small vessel disease 1 with or without ocular anomalies | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr13:110825063
- GRCh38:
- Chr13:110172716
| COL4A1 | | Brain small vessel disease 1 with or without ocular anomalies | Uncertain significance
(Feb 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110830552
- GRCh38:
- Chr13:110178205
| COL4A1 | G829C | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Apr 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110823029
- GRCh38:
- Chr13:110170682
| COL4A1 | P1203S | Brain small vessel disease 1 with or without ocular anomalies | Uncertain significance
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110813716
- GRCh38:
- Chr13:110161369
| COL4A1 | G1488V | Brain small vessel disease 1 with or without ocular anomalies | Uncertain significance
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110866338
- GRCh38:
- Chr13:110213991
| COL4A1 | Q57* | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110839543
- GRCh38:
- Chr13:110187196
| COL4A1 | R557T | Brain small vessel disease 1 with or without ocular anomalies | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr13:110818650
- GRCh38:
- Chr13:110166303
| COL4A1 | G1317V | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Jan 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110866361
- GRCh38:
- Chr13:110214014
| COL4A1 | G49D | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110819532
- GRCh38:
- Chr13:110167185
| COL4A1 | G1308R | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110830565
- GRCh38:
- Chr13:110178218
| COL4A1 | I824M | Brain small vessel disease 1 with or without ocular anomalies | Uncertain significance
(Nov 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110814606
- GRCh38:
- Chr13:110162259
| COL4A1 | G1478D | Brain small vessel disease 1 with or without ocular anomalies | Uncertain significance
(Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110833689
- GRCh38:
- Chr13:110181342
| COL4A1 | R715C | Brain small vessel disease 1 with or without ocular anomalies | Uncertain significance
(Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110864787
- GRCh38:
- Chr13:110212440
| COL4A1 | I122L | Brain small vessel disease 1 with or without ocular anomalies | Uncertain significance
(Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110830197
- GRCh38:
- Chr13:110177850
| COL4A1 | G903D | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110861224
- GRCh38:
- Chr13:110208877
| COL4A1 | L222* | Brain small vessel disease 1 with or without ocular anomalies, not provided | Pathogenic
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110833677-110833678
- GRCh38:
- Chr13:110181330-110181331
| COL4A1 | N719fs | Brain small vessel disease 1 with or without ocular anomalies | Pathogenic
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110807725
- GRCh38:
- Chr13:110155378
| COL4A1 | P1554T | Brain small vessel disease 1 with or without ocular anomalies | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110838792
- GRCh38:
- Chr13:110186445
| COL4A1 | P613A | Brain small vessel disease 1 with or without ocular anomalies | Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110814791
- GRCh38:
- Chr13:110162444
| COL4A1 | | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110830510
- GRCh38:
- Chr13:110178163
| COL4A1 | G843R | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110829053
- GRCh38:
- Chr13:110176706
| COL4A1 | G963D | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110826997
- GRCh38:
- Chr13:110174650
| COL4A1 | G1100W | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110826347
- GRCh38:
- Chr13:110174000
| COL4A1 | | Brain small vessel disease 1 with or without ocular anomalies | Pathogenic
(Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110831681
- GRCh38:
- Chr13:110179334
| COL4A1 | G761R | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Nov 16, 2021) | no assertion criteria provided |
| - 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 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 9, 2022) | 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 | | Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Brain small vessel disease 1 with or without ocular anomalies,
Intracerebral hemorrhage, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, not provided
| Likely benign
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110829232
- GRCh38:
- Chr13:110176885
| COL4A1 | G957R | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110831269
- GRCh38:
- Chr13:110178922
| COL4A1 | | Brain small vessel disease 1 with or without ocular anomalies | Pathogenic
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110817338
- GRCh38:
- Chr13:110164991
| COL4A1 | | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - 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, 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
| Conflicting interpretations of pathogenicity
(Jul 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:110831718
- GRCh38:
- Chr13:110179371
| 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
(Sep 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110828976-110828977
- GRCh38:
- Chr13:110176629-110176630
| COL4A1 | | Brain small vessel disease 1 with or without ocular anomalies, not provided | Uncertain significance
(Feb 23, 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* | 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
| Pathogenic/Likely pathogenic
(Mar 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110817330
- GRCh38:
- Chr13:110164983
| 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
| Conflicting interpretations of pathogenicity
(Sep 6, 2022) | 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, Intracerebral hemorrhage, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,
Brain small vessel disease 1 with or without ocular anomalies, 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, 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
(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:
- Chr13:110830492
- GRCh38:
- Chr13:110178145
| COL4A1 | G849R | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Jan 20, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr13:110851964
- GRCh38:
- Chr13:110199617
| COL4A1 | | Brain small vessel disease 1 with or without ocular anomalies | Uncertain significance
(Jun 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110828852
- GRCh38:
- Chr13:110176505
| COL4A1 | G993S | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(May 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110831672
- GRCh38:
- Chr13:110179325
| COL4A1 | G764S | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Jul 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110835399
- GRCh38:
- Chr13:110183052
| COL4A1 | G679V | Brain small vessel disease 1 with or without ocular anomalies | Uncertain significance
(Dec 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:110829313
- GRCh38:
- Chr13:110176966
| COL4A1 | G930S | not provided, Brain small vessel disease 1 with or without ocular anomalies | Pathogenic/Likely pathogenic
(Jul 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110829017
- GRCh38:
- Chr13:110176670
| COL4A1 | G975E | Brain small vessel disease 1 with or without ocular anomalies | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - 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:
- Chr13:110813633
- GRCh38:
- Chr13:110161286
| COL4A1 | R1516* | See cases, Brain small vessel disease 1 with or without ocular anomalies | Pathogenic/Likely pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:110831761
- GRCh38:
- Chr13:110179414
| COL4A1 | P734R | 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
(Jan 7, 2022) | 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:
- Chr13:110831625
- GRCh38:
- Chr13:110179278
| COL4A1 | I780fs | Brain small vessel disease 1 with or without ocular anomalies | Likely pathogenic
(Aug 27, 2019) | criteria provided, single submitter |