| - GRCh37:
- Chr12:124241395
- GRCh38:
- Chr12:123756848
| ATP6V0A2 | R776H | ALG9 congenital disorder of glycosylation, not provided, Wrinkly skin syndrome,
Cutis laxa with osteodystrophy | Uncertain significance
(Mar 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124197140
- GRCh38:
- Chr12:123712593
| ATP6V0A2, LOC130009117 | M10V | ALG9 congenital disorder of glycosylation, Wrinkly skin syndrome, Cutis laxa with osteodystrophy,
Inborn genetic diseases | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124221663
- GRCh38:
- Chr12:123737116
| ATP6V0A2 | V295I | ALG9 congenital disorder of glycosylation, not provided, Wrinkly skin syndrome,
Cutis laxa with osteodystrophy, Inborn genetic diseases | Uncertain significance
(Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124209328
- GRCh38:
- Chr12:123724781
| ATP6V0A2 | R141H | ALG9 congenital disorder of glycosylation, not provided, Cutis laxa with osteodystrophy,
Wrinkly skin syndrome | Uncertain significance
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124218359
- GRCh38:
- Chr12:123733812
| ATP6V0A2 | | not provided, Cutis laxa with osteodystrophy, Wrinkly skin syndrome
| Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124212347
- GRCh38:
- Chr12:123727800
| ATP6V0A2 | I180T | ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy, Wrinkly skin syndrome,
not provided, Inborn genetic diseases | Uncertain significance
(Dec 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124207098
- GRCh38:
- Chr12:123722551
| ATP6V0A2 | | not provided, Cutis laxa with osteodystrophy, Wrinkly skin syndrome
| Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124239014
- GRCh38:
- Chr12:123754467
| ATP6V0A2 | E741D | Wrinkly skin syndrome | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:124232214
- GRCh38:
- Chr12:123747667
| ATP6V0A2 | V556M | Cutis laxa with osteodystrophy, Wrinkly skin syndrome, not provided
| Uncertain significance
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124236890
- GRCh38:
- Chr12:123752343
| ATP6V0A2 | D706N | ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy, Cutis laxa with osteodystrophy,
Wrinkly skin syndrome, not provided | Uncertain significance
(May 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124229128
- GRCh38:
- Chr12:123744581
| ATP6V0A2 | | ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy, Wrinkly skin syndrome,
not specified | Benign/Likely benign
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124221798
- GRCh38:
- Chr12:123737251
| ATP6V0A2 | R340W | not provided, Cutis laxa with osteodystrophy, Wrinkly skin syndrome,
ALG9 congenital disorder of glycosylation | Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124209328
- GRCh38:
- Chr12:123724781
| ATP6V0A2 | R141L | not specified, not provided, Cutis laxa with osteodystrophy,
ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy, Wrinkly skin syndrome
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:124241401
- GRCh38:
- Chr12:123756854
| ATP6V0A2 | G778V | Wrinkly skin syndrome, Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation,
Cutis laxa with osteodystrophy, not provided | Uncertain significance
(Apr 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124236846
- GRCh38:
- Chr12:123752299
| ATP6V0A2 | I691T | Wrinkly skin syndrome, Cutis laxa with osteodystrophy, not provided,
ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy | Uncertain significance
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124229479
- GRCh38:
- Chr12:123744932
| ATP6V0A2 | P522L | Wrinkly skin syndrome, Cutis laxa with osteodystrophy, not provided,
ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy | Uncertain significance
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124212422
- GRCh38:
- Chr12:123727875
| ATP6V0A2 | A205V | Wrinkly skin syndrome, Cutis laxa with osteodystrophy, not specified,
not provided, ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy
| Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:124209215
- GRCh38:
- Chr12:123724668
| ATP6V0A2 | K103N | not specified, Cutis laxa with osteodystrophy, Wrinkly skin syndrome,
not provided, ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy
| Uncertain significance
(Jun 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124220055
- GRCh38:
- Chr12:123735508
| ATP6V0A2 | | Cutis laxa with osteodystrophy, Wrinkly skin syndrome, not specified,
not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124210782
- GRCh38:
- Chr12:123726235
| ATP6V0A2 | | not specified, Cutis laxa with osteodystrophy, Wrinkly skin syndrome,
ALG9 congenital disorder of glycosylation | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124209352
- GRCh38:
- Chr12:123724805
| ATP6V0A2 | | not specified, ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy,
Wrinkly skin syndrome | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124209332
- GRCh38:
- Chr12:123724785
| ATP6V0A2 | | not specified, Cutis laxa with osteodystrophy, Wrinkly skin syndrome,
ALG9 congenital disorder of glycosylation | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124229429
- GRCh38:
- Chr12:123744882
| ATP6V0A2 | | not specified, Cutis laxa with osteodystrophy, Wrinkly skin syndrome,
ALG9 congenital disorder of glycosylation | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124229332
- GRCh38:
- Chr12:123744785
| ATP6V0A2 | | not provided, Cutis laxa with osteodystrophy, Wrinkly skin syndrome
| Pathogenic/Likely pathogenic
(Aug 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:124206996
- GRCh38:
- Chr12:123722449
| ATP6V0A2 | | Cutis laxa with osteodystrophy, Wrinkly skin syndrome | Pathogenic
(Dec 30, 2017) | no assertion criteria provided |