| - GRCh37:
- Chr6:121768853
- GRCh38:
- Chr6:121447707
| GJA1 | K287R | Oculodentodigital dysplasia, Oculodentodigital dysplasia, autosomal recessive | Uncertain significance
(Aug 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768427-121768432
- GRCh38:
- Chr6:121447281-121447286
| GJA1 | | Oculodentodigital dysplasia | Likely pathogenic
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121768409
- GRCh38:
- Chr6:121447263
| GJA1 | I139N | Oculodentodigital dysplasia | Likely pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769032
- GRCh38:
- Chr6:121447886
| GJA1 | L347I | Inborn genetic diseases, Autosomal dominant palmoplantar keratoderma and congenital alopecia, Atrioventricular septal defect 3,
Oculodentodigital dysplasia, autosomal recessive, Syndactyly type 3, Oculodentodigital dysplasia,
Craniometaphyseal dysplasia, autosomal recessive, Hypoplastic left heart syndrome 1, Erythrokeratodermia variabilis et progressiva 3,
not provided, Oculodentodigital dysplasia, autosomal recessive ...see more | Uncertain significance
(Feb 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768595
- GRCh38:
- Chr6:121447449
| GJA1 | S201Y | Oculodentodigital dysplasia | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr6:121768925
- GRCh38:
- Chr6:121447779
| GJA1 | A311fs | Autosomal dominant palmoplantar keratoderma and congenital alopecia, Atrioventricular septal defect 3, Oculodentodigital dysplasia, autosomal recessive,
Hypoplastic left heart syndrome 1, Craniometaphyseal dysplasia, autosomal recessive, Syndactyly type 3,
Oculodentodigital dysplasia, Erythrokeratodermia variabilis et progressiva 3 | Uncertain significance
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121768135
- GRCh38:
- Chr6:121446989
| GJA1 | E48K | Oculodentodigital dysplasia, Oculodentodigital dysplasia, autosomal recessive | Pathogenic/Likely pathogenic
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121769104
- GRCh38:
- Chr6:121447958
| GJA1 | A371T | Oculodentodigital dysplasia | Uncertain significance
(Jul 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121768086
- GRCh38:
- Chr6:121446940
| GJA1 | I31M | Oculodentodigital dysplasia | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769663
- GRCh38:
- Chr6:121448517
| GJA1 | | Oculodentodigital dysplasia, Syndactyly type 3, Hypoplastic left heart syndrome 1
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121768757
- GRCh38:
- Chr6:121447611
| GJA1 | S255N | Syndactyly type 3, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia,
Oculodentodigital dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121768710
- GRCh38:
- Chr6:121447564
| GJA1 | | Syndactyly type 3, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia,
not provided, Oculodentodigital dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity
(Jun 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121770134
- GRCh38:
- Chr6:121448988
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121770068
- GRCh38:
- Chr6:121448922
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769640
- GRCh38:
- Chr6:121448494
| GJA1 | | Syndactyly type 3, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121769586
- GRCh38:
- Chr6:121448440
| GJA1 | | Syndactyly type 3, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121768705
- GRCh38:
- Chr6:121447559
| GJA1 | D238Y | Syndactyly type 3, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121756908
- GRCh38:
- Chr6:121435762
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121770476
- GRCh38:
- Chr6:121449330
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121770394
- GRCh38:
- Chr6:121449248
| GJA1 | | Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia, Syndactyly type 3
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121770030
- GRCh38:
- Chr6:121448884
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769974
- GRCh38:
- Chr6:121448828
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769443
- GRCh38:
- Chr6:121448297
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121768886
- GRCh38:
- Chr6:121447740
| GJA1 | C298Y | not provided, Hypoplastic left heart syndrome 1, Syndactyly type 3,
Oculodentodigital dysplasia | Uncertain significance
(Mar 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768699
- GRCh38:
- Chr6:121447553
| GJA1 | V236I | not provided, Oculodentodigital dysplasia, autosomal recessive, Hypoplastic left heart syndrome 1,
Syndactyly type 3, Oculodentodigital dysplasia | Conflicting interpretations of pathogenicity
(Sep 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121768476
- GRCh38:
- Chr6:121447330
| GJA1 | F161L | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121756798
- GRCh38:
- Chr6:121435652
| GJA1 | | Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia, Syndactyly type 3
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121770346
- GRCh38:
- Chr6:121449200
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121770285
- GRCh38:
- Chr6:121449139
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769892
- GRCh38:
- Chr6:121448746
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769354
- GRCh38:
- Chr6:121448208
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121768879
- GRCh38:
- Chr6:121447733
| GJA1 | S296P | Syndactyly type 3, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
| Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121768122
- GRCh38:
- Chr6:121446976
| GJA1 | | Syndactyly type 3, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
| Uncertain significance
(Feb 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121768555
- GRCh38:
- Chr6:121447409
| GJA1 | R189fs | Oculodentodigital dysplasia, Oculodentodigital dysplasia, autosomal recessive | Uncertain significance
(Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768605
- GRCh38:
- Chr6:121447459
| GJA1 | | Oculodentodigital dysplasia, Syndactyly type 3, Hypoplastic left heart syndrome 1,
Oculodentodigital dysplasia, autosomal recessive | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768807
- GRCh38:
- Chr6:121447661
| GJA1 | S272P | Oculodentodigital dysplasia, Syndactyly type 3, Hypoplastic left heart syndrome 1,
Oculodentodigital dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity
(May 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121768109-121768120
- GRCh38:
- Chr6:121446963-121446974
| GJA1 | | Oculodentodigital dysplasia, autosomal recessive | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121768406
- GRCh38:
- Chr6:121447260
| GJA1 | G138D | Oculodentodigital dysplasia, Oculodentodigital dysplasia, autosomal recessive | Pathogenic/Likely pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768639
- GRCh38:
- Chr6:121447493
| GJA1 | V216L | Oculodentodigital dysplasia | Pathogenic
(Apr 21, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121768436
- GRCh38:
- Chr6:121447290
| GJA1 | R148Q | not provided, Oculodentodigital dysplasia | Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121768112
- GRCh38:
- Chr6:121446966
| GJA1 | A40V | Autosomal dominant palmoplantar keratoderma and congenital alopecia, Erythrokeratodermia variabilis et progressiva 3, Oculodentodigital dysplasia,
Craniometaphyseal dysplasia, autosomal recessive, Hypoplastic left heart syndrome 1, Atrioventricular septal defect 3,
Oculodentodigital dysplasia, autosomal recessive, Syndactyly type 3, not provided,
Oculodentodigital dysplasia, Oculodentodigital dysplasia, autosomal recessive ...see more | Pathogenic
(May 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768598
- GRCh38:
- Chr6:121447452
| GJA1 | R202H | Oculodentodigital dysplasia, autosomal recessive, not provided, Oculodentodigital dysplasia
| Conflicting interpretations of pathogenicity
(Apr 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121770875
- GRCh38:
- Chr6:121449729
| GJA1 | | Syndactyly, Oculodentodigital dysplasia, Hypoplastic left heart syndrome 1
| Benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121770464
- GRCh38:
- Chr6:121449318
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121770243
- GRCh38:
- Chr6:121449097
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121770219
- GRCh38:
- Chr6:121449073
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121770185
- GRCh38:
- Chr6:121449039
| GJA1 | | Syndactyly type 3, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121770155-121770158
- GRCh38:
- Chr6:121449009-121449012
| GJA1 | | Oculodentodigital dysplasia, Syndactyly, Hypoplastic left heart syndrome 1
| Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121770155-121770156
- GRCh38:
- Chr6:121449009-121449010
| GJA1 | | Syndactyly, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
| Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121770110
- GRCh38:
- Chr6:121448964
| GJA1 | | Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia, Syndactyly type 3
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121770058-121770060
- GRCh38:
- Chr6:121448912-121448914
| GJA1 | | Syndactyly, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
| Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769906
- GRCh38:
- Chr6:121448760
| GJA1 | | Syndactyly, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
| Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769905-121769906
- GRCh38:
- Chr6:121448759-121448760
| GJA1 | | Syndactyly, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
| Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769905-121769906
- GRCh38:
- Chr6:121448759-121448760
| GJA1 | | Syndactyly, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
| Benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769836
- GRCh38:
- Chr6:121448690
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769777
- GRCh38:
- Chr6:121448631
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769680
- GRCh38:
- Chr6:121448534
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769671
- GRCh38:
- Chr6:121448525
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769427
- GRCh38:
- Chr6:121448281
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769385
- GRCh38:
- Chr6:121448239
| GJA1 | | not provided, Hypoplastic left heart syndrome 1, Syndactyly type 3,
Oculodentodigital dysplasia | Conflicting interpretations of pathogenicity
(Jul 31, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121769356
- GRCh38:
- Chr6:121448210
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769333
- GRCh38:
- Chr6:121448187
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769315
- GRCh38:
- Chr6:121448169
| GJA1 | | not provided, Hypoplastic left heart syndrome 1, Syndactyly type 3,
Oculodentodigital dysplasia | Benign
(Jul 5, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121769305
- GRCh38:
- Chr6:121448159
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769261
- GRCh38:
- Chr6:121448115
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121769189
- GRCh38:
- Chr6:121448043
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769121
- GRCh38:
- Chr6:121447975
| GJA1 | | not provided, Oculodentodigital dysplasia, autosomal recessive, Hypoplastic left heart syndrome 1,
Syndactyly type 3, Oculodentodigital dysplasia | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121769008
- GRCh38:
- Chr6:121447862
| GJA1 | D339N | Oculodentodigital dysplasia, autosomal recessive, Hypoplastic left heart syndrome 1, Syndactyly type 3,
Oculodentodigital dysplasia | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768830
- GRCh38:
- Chr6:121447684
| GJA1 | | not provided, Oculodentodigital dysplasia, autosomal recessive, Hypoplastic left heart syndrome 1,
Syndactyly type 3, Oculodentodigital dysplasia | Benign/Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768449
- GRCh38:
- Chr6:121447303
| GJA1 | | not provided, Oculodentodigital dysplasia, autosomal recessive, Hypoplastic left heart syndrome 1,
Syndactyly type 3, Oculodentodigital dysplasia | Conflicting interpretations of pathogenicity
(Jul 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121768263
- GRCh38:
- Chr6:121447117
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121767966
- GRCh38:
- Chr6:121446820
| GJA1 | | not provided, Hypoplastic left heart syndrome 1, Syndactyly type 3,
Oculodentodigital dysplasia | Conflicting interpretations of pathogenicity
(Oct 28, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121756928
- GRCh38:
- Chr6:121435782
| GJA1 | | not provided, Hypoplastic left heart syndrome 1, Syndactyly type 3,
Oculodentodigital dysplasia | Conflicting interpretations of pathogenicity
(Feb 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121756860
- GRCh38:
- Chr6:121435714
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121756834
- GRCh38:
- Chr6:121435688
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121756807
- GRCh38:
- Chr6:121435661
| GJA1 | | Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121769144-121769145
- GRCh38:
- Chr6:121447998-121447999
| GJA1 | | Syndactyly, not provided, Oculodentodigital dysplasia,
Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia, autosomal recessive, not specified
| Benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768751
- GRCh38:
- Chr6:121447605
| GJA1 | A253V | not specified, not provided, Oculodentodigital dysplasia,
Oculodentodigital dysplasia, autosomal recessive | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768710
- GRCh38:
- Chr6:121447564
| GJA1 | | not specified, Oculodentodigital dysplasia, autosomal recessive, Oculodentodigital dysplasia,
Syndactyly type 3, Hypoplastic left heart syndrome 1 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768610
- GRCh38:
- Chr6:121447464
| GJA1 | K206R | Oculodentodigital dysplasia | Pathogenic
(Oct 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:121768024
- GRCh38:
- Chr6:121446878
| GJA1 | L11F | Oculodentodigital dysplasia | Pathogenic
(Jun 1, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:121768219
- GRCh38:
- Chr6:121447073
| GJA1 | R76S | not provided, Oculodentodigital dysplasia, Oculodentodigital dysplasia, autosomal recessive
| Conflicting interpretations of pathogenicity
(Jun 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121768681-121768682
- GRCh38:
- Chr6:121447535-121447536
| GJA1 | Y230fs | Oculodentodigital dysplasia | Pathogenic
(Feb 15, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr6:121768025
- GRCh38:
- Chr6:121446879
| GJA1 | L11P | Oculodentodigital dysplasia | Pathogenic
(May 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr6:121768574
- GRCh38:
- Chr6:121447428
| GJA1 | H194P | Oculodentodigital dysplasia | Pathogenic
(Feb 15, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr6:121769120
- GRCh38:
- Chr6:121447974
| GJA1 | R376Q | not provided, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia, autosomal recessive,
Oculodentodigital dysplasia, Syndactyly type 3 | Conflicting interpretations of pathogenicity
(Mar 2, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121768771-121768772
- GRCh38:
- Chr6:121447625-121447626
| GJA1 | C260fs | Oculodentodigital dysplasia | Pathogenic
(Jan 15, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr6:121768279
- GRCh38:
- Chr6:121447133
| GJA1 | V96M | Oculodentodigital dysplasia | Pathogenic
(Jun 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr6:121768146-121768147
- GRCh38:
- Chr6:121447000-121447001
| GJA1 | | Oculodentodigital dysplasia | Pathogenic
(Feb 1, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr6:121768058
- GRCh38:
- Chr6:121446912
| GJA1 | G22E | Oculodentodigital dysplasia, autosomal recessive | Pathogenic
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121768054
- GRCh38:
- Chr6:121446908
| GJA1 | G21R | Oculodentodigital dysplasia | Pathogenic
(Feb 1, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr6:121768045
- GRCh38:
- Chr6:121446899
| GJA1 | S18P | Oculodentodigital dysplasia | Pathogenic
(Feb 1, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr6:121768043
- GRCh38:
- Chr6:121446897
| GJA1 | Y17S | Oculodentodigital dysplasia | Pathogenic
(Feb 1, 2003) | no assertion criteria provided |