| - GRCh37:
- Chr1:46655625
- GRCh38:
- Chr1:46189953
| POMGNT1, TSPAN1 | C419*, C540*, C562* | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O
| Likely pathogenic
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662424
- GRCh38:
- Chr1:46196752
| POMGNT1 | Y111*, Y89* | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46663400
- GRCh38:
- Chr1:46197728
| POMGNT1 | Q32fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46661559
- GRCh38:
- Chr1:46195887
| POMGNT1, TSPAN1 | S10*, S131*, S153* | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662450
- GRCh38:
- Chr1:46196778
| POMGNT1 | V103fs, V81fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Apr 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46660244
- GRCh38:
- Chr1:46194572
| POMGNT1, TSPAN1 | P102fs, P223fs, P245fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Mar 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662651
- GRCh38:
- Chr1:46196979
| POMGNT1 | Q54*, Q76* | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Mar 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46660295-46660297
- GRCh38:
- Chr1:46194623-46194625
| TSPAN1, POMGNT1 | K205fs, K227fs, K84fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46656439
- GRCh38:
- Chr1:46190767
| POMGNT1, TSPAN1 | K376fs, K497fs, K519fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46658088-46658089
- GRCh38:
- Chr1:46192416-46192417
| POMGNT1, TSPAN1 | E292fs, E413fs, E435fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46663387-46663388
- GRCh38:
- Chr1:46197715-46197716
| POMGNT1 | R36fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46659254-46659255
- GRCh38:
- Chr1:46193582-46193583
| POMGNT1, TSPAN1 | I194fs, I315fs, I337fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Dec 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46658881
- GRCh38:
- Chr1:46193209
| POMGNT1, TSPAN1 | K230*, K351*, K373* | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662740
- GRCh38:
- Chr1:46197068
| POMGNT1 | F24fs, F46fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46660274
- GRCh38:
- Chr1:46194602
| TSPAN1, POMGNT1 | W212*, W234*, W91* | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46657862-46657864
- GRCh38:
- Chr1:46192190-46192192
| POMGNT1, TSPAN1 | P339fs, P460fs, P482fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46660587-46660588
- GRCh38:
- Chr1:46194915-46194916
| TSPAN1, POMGNT1 | R172fs, R194fs, R51fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662668-46662669
- GRCh38:
- Chr1:46196996-46196997
| POMGNT1 | E48fs, E70fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46656146
- GRCh38:
- Chr1:46190474
| POMGNT1, TSPAN1 | S407G, S528G, S550G | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Uncertain significance
(Aug 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662640
- GRCh38:
- Chr1:46196968
| POMGNT1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
| Likely pathogenic
(Aug 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46662494-46662495
- GRCh38:
- Chr1:46196822-46196823
| POMGNT1 | P66fs, P88fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic
(Feb 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662441
- GRCh38:
- Chr1:46196769
| POMGNT1 | S106R, S84R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:46658107
- GRCh38:
- Chr1:46192435
| TSPAN1, POMGNT1 | G286V, G407V, G429V | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:46660511
- GRCh38:
- Chr1:46194839
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Retinitis pigmentosa 76
| Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46662689
- GRCh38:
- Chr1:46197017
| POMGNT1 | R41P, R63P | not specified, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Retinitis pigmentosa 76, Autosomal recessive limb-girdle muscular dystrophy type 2O | Uncertain significance
(Jul 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46658881
- GRCh38:
- Chr1:46193209
| POMGNT1, TSPAN1 | K230Q, K351Q, K373Q | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Retinitis pigmentosa 76 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662651
- GRCh38:
- Chr1:46196979
| POMGNT1 | Q54K, Q76K | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O, Retinitis pigmentosa 76,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46654485
- GRCh38:
- Chr1:46188813
| POMGNT1, TSPAN1 | A718V | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Retinitis pigmentosa 76 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46660026
- GRCh38:
- Chr1:46194354
| POMGNT1, TSPAN1 | R124C, R245C, R267C | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Retinitis pigmentosa 76 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46655630
- GRCh38:
- Chr1:46189958
| POMGNT1, TSPAN1 | P418S, P539S, P561S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Retinitis pigmentosa 76 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46659575
- GRCh38:
- Chr1:46193903
| POMGNT1, TSPAN1 | N158S, N279S, N301S | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O, Retinitis pigmentosa 76
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46660032
- GRCh38:
- Chr1:46194360
| POMGNT1, TSPAN1 | R122C, R243C, R265C | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O, Retinitis pigmentosa 76
| Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46660254
- GRCh38:
- Chr1:46194582
| POMGNT1, TSPAN1 | K219R, K241R, K98R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Retinitis pigmentosa 76 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46660273
- GRCh38:
- Chr1:46194601
| POMGNT1, TSPAN1 | G213R, G235R, G92R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Uncertain significance
(Sep 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46655199
- GRCh38:
- Chr1:46189527
| POMGNT1, TSPAN1 | R587Q, R609Q, R466Q | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Retinitis pigmentosa 76, Inborn genetic diseases, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided
| Uncertain significance
(Mar 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46658987
- GRCh38:
- Chr1:46193315
| POMGNT1, TSPAN1 | R224H, R345H, R367H | Muscular dystrophy-dystroglycanopathy, Intellectual disability, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided
| Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46661505
- GRCh38:
- Chr1:46195833
| POMGNT1, TSPAN1 | R149Q, R171Q, R28Q | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Retinitis pigmentosa 76, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46658068
- GRCh38:
- Chr1:46192396
| POMGNT1, TSPAN1 | R299H, R420H, R442H | not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscular dystrophy-dystroglycanopathy, Autosomal recessive limb-girdle muscular dystrophy
| Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46658028
- GRCh38:
- Chr1:46192356
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Retinitis pigmentosa 76, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Likely benign
(Aug 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46658328
- GRCh38:
- Chr1:46192656
| POMGNT1, TSPAN1 | | not provided, Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
| Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46658343
- GRCh38:
- Chr1:46192671
| POMGNT1, TSPAN1 | | not provided, Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
| Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46659363
- GRCh38:
- Chr1:46193691
| POMGNT1, TSPAN1 | | Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, not provided
| Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655590
- GRCh38:
- Chr1:46189918
| POMGNT1, TSPAN1 | T431I, T574I, T552I | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Uncertain significance
(Jul 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46661719
- GRCh38:
- Chr1:46196047
| POMGNT1, TSPAN1 | R129W, R107W | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Congenital Muscular Dystrophy, alpha-dystroglycan related,
not provided, Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
| Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46656400
- GRCh38:
- Chr1:46190728
| POMGNT1, TSPAN1 | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, not specified, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Conflicting interpretations of pathogenicity
(Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46663387
- GRCh38:
- Chr1:46197715
| POMGNT1 | R36Q | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Uncertain significance
(Dec 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46661577
- GRCh38:
- Chr1:46195905
| POMGNT1, TSPAN1 | R147H, R125H, R4H | Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not specified,
Autosomal recessive limb-girdle muscular dystrophy type 2O | Uncertain significance
(Jul 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46661749
- GRCh38:
- Chr1:46196077
| POMGNT1, TSPAN1 | V119M, V97M | not provided, Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O, Inborn genetic diseases,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655616-46655617
- GRCh38:
- Chr1:46189944-46189945
| POMGNT1, TSPAN1 | S543fs, S422fs, S565fs | Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Autosomal recessive limb-girdle muscular dystrophy type 2O | Pathogenic/Likely pathogenic
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46659061-46659062
- GRCh38:
- Chr1:46193389-46193390
| POMGNT1, TSPAN1 | | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O, Retinitis pigmentosa 76,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy
| Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46657853
- GRCh38:
- Chr1:46192181
| POMGNT1, TSPAN1 | R486G, R343G, R464G | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Retinitis pigmentosa 76, not provided, Inborn genetic diseases,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not specified
| Uncertain significance
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46654998
- GRCh38:
- Chr1:46189326
| POMGNT1, TSPAN1 | F643V, F634C, F621V, F500V | Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy, alpha-dystroglycan related, Limb-Girdle Muscular Dystrophy, Recessive,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Uncertain significance
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46657852
- GRCh38:
- Chr1:46192180
| POMGNT1, TSPAN1 | R486Q, R343Q, R464Q | not provided, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O
| Uncertain significance
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46657799
- GRCh38:
- Chr1:46192127
| POMGNT1, TSPAN1 | V504I, V482I, V361I | not specified, not provided, Congenital Muscular Dystrophy, alpha-dystroglycan related,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46660532
- GRCh38:
- Chr1:46194860
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscular dystrophy-dystroglycanopathy,
Autosomal recessive limb-girdle muscular dystrophy, Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided
| Pathogenic
(Mar 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46662609
- GRCh38:
- Chr1:46196937
| POMGNT1 | | not provided, not specified, Retinitis pigmentosa 76,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46658910
- GRCh38:
- Chr1:46193238
| POMGNT1, TSPAN1 | | not specified, not provided, Retinitis pigmentosa 76,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46659104
- GRCh38:
- Chr1:46193432
| POMGNT1, TSPAN1 | | Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, not specified,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Benign
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655100
- GRCh38:
- Chr1:46189428
| POMGNT1, TSPAN1 | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Retinitis pigmentosa 76, not specified,
not provided | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46659965
- GRCh38:
- Chr1:46194293
| POMGNT1, TSPAN1 | I287S, I144S, I265S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
not provided | Uncertain significance
(Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46657979
- GRCh38:
- Chr1:46192307
| POMGNT1, TSPAN1 | | Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46657847
- GRCh38:
- Chr1:46192175
| POMGNT1, TSPAN1 | R488G, R345G, R466G | Retinitis pigmentosa 76, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
not provided | Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655158
- GRCh38:
- Chr1:46189486
| POMGNT1, TSPAN1 | M480V, M601V | Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not specified, Muscle eye brain disease,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46659986
- GRCh38:
- Chr1:46194314
| POMGNT1, TSPAN1 | S280N, S258N, S137N | Inborn genetic diseases, Muscle eye brain disease, Retinitis pigmentosa 76,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not specified,
not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46660295
- GRCh38:
- Chr1:46194623
| POMGNT1, TSPAN1 | | Retinitis pigmentosa 76, Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O, not specified,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46662456
- GRCh38:
- Chr1:46196784
| POMGNT1 | V101I, V79I | Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Autosomal recessive limb-girdle muscular dystrophy type 2O, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2O,
not specified, Muscle eye brain disease | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46655129
- GRCh38:
- Chr1:46189457
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Myopathy caused by variation in POMGNT1, POMGNT1-Related Disorders,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Inborn genetic diseases, not provided, Muscular dystrophy-dystroglycanopathy
| Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655129
- GRCh38:
- Chr1:46189457
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Muscular dystrophy-dystroglycanopathy | Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655149
- GRCh38:
- Chr1:46189477
| POMGNT1, TSPAN1 | V483fs, V626fs, V604fs | Retinitis pigmentosa 76, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscle eye brain disease | Pathogenic/Likely pathogenic
(May 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655542
- GRCh38:
- Chr1:46189870
| TSPAN1, POMGNT1 | W590*, W568*, W447* | Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Retinitis pigmentosa 76, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46657769
- GRCh38:
- Chr1:46192097
| POMGNT1, TSPAN1 | | Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Muscle eye brain disease, Retinitis pigmentosa 76, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Myopathy caused by variation in POMGNT1, POMGNT1-Related Disorders,
Muscular dystrophy-dystroglycanopathy, Autosomal recessive limb-girdle muscular dystrophynot provided,
Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
...see more | Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46657840
- GRCh38:
- Chr1:46192168
| POMGNT1, TSPAN1 | C490Y, C347Y, C468Y | Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
not provided, Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy
| Pathogenic/Likely pathogenic
(May 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655211
- GRCh38:
- Chr1:46189539
| POMGNT1, TSPAN1 | R605P, R462P, R583P | Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided, Muscle eye brain disease,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Pathogenic/Likely pathogenic
(Jun 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655645
- GRCh38:
- Chr1:46189973
| POMGNT1, TSPAN1 | D556N, D413N, D534N | Retinitis pigmentosa 76, Congenital Muscular Dystrophy, alpha-dystroglycan related, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscle eye brain disease,
not specified, not provided, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
Autosomal recessive limb-girdle muscular dystrophy type 2O | Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46657884
- GRCh38:
- Chr1:46192212
| POMGNT1, TSPAN1 | W475*, W332*, W453* | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Pathogenic
(Oct 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr1:46655193
- GRCh38:
- Chr1:46189521
| POMGNT1, TSPAN1 | L468fs, L611fs, L589fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Pathogenic
(Mar 1, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr1:46662690
- GRCh38:
- Chr1:46197018
| POMGNT1 | R63*, R41* | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Pathogenic
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46659545
- GRCh38:
- Chr1:46193873
| POMGNT1, TSPAN1 | R311Q, R168Q, R289Q | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3,
not provided, Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy
| Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46658069
- GRCh38:
- Chr1:46192397
| POMGNT1, TSPAN1 | R442C, R420C, R299C | not provided, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy
| Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46657831
- GRCh38:
- Chr1:46192159
| POMGNT1, TSPAN1 | P493R, P350R, P471R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | Pathogenic
(Nov 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr1:46655592
- GRCh38:
- Chr1:46189920
| POMGNT1, TSPAN1 | H551fs, H573fs, H430fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscle eye brain disease | Pathogenic/Likely pathogenic
(Nov 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr1:46656145
- GRCh38:
- Chr1:46190473
| POMGNT1, TSPAN1 | S550N, S528N, S407N | Muscle eye brain disease | Likely pathogenic
(Jun 25, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46657979
- GRCh38:
- Chr1:46192307
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely pathogenic
(Jun 20, 2022) | criteria provided, single submitter |