| - GRCh37:
- Chr1:46661699
- GRCh38:
- Chr1:46196027
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely benign
(Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46658094
- GRCh38:
- Chr1:46192422
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely benign
(Oct 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46661599
- GRCh38:
- Chr1:46195927
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662437
- GRCh38:
- Chr1:46196765
| POMGNT1 | R107H, R85H | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46659283
- GRCh38:
- Chr1:46193611
| POMGNT1, TSPAN1 | G305R, G184R, G327R | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46658897
- GRCh38:
- Chr1:46193225
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46660554
- GRCh38:
- Chr1:46194882
| POMGNT1, TSPAN1 | G183D, G205D, G62D | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662689
- GRCh38:
- Chr1:46197017
| POMGNT1 | R41Q, R63Q | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46659276
- GRCh38:
- Chr1:46193604
| POMGNT1, TSPAN1 | S186F, S307F, S329F | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46660603
- GRCh38:
- Chr1:46194931
| POMGNT1, TSPAN1 | A167P, A189P, A46P | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662762
- GRCh38:
- Chr1:46197090
| POMGNT1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - 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:
- Chr1:46658894
- GRCh38:
- Chr1:46193222
| POMGNT1, TSPAN1 | | Muscle eye brain disease | Uncertain significance
(Aug 16, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:46657974
- GRCh38:
- Chr1:46192302
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46655186
- GRCh38:
- Chr1:46189514
| POMGNT1, TSPAN1 | | Muscle eye brain disease | Uncertain significance
(Aug 16, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:46654940
- GRCh38:
- Chr1:46189268
| POMGNT1, TSPAN1 | R653S | Muscle eye brain disease | Uncertain significance
(Aug 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:46662453
- GRCh38:
- Chr1:46196781
| POMGNT1 | E102*, E80* | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscle eye brain disease
| Pathogenic
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655158
- GRCh38:
- Chr1:46189486
| POMGNT1, TSPAN1 | M623L, M480L, M601L | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46658049
- GRCh38:
- Chr1:46192377
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely benign
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662692
- GRCh38:
- Chr1:46197020
| POMGNT1 | R62Q, R40Q | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided
| Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46659303
- GRCh38:
- Chr1:46193631
| POMGNT1, TSPAN1 | R177H, R298H, R320H | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662696
- GRCh38:
- Chr1:46197024
| POMGNT1 | T39A, T61A | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46657895
- GRCh38:
- Chr1:46192223
| POMGNT1, TSPAN1 | L472I, L329I, L450I | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46663372
- GRCh38:
- Chr1:46197700
| POMGNT1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely pathogenic
(Jul 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46660606
- GRCh38:
- Chr1:46194934
| POMGNT1, TSPAN1 | T188A, T166A, T45A | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46663472
- GRCh38:
- Chr1:46197800
| POMGNT1 | P8T | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662432
- GRCh38:
- Chr1:46196760
| POMGNT1 | K87E, K109E | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655179
- GRCh38:
- Chr1:46189507
| POMGNT1, TSPAN1 | R473W, R616W, R594W | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46655136
- GRCh38:
- Chr1:46189464
| POMGNT1, TSPAN1 | P487R, P608R, P630R | 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,
not provided, Congenital Muscular Dystrophy, alpha-dystroglycan related | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46658985
- GRCh38:
- Chr1:46193313
| POMGNT1, TSPAN1 | V368M, V225M, V346M | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46655014
- GRCh38:
- Chr1:46189342
| POMGNT1, TSPAN1 | L629V | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46655531
- GRCh38:
- Chr1:46189859
| POMGNT1, TSPAN1 | A451S, A572S, A594S | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46659551
- GRCh38:
- Chr1:46193879
| POMGNT1, TSPAN1 | G309E, G166E, G287E | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O | Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46657998
- GRCh38:
- Chr1:46192326
| TSPAN1, POMGNT1 | K322N, K443N, K465N | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O | Uncertain significance
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46658847
- GRCh38:
- Chr1:46193175
| POMGNT1, TSPAN1 | P241L, P362L, P384L | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O, not provided
| Uncertain significance
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46660053
- GRCh38:
- Chr1:46194381
| TSPAN1, POMGNT1 | D236N, D115N, D258N | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O | Uncertain significance
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46658206
- GRCh38:
- Chr1:46192534
| TSPAN1, POMGNT1 | S280F, S401F, S423F | Muscle eye brain disease | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46656198
- GRCh38:
- Chr1:46190526
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46661525
- GRCh38:
- Chr1:46195853
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely benign
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46656197
- GRCh38:
- Chr1:46190525
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46660241
- GRCh38:
- Chr1:46194569
| POMGNT1, TSPAN1 | | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Likely benign
(May 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46661684
- GRCh38:
- Chr1:46196012
| POMGNT1, TSPAN1 | | Congenital Muscular Dystrophy, alpha-dystroglycan related, 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 | Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46661605
- GRCh38:
- Chr1:46195933
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely benign
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46655553
- GRCh38:
- Chr1:46189881
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely benign
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46658896
- GRCh38:
- Chr1:46193224
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided
| Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46660029
- GRCh38:
- Chr1:46194357
| POMGNT1, TSPAN1 | R123W, R266W, R244W | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - 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:
- Chr1:46660229
- GRCh38:
- Chr1:46194557
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely benign
(Oct 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662507
- GRCh38:
- Chr1:46196835
| POMGNT1 | R62C, R84C | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Congenital Muscular Dystrophy, alpha-dystroglycan related,
Autosomal recessive limb-girdle muscular dystrophy type 2O | Uncertain significance
(Mar 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46663487
- GRCh38:
- Chr1:46197815
| POMGNT1 | D3Y | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided
| Conflicting interpretations of pathogenicity
(Jul 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46662693
- GRCh38:
- Chr1:46197021
| POMGNT1 | R40W, R62W | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Jun 20, 2022) | criteria provided, single submitter |
| - 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:
- Chr1:46656435
- GRCh38:
- Chr1:46190763
| POMGNT1, TSPAN1 | K499E, K521E, K378E | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided
| Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655642
- GRCh38:
- Chr1:46189970
| POMGNT1, TSPAN1 | H535N, H414N, H557N | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662717
- GRCh38:
- Chr1:46197045
| POMGNT1 | N32D, N54D | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46655015
- GRCh38:
- Chr1:46189343
| POMGNT1, TSPAN1 | P615L, P637L, P494L | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46661578
- GRCh38:
- Chr1:46195906
| POMGNT1, TSPAN1 | R147C, R125C, R4C | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46662470
- GRCh38:
- Chr1:46196798
| POMGNT1 | R96Q, R74Q | Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy, alpha-dystroglycan related, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided | Uncertain significance
(May 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655618
- GRCh38:
- Chr1:46189946
| TSPAN1, POMGNT1 | S543T, S422T, S565T | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided
| Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46658585
- GRCh38:
- Chr1:46192913
| POMGNT1, TSPAN1 | V378L, V400L, V257L | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O | Uncertain significance
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46655149
- GRCh38:
- Chr1:46189477
| POMGNT1, TSPAN1 | V483I, V604I, V626I | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O | Uncertain significance
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46660515
- GRCh38:
- Chr1:46194843
| POMGNT1, TSPAN1 | | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O, not provided
| Pathogenic/Likely pathogenic
(Feb 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46662400
- GRCh38:
- Chr1:46196728
| POMGNT1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Inborn genetic diseases,
not provided | Uncertain significance
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46661590
- GRCh38:
- Chr1:46195918
| POMGNT1, TSPAN1 | V143M, V121M | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided
| Uncertain significance
(Jul 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46660221
- GRCh38:
- Chr1:46194549
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided
| Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46662720
- GRCh38:
- Chr1:46197048
| POMGNT1 | V53I, V31I | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided
| Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655001
- GRCh38:
- Chr1:46189329
| POMGNT1, TSPAN1 | I642F, N633I, I499F, I620F | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided
| Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46662692
- GRCh38:
- Chr1:46197020
| POMGNT1 | R62P, R40P | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46655614
- GRCh38:
- Chr1:46189942
| POMGNT1, TSPAN1 | F566S, F423S, F544S | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46661685
- GRCh38:
- Chr1:46196013
| TSPAN1, POMGNT1 | T140M, T118M | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Uncertain significance
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46660072
- GRCh38:
- Chr1:46194400
| POMGNT1, TSPAN1 | E251D, E229D, E108D | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided,
Muscle eye brain disease | Uncertain significance
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46660031
- GRCh38:
- Chr1:46194359
| POMGNT1, TSPAN1 | R265P, R122P, R243P | Muscle eye brain disease | Uncertain significance
(May 30, 2018) | criteria provided, single submitter |
| - 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:
- Chr1:46654581-46654607
- GRCh38:
- Chr1:46188909-46188935
| POMGNT1, TSPAN1 | | Muscle eye brain disease | Uncertain significance
(Apr 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46658844
- GRCh38:
- Chr1:46193172
| POMGNT1, TSPAN1 | | Muscle eye brain disease | Likely pathogenic
(May 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46654909-46654912
- GRCh38:
- Chr1:46189237-46189240
| POMGNT1, TSPAN1 | | Muscle eye brain disease | Uncertain significance
(Apr 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46654950-46654951
- GRCh38:
- Chr1:46189278-46189279
| POMGNT1, TSPAN1 | | Muscle eye brain disease | Uncertain significance
(Apr 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46655129
- GRCh38:
- Chr1:46189457
| POMGNT1, TSPAN1 | | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655020
- GRCh38:
- Chr1:46189348
| POMGNT1, TSPAN1 | K492fs, K613fs, A627fs, K635fs | Muscle eye brain disease | Likely pathogenic
(Feb 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46654536-46654537
- GRCh38:
- Chr1:46188864-46188865
| POMGNT1, TSPAN1 | A701fs | Muscle eye brain disease | Uncertain significance
(Dec 4, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46655181-46655183
- GRCh38:
- Chr1:46189509-46189511
| TSPAN1, POMGNT1 | L614del, L592del, L471del | Muscle eye brain disease | Uncertain significance
(Nov 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46654932-46654934
- GRCh38:
- Chr1:46189260-46189262
| POMGNT1, TSPAN1 | P656del | Muscle eye brain disease | Uncertain significance
(Nov 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46656190
- GRCh38:
- Chr1:46190518
| TSPAN1, POMGNT1 | | Muscle eye brain disease | Likely pathogenic
(Nov 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46654443
- GRCh38:
- Chr1:46188771
| POMGNT1, TSPAN1 | W732* | Muscle eye brain disease | Uncertain significance
(Nov 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46654978
- GRCh38:
- Chr1:46189306
| POMGNT1, TSPAN1 | K649N, G641*, K506N, K627N | Muscle eye brain disease | Uncertain significance
(Nov 14, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46654429
- GRCh38:
- Chr1:46188757
| TSPAN1, POMGNT1 | L737fs | Muscle eye brain disease | Uncertain significance
(Oct 25, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46655107-46655108
- GRCh38:
- Chr1:46189435-46189436
| POMGNT1, TSPAN1 | | Muscle eye brain disease | Likely benign
(Oct 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46657796
- GRCh38:
- Chr1:46192124
| POMGNT1, TSPAN1 | G505S, G362S, G483S | Muscular dystrophy-dystroglycanopathy, Autosomal recessive limb-girdle muscular dystrophy, Muscle eye brain disease,
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
| Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46656143
- GRCh38:
- Chr1:46190471
| POMGNT1, TSPAN1 | | Muscle eye brain disease | Likely pathogenic
(Aug 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46654411
- GRCh38:
- Chr1:46188739
| POMGNT1, TSPAN1 | Q743* | Muscle eye brain disease | Uncertain significance
(Aug 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46656391
- GRCh38:
- Chr1:46190719
| POMGNT1, TSPAN1 | | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Likely pathogenic
(Oct 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46662643-46662644
- GRCh38:
- Chr1:46196971-46196972
| POMGNT1 | | Muscle eye brain disease | Likely pathogenic
(Jul 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46655173
- GRCh38:
- Chr1:46189501
| POMGNT1, TSPAN1 | K618*, K475*, K596* | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Pathogenic/Likely pathogenic
(Aug 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655240
- GRCh38:
- Chr1:46189568
| POMGNT1, TSPAN1 | | Muscle eye brain disease | Likely pathogenic
(Jun 9, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46659598
- GRCh38:
- Chr1:46193926
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy, Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely pathogenic
(Apr 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46660325
- GRCh38:
- Chr1:46194653
| POMGNT1, TSPAN1 | | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Likely pathogenic
(Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46661559
- GRCh38:
- Chr1:46195887
| POMGNT1, TSPAN1 | S153*, S10*, S131* | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Pathogenic
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46655160
- GRCh38:
- Chr1:46189488
| POMGNT1, TSPAN1 | L622P, L600P, L479P | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Uncertain significance
(Jul 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46656390
- GRCh38:
- Chr1:46190718
| POMGNT1, TSPAN1 | | Muscle eye brain disease | Likely pathogenic
(Mar 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:46658263
- GRCh38:
- Chr1:46192591
| TSPAN1, POMGNT1 | | Muscle eye brain disease | Likely pathogenic
(Feb 17, 2017) | criteria provided, single submitter |