| - GRCh37:
- Chr17:10551906
- GRCh38:
- Chr17:10648589
| MYH3 | K235E | Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Freeman-Sheldon syndrome
| Likely pathogenic
(Jul 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:10551879
- GRCh38:
- Chr17:10648562
| MYH3 | R244C | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr17:10548005
- GRCh38:
- Chr17:10644688
| MYH3 | A386S | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr17:10542382
- GRCh38:
- Chr17:10639065
| MYH3 | Q1076P | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr17:10538745
- GRCh38:
- Chr17:10635428
| MYH3 | Q1371* | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Contractures, pterygia, and variable skeletal fusions syndrome 1B | Pathogenic/Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr17:10552000-10552001
- GRCh38:
- Chr17:10648683-10648684
| MYH3 | | Arthrogryposis, distal, type 2B3, Contractures, pterygia, and variable skeletal fusions syndrome 1B, not provided,
Freeman-Sheldon syndrome, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10543282-10543283
- GRCh38:
- Chr17:10639965-10639966
| MYH3 | | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A,
not provided, Freeman-Sheldon syndrome | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10533199
- GRCh38:
- Chr17:10629882
| MYH3 | Q1873P | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | Uncertain significance
(Jun 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:10550538
- GRCh38:
- Chr17:10647221
| MYH3 | F287V | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | Likely pathogenic
(Aug 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:10538825
- GRCh38:
- Chr17:10635508
| MYH3 | L1344P | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | Uncertain significance
(Aug 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:10549250
- GRCh38:
- Chr17:10645933
| MYH3 | T333R | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | Likely pathogenic
(Aug 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:10559406
- GRCh38:
- Chr17:10656089
| MYH3 | | MYH3-Related Disorders, Contractures, pterygia, and variable skeletal fusions syndrome 1B, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A,
Spondylocarpotarsal synostosis syndrome, not provided | Pathogenic/Likely pathogenic
(Aug 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10551884
- Chr17:10551888
- GRCh38:
- Chr17:10648567
- Chr17:10648571
| MYH3, MYH3 | S242F, N241D | Spondylocarpotarsal synostosis syndrome, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | Uncertain significance
(Apr 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:10546532-10546704
- GRCh38:
- Chr17:10643215-10643387
| MYH3 | | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Spondylocarpotarsal synostosis syndrome | Pathogenic
(Apr 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:10558241
- GRCh38:
- Chr17:10654924
| MYH3 | Y47* | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Spondylocarpotarsal synostosis syndrome | Pathogenic
(Apr 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:10546142
- GRCh38:
- Chr17:10642825
| MYH3 | | Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Spondylocarpotarsal synostosis syndrome
| Pathogenic/Likely pathogenic
(Dec 2, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10536907
- GRCh38:
- Chr17:10633590
| MYH3 | | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Spondylocarpotarsal synostosis syndrome | Pathogenic
(Apr 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:10538727
- GRCh38:
- Chr17:10635410
| MYH3 | E1377Q | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Arthrogryposis, distal, type 1A, Distal arthrogryposis type 2B1,
not provided | Uncertain significance
(Jun 6, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10544659-10544663
- GRCh38:
- Chr17:10641342-10641346
| MYH3 | N662fs | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Spondylocarpotarsal synostosis syndrome,
not provided | Conflicting interpretations of pathogenicity
(Jan 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:10544697
- GRCh38:
- Chr17:10641380
| MYH3 | | Freeman-Sheldon syndrome, Arthrogryposis multiplex congenita, Arthrogryposis, distal, type 2B3,
Contractures, pterygia, and variable skeletal fusions syndrome 1B, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not provided
| Benign/Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10532884
- GRCh38:
- Chr17:10629567
| MYH3 | | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, not specified,
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not provided, Freeman-Sheldon syndrome
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10533595-10533596
- GRCh38:
- Chr17:10630278-10630279
| MYH3 | | not provided, Freeman-Sheldon syndrome, Arthrogryposis multiplex congenita,
Arthrogryposis, distal, type 2B3, Contractures, pterygia, and variable skeletal fusions syndrome 1B, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A,
not specified | Benign/Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10553046
- GRCh38:
- Chr17:10649729
| MYH3 | | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A,
not specified, not provided, Freeman-Sheldon syndrome
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10535349
- GRCh38:
- Chr17:10632032
| MYH3 | | not provided, Freeman-Sheldon syndrome, Contractures, pterygia, and variable skeletal fusions syndrome 1B,
Arthrogryposis, distal, type 2B3, not specified, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10535761
- GRCh38:
- Chr17:10632444
| MYH3 | | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A,
not specified, not provided, Freeman-Sheldon syndrome
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10555028
- GRCh38:
- Chr17:10651711
| MYH3 | | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A,
not specified, not provided, Freeman-Sheldon syndrome
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10555021
- GRCh38:
- Chr17:10651704
| MYH3 | | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, not specified,
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not provided, Freeman-Sheldon syndrome
| Benign/Likely benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10541680
- GRCh38:
- Chr17:10638363
| MYH3 | R1137C | Freeman-Sheldon syndrome, Contractures, pterygia, and variable skeletal fusions syndrome 1B, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A,
Arthrogryposis, distal, type 2B3, not specified, not provided,
Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1 | Benign/Likely benign
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10542803
- GRCh38:
- Chr17:10639486
| MYH3 | | not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1,
not specified, Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3,
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10544018
- GRCh38:
- Chr17:10640701
| MYH3 | | Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, not specified,
not provided, Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3,
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10546130
- GRCh38:
- Chr17:10642813
| MYH3 | | not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1,
Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A,
not specified | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10546149
- GRCh38:
- Chr17:10642832
| MYH3 | | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and variable skeletal fusions syndrome 1B,
Freeman-Sheldon syndrome, not specified, not provided,
Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1 | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10548992
- GRCh38:
- Chr17:10645675
| MYH3 | | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, not specified,
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not provided, Freeman-Sheldon syndrome
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10549184
- GRCh38:
- Chr17:10645867
| MYH3 | | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A,
not specified, not provided, Freeman-Sheldon syndrome
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10542392-10542393
- GRCh38:
- Chr17:10639075-10639076
| MYH3 | | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | Pathogenic
(May 19, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr17:10551880-10551882
- GRCh38:
- Chr17:10648563-10648565
| MYH3 | S243del | not provided | Likely pathogenic
(Oct 13, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:10542385
- GRCh38:
- Chr17:10639068
| MYH3 | Q1075P | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | Pathogenic
(May 19, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr17:10558264
- GRCh38:
- Chr17:10654947
| MYH3 | V40M | not provided, Freeman-Sheldon syndrome, Arthrogryposis, distal, type 2B3,
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Contractures, pterygia, and variable skeletal fusions syndrome 1B | Uncertain significance
(Sep 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10536018
- GRCh38:
- Chr17:10632701
| MYH3 | | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, not provided,
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not specified, Freeman-Sheldon syndrome,
Distal arthrogryposis type 2B1 | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10541515
- GRCh38:
- Chr17:10638198
| MYH3 | A1192T | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A,
not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1,
not specified | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10542471
- GRCh38:
- Chr17:10639154
| MYH3 | | Arthrogryposis, distal, type 2B3, Freeman-Sheldon syndrome, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A,
Arthrogryposis, distal, type 2B3, Contractures, pterygia, and variable skeletal fusions syndrome 1B, not provided,
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not specified, Freeman-Sheldon syndrome,
Contractures, pterygia, and variable skeletal fusions syndrome 1B, Distal arthrogryposis type 2B1 ...see more | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10542765
- GRCh38:
- Chr17:10639448
| MYH3 | | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A,
not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1,
not specified | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10542886
- GRCh38:
- Chr17:10639569
| MYH3 | | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, not provided,
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not specified, Freeman-Sheldon syndrome,
Distal arthrogryposis type 2B1 | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10543463
- GRCh38:
- Chr17:10640146
| MYH3 | | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, not provided,
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1,
not specified | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10544416
- GRCh38:
- Chr17:10641099
| MYH3 | | Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A,
not specified, not provided, Freeman-Sheldon syndrome,
Distal arthrogryposis type 2B1 | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:10551909
- GRCh38:
- Chr17:10648592
| MYH3 | A234T | Freeman-Sheldon syndrome, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Distal arthrogryposis type 2B1,
not provided | Likely pathogenic
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |