NM_002470.4(MYH3):c.-9+1G>APathogenic
Spondylocarpotarsal synostosis syndrome;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A|Contractures, pterygia, and variable skeletal fusions syndrome 1B|Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A|not provided|MYH3-related disorder
β
β
ββ2026
NM_002470.4(MYH3):c.2682+1G>ALikely pathogenic
not provided|MYH3-related disorder|Freeman-Sheldon syndrome
β
β
ββ2026
NM_002470.4(MYH3):c.2014C>T (p.Arg672Cys)Pathogenic
Freeman-Sheldon syndrome|not provided
β
β
ββ2025β Residue 672
NM_002470.4(MYH3):c.2776_2779del (p.Arg926fs)Pathogenic
not provided|MYH3-related disorder
β
β
ββ2025β Residue 926
NM_002470.4(MYH3):c.4525G>T (p.Glu1509Ter)Pathogenic
not provided
β
β
ββ2025β Residue 1509
NM_002470.4(MYH3):c.5563-1G>CLikely pathogenic
not provided
β
β
ββ2025
NM_002470.4(MYH3):c.3329_3330del (p.Lys1110fs)Pathogenic
not provided
β
β
ββ2025β Residue 1110
NM_002470.4(MYH3):c.533C>T (p.Thr178Ile)Pathogenic
Freeman-Sheldon syndrome|Arthrogryposis, distal, type 2B3|not provided|MYH3-related disorder
β
β
ββ2024β Residue 178
NM_002470.4(MYH3):c.3751C>T (p.Arg1251Ter)Pathogenic
Inborn genetic diseases|not provided
β
β
ββ2024β Residue 1251
NM_002470.4(MYH3):c.2170C>T (p.Arg724Ter)Pathogenic
not provided|Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
β
β
ββ2024β Residue 724
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del)Likely pathogenic
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A|not provided|Spondylocarpotarsal synostosis syndrome
β
β
ββ2024β Residue 243
NM_002470.4(MYH3):c.533+1G>ALikely pathogenic
not provided|MYH3-related disorder
β
β
ββ2023
NM_002470.4(MYH3):c.4726_4729del (p.Lys1576fs)Pathogenic
not provided
β
β
ββ2023β Residue 1576
NM_002470.4(MYH3):c.2015G>A (p.Arg672His)Pathogenic
Freeman-Sheldon syndrome|not provided|Arthrogryposis, distal, type 2B3;Contractures, pterygia, and variable skeletal fusions syndrome 1B;Freeman-Sheldon syndrome;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
β
β
ββ2023β Residue 672
NM_002470.4(MYH3):c.2306G>A (p.Gly769Asp)Likely pathogenic
not provided
β
β
ββ2022β Residue 769
NM_002470.4(MYH3):c.1102A>T (p.Lys368Ter)Pathogenic
not provided
β
β
ββ2022β Residue 368
NM_002470.4(MYH3):c.1581+1G>APathogenic
Spondylocarpotarsal synostosis syndrome;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A|Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A|Arthrogryposis, distal, type 2B3
β
β
ββ2019
NM_002470.4(MYH3):c.1748A>C (p.Tyr583Ser)Pathogenic
Freeman-Sheldon syndrome|Freeman-Sheldon syndrome;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A;Contractures, pterygia, and variable skeletal fusions syndrome 1B;Arthrogryposis, distal, type 2B3
β
β
ββ2019β Residue 583
NM_002470.4(MYH3):c.1216A>T (p.Lys406Ter)Pathogenic
not provided
β
βββ2025β Residue 406
NM_002470.4(MYH3):c.4023_4024del (p.Cys1341_Asp1342delinsTer)Pathogenic
not provided
β
βββ2025β Residue 1341