SMCHD1 Chromosome 18
Structural maintenance of chromosomes flexible hinge domain containing 1
Upload your DNA to see your personal genotypes for variants in SMCHD1.
What This Gene Does
This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
Associated Conditions (19)
Arrhinia with choanal atresia and microphthalmia syndrome
Facioscapulohumeral muscular dystrophy 2
Scapulohumeral muscular dystrophy
Inborn genetic diseases
Lung cancer
SMCHD1-related disorder
See cases
Short nose
Anosmia
Muscular atrophy
Abnormality of the musculature
Proximal upper limb muscle weakness
Muscle weakness
Chédiak-Higashi syndrome
Cervical cancer
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Malignant lymphoma
large B-cell
diffuse
Key Variants
RS1057519643
Conflicting classifications of pathogenicity
Arrhinia with choanal atresia and microphthalmia syndrome, Facioscapulohumeral muscular dystrophy 2, Arrhinia with choanal atresia and microphthalmia syndrome
Health Risk
RS112500113
Conflicting classifications of pathogenicity
Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
Health Risk
RS113434340
Conflicting classifications of pathogenicity
Scapulohumeral muscular dystrophy, Facioscapulohumeral muscular dystrophy 2, Scapulohumeral muscular dystrophy
Health Risk
RS1172138387
Conflicting classifications of pathogenicity
Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
Health Risk
RS1324600079
Conflicting classifications of pathogenicity
Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
Health Risk
RS139872818
Conflicting classifications of pathogenicity
Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
Health Risk
RS1408054045
Conflicting classifications of pathogenicity
Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
Health Risk
RS144115061
Conflicting classifications of pathogenicity
Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
Health Risk
RS145233420
Conflicting classifications of pathogenicity
Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases, Facioscapulohumeral muscular dystrophy 2
Health Risk
RS146798599
Conflicting classifications of pathogenicity
Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
Health Risk
RS151311806
Conflicting classifications of pathogenicity
Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases, Facioscapulohumeral muscular dystrophy 2
Health Risk
RS1555622278
Conflicting classifications of pathogenicity
Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
Health Risk
All Variants (193)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2510180471 | Health Risk | Likely pathogenic | — |
| RS746679988 | Health Risk | Likely pathogenic | — |
| RS867104086 | Health Risk | Likely pathogenic | Scapulohumeral muscular dystrophy, Scapulohumeral muscular dystrophy |
| RS886044257 | Health Risk | Likely pathogenic | — |
| RS886044369 | Health Risk | Likely pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS886044914 | Health Risk | Likely pathogenic | Scapulohumeral muscular dystrophy, Scapulohumeral muscular dystrophy |
| RS1057519614 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS1057519640 | Health Risk | Pathogenic | Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome |
| RS1057519641 | Health Risk | Pathogenic | Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome |
| RS1057519642 | Health Risk | Pathogenic | Arrhinia with choanal atresia and microphthalmia syndrome, Short nose, Anosmia |
| RS1057519644 | Health Risk | Pathogenic | Arrhinia with choanal atresia and microphthalmia syndrome, Facioscapulohumeral muscular dystrophy 2, Arrhinia with choanal atresia and microphthalmia syndrome |
| RS1057519645 | Health Risk | Pathogenic | Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome |
| RS1135402737 | Health Risk | Pathogenic | Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome |
| RS1135402738 | Health Risk | Pathogenic | Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome |
| RS1135402739 | Health Risk | Pathogenic | Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome |
| RS1135402741 | Health Risk | Pathogenic | Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome |
| RS1135402742 | Health Risk | Pathogenic | Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome |
| RS1135402743 | Health Risk | Pathogenic | Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome |
| RS1135402744 | Health Risk | Pathogenic | Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome |
| RS1135402745 | Health Risk | Pathogenic | Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome |
| RS1224850132 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS1245372794 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS1329504858 | Health Risk | Pathogenic | Scapulohumeral muscular dystrophy, Scapulohumeral muscular dystrophy |
| RS1555622310 | Health Risk | Pathogenic | — |
| RS1555635144 | Health Risk | Pathogenic | — |
| RS1555642277 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS1555644339 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS1555647265 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS1555651730 | Health Risk | Pathogenic | — |
| RS1555654127 | Health Risk | Pathogenic | — |
| RS1568183325 | Health Risk | Pathogenic | — |
| RS1568188407 | Health Risk | Pathogenic | — |
| RS1568261067 | Health Risk | Pathogenic | — |
| RS1568350731 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS1598416221 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2073049380 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2074549354 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2074555124 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2075160048 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2075161300 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2075307655 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2075308386 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2075396572 | Health Risk | Pathogenic | Muscular atrophy, Muscular atrophy |
| RS2075566961 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2143048943 | Health Risk | Pathogenic | — |
| RS2143155004 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2143182200 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2143184995 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2143213381 | Health Risk | Pathogenic | — |
| RS2143214372 | Health Risk | Pathogenic | Abnormality of the musculature, Abnormality of the musculature |