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 |
|---|---|---|---|
| RS1057519643 | Health Risk | Conflicting classifications of pathogenicity | Arrhinia with choanal atresia and microphthalmia syndrome, Facioscapulohumeral muscular dystrophy 2, Arrhinia with choanal atresia and microphthalmia syndrome |
| RS112500113 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS113434340 | Health Risk | Conflicting classifications of pathogenicity | Scapulohumeral muscular dystrophy, Facioscapulohumeral muscular dystrophy 2, Scapulohumeral muscular dystrophy |
| RS1172138387 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS1324600079 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS139872818 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS1408054045 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS144115061 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS145233420 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases, Facioscapulohumeral muscular dystrophy 2 |
| RS146798599 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS151311806 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases, Facioscapulohumeral muscular dystrophy 2 |
| RS1555622278 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS1568336400 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS199901577 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Lung cancer, Facioscapulohumeral muscular dystrophy 2 |
| RS200391083 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS201069969 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS201071071 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases, Facioscapulohumeral muscular dystrophy 2 |
| RS201466122 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS201497685 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS201631086 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, SMCHD1-related disorder, Facioscapulohumeral muscular dystrophy 2 |
| RS2074381441 | Health Risk | Conflicting classifications of pathogenicity | See cases, Facioscapulohumeral muscular dystrophy 2, See cases |
| RS2074997790 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2510085106 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS368857612 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS369084979 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS369550628 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS370473143 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases, Facioscapulohumeral muscular dystrophy 2 |
| RS371834462 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS372008124 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS372945746 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS374154803 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS374899324 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, SMCHD1-related disorder, Facioscapulohumeral muscular dystrophy 2 |
| RS375198512 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases, Facioscapulohumeral muscular dystrophy 2 |
| RS375251871 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, SMCHD1-related disorder, Facioscapulohumeral muscular dystrophy 2 |
| RS376058538 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS376328601 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS535674229 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases, Facioscapulohumeral muscular dystrophy 2 |
| RS539377223 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS542259388 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, SMCHD1-related disorder, Facioscapulohumeral muscular dystrophy 2 |
| RS553970445 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS569470518 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases, Facioscapulohumeral muscular dystrophy 2 |
| RS58683258 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS7229488 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS72862973 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS746148722 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS747331582 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS749634060 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases |
| RS750301200 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases, Facioscapulohumeral muscular dystrophy 2 |
| RS751707679 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS752013568 | Health Risk | Conflicting classifications of pathogenicity | Facioscapulohumeral muscular dystrophy 2, SMCHD1-related disorder, Facioscapulohumeral muscular dystrophy 2 |