SMCHD1 Chromosome 18

Structural maintenance of chromosomes flexible hinge domain containing 1
193 variants 193 Health Risk

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
RS755868793 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS757300247 Health Risk Conflicting classifications of pathogenicity —
RS758075470 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS760266416 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS760383946 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS760569762 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS76290319 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases, Facioscapulohumeral muscular dystrophy 2
RS763101269 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS763699437 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS765362255 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS766395572 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, SMCHD1-related disorder, Facioscapulohumeral muscular dystrophy 2
RS766575963 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, SMCHD1-related disorder, Facioscapulohumeral muscular dystrophy 2
RS769558309 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS769766392 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS769850705 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS770290837 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS772038791 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS772718353 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS774077792 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS776794549 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS778279069 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS778892054 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS779941077 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases, Facioscapulohumeral muscular dystrophy 2
RS886042282 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886042374 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886042392 Health Risk Conflicting classifications of pathogenicity Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome
RS886043095 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886043464 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886043784 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886044081 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886044408 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886044517 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS942559171 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1057519646 Health Risk Likely pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, SMCHD1-related disorder, Facioscapulohumeral muscular dystrophy 2
RS1204021010 Health Risk Likely pathogenic Scapulohumeral muscular dystrophy, Scapulohumeral muscular dystrophy
RS1248130436 Health Risk Likely pathogenic SMCHD1-related disorder, SMCHD1-related disorder
RS1555658855 Health Risk Likely pathogenic —
RS1568383892 Health Risk Likely pathogenic —
RS1598426626 Health Risk Likely pathogenic Scapulohumeral muscular dystrophy, Scapulohumeral muscular dystrophy
RS2143241656 Health Risk Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143530610 Health Risk Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143729488 Health Risk Likely pathogenic —
RS2509974050 Health Risk Likely pathogenic —
RS2510028167 Health Risk Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510034129 Health Risk Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510097246 Health Risk Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510103152 Health Risk Likely pathogenic —
RS2510150838 Health Risk Likely pathogenic —
RS2510152204 Health Risk Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510156483 Health Risk Likely pathogenic —
« Prev 1 2 3 4 Next »
Sign Up to Analyze Your DNA Log In