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
RS2143233837	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143255167	Health Risk	Pathogenic	—
RS2143255337	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143367390	Health Risk	Pathogenic	Abnormality of the musculature, Abnormality of the musculature
RS2143424506	Health Risk	Pathogenic	—
RS2143438994	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143484371	Health Risk	Pathogenic	—
RS2143570702	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143616842	Health Risk	Pathogenic	—
RS2143632512	Health Risk	Pathogenic	Proximal upper limb muscle weakness, Proximal upper limb muscle weakness
RS2143801614	Health Risk	Pathogenic	Muscle weakness, Facioscapulohumeral muscular dystrophy 2, Muscle weakness
RS2143805963	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2509971762	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510021670	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510021968	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510027769	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510061846	Health Risk	Pathogenic	SMCHD1-related disorder, SMCHD1-related disorder
RS2510061859	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510085323	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510110238	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510110251	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510152222	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS377471712	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS387907319	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS397514623	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS867598503	Health Risk	Pathogenic	—
RS867694014	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886041918	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886041921	Health Risk	Pathogenic	—
RS886042417	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886043146	Health Risk	Pathogenic	—
RS886043182	Health Risk	Pathogenic	—
RS886044129	Health Risk	Pathogenic	—
RS886044419	Health Risk	Pathogenic	—
RS924153704	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1345926097	Health Risk	Pathogenic/Likely pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1555625396	Health Risk	Pathogenic/Likely pathogenic	Chédiak-Higashi syndrome, Cervical cancer, Chédiak-Higashi syndrome
RS201632358	Health Risk	Pathogenic/Likely pathogenic	Facioscapulohumeral muscular dystrophy 2, Male infertility with azoospermia or oligozoospermia due to single gene mutation, Facioscapulohumeral muscular dystrophy 2
RS2073052786	Health Risk	Pathogenic/Likely pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2075161459	Health Risk	Pathogenic/Likely pathogenic	Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases, Malignant lymphoma
RS2075161499	Health Risk	Pathogenic/Likely pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510041967	Health Risk	Pathogenic/Likely pathogenic	Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510122804	Health Risk	Pathogenic/Likely pathogenic	—

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