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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMCHD1
Single nucleotide variant
(intron variant)
Facioscapulohumeral muscular dystrophy 2
+1 more
GLikely benign
SMCHD1
(T1176I)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
+2 more
GUncertain significance
SMCHD1
(T1176M)
Inversion
(missense variant)
Facioscapulohumeral muscular dystrophy 2
+2 more
GUncertain significance
SMCHD1
(T1603I)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
+3 more
GBenign/Likely benign
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