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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DMD
(E182A +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
DMD
(A2395T +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DMD
(W1694* +5 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DMD
Copy number loss
DMD-Related Disorder
Gnot provided
DMD
Copy number loss
Duchenne muscular dystrophy
+1 more
Gnot provided
DCAF8L1, DCAF8L2
+12 more
Deletion
Chromosome Xp21 deletion syndrome
Gnot provided
DMD
Copy number loss
not provided
Gnot provided
DMD
Copy number gain
Duchenne muscular dystrophy
+1 more
Gnot provided
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