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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
GConflicting classifications of pathogenicity
EMD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EMD
(E145K)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
(R211H)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
(L239F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
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