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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZ
(S233R)
Single nucleotide variant
(missense variant)
Roussy-Lévy syndrome
+4 more
GLikely pathogenic
CLCN1
(R317Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GPathogenic/Likely pathogenic
CAPN3
(T184fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+24 more
GPathogenic
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
AARS1
(V685A)
Single nucleotide variant
(missense variant)
Clubfoot
+7 more
GUncertain significance
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