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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAPN3
(T184fs)
Deletion
(frameshift variant)
Muscular dystrophy
+24 more
GPathogenic
CAPN3
(Q188fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CAPN3
(Y249*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic/Likely pathogenic
CAPN3
(W373R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+3 more
GConflicting classifications of pathogenicity
CAPN3
(E435K +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+3 more
GPathogenic/Likely pathogenic
CAPN3, LOC130056921
(W407R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
(Y537* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+3 more
GPathogenic
CAPN3
(E110fs +2 more)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
CAPN3
(E716D +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CAPN3
(N776S +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
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