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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAPN3
(A45T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+3 more
GPathogenic/Likely pathogenic
CAPN3
(A116D)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
(T184fs)
Deletion
(frameshift variant)
Muscle weakness
+24 more
GPathogenic
CAPN3
Deletion
(inframe_deletion)
not provided
+2 more
GPathogenic
CAPN3
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+2 more
GPathogenic
CAPN3
(Q374R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
Gnot provided
CAPN3
(R489Q +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+4 more
GPathogenic/Likely pathogenic
CAPN3
(T599fs +1 more)
Duplication
(frameshift variant +2 more)
not provided
+3 more
GPathogenic
CAPN3
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+2 more
GPathogenic
CAPN3
(R769Q +4 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+3 more
GPathogenic
CAPN3
(D780H +4 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+2 more
GPathogenic
CAPN3
(R123fs +4 more)
Indel
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+3 more
GPathogenic
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