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Items: 1 to 100 of 1836

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAPN3, EHD4
+44 more
Copy number gain
See cases
GUncertain significance
CAPN3, GANC
Copy number loss
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
Single nucleotide variant
not provided
GLikely benign
CAPN3
Single nucleotide variant
not provided
GLikely benign
CAPN3
Single nucleotide variant
not provided
GBenign
CAPN3
Single nucleotide variant
not provided
GBenign
CAPN3, LOC126862115
+2 more
Deletion
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
Single nucleotide variant
(5 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Recessive
+1 more
GUncertain significance
CAPN3
Single nucleotide variant
(5 prime UTR variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+2 more
GUncertain significance
CAPN3
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CAPN3
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
LOC130056921, CAPN3
+2 more
Deletion
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3, LOC126862115
Deletion
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
Deletion
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
(M1V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
(M1fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
(M1T)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely pathogenic
CAPN3
(M1I)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
(P2R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(T3A)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+2 more
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(V4I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+2 more
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(I5V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(A7T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
(A7P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(V9L)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(A14E)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
(A14V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(E16K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAPN3
(E16A)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GConflicting classifications of pathogenicity
CAPN3
(P17S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(R18W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CAPN3
(R18Q)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(P20fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic/Likely pathogenic
CAPN3
(P22fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic
CAPN3
(P22fs)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
(G21W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CAPN3
(G21E)
Single nucleotide variant
(missense variant)
Limb-Girdle Muscular Dystrophy, Recessive
+3 more
GConflicting classifications of pathogenicity
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(V23L)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Deletion
(inframe_deletion)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
(H25Y)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(P26R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
(P26L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(synonymous variant)
Limb-Girdle Muscular Dystrophy, Recessive
+2 more
GBenign/Likely benign
CAPN3
(S29R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAPN3
(E33K)
Inversion
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
CAPN3
(E33K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CAPN3
(A34fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic
CAPN3
(A34P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CAPN3
(A34T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
(A34G)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
(G36fs)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
(G35A)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(G36A)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(I46fs)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
(A45T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+3 more
GPathogenic/Likely pathogenic
CAPN3
(A45V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(S48N)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
(R49C)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+3 more
GPathogenic/Likely pathogenic
CAPN3
(R49H)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+4 more
GPathogenic/Likely pathogenic
CAPN3
(N50S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
(F51L)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
(I53V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(I54V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(G55R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CAPN3
(K57E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAPN3
(E58K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+2 more
GConflicting classifications of pathogenicity
CAPN3
(E62K)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(H65fs)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
(H65D)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
(K66Q)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
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