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Items: 1 to 100 of 230

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAPN3
(G284fs)
Duplication
(frameshift variant +1 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
CAPN3
(E198* +1 more)
Single nucleotide variant
(nonsense +1 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GPathogenic
CAPN3
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
CAPN3
(T194K +4 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
CAPN3
(D115fs +4 more)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
CAPN3
(V235fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GPathogenic
CAPN3
(W286* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
CAPN3
(D225N +4 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
LOC126862115, CAPN3
Single nucleotide variant
(splice donor variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
CAPN3
Single nucleotide variant
(splice donor variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GPathogenic
CAPN3
Single nucleotide variant
(splice donor variant +1 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GPathogenic
CAPN3
(Q517* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GPathogenic
CAPN3
(M351fs +1 more)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
CAPN3
(K443fs +1 more)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic
CAPN3
(M154fs +4 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
CAPN3
(F598fs +2 more)
Duplication
(frameshift variant +1 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
CAPN3
(Q301* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic
CAPN3
(E108fs +2 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GPathogenic
CAPN3, LOC126862115
(V148I +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
CAPN3
(T599fs +1 more)
Deletion
(frameshift variant +2 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GPathogenic
CAPN3
(R169H +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GConflicting classifications of pathogenicity
CAPN3
(S426fs +1 more)
Indel
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
CAPN3
(M127K +4 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GPathogenic
CAPN3
Duplication
(nonsense)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
CAPN3
(Y251* +4 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GPathogenic
CAPN3
(R350G +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic/Likely pathogenic
CAPN3, LOC126862115
(Q142* +1 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GPathogenic
CAPN3, LOC126862115
(S154fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
CAPN3
(Q632fs +2 more)
Duplication
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GLikely pathogenic
CAPN3
(H682fs +4 more)
Duplication
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GLikely pathogenic
CAPN3
(Y89C)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GUncertain significance
CAPN3
(R608K +2 more)
Single nucleotide variant
(intron variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GConflicting classifications of pathogenicity
CAPN3
Single nucleotide variant
(splice donor variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic/Likely pathogenic
CAPN3
(Q123* +2 more)
Single nucleotide variant
(nonsense +1 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic/Likely pathogenic
CAPN3
(V291I +1 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GUncertain significance
CAPN3
(Y69fs +4 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GPathogenic/Likely pathogenic
CAPN3
Single nucleotide variant
(synonymous variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GUncertain significance
CAPN3
(E206fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+2 more
GPathogenic/Likely pathogenic
CAPN3
(Y274* +1 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic
CAPN3, LOC126862115
(H151R)
Single nucleotide variant
(missense variant)
Familial idiopathic inflammatory myopathy
+2 more
GUncertain significance
CAPN3
(D241fs +4 more)
Indel
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
GPathogenic
CAPN3
(A214V +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GUncertain significance
CAPN3
(G171E)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GUncertain significance
CAPN3
(K220T +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GUncertain significance
CAPN3
(G448R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CAPN3
(G35A)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GUncertain significance
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+2 more
GBenign
CAPN3, LOC130056921
Single nucleotide variant
(synonymous variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GConflicting classifications of pathogenicity
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GConflicting classifications of pathogenicity
CAPN3
(P22fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic
CAPN3
(K598fs +1 more)
Deletion
(frameshift variant +2 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic
CAPN3
(H213R)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+2 more
GConflicting classifications of pathogenicity
CAPN3
(A242T +4 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GUncertain significance
CAPN3
(Y249*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GLikely pathogenic
CAPN3
(Q521* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic
CAPN3
(R445Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CAPN3
(Y353F +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GLikely pathogenic
CAPN3
(E54K +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+2 more
GConflicting classifications of pathogenicity
CAPN3
Single nucleotide variant
(5 prime UTR variant +1 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic
CAPN3
(E110fs +2 more)
Microsatellite
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
CAPN3
(D323E +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GUncertain significance
CAPN3
(V461F +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GLikely pathogenic
CAPN3
(A34fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic
CAPN3
(I36T +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GUncertain significance
CAPN3
(W209* +4 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic/Likely pathogenic
CAPN3
(Q633* +2 more)
Single nucleotide variant
(nonsense +1 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic/Likely pathogenic
CAPN3
Deletion
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CAPN3
Single nucleotide variant
(intron variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+2 more
GBenign/Likely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+2 more
GBenign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+2 more
GBenign
CAPN3
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GPathogenic
CAPN3
(R677P +4 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GConflicting classifications of pathogenicity
CAPN3
(K596R +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+2 more
GUncertain significance
CAPN3
(N117H)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+2 more
GUncertain significance
CAPN3
Single nucleotide variant
(splice donor variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+2 more
GConflicting classifications of pathogenicity
CAPN3
(E323* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
CAPN3
(Q619* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
CAPN3
(D591fs +2 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
CAPN3
(R18W)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+2 more
GUncertain significance
CAPN3
Single nucleotide variant
(stop lost)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GConflicting classifications of pathogenicity
CAPN3
(R18Q)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GUncertain significance
CAPN3
(V385fs +1 more)
Microsatellite
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+2 more
GPathogenic/Likely pathogenic
CAPN3
(G222R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CAPN3
(M283T)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+2 more
GPathogenic/Likely pathogenic
CAPN3
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GLikely pathogenic
CAPN3
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GPathogenic/Likely pathogenic
CAPN3
(S744G +4 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+3 more
GConflicting classifications of pathogenicity
CAPN3
(K101fs +2 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+2 more
GPathogenic
CAPN3, LOC130056921
(E467del +1 more)
Microsatellite
(inframe_deletion)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+3 more
GPathogenic/Likely pathogenic
CAPN3
(G329R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GConflicting classifications of pathogenicity
CAPN3
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+2 more
GPathogenic
CAPN3
(R448G +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GPathogenic/Likely pathogenic
CAPN3
(Y401C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+2 more
GConflicting classifications of pathogenicity
CAPN3
(L426fs +1 more)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GPathogenic/Likely pathogenic
CAPN3
(D452H +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+1 more
GConflicting classifications of pathogenicity
CAPN3
(G663del +3 more)
Deletion
(inframe_deletion +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GUncertain significance
CAPN3
(E553K +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
CAPN3
(D107fs +4 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GPathogenic
CAPN3
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
CAPN3
(H178fs +4 more)
Microsatellite
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GPathogenic
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