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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAPN1
Deletion
Autosomal recessive spastic paraplegia type 76
GPathogenic
CAPN1
(E169* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive spastic paraplegia type 76
GLikely pathogenic
CAPN1
(V215M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spastic paraplegia type 76
GUncertain significance
CAPN1
(V263M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spastic paraplegia type 76
GUncertain significance
CAPN1
(T250M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CAPN1
(F61fs)
Insertion
(frameshift variant +1 more)
Autosomal recessive spastic paraplegia type 76
GPathogenic
CAPN1
(G74D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CAPN1
Single nucleotide variant
(splice donor variant)
Autosomal recessive spastic paraplegia type 76
+1 more
GPathogenic
CAPN1
Deletion
(inframe_deletion +1 more)
Autosomal recessive spastic paraplegia type 76
GUncertain significance
CAPN1
(S337*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive spastic paraplegia type 76
GLikely pathogenic
CAPN1, LOC126861236
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 76
+1 more
GBenign
CAPN1, LOC126861236
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 76
+1 more
GBenign
CAPN1, LOC126861236
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 76
+1 more
GBenign
CAPN1
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 76
+1 more
GBenign
CAPN1
Deletion
(intron variant)
Autosomal recessive spastic paraplegia type 76
GBenign
CAPN1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive spastic paraplegia type 76
+1 more
GBenign
CAPN1
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 76
+1 more
GBenign
CAPN1
Single nucleotide variant
(splice donor variant)
Autosomal recessive spastic paraplegia type 76
GLikely pathogenic
CAPN1, LOC126861236
(E657*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive spastic paraplegia type 76
+1 more
GPathogenic/Likely pathogenic
CAPN1
(L566fs)
Duplication
(frameshift variant +1 more)
Autosomal recessive spastic paraplegia type 76
GPathogenic
CAPN1
(R473fs)
Microsatellite
(frameshift variant +1 more)
Autosomal recessive spastic paraplegia type 76
GPathogenic
CAPN1
(E447D)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spastic paraplegia type 76
GPathogenic
CAPN1
Single nucleotide variant
(splice donor variant)
Autosomal recessive spastic paraplegia type 76
GPathogenic
CAPN1
(R377fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive spastic paraplegia type 76
+1 more
GPathogenic/Likely pathogenic
CAPN1
(W335*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive spastic paraplegia type 76
+1 more
GPathogenic/Likely pathogenic
CAPN1
(G208D)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spastic paraplegia type 76
GPathogenic
CAPN1
(W85*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive spastic paraplegia type 76
GPathogenic
CAPN1
(R339*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive spastic paraplegia type 76
GLikely pathogenic
CAPN1
(W392*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive spastic paraplegia type 76
+1 more
GPathogenic
CAPN1
(G208fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
CAPN1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive spastic paraplegia type 76
GPathogenic
CAPN1
(R481Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spastic paraplegia type 76
GUncertain significance
CAPN1
(R385*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive spastic paraplegia type 76
+1 more
GPathogenic/Likely pathogenic
CAPN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CAPN1
(P136fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive spastic paraplegia type 76
GPathogenic
CAPN1
(Q527*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive spastic paraplegia type 76
GPathogenic
CAPN1
(R295P)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spastic paraplegia type 76
GPathogenic
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