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Links from MedGen

Items: 1 to 100 of 1524

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAPN3
(I47del)
Microsatellite
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely pathogenic
CAPN3
Deletion
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
Deletion
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
(D120N)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
(C327G +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Single nucleotide variant
(intron 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
(intron 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
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron 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, LOC130056921
(Q372* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron 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
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron 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
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(H407R +2 more)
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
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(G135R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
Single nucleotide variant
(intron 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, LOC126862115
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron 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
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3, LOC126862115
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Deletion
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(Q568* +3 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
Deletion
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron 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
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Deletion
(inframe_deletion)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GPathogenic
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Deletion
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3, LOC126862115
(I156M +1 more)
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
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Duplication
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3, LOC126862115
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3, LOC130056921
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3, LOC126862115
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
(P271R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely pathogenic
CAPN3
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Deletion
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely pathogenic
CAPN3
Single nucleotide variant
(intron 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
(I112V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GUncertain significance
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron 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
Deletion
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron 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
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
GLikely benign
CAPN3
Single nucleotide variant
(intron 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
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