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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JAG2
(G732R +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 27
GUncertain significance
JAG2
(R674C +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 27
GUncertain significance
JAG2
(N358I)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 27
GUncertain significance
JAG2
(R165*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 27
GLikely pathogenic
JAG2
(T95A)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 27
GUncertain significance
JAG2
(F939S +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 27
GUncertain significance
JAG2
(R787C +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 27
GUncertain significance
JAG2
(G281C)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 27
GLikely pathogenic
JAG2
(F407fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 27
GPathogenic
JAG2
(P682S +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 27
GUncertain significance
JAG2
(C74S)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 27
GUncertain significance
JAG2
(G839R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
JAG2
(E164K)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 27
GUncertain significance
JAG2
(A243D)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 27
GUncertain significance
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