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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAX7
(R245C +1 more)
Single nucleotide variant
(missense variant)
Myopathy, congenital, progressive, with scoliosis
GUncertain significance
PAX7
Single nucleotide variant
(synonymous variant)
Myopathy, congenital, progressive, with scoliosis
GBenign
PAX7
(I133T)
Single nucleotide variant
(missense variant)
Myopathy, congenital, progressive, with scoliosis
GUncertain significance
PAX7
(V498G +1 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, congenital, progressive, with scoliosis
GUncertain significance
PAX7
(R213H +1 more)
Single nucleotide variant
(missense variant)
Myopathy, congenital, progressive, with scoliosis
GUncertain significance
PAX7
(R56C)
Single nucleotide variant
(missense variant)
Myopathy, congenital, progressive, with scoliosis
GPathogenic
PAX7
(R74*)
Single nucleotide variant
(nonsense)
Myopathy, congenital, progressive, with scoliosis
+1 more
GLikely pathogenic
PAX7
Single nucleotide variant
(splice acceptor variant)
Myopathy, congenital, progressive, with scoliosis
GPathogenic
PAX7
(R145*)
Single nucleotide variant
(nonsense)
Myopathy, congenital, progressive, with scoliosis
GPathogenic
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