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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPM3
Single nucleotide variant
(stop lost +1 more)
Congenital myopathy 4B, autosomal recessive
+1 more
GLikely pathogenic
TPM3
(R168H +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital myopathy with fiber type disproportion
+3 more
GPathogenic
TPM3
(R168C +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic
TPM3
(R168G +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital myopathy 4B, autosomal recessive
+2 more
GPathogenic/Likely pathogenic
TPM3
(Q32*)
Single nucleotide variant
(nonsense +1 more)
Congenital myopathy with fiber type disproportion
+1 more
GPathogenic
TPM3
(M9R)
Single nucleotide variant
(missense variant +1 more)
Congenital myopathy 4A, autosomal dominant
GPathogenic
TPM3
(A4V)
Single nucleotide variant
(missense variant +1 more)
Congenital myopathy 4B, autosomal recessive
+2 more
GUncertain significance
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