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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SELENON
(G315S +1 more)
Single nucleotide variant
(missense variant)
SEPN1-Related Disorders
+4 more
GPathogenic/Likely pathogenic
TPM3
Single nucleotide variant
(stop lost +1 more)
Congenital myopathy 4B, autosomal recessive
+1 more
GLikely pathogenic
TPM3
(R208G +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
Gnot provided
TPM3
(E204K +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
Gnot provided
TPM3
(K132E +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
Gnot provided
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
(L100M +1 more)
Single nucleotide variant
(missense variant +3 more)
Congenital myopathy 4A, autosomal dominant
GPathogenic
TPM3
(R54P +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
Gnot provided
TPM3
(Q32*)
Single nucleotide variant
(nonsense +1 more)
Congenital myopathy with fiber type disproportion
+1 more
GPathogenic
TPM3
(A4V)
Single nucleotide variant
(missense variant +1 more)
Congenital myopathy 4B, autosomal recessive
+2 more
GUncertain significance
ACTA1
(P334S)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GLikely pathogenic
ACTA1
(D294V)
Single nucleotide variant
(missense variant)
Congenital myopathy 2c, severe infantile, autosomal dominant
+1 more
GPathogenic
ACTA1
(E243K)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(L223P)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
+1 more
GConflicting classifications of pathogenicity
ACTA1
(E207D)
Single nucleotide variant
(missense variant)
Congenital myopathy with fiber type disproportion
Gnot provided
ACTA1
(G48D)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GPathogenic
ACTA1
(E6K)
Single nucleotide variant
(missense variant)
Progressive scapulohumeroperoneal distal myopathy
+1 more
GPathogenic/Likely pathogenic
MYH7
Single nucleotide variant
(stop lost)
Hypertrophic cardiomyopathy
GUncertain significance
LOC126861897, MHRT
+1 more
(K1729del)
Microsatellite
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+2 more
GPathogenic
RYR1
(Y246*)
Single nucleotide variant
(nonsense)
Congenital myopathy with fiber type disproportion
Gnot provided
RYR1
(M402T)
Single nucleotide variant
(missense variant)
Central core myopathy
GPathogenic
LOC129391106, RYR1
(M485V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(A1577T)
Single nucleotide variant
(missense variant)
Congenital multicore myopathy with external ophthalmoplegia
+6 more
GUncertain significance
RYR1
(S1778*)
Single nucleotide variant
(nonsense)
RYR1-Related Disorders
GPathogenic
RYR1
(H2035L)
Single nucleotide variant
(missense variant)
Congenital myopathy with fiber type disproportion
Gnot provided
RYR1
(R2508C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GLikely pathogenic
RYR1
Single nucleotide variant
(splice donor variant)
Congenital myopathy with fiber type disproportion
Gnot provided
RYR1
(N3326K)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
GLikely pathogenic
RYR1
(C3402G)
Single nucleotide variant
(missense variant)
RYR1-related condition
+4 more
GConflicting classifications of pathogenicity
RYR1
(E4494* +1 more)
Single nucleotide variant
(nonsense)
Congenital myopathy with fiber type disproportion
Gnot provided
RYR1
(G4638D +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(T4709M +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(R4893W +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
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