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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTG2
Single nucleotide variant
(intron variant)
Visceral myopathy 1
+2 more
GBenign
ACTG2
Single nucleotide variant
(5 prime UTR variant)
Visceral myopathy 1
+2 more
GBenign
ACTG2
(R40C)
Single nucleotide variant
(missense variant)
Visceral myopathy 1
+1 more
GPathogenic/Likely pathogenic
ACTG2
(R40H)
Single nucleotide variant
(missense variant)
Visceral myopathy 1
+3 more
GPathogenic/Likely pathogenic
ACTG2
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
ACTG2
(V46A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACTG2
(E73Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACTG2
(N116S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ACTG2
(L100F +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ACTG2
(I109N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTG2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ACTG2
(R178C +1 more)
Single nucleotide variant
(missense variant)
Visceral myopathy 1
+2 more
GPathogenic
ACTG2
(R178H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
ACTG2
(R178L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ACTG2
(Y189H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTG2
(T195I +1 more)
Single nucleotide variant
(missense variant)
ACTG2-related disorder
+1 more
GConflicting classifications of pathogenicity
ACTG2
(E196D +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ACTG2
(A162V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTG2
(V167A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTG2
(R211Q +1 more)
Single nucleotide variant
(missense variant)
Visceral myopathy 1
+1 more
GPathogenic/Likely pathogenic
ACTG2
(I170V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTG2
(R257C +1 more)
Single nucleotide variant
(missense variant)
Visceral myopathy 1
+4 more
GPathogenic
ACTG2
(R257H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
ACTG2
(P222S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTG2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ACTG2
(E228K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTG2
(S345C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTG2
(I303T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTG2
(M313I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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