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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTG2
(P39L)
Single nucleotide variant
(missense variant)
Visceral myopathy 1
GPathogenic
ACTG2
(R63Q)
Single nucleotide variant
(missense variant +1 more)
Visceral myopathy 1
GPathogenic
ACTG2
Single nucleotide variant
(intron variant)
Visceral myopathy 1
GUncertain significance
ACTG2
(R211Q +1 more)
Single nucleotide variant
(missense variant)
ACTG2-related condition
+2 more
GConflicting classifications of pathogenicity
MYLK
Single nucleotide variant
(intron variant)
Visceral myopathy 1
GPathogenic
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