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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTG2
(R40C)
Single nucleotide variant
(missense variant)
ACTG2-related condition
+2 more
GPathogenic/Likely pathogenic
ACTG2
(R40H)
Single nucleotide variant
(missense variant)
Visceral myopathy 1
+3 more
GPathogenic/Likely pathogenic
ACTG2
(R63G)
Single nucleotide variant
(missense variant +1 more)
Visceral myopathy 1
GPathogenic
ACTG2
(R178C +1 more)
Single nucleotide variant
(missense variant)
ACTG2-related condition
+3 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
(R211Q +1 more)
Single nucleotide variant
(missense variant)
ACTG2-related condition
+2 more
GConflicting classifications of pathogenicity
ACTG2
(R257C +1 more)
Single nucleotide variant
(missense variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
+4 more
GPathogenic
ACTG2
(R257H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
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