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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTL6A
(G65S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACTL6A
(M50T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACTL6A
(H105R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACTL6A
(T129A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACTL6A
(F141L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACTL6A
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
ACTL6A
(I160V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACTL6A
(V218I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ACTL6A
(H209Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACTL6A
(L267F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACTL6A
(G265R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACTL6A
(S326G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ACTL6A
(R348S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACTL6A
(S392G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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