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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAC3
Single nucleotide variant
(splice acceptor variant)
Bailey-Bloch congenital myopathy
GPathogenic
STAC3
(K288* +2 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
STAC3
(W284S +2 more)
Single nucleotide variant
(missense variant +1 more)
Bailey-Bloch congenital myopathy
+1 more
GPathogenic/Likely pathogenic
STAC3
(L255fs +2 more)
Microsatellite
(frameshift variant +1 more)
Bailey-Bloch congenital myopathy
GPathogenic
STAC3
Single nucleotide variant
(intron variant)
Bailey-Bloch congenital myopathy
+1 more
GUncertain significance
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