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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAR
(L243F)
Single nucleotide variant
(missense variant)
Congenital lipoid adrenal hyperplasia due to STAR deficency
GUncertain significance
STAR
(G221S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
STAR
Single nucleotide variant
(splice donor variant)
Congenital lipoid adrenal hyperplasia due to STAR deficency
GLikely pathogenic
STAR
(R188C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
STAR
(R182H)
Single nucleotide variant
(missense variant)
Congenital lipoid adrenal hyperplasia due to STAR deficency
+1 more
GPathogenic/Likely pathogenic
STAR
(Y68fs)
Microsatellite
(frameshift variant)
Congenital lipoid adrenal hyperplasia due to STAR deficency
+1 more
GPathogenic
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