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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHCR24
(D508N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
DHCR24
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
DHCR24
(P244L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DHCR24
(V193L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHCR24
(E191K)
Single nucleotide variant
(missense variant)
Desmosterolosis
GLikely pathogenic
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