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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHCR7
Single nucleotide variant
(synonymous variant)
DHCR7-related disorder
+4 more
GBenign/Likely benign
DHCR7
Single nucleotide variant
(splice acceptor variant)
Global developmental delay
+5 more
GPathogenic/Likely pathogenic
DHCR7
(W151*)
Single nucleotide variant
(nonsense)
not provided
+7 more
GPathogenic/Likely pathogenic
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
+2 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
DHCR7, NADSYN1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
DHCR7
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
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