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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHCR7
(E448K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DHCR7
(G410S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
DHCR7
(R404C)
Single nucleotide variant
(missense variant)
DHCR7-related condition
+3 more
GPathogenic
DHCR7
(R352W)
Single nucleotide variant
(missense variant)
DHCR7-related condition
+2 more
GPathogenic
DHCR7
(V326L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DHCR7
Single nucleotide variant
(splice acceptor variant)
DHCR7-related condition
+5 more
GPathogenic/Likely pathogenic
DHCR7
(F302L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
DHCR7
Single nucleotide variant
(splice acceptor variant)
Smith-Lemli-Opitz syndrome
GPathogenic
DHCR7
(R242H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DHCR7
(R242C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
DHCR7
(S169L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DHCR7
(W151*)
Single nucleotide variant
(nonsense)
not provided
+7 more
GPathogenic/Likely pathogenic
DHCR7
(T93M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
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