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Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHCR7
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DHCR7
(R469H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DHCR7
(Y462H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DHCR7
(R461C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DHCR7
(R457Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DHCR7
(G456S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DHCR7
(R450fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DHCR7
(E448K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DHCR7
Single nucleotide variant
(synonymous variant)
DHCR7-related condition
+4 more
GBenign/Likely benign
DHCR7
(R446Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
DHCR7
(G425S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign
DHCR7
(G424S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DHCR7
(G410S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
DHCR7
(V409I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DHCR7
(R404C)
Single nucleotide variant
(missense variant)
DHCR7-related condition
+3 more
GPathogenic
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
+2 more
GConflicting classifications of pathogenicity
DHCR7
(H390Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DHCR7
(G387R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
DHCR7-related condition
+4 more
GBenign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
+3 more
GConflicting classifications of pathogenicity
DHCR7
(A385T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
+2 more
GConflicting classifications of pathogenicity
DHCR7
(C380R)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
+2 more
GPathogenic/Likely pathogenic
DHCR7
(R367C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DHCR7
(T364M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DHCR7
(R363C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DHCR7
(R352Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
DHCR7
(R352W)
Single nucleotide variant
(missense variant)
DHCR7-related condition
+2 more
GPathogenic
DHCR7
(V338M)
Single nucleotide variant
(missense variant)
DHCR7-related condition
+4 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
+1 more
GConflicting classifications of pathogenicity
DHCR7
(V330M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(splice acceptor variant)
DHCR7-related condition
+5 more
GPathogenic/Likely pathogenic
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
+1 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DHCR7
(Y316C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DHCR7
(G303R)
Single nucleotide variant
(missense variant)
DHCR7-related condition
+4 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DHCR7
(H301R)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
+1 more
GPathogenic
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
+1 more
GConflicting classifications of pathogenicity
DHCR7
(E288K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DHCR7
(V281M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DHCR7
(R260G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
+1 more
GConflicting classifications of pathogenicity
DHCR7
(W248R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DHCR7
(R242C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
DHCR7
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DHCR7
(N240S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DHCR7
(E224K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DHCR7
(M220L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DHCR7
(M220L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR7
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
+1 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
+1 more
GConflicting classifications of pathogenicity
DHCR7
(V191I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DHCR7
(F174V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DHCR7
(A162V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DHCR7
(L157P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DHCR7
(T154R)
Single nucleotide variant
(missense variant)
DHCR7-related condition
+3 more
GPathogenic/Likely pathogenic
DHCR7
(W151*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+7 more
GPathogenic/Likely pathogenic
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
DHCR7
Deletion
(splice donor variant)
DHCR7-related condition
+2 more
GPathogenic/Likely pathogenic
DHCR7
(V134L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DHCR7, NADSYN1
(V126I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
+2 more
GConflicting classifications of pathogenicity
DHCR7
(Q98*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
DHCR7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DHCR7
(T93M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
DHCR7
(R81W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DHCR7
(G78E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
DHCR7
(V76I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DHCR7
(I75F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DHCR7
(G70S)
Single nucleotide variant
(missense variant)
DHCR7-related condition
+4 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
DHCR7
(A67T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
DHCR7-related condition
+2 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
DHCR7
(P51S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
DHCR7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
DHCR7
(I44T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
DHCR7-related condition
+4 more
GConflicting classifications of pathogenicity
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