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Items: 1 to 100 of 157

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(D508N)
Single nucleotide variant
(missense variant)
Desmosterolosis
+2 more
GBenign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(G487D)
Single nucleotide variant
(missense variant)
Desmosterolosis
+2 more
GConflicting classifications of pathogenicity
DHCR24
(F485S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
(M484I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
(R478Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DHCR24
Microsatellite
(intron variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(R462H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(L457M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DHCR24
(R444H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DHCR24
(R444C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DHCR24
(P443L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
(I437V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(P421L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(V389M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(P344H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DHCR24
(I342V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DHCR24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DHCR24
Indel
(intron variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DHCR24
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(R333C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DHCR24
(T332M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
(R330C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
(H329Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
(P323T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DHCR24
(E287K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(V283F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(L271I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DHCR24
(R261W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DHCR24
(I251V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(G247D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
(R246Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(R246W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
(P244L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DHCR24
(E243K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(F242L)
Single nucleotide variant
(missense variant)
Desmosterolosis
+1 more
GConflicting classifications of pathogenicity
DHCR24
(R241H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(R230L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
(R230H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
(R230C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DHCR24
(A227T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
(V225L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHCR24
Single nucleotide variant
(synonymous variant)
Desmosterolosis
+1 more
GBenign/Likely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHCR24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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