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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCARB2
(G462E +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
SCARB2
(M443T +1 more)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy
+2 more
GUncertain significance
SCARB2
(R424Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SCARB2
(T421M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SCARB2
(A379V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SCARB2
(I328V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCARB2
(G310S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCARB2
(H171P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SCARB2
(T170N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SCARB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
SCARB2
(V149M)
Single nucleotide variant
(missense variant +1 more)
SCARB2-related condition
+5 more
GConflicting classifications of pathogenicity
SCARB2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SCARB2
(P128A)
Single nucleotide variant
(missense variant +1 more)
SCARB2-related condition
+6 more
GConflicting classifications of pathogenicity
SCARB2
(D127Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
SCARB2
(E93K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
SCARB2
Single nucleotide variant
(synonymous variant)
SCARB2-related condition
+5 more
GBenign/Likely benign
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