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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FARSB
(M576L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(V558I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
FARSB
(P526A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(P525L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(H496R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(D488E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(T487A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(N486K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(R466L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(I462V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(Q390E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(N376S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(E350A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(D343V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FARSB
(K329R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
FARSB
(D312N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(V284I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(I244V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
FARSB
(V230I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FARSB
(L219P)
Single nucleotide variant
(missense variant +1 more)
FARSB-related disorder
+2 more
GUncertain significance
FARSB
(I213V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(Y210C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(Y192H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FARSB
(E191D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(A158V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(R135L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FARSB
(R127C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
FARSB
(R118H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(Q106R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FARSB
(R98W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FARSB
(P94S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
FARSB
(E89Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(V67I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(I65F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(G50R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(F29Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
FARSB
(R17C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
FARSB
(F12S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(P2L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FARSB
(P2S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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