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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOLR1
(M5V)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
+2 more
GUncertain significance
FOLR1
(L12fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FOLR1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
FOLR1
(Q72R)
Single nucleotide variant
(missense variant)
FOLR1-related condition
+3 more
GConflicting classifications of pathogenicity
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
+4 more
GConflicting classifications of pathogenicity
FOLR1
(R98W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
FOLR1
(C105F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
FOLR1
(Q118*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
FOLR1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FOLR1
Single nucleotide variant
(splice donor variant)
FOLR1-related condition
+3 more
GConflicting classifications of pathogenicity
FOLR1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FOLR1
(A170T)
Single nucleotide variant
(missense variant)
FOLR1-related condition
+4 more
GConflicting classifications of pathogenicity
FOLR1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
FOLR1
(A240V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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