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Items: 1 to 100 of 274

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTE1P, ANAPC15
+67 more
Copy number gain
See cases
GUncertain significance
LOC130006424, LOC130006425
+305 more
Copy number loss
See cases
GPathogenic
AAMDC, ACER3
+355 more
Copy number loss
See cases
GPathogenic
FOLR1
Single nucleotide variant
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
FOLR1
Single nucleotide variant
(5 prime UTR variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
FOLR1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
FOLR1
Single nucleotide variant
(intron variant)
not provided
GBenign
FOLR1
Single nucleotide variant
(intron variant)
not provided
GBenign
FOLR1
Single nucleotide variant
(intron variant)
not provided
GBenign
FOLR1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
FOLR1
Single nucleotide variant
(intron variant)
not provided
GBenign
FOLR1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FOLR1
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
FOLR1
(Q3R)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
FOLR1
(R4W)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(R4Q)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
+2 more
GConflicting classifications of pathogenicity
FOLR1
(M5V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FOLR1
(T6I)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(Q8K)
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)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(W15C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
FOLR1
(V18A)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
+1 more
GConflicting classifications of pathogenicity
FOLR1
(G20E)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(G20A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FOLR1
(A22V)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
+1 more
GUncertain significance
FOLR1
(Q23R)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(T24I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FOLR1
(A27S)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(A27G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
FOLR1
(T31S)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(T31I)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(N35D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
FOLR1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
FOLR1
(M38V)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
FOLR1
(A40T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FOLR1
(K41N)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(H42N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOLR1
Duplication
(inframe_insertion)
Cerebral folate transport deficiency
GPathogenic
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(P47A)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(E50K)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(K52N)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
+3 more
GConflicting classifications of pathogenicity
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(E55K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Deletion
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
not provided
GBenign
FOLR1
Single nucleotide variant
(intron variant)
not provided
GBenign
FOLR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
not provided
GBenign
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Deletion
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(R58Q)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(P59H)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(P59R)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(R61fs)
Deletion
(frameshift variant)
Cerebral folate transport deficiency
GPathogenic
FOLR1
(A64S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
FOLR1
(C66Y)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GPathogenic
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(Q72R)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
+2 more
GConflicting classifications of pathogenicity
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(H75Y)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(H75R)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(K76fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FOLR1
(V78I)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
FOLR1
(L81R)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(Y82H)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(W86R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOLR1
(W86G)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
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