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Links from MedGen

Items: 1 to 100 of 209

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOLR1
Deletion
Cerebral folate transport deficiency
GPathogenic
FOLR1
Deletion
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(R61fs)
Deletion
(frameshift variant)
Cerebral folate transport deficiency
GPathogenic
FOLR1
(G159A)
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
(intron 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
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
+1 more
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
(E50K)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Duplication
Cerebral folate transport deficiency
GUncertain significance
CLPB, FOLR1
+3 more
Deletion
Cerebral folate transport deficiency
GPathogenic
FOLR1
(M38V)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(P216S)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
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
(C169Y)
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
(L253P)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
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
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(Q122H)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(W239R)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(E127K)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(C89R)
Indel
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(V18A)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(K168M)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(P111S)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(Y107*)
Single nucleotide variant
(nonsense)
Cerebral folate transport deficiency
GPathogenic
FOLR1
(C135G)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(K97N)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(W86G)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
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
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(A27S)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(A231T)
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
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Deletion
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(D215N)
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)
not provided
+2 more
GUncertain significance
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
+1 more
GLikely benign
FOLR1
(R125C)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
+1 more
GPathogenic/Likely pathogenic
FOLR1
(R208fs)
Indel
(frameshift variant)
Cerebral folate transport deficiency
GPathogenic
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
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
Single nucleotide variant
(intron 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
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(P115S)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Single nucleotide variant
(intron variant)
Cerebral folate transport deficiency
GLikely benign
FOLR1
(E55K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FOLR1
(R125H)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(T104N)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(E127G)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Indel
(intron variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(Y229H)
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
(T31S)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(N112fs)
Duplication
(frameshift variant)
Cerebral folate transport deficiency
GPathogenic
FOLR1
Deletion
Cerebral folate transport deficiency
GPathogenic
FOLR1
(R4W)
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
(N201Y)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
+1 more
GUncertain significance
FOLR1
(Y202C)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(G20E)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(K158N)
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
(E224K)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(R128W)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
Duplication
(nonsense +1 more)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(C146Y)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(N222S)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(E140V)
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
Single nucleotide variant
(synonymous variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(Q3R)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
GUncertain significance
FOLR1
(W86*)
Single nucleotide variant
(nonsense)
Cerebral folate transport deficiency
GPathogenic
FOLR1
(N131D)
Single nucleotide variant
(missense variant)
Cerebral folate transport deficiency
+1 more
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
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