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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXC2
(P309fs)
Duplication
(frameshift variant)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2
(K177del)
Deletion
(inframe_deletion)
Distichiasis-lymphedema syndrome
GUncertain significance
FOXC2
(A422V)
Single nucleotide variant
(missense variant)
Distichiasis-lymphedema syndrome
GUncertain significance
FOXC2
(Q407fs)
Deletion
(frameshift variant)
Distichiasis-lymphedema syndrome
GLikely pathogenic
FOXC2
Microsatellite
(inframe_insertion)
not provided
+1 more
GUncertain significance
FOXC2, FOXC2-AS1
(Q100*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2
Deletion
(inframe_deletion)
not provided
+1 more
GUncertain significance
FOXC2
(A325fs)
Deletion
(frameshift variant)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2
(A261D)
Single nucleotide variant
(missense variant)
Distichiasis-lymphedema syndrome
GUncertain significance
FOXC2
(G254R)
Single nucleotide variant
(missense variant)
Distichiasis-lymphedema syndrome
GUncertain significance
FOXC2
(Q238fs)
Duplication
(frameshift variant)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2
(P188fs)
Deletion
(frameshift variant)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2, FOXC2-AS1
(W116*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Distichiasis-lymphedema syndrome
GLikely pathogenic
FOXC2
(N455S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
FOXC2
(D202A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FOXC2
(Y313*)
Single nucleotide variant
(nonsense)
Distichiasis-lymphedema syndrome
GLikely pathogenic
FOXC2, FOXC2-AS1
Deletion
Distichiasis-lymphedema syndrome
GLikely pathogenic
FOXC2
(Q420*)
Single nucleotide variant
(nonsense)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2
(P402L)
Single nucleotide variant
(missense variant)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2, FOXC2-AS1
(Y41F)
Single nucleotide variant
(missense variant)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2, FOXC2-AS1
(R121C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
FOXC2
(Q444R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXC2, FOXC2-AS1
(R121H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2, FOXC2-AS1
(S125L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2
Indel
(inframe_indel)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2
(Y305fs)
Deletion
(frameshift variant)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2
(K170fs)
Deletion
(frameshift variant)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2
(T197fs)
Duplication
(frameshift variant)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2, FOXC2-AS1
(K68fs)
Duplication
(frameshift variant)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2, FOXC2-AS1
(V71fs)
Duplication
(frameshift variant)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2
(Q444fs)
Deletion
(frameshift variant)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2, FOXC2-AS1
(G97fs)
Deletion
(non-coding transcript variant +1 more)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2
(P365fs)
Duplication
(frameshift variant)
Distichiasis-lymphedema syndrome
GPathogenic
FOXC2, FOXC2-AS1
(Y99*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Distichiasis-lymphedema syndrome
GLikely pathogenic
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