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Links from MedGen

Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXC1
(Y67C)
Single nucleotide variant
(missense variant)
Anterior segment dysgenesis 3
GUncertain significance
FOXC1, LOC129995601
(Y81del)
Deletion
(inframe_deletion)
Anterior segment dysgenesis 3
GUncertain significance
FOXC1
(N133fs)
Deletion
(frameshift variant)
Anterior segment dysgenesis 3
GPathogenic
FOXC1
(S445R)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+1 more
GBenign/Likely benign
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
+1 more
GLikely benign
FOXC1
Duplication
(inframe_insertion)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(A423T)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(G270R)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
Microsatellite
(inframe_deletion)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(P416S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(A490V)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(S370T)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+2 more
GUncertain significance
FOXC1
(F533fs)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(A296S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
Microsatellite
(inframe_insertion)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(E185del)
Microsatellite
(inframe_deletion)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(S443del)
Microsatellite
(inframe_deletion)
Anterior segment dysgenesis 3
+1 more
GUncertain significance
FOXC1
(G418V)
Single nucleotide variant
(missense variant)
Anterior segment dysgenesis 3
+1 more
GUncertain significance
FOXC1
(S290F)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+2 more
GUncertain significance
FOXC1
Deletion
(inframe_deletion)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(W152R)
Single nucleotide variant
(missense variant)
Anterior segment dysgenesis 3
GUncertain significance
FOXC1
Duplication
(inframe_insertion)
Anterior segment dysgenesis 3
GUncertain significance
FOXC1
(H446R)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(P140S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+2 more
GUncertain significance
FOXC1
(P534S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+2 more
GUncertain significance
FOXC1
(G386fs)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 3
+1 more
GLikely pathogenic
FOXC1, FOXF2
+2 more
Copy number gain
Anterior segment dysgenesis 3
GPathogenic
FOXC1
(A30V)
Single nucleotide variant
(missense variant)
Anterior segment dysgenesis 3
GUncertain significance
FOXC1
Microsatellite
(inframe_deletion)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(Q457R)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(S339P)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+2 more
GUncertain significance
FOXC1
(D117fs)
Deletion
(frameshift variant)
Anterior segment dysgenesis 3
GPathogenic
FOXC1
(D178H)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+2 more
GUncertain significance
FOXC1
(E163*)
Single nucleotide variant
(nonsense)
Anterior segment dysgenesis 3
GPathogenic
FOXC1
Deletion
(inframe_deletion)
not provided
+2 more
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
+2 more
GUncertain significance
FOXC1
(P355L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
FOXC1, LOC129995600
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
FOXC1
Microsatellite
(inframe_insertion)
Anterior segment dysgenesis 3
+2 more
GBenign
FOXC1
(P297S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
FOXC1, LOC129995601
(I87M)
Single nucleotide variant
(missense variant)
Anterior segment dysgenesis 3
GPathogenic
FOXC1
Insertion
Anterior segment dysgenesis 3
GPathogenic
FOXC1
Duplication
Anterior segment dysgenesis 3
GPathogenic
FOXC1
(I126M)
Single nucleotide variant
(missense variant)
Anterior segment dysgenesis 3
GPathogenic
FOXC1
(S131L)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(H52fs)
Deletion
(frameshift variant)
Anterior segment dysgenesis 3
GPathogenic
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