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Links from MedGen

Items: 1 to 100 of 402

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXC1
(P218S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1, LOC129995601
(M109V)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(A495T)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(A244T)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(S266fs)
Duplication
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(G35fs)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(C135S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(G165R)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(A61V)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(G319R)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(A465G)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(S359F)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(Y403H)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(Y393*)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(R188G)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(A381fs)
Duplication
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1, LOC129995601
(P95L)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1, LOC129995601
(Y83*)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(A336V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FOXC1
(C365fs)
Duplication
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GLikely pathogenic
FOXC1, LOC129995601
(Y105*)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 3
GLikely pathogenic
FOXC1
(A31fs)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
EXOC2, FOXC1
+4 more
Copy number loss
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(G499A)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Deletion
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
Deletion
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
Deletion
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(G211D)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1, LOC129995601
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(A245T)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(E193K)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(T228I)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(A342G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXC1
(A179V)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(P260A)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GBenign
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
Duplication
(inframe_insertion)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(S272R)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(S262N)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1, LOC129995601
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(A243S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1, LOC129995601
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(R62H)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(S366I)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Duplication
(inframe_insertion)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(K186E)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(L485S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(G20S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(T392I)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(Q467E)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(P50S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(G421D)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(D261G)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
Deletion
(inframe_deletion)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(A326S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1, LOC129995601
(I99M)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(N312D)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Deletion
(inframe_deletion)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(G544E)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(S538P)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1, LOC129995601
(G103R)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(A299T)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(Q208R)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(A387P)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(P242L)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(D187N)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(G14E)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(L412W)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(P355S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(Q55*)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(K177del)
Microsatellite
(inframe_deletion)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(P364L)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(L332P)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(A383G)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Microsatellite
(inframe_insertion)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
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