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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXC1
Single nucleotide variant
(synonymous variant)
FOXC1-related condition
+2 more
GConflicting classifications of pathogenicity
FOXC1
Microsatellite
(inframe_deletion)
not specified
+3 more
GBenign/Likely benign
FOXC1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
FOXC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXC1, LOC129995601
(T88I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXC1, LOC129995601
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXC1, LOC129995601
(K98fs)
Duplication
(frameshift variant)
not provided
GPathogenic
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
+2 more
GUncertain significance
FOXC1
(L130F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXC1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
+2 more
GConflicting classifications of pathogenicity
FOXC1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
FOXC1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FOXC1
Deletion
(inframe_deletion)
not provided
+2 more
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
+1 more
GConflicting classifications of pathogenicity
FOXC1
(A296G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXC1
(P297S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
+1 more
GBenign
FOXC1
(S339P)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+2 more
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
FOXC1
(P355L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FOXC1
Microsatellite
(inframe_insertion)
not specified
+2 more
GBenign
FOXC1
Duplication
(inframe_insertion)
not specified
GBenign
FOXC1
Microsatellite
(inframe_insertion)
Anterior segment dysgenesis 3
+2 more
GBenign
FOXC1
Microsatellite
(inframe_deletion)
not specified
+3 more
GBenign/Likely benign
FOXC1
(G456del)
Microsatellite
(inframe_deletion)
not provided
+2 more
GBenign/Likely benign
FOXC1
(G450A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXC1
Microsatellite
(inframe_deletion)
Axenfeld-Rieger syndrome type 3
+1 more
GConflicting classifications of pathogenicity
FOXC1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
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