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Items: 1 to 100 of 615

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC02522, LINC02525
+823 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+258 more
Copy number loss
See cases
GPathogenic
BPHL, C6orf201
+279 more
Copy number gain
See cases
GPathogenic
LOC132089500, LOC132090749
+641 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+312 more
Copy number loss
See cases
GPathogenic
BPHL, C6orf201
+307 more
Copy number loss
See cases
GPathogenic
LOC129995684, LOC129995685
+307 more
Copy number gain
See cases
GLikely pathogenic
LOC129995551, LOC129995552
+287 more
Copy number loss
See cases
GPathogenic
LOC129995714, LOC129995715
+777 more
Copy number gain
See cases
GPathogenic
LOC129995520, LOC129995521
+610 more
Copy number loss
See cases
GPathogenic
LOC121106426, LOC121113497
+557 more
Copy number gain
See cases
GLikely pathogenic
CYP39A1, DAAM2
+2577 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+255 more
Copy number gain
See cases
GUncertain significance
LOC121740636, LOC121740637
+255 more
Copy number loss
See cases
GPathogenic
LOC123575649, LOC123575650
+345 more
Copy number loss
See cases
GPathogenic
LINC02521, LINC02522
+508 more
Copy number gain
See cases
GLikely pathogenic
BPHL, DUSP22
+211 more
Copy number loss
See cases
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+435 more
Copy number gain
See cases
GPathogenic
DUSP22, EXOC2
+118 more
Copy number gain
See cases
GPathogenic
DUSP22, EXOC2
+127 more
Copy number loss
See cases
GPathogenic
LOC129389427, LOC129389428
+301 more
Copy number loss
See cases
GPathogenic
LOC126859547, LOC126859548
+305 more
Copy number loss
See cases
GPathogenic
LOC129995574, LOC129995575
+116 more
Copy number gain
See cases
GPathogenic
LOC129995778, LOC129995779
+571 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+300 more
Copy number loss
See cases
GPathogenic
LOC129995595, LOC129995596
+310 more
Copy number loss
See cases
GPathogenic
LOC126859546, LOC126859547
+431 more
Copy number loss
See cases
GPathogenic
DUSP22, EXOC2
+108 more
Copy number loss
See cases
GPathogenic
LOC129995630, LOC129995631
+536 more
Copy number gain
See cases
GPathogenic
FOXC1, FOXCUT
+13 more
Copy number gain
See cases
GUncertain significance
FOXC1, FOXCUT
+19 more
Copy number loss
See cases
GPathogenic
FOXC1, FOXCUT
+24 more
Copy number loss
See cases
GPathogenic
FOXC1, FOXCUT
+24 more
Copy number gain
See cases
GUncertain significance
FOXC1, FOXCUT
+12 more
Copy number loss
See cases
GPathogenic
FOXC1, FOXCUT
+7 more
Copy number loss
See cases
GPathogenic
FOXC1, LOC129995600
Deletion
(5 prime UTR variant)
not provided
GBenign
FOXC1, LOC129995600
Deletion
(5 prime UTR variant)
not provided
GBenign
FOXC1, LOC129995600
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
FOXC1, LOC129995600
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
FOXC1, LOC129995600
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
FOXC1, LOC129995600
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
FOXC1, LOC129995601
Deletion
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1, LOC129995601
Deletion
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1, LOC129995601
(M1fs)
Deletion
(frameshift variant +1 more)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(Q2*)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 3
GLikely pathogenic
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
(S8fs)
Duplication
(frameshift variant)
not provided
GPathogenic
FOXC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(N11S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(S12T)
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
(L13V)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(L13R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(G14E)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(Y18fs)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(L19F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXC1
(G20S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(G21C)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(Q23fs)
Duplication
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(Q23*)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(A28fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FOXC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXC1
Microsatellite
(inframe_deletion)
not specified
+2 more
GBenign/Likely benign
FOXC1
(A31fs)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(A30V)
Single nucleotide variant
(missense variant)
Anterior segment dysgenesis 3
GUncertain significance
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(G34fs)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(A33V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXC1
(G35fs)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(G34fs)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(G35S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(G35fs)
Indel
(frameshift variant)
FOXC1-related condition
GLikely pathogenic
FOXC1
(G36fs)
Insertion
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(G36D)
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
(A39fs)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
FOXC1
(A39S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(P41R)
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
(V46fs)
Duplication
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(S45N)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
GUncertain significance
FOXC1
(Y47*)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(S48*)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXC1
(P50S)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 3
+1 more
GUncertain significance
FOXC1
(H52fs)
Deletion
(frameshift variant)
Anterior segment dysgenesis 3
GPathogenic
FOXC1
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 3
GLikely benign
FOXC1
(E54fs)
Deletion
(frameshift variant)
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
GPathogenic
FOXC1
(Q55*)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
(P57S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FOXC1
(G58fs)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
FOXC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXC1
(M60fs)
Duplication
(frameshift variant)
Axenfeld-Rieger syndrome type 3
GPathogenic
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