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Items: 1 to 100 of 2284

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121466733, LOC121468000
+2048 more
Copy number loss
See cases
GPathogenic
LOC130010147, LOC130010148
+2049 more
Copy number gain
See cases
GPathogenic
LOC130009360, LOC130009361
+2047 more
Copy number gain
See cases
GPathogenic
LOC130009909, LOC130009910
+2044 more
Copy number gain
See cases
GPathogenic
LINC00333, LINC00343
+2045 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2040 more
Copy number gain
See cases
GPathogenic
LOC121838573, LOC121838574
+2028 more
Copy number gain
See cases
GPathogenic
URAD, USP12
+2024 more
Copy number gain
See cases
GPathogenic
LINC00462, LINC00463
+2021 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
SIAH3, SLAIN1
+1557 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+1404 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+1288 more
Copy number gain
See cases
GPathogenic
LINC00550, LINC00552
+1268 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+706 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+705 more
Copy number gain
See cases
GPathogenic
LOC132090867, MBNL2
+663 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+650 more
Copy number loss
See cases
GPathogenic
LOC130009970, LOC130009971
+638 more
Copy number gain
See cases
GPathogenic
LOC130010039, LOC130010040
+369 more
Copy number gain
See cases
GPathogenic
DOCK9-DT, EFNB2
+544 more
Copy number gain
See cases
GPathogenic
ABHD13, ANKRD10
+342 more
Copy number loss
Holoprosencephaly 5
GPathogenic
ABHD13, ADPRHL1
+421 more
Copy number gain
See cases
GPathogenic
LOC132090158, LOC132090159
+395 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+369 more
Copy number loss
See cases
GPathogenic
LOC130010172, LOC130010173
+367 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+360 more
Copy number gain
See cases
GPathogenic
GAS6-AS1, GAS6-DT
+363 more
Copy number loss
See cases
GPathogenic
LOC121468007, LOC121838584
+339 more
Copy number loss
See cases
GPathogenic
LINC00399, LINC00443
+152 more
Copy number gain
See cases
GUncertain significance
ABHD13, ADPRHL1
+331 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+331 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+332 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+325 more
Copy number gain
See cases
GUncertain significance
LOC116268457, LOC121468007
+321 more
Copy number loss
See cases
GPathogenic
ABHD13, ARGLU1
+90 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+318 more
Copy number loss
See cases
GPathogenic
LOC130010152, LOC130010153
+312 more
Copy number loss
Chromosome 13q33-q34 deletion syndrome
GPathogenic
ABHD13, ADPRHL1
+302 more
Copy number loss
See cases
GPathogenic
LOC130010121, LOC130010122
+156 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+286 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+286 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ANKRD10
+271 more
Copy number loss
See cases
GPathogenic
LOC130010213, LOC130010214
+261 more
Deletion
Factor VII deficiency
+1 more
GPathogenic
COL4A1, COL4A2
+27 more
Duplication
not specified
GUncertain significance
ANKRD10, ANKRD10-IT1
+73 more
Copy number gain
See cases
GUncertain significance
COL4A1
Single nucleotide variant
COL4A1-related disorder
GLikely benign
COL4A1
Single nucleotide variant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+2 more
GLikely benign
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Porencephalic cyst
+2 more
GConflicting classifications of pathogenicity
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Brain small vessel disease 1 with or without ocular anomalies
+1 more
GUncertain significance
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+1 more
GBenign/Likely benign
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+1 more
GUncertain significance
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Brain small vessel disease 1 with or without ocular anomalies
+1 more
GBenign/Likely benign
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+1 more
GUncertain significance
COL4A1
Deletion
(3 prime UTR variant)
Brain small vessel disease 1 with or without ocular anomalies
+2 more
GUncertain significance
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+1 more
GBenign
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Porencephalic cyst
+2 more
GBenign/Likely benign
COL4A1
Microsatellite
(3 prime UTR variant)
Brain small vessel disease 1 with or without ocular anomalies
+2 more
GUncertain significance
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Brain small vessel disease 1 with or without ocular anomalies
+1 more
GBenign/Likely benign
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Porencephalic cyst
+2 more
GBenign
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Brain small vessel disease 1 with or without ocular anomalies
+2 more
GUncertain significance
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+1 more
GUncertain significance
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Porencephalic cyst
+2 more
GUncertain significance
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Porencephalic cyst
+2 more
GUncertain significance
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+1 more
GUncertain significance
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Brain small vessel disease 1 with or without ocular anomalies
+2 more
GConflicting classifications of pathogenicity
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Porencephalic cyst
+2 more
GBenign/Likely benign
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Brain small vessel disease 1 with or without ocular anomalies
+4 more
GUncertain significance
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Vascular dementia
GUncertain significance
COL4A1
Deletion
(3 prime UTR variant)
not provided
GUncertain significance
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
GPathogenic
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Brain small vessel disease 1 with or without ocular anomalies
GLikely pathogenic
COL4A1
Single nucleotide variant
(3 prime UTR variant)
not provided
GPathogenic
COL4A1
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
COL4A1
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
GPathogenic
COL4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+2 more
GUncertain significance
COL4A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A1
(R1668del)
Microsatellite
(inframe_deletion)
not provided
+5 more
GUncertain significance
COL4A1
(R1668T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A1
(R1668K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A1
(M1666I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A1
(M1666V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A1
(C1665Y)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
COL4A1
(C1662R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A1
(R1661H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A1
(R1661C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL4A1
(V1659L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A1
(V1659I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A1
Single nucleotide variant
(synonymous variant)
COL4A1-related disorder
+1 more
GLikely benign
COL4A1
(H1658Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GBenign/Likely benign
COL4A1
(T1657M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL4A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A1
(R1656H)
Single nucleotide variant
(missense variant)
Brain small vessel disease 1 with or without ocular anomalies
+5 more
GUncertain significance
COL4A1
(R1656S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A1
(R1656C)
Single nucleotide variant
(missense variant)
Hemorrhage, intracerebral, susceptibility to
+5 more
GUncertain significance
COL4A1
(E1654V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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