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Items: 1 to 100 of 1931

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A1CF, ADO
+561 more
Copy number gain
See cases
GPathogenic
LOC130003758, LOC130003759
+309 more
Copy number gain
See cases
GPathogenic
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
FAM170B, FAM170B-AS1
+306 more
Copy number gain
See cases
GPathogenic
AGAP4, AGAP6
+122 more
Deletion
10q11.22q11.23 deletion syndrome
GLikely pathogenic
AGAP10, AGAP4
+118 more
Copy number loss
See cases
GPathogenic
AGAP10, AGAP4
+125 more
Copy number loss
See cases
GPathogenic
RBP3, SLC18A3
+123 more
Copy number loss
See cases
GPathogenic
AGAP10, AGAP4
+122 more
Copy number loss
See cases
GUncertain significance
AGAP4, AGAP6
+122 more
Copy number loss
Pulmonary arterial hypertension
GLikely pathogenic
AGAP10, AGAP4
+121 more
Copy number loss
See cases
GLikely pathogenic
AGAP10, AGAP6
+119 more
Copy number gain
See cases
GUncertain significance
AGAP10, AGAP9
+114 more
Copy number loss
See cases
GLikely pathogenic
AGAP9, ANTXRL
+113 more
Copy number loss
See cases
GLikely pathogenic
AGAP10, AGAP9
+114 more
Copy number loss
See cases
GPathogenic
AGAP6, AGAP9
+147 more
Copy number loss
See cases
GPathogenic
AGAP9, ANTXRL
+112 more
Copy number loss
See cases
GLikely pathogenic
AGAP9, ANTXRL
+112 more
Copy number loss
See cases
GUncertain significance
AGAP9, ANTXRL
+112 more
Copy number gain
See cases
GPathogenic
LOC130003791, LOC130003792
+109 more
Duplication
Schizophrenia
GLikely pathogenic
ARHGAP22, ARHGAP22-IT1
+65 more
Copy number gain
See cases
GUncertain significance
ARHGAP22, ARHGAP22-IT1
+65 more
Copy number gain
See cases
GUncertain significance
C10orf71, C10orf71-AS1
+24 more
Copy number loss
See cases
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GLikely benign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Cockayne syndrome type 2
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GLikely benign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GBenign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GBenign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GBenign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+3 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+3 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+2 more
GLikely benign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+2 more
GLikely benign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+3 more
GBenign/Likely benign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Duplication
(3 prime UTR variant)
COFS syndrome
+2 more
GLikely benign
ERCC6
Deletion
(3 prime UTR variant)
COFS syndrome
+2 more
GBenign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Cockayne syndrome type 2
+2 more
GBenign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+2 more
GBenign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+2 more
GLikely benign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+2 more
GLikely benign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GBenign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+3 more
GBenign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Cerebrooculofacioskeletal syndrome 1
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Cockayne syndrome type 2
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Cerebrooculofacioskeletal syndrome 1
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Cerebrooculofacioskeletal syndrome 1
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Cerebrooculofacioskeletal syndrome 1
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Cerebrooculofacioskeletal syndrome 1
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+2 more
GBenign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Cockayne syndrome type 2
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Duplication
(3 prime UTR variant)
COFS syndrome
+2 more
GUncertain significance
ERCC6
Deletion
(3 prime UTR variant)
not provided
GLikely benign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GLikely benign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+3 more
GBenign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Cerebrooculofacioskeletal syndrome 1
+2 more
GUncertain significance
LOC113939916, LOC126860933
+10 more
Deletion
not provided
GPathogenic
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERCC6
(K1487T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC6
(I1485V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERCC6
(G1482V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERCC6
(S1480del)
Deletion
(inframe_deletion)
Cockayne syndrome
+5 more
GUncertain significance
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERCC6
(H1477R)
Single nucleotide variant
(missense variant)
Age related macular degeneration 5
+4 more
GConflicting classifications of pathogenicity
ERCC6
(F1476S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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