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Items: 1 to 100 of 466

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130004555, LOC130004556
+375 more
Copy number loss
See cases
GPathogenic
LOC130004500, LOC130004501
+821 more
Copy number gain
See cases
GPathogenic
EDRF1-AS1, EDRF1-DT
+1036 more
Copy number gain
See cases
GPathogenic
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
LOC130004535, PAX2
Copy number loss
See cases
GPathogenic
PAX2
(A5T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAX2
Single nucleotide variant
(intron variant)
PAX2-related disorder
GLikely benign
PAX2
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 7
+1 more
GBenign
PAX2
Single nucleotide variant
(intron variant)
not provided
GBenign
PAX2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
PAX2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
PAX2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
PAX2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
PAX2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
PAX2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
PAX2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
PAX2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
PAX2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
PAX2
Single nucleotide variant
(5 prime UTR variant +1 more)
PAX2-related disorder
GLikely benign
PAX2
Single nucleotide variant
(5 prime UTR variant +1 more)
PAX2-related disorder
GLikely benign
PAX2
(M1V +1 more)
Single nucleotide variant
(missense variant +1 more)
Focal segmental glomerulosclerosis 7
GUncertain significance
PAX2
(M3T +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 7
+1 more
GUncertain significance
PAX2
(M34K +1 more)
Single nucleotide variant
(missense variant)
Renal coloboma syndrome
+1 more
GUncertain significance
PAX2
(P40R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAX2
Indel
(splice donor variant)
not provided
GPathogenic
PAX2
Single nucleotide variant
(synonymous variant)
Renal coloboma syndrome
+1 more
GLikely benign
PAX2
Single nucleotide variant
(splice donor variant)
Renal coloboma syndrome
+1 more
GPathogenic
PAX2
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 7
+1 more
GUncertain significance
PAX2
Single nucleotide variant
(intron variant)
PAX2-related disorder
+1 more
GConflicting classifications of pathogenicity
PAX2
Single nucleotide variant
(intron variant)
not provided
GLikely pathogenic
PAX2
Single nucleotide variant
(intron variant)
Renal coloboma syndrome
+1 more
GLikely benign
PAX2
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 7
+1 more
GLikely benign
PAX2
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 7
+3 more
GBenign
PAX2
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 7
+1 more
GLikely benign
PAX2
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 7
+1 more
GLikely benign
PAX2
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 7
+1 more
GBenign
PAX2
Single nucleotide variant
(intron variant)
Renal coloboma syndrome
+1 more
GLikely benign
PAX2
Single nucleotide variant
(intron variant)
Renal coloboma syndrome
+2 more
GBenign
PAX2
Single nucleotide variant
(3 prime UTR variant +1 more)
Renal coloboma syndrome
GUncertain significance
PAX2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PAX2
Single nucleotide variant
(intron variant)
not provided
GBenign
PAX2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PAX2
Single nucleotide variant
(intron variant)
not provided
GBenign
PAX2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PAX2
Duplication
(intron variant)
Focal segmental glomerulosclerosis 7
+2 more
GUncertain significance
PAX2
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 7
+1 more
GLikely benign
PAX2
Microsatellite
(genic downstream transcript variant)
not provided
Gnot provided
PAX2
Single nucleotide variant
(splice acceptor variant)
Renal coloboma syndrome
+1 more
GLikely pathogenic
PAX2
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 7
+1 more
GLikely benign
PAX2
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 7
+1 more
GLikely benign
PAX2
(Q53fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
PAX2
(V51fs +1 more)
Deletion
(frameshift variant)
not provided
Gnot provided
PAX2
(L23fs +1 more)
Deletion
(frameshift variant)
not provided
Gnot provided
PAX2
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 7
+1 more
GLikely benign
PAX2
(V26fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PAX2
(V26fs +1 more)
Duplication
(frameshift variant)
Renal coloboma syndrome
+3 more
GPathogenic
PAX2
(V26fs +1 more)
Duplication
(frameshift variant)
Renal coloboma syndrome
GPathogenic
PAX2
(G55R +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 7
+1 more
GLikely pathogenic
PAX2
(G24W +1 more)
Single nucleotide variant
(missense variant)
Renal coloboma syndrome
GLikely pathogenic
PAX2
(G24R +1 more)
Single nucleotide variant
(missense variant)
Renal coloboma syndrome
+1 more
GUncertain significance
PAX2
(V26fs +1 more)
Deletion
(frameshift variant)
Renal coloboma syndrome
+2 more
GPathogenic
PAX2
(G24V +1 more)
Single nucleotide variant
(missense variant)
Renal coloboma syndrome
+1 more
GLikely pathogenic
PAX2
(G55E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PAX2
(G24A +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 7
+2 more
GConflicting classifications of pathogenicity
PAX2
Single nucleotide variant
(synonymous variant)
Renal coloboma syndrome
+1 more
GLikely benign
PAX2
Single nucleotide variant
(synonymous variant)
Renal coloboma syndrome
+1 more
GLikely benign
PAX2
(V26M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PAX2
(V26L +1 more)
Single nucleotide variant
(missense variant)
Renal coloboma syndrome
+1 more
GUncertain significance
PAX2
(V26L +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 7
+1 more
GUncertain significance
PAX2
(R62Q +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 7
+1 more
GUncertain significance
PAX2
(L33fs +1 more)
Deletion
(frameshift variant)
Focal segmental glomerulosclerosis 7
+1 more
GPathogenic
PAX2
Single nucleotide variant
(synonymous variant)
PAX2-related disorder
+2 more
GLikely benign
PAX2
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 7
+1 more
GLikely benign
PAX2
(D66H +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 7
+1 more
GUncertain significance
PAX2
(D66N +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 7
+1 more
GUncertain significance
PAX2
(R38K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PAX2
Single nucleotide variant
(synonymous variant)
PAX2-related disorder
GLikely benign
PAX2
(Q39fs +1 more)
Deletion
(frameshift variant)
Renal coloboma syndrome
+1 more
GPathogenic
PAX2
(Q39* +1 more)
Single nucleotide variant
(nonsense)
PAX2-related disorder
GLikely pathogenic
PAX2
(Q39fs +1 more)
Deletion
(frameshift variant)
Focal segmental glomerulosclerosis 7
+1 more
GPathogenic
PAX2
Deletion
(inframe_deletion)
not provided
Gnot provided
PAX2
(Q39H +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 7
+1 more
GUncertain significance
PAX2
(R40fs +1 more)
Microsatellite
(frameshift variant)
not provided
GPathogenic
PAX2
(R40C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PAX2
Single nucleotide variant
(synonymous variant)
Renal coloboma syndrome
+1 more
GUncertain significance
PAX2
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 7
+1 more
GLikely benign
PAX2
(V42A +1 more)
Single nucleotide variant
(missense variant)
Renal coloboma syndrome
GUncertain significance
PAX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PAX2
(L75fs +1 more)
Deletion
(frameshift variant)
Renal coloboma syndrome
GPathogenic
PAX2
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 7
+1 more
GLikely benign
PAX2
Single nucleotide variant
(synonymous variant)
Renal coloboma syndrome
+1 more
GLikely benign
PAX2
(R81W +1 more)
Single nucleotide variant
(missense variant)
Renal coloboma syndrome
GLikely pathogenic
PAX2
(D53N +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 7
GUncertain significance
PAX2
Single nucleotide variant
(synonymous variant)
Renal coloboma syndrome
+1 more
GLikely benign
PAX2
Single nucleotide variant
(synonymous variant)
Renal coloboma syndrome
+1 more
GUncertain significance
PAX2
(R56Q +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 7
GPathogenic
PAX2
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 7
+1 more
GLikely benign
PAX2
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 7
+1 more
GLikely benign
PAX2
(R59W +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 7
GLikely pathogenic
PAX2
Single nucleotide variant
(synonymous variant)
Renal coloboma syndrome
+1 more
GLikely benign
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