U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 333

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064390, LOC130064391
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
ACTN4, LOC130064360
Single nucleotide variant
not provided
GLikely benign
ACTN4, LOC130064360
Single nucleotide variant
not provided
GLikely benign
ACTN4, LOC130064360
Single nucleotide variant
not provided
GLikely benign
ACTN4
(H5Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN4
(Q9E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN4
(G19C)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 1
+1 more
GUncertain significance
ACTN4
(A22V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACTN4
Duplication
(inframe_insertion)
not provided
GUncertain significance
ACTN4
(D30N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACTN4
(K54R)
Single nucleotide variant
(missense variant)
Corticosteroids response
Gdrug response
ACTN4, LOC130064361
Single nucleotide variant
(intron variant)
not provided
GBenign
ACTN4, LOC130064361
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN4, LOC130064361
Deletion
(intron variant)
not provided
GLikely benign
ACTN4, LOC130064361
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN4, LOC130064361
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 1
+1 more
GBenign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 1
+1 more
GConflicting classifications of pathogenicity
ACTN4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ACTN4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACTN4
(T57M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN4
(W59R)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 1
GLikely pathogenic
ACTN4
(L64V)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 1
GUncertain significance
ACTN4
(I71M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ACTN4
(F78L)
Single nucleotide variant
(missense variant)
Corticosteroids response
Gdrug response
ACTN4
(R79Q)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 1
GLikely pathogenic
ACTN4
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 1
+1 more
GLikely benign
ACTN4
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis
+3 more
GBenign
ACTN4
(L86V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 1
+1 more
GBenign
ACTN4
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 1
+1 more
GBenign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GBenign
ACTN4
(R95W)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 1
GUncertain significance
ACTN4
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 1
+1 more
GBenign/Likely benign
ACTN4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACTN4
(A115T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ACTN4
(I129V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACTN4
Deletion
(intron variant)
not provided
GBenign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GBenign
ACTN4
Duplication
(intron variant)
not provided
GBenign
ACTN4
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 1
+2 more
GBenign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACTN4
(I150del)
Microsatellite
(inframe_deletion)
not provided
GPathogenic
ACTN4
(I149V)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 1
GUncertain significance
ACTN4
(F153S)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 1
GLikely pathogenic
ACTN4
(F153L)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
ACTN4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ACTN4
(E161G)
Single nucleotide variant
(missense variant)
Corticosteroids response
Gdrug response
ACTN4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GBenign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACTN4
(A165T)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 1
GLikely pathogenic
ACTN4
(K166R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACTN4
(L171del)
Deletion
(inframe_deletion)
Focal segmental glomerulosclerosis 1
GLikely pathogenic
ACTN4
(P179L)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
+3 more
GBenign/Likely benign
ACTN4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ACTN4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ACTN4
(N184S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN4
(F188L)
Single nucleotide variant
(missense variant)
Corticosteroids response
Gdrug response
ACTN4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GBenign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ACTN4
Deletion
(splice acceptor variant)
not specified
GUncertain significance
ACTN4
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ACTN4
(G195V)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 1
GPathogenic
ACTN4
(G195D)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 1
GPathogenic
ACTN4
Deletion
(inframe_deletion)
not provided
GUncertain significance
ACTN4
(E211K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN4
Deletion
(intron variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GBenign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 1
+1 more
GBenign
ACTN4
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 1
+1 more
GBenign
ACTN4
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 1
+1 more
GBenign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ACTN4
(N225K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACTN4
(M240T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN4
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 1
+1 more
GBenign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
ACTN4
(I246M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACTN4
(V247M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACTN4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACTN4
(K255E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
ACTN4
(I257R)
Single nucleotide variant
(missense variant +1 more)
Focal segmental glomerulosclerosis 1
GUncertain significance
ACTN4
(T259I)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination