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 119

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADTRP, ATXN1
+823 more
Copy number gain
See cases
GPathogenic
LOC129995555, LOC129995556
+641 more
Copy number gain
See cases
GPathogenic
LOC129995829, LOC129995830
+777 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+610 more
Copy number loss
See cases
GPathogenic
LOC129995745, LOC129995746
+557 more
Copy number gain
See cases
GLikely pathogenic
LOC110121220, LOC110121246
+2579 more
Copy number gain
See cases
GPathogenic
SERPINB9-AS1, SLC22A23
+571 more
Copy number gain
See cases
GPathogenic
LOC126859578, LOC126859579
+536 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+617 more
Copy number loss
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
LOC129995677, LOC129995678
+331 more
Copy number loss
See cases
GPathogenic
ADTRP, C6orf52
+154 more
Copy number loss
See cases
GPathogenic
PHACTR1
(I55V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 70
GUncertain significance
PHACTR1
(I55T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHACTR1
(R64G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 70
GLikely pathogenic
PHACTR1
(R64L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHACTR1
Single nucleotide variant
(synonymous variant)
PHACTR1-related disorder
+1 more
GLikely benign
PHACTR1
(T69K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 70
GUncertain significance
PHACTR1
(P70R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 70
GLikely pathogenic
PHACTR1
(L81M)
Single nucleotide variant
(missense variant)
PHACTR1-related disorder
GUncertain significance
PHACTR1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 70
GUncertain significance
PHACTR1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
PHACTR1
Copy number loss
See cases
GUncertain significance
PHACTR1
Single nucleotide variant
(intron variant)
not provided
GBenign
PHACTR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PHACTR1
(C20F)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 70
GUncertain significance
PHACTR1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PHACTR1
(L41M)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PHACTR1
(E48D)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PHACTR1
(S74G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PHACTR1
(A92V +1 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 70
GUncertain significance
PHACTR1
Single nucleotide variant
(synonymous variant)
PHACTR1-related disorder
GLikely benign
PHACTR1
Single nucleotide variant
(synonymous variant)
PHACTR1-related disorder
+1 more
GLikely benign
PHACTR1
(T136M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHACTR1
(T137R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHACTR1
(S149N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHACTR1
(G157E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHACTR1
(D164N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PHACTR1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
PHACTR1
(S173C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHACTR1
(E174A +2 more)
Single nucleotide variant
(missense variant)
PHACTR1-related disorder
GUncertain significance
PHACTR1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PHACTR1
Single nucleotide variant
(intron variant)
PHACTR1-related disorder
GLikely benign
PHACTR1
(P152A +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 70
GUncertain significance
PHACTR1
Single nucleotide variant
(synonymous variant +1 more)
PHACTR1-related disorder
GBenign
PHACTR1
(V173L +2 more)
Single nucleotide variant
(missense variant +1 more)
PHACTR1-related disorder
GBenign
PHACTR1
(Q175K +2 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
GUncertain significance
PHACTR1
(L179H +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 70
GUncertain significance
PHACTR1
Single nucleotide variant
(synonymous variant)
PHACTR1-related disorder
GLikely benign
PHACTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PHACTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PHACTR1
(S329P +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHACTR1
(T185A +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PHACTR1
Single nucleotide variant
(synonymous variant)
PHACTR1-related disorder
GLikely benign
PHACTR1
(G198S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHACTR1
Single nucleotide variant
(synonymous variant)
PHACTR1-related disorder
GBenign
PHACTR1
(H214L +4 more)
Indel
(missense variant)
Developmental and epileptic encephalopathy, 70
GUncertain significance
PHACTR1
(P215L +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PHACTR1
(D222E +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHACTR1
(M392V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHACTR1
Single nucleotide variant
(synonymous variant)
PHACTR1-related disorder
+1 more
GBenign
PHACTR1
(V242L +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 70
GUncertain significance
PHACTR1
(V242F +4 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental abnormality
GLikely benign
PHACTR1
(S412C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHACTR1
(G256D +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 70
GUncertain significance
PHACTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PHACTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PHACTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PHACTR1
Single nucleotide variant
(synonymous variant)
PHACTR1-related disorder
GLikely benign
PHACTR1
(E380K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHACTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PHACTR1
Single nucleotide variant
(synonymous variant)
PHACTR1-related disorder
GLikely benign
PHACTR1
(V326F +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 70
GUncertain significance
PHACTR1
(C327S +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 70
GLikely benign
PHACTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PHACTR1
(I334M +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 70
GLikely pathogenic
PHACTR1
(K342E +4 more)
Single nucleotide variant
(missense variant)
PHACTR1-related disorder
GUncertain significance
PHACTR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PHACTR1
(T371I +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 70
GUncertain significance
PHACTR1
Deletion
(intron variant)
Schizophrenia
GUncertain significance
GFOD1, GFOD1-AS1
+45 more
Copy number gain
See cases
GUncertain significance
PHACTR1, TBC1D7-LOC100130357
Single nucleotide variant
(intron variant)
PHACTR1-related disorder
GLikely benign
PHACTR1, TBC1D7-LOC100130357
Single nucleotide variant
(intron variant)
not provided
GBenign
PHACTR1, TBC1D7-LOC100130357
Deletion
(splice donor variant +1 more)
Developmental and epileptic encephalopathy, 70
GUncertain significance
TBC1D7-LOC100130357, PHACTR1
(L374M +4 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 70
GPathogenic
PHACTR1, TBC1D7-LOC100130357
(N479I +4 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 70
GPathogenic
LOC100130357, LOC129995804
+2 more
Deletion
(intron variant)
PHACTR1-related disorder
GLikely benign
LOC100130357, LOC129995804
+2 more
(R392Q +4 more)
Single nucleotide variant
(missense variant +1 more)
PHACTR1-related disorder
GUncertain significance
LOC100130357, LOC129995804
+2 more
(N393S +4 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 70
GUncertain significance
LOC100130357, LOC129995804
+2 more
(L408P +3 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 70
GPathogenic
LOC100130357, PHACTR1
+1 more
Microsatellite
(intron variant)
not provided
GBenign
LOC100130357, PHACTR1
+1 more
(R521C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100130357, PHACTR1
+1 more
Single nucleotide variant
(synonymous variant +1 more)
PHACTR1-related disorder
GLikely benign
LOC100130357, PHACTR1
+1 more
(W519C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100130357, PHACTR1
+1 more
(T454S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TBC1D7-LOC100130357, PHACTR1
+1 more
(A456G +4 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 70
GUncertain significance
LOC100130357, PHACTR1
+1 more
(T632S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100130357, PHACTR1
+1 more
(L493fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
GLikely benign
LOC100130357, PHACTR1
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
PHACTR1-related disorder
GBenign
ATXN1, CD83
+13 more
Copy number loss
not specified
GPathogenic
Format
Items per page
Sort by
Choose Destination