U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 1 to 100 of 435

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3R2
(A444T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130063979, PIK3R2
(R244W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PIK3R2
(G663S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R2
(T711S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC130063979, PIK3R2
(D271E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PIK3R2
(A298V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130063979, PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PIK3R2
(L96V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R2
(N628K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R2
(R620C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R2
(M608V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R2
(R527L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R2
Single nucleotide variant
(splice donor variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
(D161H)
Single nucleotide variant
(missense variant +1 more)
PIK3R2-related disorder
GUncertain significance
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
PIK3R2-related disorder
GLikely benign
LOC130063979, PIK3R2
(L239P)
Single nucleotide variant
(missense variant +1 more)
PIK3R2-related disorder
GLikely benign
LOC130063979, PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
PIK3R2-related disorder
GLikely benign
LOC130063979, PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
PIK3R2-related disorder
GLikely benign
LOC130063979, PIK3R2
(R223H)
Single nucleotide variant
(missense variant +1 more)
PIK3R2-related disorder
GUncertain significance
LOC130063979, PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
PIK3R2-related disorder
GLikely benign
LOC130063979, PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
PIK3R2-related disorder
GLikely benign
PIK3R2
Single nucleotide variant
(5 prime UTR variant +1 more)
PIK3R2-related disorder
GLikely benign
PIK3R2
Single nucleotide variant
(intron variant)
PIK3R2-related disorder
GLikely benign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
PIK3R2-related disorder
GLikely benign
PIK3R2
Single nucleotide variant
(intron variant)
PIK3R2-related disorder
GUncertain significance
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
PIK3R2-related disorder
GLikely benign
PIK3R2
(G92V)
Single nucleotide variant
(missense variant +1 more)
PIK3R2-related disorder
GUncertain significance
LOC130063979, PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
PIK3R2-related disorder
GLikely benign
LOC130063979, PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
PIK3R2-related disorder
GLikely benign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
(R16G)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
(M635V)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
(Q454R)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
LOC130063979, PIK3R2
Duplication
(inframe_insertion +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
Single nucleotide variant
(non-coding transcript variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
LOC130063980, PIK3R2
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GBenign
PIK3R2
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
(R510Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
(S313A)
Single nucleotide variant
(non-coding transcript variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
LOC130063979, PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
Deletion
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
(P725del)
Microsatellite
(inframe_deletion +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
LOC130063979, PIK3R2
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GBenign
PIK3R2
(Q494*)
Single nucleotide variant
(nonsense +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
LOC130063979, PIK3R2
Duplication
(inframe_insertion +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
Single nucleotide variant
(non-coding transcript variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
(A11S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
LOC130063979, PIK3R2
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
Single nucleotide variant
(non-coding transcript variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
(E342D)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
LOC130063979, PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
(G663E)
Indel
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
LOC130063979, PIK3R2
(P260S)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
LOC130063979, PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
LOC130063979, PIK3R2
(E189K)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
(R35W)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
(R89H)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
(T167M)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GBenign
PIK3R2
(T110R)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
(D334E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GBenign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
(G87fs)
Microsatellite
(frameshift variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
(R406G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PIK3R2
(R65W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PIK3R2
(R559C)
Single nucleotide variant
(missense variant +1 more)
Overgrowth syndrome
GUncertain significance
PIK3R2
(L159P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IFI30, PIK3R2
(P60L)
Single nucleotide variant
(missense variant)
not provided
GBenign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PIK3R2
(A632T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PIK3R2
(K572R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PIK3R2
(V132M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PIK3R2
(E62K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PIK3R2
(R652Q)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
+1 more
GUncertain significance
PIK3R2
(R420Q)
Single nucleotide variant
(missense variant +1 more)
PIK3R2-related disorder
GUncertain significance
PIK3R2
(A98S)
Single nucleotide variant
(missense variant +1 more)
PIK3R2-related disorder
GUncertain significance
LOC130063979, PIK3R2
(R244L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R2
(L446P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R2
(L109F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R2
(H404P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R2
(N485S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PIK3R2
Indel
(splice acceptor variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination