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Items: 1 to 100 of 281

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3R2
Single nucleotide variant
(splice donor variant)
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
(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
ZEB2
(I596V +1 more)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
(R652Q)
Single nucleotide variant
(missense variant +1 more)
PIK3R2-related condition
+1 more
GUncertain significance
PIK3R2
(R94C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
(D113A)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
(N628S)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
ARMC6, ARRDC2
+44 more
Duplication
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
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
GLikely benign
LOC130063979, PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
(R508C)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
+1 more
GUncertain significance
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
(S551L)
Single nucleotide variant
(non-coding transcript 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
(R559H)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GBenign
PIK3R2
(A718S)
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
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GBenign
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
GLikely benign
PIK3R2
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
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
+2 more
GLikely benign
PIK3R2
(E293K)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
LOC130063979, PIK3R2
(V232M)
Single nucleotide variant
(missense 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
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
(A40V)
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
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
GUncertain significance
PIK3R2
(G92C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
LOC130063980, PIK3R2
(K589R)
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
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
(S276N)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
+1 more
GConflicting classifications of pathogenicity
PIK3R2
(R539C)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GBenign
PIK3R2
(V716L)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GBenign
PIK3R2
(G663R)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
+1 more
GConflicting classifications of pathogenicity
LOC130063979, PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
PIK3R2
(G87S)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
PIK3R2
(I335V)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
+1 more
GUncertain significance
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
+1 more
GLikely benign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GLikely benign
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