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Items: 1 to 100 of 462

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
(G7E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG2
(S14R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
(G20C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHG2
(R35W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLEKHG2
(P38S)
Single nucleotide variant
(missense variant +1 more)
Leukodystrophy and acquired microcephaly with or without dystonia;
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PLEKHG2
(A40T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PLEKHG2
(M43T)
Single nucleotide variant
(missense variant +1 more)
PLEKHG2-related disorder
+1 more
GLikely benign
PLEKHG2
(P46L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
PLEKHG2
(R47Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PLEKHG2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PLEKHG2
(S52F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLEKHG2
(T53I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PLEKHG2
(S56G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLEKHG2
(G59D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PLEKHG2
(P70S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLEKHG2
(C72F)
Single nucleotide variant
(missense variant +1 more)
PLEKHG2-related disorder
+1 more
GLikely benign
PLEKHG2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PLEKHG2
(R86C)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
PLEKHG2
(P91L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLEKHG2
(V92M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLEKHG2
(G93E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
(R105C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
(V52M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG2
(R115Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHG2
(R63H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(intron variant)
Leukodystrophy and acquired microcephaly with or without dystonia;
+1 more
GBenign
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GBenign
PLEKHG2
(P131A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
(G135S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PLEKHG2
(G136R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
(Q144E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG2
(T147M +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PLEKHG2
(F158L +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
PLEKHG2
Deletion
(intron variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GBenign
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLEKHG2
Deletion
(intron variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(intron variant)
Leukodystrophy and acquired microcephaly with or without dystonia;
+1 more
GBenign
PLEKHG2
(N109K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
(G114W +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant)
Leukodystrophy and acquired microcephaly with or without dystonia;
+1 more
GBenign
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GBenign
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PLEKHG2
(D185Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
(P138L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLEKHG2
(A142T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHG2
(L203V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG2
(R204W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
PLEKHG2
(S148L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
(S209F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHG2
(P151L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHG2
(A153V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
(Q163* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PLEKHG2
(S167W +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
(P169A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLEKHG2
(A196V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLEKHG2
(T260I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHG2
(G262V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHG2
(G262D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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