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Items: 1 to 100 of 142

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
AAR2, ACOT8
+568 more
Copy number loss
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
PLTP, CTSA
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
CTSA, PLTP
Single nucleotide variant
(3 prime UTR variant +1 more)
Combined deficiency of sialidase AND beta galactosidase
GUncertain significance
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLTP
(A383G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(K474del +3 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
PLTP
(I420T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLTP
(H400Y +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PLTP
(V353A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(V393G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
(I384N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
(R344H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(E333A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLTP
(V334M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
(V334M +3 more)
Indel
(missense variant)
not provided
GUncertain significance
PLTP
(I325T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(K327M +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(P357T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLTP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLTP
Single nucleotide variant
(intron variant)
not provided
GBenign
PLTP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLTP
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PLTP
(L310Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(R394P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
(R304S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLTP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLTP
Single nucleotide variant
(intron variant)
not provided
GBenign
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PLTP
(R296C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLTP
(K330E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
(R292Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(R285W +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLTP
(R277H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLTP
(R372C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(A283T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLTP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLTP
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PLTP
(Q264fs +3 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLTP
(T299S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PLTP
(S250F +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLTP
(I249S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(P339L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(R239C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
Single nucleotide variant
(synonymous variant)
PLTP-related disorder
GLikely benign
PLTP
(R233Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(L228S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLTP
(L219P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
(R209K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PLTP
(K199R +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLTP
(D198E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
(V203M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
(G232R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
Single nucleotide variant
(synonymous variant)
PLTP-related disorder
GLikely benign
PLTP
(A188V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(R187Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PLTP
(E190Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLTP
(V171E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(P160L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
(R163Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
(N155K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
(P197S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLTP
(T147N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(T132S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(E123Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLTP
(R118C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
Single nucleotide variant
(intron variant)
not provided
GBenign
PLTP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLTP
(P109R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(D201E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLTP
(T141M +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PLTP
(P134R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLTP
Deletion
(intron variant)
not provided
GLikely benign
PLTP
Single nucleotide variant
(intron variant)
not provided
GBenign
PLTP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLTP
(L127F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
(R177C +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLTP
(V76L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLTP
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
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