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Items: 1 to 100 of 527

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD14A, ABHD14A-ACY1
+329 more
Copy number loss
See cases
GPathogenic
ABHD14A, ABHD14A-ACY1
+197 more
Copy number loss
See cases
GLikely pathogenic
PRKCD
Single nucleotide variant
(intron variant)
not provided
GBenign
PRKCD
Single nucleotide variant
(intron variant)
not provided
GBenign
PRKCD
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PRKCD
(A18V +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
(A8T +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(N26K +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(G15D +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(G15A +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(A35V +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
(E38K +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(A42V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
(V49M +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
(K31N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GBenign
PRKCD
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PRKCD
Single nucleotide variant
(intron variant)
not provided
GBenign
PRKCD
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PRKCD
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Deletion
(intron variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
(R56H +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(K48del +2 more)
Microsatellite
(inframe_deletion)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(K47R +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(K47T +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(K63N +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(M51V +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(M51T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCD
(S57L +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
+1 more
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
+2 more
GBenign
PRKCD
(I63V +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
(E65D +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
(V84I +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(V91M +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(V72L +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GBenign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
(V103M +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(V100L +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
(V102M +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
(S89L +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
+1 more
GConflicting classifications of pathogenicity
PRKCD
(V106M +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
(R110C +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(C111* +2 more)
Single nucleotide variant
(nonsense)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GPathogenic
PRKCD
(K115R +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(N118K +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
+1 more
GLikely benign
PRKCD
(A102V +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
(W105* +2 more)
Single nucleotide variant
(nonsense)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
+1 more
GConflicting classifications of pathogenicity
PRKCD
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GBenign/Likely benign
PRKCD
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GLikely benign
PRKCD
Microsatellite
(intron variant)
not specified
GBenign
PRKCD
Microsatellite
(intron variant)
not provided
GBenign
PRKCD
Microsatellite
(intron variant)
not specified
+1 more
GBenign
PRKCD
Insertion
(intron variant)
not specified
GBenign
PRKCD
Insertion
(intron variant)
not specified
GBenign
PRKCD
Insertion
(intron variant)
not specified
GBenign
PRKCD
Insertion
(intron variant)
not specified
GBenign
PRKCD
Insertion
(intron variant)
not specified
GBenign
PRKCD
Insertion
(intron variant)
not specified
GBenign
PRKCD
Insertion
(intron variant)
not specified
GBenign
PRKCD
Insertion
(intron variant)
not specified
GBenign
PRKCD
Insertion
(intron variant)
not specified
GBenign
PRKCD
Insertion
(intron variant)
not specified
GBenign
PRKCD
Insertion
(intron variant)
not specified
GBenign
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