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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
APOH, AXIN2
+109 more
Copy number loss
See cases
GPathogenic
PRKCA
Duplication
(5 prime UTR variant)
PRKCA-related disorder
GLikely benign
PRKCA
(D36N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCA
(D36G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCA
(D36E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC112533660, LOC121852945
+7 more
Deletion
Small for gestational age
Gnot provided
LOC125316774, LOC125316775
+5 more
Deletion
Large for gestational age
Gnot provided
LOC121852945, LOC125316774
+9 more
Copy number loss
See cases
GUncertain significance
PRKCA
Single nucleotide variant
(synonymous variant)
PRKCA-related disorder
GLikely benign
PRKCA
(D96E)
Single nucleotide variant
(missense variant)
PRKCA-related disorder
GUncertain significance
PRKCA
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PRKCA
(M130V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862621, PRKCA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126862621, PRKCA
Single nucleotide variant
(synonymous variant)
PRKCA-related disorder
GLikely benign
LOC126862621, PRKCA
(I162V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCA
(M186V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCA
(D203G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCA
(P221L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCA
(G257fs)
Deletion
(frameshift variant)
PRKCA-related disorder
GUncertain significance
PRKCA
(M267L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCA
(S272T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCA
(Y275H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCA
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PRKCA
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PRKCA
(V288I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCA
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PRKCA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRKCA
(R333Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRKCA
(G458A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCA
(N468D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRKCA
(M489V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PRKCA
(V526I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PRKCA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRKCA
Variation
(no sequence alteration)
not provided
GBenign
PRKCA
Single nucleotide variant
(intron variant)
not provided
GBenign
PRKCA
Single nucleotide variant
(synonymous variant)
PRKCA-related disorder
GBenign
PRKCA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRKCA
(V636I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PRKCA
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PRKCA
Copy number loss
not provided
GUncertain significance
APOH, CACNG5
+2 more
Copy number gain
not specified
GUncertain significance
PRKCA
Copy number loss
not provided
GUncertain significance
AANAT, AATK
+226 more
Copy number gain
not provided
GPathogenic
PRKCA
Copy number loss
not provided
GUncertain significance
ABCA6, ABCA8
+79 more
Copy number gain
not provided
GPathogenic
APOH, CEP112
+1 more
Copy number gain
See cases
GUncertain significance
ACE, AMZ2
+77 more
Copy number gain
not provided
GPathogenic
LLGL2, MAP2K6
+119 more
Copy number gain
not provided
GLikely pathogenic
AANAT, AATK
+222 more
Copy number gain
not provided
GPathogenic
APOH, PRKCA
+1 more
Copy number gain
not provided
GUncertain significance
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
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