U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 465

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLAA
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(L769I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(I768L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(S776T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(Y752H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLAA
(K751T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(I749fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
PLAA
(Q771* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(S765Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLAA
(A759V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(N735S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(D755G +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PLAA
(S754N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(T719S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(I732V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(K699N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(K722fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
PLAA
(E720G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(I677V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(K673N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(K673N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(S671R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(A664V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(S662F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(Q656R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(M653I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(K674T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(V668I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PLAA
(N642S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(N665fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
PLAA
(F640L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(Q633E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(P630I +1 more)
Indel
(missense variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
+1 more
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(N622S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(I621T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(H619R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(S618N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(Q615H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLAA
(N604D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(R618Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(I609T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLAA
Duplication
(intron variant)
not provided
GBenign
PLAA
Deletion
(intron variant)
not provided
GBenign
PLAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(E566Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(C561Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(C561R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
PLAA
(S581fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
PLAA
(K555fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
PLAA
(L552F +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PLAA
(I574L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(K544del +1 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
PLAA
(P540L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
(E557Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLAA
(G530D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLAA
(T549A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination