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Items: 1 to 100 of 681

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RARS2, SLC35A1
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
RARS2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2, SLC35A1
Single nucleotide variant
(synonymous variant +1 more)
Pontocerebellar hypoplasia type 6
+3 more
GBenign/Likely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RARS2
(R560H +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 6
+1 more
GConflicting classifications of pathogenicity
RARS2
(R385C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Deletion
(intron variant)
not provided
+1 more
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
RARS2
Deletion
(splice donor variant)
not provided
GPathogenic
RARS2
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
(V373L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
RARS2
(P546L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pontocerebellar hypoplasia type 6
+2 more
GConflicting classifications of pathogenicity
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
(I366V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
(L539Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
(T363fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Deletion
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Deletion
(intron variant)
not provided
GLikely benign
RARS2
Deletion
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Duplication
(intron variant)
not provided
GLikely benign
RARS2
Duplication
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
(L528fs +1 more)
Duplication
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
+2 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
(L351P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RARS2
(Y349fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
(V347I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
(R344fs +1 more)
Deletion
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
(D515G +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RARS2
Deletion
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Deletion
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RARS2
Deletion
(intron variant)
not provided
GUncertain significance
RARS2
Microsatellite
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RARS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
RARS2
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
RARS2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
(I498V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
RARS2
(S320fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
RARS2
(Q319fs +1 more)
Microsatellite
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
(G303* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
RARS2
(F302fs +1 more)
Deletion
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
(T476P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RARS2
(E299G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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