U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RARS2
(R560H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
RARS2
(D515G +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
(S337L +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
(K336fs +1 more)
Deletion
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
Single nucleotide variant
(splice acceptor variant)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(S280G +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
(M342I +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 6
+2 more
GConflicting classifications of pathogenicity
RARS2
(Y322fs +1 more)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RARS2
Deletion
(splice donor variant)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(E159fs)
Deletion
(5 prime UTR variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RARS2
(K158del)
Deletion
(5 prime UTR variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
RARS2
(F140C)
Single nucleotide variant
(missense variant +3 more)
Pontocerebellar hypoplasia type 6
+3 more
GPathogenic/Likely pathogenic
RARS2
(I9V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
+1 more
GConflicting classifications of pathogenicity
RARS2
(R7S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
(M1V)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
+2 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination