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Links from MedGen

Items: 1 to 100 of 204

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RARS2
(K111fs)
Deletion
(non-coding transcript variant +2 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(E300fs +1 more)
Microsatellite
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
RARS2
Single nucleotide variant
(splice acceptor variant)
Pontocerebellar hypoplasia type 6
+1 more
GLikely pathogenic
RARS2
(Y266* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
RARS2
(S348fs +1 more)
Indel
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(G264fs +1 more)
Deletion
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia type 6
+1 more
GLikely pathogenic
RARS2
Duplication
(nonsense +1 more)
Pontocerebellar hypoplasia type 6
GPathogenic
RARS2
(D53fs)
Duplication
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(Q200* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
Single nucleotide variant
(non-coding transcript variant +2 more)
Pontocerebellar hypoplasia type 6
+1 more
GLikely pathogenic
RARS2
(Y206fs +1 more)
Deletion
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(P59fs)
Deletion
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(L353fs +1 more)
Duplication
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(F278fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(E265fs +1 more)
Deletion
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
GPathogenic
RARS2
(Q342* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
Indel
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(I127fs)
Deletion
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
(N18fs)
Deletion
(5 prime UTR variant +3 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
Single nucleotide variant
(splice donor variant)
Pontoneocerebellar hypoplasia
+2 more
GPathogenic/Likely pathogenic
RARS2
(W241* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia type 6
+1 more
GLikely pathogenic
RARS2
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
(R15fs)
Microsatellite
(5 prime UTR variant +3 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(L24fs)
Deletion
(non-coding transcript variant +3 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(splice acceptor variant)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(R158fs +1 more)
Deletion
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(M229V +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 6
+1 more
GLikely pathogenic
RARS2
(Q316* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(D368fs +1 more)
Deletion
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(R146fs)
Indel
(frameshift variant +3 more)
Pontoneocerebellar hypoplasia
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(splice acceptor variant)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
Single nucleotide variant
(splice acceptor variant)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(Q246* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
RARS2
(D41G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
Single nucleotide variant
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
+1 more
GLikely pathogenic
RARS2
(R7S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
(S280G +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
(S337L +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
Deletion
(splice donor variant)
Pontocerebellar hypoplasia type 6
GLikely pathogenic
RARS2
(Q102* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely pathogenic
RARS2
(V286fs +1 more)
Deletion
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
RARS2
(L440* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RARS2
(H178fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
RARS2
(I9V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia type 6
+1 more
GLikely pathogenic
RARS2
(H141R)
Single nucleotide variant
(missense variant +3 more)
Pontocerebellar hypoplasia type 6
GPathogenic
RARS2
(Q289* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia type 6
+1 more
GLikely pathogenic
RARS2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
RARS2
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
RARS2
(Q33* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic
RARS2
(R158* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RARS2
(D234fs +1 more)
Insertion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RARS2
(S239* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RARS2
(N93fs)
Deletion
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
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
(H296Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RARS2
(E195Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RARS2
(A10T)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GUncertain significance
RARS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
RARS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
RARS2
(K263* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RARS2
(I135fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RARS2
(C3*)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RARS2
(E95fs)
Microsatellite
(5 prime UTR variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RARS2
(R94fs)
Microsatellite
(frameshift variant +2 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(non-coding transcript variant +1 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(intron variant)
Pontoneocerebellar hypoplasia
+2 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
(R344fs +1 more)
Deletion
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
(V215I +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
RARS2
(H163R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+1 more
GUncertain significance
RARS2
(I259del +1 more)
Microsatellite
(inframe_deletion +1 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
(D173N)
Single nucleotide variant
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
+1 more
GConflicting classifications of pathogenicity
RARS2
(T171I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
RARS2
(V384I +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
(E37G)
Single nucleotide variant
(5 prime UTR variant +3 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
(V88I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
(A213T +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
(A237T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RARS2
(A10V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
(G457R +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 6
GUncertain significance
RARS2
(M1L)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RARS2
(E212fs +1 more)
Deletion
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
+2 more
GPathogenic/Likely pathogenic
RARS2
Deletion
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
(Q319fs +1 more)
Microsatellite
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
RARS2
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia type 6
+1 more
GPathogenic/Likely pathogenic
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