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Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RARS1
(W572*)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 9
GLikely pathogenic
RARS1
(I77del)
Microsatellite
(inframe_indel +1 more)
not provided
+1 more
GUncertain significance
RARS1
Indel
(missense variant)
Hypomyelinating leukodystrophy 9
GUncertain significance
RARS1
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 9
GUncertain significance
RARS1
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 9
GLikely benign
RARS1
(E283K)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 9
GUncertain significance
RARS1
(R512L)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 9
GUncertain significance
RARS1
(L508I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RARS1
(C638S)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 9
+2 more
GUncertain significance
RARS1
(A91V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RARS1
(K205fs)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 9
GLikely pathogenic
RARS1
(P69L)
Single nucleotide variant
(missense variant)
RARS1-related disorder
+3 more
GConflicting classifications of pathogenicity
RARS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
RARS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
RARS1
Duplication
(intron variant)
Hypomyelinating leukodystrophy 9
+1 more
GBenign
RARS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RARS1
(K287R)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 9
GUncertain significance
RARS1
(P265S)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 9
GUncertain significance
RARS1
(T606S)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 9
+2 more
GUncertain significance
RARS1
(R54Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RARS1
(L4Q)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 9
GUncertain significance
RARS1
(A439D)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 9
GLikely pathogenic
RARS1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
RARS1
(Y616fs)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 9
GPathogenic
RARS1
(R223H)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 9
+1 more
GUncertain significance
RARS1
(M1T)
Single nucleotide variant
(missense variant +1 more)
Hypomyelinating leukodystrophy 9
+1 more
GPathogenic/Likely pathogenic
RARS1
(V376E)
Single nucleotide variant
(missense variant)
RARS1-related disorder
+3 more
GBenign/Likely benign
RARS1
(V3I)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 9
+2 more
GBenign
RARS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
RARS1
(S456L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
RARS1
(R512Q)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 9
+1 more
GLikely pathogenic
RARS1
(M1V)
Single nucleotide variant
(missense variant +1 more)
Hypomyelinating leukodystrophy 9
+1 more
GPathogenic
RARS1
(C32fs)
Microsatellite
(frameshift variant)
Hypomyelinating leukodystrophy 9
GPathogenic
RARS1
Single nucleotide variant
(splice donor variant)
Hypomyelinating leukodystrophy 9
GPathogenic
RARS1
(D2G)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 9
+1 more
GPathogenic
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