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Links from MedGen

Items: 1 to 100 of 463

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
S100PBP, YARS1
(T15A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(K47R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(M214I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
LOC126805688, YARS1
(G285fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(D417N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(V402M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(Q429*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(A78G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(V421M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(D478V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(G168fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
LOC126805688, YARS1
(C250S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
LOC126805688, YARS1
(V260A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
LOC126805688, YARS1
(R237Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(A397V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
Duplication
(inframe_insertion)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
LOC126805688, YARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
Deletion
(splice donor variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(T70fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(T508I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(V54A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(I375N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(T508N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(P331R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(T130I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
LOC126805688, YARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(K523R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
LOC126805688, YARS1
(C250Y)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(E362D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Duplication
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
LOC126805688, YARS1
(I232T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(I324V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(V133M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(K26E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(Q142*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1, S100PBP
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(A503P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(N82D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(A337G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
LOC126805688, YARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
LOC126805688, YARS1
(L268F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
LOC126805688, YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(C442G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(K484R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
LOC126805688, YARS1
(E274Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(I30L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
LOC126805688, YARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(M214V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
+1 more
GUncertain significance
YARS1
Deletion
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Deletion
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Deletion
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(R325W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
LOC126805688, YARS1
(N258S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
+1 more
GUncertain significance
YARS1
(M56T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
+1 more
GUncertain significance
YARS1
(Q188H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
+1 more
GUncertain significance
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GBenign
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(E91Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(R34Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Microsatellite
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(I527V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
LOC126805688, YARS1
(R279Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(R450L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
+1 more
GLikely benign
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(S224G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1, LOC126805688
(E239K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
YARS1
(P360A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
+1 more
GUncertain significance
YARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate C
GLikely benign
S100PBP, YARS1
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
LOC126805688, YARS1
(P270A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(E480G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(M83T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(V139A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
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