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Links from MedGen

Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTMR2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B1
GLikely pathogenic
MTMR2
(T108M +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B1
GLikely pathogenic
MTMR2
(K295fs +1 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
MTMR2
(R257fs +1 more)
Microsatellite
(frameshift variant)
Charcot-Marie-Tooth disease type 4B1
GLikely pathogenic
MTMR2
(F498L +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
(R102* +1 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
MTMR2
(S49C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
MTMR2
(H32D)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4B1
+1 more
GLikely benign
MTMR2
(Y507fs +1 more)
Indel
(frameshift variant)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
MTMR2
(C155R +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B1
GLikely pathogenic
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
+1 more
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
(F25I +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
(K184fs +1 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 4B1
+1 more
GPathogenic/Likely pathogenic
MTMR2
(L10fs)
Microsatellite
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
(R295* +1 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
MTMR2
(R364* +1 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4
+2 more
GPathogenic
MTMR2
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
MTMR2
(F426fs +1 more)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
MTMR2
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
MTMR2
(Q590* +1 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
MTMR2
(W388* +1 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
MTMR2
(I581V +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B1
+4 more
GConflicting classifications of pathogenicity
MTMR2
(P202A +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B1
+4 more
GUncertain significance
MTMR2
(E298D +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+4 more
GUncertain significance
MTMR2
(S6C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
MTMR2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
MTMR2
(S442fs +1 more)
Microsatellite
(frameshift variant)
Charcot-Marie-Tooth disease type 4B1
+1 more
GPathogenic
MTMR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B1
+3 more
GConflicting classifications of pathogenicity
MTMR2
Single nucleotide variant
Charcot-Marie-Tooth disease type 4B1
+1 more
GUncertain significance
MTMR2
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
(R62del)
Deletion
(5 prime UTR variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
MTMR2
(A71V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
(A183S +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GConflicting classifications of pathogenicity
MTMR2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+3 more
GBenign/Likely benign
MTMR2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
+1 more
GConflicting classifications of pathogenicity
MTMR2
(V447I +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B1
+1 more
GUncertain significance
MTMR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B1
+4 more
GBenign/Likely benign
MTMR2
(E502Q +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GBenign
MTMR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+3 more
GConflicting classifications of pathogenicity
MTMR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+3 more
GBenign
MTMR2
(A602G +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+3 more
GBenign/Likely benign
MTMR2
(Q615E +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
MTMR2
(R621Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MTMR2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
+1 more
GBenign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GLikely benign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GBenign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
+1 more
GBenign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GLikely benign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
+1 more
GBenign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GLikely benign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
+1 more
GBenign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GBenign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
+1 more
GBenign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GUncertain significance
MTMR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B1
GLikely benign
MTMR2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
MTMR2
(K3T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
+4 more
GBenign
MTMR2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
MTMR2
(S27T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GUncertain significance
MTMR2
(E446K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
MTMR2
(S619P +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GConflicting classifications of pathogenicity
MTMR2
(R119Q +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B1
+2 more
GUncertain significance
MTMR2
(N545S +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
MTMR2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
+4 more
GBenign
MTMR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+4 more
GBenign
MTMR2
(Q482* +1 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
MTMR2
(E276* +1 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
MTMR2
(Q426* +1 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4
GPathogenic
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