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Links from MedGen

Items: 1 to 100 of 138

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
(S155N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
(A156V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Microsatellite
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
(M25T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A, LOC112872299
(L182M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
LOC112872299, RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
(E163D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
LOC112872299, RAB7A
(L182V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
LOC112872299, RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
LOC112872299, RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
LOC112872299, RAB7A
(K191R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
(S145N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
(M51T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
LOC112872299, RAB7A
(A198S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
LOC112872299, RAB7A
(A202G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
(A170T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
LOC112872299, RAB7A
(S201L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
LOC112872299, RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
LOC112872299, RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A, LOC112872299
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
LOC112872299, RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
LOC112872299, RAB7A
(R197G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
(A156G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
(T168M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
(N161D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
(A135T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
LOC112872299, RAB7A
(T178M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
(P150T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
LOC112872299, RAB7A
(R197W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RAB7A
(K126R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GBenign
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
(F152L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GBenign
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
(N161S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
(K157N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GPathogenic
LOC112872299, RAB7A
(R197Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
(V50M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
(A156T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
LOC112872299, RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
GLikely benign
ACAD9-DT, CFAP92
+8 more
Duplication
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
(N161I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GPathogenic
LOC112872299, RAB7A
(I190V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+2 more
GLikely benign
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
+1 more
GLikely benign
LOC112872299, RAB7A
(N184S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC112872299, RAB7A
(D193N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GUncertain significance
RAB7A
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B
+3 more
GLikely benign
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+3 more
GLikely benign
RAB7A
(I169T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RAB7A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B
+1 more
GLikely benign
RAB7A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
RAB7A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
RAB7A
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2B
GBenign
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