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Links from MedGen

Items: 1 to 100 of 980

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
(S83I)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GUncertain significance
GJB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
GJB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
GJB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
GJB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
GJB1
(S62T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
GUncertain significance
PRPS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
(R260C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
GUncertain significance
PRPS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
AIFM1, LOC130068679
+1 more
(R26P)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
(S207R +2 more)
Single nucleotide variant
(missense variant +2 more)
Combined oxidative phosphorylation deficiency
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +2 more)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, LOC130068679
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
(E290G +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GUncertain significance
AIFM1, LOC130068679
+1 more
(R33Q)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
RAB33A, AIFM1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
RAB33A, AIFM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
+1 more
GUncertain significance
AIFM1, RAB33A
(K107R +2 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GUncertain significance
AIFM1, RAB33A
(V230L +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +2 more)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
(G224A +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
AIFM1, RAB33A
(A454G +2 more)
Single nucleotide variant
(missense variant +2 more)
Combined oxidative phosphorylation deficiency
+1 more
GUncertain significance
AIFM1, RAB33A
(P129S +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
AIFM1, RAB33A
(M142V +2 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
AIFM1, RAB33A
(E329G +1 more)
Single nucleotide variant
(5 prime UTR variant +3 more)
Inborn genetic diseases
+2 more
GUncertain significance
AIFM1, LOC130068679
+1 more
(A11P)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +2 more)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
(V187I +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
Insertion
(intron variant)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
Microsatellite
(intron variant)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
(K514R +2 more)
Single nucleotide variant
(missense variant +2 more)
Combined oxidative phosphorylation deficiency
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency
+1 more
GBenign
AIFM1, RAB33A
(K86N +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
(Y560C +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Combined oxidative phosphorylation deficiency
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
(G60S +2 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely pathogenic
AIFM1, RAB33A
(A516V +2 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
AIFM1, RAB33A
(S191L +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GUncertain significance
AIFM1, RAB33A
(T188A +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
AIFM1, RAB33A
Microsatellite
(intron variant)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(5 prime UTR variant +3 more)
Charcot-Marie-Tooth Neuropathy X
+2 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
AIFM1, RAB33A
(S371Y +2 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
RAB33A, AIFM1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GBenign
RAB33A, AIFM1
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
(G58V)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +1 more)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(non-coding transcript variant +2 more)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency
+1 more
GLikely benign
AIFM1, RAB33A
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
PRPS1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
GJB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
GJB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
GJB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
GJB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
GJB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
GJB1
(D66E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
GUncertain significance
PRPS1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
(D128H)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GUncertain significance
GJB1
Deletion
(splice acceptor variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GPathogenic
PRPS1
Deletion
(intron variant)
Charcot-Marie-Tooth Neuropathy X
GBenign
PRPS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
GJB1
(R223fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth Neuropathy X
GPathogenic
GJB1
(W77C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
GUncertain significance
GJB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
GJB1
(H116fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth Neuropathy X
GPathogenic
GJB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
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