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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AIFM1, RAB33A
(P204L +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease X-linked recessive 4
GUncertain significance
RAB33A, AIFM1
(D150N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AIFM1, RAB33A
(A255G +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease X-linked recessive 4
GLikely pathogenic
AIFM1, RAB33A
Microsatellite
(inframe_deletion +1 more)
Charcot-Marie-Tooth disease X-linked recessive 4
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +1 more)
Severe X-linked mitochondrial encephalomyopathy
+6 more
GBenign/Likely benign
AIFM1, RAB33A
(V243L +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease X-linked recessive 4
+1 more
GConflicting classifications of pathogenicity
AIFM1, RAB33A
(T141I +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease X-linked recessive 4
GPathogenic
AIFM1, RAB33A
(G262S +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease X-linked recessive 4
GPathogenic
AIFM1, RAB33A
(G308E +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease X-linked recessive 4
+1 more
GConflicting classifications of pathogenicity
AIFM1, RAB33A
(I561V +2 more)
Single nucleotide variant
(missense variant +2 more)
Deafness, X-linked 5
+6 more
GUncertain significance
AIFM1, RAB33A
(E336K +1 more)
Single nucleotide variant
(5 prime UTR variant +3 more)
Charcot-Marie-Tooth Neuropathy X
+3 more
GConflicting classifications of pathogenicity
RAB33A, AIFM1
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+7 more
GBenign/Likely benign
AIFM1, RAB33A
(S57C)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+6 more
GConflicting classifications of pathogenicity
AIFM1, RAB33A
(M340T +2 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+6 more
GPathogenic/Likely pathogenic
RAB33A, AIFM1
(A549V +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
+8 more
GBenign
AIFM1, RAB33A
(R459I +2 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+3 more
GConflicting classifications of pathogenicity
LOC130068679, RAB33A
+1 more
(P35S)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease X-linked recessive 4
+6 more
GBenign/Likely benign
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +2 more)
Severe X-linked mitochondrial encephalomyopathy
+8 more
GBenign/Likely benign
AIFM1, RAB33A
(E493V +2 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease X-linked recessive 4
GConflicting classifications of pathogenicity
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