U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Severe X-linked mitochondrial encephalomyopathy
GUncertain significance
AIFM1, RAB33A
(V419I +2 more)
Single nucleotide variant
(missense variant +2 more)
Severe X-linked mitochondrial encephalomyopathy
GUncertain significance
AIFM1, RAB33A
(S193R +2 more)
Single nucleotide variant
(missense variant +2 more)
Severe X-linked mitochondrial encephalomyopathy
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Severe X-linked mitochondrial encephalomyopathy
GPathogenic
RAB33A, AIFM1
(D150N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AIFM1, RAB33A
(G407del +2 more)
Microsatellite
(inframe_deletion +2 more)
Severe X-linked mitochondrial encephalomyopathy
GUncertain significance
RAB33A, AIFM1
(Q49H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
AIFM1, RAB33A
(P165L +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+3 more
GConflicting classifications of pathogenicity
AIFM1, LOC130068679
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
AIFM1, RAB33A
(Y83C)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+2 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +1 more)
Severe X-linked mitochondrial encephalomyopathy
+6 more
GBenign/Likely benign
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Severe X-linked mitochondrial encephalomyopathy
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Severe X-linked mitochondrial encephalomyopathy
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+2 more
GBenign
AIFM1, RAB33A
(V113A +2 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+3 more
GUncertain significance
AIFM1, RAB33A
(A110T +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency
+3 more
GConflicting classifications of pathogenicity
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
RAB33A, AIFM1
(G338E +1 more)
Single nucleotide variant
(5 prime UTR variant +3 more)
Severe X-linked mitochondrial encephalomyopathy
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
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
RAB33A, AIFM1
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+4 more
GBenign/Likely benign
AIFM1, RAB33A
(Q479R +2 more)
Single nucleotide variant
(missense variant +2 more)
Severe X-linked mitochondrial encephalomyopathy
GPathogenic
AIFM1, RAB33A
Single nucleotide variant
(5 prime UTR variant +1 more)
Severe X-linked mitochondrial encephalomyopathy
+1 more
GConflicting classifications of pathogenicity
AIFM1, LOC130068679
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Severe X-linked mitochondrial encephalomyopathy
GBenign
AIFM1, LOC130068679
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Severe X-linked mitochondrial encephalomyopathy
GUncertain significance
AIFM1, LOC130068679
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+4 more
GBenign/Likely benign
AIFM1, RAB33A
(M88V +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe X-linked mitochondrial encephalomyopathy
+3 more
GBenign/Likely benign
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +1 more)
Severe X-linked mitochondrial encephalomyopathy
+6 more
GBenign
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
+8 more
GBenign
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
AIFM1, RAB33A
Single nucleotide variant
(3 prime UTR variant +1 more)
Severe X-linked mitochondrial encephalomyopathy
GUncertain significance
AIFM1, RAB33A
(R151Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe X-linked mitochondrial encephalomyopathy
+3 more
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease
+6 more
GBenign/Likely benign
AIFM1, RAB33A
(R422Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+3 more
GPathogenic/Likely pathogenic
AIFM1, RAB33A
(R422W +2 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+5 more
GPathogenic/Likely pathogenic
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
Single nucleotide variant
(synonymous variant +2 more)
AIFM1-related disorder
+6 more
GBenign/Likely benign
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +2 more)
AIFM1-related disorder
+7 more
GBenign/Likely benign
AIFM1, RAB33A
Single nucleotide variant
(5 prime UTR variant +3 more)
Combined oxidative phosphorylation deficiency
+5 more
GBenign
RAB33A, AIFM1
Single nucleotide variant
(synonymous variant +1 more)
Combined oxidative phosphorylation deficiency
+5 more
GBenign
AIFM1, RAB33A
(R201del +1 more)
Deletion
(inframe_deletion +1 more)
Severe X-linked mitochondrial encephalomyopathy
GPathogenic
Format
Items per page
Sort by
Choose Destination