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Links from MedGen

Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB33A, AIFM1
(R230G +2 more)
Single nucleotide variant
(missense variant +2 more)
Deafness, X-linked 5
GLikely pathogenic
RAB33A, AIFM1
(I252M +2 more)
Single nucleotide variant
(missense variant +2 more)
Deafness, X-linked 5
GLikely pathogenic
RAB33A, AIFM1
(Q328E +1 more)
Single nucleotide variant
(5 prime UTR variant +3 more)
Deafness, X-linked 5
GUncertain significance
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +1 more)
Severe X-linked mitochondrial encephalomyopathy
+6 more
GBenign/Likely benign
AIFM1, RAB33A
(I410T +2 more)
Single nucleotide variant
(missense variant +2 more)
Deafness, X-linked 5
GUncertain significance
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
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +1 more)
Severe X-linked mitochondrial encephalomyopathy
+6 more
GBenign
AIFM1, RAB33A
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth Neuropathy X
+8 more
GBenign
AIFM1, RAB33A
(T260A +1 more)
Single nucleotide variant
(missense variant +1 more)
Deafness, X-linked 5
GPathogenic
AIFM1, RAB33A
(R451Q +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
AIFM1, RAB33A
Single nucleotide variant
(synonymous variant +2 more)
Combined oxidative phosphorylation deficiency
+3 more
GLikely benign
RAB33A, AIFM1
(G360R +2 more)
Single nucleotide variant
(missense variant +2 more)
Deafness, X-linked 5
GLikely pathogenic
AIFM1, RAB33A
(A440V +2 more)
Single nucleotide variant
(missense variant +2 more)
Deafness, X-linked 5
GLikely pathogenic
AIFM1, RAB33A
(Y560H +2 more)
Single nucleotide variant
(missense variant +2 more)
Deafness, X-linked 5
GLikely pathogenic
AIFM1, RAB33A
(V498M +2 more)
Single nucleotide variant
(missense variant +2 more)
Deafness, X-linked 5
GLikely pathogenic
AIFM1, RAB33A
(P475L +2 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely pathogenic
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
AIFM1, RAB33A
(N366S +2 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
AIFM1, RAB33A
(L344F +2 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+2 more
GConflicting classifications of pathogenicity
RAB33A, AIFM1
(I287T +1 more)
Single nucleotide variant
(missense variant +1 more)
Deafness, X-linked 5
GLikely pathogenic
RAB33A, AIFM1
(T282M +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GUncertain significance
AIFM1, RAB33A
(L187P +1 more)
Indel
(missense variant +1 more)
Deafness, X-linked 5
GLikely pathogenic
RAB33A, AIFM1
(A145V +1 more)
Single nucleotide variant
(missense variant +1 more)
Deafness, X-linked 5
GLikely pathogenic
AIFM1, LOC130068679
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Deafness, X-linked 5
GLikely 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
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