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Links from MedGen

Items: 1 to 100 of 310

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A46
Single nucleotide variant
(splice acceptor variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely pathogenic
SLC25A46
Single nucleotide variant
(splice donor variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely pathogenic
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(H111fs +1 more)
Duplication
(frameshift variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GPathogenic
SLC25A46
Single nucleotide variant
(splice donor variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely pathogenic
SLC25A46
(T71A)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(G11* +1 more)
Single nucleotide variant
(nonsense +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GPathogenic
SLC25A46
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(W69S)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GPathogenic
SLC25A46
Deletion
Neuropathy, hereditary motor and sensory, type 6B
GPathogenic
SLC25A46
Duplication
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(S411P +2 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(H298Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
SLC25A46
(G36R)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(D371E +2 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(H118Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(R157T +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(T321A +2 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(T257S +2 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(S255T +1 more)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(M123V +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(N54H)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(R31K)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(E21K)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(I49T)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(V43M)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(M163I +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(I313V +2 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(M56V +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(I131T +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Deletion
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GBenign
SLC25A46
(N142K +1 more)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(A241G +2 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(R19L)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(T133A +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(N417S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SLC25A46
(I30V +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
+1 more
GUncertain significance
SLC25A46
(A133V +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(P119L +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(Q192P +1 more)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Deletion
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GBenign
SLC25A46
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Duplication
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GBenign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GBenign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
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