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Links from MedGen

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Charcot-Marie-Tooth disease, axonal, type 2EE
GLikely pathogenic
TFAM
(E148fs)
Deletion
(frameshift variant +1 more)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
GLikely pathogenic
TFAM
(A105T)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
GUncertain significance
TFAM
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
+1 more
GConflicting classifications of pathogenicity
MPV17
(S25Y)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
GUncertain significance
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+1 more
GConflicting classifications of pathogenicity
MPV17
(R41Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, type 2EE
+3 more
GPathogenic/Likely pathogenic
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MPV17
(P64R)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+3 more
GPathogenic/Likely pathogenic
MPV17
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+1 more
GUncertain significance
MPV17
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+1 more
GUncertain significance
MPV17
(V55A)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+2 more
GConflicting classifications of pathogenicity
MPV17
(R125W)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+3 more
GUncertain significance
MPV17
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GUncertain significance
MPV17
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
+1 more
GUncertain significance
MPV17
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GUncertain significance
MPV17
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+1 more
GUncertain significance
MPV17
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+1 more
GUncertain significance
TFAM
(P178L)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
GLikely pathogenic
MPV17
(V66L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129933372, MPV17
(Y7C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MPV17
(L151fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
MPV17
(W69*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+3 more
GPathogenic/Likely pathogenic
MPV17
(R50W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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