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Links from MedGen

Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPV17
(Y168C)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GLikely pathogenic
Charcot-Marie-Tooth disease, axonal, type 2EE
GLikely pathogenic
MPV17, UCN
(Y70*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+1 more
GPathogenic
MPV17
(M54V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MPV17
(G94E)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
(Y135*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
MPV17
(A130P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, axonal, type 2EE
+2 more
GBenign
MPV17
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+2 more
GBenign/Likely benign
MPV17
(L143*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
MPV17
(Q93*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GPathogenic
MPV17
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GLikely benign
MPV17
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
(R75G)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MPV17
(Y136*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GLikely pathogenic
MPV17
(V66E)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
(Q44*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GLikely pathogenic
MPV17
(Q36P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GConflicting classifications of pathogenicity
MPV17
(L21R)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
(Q93P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+1 more
GPathogenic/Likely pathogenic
MPV17
(A23P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GLikely pathogenic
MPV17
Single nucleotide variant
(splice donor variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GPathogenic
MPV17
(P139fs)
Duplication
(frameshift variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GPathogenic
MPV17
(Y135N)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
(R41Q)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome
+3 more
GPathogenic/Likely pathogenic
MPV17
(G95S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, type 2EE
+2 more
GUncertain significance
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MPV17
(L151F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MPV17
Indel
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GPathogenic
MPV17
Single nucleotide variant
(splice acceptor variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GPathogenic
MPV17
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
MPV17
(P98fs)
Deletion
(frameshift variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+1 more
GPathogenic
MPV17
(C99*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GLikely pathogenic
MPV17
(G95D)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
(D92G)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GLikely pathogenic
MPV17
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
MPV17
(R154M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
MPV17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely pathogenic
MPV17
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+1 more
GBenign
MPV17
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+1 more
GConflicting classifications of pathogenicity
MPV17
(P64R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, type 2EE
+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 15 (hepatocerebral type)
+1 more
GUncertain significance
MPV17
(V55A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MPV17
(R125W)
Single nucleotide variant
(missense 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)
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
MPV17
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome
+1 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 15 (hepatocerebral type)
+1 more
GUncertain significance
MPV17
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
+1 more
GUncertain significance
MPV17
Duplication
(splice acceptor variant)
Charcot-Marie-Tooth disease, axonal, type 2EE
+2 more
GConflicting classifications of pathogenicity
MPV17
(L21V)
Single nucleotide variant
(missense variant)
MPV17-related condition
+1 more
GConflicting classifications of pathogenicity
MPV17
(T80I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MPV17
(Q36*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease, axonal, type 2EE
+1 more
GConflicting classifications of pathogenicity
MPV17
(E45fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease, axonal, type 2EE
+2 more
GPathogenic/Likely pathogenic
MPV17
(R41W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, type 2EE
+2 more
GConflicting classifications of pathogenicity
MPV17
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome
+4 more
GConflicting classifications of pathogenicity
MPV17
(S170F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MPV17
(L151fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease, axonal, type 2EE
+2 more
GConflicting classifications of pathogenicity
MPV17
(P98L)
Single nucleotide variant
(missense variant)
MPV17-Related Disorders
+4 more
GPathogenic
MPV17
(L91del)
Microsatellite
(inframe_deletion)
not provided
+3 more
GConflicting classifications of pathogenicity
MPV17
(K88del)
Microsatellite
(inframe_deletion)
not provided
+2 more
GPathogenic/Likely pathogenic
MPV17
Deletion
(inframe_deletion)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
(W69*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease, axonal, type 2EE
+3 more
GPathogenic/Likely pathogenic
MPV17
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MPV17
Indel
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GPathogenic
MPV17
(G24W)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GUncertain significance
MPV17
(W120*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
MPV17
(R41fs)
Deletion
(frameshift variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GPathogenic
MPV17
(R50W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MPV17
(N166K)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GPathogenic
MPV17
(R50Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
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