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Items: 1 to 100 of 343

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD1, ACP1
+1047 more
Copy number gain
See cases
GPathogenic
C2orf48, C2orf50
+893 more
Copy number gain
See cases
GPathogenic
ABCG5, ABCG8
+1631 more
Copy number gain
See cases
GPathogenic
ABCG5, ABCG8
+1400 more
Copy number gain
See cases
GPathogenic
LOC126806252, LOC126806253
+2457 more
Copy number gain
See cases
GBenign
TRY-GTA2-1, UBXN2A
+321 more
Copy number loss
See cases
GPathogenic
MPV17
Indel
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GPathogenic
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)
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)
+1 more
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)
+1 more
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
+1 more
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 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)
GUncertain significance
MPV17
Deletion
(splice acceptor variant)
not provided
GPathogenic
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)
+1 more
GUncertain significance
MPV17
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MPV17
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
MPV17
Single nucleotide variant
(3 prime UTR variant)
MPV17-related disorder
GLikely benign
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
(L176P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MPV17
(R175P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MPV17
(R175Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
(R175W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MPV17
(S170F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
(Y168C)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GLikely pathogenic
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
(N166K)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GPathogenic
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
(Q159fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
MPV17
(V157I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MPV17
Single nucleotide variant
(synonymous variant)
MPV17-related disorder
GLikely benign
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease, axonal, type 2EE
GLikely pathogenic
MPV17
Deletion
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Microsatellite
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Inversion
(intron variant)
not provided
GUncertain significance
MPV17
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, axonal, type 2EE
+2 more
GBenign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease, axonal, type 2EE
+1 more
GPathogenic/Likely pathogenic
MPV17
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease, axonal, type 2EE
GLikely pathogenic
MPV17
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
MPV17
(R154M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
MPV17
(R154T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
(H152Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MPV17
(L151fs)
Duplication
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MPV17
(L151F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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
GBenign
MPV17
(Y147C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
(L143*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
(P139fs)
Duplication
(frameshift variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GPathogenic
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
MPV17
Single nucleotide variant
(intron variant)
MPV17-related disorder
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPV17
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MPV17
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
MPV17
(Y136*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease, axonal, type 2EE
GPathogenic
MPV17
(Y136*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GLikely pathogenic
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