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Items: 1 to 100 of 202

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC130009126, LOC130009127
+906 more
Copy number gain
See cases
GPathogenic
LOC130009192, LOC130009193
+892 more
Copy number gain
See cases
GPathogenic
LOC132090050, LOC132090051
+786 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+663 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+416 more
Copy number loss
See cases
GPathogenic
AACS, ABCB9
+330 more
Copy number loss
See cases
GPathogenic
AACS, ATP6V0A2
+292 more
Copy number loss
See cases
GPathogenic
LOC129390584, LOC130009080
+45 more
Copy number gain
Autism spectrum disorder
GUncertain significance
MPHOSPH9, MTRFR
Single nucleotide variant
(genic upstream transcript variant)
Combined oxidative phosphorylation defect type 7
GUncertain significance
MPHOSPH9, MTRFR
Single nucleotide variant
(genic upstream transcript variant)
Combined oxidative phosphorylation defect type 7
GUncertain significance
MPHOSPH9, MTRFR
Single nucleotide variant
(genic upstream transcript variant)
Combined oxidative phosphorylation defect type 7
GUncertain significance
MPHOSPH9, MTRFR
Single nucleotide variant
(genic upstream transcript variant)
Combined oxidative phosphorylation defect type 7
GUncertain significance
MPHOSPH9, MTRFR
Single nucleotide variant
(5 prime UTR variant)
Combined oxidative phosphorylation defect type 7
GUncertain significance
MPHOSPH9, MTRFR
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
MTRFR
Deletion
(splice acceptor variant +2 more)
Neurodevelopmental disorder
GPathogenic
MTRFR
Single nucleotide variant
(intron variant)
not provided
GBenign
MTRFR
Single nucleotide variant
(5 prime UTR variant)
MTRFR-related disorder
GLikely benign
MTRFR
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 7
+1 more
GLikely benign
MTRFR
(L6fs)
Deletion
(frameshift variant)
Hereditary motor and sensory neuropathy with optic atrophy
GLikely pathogenic
MTRFR
(H8D)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
MTRFR
(F9S)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
MTRFR
(T11I)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 7
+1 more
GUncertain significance
MTRFR
(P12fs)
Duplication
(frameshift variant)
Spastic paraplegia
+1 more
GPathogenic
MTRFR
(P12S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MTRFR
(T14I)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 7
+1 more
GUncertain significance
MTRFR
(R15*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
MTRFR
(R15Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+4 more
GBenign
MTRFR
(I16T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTRFR
(P18L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MTRFR
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
MTRFR
(A19V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MTRFR
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GLikely benign
MTRFR
(R24L)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
MTRFR
(R24Q)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
MTRFR
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 7
+1 more
GConflicting classifications of pathogenicity
MTRFR
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GLikely benign
MTRFR
(P34fs)
Duplication
(frameshift variant)
Combined oxidative phosphorylation defect type 7
+3 more
GPathogenic
MTRFR
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GLikely benign
MTRFR
(G35D)
Indel
(missense variant)
Combined oxidative phosphorylation defect type 7
+1 more
GUncertain significance
MTRFR
(A37V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
MTRFR
(V38I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MTRFR
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+2 more
GLikely benign
MTRFR
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 7
+1 more
GLikely benign
MTRFR
(M43fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 55
GPathogenic
MTRFR
(D48fs)
Duplication
(frameshift variant)
Combined oxidative phosphorylation defect type 7
+1 more
GPathogenic
MTRFR
(K47del)
Microsatellite
(inframe_deletion)
Combined oxidative phosphorylation defect type 7
+1 more
GUncertain significance
MTRFR
(K46E)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 7
+1 more
GUncertain significance
MTRFR
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GLikely benign
MTRFR
(S54P)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
MTRFR
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MTRFR
(D56H)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
MTRFR
(E61K)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
MTRFR
(V65fs)
Insertion
(frameshift variant)
Combined oxidative phosphorylation defect type 7
+1 more
GPathogenic
MTRFR
(F64S)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
MTRFR
(V65A)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 7
+1 more
GUncertain significance
MTRFR
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 7
+1 more
GLikely benign
MTRFR
(P70fs)
Deletion
(frameshift variant)
Combined oxidative phosphorylation defect type 7
GPathogenic
MTRFR
(G69S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTRFR
(G72fs)
Deletion
(frameshift variant)
Combined oxidative phosphorylation defect type 7
+2 more
GPathogenic/Likely pathogenic
MTRFR
(G71A)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+1 more
GUncertain significance
MTRFR
(G72A)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 55
GUncertain significance
MTRFR
(K77E)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
MTRFR
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 7
+3 more
GConflicting classifications of pathogenicity
MTRFR
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 7
+4 more
GConflicting classifications of pathogenicity
MTRFR
(V82L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTRFR
(V82M)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
MTRFR
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
MTRFR
(V83fs)
Deletion
(frameshift variant)
Combined oxidative phosphorylation defect type 7
+2 more
GPathogenic/Likely pathogenic
MTRFR
(H86D)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 7
+1 more
GUncertain significance
MTRFR
(H86L)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 7
+1 more
GUncertain significance
MTRFR
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 7
+1 more
GLikely benign
MTRFR
(I87fs)
Deletion
(frameshift variant)
not provided
GPathogenic
MTRFR
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GLikely benign
MTRFR
(G90D)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
MTRFR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
MTRFR
(V92I)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 7
+1 more
GUncertain significance
MTRFR
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 7
+1 more
GLikely benign
MTRFR
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 55
GPathogenic
MTRFR
Single nucleotide variant
(intron variant)
Spastic paraplegia
+1 more
GLikely benign
MTRFR
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 7
+1 more
GLikely benign
MTRFR
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 7
+1 more
GLikely benign
MTRFR
Single nucleotide variant
(intron variant)
not provided
GBenign
MTRFR
Single nucleotide variant
(intron variant)
not provided
GBenign
MTRFR
Duplication
(intron variant)
Spastic paraplegia
+2 more
GLikely benign
MTRFR
Microsatellite
(intron variant)
Spastic paraplegia
+1 more
GLikely benign
MTRFR
Single nucleotide variant
(intron variant)
Spastic paraplegia
+1 more
GLikely benign
MTRFR
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 7
+1 more
GLikely benign
MTRFR
Microsatellite
(intron variant)
Combined oxidative phosphorylation defect type 7
+1 more
GLikely benign
MTRFR
Single nucleotide variant
(intron variant)
Spastic paraplegia
+1 more
GLikely benign
MTRFR
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
MTRFR
(C95R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MTRFR
(T98P)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 7
GUncertain significance
MTRFR
(R99K)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
MTRFR
(R99S)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
MTRFR
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 7
+1 more
GLikely benign
MTRFR
(D102N)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 7
GUncertain significance
MTRFR
(Q103fs)
Deletion
(frameshift variant)
Spastic paraplegia
+1 more
GPathogenic
MTRFR
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+3 more
GBenign/Likely benign
MTRFR
(R109W)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 7
+1 more
GUncertain significance
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