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Items: 1 to 100 of 143

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACY3, AIP
+206 more
Copy number loss
See cases
GLikely pathogenic
ACY3, AIP
+98 more
Copy number loss
See cases
GPathogenic
LOC112081413, NDUFS8
Single nucleotide variant
Leigh syndrome
+1 more
GUncertain significance
LOC112081413, NDUFS8
Single nucleotide variant
Mitochondrial complex I deficiency
+1 more
GUncertain significance
LOC112081413, NDUFS8
Single nucleotide variant
(5 prime UTR variant)
Leigh syndrome
+2 more
GBenign/Likely benign
LOC130006236, NDUFS8
Microsatellite
(5 prime UTR variant)
not specified
GLikely benign
LOC130006236, NDUFS8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTE1P, ANO1
+184 more
Copy number loss
See cases
GLikely pathogenic
NDUFS8
Single nucleotide variant
(intron variant)
not provided
GBenign
NDUFS8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFS8
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NDUFS8
(R2C)
Single nucleotide variant
(missense variant)
NDUFS8-related condition
+5 more
GConflicting classifications of pathogenicity
NDUFS8
(R2L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFS8
(R2H)
Single nucleotide variant
(missense variant)
Leigh syndrome
+1 more
GUncertain significance
NDUFS8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS8
(P7T)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type 1
+2 more
GConflicting classifications of pathogenicity
NDUFS8
(R11Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFS8
(R18H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
(R18L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NDUFS8
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NDUFS8
Single nucleotide variant
(intron variant)
not provided
GBenign
NDUFS8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFS8
(P22S)
Single nucleotide variant
(missense variant)
Leigh syndrome
+2 more
GUncertain significance
NDUFS8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS8
(S29G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
Single nucleotide variant
(intron variant)
not provided
GBenign
NDUFS8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MIR7113, NDUFS8
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
MIR7113, NDUFS8
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GLikely benign
MIR7113, NDUFS8
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDUFS8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS8
(E45K)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GUncertain significance
NDUFS8
(D53E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
(R54W)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GPathogenic
NDUFS8
(R54Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NDUFS8
(R57C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
(R57P)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GLikely pathogenic
NDUFS8
(R57H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NDUFS8
(T62S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
(E63Q)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GPathogenic
NDUFS8
Single nucleotide variant
(intron variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GUncertain significance
NDUFS8
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
NDUFS8
Single nucleotide variant
(intron variant)
Mitochondrial complex I deficiency, nuclear type 1
+3 more
GBenign
NDUFS8
Single nucleotide variant
(intron variant)
Mitochondrial complex I deficiency, nuclear type 1
+2 more
GConflicting classifications of pathogenicity
NDUFS8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFS8
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
NDUFS8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS8
(R77W)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
+1 more
GUncertain significance
NDUFS8
(P79L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
NDUFS8
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
NDUFS8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS8
(P85L)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GPathogenic
NDUFS8
Single nucleotide variant
(synonymous variant)
NDUFS8-related condition
+4 more
GConflicting classifications of pathogenicity
NDUFS8
(P90L)
Single nucleotide variant
(missense variant)
Leigh syndrome
+1 more
GUncertain significance
NDUFS8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS8
(E98K)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NDUFS8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS8
(A100V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NDUFS8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS8
(R102H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
(R103W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NDUFS8
(R103Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFS8
(P105S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NDUFS8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS8
(G107R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
(E109K)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GUncertain significance
NDUFS8
(R110C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
(R110H)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GUncertain significance
NDUFS8
(K115E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NDUFS8
(L116P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
(A123S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NDUFS8
(Q124R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
Single nucleotide variant
(splice donor variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GLikely pathogenic
NDUFS8
Single nucleotide variant
(intron variant)
not specified
GLikely benign
NDUFS8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFS8
Single nucleotide variant
(intron variant)
not provided
GBenign
NDUFS8
Duplication
(intron variant)
not provided
GBenign
NDUFS8
Deletion
(intron variant)
not provided
GBenign
NDUFS8
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NDUFS8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFS8
(T127I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
(I128M)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GUncertain significance
NDUFS8
(E131G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFS8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS8
(R138C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
(R138H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
(R139W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFS8
(R139Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS8
(Y143F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NDUFS8
(D146N)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NDUFS8
(M147I)
Single nucleotide variant
(missense variant)
Leigh syndrome
+1 more
GLikely pathogenic
NDUFS8
(Y152H)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
NDUFS8
(C153R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
Single nucleotide variant
(synonymous variant)
Mitochondrial complex I deficiency, nuclear type 1
+2 more
GConflicting classifications of pathogenicity
NDUFS8
(G154S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
(A159D)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GPathogenic
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