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Items: 1 to 100 of 647

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SURF1
Single nucleotide variant
not provided
GBenign
SURF1
Variation
not provided
GBenign
SURF1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SURF1
Single nucleotide variant
(3 prime UTR variant)
Leigh syndrome
GUncertain significance
SURF1
Single nucleotide variant
(3 prime UTR variant)
Leigh syndrome
+1 more
GConflicting classifications of pathogenicity
SURF1
Single nucleotide variant
(stop lost)
Leigh syndrome
GUncertain significance
SURF1
Single nucleotide variant
(stop lost)
Leigh syndrome
GUncertain significance
SURF1
(V191fs +1 more)
Microsatellite
(frameshift variant)
Mitochondrial complex IV deficiency, nuclear type 1
GLikely pathogenic
SURF1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
SURF1
(V191M +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
+1 more
GUncertain significance
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
(V300fs +1 more)
Deletion
(frameshift variant)
Leigh syndrome
+1 more
GUncertain significance
SURF1
(P189L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SURF1
(P298R +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
+1 more
GUncertain significance
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
(T297P +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
+1 more
GConflicting classifications of pathogenicity
SURF1
(R186H +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
(R186L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SURF1
(R295C +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
(F184L +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SURF1
(K182* +1 more)
Duplication
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic
SURF1
(F290fs +1 more)
Deletion
(frameshift variant)
Leigh syndrome
+1 more
GPathogenic/Likely pathogenic
SURF1
(W180* +1 more)
Single nucleotide variant
(nonsense)
Leigh syndrome
GPathogenic
SURF1
(W289G +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
(L288Q +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
(S177P +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex IV deficiency, nuclear type 1
GLikely pathogenic
SURF1
(S177A +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
(A284P +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
(A175T +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
(A174T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
(S282fs +1 more)
Microsatellite
(frameshift variant)
Leigh syndrome
+10 more
GPathogenic
SURF1
(S282C +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
(L172R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SURF1
(L172fs +1 more)
Duplication
(frameshift variant)
Leigh syndrome
GPathogenic
SURF1
(Y279F +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
(Y279C +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
(W169* +1 more)
Single nucleotide variant
(nonsense)
Leigh syndrome
GPathogenic
SURF1
Duplication
(intron variant)
Leigh syndrome
GBenign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Duplication
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
not provided
GBenign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
+1 more
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Deletion
(intron variant)
Leigh syndrome
GBenign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Deletion
(splice donor variant)
not provided
GPathogenic
SURF1
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SURF1
Insertion
(splice donor variant)
Leigh syndrome
GLikely pathogenic
SURF1
Deletion
(splice donor variant)
Mitochondrial complex IV deficiency, nuclear type 1
GLikely pathogenic
SURF1
Single nucleotide variant
(splice donor variant)
Leigh syndrome
GPathogenic/Likely pathogenic
SURF1
Single nucleotide variant
(splice donor variant)
Mitochondrial complex IV deficiency, nuclear type 1
+3 more
GPathogenic
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
(V167fs +1 more)
Deletion
(frameshift variant)
Mitochondrial complex IV deficiency, nuclear type 1
GPathogenic
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
(V167A +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
Duplication
(inframe_insertion)
Leigh syndrome
GConflicting classifications of pathogenicity
SURF1
(V276fs +1 more)
Duplication
(frameshift variant)
Leigh syndrome
GPathogenic
SURF1
(V276M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SURF1
(V167fs +1 more)
Duplication
(frameshift variant)
Leigh syndrome
GPathogenic
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
+1 more
GLikely benign
SURF1
(I275V +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
(I166F +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
(I166L +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
Duplication
(inframe_insertion)
not provided
+2 more
GLikely pathogenic
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
(Y165C +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GPathogenic
SURF1
(Y274D +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex IV deficiency, nuclear type 1
GPathogenic
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