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Links from MedGen

Items: 1 to 100 of 3391

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Leigh syndrome
GLikely benign
SURF1
(M1V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Leigh syndrome
GPathogenic
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
(5 prime UTR variant +1 more)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous 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
(N69fs +1 more)
Duplication
(frameshift variant)
Leigh syndrome
GPathogenic
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant +1 more)
Leigh syndrome
+1 more
GLikely benign
LOC130002899, SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
(L68F)
Single nucleotide variant
(5 prime UTR variant +1 more)
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
Insertion
(intron variant)
Leigh syndrome
GLikely benign
LOC130002899, SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
(K194fs +1 more)
Deletion
(frameshift variant)
Leigh syndrome
GPathogenic
LOC130002899, SURF1
Single nucleotide variant
(intron 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
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
Deletion
(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
(synonymous 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
LOC130002899, SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
LOC130002899, SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
LOC130002899, SURF1
Deletion
(splice acceptor variant +1 more)
Leigh syndrome
GLikely pathogenic
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant +1 more)
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
(M1L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Leigh syndrome
GPathogenic
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous 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
LOC130002899, SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
(R14S +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Leigh syndrome
GLikely benign
SURF1
(Q8fs)
Duplication
(5 prime UTR variant +1 more)
Leigh syndrome
GPathogenic
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
LOC130002899, SURF1
Single nucleotide variant
(synonymous variant +1 more)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
LOC130002899, SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
GLikely benign
LOC130002899, SURF1
Single nucleotide variant
(splice donor variant)
Leigh syndrome
GLikely pathogenic
SURF1
(S49fs +1 more)
Duplication
(frameshift variant)
Leigh syndrome
GPathogenic
SURF1
Single nucleotide variant
(splice donor variant)
Leigh syndrome
GPathogenic
SURF1
Duplication
(intron variant)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Leigh syndrome
GLikely benign
SURF1
Single nucleotide variant
(synonymous variant +1 more)
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
(splice donor variant)
Leigh syndrome
GPathogenic
SURF1
Single nucleotide variant
(intron 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
Single nucleotide variant
(synonymous 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
(synonymous variant)
Leigh syndrome
GLikely benign
SURF1
(R179fs +1 more)
Duplication
(frameshift variant)
Leigh syndrome
GPathogenic
SURF1
Deletion
Leigh syndrome
GPathogenic
SURF1
(N160fs +1 more)
Duplication
(frameshift variant)
Leigh syndrome
GPathogenic
SURF1
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely benign
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