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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SURF1, SURF2
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
SURF1, SURF2
(H15Y)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SURF2, LOC130002900
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130002900, SURF1
+1 more
(R25C)
Single nucleotide variant
(missense variant)
not provided
GBenign
LOC130002900, SURF1
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SURF1, SURF2
Microsatellite
(intron variant)
not provided
GLikely benign
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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