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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCF1, LOC100130987
(G221fs +1 more)
Deletion
(frameshift variant)
not specified
+1 more
GBenign
CLCF1, LOC100130987
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLCF1, LOC100130987
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLCF1, LOC100130987
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLCF1, LOC100130987
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLCF1, LOC100130987
(R30C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CLCF1, LOC100130987
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ACTN3, ACY3
+124 more
Duplication
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
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