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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSG, LOC130061524
(S202I +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ARSG, LOC130061524
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARSG, LOC130061524
(T228I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARSG, LOC130061524
(Q213H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARSG, LOC130061524
(R217C +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ARSG, LOC130061524
(R217H +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ARSG, LOC130061524
(S219fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
ARSG, LOC130061524
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
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