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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPS, LOC129935172
Deletion
(5 prime UTR variant)
not provided
GUncertain significance
AGPS, LOC129935172
(E3K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGPS, LOC129935172
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
AGPS
(T72A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
AGPS
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
AGPS
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
AGPS
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
AGPS
Single nucleotide variant
(intron variant)
Rhizomelic chondrodysplasia punctata type 3
+2 more
GLikely benign
AGPS
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
AGPS
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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