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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COMP
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
COMP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
COMP
(E661K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COMP
(D496E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
COMP
(D408H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COMP
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COMP
(D319Y)
Indel
(missense variant)
not provided
GUncertain significance
COMP
(D290G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COMP
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
COMP
(A171T)
Single nucleotide variant
(missense variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+5 more
GBenign
COMP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
COMP
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
COMP
Single nucleotide variant
(intron variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+2 more
GConflicting classifications of pathogenicity
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