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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COMP
(G719D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COMP
(G719S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
COMP
(H587R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
COMP
(T585M)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COMP
(T585R)
Single nucleotide variant
(missense variant)
Carpal tunnel syndrome 2
+2 more
GPathogenic
COMP
(T585K)
Single nucleotide variant
(missense variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Gnot provided
COMP
(E583K)
Single nucleotide variant
(missense variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Gnot provided
COMP
(T529I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COMP
Microsatellite
(inframe_insertion)
not provided
+1 more
GPathogenic/Likely pathogenic
COMP
(D473del)
Microsatellite
(inframe_deletion)
not provided
+2 more
GPathogenic
COMP
(N386D)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GBenign
COMP
(D385N)
Single nucleotide variant
(missense variant)
Carpal tunnel syndrome 2
+3 more
GPathogenic/Likely pathogenic
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