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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL9A2
(V658M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
COL9A2
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
COL9A2
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
COL9A2
(V585M)
Single nucleotide variant
(missense variant)
COL9A2-related condition
+2 more
GConflicting classifications of pathogenicity
COL9A2
(N503fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
COL9A2
(Q467R)
Single nucleotide variant
(missense variant)
COL9A2-related condition
+4 more
GConflicting classifications of pathogenicity
COL9A2
(P228S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL9A2
(P153L)
Single nucleotide variant
(missense variant)
Epiphyseal dysplasia, multiple, 2
+3 more
GConflicting classifications of pathogenicity
COL9A2
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL9A2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
COL9A2
(P73S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
COL9A2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
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