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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL9A3
(G17E)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+3 more
GBenign
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL9A3
Microsatellite
(inframe_deletion)
not provided
+2 more
GBenign/Likely benign
COL9A3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
COL9A3
(P37L)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL9A3
(G38A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
COL9A3
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
COL9A3
(K97N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(R103W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
COL9A3
(R103Q)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+2 more
GBenign
COL9A3
(P109S)
Single nucleotide variant
(missense variant)
COL9A3-related condition
+2 more
GBenign/Likely benign
COL9A3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
COL9A3
(G130S)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GConflicting classifications of pathogenicity
COL9A3
(L137P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
COL9A3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
COL9A3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
COL9A3
(R252Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
COL9A3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
COL9A3
Single nucleotide variant
(intron variant)
Connective tissue disorder
+2 more
GBenign
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL9A3
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
COL9A3
(A435E)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+3 more
GBenign
COL9A3, LOC126863084
(G460S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3, LOC126863084
(P476R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
COL9A3, LOC126863084
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
COL9A3, LOC126863084
(P513L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
COL9A3, LOC126863084
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
COL9A3, LOC126863084
(R524H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126863084, COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
COL9A3, LOC126863084
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL9A3, LOC126863084
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
COL9A3
(A576T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
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