U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL9A3
(G145*)
Single nucleotide variant
(nonsense)
Epiphyseal dysplasia, multiple, 3
GLikely pathogenic
COL9A3
(R577*)
Single nucleotide variant
(nonsense)
Epiphyseal dysplasia, multiple, 3
+3 more
GPathogenic/Likely pathogenic
COL9A3
Single nucleotide variant
(splice donor variant)
Epiphyseal dysplasia, multiple, 3
GPathogenic
COL9A3
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
COL9A3
(P592L)
Single nucleotide variant
(missense variant)
Epiphyseal dysplasia, multiple, 3
+2 more
GUncertain significance
COL9A3
(P73L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
COL9A3, LOC126863084
(G484S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
COL9A3
(G636S)
Single nucleotide variant
(missense variant)
Epiphyseal dysplasia, multiple, 3
+2 more
GUncertain significance
COL9A3
(E640K)
Single nucleotide variant
(missense variant)
Intervertebral disc disorder
+3 more
GBenign/Likely benign
COL9A3, LOC126863084
(P516L)
Single nucleotide variant
(missense variant)
Epiphyseal dysplasia, multiple, 3
+2 more
GUncertain significance
COL9A3, LOC126863084
Single nucleotide variant
(intron variant)
Epiphyseal dysplasia, multiple, 3
+2 more
GLikely benign
COL9A3
Single nucleotide variant
(intron variant)
Intervertebral disc disorder
+2 more
GLikely benign
COL9A3
(G133S)
Single nucleotide variant
(missense variant)
Epiphyseal dysplasia, multiple, 3
GUncertain significance
COL9A3
(F251L)
Single nucleotide variant
(missense variant)
Epiphyseal dysplasia, multiple, 3
+1 more
GUncertain significance
COL9A3
Single nucleotide variant
(splice acceptor variant)
Epiphyseal dysplasia, multiple, 3
GLikely pathogenic
COL9A3, LOC126863084
Deletion
(inframe_deletion)
Inborn genetic diseases
+2 more
GUncertain significance
COL9A3
(G680fs)
Duplication
(frameshift variant)
Epiphyseal dysplasia, multiple, 3
GUncertain significance
COL9A3
(R234*)
Single nucleotide variant
(nonsense)
Epiphyseal dysplasia, multiple, 3
+2 more
GConflicting classifications of pathogenicity
COL9A3
(D663N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL9A3
(P417A)
Single nucleotide variant
(missense variant)
Epiphyseal dysplasia, multiple, 3
GUncertain significance
COL9A3
(G307D)
Single nucleotide variant
(missense variant)
Epiphyseal dysplasia, multiple, 3
GUncertain significance
COL9A3
Single nucleotide variant
(intron variant)
Epiphyseal dysplasia, multiple, 3
GLikely pathogenic
COL9A3
(G130S)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GConflicting classifications of pathogenicity
COL9A3
(A169T)
Single nucleotide variant
(missense variant)
Intervertebral disc disorder
+2 more
GUncertain significance
COL9A3
(R583C)
Single nucleotide variant
(missense variant)
Intervertebral disc disorder
+3 more
GUncertain significance
COL9A3
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
Intervertebral disc disorder
+2 more
GBenign/Likely benign
COL9A3
Single nucleotide variant
(intron variant)
Epiphyseal dysplasia, multiple, 3
+2 more
GBenign/Likely benign
COL9A3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
COL9A3
Single nucleotide variant
(intron variant)
Epiphyseal dysplasia, multiple, 3
+3 more
GBenign/Likely benign
COL9A3
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
COL9A3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
COL9A3
Single nucleotide variant
(intron variant)
Epiphyseal dysplasia, multiple, 3
+2 more
GBenign
COL9A3
(A435E)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+3 more
GBenign
COL9A3
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
COL9A3
(G17E)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+3 more
GBenign
COL9A3
Single nucleotide variant
(intron variant)
Epiphyseal dysplasia, multiple, 3
GPathogenic
COL9A3
Single nucleotide variant
(splice acceptor variant)
Epiphyseal dysplasia, multiple, 3
GPathogenic
Format
Items per page
Sort by
Choose Destination