U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL2A1
Single nucleotide variant
(intron variant)
Achondrogenesis type II
+16 more
GUncertain significance
COL2A1
Single nucleotide variant
(intron variant)
Spondyloepiphyseal dysplasia congenita
+16 more
GLikely benign
COL2A1
(R863Q +1 more)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia, Stanescu type
+16 more
GConflicting classifications of pathogenicity
COL2A1
(P884fs +1 more)
Deletion
(frameshift variant)
Legg-Calve-Perthes disease
+16 more
GPathogenic
COL2A1
(R586H +1 more)
Single nucleotide variant
(missense variant)
Legg-Calve-Perthes disease
+16 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
Legg-Calve-Perthes disease
+16 more
GLikely benign
COL2A1
Single nucleotide variant
(synonymous variant)
COL2A1-related disorder
+17 more
GLikely benign
COL2A1
Single nucleotide variant
(synonymous variant)
Multiple epiphyseal dysplasia, Beighton type
+16 more
GLikely benign
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+16 more
GLikely benign
COL2A1
(E1003K +1 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GUncertain significance
COL2A1
(A284T +1 more)
Single nucleotide variant
(missense variant)
not provided
+17 more
GConflicting classifications of pathogenicity
COL2A1
(E619K +1 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+16 more
GLikely benign
COL2A1
(G873V +1 more)
Single nucleotide variant
(missense variant)
Avascular necrosis of femoral head, primary, 1
+15 more
GUncertain significance
COL2A1
Single nucleotide variant
(synonymous variant)
Achondrogenesis type II
+19 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(synonymous variant)
not specified
+18 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(intron variant)
Achondrogenesis type II
+17 more
GBenign/Likely benign
COL2A1
(A302V +1 more)
Single nucleotide variant
(missense variant)
Spondyloperipheral dysplasia
+18 more
GPathogenic/Likely pathogenic
COL2A1
(P268L +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
+16 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(intron variant)
Connective tissue disorder
+19 more
GBenign/Likely benign
COL2A1
(V880M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
Translocation
Sensorineural hearing loss disorder
+4 more
GPathogenic
COL2A1
(T638I +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+19 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+19 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(intron variant)
not provided
+19 more
GBenign/Likely benign
COL2A1
(C86*)
Single nucleotide variant
(nonsense +1 more)
Achondrogenesis type II
+14 more
GPathogenic
COL2A1
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+20 more
GBenign/Likely benign
GNPTAB
(C505Y)
Single nucleotide variant
(missense variant)
Legg-Calve-Perthes disease
+3 more
GPathogenic/Likely pathogenic
COL2A1
(R584* +1 more)
Single nucleotide variant
(nonsense)
not provided
+14 more
GPathogenic
COL2A1
(G1170S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
COL2A1
(R920C +1 more)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia congenita
+14 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination