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Links from MedGen

Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL2A1
Deletion
(inframe_indel)
Spondyloperipheral dysplasia
GUncertain significance
COL2A1
(G1086S +1 more)
Single nucleotide variant
(missense variant)
Spondyloperipheral dysplasia
GPathogenic
COL2A1
(G792R +1 more)
Single nucleotide variant
(missense variant)
Spondyloperipheral dysplasia
GLikely pathogenic
COL2A1
(R140Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL2A1
(G456S +1 more)
Single nucleotide variant
(missense variant)
Kniest dysplasia
+5 more
GLikely pathogenic
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
(splice acceptor variant)
Spondyloperipheral dysplasia
GLikely pathogenic
COL2A1
(G183S +1 more)
Single nucleotide variant
(missense variant)
Spondyloperipheral dysplasia
GUncertain significance
COL2A1
(G295C +1 more)
Single nucleotide variant
(missense variant)
Spondyloperipheral dysplasia
GLikely pathogenic
COL2A1
Single nucleotide variant
(splice acceptor variant)
Spondyloperipheral dysplasia
GPathogenic
COL2A1
(A772V +1 more)
Single nucleotide variant
(missense variant)
Spondyloperipheral dysplasia
GUncertain significance
COL2A1
(G1409S +1 more)
Single nucleotide variant
(missense variant)
Spondyloperipheral dysplasia
+1 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(splice donor variant)
Spondyloperipheral dysplasia
GPathogenic
COL2A1
(R149H +1 more)
Single nucleotide variant
(missense variant)
Spondyloperipheral dysplasia
+2 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)
Legg-Calve-Perthes disease
+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
(G861S +1 more)
Single nucleotide variant
(missense variant)
Spondyloperipheral dysplasia
+1 more
GLikely pathogenic
COL2A1
(G375D +1 more)
Single nucleotide variant
(missense variant)
Spondyloperipheral dysplasia
GLikely pathogenic
COL2A1
(E1003K +1 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GUncertain significance
COL2A1
(A284T +1 more)
Single nucleotide variant
(missense variant)
Legg-Calve-Perthes disease
+17 more
GConflicting classifications of pathogenicity
COL2A1
(G396S +1 more)
Single nucleotide variant
(missense variant)
Spondyloperipheral dysplasia
GLikely pathogenic
COL2A1
(E619K +1 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(splice acceptor variant)
Spondyloperipheral dysplasia
GLikely pathogenic
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)
Achondrogenesis type II
+18 more
GPathogenic/Likely pathogenic
COL2A1
(P268L +1 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(intron variant)
not provided
+19 more
GBenign/Likely benign
COL2A1
(V880M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(G1104E +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
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 specified
+19 more
GBenign/Likely benign
COL2A1
(G504S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
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
COL2A1
(R584* +1 more)
Single nucleotide variant
(nonsense)
Achondrogenesis type II
+14 more
GPathogenic
COL2A1
(C1438* +1 more)
Single nucleotide variant
(nonsense)
Spondyloperipheral dysplasia
GPathogenic
COL2A1
(G1377fs +1 more)
Deletion
(frameshift variant)
Stickler syndrome, type I, nonsyndromic ocular
GUncertain significance
COL2A1
(Y1391C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
COL2A1
(T1370M +1 more)
Single nucleotide variant
(missense variant)
Spondyloperipheral dysplasia
+2 more
GConflicting classifications of pathogenicity
COL2A1
(Y1362fs +1 more)
Duplication
(frameshift variant)
Spondyloperipheral dysplasia
GPathogenic
COL2A1
(R920C +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis type II
+14 more
GPathogenic/Likely pathogenic
COL2A1
(G1128S +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Strudwick type
+7 more
GPathogenic/Likely pathogenic
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