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Links from MedGen

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL2A1
(G516D +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Strudwick type
GLikely pathogenic
COL2A1
(G840S +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Strudwick type
GLikely pathogenic
COL2A1
(G282R +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Strudwick type
GLikely pathogenic
COL2A1
(G345R +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Strudwick type
GLikely pathogenic
COL2A1
(R1064C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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
(G348D +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
COL2A1
(G381R +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Strudwick type
GPathogenic
COL2A1
(G1116E +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Strudwick type
GPathogenic
COL2A1
(G525R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
COL2A1
(G654S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
COL2A1
(G1041S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
COL2A1
(R491P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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
(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
(E619K +1 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GConflicting classifications of pathogenicity
FN1, FN1-DT
(Q15L)
Single nucleotide variant
(missense variant)
Glomerulopathy with fibronectin deposits 2
+3 more
GBenign
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+16 more
GLikely benign
COL2A1
Single nucleotide variant
(synonymous variant)
Achondrogenesis type II
+19 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+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
Single nucleotide variant
(intron variant)
not provided
+19 more
GBenign/Likely benign
COL2A1
(T638I +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+19 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(synonymous variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+19 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(intron variant)
not specified
+19 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(synonymous variant)
COL2A1-related condition
+20 more
GBenign/Likely benign
COL2A1
(R923G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(G423V +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Strudwick type
GPathogenic
COL2A1
(G435C +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COL2A1
(G840C +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Strudwick type
GPathogenic
COL2A1
(G285R +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Strudwick type
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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