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Links from MedGen

Items: 1 to 100 of 258

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL2A1
Single nucleotide variant
(splice acceptor variant)
Stickler syndrome type 1
GPathogenic
COL2A1
Deletion
(splice acceptor variant)
Stickler syndrome type 1
GPathogenic
COL2A1
(G123fs +1 more)
Deletion
(frameshift variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(G1053fs +1 more)
Duplication
(frameshift variant)
Stickler syndrome type 1
GPathogenic
COL2A1
Deletion
(splice donor variant)
Stickler syndrome type 1
GPathogenic
COL2A1
Indel
(intron variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
Deletion
(inframe_deletion)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(G720S +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
+1 more
GConflicting classifications of pathogenicity
COL2A1
(Q152* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(splice donor variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(G351* +1 more)
Single nucleotide variant
(nonsense)
Stickler syndrome type 1
GPathogenic
COL2A1
(G102fs +1 more)
Deletion
(frameshift variant)
Stickler syndrome type 1
GPathogenic
COL2A1
Single nucleotide variant
(splice acceptor variant)
Stickler syndrome type 1
GPathogenic
COL2A1
(Q905fs +1 more)
Deletion
(frameshift variant)
Stickler syndrome type 1
GPathogenic
COL2A1
(E397* +1 more)
Single nucleotide variant
(nonsense)
Stickler syndrome type 1
GPathogenic
COL2A1
Single nucleotide variant
(splice acceptor variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(P286fs +1 more)
Deletion
(frameshift variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(E130* +1 more)
Single nucleotide variant
(nonsense)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
Single nucleotide variant
(splice donor variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(Q587* +1 more)
Single nucleotide variant
(nonsense)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
Deletion
(splice donor variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(splice donor variant)
Stickler syndrome type 1
GPathogenic
COL2A1
(G1293fs +1 more)
Deletion
(frameshift variant)
Stickler syndrome type 1
GPathogenic
COL2A1
Single nucleotide variant
(splice acceptor variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(K121fs +1 more)
Deletion
(frameshift variant)
Stickler syndrome type 1
GPathogenic
COL2A1
(P721fs +1 more)
Deletion
(frameshift variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(G177V +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
GPathogenic
COL2A1
(G429R +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
GPathogenic
COL2A1
(Y1322H +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
GPathogenic
COL2A1
(G426E +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(G480D +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
Deletion
(inframe_deletion)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(G771D +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(R1064C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(intron variant)
Spondyloepiphyseal dysplasia congenita
+16 more
GUncertain significance
COL2A1
Single nucleotide variant
(intron variant)
not provided
+16 more
GLikely benign
COL2A1
(R863Q +1 more)
Single nucleotide variant
(missense variant)
Legg-Calve-Perthes disease
+16 more
GConflicting classifications of pathogenicity
COL2A1
(G801E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL2A1
(P884fs +1 more)
Deletion
(frameshift variant)
not provided
+16 more
GPathogenic
COL2A1
(P740fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
COL2A1
(P505S +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
+2 more
GConflicting classifications of pathogenicity
COL2A1
(D1150N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL2A1
(R586H +1 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GConflicting classifications of pathogenicity
COL2A1
Deletion
(splice donor variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(Q1025* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
COL2A1
(P838S +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
GUncertain significance
COL2A1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
COL2A1
Single nucleotide variant
(splice donor variant)
Stickler syndrome type 1
GPathogenic
COL2A1
Duplication
(intron variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
Single nucleotide variant
(splice donor variant)
Stickler syndrome type 1
GPathogenic
COL2A1
(G288fs +1 more)
Duplication
(frameshift variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(W1230* +1 more)
Single nucleotide variant
(nonsense)
COL2A1-related condition
+2 more
GPathogenic
COL2A1
(R491P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(P796fs +1 more)
Deletion
(frameshift variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(G540V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
COL2A1
(G753S +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
Microsatellite
(inframe_deletion)
not provided
GLikely pathogenic
COL2A1
Deletion
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL2A1
(E1021fs +1 more)
Indel
(frameshift variant)
Stickler syndrome type 1
GPathogenic
COL2A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(synonymous variant)
Legg-Calve-Perthes disease
+16 more
GLikely benign
COL2A1
Single nucleotide variant
(synonymous variant)
Achondrogenesis type II
+17 more
GLikely benign
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+16 more
GLikely benign
COL2A1
Single nucleotide variant
(synonymous variant)
Achondrogenesis type II
+16 more
GLikely benign
COL2A1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
COL2A1
(G1095S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
COL2A1
(G867S +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
+1 more
GConflicting classifications of pathogenicity
COL2A1
(G615C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL2A1
(E1003K +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis type II
+16 more
GUncertain significance
COL2A1
(A284T +1 more)
Single nucleotide variant
(missense variant)
COL2A1-related condition
+17 more
GConflicting classifications of pathogenicity
COL2A1
(G618S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL2A1
Deletion
(splice donor variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(A826fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
COL2A1
(D1165E +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
+1 more
GUncertain significance
COL2A1
(E619K +1 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
Stickler syndrome type 1
+2 more
GConflicting classifications of pathogenicity
COL2A1
(P191S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL2A1
(Y1238S +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
+3 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Stickler syndrome type 1
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Stickler syndrome type 1
+1 more
GUncertain significance
COL2A1
(G102R +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(intron variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(intron variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(synonymous variant)
Type II Collagenopathies
+3 more
GConflicting classifications of pathogenicity
COL2A1
(G102V +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+2 more
GUncertain significance
COL2A1
(T380A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
COL2A1
(T878I +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
(A1034G +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+3 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(intron variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
(P1483L +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(intron variant)
Stickler syndrome type 1
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL2A1
(V1100I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL2A1
(N1365Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
COL2A1
(P970L +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+3 more
GConflicting classifications of pathogenicity
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