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Links from MedGen

Items: 1 to 100 of 125

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL2A1
(G1077A +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
GLikely pathogenic
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)
Stickler syndrome type 1
+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)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(intron variant)
Stickler syndrome type 1
+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
(P970L +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+3 more
GConflicting classifications of pathogenicity
COL2A1
(P952T +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+2 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(synonymous variant)
COL2A1-related disorder
+4 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+3 more
GConflicting classifications of pathogenicity
COL2A1
(A184T +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+3 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
Achondrogenesis type II
+19 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(intron variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
(A302V +1 more)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia congenita
+18 more
GPathogenic/Likely pathogenic
COL2A1
(P434S +1 more)
Single nucleotide variant
(missense variant)
COL2A1-related disorder
+4 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
Type II Collagenopathies
+4 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(genic upstream transcript variant)
not provided
+2 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(5 prime UTR variant)
Stickler syndrome type 1
+2 more
GBenign
COL2A1
Single nucleotide variant
(5 prime UTR variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(synonymous variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
(A6D)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+3 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(intron variant)
Stickler syndrome type 1
+2 more
GUncertain significance
COL2A1
Single nucleotide variant
(intron variant)
Connective tissue disorder
+4 more
GBenign
COL2A1
Single nucleotide variant
(intron variant)
Type II Collagenopathies
+3 more
GBenign/Likely benign
COL2A1
(P268L +1 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GConflicting classifications of pathogenicity
COL2A1
(T335S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL2A1
(P350L +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(synonymous variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(intron variant)
Connective tissue disorder
+3 more
GConflicting classifications of pathogenicity
COL2A1
(V500I +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(intron variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(intron variant)
COL2A1-related disorder
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(intron variant)
not provided
+19 more
GBenign/Likely benign
COL2A1
(A761T +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(intron variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
COL2A1
(R940Q +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome, type I, nonsyndromic ocular
+3 more
GConflicting classifications of pathogenicity
COL2A1
(R1016K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL2A1
(A1051T +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
COL2A1
(T1082A +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
+2 more
GUncertain significance
COL2A1
Single nucleotide variant
(intron variant)
Stickler syndrome type 1
+2 more
GBenign/Likely benign
COL2A1
(P1165L +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
(M1220T +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
(G1246S +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
COL2A1
(R1270C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COL2A1
(V1373I +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
(N1417S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL2A1
(R1422W +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
(R1459C +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Connective tissue disorder
+4 more
GBenign
COL2A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GLikely benign
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Type II Collagenopathies
+2 more
GBenign
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Stickler syndrome type 1
+2 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
(synonymous variant)
Stickler syndrome type 1
+4 more
GConflicting classifications of pathogenicity
COL2A1
(N545S +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant +1 more)
Stickler syndrome type 1
+4 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
COL2A1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
COL2A1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
COL2A1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
COL2A1
(E142D +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+4 more
GBenign
COL2A1
(G1405S +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
COL2A1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
COL2A1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
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