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Links from MedGen

Items: 1 to 100 of 185

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL11A2
(T1084R +6 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
GUncertain significance
COL11A2
(Q363* +2 more)
Single nucleotide variant
(nonsense)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
GLikely pathogenic
COL11A2
(R721W +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+2 more
GUncertain significance
COL11A2
(R1615Q +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
COL11A2
(R558* +2 more)
Single nucleotide variant
(nonsense)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+1 more
GPathogenic
COL11A2
(E2K)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+1 more
GUncertain significance
COL11A2
(E589fs +2 more)
Deletion
(frameshift variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
GPathogenic
COL11A2
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 53
+5 more
GLikely benign
COL11A2
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 53
+5 more
GLikely benign
COL11A2
(T469A +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
COL11A2
(E681K +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+5 more
GUncertain significance
COL11A2
(R121H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 53
+5 more
GUncertain significance
COL11A2
(G1027E +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
GLikely pathogenic
COL11A2
(A300V +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
COL11A2
(R93C)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
COL11A2
(D1152N +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
COL11A2
(R1126C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
COL11A2
(R1150C +2 more)
Single nucleotide variant
(missense variant)
Fibrochondrogenesis 2
+4 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(5 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
COL11A2
(H486N +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+4 more
GConflicting classifications of pathogenicity
COL11A2
(D1153H +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+2 more
GUncertain significance
COL11A2
(R1213L +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL11A2
(R1462H +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(5 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL11A2
(L281H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
COL11A2
(G803E +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
COL11A2
(G740A +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+2 more
GUncertain significance
COL11A2
(N1179S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
COL11A2
(G1593S +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
(R64Q)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+3 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
Single nucleotide variant
(intron variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+2 more
GUncertain significance
COL11A2
(K1303E +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+3 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
Single nucleotide variant
(synonymous variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+3 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
(G304C +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
(L459R +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
Single nucleotide variant
(synonymous variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL11A2
(E589fs +2 more)
Microsatellite
(frameshift variant)
Fibrochondrogenesis 2
GPathogenic
COL11A2
(A23fs)
Duplication
(frameshift variant)
See cases
+1 more
GPathogenic
COL11A2
(P324fs +2 more)
Deletion
(frameshift variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
GPathogenic
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
COL11A2
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 13
+5 more
GBenign
COL11A2
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 53
+5 more
GBenign
COL11A2
(V752M +2 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
COL2A1
Deletion
(splice acceptor variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
GPathogenic
COL11A2
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+4 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(5 prime UTR variant)
not specified
+3 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(synonymous variant)
COL11A2-related disorder
+4 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
COL11A2
(R1695Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL11A2
(P289S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL11A2
(R1020* +2 more)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic/Likely pathogenic
COL11A2
(T1097P +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(genic upstream transcript variant)
Nonsyndromic Hearing Loss, Dominant
+4 more
GLikely benign
COL11A2
Single nucleotide variant
(5 prime UTR variant)
Stickler Syndrome, Dominant
+3 more
GUncertain significance
COL11A2
Single nucleotide variant
(5 prime UTR variant)
Stickler Syndrome, Dominant
+4 more
GBenign/Likely benign
COL11A2
Single nucleotide variant
(5 prime UTR variant)
Stickler Syndrome, Dominant
+4 more
GBenign
COL11A2
Single nucleotide variant
(5 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+3 more
GUncertain significance
COL11A2
(E2G)
Single nucleotide variant
(missense variant)
Stickler Syndrome, Dominant
+4 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL11A2
(P277H)
Single nucleotide variant
(missense variant +1 more)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+3 more
GUncertain significance
COL11A2
(E313D +1 more)
Single nucleotide variant
(missense variant +1 more)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+3 more
GUncertain significance
COL11A2
(P393L +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+4 more
GUncertain significance
COL11A2
(P403L +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
COL11A2
(G461C +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
Stickler Syndrome, Dominant
+4 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+4 more
GBenign/Likely benign
COL11A2
(G685A +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+3 more
GUncertain significance
COL11A2
(I728F +2 more)
Single nucleotide variant
(missense variant)
Fibrochondrogenesis 2
+5 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
Stickler Syndrome, Dominant
+3 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GConflicting classifications of pathogenicity
COL11A2
(R806C +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+4 more
GConflicting classifications of pathogenicity
COL11A2
(G895A +2 more)
Single nucleotide variant
(missense variant)
Stickler Syndrome, Dominant
+4 more
GConflicting classifications of pathogenicity
COL11A2
(V912A +2 more)
Single nucleotide variant
(missense variant)
Stickler Syndrome, Dominant
+4 more
GConflicting classifications of pathogenicity
COL11A2
(P950S +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL11A2
(P1031L +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL11A2
(P1110S +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL11A2
(A1124T +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
COL11A2
Single nucleotide variant
(intron variant)
Stickler Syndrome, Dominant
+6 more
GBenign/Likely benign
COL11A2
Single nucleotide variant
(synonymous variant)
Fibrochondrogenesis 2
+6 more
GConflicting classifications of pathogenicity
COL11A2
(S1242L +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
COL11A2
(R1284W +2 more)
Single nucleotide variant
(missense variant)
Stickler Syndrome, Dominant
+4 more
GConflicting classifications of pathogenicity
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