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Links from MedGen

Items: 1 to 100 of 182

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL11A2
(P149S +5 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
GUncertain significance
COL11A2
(E1085G +6 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
GUncertain significance
COL11A2
(P271fs +2 more)
Duplication
(frameshift variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
GUncertain significance
COL11A2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
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
(T323fs)
Duplication
(frameshift variant +1 more)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+1 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
(P790fs +2 more)
Deletion
(frameshift variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+1 more
GPathogenic/Likely 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
(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)
not provided
+3 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)
Fibrochondrogenesis 2
+4 more
GConflicting classifications of pathogenicity
COL2A1
(A308T +1 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
GPathogenic
COL11A2
(G1382S +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
GPathogenic
COL2A1
(Y1169* +1 more)
Single nucleotide variant
(nonsense)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
GPathogenic
COL11A2
Single nucleotide variant
(synonymous variant)
COL11A2-related condition
+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)
Fibrochondrogenesis 2
+5 more
GConflicting classifications of pathogenicity
COL11A2
(I210V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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)
Fibrochondrogenesis 2
+4 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+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
(L196P)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 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)
Stickler Syndrome, Dominant
+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)
COL11A2-related condition
+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)
not specified
+6 more
GBenign/Likely benign
COL11A2
Single nucleotide variant
(synonymous variant)
Stickler Syndrome, Dominant
+6 more
GConflicting classifications of pathogenicity
COL11A2
(S1242L +2 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
COL11A2
(R1284W +2 more)
Single nucleotide variant
(missense variant)
Stickler Syndrome, Dominant
+4 more
GConflicting classifications of pathogenicity
COL11A2
(E1295K +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 53
+6 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
COL11A2
(P1422L +2 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
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