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Links from MedGen

Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL11A2
(G1015V +6 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 13
GUncertain significance
COL11A2
Single nucleotide variant
(splice donor variant)
Autosomal dominant nonsyndromic hearing loss 13
GLikely pathogenic
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
(R913Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+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
(P1011T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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
(P418S +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 13
+1 more
GConflicting classifications of pathogenicity
COL11A2
(D1180H +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 13
+1 more
GConflicting classifications of pathogenicity
COL11A2
(E1119K +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A2
(P603S +2 more)
Single nucleotide variant
(missense variant)
Hearing impairment
+2 more
GUncertain significance
COL11A2
(E589fs +2 more)
Microsatellite
(frameshift variant)
Fibrochondrogenesis 2
GPathogenic
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
(D33N)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 13
+1 more
GUncertain significance
COL11A2
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 13
+5 more
GLikely benign
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
(E2G)
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
(intron variant)
not provided
+6 more
GBenign
COL11A2
Single nucleotide variant
(intron variant)
not provided
+6 more
GBenign
COL11A2
Single nucleotide variant
(synonymous variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+7 more
GBenign
COL11A2
(G230W)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
COL11A2
(G297S +1 more)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+7 more
GConflicting classifications of pathogenicity
COL11A2
(A974V +2 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+5 more
GConflicting classifications of pathogenicity
COL11A2
(N1311S +2 more)
Single nucleotide variant
(missense variant)
COL11A2-related condition
+6 more
GConflicting classifications of pathogenicity
COL11A2
(R1600Q +2 more)
Single nucleotide variant
(missense variant)
Stickler Syndrome, Dominant
+8 more
GBenign/Likely benign
COL11A2
(R729Q +2 more)
Single nucleotide variant
(missense variant)
Fibrochondrogenesis 2
+7 more
GBenign/Likely benign
COL11A2
(P1347Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 13
+6 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
Stickler Syndrome, Dominant
+8 more
GBenign
COL11A2
(E276K)
Single nucleotide variant
(missense variant +1 more)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+7 more
GBenign
COL11A2
Single nucleotide variant
(intron variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+7 more
GBenign
COL11A2
Single nucleotide variant
(synonymous variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+7 more
GBenign
COL11A2
Single nucleotide variant
(intron variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+7 more
GBenign
COL11A2
Single nucleotide variant
(synonymous variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+7 more
GBenign
COL11A2
Single nucleotide variant
(intron variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+7 more
GBenign
COL11A2
Single nucleotide variant
(synonymous variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+7 more
GBenign
COL11A2
Single nucleotide variant
(intron variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+7 more
GBenign
COL11A2
(R1224* +2 more)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic
COL11A2
(R1272* +2 more)
Single nucleotide variant
(nonsense)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GPathogenic/Likely pathogenic
COL11A2
(G701E +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 13
GPathogenic
COL11A2
(R1034C +2 more)
Single nucleotide variant
(missense variant)
COL11A2-related condition
+2 more
GPathogenic/Likely pathogenic
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