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Links from MedGen

Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL11A2
(G1325* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 53
GLikely pathogenic
COL11A2
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 53
+5 more
GLikely benign
COL11A2
Single nucleotide variant
(intron variant)
not provided
+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
(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
(D1410G +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL11A2
(G1129R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 53
+1 more
GPathogenic/Likely pathogenic
COL11A2
(A324fs)
Duplication
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 53
GLikely pathogenic
COL11A2
(P603S +2 more)
Single nucleotide variant
(missense variant)
Hearing impairment
+2 more
GUncertain significance
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
(G812fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 53
GLikely pathogenic
COL11A2
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 13
+5 more
GLikely benign
COL11A2
(T323fs)
Duplication
(frameshift variant +1 more)
COL11A2-Related Disorders
+8 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
(E1295K +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+6 more
GBenign
COL11A2
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign
COL11A2
Single nucleotide variant
(synonymous variant)
Stickler Syndrome, Dominant
+7 more
GBenign
COL11A2
(G230W)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+8 more
GConflicting classifications of pathogenicity
COL11A2
(P888T +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 53
GPathogenic
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)
not specified
+5 more
GConflicting classifications of pathogenicity
COL11A2
(R1600Q +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+8 more
GBenign/Likely benign
COL11A2
(R1667H +2 more)
Single nucleotide variant
(missense variant)
Stickler Syndrome, Dominant
+7 more
GConflicting classifications of pathogenicity
COL11A2
(R729Q +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+7 more
GBenign/Likely benign
COL11A2
(P1347Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
COL11A2
(A37S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COL11A2
Single nucleotide variant
(intron variant)
Connective tissue disorder
+8 more
GBenign
COL11A2
(E276K)
Single nucleotide variant
(missense variant +1 more)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+7 more
GBenign
COL11A2
Single nucleotide variant
(intron variant)
not specified
+7 more
GBenign
COL11A2
Single nucleotide variant
(synonymous variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+7 more
GBenign
COL11A2
Single nucleotide variant
(intron variant)
not specified
+7 more
GBenign
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign
COL11A2
Single nucleotide variant
(intron variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+7 more
GBenign
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign
COL11A2
Single nucleotide variant
(intron variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+7 more
GBenign
COL11A2
(P621T +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL11A2
(R1224* +2 more)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic
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