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Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL11A1, LOC126805814
(A1770V +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+2 more
GUncertain significance
COL11A1, LOC126805814
(R1745H +3 more)
Single nucleotide variant
(missense variant +1 more)
COL11A1-related condition
+5 more
GConflicting classifications of pathogenicity
LOC126805814, COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
COL11A1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL11A1
(I1548V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL11A1
Single nucleotide variant
(splice donor variant)
Neurodevelopmental disorder
+1 more
GPathogenic/Likely pathogenic
COL11A1
(G1516V +3 more)
Single nucleotide variant
(missense variant +1 more)
Stickler syndrome type 2
+3 more
GPathogenic/Likely pathogenic
COL11A1
(I1502V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
COL11A1
(D1484E +3 more)
Single nucleotide variant
(missense variant +1 more)
COL11A1-related condition
+5 more
GBenign/Likely benign
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
Connective tissue disorder
+4 more
GBenign/Likely benign
COL11A1
Single nucleotide variant
(intron variant)
Connective tissue disorder
+4 more
GBenign/Likely benign
COL11A1
(A1365T +3 more)
Single nucleotide variant
(missense variant +1 more)
COL11A1-related condition
+4 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
Connective tissue disorder
+3 more
GConflicting classifications of pathogenicity
COL11A1
Deletion
(inframe_deletion +1 more)
not provided
GLikely pathogenic
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
COL11A1
(P1323L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GBenign
COL11A1
Single nucleotide variant
(splice donor variant)
COL11A1-related disorder
+3 more
GPathogenic
COL11A1
(V1283L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
COL11A1
(P1229L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
(A1101S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
COL11A1
(L1043P +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
COL11A1
(P986Q +3 more)
Single nucleotide variant
(missense variant +1 more)
COL11A1-related condition
+3 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
COL11A1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL11A1
(D909N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL11A1
Single nucleotide variant
(intron variant)
COL11A1-related condition
+2 more
GConflicting classifications of pathogenicity
COL11A1
(F872I +3 more)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+4 more
GBenign
COL11A1
(G790D +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
Intervertebral disc disorder
+5 more
GUncertain significance
COL11A1
(G742A +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL11A1
Duplication
(intron variant)
not specified
+1 more
GBenign
COL11A1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL11A1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL11A1
(D672N +3 more)
Single nucleotide variant
(missense variant +1 more)
Hearing impairment
+2 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
Stickler syndrome type 2
+3 more
GBenign
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
Connective tissue disorder
+4 more
GBenign
COL11A1
Microsatellite
(intron variant)
not provided
GLikely benign
COL11A1
Microsatellite
(intron variant)
Stickler Syndrome, Dominant
+4 more
GConflicting classifications of pathogenicity
COL11A1
Microsatellite
(intron variant)
Hearing loss, autosomal dominant 37
+5 more
GBenign/Likely benign
COL11A1
(T508A +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
COL11A1
(M465I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
COL11A1
(F401I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
COL11A1
(F401L +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GConflicting classifications of pathogenicity
COL11A1
(E353Q +2 more)
Single nucleotide variant
(missense variant +2 more)
COL11A1-related condition
+3 more
GConflicting classifications of pathogenicity
COL11A1
(P334L +2 more)
Single nucleotide variant
(missense variant +2 more)
COL11A1-related condition
+4 more
GConflicting classifications of pathogenicity
COL11A1
(T298M)
Single nucleotide variant
(missense variant +2 more)
not provided
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
COL11A1
Duplication
(intron variant)
Stickler Syndrome, Dominant
+5 more
GConflicting classifications of pathogenicity
COL11A1
Deletion
(intron variant)
Stickler Syndrome, Dominant
+5 more
GBenign
COL11A1
Insertion
(intron variant)
not provided
+1 more
GLikely benign
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
COL11A1
(T72S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
(T18S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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