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Links from MedGen

Items: 1 to 100 of 216

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL11A1
(R1561G +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+6 more
GLikely benign
COL11A1
(D1086E +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
COL11A1
(L1531P +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
COL11A1
(T1353I +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+6 more
GUncertain significance
COL11A1
(R762Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+5 more
GConflicting classifications of pathogenicity
COL11A1
(K185del)
Microsatellite
(inframe_deletion +1 more)
Intervertebral disc disorder
+5 more
GUncertain significance
COL11A1
Single nucleotide variant
(splice donor variant +1 more)
Intervertebral disc disorder
+5 more
GPathogenic/Likely pathogenic
COL11A1
(P1032A +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
GUncertain significance
COL11A1
(P189S)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
COL11A1
(R766C +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
COL11A1
(G722E +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic/Likely pathogenic
COL11A1
(A1023E +3 more)
Single nucleotide variant
(missense variant +1 more)
Intervertebral disc disorder
+6 more
GConflicting classifications of pathogenicity
COL11A1
(G1280C +3 more)
Single nucleotide variant
(missense variant +1 more)
Intervertebral disc disorder
+4 more
GLikely pathogenic
COL11A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign/Likely benign
COL11A1
(G1757R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
COL11A1
(G1243V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant +1 more)
COL11A1-related disorder
+2 more
GConflicting classifications of pathogenicity
COL11A1
Duplication
(splice donor variant)
not provided
+1 more
GPathogenic
COL11A1
(Y1724C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COL11A1
(E351* +2 more)
Single nucleotide variant
(nonsense +2 more)
Stickler syndrome type 2
+2 more
GLikely pathogenic
COL11A1
(T94I)
Single nucleotide variant
(missense variant +1 more)
COL11A1-related disorder
+1 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(5 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
(A160T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
(P873L +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+2 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
Fibrochondrogenesis 1
+2 more
GConflicting classifications of pathogenicity
COL11A1
(D1026N +3 more)
Single nucleotide variant
(missense variant +1 more)
Stickler syndrome type 2
+1 more
GUncertain significance
COL11A1, LOC126805814
(E1702D +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(intron variant)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
COL11A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
(V171M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
Fibrochondrogenesis 1
+3 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
(P1801L +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Stickler syndrome type 2
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Stickler syndrome type 2
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
COL11A1
(D354H +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
(G682S +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(5 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(5 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
(T291A)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
(P490L +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+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)
Fibrochondrogenesis 1
+2 more
GConflicting classifications of pathogenicity
COL11A1
(G817S +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
(R818Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
COL11A1
(K836E +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
COL11A1
(P1076S +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
(S1670N +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1, LOC126805814
Single nucleotide variant
(synonymous variant +1 more)
Fibrochondrogenesis 1
+2 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
(P1269L +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+2 more
GUncertain significance
COL11A1
Deletion
(splice donor variant)
Fibrochondrogenesis 1
GPathogenic
COL11A1
Single nucleotide variant
(splice donor variant)
Fibrochondrogenesis 1
+1 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(synonymous variant +2 more)
Stickler syndrome type 2
+2 more
GConflicting classifications of pathogenicity
COL11A1
(T187M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
Fibrochondrogenesis 1
+3 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
Fibrochondrogenesis 1
+2 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
Stickler syndrome type 2
+3 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
COL11A1
(F1202L +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+1 more
GConflicting classifications of pathogenicity
COL11A1
Duplication
(intron variant)
not specified
+5 more
GBenign
COL11A1
Single nucleotide variant
(intron variant)
Stickler syndrome type 2
+3 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
Stickler syndrome type 2
+2 more
GBenign/Likely benign
COL11A1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
COL11A1
(S1573L +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+2 more
GConflicting classifications of pathogenicity
COL11A1
(T1601N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
Stickler syndrome type 2
+2 more
GBenign/Likely benign
COL11A2
Single nucleotide variant
(genic upstream transcript variant)
Nonsyndromic Hearing Loss, Dominant
+4 more
GLikely benign
COL11A2
Single nucleotide variant
(synonymous variant)
Nonsyndromic Hearing Loss, Dominant
+6 more
GLikely benign
COL11A1
Single nucleotide variant
(5 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Duplication
(5 prime UTR variant +1 more)
Stickler Syndrome, Dominant
+2 more
GUncertain significance
COL11A1
Single nucleotide variant
(5 prime UTR variant +1 more)
Stickler syndrome type 2
+1 more
GUncertain significance
COL11A1
Deletion
(5 prime UTR variant +1 more)
Stickler Syndrome, Dominant
+2 more
GUncertain significance
COL11A1
Single nucleotide variant
(5 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GLikely benign
COL11A1
Single nucleotide variant
(5 prime UTR variant +1 more)
Fibrochondrogenesis 1
+2 more
GBenign/Likely benign
COL11A1
Single nucleotide variant
(5 prime UTR variant +1 more)
Fibrochondrogenesis 1
+1 more
GUncertain significance
COL11A1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
COL11A1
(R12P)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+2 more
GUncertain significance
COL11A1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
(A44T)
Single nucleotide variant
(missense variant +1 more)
Stickler syndrome type 2
+7 more
GBenign/Likely benign
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
COL11A1-related disorder
+3 more
GConflicting classifications of pathogenicity
COL11A1
(G110R)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+4 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
Fibrochondrogenesis 1
+2 more
GConflicting classifications of pathogenicity
COL11A1
(I210V)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+3 more
GConflicting classifications of pathogenicity
COL11A1
Duplication
(intron variant)
Marshall syndrome
+3 more
GConflicting classifications of pathogenicity
COL11A1
(Y233C)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
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