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Links from MedGen

Items: 85

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL11A1
(R535* +3 more)
Single nucleotide variant
(nonsense +1 more)
Marshall syndrome
+1 more
GLikely pathogenic
COL11A1
(S100fs)
Deletion
(frameshift variant +1 more)
Marshall syndrome
GLikely pathogenic
COL11A1
(G1055R +3 more)
Single nucleotide variant
(missense variant +1 more)
Marshall syndrome
+1 more
GUncertain significance
COL11A1
(G927V +3 more)
Single nucleotide variant
(missense variant +1 more)
Stickler syndrome type 2
+3 more
GUncertain significance
COL11A1
(G1415R +3 more)
Single nucleotide variant
(missense variant +1 more)
Marshall syndrome
GUncertain significance
COL11A1
(G1504D +3 more)
Single nucleotide variant
(missense variant +1 more)
Hearing loss, autosomal dominant 37
+2 more
GUncertain significance
COL11A1
(R1561G +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL11A1
Single nucleotide variant
(splice acceptor variant)
Hearing loss, autosomal dominant 37
+2 more
GUncertain significance
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
Marshall syndrome
+6 more
GLikely benign
PCDH12, RNF14
(V354I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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)
Hearing loss, autosomal dominant 37
+6 more
GConflicting classifications of pathogenicity
COL11A1
(T1353I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GUncertain significance
COL11A1
(R762Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
COL11A1
(K185del)
Microsatellite
(inframe_deletion +1 more)
not provided
+5 more
GUncertain significance
COL11A1
Single nucleotide variant
(splice donor variant +1 more)
Intervertebral disc disorder
+5 more
GPathogenic/Likely pathogenic
COL11A1
Deletion
(inframe_deletion +1 more)
Marshall syndrome
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)
COL11A1-related disorder
+6 more
GConflicting classifications of pathogenicity
COL11A1
(G788V +3 more)
Single nucleotide variant
(missense variant +1 more)
Hearing loss, autosomal dominant 37
+2 more
GUncertain significance
COL11A1
(G1280C +3 more)
Single nucleotide variant
(missense variant +1 more)
Intervertebral disc disorder
+4 more
GLikely pathogenic
COL11A1
Deletion
(splice acceptor variant)
Hearing loss, autosomal dominant 37
+2 more
GPathogenic
COL11A1, RNPC3
Deletion
Stickler syndrome type 2
+2 more
GLikely pathogenic
COL11A1
Single nucleotide variant
(intron variant)
Marshall syndrome
+5 more
GBenign/Likely benign
COL11A1
(G1757R +3 more)
Single nucleotide variant
(missense variant +1 more)
Intervertebral disc disorder
+5 more
GUncertain significance
COL11A1
(G1243V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
COL11A1
Duplication
(splice donor variant)
Fibrochondrogenesis 1
+1 more
GPathogenic
COL11A1
(L721fs +3 more)
Duplication
(frameshift variant +1 more)
Marshall syndrome
GLikely pathogenic
COL11A1
(P633S +3 more)
Single nucleotide variant
(missense variant +1 more)
Marshall syndrome
GLikely benign
COL11A1
(I1342T +3 more)
Single nucleotide variant
(missense variant +1 more)
Marshall syndrome
GUncertain significance
COL11A1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
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)
not provided
+1 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
Marshall syndrome
GUncertain significance
COL11A1
(V129I)
Single nucleotide variant
(missense variant +1 more)
Marshall syndrome
GUncertain significance
COL11A1
(N876H +3 more)
Single nucleotide variant
(missense variant +1 more)
Marshall syndrome
GUncertain significance
COL11A1
Single nucleotide variant
(intron variant)
Marshall syndrome
GUncertain significance
COL11A1
(P1344Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Marshall syndrome
GUncertain significance
COL11A1
Deletion
not provided
+1 more
GPathogenic
COL11A1
(G1000S +3 more)
Single nucleotide variant
(missense variant +1 more)
Stickler syndrome type 2
+1 more
GLikely pathogenic
COL11A1
Duplication
(intron variant)
not provided
+5 more
GBenign
COL11A1
(G1516V +3 more)
Single nucleotide variant
(missense variant +1 more)
Stickler syndrome type 2
+3 more
GPathogenic/Likely pathogenic
COL11A1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL11A1
Duplication
(5 prime UTR variant +1 more)
Stickler Syndrome, Dominant
+2 more
GUncertain significance
COL11A1
Deletion
(5 prime UTR variant +1 more)
Stickler Syndrome, Dominant
+2 more
GUncertain significance
COL11A1
(A44T)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+7 more
GBenign/Likely benign
COL11A1
Duplication
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL11A1
Microsatellite
(intron variant)
Fibrochondrogenesis 1
+3 more
GBenign
COL11A1
Microsatellite
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL11A1
(P1275L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
COL11A1
Deletion
(intron variant)
not provided
+3 more
GBenign
COL11A1
Duplication
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL11A1
Deletion
(intron variant)
not provided
+3 more
GLikely benign
COL11A1
(G1408S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
COL11A1
Deletion
(intron variant)
not provided
+3 more
GBenign
COL11A1
Duplication
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL11A1
Duplication
(intron variant)
Fibrochondrogenesis 1
+3 more
GConflicting classifications of pathogenicity
COL11A1
Duplication
(3 prime UTR variant +1 more)
Fibrochondrogenesis 1
+3 more
GUncertain significance
COL11A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GUncertain significance
COL11A1
Single nucleotide variant
(intron variant)
Stickler syndrome type 2
+6 more
GBenign
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
Hearing loss, autosomal dominant 37
+5 more
GBenign
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
Hearing loss, autosomal dominant 37
+5 more
GBenign
COL11A1
(P1323L +3 more)
Single nucleotide variant
(missense variant +1 more)
Hearing loss, autosomal dominant 37
+5 more
GBenign
COL11A1
Single nucleotide variant
(synonymous variant +1 more)
Hearing loss, autosomal dominant 37
+5 more
GBenign
COL11A1
Single nucleotide variant
(intron variant)
Hearing loss, autosomal dominant 37
+5 more
GBenign
COL11A1
Single nucleotide variant
(intron variant)
Hearing loss, autosomal dominant 37
+5 more
GBenign
COL11A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
COL11A1
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
COL11A1
Single nucleotide variant
(intron variant)
Hearing loss, autosomal dominant 37
+5 more
GBenign
COL11A1
Single nucleotide variant
(intron variant)
Stickler syndrome type 2
+6 more
GBenign
COL11A1
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
COL11A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
COL11A1
Single nucleotide variant
(intron variant)
Hearing loss, autosomal dominant 37
+5 more
GBenign
COL11A1
Deletion
(intron variant)
Connective tissue disorder
+6 more
GBenign
COL11A1, LOC126805814
(R1745H +3 more)
Single nucleotide variant
(missense variant +1 more)
COL11A1-related disorder
+5 more
GConflicting classifications of pathogenicity
COL11A1
(V1283L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
COL11A1
Duplication
(intron variant)
not provided
+5 more
GConflicting classifications of pathogenicity
COL11A1
Deletion
(intron variant)
not provided
+5 more
GBenign
COL11A1
Microsatellite
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL11A1
Microsatellite
(intron variant)
not provided
+5 more
GBenign/Likely benign
COL11A1
Single nucleotide variant
(splice donor variant)
Stickler syndrome type 2
+3 more
GPathogenic
COL11A1
(S1535P +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GBenign
COL11A1
Deletion
(splice donor variant)
Marshall syndrome
GPathogenic
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