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Links from MedGen

Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAN
(V1597del)
Microsatellite
(inframe_deletion)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GUncertain significance
ACAN
Single nucleotide variant
(splice donor variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GPathogenic
ACAN
(A2277fs)
Duplication
(frameshift variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GLikely pathogenic
ACAN
(L302P)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GLikely pathogenic
ACAN
(Y1922*)
Single nucleotide variant
(nonsense)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GLikely pathogenic
ACAN
(T45fs)
Deletion
(frameshift variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GLikely pathogenic
ACAN
(D2078fs)
Deletion
(frameshift variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GLikely pathogenic
ACAN
(Q2227*)
Single nucleotide variant
(nonsense)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GPathogenic
ACAN
(G1635R)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GUncertain significance
ACAN
Single nucleotide variant
(splice donor variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GLikely pathogenic
ACAN
Deletion
(inframe_deletion +1 more)
not provided
+1 more
GUncertain significance
ACAN
(G129E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACAN
(P1443R)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GUncertain significance
ACAN
(P1892S)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GUncertain significance
ACAN
(R668fs)
Duplication
(frameshift variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GPathogenic
ACAN
(F2448fs +2 more)
Deletion
(frameshift variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GLikely pathogenic
ACAN
(V307M)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GUncertain significance
ACAN
(E1953fs)
Deletion
(frameshift variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GLikely pathogenic
ACAN
(W928*)
Single nucleotide variant
(nonsense)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GLikely pathogenic
Deletion
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GPathogenic
Deletion
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GUncertain risk allele
ACAN
(K2462R +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+2 more
GBenign
ACAN
(F2297L +2 more)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+2 more
GBenign
ACAN
(D1390E)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+2 more
GBenign
Duplication
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GPathogenic
Deletion
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GPathogenic
ACAN
(S1492fs)
Deletion
(frameshift variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GPathogenic
ACAN
(G554fs)
Duplication
(frameshift variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GLikely pathogenic
ACAN
(P847A)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, aggrecan type
+2 more
GUncertain significance
ACAN
(V31F)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GUncertain significance
ACAN
(Q101*)
Single nucleotide variant
(nonsense)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GPathogenic
ACAN
(R279Q)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+3 more
GUncertain significance
ACAN
(S98fs)
Deletion
(frameshift variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GLikely pathogenic
ACAN
(T2401K +2 more)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GUncertain significance
ACAN
Single nucleotide variant
(splice acceptor variant)
Osteochondritis dissecans
+1 more
GPathogenic
ACAN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GUncertain significance
ACAN
(R675*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ACAN
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia, Kimberley type
+3 more
GBenign
ACAN
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia, Kimberley type
+3 more
GBenign
ACAN
(P913T)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia, Kimberley type
+3 more
GBenign
ACAN
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
ACAN
(P864L)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia, Kimberley type
+3 more
GBenign
ACAN
Single nucleotide variant
(intron variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+3 more
GBenign/Likely benign
ACAN
(D102E)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+3 more
GBenign
ACAN
Single nucleotide variant
(synonymous variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+3 more
GBenign
ACAN
(A628T)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+3 more
GBenign
ACAN
Single nucleotide variant
(intron variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+3 more
GBenign
ACAN
(R585S)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+3 more
GBenign
ACAN
(I404V)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+3 more
GBenign
ACAN
(S490L)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, aggrecan type
+3 more
GBenign/Likely benign
ACAN
(I2079V)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+3 more
GBenign
ACAN
(S930I)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+3 more
GBenign
ACAN
(T1403A)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+3 more
GBenign
ACAN
(S939T)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+3 more
GBenign
ACAN
(P1610fs)
Deletion
(frameshift variant)
Osteochondritis dissecans
GLikely pathogenic
ACAN
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
ACAN
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ACAN
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
ACAN
Single nucleotide variant
(synonymous variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+3 more
GBenign
ACAN
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia, Kimberley type
+3 more
GBenign/Likely benign
ACAN
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia, aggrecan type
+3 more
GBenign/Likely benign
ACAN
(A2446V +1 more)
Single nucleotide variant
(missense variant +1 more)
Spondyloepimetaphyseal dysplasia, aggrecan type
+3 more
GLikely benign
ACAN
(F456L)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+3 more
GBenign
ACAN
(Q2364* +2 more)
Single nucleotide variant
(nonsense)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GPathogenic
ACAN
(L2355P +2 more)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GPathogenic
ACAN
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
ACAN
Single nucleotide variant
(synonymous variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+4 more
GBenign/Likely benign
ACAN
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia, aggrecan type
+4 more
GBenign
ACAN
(R617H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
ACAN
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
ACAN
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
ACAN
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
ACAN
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GBenign/Likely benign
ACAN
(V2379M +2 more)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GPathogenic
ACAN
(D2343N +2 more)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
+1 more
GLikely pathogenic
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