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Items: 1 to 100 of 1183

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057943, LOC130057944
+664 more
Copy number gain
See cases
GPathogenic
LOC130057907, LOC130057908
+630 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+611 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
MIR11181, MIR1179
+517 more
Copy number gain
See cases
GPathogenic
LOC130057997, LOC130057998
+500 more
Copy number gain
See cases
GPathogenic
LOC130057929, LOC130057930
+311 more
Copy number gain
See cases
GPathogenic
ACAN
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAN
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAN
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
ACAN
Single nucleotide variant
(splice acceptor variant)
Osteochondritis dissecans
GLikely pathogenic
ACAN
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAN
(L4S)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ACAN
(L5F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAN
(W6*)
Single nucleotide variant
(nonsense)
not provided
GConflicting classifications of pathogenicity
ACAN
(V9L)
Single nucleotide variant
(missense variant)
ACAN-related disorder
GUncertain significance
ACAN
(V9M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACAN
(L11fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
ACAN
(V13fs)
Deletion
(frameshift variant)
Spondyloepimetaphyseal dysplasia, aggrecan type
GUncertain significance
ACAN
(A17V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAN
Deletion
(intron variant)
not provided
GBenign
ACAN
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAN
(D24E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ACAN
(N27D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(N27S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAN
(S30N)
Single nucleotide variant
(missense variant)
not provided
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
(Q35fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ACAN
(P36S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ACAN
(P38L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAN
(T45fs)
Deletion
(frameshift variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GLikely pathogenic
ACAN
(G44R)
Single nucleotide variant
(missense variant)
Osteochondritis dissecans
GUncertain significance
ACAN
(T45N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAN
(T48I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(I49M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(P50S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAN
(D55H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(D55G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ACAN
(T62N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ACAN
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
ACAN
(A63T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(A63P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(A63D)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, aggrecan type
GUncertain significance
ACAN
(S65Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAN
(A67T)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ACAN
(P68Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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)
not provided
GLikely benign
ACAN
(I73V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(W75fs)
Duplication
(frameshift variant)
Osteochondritis dissecans
GLikely pathogenic
ACAN
(W75R)
Single nucleotide variant
(missense variant)
Short stature and advanced bone age, with early-onset osteoarthritis
GPathogenic
ACAN
(R77C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACAN
(R77H)
Single nucleotide variant
(missense variant)
Osteochondritis dissecans
+2 more
GConflicting classifications of pathogenicity
ACAN
(K80Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(K80R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(V84L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(V88M)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia, Kimberley type
GUncertain significance
ACAN
(R93fs)
Deletion
(frameshift variant)
Short stature and advanced bone age
GPathogenic
ACAN
(G92R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(R93C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACAN
(R93H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAN
Deletion
(inframe_deletion)
not provided
GUncertain significance
ACAN
(V94M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(R95W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 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
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAN
(Q101*)
Single nucleotide variant
(nonsense)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GPathogenic
ACAN
(D102E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAN
(N108K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ACAN
(Y109N)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ACAN
(P110L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAN
(A116P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(V120I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAN
(V120F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACAN
(Q121*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
ACAN
(R124C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(N126H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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