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Items: 1 to 100 of 1093

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057816, LOC130057817
+1763 more
Copy number gain
See cases
GPathogenic
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
LOC111822949, LOC112272574
+664 more
Copy number gain
See cases
GPathogenic
LOC130057971, LOC130057972
+630 more
Copy number gain
See cases
GPathogenic
LOC130057938, LOC130057939
+611 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
LOC130057962, LOC130057963
+517 more
Copy number gain
See cases
GPathogenic
LOC130058025, LOC130058026
+500 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+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 condition
GUncertain significance
ACAN
(V9M)
Single nucleotide variant
(missense variant)
not provided
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)
ACAN-related condition
+2 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)
not provided
+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
+1 more
GConflicting classifications of pathogenicity
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
(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)
not provided
+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)
ACAN-related condition
+3 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)
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
(N108K)
Single nucleotide variant
(missense variant)
not provided
+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
(V120F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACAN
(R124C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(N126H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(N126S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAN
(S128P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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