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Items: 1 to 100 of 161

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD3, ACAA2
+1646 more
Copy number gain
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
ANKRD12, ANKRD29
+1642 more
Copy number gain
See cases
GPathogenic
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+378 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+282 more
Copy number gain
See cases
GPathogenic
LOC126862717, LOC126862718
+1266 more
Copy number gain
See cases
GPathogenic
LOC132090510, LOC132090511
+1089 more
Copy number gain
See cases
GPathogenic
LOC132211113, LOC132211114
+1266 more
Copy number gain
See cases
GPathogenic
DSC1, DSC2
+10 more
Copy number loss
See cases
GPathogenic
DSC1, DSC2
+9 more
Copy number gain
See cases
GUncertain significance
ASXL3, B4GALT6
+167 more
Copy number loss
See cases
GPathogenic
B4GALT6, DSC1
+32 more
Copy number gain
See cases
GUncertain significance
DSC2, DSC3
+2 more
Copy number gain
See cases
GUncertain significance
DSC3
Duplication
(3 prime UTR variant)
not provided
GBenign
DSC3
Duplication
(3 prime UTR variant)
not provided
GBenign
DSC3
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
DSC3
(H837P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DSC3
(R835T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
Deletion
(intron variant)
not provided
GBenign
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
DSC3
(G830S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DSC3
(R828C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DSC3
(L801R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(A795fs)
Duplication
(frameshift variant)
not provided
GLikely benign
DSC3
(R793L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(I779T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(S769P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
DSC3
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
(D743V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(D743N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(P740S)
Single nucleotide variant
(missense variant)
DSC3-related disorder
GLikely benign
DSC3
(L727*)
Single nucleotide variant
(nonsense)
Hereditary hypotrichosis with recurrent skin vesicles
GPathogenic
DSC3
(F723L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(R722H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(R722C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(L710*)
Single nucleotide variant
(nonsense)
Hereditary hypotrichosis with recurrent skin vesicles
GPathogenic
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
(L702Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(I648T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(I648V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DSC3
(R634C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
(P617L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(Y609C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(Y609D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(H604R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DSC3
(R557I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
(Y545C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(E543Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
Single nucleotide variant
(synonymous variant)
DSC3-related disorder
GLikely benign
DSC3
(I532N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(T529A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(G516V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(N504S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
DSC3
Single nucleotide variant
(synonymous variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
DSC3
(R479Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(P469L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(R463G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(V460A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(R455T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(R445S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(A441V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DSC3
(N432D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC1, DSC2
+2 more
Copy number loss
See cases
GUncertain significance
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
DSC3
(D409fs)
Deletion
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
DSC3
(R375*)
Single nucleotide variant
(nonsense)
Hereditary hypotrichosis with recurrent skin vesicles
GLikely pathogenic
DSC3
(I373T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(V371M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(A359S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
(C341S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
Single nucleotide variant
(synonymous variant)
DSC3-related disorder
GLikely benign
DSC3
(M323I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DSC3
Microsatellite
(intron variant)
not provided
GBenign
DSC3
Microsatellite
(intron variant)
not provided
GBenign
DSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
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