U.S. flag

An official website of the United States government

Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 1 to 100 of 273

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSG1-AS1, DSG4
(I194T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(V17M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(I166T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(I1035M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(V939I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(V900M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DSG1-AS1, DSG4
(V90I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(S899T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(G810R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(K786E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(S772A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DSG1-AS1, DSG4
(G767E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(G673S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(T665I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(L649S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(I471T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG3, DSG4
Copy number gain
not specified
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
DSG4-related disorder
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
DSG4-related disorder
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
DSG4-related disorder
GLikely benign
DSG1-AS1, DSG4
(A716V)
Single nucleotide variant
(missense variant +1 more)
DSG4-related disorder
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
DSG4-related disorder
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
DSG4-related disorder
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
DSG4-related disorder
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSG1-AS1, DSG4
(I459fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASXL3, B4GALT6
+35 more
Copy number loss
not provided
GPathogenic
DSG1-AS1, DSG4
(N893S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(F452L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(E381G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(L295P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(V372M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(S360C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(D116G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(Y715D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(S1040T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(I70V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(G903R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(T43fs)
Deletion
(frameshift variant)
Hypotrichosis 6
GPathogenic
DSG1-AS1, DSG4
(D323G)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GPathogenic
DSG1-AS1, DSG4
(V677A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(F209L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(E956K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(N949T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(M1006V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(G382A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
B4GALT6, DSC1
+9 more
Duplication
not provided
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DSG1-AS1, DSG4
(R105H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSG1-AS1, DSG4
(R373K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(I34V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(G312E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(N68D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(F6L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(G419R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(A806T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(P343L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(Y126C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(A601T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DSG1-AS1, DSG4
(A342V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(E872K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(A895V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(G430E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(G815D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(M894V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DSG1-AS1, DSG4
(M367I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(G1012S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(M208T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(N316D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(I459L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(P999A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(V361I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(E298K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(G350R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(R238T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(E467D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(V199I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DSG1-AS1, DSG4
(G534V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSG1-AS1, DSG4
(A246V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSG1-AS1, DSG4
(N405S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSG1-AS1, DSG4
(N893T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSG1-AS1, DSG4
(V993M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSG4, DSG1-AS1
(E689*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DSG1-AS1, DSG4
(G634D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSG1-AS1, DSG4
(K66E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSG1-AS1, DSG4
(Q657L)
Indel
(missense variant)
not provided
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
GBenign
DSG1-AS1, DSG4
(I166M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DSG1-AS1, DSG4
Single nucleotide variant
(splice donor variant)
Hypotrichosis 6
GUncertain significance
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination