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Items: 1 to 100 of 257

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC105372173, LOC105372179
+1646 more
Copy number gain
See cases
GPathogenic
LOC105372069, LOC105372071
+1643 more
Copy number gain
See cases
GPathogenic
LOC121852961, LOC121852962
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062369, LOC130062370
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062321, LOC130062322
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062687, LOC130062688
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1643 more
Copy number gain
See cases
GPathogenic
CDH7, CELF4
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062768, LOC130062769
+1642 more
Copy number gain
See cases
GPathogenic
LOC130062386, LOC130062387
+378 more
Copy number gain
See cases
GPathogenic
LINC01900, LINC01908
+282 more
Copy number gain
See cases
GPathogenic
LOC130062608, LOC130062609
+1266 more
Copy number gain
See cases
GPathogenic
LOC130062514, LOC130062515
+1089 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1266 more
Copy number gain
See cases
GPathogenic
ASXL3, B4GALT6
+167 more
Copy number loss
See cases
GPathogenic
B4GALT6, DSC1
+32 more
Copy number gain
See cases
GUncertain significance
B4GALT6, DSG1
+21 more
Copy number gain
See cases
GUncertain significance
DSG1, DSG1-AS1
+12 more
Copy number gain
See cases
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(F6L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
+2 more
GBenign/Likely benign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
+1 more
GBenign
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
GBenign
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
GBenign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSG1-AS1, DSG4
(E28*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
GBenign
DSG1-AS1, DSG4
(K30fs)
Deletion
(frameshift variant)
Hypotrichosis 6
GPathogenic
DSG4, DSG1-AS1
(I34V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(T43fs)
Deletion
(frameshift variant)
Hypotrichosis 6
GPathogenic
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSG1-AS1, DSG4
(R59Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DSG1-AS1, DSG4
(K66E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DSG1-AS1, DSG4
(N68D)
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
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(splice donor variant)
Hypotrichosis 6
GPathogenic
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
DSG4-related condition
GLikely benign
DSG1-AS1, DSG4
(S79L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
+1 more
GBenign
DSG1-AS1, DSG4
(I87L)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(R105H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSG1-AS1, DSG4
(D116G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
Deletion
(splice acceptor variant +1 more)
Hypotrichosis 6
GPathogenic
DSG4, DSG1-AS1
(Y126C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(R133Q)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(R139S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DSG1-AS1, DSG4
(L143R)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(A154T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DSG1-AS1, DSG4
(I166M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
DSG4-related condition
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
GBenign
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
GBenign
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
GBenign
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
GBenign
DSG1-AS1, DSG4
(S192P)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GPathogenic
DSG1-AS1, DSG4
(Y196C)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(K197R)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(V199I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DSG1-AS1, DSG4
(M208T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(F209L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(I210F)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG4, DSG1-AS1
Single nucleotide variant
(synonymous variant)
DSG4-related condition
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
GBenign
DSG4, DSG1-AS1
(R238T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(G239S)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(A246V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSG1-AS1, DSG4
(C255fs)
Deletion
(frameshift variant)
Hypotrichosis 6
GPathogenic
DSG1-AS1, DSG4
(P267R)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GPathogenic
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
GBenign
DSG1-AS1, DSG4
+2 more
Copy number loss
See cases
GBenign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
DSG1-AS1, DSG4
(R289*)
Single nucleotide variant
(nonsense)
Hypotrichosis 6
GPathogenic
DSG1-AS1, DSG4
(L295P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG4, DSG1-AS1
(E298K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(Y307D)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(Y307C)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(L310I)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(G312E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG4, DSG1-AS1
(N316D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DSG1-AS1, DSG4
(D319N)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(D323G)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GPathogenic
DSG1-AS1, DSG4
(N327S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
Single nucleotide variant
(splice donor variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
GBenign
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
GBenign
DSG4, DSG1-AS1
(A342V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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