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Items: 1 to 100 of 1218

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130066574, LOC130066575
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066796, LOC130066797
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066513, LOC130066514
+1160 more
Copy number gain
See cases
GPathogenic
LOC126653326, LOC126653327
+1160 more
Copy number gain
See cases
GUncertain significance
LOC130066833, LOC130066834
+1160 more
Copy number gain
See cases
GPathogenic
CBR1-AS1, CBR3
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066700, LOC130066701
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066665, LOC130066666
+1160 more
Copy number gain
See cases
GPathogenic
LOC126653316, LOC126653317
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066758, LOC130066759
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066436, LOC130066437
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
KRTAP13-3, KRTAP13-4
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, MIR6814
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066541, LOC130066542
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
LOC130066593, LOC130066594
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066830, LOC130066831
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC129391220, LOC129391221
+1156 more
Copy number loss
See cases
GPathogenic
LOC130066733, LOC130066734
+643 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+598 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+586 more
Copy number gain
See cases
GPathogenic
LOC130066879, LOC130066880
+568 more
Copy number gain
See cases
GPathogenic
AGPAT3, AIRE
+516 more
Copy number loss
See cases
GPathogenic
LOC130066848, LOC130066849
+482 more
Copy number loss
See cases
GPathogenic
LOC108254685, LOC108281139
+429 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+416 more
Copy number loss
See cases
GPathogenic
LOC130066823, LOC130066824
+376 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+340 more
Copy number loss
See cases
GPathogenic
LOC130066810, LOC130066811
+334 more
Copy number loss
See cases
GPathogenic
LOC130066817, LOC130066818
+276 more
Copy number loss
See cases
GPathogenic
AATBC, ADARB1
+268 more
Copy number loss
See cases
GPathogenic
AATBC, ADARB1
+245 more
Duplication
Autism
GLikely pathogenic
AIRE, CFAP410
+28 more
Copy number gain
See cases
GLikely benign
AIRE
Duplication
Polyglandular autoimmune syndrome, type 1
GUncertain significance
AIRE
Insertion
Polyglandular autoimmune syndrome, type 1
GUncertain significance
AIRE
Single nucleotide variant
not provided
GBenign
AIRE
Single nucleotide variant
Polyglandular autoimmune syndrome, type 1
+1 more
GBenign
AIRE
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
AIRE
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
AIRE
(M1fs)
Deletion
(frameshift variant +1 more)
Polyglandular autoimmune syndrome, type 1
GUncertain significance
AIRE
(M1fs)
Deletion
(frameshift variant +1 more)
Polyglandular autoimmune syndrome, type 1
GPathogenic
AIRE, LOC130066813
+1 more
Deletion
Polyglandular autoimmune syndrome, type 1
GPathogenic
AIRE
Single nucleotide variant
(5 prime UTR variant)
Polyglandular autoimmune syndrome, type 1
GUncertain significance
AIRE
(M1V)
Single nucleotide variant
(missense variant +1 more)
Inherited Immunodeficiency Diseases
+1 more
GPathogenic/Likely pathogenic
AIRE
(M1L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
AIRE
(M1T)
Single nucleotide variant
(missense variant +1 more)
Polyglandular autoimmune syndrome, type 1
GPathogenic
AIRE
(M1R)
Single nucleotide variant
(missense variant +1 more)
Polyglandular autoimmune syndrome, type 1
GPathogenic
AIRE
(M1K)
Single nucleotide variant
(missense variant +1 more)
Polyglandular autoimmune syndrome, type 1
GPathogenic
AIRE
(T3P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AIRE
Single nucleotide variant
(synonymous variant)
Polyglandular autoimmune syndrome, type 1
GLikely benign
AIRE
Single nucleotide variant
(synonymous variant)
Polyglandular autoimmune syndrome, type 1
GLikely benign
AIRE
(D4N)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GUncertain significance
AIRE
(D4A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AIRE
(D4V)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GUncertain significance
AIRE
(A5fs)
Microsatellite
(frameshift variant)
Polyglandular autoimmune syndrome, type 1
GPathogenic
AIRE
Single nucleotide variant
(synonymous variant)
Polyglandular autoimmune syndrome, type 1
GLikely benign
AIRE
(A5T)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GUncertain significance
AIRE
(A5L)
Indel
(missense variant)
Polyglandular autoimmune syndrome, type 1
GUncertain significance
AIRE
Single nucleotide variant
(synonymous variant)
Polyglandular autoimmune syndrome, type 1
GLikely benign
AIRE
(L7fs)
Deletion
(frameshift variant)
Polyglandular autoimmune syndrome, type 1
GLikely pathogenic
AIRE
Single nucleotide variant
(synonymous variant)
Polyglandular autoimmune syndrome, type 1
GLikely benign
AIRE
Deletion
(inframe_deletion)
Polyglandular autoimmune syndrome, type 1
GPathogenic
AIRE
Duplication
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
AIRE
Single nucleotide variant
(synonymous variant)
Polyglandular autoimmune syndrome, type 1
GLikely benign
AIRE
Single nucleotide variant
(synonymous variant)
Polyglandular autoimmune syndrome, type 1
GLikely benign
AIRE
(R8C)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
+1 more
GConflicting classifications of pathogenicity
AIRE
(R8H)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GLikely pathogenic
AIRE
Single nucleotide variant
(synonymous variant)
Polyglandular autoimmune syndrome, type 1
GLikely benign
AIRE
(R9W)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GLikely pathogenic
AIRE
(R9P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
AIRE
Single nucleotide variant
(synonymous variant)
Polyglandular autoimmune syndrome, type 1
GLikely benign
AIRE
Single nucleotide variant
(synonymous variant)
Polyglandular autoimmune syndrome, type 1
GLikely benign
AIRE
(R12G)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
AIRE
(R12fs)
Deletion
(frameshift variant)
Polyglandular autoimmune syndrome, type 1
GPathogenic
AIRE
(H14P)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GUncertain significance
AIRE
Single nucleotide variant
(synonymous variant)
Polyglandular autoimmune syndrome, type 1
GLikely benign
AIRE
(R15G)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GLikely pathogenic
AIRE
(R15C)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GConflicting classifications of pathogenicity
AIRE
Duplication
(inframe_insertion)
Polyglandular autoimmune syndrome, type 1
GUncertain significance
AIRE
(R15H)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GLikely pathogenic
AIRE
(R15L)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GPathogenic
AIRE
Single nucleotide variant
(synonymous variant)
Polyglandular autoimmune syndrome, type 1
GLikely benign
AIRE
(T16A)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GLikely pathogenic
AIRE
(T16M)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GPathogenic
AIRE
Single nucleotide variant
(synonymous variant)
Polyglandular autoimmune syndrome, type 1
GLikely benign
AIRE
(E17D)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GUncertain significance
AIRE
(I18M)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GLikely pathogenic
AIRE
(A19T)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GUncertain significance
AIRE
Single nucleotide variant
(synonymous variant)
Polyglandular autoimmune syndrome, type 1
GLikely benign
AIRE
(A21fs)
Deletion
(frameshift variant)
Polyglandular autoimmune syndrome, type 1
GLikely pathogenic
AIRE
(A21V)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GPathogenic/Likely pathogenic
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