U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
HLA-C
Single nucleotide variant
(splice donor variant)
not provided
Gnot provided
HLA-C
Single nucleotide variant
(splice acceptor variant)
not provided
Gnot provided
HLA-C
(D33Y)
Single nucleotide variant
(missense variant)
not provided
GBenign
HLA-C
Single nucleotide variant
(intron variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
HLA-C
(A24T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HLA-C
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HLA-C
Single nucleotide variant
HIV-1 viremia, susceptibility to
Grisk factor
ABHD16A, AGER
+172 more
Duplication
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
ABHD16A, AIF1
+63 more
Duplication
not provided
GUncertain significance
ABCF1, ABHD16A
+106 more
Deletion
Megacolon
GLikely pathogenic
ABHD16A, AGER
+117 more
Copy number gain
not provided
GLikely pathogenic
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
HLA-B, HLA-C
+1 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
CCHCR1, CDSN
+6 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
HLA-C
Variation
Psoriasis 1, susceptibility to
Grisk factor
Format
Items per page
Sort by
Choose Destination