U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ABHD8, ADGRE2
+695 more
Copy number gain
See cases
GPathogenic
ABHD8, AKAP8
+574 more
Copy number gain
See cases
GPathogenic
LOC130064154, LOC130064155
+625 more
Copy number gain
See cases
GPathogenic
NR2C2AP, RFXANK
Single nucleotide variant
(3 prime UTR variant +1 more)
MHC class II deficiency
GLikely benign
RFXANK, NR2C2AP
Single nucleotide variant
(3 prime UTR variant +1 more)
MHC class II deficiency
GLikely benign
NR2C2AP, RFXANK
Single nucleotide variant
(3 prime UTR variant +1 more)
MHC class II deficiency
GLikely benign
NR2C2AP, RFXANK
Single nucleotide variant
(3 prime UTR variant +1 more)
MHC class II deficiency
GLikely benign
NR2C2AP, RFXANK
Single nucleotide variant
(3 prime UTR variant +1 more)
MHC class II deficiency
GLikely benign
NR2C2AP, RFXANK
Single nucleotide variant
(3 prime UTR variant +2 more)
MHC class II deficiency
GPathogenic/Likely pathogenic
NR2C2AP, RFXANK
(V218L +5 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
MHC class II deficiency
GUncertain significance
RFXANK, NR2C2AP
(I242M +5 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
MHC class II deficiency
GUncertain significance
NR2C2AP, RFXANK
(L225F +5 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
NR2C2AP, RFXANK
Single nucleotide variant
(3 prime UTR variant +2 more)
MHC class II deficiency
GLikely benign
NR2C2AP, RFXANK
(L227V +5 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
NR2C2AP, RFXANK
(Q251E +5 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
MHC class II deficiency
+1 more
GBenign/Likely benign
RFXANK, NR2C2AP
(S277G +5 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
MHC class II deficiency
GUncertain significance
NR2C2AP, RFXANK
Single nucleotide variant
(3 prime UTR variant +2 more)
MHC class II deficiency
GLikely benign
RFXANK, NR2C2AP
Single nucleotide variant
(3 prime UTR variant +2 more)
MHC class II deficiency
GLikely benign
NR2C2AP, RFXANK
Single nucleotide variant
(3 prime UTR variant +2 more)
MHC class II deficiency
GConflicting classifications of pathogenicity
RFXANK, NR2C2AP
(P234S +5 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
MHC class II deficiency
GUncertain significance
NR2C2AP, RFXANK
(A234S +5 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
NR2C2AP, RFXANK
(D236E +5 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
NR2C2AP, RFXANK
(P237S +5 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
MHC class II deficiency
GLikely benign
NR2C2AP, RFXANK
(E237K +5 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
MHC class II deficiency
+1 more
GUncertain significance
NR2C2AP, RFXANK
Single nucleotide variant
(3 prime UTR variant +1 more)
MHC class II deficiency
GLikely benign
NR2C2AP, RFXANK
Single nucleotide variant
(3 prime UTR variant +1 more)
MHC class II deficiency
GBenign
NR2C2AP
(L100H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NR2C2AP
(N98Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NR2C2AP
(R74W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NR2C2AP
(D42E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NR2C2AP
(S12N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NR2C2AP
(T10I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NR2C2AP
(P8S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARMC6, ATP13A1
+36 more
Copy number loss
not specified
GUncertain significance
ISYNA1, JAK3
+44 more
Duplication
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
BORCS8, HAPLN4
+9 more
Copy number gain
not provided
GUncertain significance
ARMC6, BORCS8
+13 more
Deletion
Progressive myoclonic epilepsy type 8
GUncertain significance
NR2C2AP, RFXANK
Duplication
MHC class II deficiency
GUncertain significance
BST2, NWD1
+158 more
Copy number gain
not provided
GPathogenic
BORCS8, HAPLN4
+8 more
Copy number gain
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ATP13A1, BORCS8
+49 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
Format
Items per page
Sort by
Choose Destination