U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
ANKAR, ASDURF
+312 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
ANKAR, ASDURF
+191 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+329 more
Copy number loss
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
NAB1
(P104S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(W106R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(A132V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(S138T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(V155A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(A182T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
NAB1
(E204G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(R205Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(P208S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(D214E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(I235V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(E237A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(A281V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(V285M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(T292S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(C321R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(V334M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(L348V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAB1
(K355E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126806448, LOC129935264
+2 more
Copy number gain
See cases
GUncertain significance
NAB1
(Q351R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(R356S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(H388D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(E391K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(R363G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(R399T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(E404K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(S413A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(D413G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(G388R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(P422T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(L447I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAB1
(K476N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
ANKAR, ASNSD1
+17 more
Duplication
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
+2 more
GUncertain significance
ABI2, ADAM23
+107 more
Copy number loss
not provided
GPathogenic
ANKAR, ANKRD44
+48 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ABI2, ACADL
+127 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
ANKAR, ASNSD1
+34 more
Copy number gain
not provided
GLikely pathogenic
OSGEPL1, STAT4
+38 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
AGPS, ANKAR
+86 more
Copy number loss
not provided
GPathogenic
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
ABCB11, AGPS
+125 more
Copy number loss
not provided
GPathogenic
ACSL3, ADAM23
+208 more
Duplication
Neurodevelopmental disorder
GPathogenic
NAB1
Copy number loss
not provided
GUncertain significance
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
AGPS, ANKAR
+62 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination