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Items: 1 to 100 of 240

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130000015, LOC130000016
+3658 more
Copy number gain
See cases
GPathogenic
DEFA1B, DEFA3
+3658 more
Copy number gain
See cases
GPathogenic
LOC110121192, LOC110121196
+3656 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3652 more
Copy number gain
See cases
GPathogenic
LOC130000067, LOC130000068
+3656 more
Copy number gain
See cases
GPathogenic
GPAT4, GPAT4-AS1
+3106 more
Copy number gain
See cases
GPathogenic
PARP10, PCAT1
+1690 more
Copy number gain
See cases
GPathogenic
LOC130000867, LOC130000868
+1686 more
Copy number gain
See cases
GPathogenic
LOC130001282, LOC130001283
+1552 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1531 more
Copy number gain
See cases
GPathogenic
LOC130000908, LOC130000909
+1406 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1329 more
Copy number gain
See cases
GPathogenic
LOC130001243, LOC130001244
+1204 more
Copy number gain
See cases
GPathogenic
LOC130001328, LOC130001329
+1067 more
Copy number gain
See cases
GPathogenic
LOC114827840, LOC121331310
+961 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+746 more
Copy number gain
See cases
GPathogenic
LOC129390060, LOC129929031
+745 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+567 more
Copy number gain
See cases
GPathogenic
LOC126860527, LOC126860528
+499 more
Copy number gain
See cases
GPathogenic
LOC130001259, LOC130001260
+373 more
Copy number gain
See cases
GLikely pathogenic
MIR10400, MIR1234
+375 more
Copy number gain
See cases
GLikely pathogenic
ADGRB1, ARC
+172 more
Copy number loss
See cases
GPathogenic
ADGRB1, ARC
+140 more
Copy number loss
See cases
GPathogenic
BOP1, CCDC166
+87 more
Copy number loss
See cases
GPathogenic
PUF60
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
PUF60
(S498fs +9 more)
Microsatellite
(frameshift variant)
PUF60-related condition
GUncertain significance
PUF60
(D493G +9 more)
Single nucleotide variant
(missense variant)
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
GPathogenic
PUF60
(V482E +9 more)
Single nucleotide variant
(missense variant)
8q24.3 microdeletion syndrome
GLikely pathogenic
PUF60
(W476R +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PUF60
(H466fs +9 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
PUF60
(E464Q +9 more)
Single nucleotide variant
(missense variant)
PUF60-related condition
GUncertain significance
PUF60
(E544* +9 more)
Duplication
(nonsense)
8q24.3 microdeletion syndrome
GPathogenic
PUF60
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
PUF60
(A462V +9 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PUF60
(S460fs +9 more)
Deletion
(frameshift variant)
8q24.3 microdeletion syndrome
GLikely pathogenic
PUF60
Single nucleotide variant
(synonymous variant)
PUF60-related condition
GLikely benign
PUF60
(V457G +9 more)
Single nucleotide variant
(missense variant)
8q24.3 microdeletion syndrome
GLikely pathogenic
PUF60
(I498del +9 more)
Microsatellite
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
PUF60
(I437V +9 more)
Single nucleotide variant
(missense variant)
8q24.3 microdeletion syndrome
GUncertain significance
PUF60
(G491E +9 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PUF60
(G431R +9 more)
Single nucleotide variant
(missense variant)
8q24.3 microdeletion syndrome
+1 more
GPathogenic/Likely pathogenic
PUF60
(C427R +9 more)
Single nucleotide variant
(missense variant)
8q24.3 microdeletion syndrome
GLikely pathogenic
PUF60
(V483A +9 more)
Single nucleotide variant
(missense variant)
8q24.3 microdeletion syndrome
GPathogenic
PUF60
Single nucleotide variant
(synonymous variant)
PUF60-related condition
GLikely benign
PUF60
(R407C +9 more)
Single nucleotide variant
(missense variant)
PUF60-related condition
GUncertain significance
PUF60
(R407G +9 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
PUF60
(T402A +9 more)
Single nucleotide variant
(missense variant)
8q24.3 microdeletion syndrome
GUncertain significance
PUF60
Microsatellite
(splice acceptor variant)
8q24.3 microdeletion syndrome
GUncertain significance
PUF60
Single nucleotide variant
(splice acceptor variant)
8q24.3 microdeletion syndrome
+1 more
GLikely pathogenic
PUF60
Single nucleotide variant
(intron variant)
PUF60-related condition
GLikely benign
PUF60
(Q399R +9 more)
Single nucleotide variant
(missense variant)
8q24.3 microdeletion syndrome
GUncertain significance
PUF60
(Q393* +9 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PUF60
(R448* +9 more)
Single nucleotide variant
(nonsense)
8q24.3 microdeletion syndrome
+1 more
GPathogenic
PUF60
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
PUF60
(S383L +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PUF60
(S443* +9 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PUF60
(Q437* +9 more)
Single nucleotide variant
(nonsense)
8q24.3 microdeletion syndrome
GPathogenic
PUF60
(P371Q +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PUF60
(P371L +9 more)
Single nucleotide variant
(missense variant)
8q24.3 microdeletion syndrome
GUncertain significance
PUF60
(R429L +9 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PUF60
(P366S +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PUF60
(E423del +9 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
PUF60
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PUF60
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PUF60
(T446K +9 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PUF60
(P347L +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PUF60
(S336L +9 more)
Single nucleotide variant
(missense variant)
8q24.3 microdeletion syndrome
GUncertain significance
PUF60
(S336* +9 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PUF60
(P335fs +9 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
PUF60
(V332A +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PUF60
(P331L +9 more)
Single nucleotide variant
(missense variant)
PUF60-related condition
GUncertain significance
PUF60
(P343del +9 more)
Microsatellite
(inframe_deletion)
not provided
GLikely benign
PUF60
(P325fs +9 more)
Deletion
(frameshift variant)
8q24.3 microdeletion syndrome
GPathogenic
PUF60
(R327G +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PUF60
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PUF60
(Q315* +9 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PUF60
(T337fs +9 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
PUF60
(G348A +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PUF60
(L318fs +9 more)
Indel
(frameshift variant)
8q24.3 microdeletion syndrome
GPathogenic
PUF60
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PUF60
(P291A +9 more)
Single nucleotide variant
(missense variant)
PUF60-related condition
GUncertain significance
PUF60
(G289A +9 more)
Single nucleotide variant
(missense variant)
8q24.3 microdeletion syndrome
GUncertain significance
PUF60
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PUF60
(G281R +9 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PUF60
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
PUF60
(K314fs +9 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PUF60
(T251fs +9 more)
Insertion
(frameshift variant)
not provided
GLikely pathogenic
PUF60
(T251fs +9 more)
Deletion
(frameshift variant)
8q24.3 microdeletion syndrome
GLikely pathogenic
PUF60
(P245L +9 more)
Single nucleotide variant
(missense variant)
8q24.3 microdeletion syndrome
GUncertain significance
PUF60
(K301* +9 more)
Single nucleotide variant
(nonsense)
8q24.3 microdeletion syndrome
GPathogenic
PUF60
(V239E +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PUF60
(M227fs +9 more)
Duplication
(frameshift variant)
8q24.3 microdeletion syndrome
GPathogenic
PUF60
(S225fs +9 more)
Microsatellite
(frameshift variant)
8q24.3 microdeletion syndrome
GPathogenic
PUF60
(A223fs +9 more)
Deletion
(frameshift variant)
8q24.3 microdeletion syndrome
GPathogenic
PUF60
(Q221* +9 more)
Single nucleotide variant
(nonsense)
8q24.3 microdeletion syndrome
GLikely pathogenic
PUF60
(Y214* +9 more)
Single nucleotide variant
(nonsense)
8q24.3 microdeletion syndrome
GPathogenic
PUF60
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PUF60
Single nucleotide variant
(intron variant)
PUF60-related condition
GLikely benign
PUF60
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PUF60
(G208fs +9 more)
Deletion
(frameshift variant)
8q24.3 microdeletion syndrome
GLikely pathogenic
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