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Items: 1 to 100 of 1078

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB10, ACBD3
+1428 more
Copy number gain
See cases
GPathogenic
LOC120908923, LOC120947224
+1352 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1326 more
Copy number gain
See cases
GPathogenic
LOC129932855, LOC129932856
+1168 more
Copy number gain
See cases
GPathogenic
TARBP1, TBCE
+968 more
Copy number gain
See cases
GPathogenic
LINC02765, LINC02768
+955 more
Copy number gain
See cases
GPathogenic
LOC440742, LYPD8
+955 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+953 more
Copy number gain
See cases
GPathogenic
LOC129932825, LOC129932826
+952 more
Copy number gain
See cases
GPathogenic
LOC129932658, LOC129932659
+950 more
Copy number gain
See cases
GPathogenic
LOC126806053, LOC126806054
+870 more
Copy number gain
See cases
GPathogenic
ABCB10, ACTA1
+656 more
Copy number gain
See cases
GPathogenic
ACTN2, ADSS2
+271 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
ACTN2, ADSS2
+302 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+283 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+280 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+280 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+279 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+278 more
Copy number loss
See cases
GPathogenic
LOC132088686, LOC440742
+277 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+277 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+275 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
KMO, LINC01341
+274 more
Copy number gain
See cases
GPathogenic
ADSS2, AHCTF1
+273 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+265 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+184 more
Copy number loss
See cases
GPathogenic
ADSS2, AKT3
+87 more
Copy number gain
See cases
GPathogenic
ADSS2, AKT3
+87 more
Copy number loss
See cases
GPathogenic
OR2T34, OR2T35
+254 more
Copy number loss
See cases
GPathogenic
ADSS2, AKT3
+76 more
Copy number gain
See cases
GLikely pathogenic
ADSS2, AHCTF1
+244 more
Copy number loss
See cases
GPathogenic
ADSS2, AKT3
+73 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
ADSS2, AKT3
+70 more
Copy number loss
See cases
GPathogenic
ADSS2, AKT3
+73 more
Copy number loss
See cases
GPathogenic
LOC126806079, LOC126806080
+119 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
ADSS2, AKT3
+65 more
Copy number gain
See cases
GUncertain significance
TFB2M, TRE-CTC2-1
+238 more
Copy number gain
See cases
GPathogenic
ADSS2, AHCTF1
+231 more
Copy number gain
See cases
GPathogenic
TRIM58, TRL-CAA4-1
+236 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
ADSS2, AKT3
+66 more
Copy number loss
See cases
GPathogenic
ADSS2, AKT3
+44 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+227 more
Copy number loss
See cases
GPathogenic
ADSS2, C1orf202
+47 more
Copy number loss
See cases
GPathogenic
AHCTF1, C1orf202
+203 more
Copy number loss
See cases
GPathogenic
C1orf202, COX20
+31 more
Copy number loss
See cases
GPathogenic
HNRNPU, SNORA100
Duplication
(non-coding transcript variant +1 more)
not provided
GBenign
HNRNPU, SNORA100
Duplication
(3 prime UTR variant +1 more)
not provided
GLikely benign
HNRNPU, SNORA100
Deletion
(non-coding transcript variant +1 more)
not provided
GLikely benign
HNRNPU, LOC129932913
Deletion
heterogeneous nuclear ribonucleoprotein G, human
GPathogenic
HNRNPU
(Y805* +1 more)
Indel
(nonsense)
Developmental and epileptic encephalopathy, 54
GPathogenic
HNRNPU
(Q822H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 54
+1 more
GUncertain significance
HNRNPU
(Q803* +1 more)
Single nucleotide variant
(nonsense)
Myoclonic absence seizure
+1 more
GBenign/Likely benign
HNRNPU
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
(F810L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HNRNPU
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 54
GLikely pathogenic
HNRNPU
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
HNRNPU
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 54
GLikely pathogenic
HNRNPU
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
HNRNPU
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
(Q788H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
(N803S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 54
GUncertain significance
HNRNPU
(Y783H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 54
GUncertain significance
HNRNPU
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
(N797fs +1 more)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 54
GUncertain significance
HNRNPU
(N778fs +1 more)
Deletion
(frameshift variant)
Seizure
GPathogenic
HNRNPU
(N797S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
(N773S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
(N773H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HNRNPU
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
HNRNPU
(R770Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HNRNPU
(R770* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
HNRNPU
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Single nucleotide variant
(intron variant)
See cases
GUncertain significance
HNRNPU
Indel
(intron variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Microsatellite
(intron variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Microsatellite
(intron variant)
not provided
GBenign
HNRNPU
Single nucleotide variant
(intron variant)
not provided
GBenign
HNRNPU
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
HNRNPU
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
(Q765P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HNRNPU
(Q765E +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
(N783H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 54
GUncertain significance
HNRNPU
(N764Y +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 54
GUncertain significance
HNRNPU
(N762T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
(N762D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HNRNPU
Deletion
(inframe_deletion)
Developmental and epileptic encephalopathy, 54
GUncertain significance
HNRNPU
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
(N759S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HNRNPU
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
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