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Items: 1 to 100 of 1048

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB10, ACBD3
+1427 more
Copy number gain
See cases
GPathogenic
OR2M4, OR2M5
+1351 more
Copy number gain
See cases
GPathogenic
LOC129932493, LOC129932494
+1325 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1167 more
Copy number gain
See cases
GPathogenic
LOC129932930, LOC129932931
+967 more
Copy number gain
See cases
GPathogenic
LOC129932702, LOC129932703
+954 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+954 more
Copy number gain
See cases
GPathogenic
LOC129932675, LOC129932676
+952 more
Copy number gain
See cases
GPathogenic
ADSS2, AGT
+951 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+949 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+869 more
Copy number gain
See cases
GPathogenic
OR2T27, OR2T29
+655 more
Copy number gain
See cases
GPathogenic
LOC129932908, LOC129932909
+270 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
ACTN2, ADSS2
+301 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+282 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+279 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
ADSS2, AHCTF1
+277 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+276 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+276 more
Copy number loss
See cases
GPathogenic
SNORA100, SPMIP3
+274 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
LOC128598893, LOC128598894
+273 more
Copy number gain
See cases
GPathogenic
LOC122152349, LOC122152350
+272 more
Copy number loss
See cases
GPathogenic
OR11L1, OR13G1
+264 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+183 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
LOC129932970, LOC129932971
+253 more
Copy number loss
See cases
GPathogenic
ADSS2, AKT3
+76 more
Copy number gain
See cases
GLikely pathogenic
ADSS2, AHCTF1
+243 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
ADSS2, AHCTF1
+118 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
ADSS2, AKT3
+65 more
Copy number gain
See cases
GUncertain significance
ADSS2, AHCTF1
+237 more
Copy number gain
See cases
GPathogenic
LOC122152355, LOC122152356
+230 more
Copy number gain
See cases
GPathogenic
LINC01743, LINC02774
+235 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
+226 more
Copy number loss
See cases
GPathogenic
ADSS2, C1orf202
+47 more
Copy number loss
See cases
GPathogenic
OR2L2, OR2L3
+202 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)
Developmental and epileptic encephalopathy, 54
+1 more
GBenign/Likely benign
HNRNPU
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 54
GLikely pathogenic
HNRNPU
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 54
+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)
Developmental and epileptic encephalopathy, 54
+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
(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)
Developmental and epileptic encephalopathy, 54
+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)
Developmental and epileptic encephalopathy, 54
+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)
Developmental and epileptic encephalopathy, 54
+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)
Developmental and epileptic encephalopathy, 54
+1 more
GUncertain significance
HNRNPU
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 54
GLikely benign
HNRNPU
(M757I +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 54
GUncertain significance
HNRNPU
(G755S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 54
GUncertain significance
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