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Items: 1 to 100 of 104

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DENND5A, DNHD1
+723 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+204 more
Copy number gain
See cases
GPathogenic
A-GAMMA3'E, ANO9
+388 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+271 more
Copy number gain
See cases
GPathogenic
LOC130005164, LOC130005165
+332 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+266 more
Copy number gain
See cases
GPathogenic
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
ASCL2, BGLT3
+328 more
Deletion
Thalassemia, gamma-delta-beta
GPathogenic
AP2A2, BRSK2
+115 more
Copy number loss
See cases
GPathogenic
ASCL2, BRSK2
+129 more
Copy number loss
See cases
GPathogenic
C11orf21, CARS1
+115 more
Copy number gain
See cases
GPathogenic
H19, H19-ICR
+9 more
Copy number gain
See cases
GPathogenic
ASCL2, C11orf21
+83 more
Copy number loss
See cases
GUncertain significance
H19, H19-ICR
+9 more
Copy number gain
See cases
GBenign
ASCL2, C11orf21
+52 more
Copy number gain
See cases
GPathogenic
MRPL23, H19
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, HOTS
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, HOTS
+1 more
Copy number gain
See cases
GBenign
H19, HOTS
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
H19, HOTS
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GBenign
H19, HOTS
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, HOTS
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, HOTS
+1 more
Microsatellite
(non-coding transcript variant +1 more)
not provided
GUncertain significance
H19, HOTS
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, HOTS
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, HOTS
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, HOTS
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
H19, HOTS
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, MRPL23
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, MRPL23
Single nucleotide variant
(intron variant)
H19-related disorder
GLikely benign
H19, MRPL23
Deletion
(intron variant)
H19-related disorder
GLikely benign
H19, MRPL23
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
H19, MRPL23
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, MRPL23
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, MRPL23
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GBenign
H19, MIR675
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
MIR675-related disorder
GLikely benign
H19, MRPL23
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, MRPL23
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, MRPL23
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, MRPL23
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, MRPL23
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, MRPL23
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GBenign
H19, MRPL23
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GBenign
H19, MRPL23
Single nucleotide variant
(non-coding transcript variant +1 more)
H19-related disorder
GLikely benign
H19, H19-ICR
+1 more
Copy number gain
See cases
GBenign
MRPL23, H19
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GLikely benign
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GUncertain significance
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GLikely benign
H19, H19-ICR
+1 more
Deletion
Wilms tumor 2
+1 more
GPathogenic
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GLikely benign
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
Beckwith-Wiedemann syndrome
Gnot provided
H19, H19-ICR
+1 more
Single nucleotide variant
(genic upstream transcript variant)
not provided
Gnot provided
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GLikely benign
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GLikely benign
MRPL23, H19
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GUncertain significance
H19, H19-ICR
+1 more
Single nucleotide variant
(genic upstream transcript variant)
Beckwith-Wiedemann syndrome
Gnot provided
H19-ICR, H19
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GUncertain significance
H19, H19-ICR
+1 more
Single nucleotide variant
(genic upstream transcript variant)
Beckwith-Wiedemann syndrome
Gnot provided
MRPL23, H19
+1 more
Copy number gain
Wilms tumor 2
GPathogenic
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GUncertain significance
H19, H19-ICR
+1 more
Single nucleotide variant
(genic upstream transcript variant)
not provided
Gnot provided
H19, H19-ICR
+1 more
Single nucleotide variant
(genic upstream transcript variant)
Beckwith-Wiedemann syndrome
Gnot provided
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GUncertain significance
H19, H19-ICR
+1 more
Single nucleotide variant
(genic upstream transcript variant)
Beckwith-Wiedemann syndrome
Gnot provided
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GLikely benign
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GLikely benign
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GUncertain significance
H19, H19-ICR
+1 more
Single nucleotide variant
Beckwith-Wiedemann syndrome
Gnot provided
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GBenign
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GLikely benign
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GUncertain significance
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GLikely benign
H19, H19-ICR
+1 more
Single nucleotide variant
(intron variant)
H19-related disorder
GLikely benign
ANO9, AP2A2
+77 more
Duplication
Beckwith-Wiedemann syndrome
GUncertain significance
CARS1, CD151
+89 more
Copy number gain
not provided
GPathogenic
ANO9, AP2A2
+210 more
Copy number gain
Russell-Silver syndrome
GPathogenic
ASCL2, BRSK2
+32 more
Duplication
Autosomal recessive DOPA responsive dystonia
GUncertain significance
AP2A2, ART1
+65 more
Duplication
not provided
GUncertain significance
CTSD, H19
+5 more
Duplication
Neuronal ceroid lipofuscinosis
GUncertain significance
GATD1, IRF7
+52 more
Copy number gain
not provided
GPathogenic
H19
Copy number loss
not provided
GPathogenic
CAVIN3, CCKBR
+205 more
Copy number gain
not provided
GPathogenic
CYP2R1, DBX1
+308 more
Copy number gain
See cases
GPathogenic
CTSD, H19
+15 more
Copy number gain
Beckwith-Wiedemann syndrome
GPathogenic
ASCL2, C11orf21
+13 more
Copy number gain
not provided
GLikely pathogenic
IFITM5, SIGIRR
+137 more
Copy number gain
not provided
Gnot provided
ANO9, AP2A2
+89 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
AP2A2, BRSK2
+45 more
Duplication
Immunodeficiency 39
+1 more
GUncertain significance
ANO9, AP2A2
+109 more
Copy number gain
See cases
GPathogenic
CHRNA10, CNGA4
+208 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
TNNT3, ASCL2
+22 more
Copy number gain
not provided
GPathogenic
C11orf21, AP2A2
+63 more
Duplication
Neuronal ceroid lipofuscinosis
GUncertain significance
CALCB, CARS1
+343 more
Copy number gain
not provided
GPathogenic
C11orf40, C11orf42
+243 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
ADM, AKIP1
+258 more
Copy number gain
not provided
GPathogenic
AKIP1, ANO9
+222 more
Copy number gain
not provided
GPathogenic
DEAF1, DENND2B
+327 more
Copy number gain
See cases
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
H19
Copy number gain
See cases
GUncertain significance
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