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Items: 46

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
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
H19, H19-ICR
+1 more
Copy number gain
See cases
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
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
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
(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
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-ICR, MRPL23
Deletion
Beckwith-Wiedemann syndrome
Gnot provided
H19-ICR, MRPL23
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
H19-ICR
Deletion
Beckwith-Wiedemann syndrome
GPathogenic
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