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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A1CF, ADO
+561 more
Copy number gain
See cases
GPathogenic
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
ADO, ANK3
+227 more
Copy number gain
See cases
GPathogenic
LOC129390190, LOC129390191
+610 more
Copy number loss
See cases
GPathogenic
LOC124403968, LOC124403969
+220 more
Deletion
Intellectual developmental disorder, autosomal dominant 70
GLikely pathogenic
NRBF2
(L22V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRBF2
(A37T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRBF2
(A38T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRBF2
(A43T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRBF2
(E71K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRBF2
(A84V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NRBF2
(A176T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRBF2
(E178D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRBF2
(L192V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRBF2
(I201V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NRBF2
(K213E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRBF2
(D206N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRBF2
(A243G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRBF2
(N250K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRBF2
(F274I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A1CF, ADO
+51 more
Copy number loss
not provided
GPathogenic
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
EGR2, JMJD1C
+1 more
Deletion
Early myoclonic encephalopathy
+1 more
GUncertain significance
CDK1, CABCOCO1
+11 more
Copy number loss
not provided
GUncertain significance
MTRNR2L5, TMEM26
+23 more
Copy number loss
not provided
GPathogenic
TIMM23, C10orf71
+50 more
Copy number loss
not provided
GPathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
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