U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 30

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
CDK1
(L70V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK1
(I157L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK1
(I157V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CDK1
(S248N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK1
(K279R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANK3, ARID5B
+15 more
Copy number loss
not specified
GUncertain significance
A1CF, ADO
+51 more
Copy number loss
not provided
GPathogenic
ANK3, CDK1
+1 more
Copy number gain
not provided
GUncertain significance
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
ANK3, ARID5B
+8 more
Copy number loss
not provided
GUncertain significance
ADO, ANK3
+18 more
Copy number loss
not provided
GUncertain significance
CDK1, CABCOCO1
+11 more
Copy number loss
not provided
GUncertain significance
MTRNR2L5, TMEM26
+23 more
Copy number loss
not provided
GPathogenic
ANK3, PCDH15
+17 more
Copy number loss
not provided
GPathogenic
TIMM23, C10orf71
+50 more
Copy number loss
not provided
GPathogenic
ANK3, BICC1
+10 more
Copy number gain
not provided
GUncertain significance
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ANK3, ARID5B
+16 more
Copy number loss
See cases
GLikely pathogenic
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
Format
Items per page
Sort by
Choose Destination