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Items: 51

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
RHOBTB1
(R563T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(R550G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(R545H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(R512L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(H490Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(Y600H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(M536V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(K413N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(N530Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(K380E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(K465T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(M333T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(K306E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(T300A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(R412W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(G253R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(K227T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RHOBTB1
(E192K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(P119L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(A118S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(G62V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(R175Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(V135I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHOBTB1
(T41M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHOBTB1
(V18A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHOBTB1
(I15L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADO, ARID5B
+78 more
Copy number gain
See cases
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
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