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Items: 68

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
ADO, ARID5B
+78 more
Copy number gain
See cases
GUncertain significance
ZNF365
(A5P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
(C23Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
(P29L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
(C31Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
(S67Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
(T71R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
(P96L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
(H160Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
(R167Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
(Q189H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
(A192E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
(R216W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
(R235H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
Deletion
(intron variant)
not provided
GBenign
ZNF365
Single nucleotide variant
(intron variant)
not provided
GBenign
ZNF365
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC130003893, LOC130003894
+2 more
Copy number loss
See cases
GLikely benign
ZNF365
Single nucleotide variant
(intron variant)
not provided
GBenign
ZNF365
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ZNF365
(A269V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
(I275T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
(R302G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF365
Single nucleotide variant
(intron variant)
not provided
GBenign
ZNF365
Single nucleotide variant
(intron variant)
not provided
GBenign
ZNF365
(A337S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ZNF365
Single nucleotide variant
(intron variant)
not provided
GBenign
ZNF365
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ZNF365
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ZNF365
Single nucleotide variant
not provided
GBenign
ZNF365
Single nucleotide variant
not specified
GUncertain significance
ZNF365
Single nucleotide variant
not provided
GLikely benign
LOC126860945, ZNF365
Single nucleotide variant
not provided
GBenign
LOC126860945, ZNF365
Single nucleotide variant
not specified
GLikely benign
LOC126860945, ZNF365
Single nucleotide variant
not provided
GBenign
LOC126860945, ZNF365
Single nucleotide variant
not provided
GUncertain significance
LOC126860945, ZNF365
Single nucleotide variant
not provided
GBenign
LOC126860945, ZNF365
Single nucleotide variant
not provided
GBenign
LOC126860945, ZNF365
Single nucleotide variant
not provided
GBenign
ZNF365
Single nucleotide variant
not provided
GBenign
ZNF365
Single nucleotide variant
not provided
GBenign
ZNF365
Single nucleotide variant
not provided
GBenign
ZNF365
Single nucleotide variant
not provided
GLikely benign
ZNF365
Single nucleotide variant
not provided
GBenign
ZNF365
Single nucleotide variant
not provided
GBenign
ZNF365
Single nucleotide variant
not provided
GBenign
LOC132211101, ZNF365
Single nucleotide variant
not provided
GBenign
ANK3, ARID5B
+15 more
Copy number loss
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
ADO, ANK3
+18 more
Copy number loss
not provided
GUncertain significance
ADO, EGR2
+2 more
Copy number gain
not specified
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
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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