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Items: 84

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
A1CF, ADO
+561 more
Copy number gain
See cases
GPathogenic
LOC130003758, LOC130003759
+309 more
Copy number gain
See cases
GPathogenic
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
FAM170B, FAM170B-AS1
+306 more
Copy number gain
See cases
GPathogenic
AGAP4, AGAP6
+122 more
Deletion
10q11.22q11.23 deletion syndrome
GLikely pathogenic
AGAP10, AGAP4
+118 more
Copy number loss
See cases
GPathogenic
AGAP10, AGAP4
+125 more
Copy number loss
See cases
GPathogenic
RBP3, SLC18A3
+123 more
Copy number loss
See cases
GPathogenic
AGAP10, AGAP4
+122 more
Copy number loss
See cases
GUncertain significance
AGAP4, AGAP6
+122 more
Copy number loss
Pulmonary arterial hypertension
GLikely pathogenic
AGAP10, AGAP4
+121 more
Copy number loss
See cases
GLikely pathogenic
AGAP10, AGAP6
+119 more
Copy number gain
See cases
GUncertain significance
AGAP10, AGAP9
+114 more
Copy number loss
See cases
GLikely pathogenic
AGAP9, ANTXRL
+113 more
Copy number loss
See cases
GLikely pathogenic
AGAP10, AGAP9
+114 more
Copy number loss
See cases
GPathogenic
AGAP6, AGAP9
+147 more
Copy number loss
See cases
GPathogenic
AGAP9, ANTXRL
+112 more
Copy number loss
See cases
GLikely pathogenic
AGAP9, ANTXRL
+112 more
Copy number loss
See cases
GUncertain significance
AGAP9, ANTXRL
+112 more
Copy number gain
See cases
GPathogenic
MSMB
(E99G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSMB
(P76L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSMB
(S50L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSMB
(N27S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSMB
Single nucleotide variant
Prostate cancer, hereditary, 13
Grisk factor
AGAP6, ARHGAP22
+25 more
Copy number gain
not provided
GUncertain significance
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
C10orf71, CHAT
+22 more
Deletion
Cockayne syndrome type 2
GPathogenic
AGAP10, AGAP4
+37 more
Copy number loss
See cases
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
AGAP10, AGAP6
+35 more
Copy number gain
not provided
GUncertain significance
MSMB, NCOA4
+1 more
Copy number gain
not provided
GUncertain significance
AGAP10, AGAP4
+37 more
Copy number loss
not provided
GLikely pathogenic
AGAP10, AGAP9
+32 more
Copy number loss
not provided
GLikely pathogenic
MSMB, NCOA4
+1 more
Copy number gain
not provided
GUncertain significance
PGBD3, PTPN20
+27 more
Copy number loss
not provided
GLikely pathogenic
PGBD3, PTPN20
+34 more
Copy number gain
not provided
GUncertain significance
AGAP10, AGAP4
+35 more
Copy number loss
See cases
GPathogenic
ASAH2, AGAP6
+22 more
Copy number loss
See cases
GPathogenic
AGAP10, AGAP9
+32 more
Copy number loss
Telangiectasia, hereditary hemorrhagic, type 5
GPathogenic
MSMB, NCOA4
+1 more
Copy number loss
not provided
GLikely benign
FAM170B, FAM25C
+25 more
Copy number gain
not provided
GPathogenic
AGAP10, AGAP6
+34 more
Copy number loss
not provided
GLikely pathogenic
MSMB, NCOA4
+2 more
Copy number gain
not provided
GUncertain significance
AGAP10, AGAP9
+29 more
Copy number loss
not provided
GLikely pathogenic
SLC18A3, SYT15
+33 more
Copy number loss
10q11.22q11.23 microdeletion including CHAT and SLC18A3
GPathogenic
CHAT, DRGX
+23 more
Deletion
Megacolon
GLikely pathogenic
AGAP10, AGAP4
+33 more
Copy number loss
not provided
Gnot provided
TIMM23, C10orf71
+50 more
Copy number loss
not provided
GPathogenic
MSMB, NCOA4
+1 more
Copy number loss
not provided
GUncertain significance
AGAP10, AGAP4
+37 more
Copy number gain
not provided
GUncertain significance
AGAP6, ANXA8
+27 more
Copy number gain
not provided
GUncertain significance
MSMB, NCOA4
+1 more
Copy number loss
not provided
GUncertain significance
AGAP10, AGAP6
+34 more
Copy number gain
not provided
GUncertain significance
AGAP10, AGAP4
+37 more
Copy number loss
not provided
GPathogenic
AGAP10, AGAP6
+34 more
Copy number loss
not provided
GPathogenic
AGAP6, ARHGAP22
+22 more
Copy number gain
not provided
GUncertain significance
AGAP10, AGAP9
+29 more
Copy number gain
not provided
GPathogenic
AGAP10, AGAP9
+32 more
Copy number loss
not provided
GPathogenic
MSMB, MTRNR2L5
+33 more
Copy number loss
not provided
GLikely pathogenic
NPY4R, OGDHL
+37 more
Copy number loss
not provided
GLikely pathogenic
AGAP10, AGAP4
+37 more
Copy number loss
not provided
GPathogenic
AGAP10, AGAP6
+34 more
Copy number loss
not provided
GPathogenic
NCOA4, NPY4R
+34 more
Copy number loss
not provided
GLikely pathogenic
AGAP10, AGAP6
+33 more
Copy number gain
not provided
GLikely pathogenic
AGAP10, AGAP9
+32 more
Copy number loss
not provided
GPathogenic
PARG, MSMB
+2 more
Copy number loss
not provided
GUncertain significance
NCOA4, PARG
+2 more
Copy number loss
not provided
GUncertain significance
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
CCDC6, ZNF32
+75 more
Inversion
Pediatric metastatic thyroid tumour
GLikely pathogenic
AGAP10, AGAP6
+34 more
Copy number gain
See cases
GUncertain significance
MSMB, NCOA4
+2 more
Copy number loss
See cases
GLikely benign
ASAH2, C10orf53
+22 more
Copy number gain
See cases
GUncertain significance
AGAP10, AGAP6
+34 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
AGAP10, AGAP6
+34 more
Copy number loss
See cases
GLikely pathogenic
AGAP10, AGAP6
+33 more
Copy number loss
See cases
GLikely pathogenic
AGAP10, AGAP6
+34 more
Copy number gain
See cases
GUncertain significance
AGAP6, ARHGAP22
+22 more
Copy number gain
See cases
GLikely pathogenic
AGAP10, AGAP4
+35 more
Copy number loss
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
AGAP10, AGAP4
+35 more
Copy number gain
See cases
GPathogenic
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