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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
LOC130009892, LOC130009893
+2050 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
LOC130009419, LOC130009420
+567 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
LOC126861730, LOC126861731
+489 more
Copy number gain
See cases
GPathogenic
LOC130009309, LOC130009310
+2041 more
Copy number gain
See cases
GPathogenic
LOC130009490, LOC130009491
+416 more
Copy number gain
See cases
GPathogenic
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
LOC132090185, LOC132090186
+621 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
CDX2, FLT1
+123 more
Copy number gain
See cases
GLikely pathogenic
ALOX5AP, B3GLCT
+203 more
Copy number loss
See cases
GPathogenic
ALG5, ALOX5AP
+211 more
Copy number gain
See cases
GPathogenic
LINC00426, LINC00427
+118 more
Copy number loss
See cases
GPathogenic
UBL3
(R65Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBL3
(K20R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LINC00297, LOC130009477
+5 more
Copy number gain
See cases
GLikely benign
UBL3
(P6R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBL3
(S3N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDX2, AMER2
+82 more
Copy number gain
not provided
GUncertain significance
ALOX5AP, B3GLCT
+12 more
Copy number gain
not provided
GUncertain significance
B3GLCT, HS6ST3
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not specified
GPathogenic
VPS36, VWA8
+329 more
Copy number gain
not specified
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
DACH1, IRS2
+332 more
Copy number gain
See cases
GPathogenic
ALOX5AP, FLT1
+11 more
Copy number loss
13q12.2q12.3 deletion
GLikely pathogenic
ALOX5AP, B3GLCT
+22 more
Copy number loss
not provided
GPathogenic
CENPJ, CHAMP1
+332 more
Copy number gain
See cases
GPathogenic
AMER2, GTF3A
+40 more
Copy number gain
not provided
GLikely pathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
NUDT15, NUFIP1
+211 more
Copy number gain
not provided
GPathogenic
CDK8, CDX2
+56 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
FGF9, FLT1
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
See cases
GPathogenic
CRYL1, CSNK1A1L
+332 more
Copy number gain
See cases
GPathogenic
GTF2F2, LINC00567
+332 more
Copy number gain
See cases
GPathogenic
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