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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
FAM163A, FAM20B
+482 more
Copy number gain
See cases
GPathogenic
MYOC, MYOCOS
+540 more
Copy number loss
See cases
GPathogenic
LOC129932082, LOC129932083
+561 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+513 more
Copy number gain
See cases
GPathogenic
ABL2, ACBD6
+347 more
Copy number loss
See cases
GPathogenic
MIR488, MR1
+456 more
Copy number loss
See cases
GPathogenic
LOC129932021, LOC129932022
+478 more
Copy number loss
See cases
GPathogenic
TOR1AIP2
(G173S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TOR1AIP2
(H101Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOR1AIP2
(S45F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC112577517, TOR1AIP1
+1 more
(E62fs)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2Y
GPathogenic
ACBD6, AXDND1
+29 more
Deletion
not provided
GPathogenic
ABL2, ACBD6
+123 more
Copy number loss
not specified
GPathogenic
ABL2, ACBD6
+52 more
Copy number gain
not specified
GPathogenic
ACBD6, APOBEC4
+48 more
Copy number loss
not provided
GPathogenic
ACBD6, APOBEC4
+98 more
Copy number loss
not specified
GPathogenic
ABL2, ACBD6
+82 more
Copy number loss
not specified
GPathogenic
BRINP2, BRINP3
+101 more
Copy number loss
not specified
GPathogenic
METTL13, MIR199A2
+68 more
Copy number loss
not specified
GPathogenic
ACBD6, AXDND1
+29 more
Duplication
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
ABL2, ACBD6
+56 more
Copy number loss
not provided
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
ABL2, ACBD6
+52 more
Copy number gain
not provided
GPathogenic
ABL2, ACBD6
+88 more
Copy number loss
not provided
GPathogenic
ABL2, ACBD6
+70 more
Copy number gain
not provided
GPathogenic
ANKRD45, ASTN1
+61 more
Deletion
1q24q25 microdeletion syndrome
GPathogenic
ABL2, ACBD6
+71 more
Copy number gain
See cases
GLikely pathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
DENND1B, DHX9
+83 more
Copy number loss
See cases
GPathogenic
SUCO, TADA1
+147 more
Copy number loss
See cases
GPathogenic
ACBD6, APOBEC4
+30 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+46 more
Copy number loss
See cases
GPathogenic
TOR3A, TOR1AIP1
+19 more
Copy number loss
Abnormal esophagus morphology
GLikely benign
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