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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADCY10, ALDH9A1
+406 more
Copy number loss
See cases
GPathogenic
LOC129388624, LOC129388625
+407 more
Copy number loss
See cases
GPathogenic
FAM163A, FAM20B
+482 more
Copy number gain
See cases
GPathogenic
ADCY10, ANKRD45
+332 more
Copy number loss
See cases
GPathogenic
ANKRD45, ATP1B1
+232 more
Copy number loss
See cases
GPathogenic
ANKRD45, ASTN1
+239 more
Copy number loss
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
KLHL20, LOC129388638
+84 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
TNFSF4
(G117S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNFSF4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TNFSF4
(L129V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNFSF4
(S66N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNFSF4
(V38M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNFSF4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TNFSF4
(R55Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ANKRD45, C1orf105
+22 more
Duplication
not provided
GUncertain significance
ABL2, ACBD6
+123 more
Copy number loss
not specified
GPathogenic
ABL2, ACBD6
+52 more
Copy number gain
not specified
GPathogenic
ADCY10, ALDH9A1
+81 more
Copy number loss
not provided
GPathogenic
BRINP2, BRINP3
+101 more
Copy number loss
not specified
GPathogenic
ANKRD45, C1orf105
+26 more
Copy number loss
not specified
GPathogenic
METTL13, MIR199A2
+68 more
Copy number loss
not specified
GPathogenic
ANKRD45, C1orf105
+22 more
Duplication
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
GAS5, KLHL20
+22 more
Deletion
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
ABL2, ACBD6
+52 more
Copy number gain
not provided
GPathogenic
TNFSF4
Copy number loss
not provided
GUncertain significance
METTL13, METTL18
+60 more
Copy number loss
not provided
GPathogenic
TNFSF4
Copy number loss
not provided
GUncertain significance
ADCY10, ALDH9A1
+137 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
TNFSF4
Copy number loss
not provided
GLikely benign
ANKRD45, ATP1B1
+51 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
SUCO, TADA1
+147 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+46 more
Copy number loss
See cases
GPathogenic
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