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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129932021, LOC129932022
+478 more
Copy number loss
See cases
GPathogenic
LOC129932539, LOC129932540
+1148 more
Copy number gain
See cases
GPathogenic
ASPM, ATP6V1G3
+173 more
Copy number loss
See cases
GPathogenic
NEK7
(G7R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK7
(Q19R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK7
(A21S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK7
(R42C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK7
(S46N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK7
(V65M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK7
(N90S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK7
(N108H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK7
(V143A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK7
(S147G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK7
(M158L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK7
(H262Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK7
(D284G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPS6KC1, SERTAD4
+185 more
Deletion
not provided
GPathogenic
ADIPOR1, ADORA1
+57 more
Copy number loss
not specified
GLikely pathogenic
ASPM, IPO9
+211 more
Copy number gain
not provided
GPathogenic
CFHR3, CFHR4
+22 more
Copy number loss
not provided
GPathogenic
ASPM, ATP6V1G3
+28 more
Copy number loss
not provided
GLikely pathogenic
COA6, COG2
+381 more
Copy number gain
See cases
GPathogenic
ACBD6, APOBEC4
+98 more
Copy number loss
not specified
GPathogenic
ABL2, ACBD6
+82 more
Copy number loss
not specified
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
CD34, MDM4
+145 more
Copy number gain
not provided
Gnot provided
ABL2, ACBD6
+88 more
Copy number loss
not provided
GPathogenic
ASPM, ATP6V1G3
+18 more
Copy number loss
not provided
GUncertain significance
C4BPB, CACNA1S
+433 more
Copy number gain
not provided
GPathogenic
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
AVPR1B, B3GALNT2
+393 more
Copy number gain
See cases
GPathogenic
ACBD3, ADIPOR1
+242 more
Copy number gain
See cases
GPathogenic
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