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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
ANKRD28, ARL8B
+962 more
Copy number gain
See cases
GPathogenic
LOC129936377, LOC129936378
+1111 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+730 more
Copy number gain
See cases
GPathogenic
AZI2, CMC1
+11 more
Copy number gain
See cases
GLikely benign
ZCWPW2
(K3T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(S49T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(R67T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(N70S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(S72L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(Q86R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LINC00693, LOC126806638
+3 more
Copy number gain
See cases
GUncertain significance
ZCWPW2
(E136Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZCWPW2
(H138R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(K164R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(K169Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(N170K)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZCWPW2
(C183F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(Y186C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(I165V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(R190T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(K231Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(S246C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZCWPW2
(V201I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(T204M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCWPW2
(L326P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OXTR, PDCD6IP
+145 more
Copy number gain
not specified
GPathogenic
AZI2, CMC1
+1 more
Copy number gain
not provided
GUncertain significance
AZI2, CMC1
+1 more
Copy number loss
not provided
GUncertain significance
AZI2, CMC1
+1 more
Copy number gain
not specified
GUncertain significance
AZI2, CMC1
+20 more
Copy number loss
not specified
GLikely pathogenic
FANCD2OS, THUMPD3
+148 more
Copy number gain
not specified
GPathogenic
EFHB, EIF1B
+93 more
Deletion
not provided
GPathogenic
AZI2, CMC1
+1 more
Copy number gain
not provided
GUncertain significance
AZI2, EOMES
+6 more
Copy number loss
not provided
GUncertain significance
AZI2, CMC1
+1 more
Copy number gain
not provided
GUncertain significance
ABHD5, ACAA1
+135 more
Copy number gain
not provided
GPathogenic
FANCD2OS, FBLN2
+155 more
Copy number gain
See cases
GPathogenic
FBXL2, FBXO40
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ANKRD28, ARL8B
+145 more
Copy number gain
See cases
GPathogenic
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