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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
GABBR1, HCG14
+61 more
Copy number gain
See cases
GUncertain significance
OR2H2
(N63K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2H2
(Y121C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2H2
(R137L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2H2
(L138M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2H2
(I149T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2H2
(D169N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2H2
(L182P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2H2
(V197M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OR2H2
(F203L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2H2
(V206A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2H2
(I219T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2H2
(I226T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2H2
(A229T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2H2
(G304A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABBR1, HCG17
+23 more
Copy number gain
not provided
GUncertain significance
GABBR1, MAS1L
+16 more
Copy number loss
not specified
GUncertain significance
ABCF1, ABHD16A
+106 more
Deletion
Megacolon
GLikely pathogenic
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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