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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
ABT1, BTN1A1
+344 more
Copy number gain
See cases
GUncertain significance
ZKSCAN3
(G33C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN3
(E56G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN3
(M79R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN3
(K82R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN3
(G114W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN3
(A150V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(A203T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(T222I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(G235V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZKSCAN3
(P116S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(G147S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(A324V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(H184R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(P193L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(E198D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZKSCAN3
(F351S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(I352L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(L357F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(H212R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(T245N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(Y250C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(S408T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(S412G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN3
(I372V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZKSCAN3, ZSCAN12
+1 more
Copy number loss
not provided
GUncertain significance
ABCF1, ABHD16A
+106 more
Deletion
Megacolon
GLikely pathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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