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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A4GNT, ACAD11
+282 more
Copy number loss
See cases
GPathogenic
AMOTL2, ANAPC13
+102 more
Copy number loss
See cases
GPathogenic
A4GNT, ARMC8
+221 more
Copy number loss
See cases
GPathogenic
MSL2
(R450W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSL2
(Y410C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSL2
(S398fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
MSL2
(K376R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSL2
(K305fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
MSL2
(Q279* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MSL2
(S275fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
MSL2
(A262G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSL2
(S158C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSL2
(Q112fs +1 more)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
MSL2
(I110V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSL2
(H64fs)
Duplication
(5 prime UTR variant +1 more)
not provided
GUncertain significance
MSL2
(R39*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
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