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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNNM2
(S365F)
Single nucleotide variant
(missense variant)
Hypomagnesemia, seizures, and intellectual disability 1
GBenign
CNNM2
(G339D)
Single nucleotide variant
(missense variant)
Hypomagnesemia, seizures, and intellectual disability 1
GUncertain significance
CNNM2
(R775* +1 more)
Single nucleotide variant
(nonsense)
Hypomagnesemia, seizures, and intellectual disability 1
GPathogenic
CNNM2
(S773L +1 more)
Single nucleotide variant
(missense variant)
Hypomagnesemia, seizures, and intellectual disability 1
GPathogenic
CNNM2
Deletion
(inframe_indel)
Hypomagnesemia, seizures, and intellectual disability 1
GPathogenic
CNNM2
Deletion
Hypomagnesemia, seizures, and intellectual disability 1
GPathogenic
CNNM2
(L418P)
Single nucleotide variant
(missense variant)
Hypomagnesemia, seizures, and intellectual disability 1
GPathogenic
CNNM2
(V324M)
Single nucleotide variant
(missense variant)
Hypomagnesemia, seizures, and intellectual disability 1
GPathogenic
CNNM2
(L321del)
Microsatellite
(inframe_deletion)
Hypomagnesemia, seizures, and intellectual disability 1
GPathogenic
CNNM2
(Y314*)
Single nucleotide variant
(nonsense)
Hypomagnesemia, seizures, and intellectual disability 1
GPathogenic
CNNM2
(L48P)
Single nucleotide variant
(missense variant)
Hypomagnesemia, seizures, and intellectual disability 1
GPathogenic
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