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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RBMX
(Y187*)
Duplication
(nonsense)
Severe X-linked intellectual disability, Gustavson type
GUncertain significance
RBMX
(D130Y)
Single nucleotide variant
(missense variant +2 more)
Severe X-linked intellectual disability, Gustavson type
GLikely pathogenic
RBMX
(P162del)
Microsatellite
(inframe_deletion +2 more)
Severe X-linked intellectual disability, Gustavson type
GPathogenic
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