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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNRNPH2, RPL36A-HNRNPH2
(R206W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+6 more
GPathogenic/Likely pathogenic
HNRNPH2, RPL36A-HNRNPH2
(R206Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GPathogenic
HNRNPH2, RPL36A-HNRNPH2
(Y246C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, X-linked, syndromic, Bain type
GUncertain significance
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