"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 445751	NM_031407.7(HUWE1):c.11497G>C (p.Gly3833Arg)	HUWE1 (G3833R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 129255	NM_031407.7(HUWE1):c.6031-4T>A	HUWE1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked syndromic, Turner type +3 more	GBenign/Likely benign
Select item 129254	NM_031407.7(HUWE1):c.5716+5G>A	HUWE1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked syndromic, Turner type +3 more	GBenign/Likely benign
Select item 445807	NM_031407.7(HUWE1):c.2262-17C>A	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 946607	NM_031407.7(HUWE1):c.647C>T (p.Thr216Ile)	HUWE1 (T216I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic

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