"Fulgent Genetics, Fulgent Genetics"[submitter] AND "HUWE1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 424416	NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe)	HUWE1 (S4287F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 129249	NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=)	HUWE1	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked syndromic, Turner type +2 more	GBenign/Likely benign
Select item 280723	NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)	HUWE1 (R3070C)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +3 more	GPathogenic/Likely pathogenic
Select item 129255	NM_031407.7(HUWE1):c.6031-4T>A	HUWE1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked syndromic, Turner type +2 more	GBenign/Likely benign
Select item 1211318	NM_031407.7(HUWE1):c.6030+20G>A	HUWE1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked syndromic, Turner type +1 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 +2 more	GBenign/Likely benign
Select item 1197326	NM_031407.7(HUWE1):c.963+18T>C	HUWE1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked syndromic, Turner type +1 more	GBenign/Likely benign
Select item 129256	NM_031407.7(HUWE1):c.99A>G (p.Gln33=)	HUWE1	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked syndromic, Turner type +2 more	GBenign/Likely benign