"Baylor Genetics"[submitter] AND "HUWE1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582443	NM_031407.7(HUWE1):c.10111G>A (p.Ala3371Thr)	HUWE1 (A3371T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 374333	NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His)	HUWE1 (R1080H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GLikely pathogenic
Select item 2441967	NM_031407.7(HUWE1):c.2803A>G (p.Ser935Gly)	HUWE1 (S935G)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2582628	NM_031407.7(HUWE1):c.1940G>A (p.Arg647Lys)	HUWE1 (R647K)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2442119	NM_031407.7(HUWE1):c.286G>A (p.Val96Met)	HUWE1 (V96M)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2582563	NM_031407.7(HUWE1):c.212C>T (p.Thr71Ile)	HUWE1 (T71I)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 561031	NM_031407.7(HUWE1):c.-24-2A>G	HUWE1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance

ClinVar