C2678046[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1320047	NM_031407.7(HUWE1):c.12404A>C (p.His4135Pro)	HUWE1 (H4135P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GLikely pathogenic
Select item 2572565	NM_031407.7(HUWE1):c.12335G>A (p.Arg4112His)	HUWE1 (R4112H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 1526107	NM_031407.7(HUWE1):c.12293A>G (p.His4098Arg)	HUWE1 (H4098R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
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 2091487	NM_031407.7(HUWE1):c.8495C>T (p.Thr2832Ile)	HUWE1 (T2832I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1321272	NM_031407.7(HUWE1):c.5884+3A>G	HUWE1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 1705719	NM_031407.7(HUWE1):c.5167C>A (p.Pro1723Thr)	HUWE1 (P1723T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar