"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375722	NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val)	HUWE1 (L4157V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type +2 more	GLikely pathogenic
Select item 981346	NM_031407.7(HUWE1):c.10610C>A (p.Pro3537His)	HUWE1 (P3537H)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 981347	NM_031407.7(HUWE1):c.7945A>G (p.Thr2649Ala)	HUWE1 (T2649A)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 981345	NM_031407.7(HUWE1):c.6751G>A (p.Glu2251Lys)	HUWE1 (E2251K)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 981350	NM_031407.7(HUWE1):c.6200C>T (p.Pro2067Leu)	HUWE1 (P2067L)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 981446	NM_031407.7(HUWE1):c.4094G>A (p.Arg1365Gln)	HUWE1 (R1365Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type +1 more	GUncertain significance
Select item 981349	NM_031407.7(HUWE1):c.3953A>G (p.Asn1318Ser)	HUWE1, LOC126863263 (N1318S)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 981353	NM_031407.7(HUWE1):c.3845G>A (p.Arg1282Gln)	HUWE1, LOC126863263 (R1282Q)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 981352	NM_031407.7(HUWE1):c.2615G>A (p.Arg872Gln)	HUWE1 (R872Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 981348	NM_031407.7(HUWE1):c.1125G>T (p.Met375Ile)	HUWE1 (M375I)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 981351	NM_031407.7(HUWE1):c.489ACA[1] (p.Gln164del)	HUWE1 (Q164del)	Microsatellite (inframe_deletion)	Intellectual disability	GLikely pathogenic