"Ambry Genetics"[submitter] AND "LOC126863263"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 211165	NM_031407.7(HUWE1):c.3966G>A (p.Leu1322=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 588586	NM_031407.7(HUWE1):c.3912A>G (p.Thr1304=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 2260099	NM_031407.7(HUWE1):c.3910A>G (p.Thr1304Ala)	HUWE1, LOC126863263 (T1304A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3285093	NM_031407.7(HUWE1):c.3895C>G (p.Arg1299Gly)	HUWE1, LOC126863263 (R1299G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 807726	NM_031407.7(HUWE1):c.3863G>A (p.Arg1288Gln)	HUWE1, LOC126863263 (R1288Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1734219	NM_031407.7(HUWE1):c.3713C>T (p.Ala1238Val)	HUWE1, LOC126863263 (A1238V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 196796	NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1733454	NM_031407.7(HUWE1):c.3636C>T (p.Pro1212=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign