"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "USP5"[g - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 783654	NM_001098536.2(USP5):c.54C>T (p.Val18=)	USP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732659	NM_001098536.2(USP5):c.261C>T (p.Gly87=)	USP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781061	NM_001098536.2(USP5):c.1138C>T (p.Leu380=)	USP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729178	NM_001098536.2(USP5):c.1465C>T (p.Leu489=)	USP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781062	NM_001098536.2(USP5):c.1827C>T (p.Pro609=)	USP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	PEX5, PHB2 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1374034	NC_000012.11:g.(?_6950452)_(6979547_?)dup	CDCA3, GNB3 +2 more	Duplication	not provided	GUncertain significance
Select item 1056361	NC_000012.11:g.(?_6438478)_(7362819_?)dup	ACRBP, ATN1 +43 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1004385	NC_000012.11:g.(?_6945914)_(9027627_?)dup	C1RL, C1S +44 more	Duplication	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 830671	NC_000012.11:g.(?_6438458)_(7362839_?)dup	ACRBP, ATN1 +43 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 830465	NC_000012.11:g.(?_6945914)_(8248706_?)dup	ACSM4, APOBEC1 +34 more	Duplication	Temtamy syndrome	GUncertain significance