"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "USP27X" - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2097077	NM_001145073.3(USP27X):c.221_225delinsAGA (p.Thr74fs)	USP27X (T74fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 799709	NM_001145073.3(USP27X):c.288C>T (p.Leu96=)	USP27X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727744	NM_001145073.3(USP27X):c.471A>G (p.Leu157=)	USP27X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783081	NM_001145073.3(USP27X):c.705C>G (p.Gly235=)	USP27X	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 758884	NM_001145073.3(USP27X):c.921T>C (p.Cys307=)	USP27X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789546	NM_001145073.3(USP27X):c.1039A>G (p.Met347Val)	USP27X (M347V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 799886	NM_001145073.3(USP27X):c.1227G>T (p.Leu409=)	USP27X	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	AKAP4, ARAF +91 more	Deletion	not provided	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	CCDC22, CCNB3 +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	AKAP4, BMP15 +60 more	Duplication	X-linked severe congenital neutropenia +4 more	GUncertain significance
Select item 1411770	NC_000023.10:g.(?_48932462)_(49840657_?)dup	GAGE12E, GAGE13 +31 more	Duplication	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1007859	NC_000023.10:g.(?_48382160)_(49856876_?)dup	CACNA1F, CCDC120 +52 more	Duplication	SLC35A2-congenital disorder of glycosylation +1 more	GUncertain significance