"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "NOX1"[g - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 727642	NM_007052.5(NOX1):c.1278C>G (p.His426Gln)	NOX1 (H389Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 791381	NM_007052.5(NOX1):c.1133G>A (p.Arg378Lys)	NOX1 (R378K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 748999	NM_007052.5(NOX1):c.1066C>T (p.Arg356Ter)	NOX1 (R356* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 714967	NM_007052.5(NOX1):c.904A>G (p.Met302Val)	NOX1 (M265V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 720642	NM_007052.5(NOX1):c.765C>T (p.Ser255=)	NOX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 599357	NM_007052.5(NOX1):c.721C>T (p.Arg241Cys)	NOX1 (R241C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3246518	NC_000023.10:g.(?_99551275)_(100515610_?)dup	ARL13A, CENPI +11 more	Duplication	not provided	GUncertain significance
Select item 2425021	NC_000023.10:g.(?_99551275)_(101097764_?)del	RPL36A, RPL36A-HNRNPH2 +25 more	Deletion	not provided	GPathogenic
Select item 2423943	NC_000023.10:g.(?_99551275)_(100099087_?)del	CSTF2, NOX1 +5 more	Deletion	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2422282	NC_000023.10:g.(?_99551275)_(101097764_?)dup	ARL13A, ARMCX1 +25 more	Duplication	X-linked agammaglobulinemia with growth hormone deficiency +1 more	GUncertain significance
Select item 1375651	NC_000023.10:g.(?_99917153)_(100662891_?)dup	SYTL4, TAF7L +14 more	Duplication	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance