"OMIM"[submitter] AND "NRXN1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30095	NM_001330078.2(NRXN1):c.4291_4294dup (p.Gly1432fs)	NRXN1 (G1362fs +20 more)	Duplication (frameshift variant)	Schizophrenia 17	Grisk factor
Select item 9041	NM_001330078.2(NRXN1):c.2936C>G (p.Ser979Ter)	NRXN1 (S979* +9 more)	Single nucleotide variant (nonsense)	Pitt-Hopkins-like syndrome 2	GPathogenic
Select item 30097	NC_000002.11:g.(?_51008023)_(51294599_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GPathogenic
Select item 30096	NC_000002.11:g.(?_50214717_50293739_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GPathogenic
Select item 9040	NC_000002.10:g.(50704258_51001003_51113677_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GPathogenic

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