"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NRXN1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 336544	NM_001330078.2(NRXN1):c.3532C>A (p.Leu1178Ile)	NRXN1 (L1218I +10 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2 +1 more	GUncertain significance
Select item 206245	NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr)	NRXN1 (H885Y +9 more)	Single nucleotide variant (missense variant)	Chromosome 2p16.3 deletion syndrome +4 more	GConflicting classifications of pathogenicity
Select item 206242	NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn)	NRXN1 (S860N +9 more)	Single nucleotide variant (missense variant)	Chromosome 2p16.3 deletion syndrome +4 more	GConflicting classifications of pathogenicity
Select item 539874	NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys)	NRXN1 (R853C +9 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 129817	NM_001330078.2(NRXN1):c.772+1050C>A	NRXN1 (Q264K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 539879	NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup)	NRXN1	Duplication (inframe_insertion)	not provided +3 more	GUncertain significance
Select item 452464	NM_001330078.2(NRXN1):c.656_664del (p.Ala219_Glu221del)	NRXN1	Deletion (inframe_deletion)	NRXN1-related disorder +2 more	GUncertain significance
Select item 167390	NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)	NRXN1 (N190S)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 547931	NM_001330078.2(NRXN1):c.348C>A (p.Ser116Arg)	NRXN1 (S116R)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 940152	NM_001330078.2(NRXN1):c.143C>G (p.Ala48Gly)	NRXN1 (A48G)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2 +1 more	GUncertain significance