Related gene-specific medical variations for Gene (Select 9369) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039991	NM_001330195.2(NRXN3):c.1541A>C (p.Asp514Ala)	LOC105370589, NRXN3 (D141A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	NRXN3-related condition	GLikely benign
Select item 3038930	NM_001330195.2(NRXN3):c.792A>T (p.Ser264=)	LOC132090271, NRXN3	Single nucleotide variant (synonymous variant +2 more)	NRXN3-related condition	GBenign
Select item 2689614	NM_001330195.2(NRXN3):c.3158G>T (p.Cys1053Phe)	NRXN3 (C1053F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689613	NM_001330195.2(NRXN3):c.2109T>G (p.His703Gln)	NRXN3 (H703Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2644427	NM_001330195.2(NRXN3):c.1383C>T (p.Pro461=)	LOC105370589, NRXN3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2507672	NM_001330195.2(NRXN3):c.1303G>A (p.Glu435Lys)	LOC105370589, NRXN3 (E435K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2429827	NM_001330195.2(NRXN3):c.4097dup (p.Ser1367fs)	NRXN3 (S1337fs +2 more)	Duplication (frameshift variant +2 more)	Autism spectrum disorder	GLikely benign
Select item 2429826	NM_001330195.2(NRXN3):c.1394C>T (p.Thr465Ile)	LOC105370589, NRXN3 (T465I +2 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 2369711	NM_001330195.2(NRXN3):c.1282A>T (p.Thr428Ser)	LOC105370589, NRXN3 (T432S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1098590	NM_001330195.2(NRXN3):c.1247G>A (p.Arg416His)	LOC105370589, NRXN3 (R416H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 978111	NM_001330195.2(NRXN3):c.2033C>T (p.Thr678Ile)	NRXN3 (T305I +2 more)	Single nucleotide variant (missense variant +1 more)	Autism +1 more	GUncertain significance
Select item 375395	NM_001330195.2(NRXN3):c.1315A>G (p.Lys439Glu)	LOC105370589, NRXN3 (K66E +2 more)	Single nucleotide variant (missense variant +1 more)	Relative macrocephaly +1 more	GPathogenic
Select item 154995	GRCh38/hg38 14q31.1(chr14:78921838-79108374)x1	NRXN3	Copy number loss	See cases	GUncertain significance
Select item 154145	GRCh38/hg38 14q31.1(chr14:78968226-79147847)x1	NRXN3	Copy number loss	See cases	GUncertain significance