List of variants in gene LZTR1 reported as uncertain significance for Noonan syndrome 2; Noonan syndrome 10

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.410C>A (p.Thr137Asn)	rs146627447	0.00009
NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys)	rs373488966	0.00007
NM_006767.4(LZTR1):c.1183G>A (p.Val395Ile)	rs373591504	0.00004
NM_006767.4(LZTR1):c.1615+5G>A	rs758783465	0.00004
NM_006767.4(LZTR1):c.1556G>A (p.Arg519Gln)	rs149502567	0.00003
NM_006767.4(LZTR1):c.1720G>A (p.Val574Met)	rs772702683	0.00001
NM_006767.4(LZTR1):c.361C>T (p.His121Tyr)	rs1569154492	0.00001
NM_006767.4(LZTR1):c.1214G>C (p.Gly405Ala)	rs748190695
NM_006767.4(LZTR1):c.2245T>C (p.Tyr749His)	rs1601723615
NM_006767.4(LZTR1):c.370G>A (p.Val124Ile)	rs759568976
NM_006767.4(LZTR1):c.443A>G (p.Asn148Ser)	rs2518613266
NM_006767.4(LZTR1):c.895_898del (p.Phe299fs)	rs1924613524

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.