List of variants in gene SZT2 reported as pathogenic for complex neurodevelopmental disorder

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp)	rs373062274	0.00007
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp)	rs765848129	0.00002
NM_001365999.1(SZT2):c.2929+1G>A	rs1295389410	0.00001
NM_001365999.1(SZT2):c.9874C>T (p.Arg3292Ter)	rs1302034044	0.00001
NM_001365999.1(SZT2):c.1496G>T (p.Ser499Ile)	rs886041034
NM_001365999.1(SZT2):c.2092C>T (p.Gln698Ter)	rs397515490
NM_001365999.1(SZT2):c.3668dup (p.Ala1224fs)	rs1653321651
NM_001365999.1(SZT2):c.3871_3887del (p.Asn1291fs)	rs1653397925
NM_001365999.1(SZT2):c.4396C>T (p.Arg1466Ter)	rs766090540
NM_001365999.1(SZT2):c.5653del (p.Gly1886fs)	rs1654084368
NM_001365999.1(SZT2):c.73C>T (p.Arg25Ter)	rs397515489
NM_001365999.1(SZT2):c.7613G>A (p.Cys2538Tyr)	rs1553153691
NM_001365999.1(SZT2):c.7735C>T (p.Gln2579Ter)	rs2153935815
NM_001365999.1(SZT2):c.7996T>G (p.Trp2666Gly)	rs1655170724
NM_001365999.1(SZT2):c.8333C>G (p.Ser2778Cys)	rs1276523236
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs)	rs745420974
NM_001365999.1(SZT2):c.9040C>T (p.Arg3014Ter)

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.