List of variants in gene RPS6KA3 reported as likely pathogenic for developmental disorder of mental health

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: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004586.3(RPS6KA3):c.1009A>G (p.Arg337Gly)	rs2067699201
NM_004586.3(RPS6KA3):c.1022del (p.His341fs)	rs2148664069
NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter)	rs1160828151
NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val)	rs2148653302
NM_004586.3(RPS6KA3):c.1507G>C (p.Asp503His)	rs2067475470
NM_004586.3(RPS6KA3):c.1602+2del	rs2148649846
NM_004586.3(RPS6KA3):c.1603-5A>G	rs1569194162
NM_004586.3(RPS6KA3):c.1762G>C (p.Glu588Gln)	rs1555927532
NM_004586.3(RPS6KA3):c.1823T>G (p.Leu608Arg)	rs2067342745
NM_004586.3(RPS6KA3):c.1960-6_1971del
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs)	rs1555924704
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter)	rs2068650679
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)	rs1555924331
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln)	rs28935171
NM_004586.3(RPS6KA3):c.307AAG[1] (p.Lys104del)	rs2148721833
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp)	rs122454127
NM_004586.3(RPS6KA3):c.406+1G>T
NM_004586.3(RPS6KA3):c.443A>T (p.Asp148Val)	rs2148701829
NM_004586.3(RPS6KA3):c.460G>C (p.Asp154His)	rs2148701796
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile)	rs1325953089
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu)	rs1555939456
NM_004586.3(RPS6KA3):c.646A>T (p.Lys216Ter)	rs1555939456
NM_004586.3(RPS6KA3):c.649G>A (p.Glu217Lys)
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn)	rs1603425338
NM_004586.3(RPS6KA3):c.774+1G>C	rs1555939331
NM_004586.3(RPS6KA3):c.840_845+3del
NM_004586.3(RPS6KA3):c.958G>T (p.Glu320Ter)	rs2067702700

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.