List of variants in gene GNAO1 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: 42

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HGVS	dbSNP	gnomAD frequency
NC_000016.10:g.(?_56328611)_(56343970_?)dup
NC_000016.9:g.(?_56226148)_(56226548_?)del
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg)	rs886041715
NM_020988.3(GNAO1):c.118G>T (p.Gly40Trp)	rs886041715
NM_020988.3(GNAO1):c.119G>C (p.Gly40Ala)
NM_020988.3(GNAO1):c.124G>A (p.Gly42Arg)	rs2143272046
NM_020988.3(GNAO1):c.133G>T (p.Gly45Ter)
NM_020988.3(GNAO1):c.140G>A (p.Ser47Asn)	rs1596787821
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile)	rs1555499800
NM_020988.3(GNAO1):c.155A>C (p.Gln52Pro)
NM_020988.3(GNAO1):c.17G>T (p.Ser6Ile)
NM_020988.3(GNAO1):c.398_402dup (p.Ser135fs)
NM_020988.3(GNAO1):c.521A>G (p.Asp174Gly)	rs587777055
NM_020988.3(GNAO1):c.529C>T (p.Arg177Ter)	rs2037724762
NM_020988.3(GNAO1):c.572_592del (p.Thr191_Phe197del)	rs587777056
NM_020988.3(GNAO1):c.596T>C (p.Leu199Pro)	rs2143664797
NM_020988.3(GNAO1):c.602A>T (p.Asp201Val)	rs2143664808
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_020988.3(GNAO1):c.607G>C (p.Gly203Arg)	rs587777057
NM_020988.3(GNAO1):c.610G>C (p.Gly204Arg)	rs2143664861
NM_020988.3(GNAO1):c.617G>T (p.Arg206Leu)	rs1297225571
NM_020988.3(GNAO1):c.620C>T (p.Ser207Phe)	rs1057518440
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)	rs886039494
NM_020988.3(GNAO1):c.626G>A (p.Arg209His)	rs797044878
NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu)	rs797044878
NM_020988.3(GNAO1):c.631A>C (p.Lys211Gln)
NM_020988.3(GNAO1):c.649G>A (p.Glu217Lys)	rs1555507477
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys)	rs1057518678
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys)	rs1064794533
NM_020988.3(GNAO1):c.723+1G>A	rs1596872804
NM_020988.3(GNAO1):c.724-8G>A	rs1085307876
NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys)	rs797044951
NM_020988.3(GNAO1):c.748C>T (p.Leu250Phe)	rs2143699618
NM_020988.3(GNAO1):c.759dup (p.Ile254fs)	rs2037920369
NM_020988.3(GNAO1):c.807_808delinsAC (p.Asn270His)
NM_020988.3(GNAO1):c.813G>T (p.Lys271Asn)	rs758779535
NM_020988.3(GNAO1):c.818A>T (p.Asp273Val)	rs2037920694
NM_020988.3(GNAO1):c.830AGA[1] (p.Lys278del)	rs2037920791
NM_020988.3(GNAO1):c.836T>A (p.Ile279Asn)	rs587777054
NM_020988.3(GNAO1):c.851T>C (p.Leu284Ser)	rs1555508316
NM_020988.3(GNAO1):c.871T>A (p.Tyr291Asn)	rs1064795384

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