List of variants in gene GNAO1 reported as likely 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: 35

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HGVS	dbSNP	gnomAD frequency
NM_020988.3(GNAO1):c.1021_1023del (p.Asp341del)
NM_020988.3(GNAO1):c.1023CAT[2] (p.Ile344del)	rs2143705016
NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg)	rs886041715
NM_020988.3(GNAO1):c.119-2_119-1del
NM_020988.3(GNAO1):c.119G>A (p.Gly40Glu)	rs886041766
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val)	rs886041766
NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg)	rs869312939
NM_020988.3(GNAO1):c.136A>G (p.Lys46Glu)	rs2143272162
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn)	rs1555499800
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile)	rs1555499800
NM_020988.3(GNAO1):c.155A>G (p.Gln52Arg)	rs2143272260
NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn)	rs1596867702
NM_020988.3(GNAO1):c.464+2T>C	rs2143647375
NM_020988.3(GNAO1):c.470T>C (p.Leu157Pro)	rs2143660403
NM_020988.3(GNAO1):c.509C>G (p.Pro170Arg)
NM_020988.3(GNAO1):c.527_528delinsAA (p.Leu176Gln)	rs2037724743
NM_020988.3(GNAO1):c.530G>A (p.Arg177Gln)
NM_020988.3(GNAO1):c.57T>G (p.Ile19Met)
NM_020988.3(GNAO1):c.58G>A (p.Glu20Lys)	rs2036182701
NM_020988.3(GNAO1):c.593+1G>A
NM_020988.3(GNAO1):c.614A>C (p.Gln205Pro)	rs2143664881
NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu)	rs797044878
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
NM_020988.3(GNAO1):c.687C>G (p.Ser229Arg)	rs546569747
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.731T>A (p.Met244Lys)	rs2037919953
NM_020988.3(GNAO1):c.736G>C (p.Glu246Gln)	rs797044951
NM_020988.3(GNAO1):c.737A>T (p.Glu246Val)	rs1114167431
NM_020988.3(GNAO1):c.751T>A (p.Phe251Ile)
NM_020988.3(GNAO1):c.810C>A (p.Asn270Lys)	rs2143699686
NM_020988.3(GNAO1):c.813G>C (p.Lys271Asn)	rs758779535
NM_020988.3(GNAO1):c.817G>T (p.Asp273Tyr)	rs2143699701
NM_020988.3(GNAO1):c.818A>G (p.Asp273Gly)
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly)	rs2037954227

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