List of variants in gene GNAS reported as pathogenic for not provided

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: 107

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)	rs11554273	0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His)	rs121913495	0.00001
NC_000020.10:g.(?_57466782)_(57466940_?)del
NC_000020.10:g.(?_57466782)_(57485884_?)del
NC_000020.10:g.(?_57478707)_(57478866_?)del
NC_000020.10:g.(?_57484385)_(57485156_?)del
NC_000020.10:g.(?_57485079)_(57487993_?)del
NM_000516.7(GNAS):c.-1_2del (p.Met1del)
NM_000516.7(GNAS):c.-4_2del (p.Met1del)	rs1085307719
NM_000516.7(GNAS):c.1006C>T (p.Arg336Trp)	rs2146299968
NM_000516.7(GNAS):c.100A>T (p.Lys34Ter)
NM_000516.7(GNAS):c.1012_1013insT (p.Lys338fs)	rs2146300173
NM_000516.7(GNAS):c.1024C>T (p.Arg342Ter)	rs2146300427
NM_000516.7(GNAS):c.1038+1G>C
NM_000516.7(GNAS):c.103C>T (p.Gln35Ter)	rs2089386059
NM_000516.7(GNAS):c.1068dup (p.His357fs)	rs2146305350
NM_000516.7(GNAS):c.1093del (p.Cys365fs)	rs1057518224
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)	rs137854537
NM_000516.7(GNAS):c.10dup (p.Leu4fs)
NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs)	rs2091380655
NM_000516.7(GNAS):c.1110_1111del (p.Asn371fs)
NM_000516.7(GNAS):c.1128del (p.Phe376fs)	rs2146306279
NM_000516.7(GNAS):c.1147del (p.Ile383fs)
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys)	rs397514456
NM_000516.7(GNAS):c.124C>T (p.Arg42Cys)
NM_000516.7(GNAS):c.127CTG[5] (p.Leu46dup)	rs774711025
NM_000516.7(GNAS):c.139+1G>A	rs2089393181
NM_000516.7(GNAS):c.139+1G>C	rs2089393181
NM_000516.7(GNAS):c.139+2T>C	rs2145917348
NM_000516.7(GNAS):c.150_154del (p.Glu50_Ser51insTer)
NM_000516.7(GNAS):c.157A>G (p.Lys53Glu)	rs2146005743
NM_000516.7(GNAS):c.1A>G (p.Met1Val)	rs137854530
NM_000516.7(GNAS):c.1A>T (p.Met1Leu)	rs137854530
NM_000516.7(GNAS):c.1_2delinsGC (p.Met1Ala)
NM_000516.7(GNAS):c.21dup (p.Lys8Ter)	rs2145914732
NM_000516.7(GNAS):c.283del (p.Ile95fs)	rs2146178007
NM_000516.7(GNAS):c.2T>C (p.Met1Thr)	rs1555883949
NM_000516.7(GNAS):c.304G>A (p.Ala102Thr)	rs2146178601
NM_000516.7(GNAS):c.308T>C (p.Ile103Thr)
NM_000516.7(GNAS):c.310G>T (p.Glu104Ter)	rs2146178875
NM_000516.7(GNAS):c.312+5G>A	rs2146179050
NM_000516.7(GNAS):c.312delA (p.Thr105fs)	rs2146178942
NM_000516.7(GNAS):c.317T>C (p.Ile106Thr)
NM_000516.7(GNAS):c.343C>T (p.Pro115Ser)	rs2146182909
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)	rs137854539
NM_000516.7(GNAS):c.347_348dup (p.Val117fs)
NM_000516.7(GNAS):c.348del (p.Val117fs)	rs2090848106
NM_000516.7(GNAS):c.348dup (p.Val117fs)	rs2090848106
NM_000516.7(GNAS):c.349G>A (p.Val117Met)	rs1555889031
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	rs797045046
NM_000516.7(GNAS):c.389A>G (p.Tyr130Cys)	rs2146184314
NM_000516.7(GNAS):c.408del (p.Asn136fs)
NM_000516.7(GNAS):c.432+1G>A	rs1555889131
NM_000516.7(GNAS):c.432+2T>C
NM_000516.7(GNAS):c.432+2T>G	rs2146185827
NM_000516.7(GNAS):c.432+2_432+15del	rs2146185615
NM_000516.7(GNAS):c.441del (p.Phe146_Tyr147insTer)
NM_000516.7(GNAS):c.445_446del (p.His149fs)
NM_000516.7(GNAS):c.461G>A (p.Trp154Ter)	rs2146209197
NM_000516.7(GNAS):c.474_475dup (p.Val159fs)
NM_000516.7(GNAS):c.478C>T (p.Arg160Cys)
NM_000516.7(GNAS):c.489C>G (p.Tyr163Ter)	rs372290095
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)	rs137854532
NM_000516.7(GNAS):c.494G>A (p.Arg165His)	rs2090976265
NM_000516.7(GNAS):c.507C>G (p.Tyr169Ter)
NM_000516.7(GNAS):c.508C>T (p.Gln170Ter)
NM_000516.7(GNAS):c.518_521del (p.Asp173fs)	rs2146211217
NM_000516.7(GNAS):c.526C>T (p.Gln176Ter)	rs1569020396
NM_000516.7(GNAS):c.531-105_599del
NM_000516.7(GNAS):c.531-2A>T	rs2091270014
NM_000516.7(GNAS):c.55C>T (p.Gln19Ter)	rs2089380075
NM_000516.7(GNAS):c.562del (p.Ala188fs)	rs2091272733
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829
NM_000516.7(GNAS):c.569_570del (p.Tyr190fs)
NM_000516.7(GNAS):c.570T>G (p.Tyr190Ter)
NM_000516.7(GNAS):c.637C>T (p.Gln213Ter)
NM_000516.7(GNAS):c.661dup (p.Met221fs)
NM_000516.7(GNAS):c.679C>T (p.Gln227Ter)	rs797045203
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys)	rs2146278555
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)	rs1601162438
NM_000516.7(GNAS):c.692G>A (p.Arg231His)	rs137854538
NM_000516.7(GNAS):c.702G>A (p.Trp234Ter)
NM_000516.7(GNAS):c.719-1G>A
NM_000516.7(GNAS):c.75del (p.Ile26fs)
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)	rs137854535
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln)	rs1555891584
NM_000516.7(GNAS):c.784C>T (p.Gln262Ter)	rs886039677
NM_000516.7(GNAS):c.794G>A (p.Arg265His)	rs2146285582
NM_000516.7(GNAS):c.794_795dup (p.Leu266fs)
NM_000516.7(GNAS):c.799C>T (p.Gln267Ter)
NM_000516.7(GNAS):c.801_802dup (p.Glu268fs)	rs1601164303
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	rs1057518907
NM_000516.7(GNAS):c.860_861del (p.Val287fs)
NM_000516.7(GNAS):c.865del (p.Leu289fs)
NM_000516.7(GNAS):c.877_878dup (p.Gln294fs)
NM_000516.7(GNAS):c.878A>C (p.Lys293Thr)
NM_000516.7(GNAS):c.878del (p.Lys293fs)
NM_000516.7(GNAS):c.898A>T (p.Lys300Ter)	rs1555891743
NM_000516.7(GNAS):c.8G>C (p.Cys3Ser)	rs1064794045
NM_000516.7(GNAS):c.917C>A (p.Ser306Ter)
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)	rs2089384365
NM_000516.7(GNAS):c.928del (p.Asp310fs)	rs2146292888
NM_000516.7(GNAS):c.970+1G>A
NM_000516.7(GNAS):c.970+2T>C	rs1601166850
NM_000516.7(GNAS):c.971-2A>G	rs886039383
NM_000516.7(GNAS):c.97del (p.Asp33fs)
NM_080425.4(GNAS):c.424G>T (p.Gly142Ter)

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