Unique variants in gene GNAS

Information The variants shown are described using the transcript reference sequence.

353 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 1 _1_13_ c.-242436_*2309673del - r.0 p.0 - - - g. 57224346_59795557del - - - GNAS_000233 - PubMed: Garin et al. 2015 - - Germline yes - - - - Guiomar Perez de Nanclares
-?/. 1 - c.-51564C>T likely benign r.(?) p.(=) - - - g.57415218C>T - GNAS(NM_016592.3):c.57C>T (p.D19=) - chr20_002400 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-51553C>T VUS r.(?) p.(=) - - - g.57415229C>T - GNAS(NM_016592.2):c.68C>T (p.(Pro23Leu)) - chr20_002401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-51327C>T benign r.(?) p.(=) - - - g.57415455C>T - GNAS(NM_016592.2):c.294C>T (p.=) - chr20_002402 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-51234_-51211del likely benign r.(?) p.(=) - - - g.57415548_57415571del - GNAS(NM_016592.2):c.382_405del (p.(Pro129_Glu136del)) - chr20_002403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-51223C>T likely benign r.(?) p.(=) - - - g.57415559C>T - GNAS(NM_016592.2):c.398C>T (p.(Pro133Leu)) - GNAS-AS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-51209G>A likely benign r.(?) p.(=) - - - g.57415573G>A - GNAS(NM_016592.2):c.412G>A (p.(Glu138Lys)) - chr20_002404 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-51082C>T VUS r.(?) p.(=) - - - g.57415700C>T - GNAS(NM_016592.2):c.539C>T (p.(Pro180Leu)) - GNAS-AS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-51060C>A likely benign r.(?) p.(=) - - - g.57415722C>A - GNAS(NM_016592.2):c.561C>A (p.(Ser187Arg)) - chr20_002405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-51029G>A likely benign r.(?) p.(=) - - - g.57415753G>A - GNAS(NM_016592.2):c.592G>A (p.(Asp198Asn)) - chr20_002406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-50984_-50982del VUS r.(?) p.(=) - - - g.57415798_57415800del - GNAS(NM_016592.2):c.632_634del (p.(Glu213del)) - GNAS-AS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-50982G>A likely benign r.(?) p.(=) - - - g.57415800G>A - GNAS(NM_016592.3):c.639G>A (p.E213=) - chr20_002407 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-50970T>A benign r.(?) p.(=) - - - g.57415812T>A - GNAS(NM_016592.2):c.651T>A (p.=) - chr20_002408 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-50906C>A likely benign r.(?) p.(=) - - - g.57415876C>A - GNAS(NM_016592.2):c.715C>A (p.(Pro239Thr)) - chr20_002409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 2 _1 c.-50129_-50089del - r.(=) p.(=) - - - g.57416653_57416693del g.58841598_58841638del - - GNAS_000174 variant in first intron NESP55, variant in intron 1 NESP55 - - - Germline yes - - - - Deborah JG Mackay
?/. 1 _1 c.-48526_-48492del - r.(=) p.(=) - - - g.57418256_57418290del g.58843201_58843235del - - GNAS_000176 deletion intron 1 NESP55; no coding variants of GNAS exons 2-13 - - - Germline yes - - - hypomethylation of GNAS-AS, XLAS, GNASA/B; hypermethylation NESP55 DMRs Deborah JG Mackay
-?/. 1 - c.-38451G>A likely benign r.(?) p.(=) - - - g.57428331G>A - GNAS(NM_001077490.1):c.-177G>A (p.(=), p.(Arg4His)) - chr20_002410 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-38389C>G VUS r.(?) p.(=) - - - g.57428393C>G - GNAS(NM_001077490.1):c.-115C>G (p.(=), p.(Gln25Glu)) - GNAS_000348 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-38383G>A likely benign r.(?) p.(=) - - - g.57428399G>A - GNAS(NM_001077490.1):c.-109G>A (p.(=), p.(Glu27Lys)) - GNAS_000349 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-38308G>A VUS r.(?) p.(=) - - - g.57428474G>A - GNAS(NM_001077490.1):c.-34G>A (p.(=), p.(Glu52Lys)) - GNAS_000350 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-38304C>G likely benign r.(?) p.(=) - - - g.57428478C>G - GNAS(NM_080425.3):c.158C>G (p.P53R) - chr20_002411 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-38002T>C VUS r.(?) p.(=) - - - g.57428780T>C - GNAS(NM_080425.2):c.460T>C (p.Y154H) - chr20_002412 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 4 - c.-37978A>G likely benign r.(?) p.(=) - - - g.57428804A>G - GNAS(NM_080425.3):c.484A>G (p.M162V) - GNAS_000351 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Leiden
-?/., -/. 2 - c.-37962A>G likely benign, benign r.(?) p.(=) - - - g.57428820A>G - GNAS(NM_001077490.1):c.313A>G (p.T105A) - GNAS_000352 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - c.-37937T>C likely benign r.(?) p.(=) - - - g.57428845T>C - GNAS(NM_001077490.1):c.338T>C (p.(Val113Ala), p.(=)) - GNAS_000353 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-37924C>T VUS r.(?) p.(=) - - - g.57428858C>T - GNAS(NM_016592,NM_080425,NM_001077490):c.538C>T (p.(Gln180*)) - chr20_002413 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-37884G>A VUS r.(?) p.(=) - - - g.57428898G>A - GNAS(NM_001077490.2):c.391G>A (p.G131R) - chr20_002414 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.-37835G>A benign, likely benign r.(?) p.(=) - - - g.57428947G>A - GNAS(NM_001077490.2):c.440G>A (p.R147K) - GNAS_000354 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden
-?/. 2 - c.-37834G>C likely benign r.(?) p.(=) - - - g.57428948G>C - GNAS(NM_001077490.1):c.441G>C (p.(Arg147Ser), p.(Ala210Pro)) - GNAS_000355 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.-37784T>G VUS r.(?) p.(=) - - - g.57428998T>G - GNAS(NM_001077490.2):c.491T>G (p.L164W) - GNAS_000356 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-37742G>A VUS r.(?) p.(=) - - - g.57429040G>A - GNAS(NM_001077490.2):c.533G>A (p.R178Q) - GNAS_000357 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37690G>A likely benign r.(?) p.(=) - - - g.57429092G>A - GNAS(NM_001077490.1):c.585G>A (p.(=), p.(Val258Ile)) - GNAS_000358 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37688C>T likely benign r.(?) p.(=) - - - g.57429094C>T - GNAS(NM_001077490.1):c.587C>T (p.(Ser196Leu), p.(=)) - chr20_002415 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-37641C>T VUS r.(?) p.(=) - - - g.57429141C>T - GNAS(NM_001077490.2):c.634C>T (p.P212S) - chr20_002416 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37574G>A likely benign r.(?) p.(=) - - - g.57429208G>A - GNAS(NM_001077490.2):c.701G>A (p.R234Q) - chr20_002417 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37565C>A likely benign r.(?) p.(=) - - - g.57429217C>A - GNAS(NM_001077490.2):c.710C>A (p.A237D) - GNAS_000359 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37523C>G likely benign r.(?) p.(=) - - - g.57429259C>G - GNAS(NM_001077490.1):c.752C>G (p.(Ala251Gly), p.(Ser313Arg)) - chr20_002418 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37517C>T likely benign r.(?) p.(=) - - - g.57429265C>T - GNAS(NM_001077490.1):c.758C>T (p.(Pro253Leu), p.(=)) - GNAS_000360 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37472C>T likely benign r.(?) p.(=) - - - g.57429310C>T - GNAS(NM_001077490.2):c.803C>T (p.S268L) - GNAS_000361 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37461G>A likely benign r.(?) p.(=) - - - g.57429321G>A - GNAS(NM_001077490.1):c.814G>A (p.(Ala272Thr), p.(Gly334Asp)) - chr20_002419 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-37437C>A VUS r.(?) p.(=) - - - g.57429345C>A - GNAS(NM_001077490.2):c.838C>A (p.P280T) - GNAS_000362 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-37358G>A VUS r.(?) p.(=) - - - g.57429424G>A - GNAS(NM_001077490.1):c.917G>A (p.(Arg306Gln), p.(=)) - GNAS_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 3 - c.-37335C>T benign, likely benign r.(?) p.(=) - - - g.57429447C>T - GNAS(NM_001077490.2):c.940C>T (p.R314W) - chr20_002420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 1 - c.-37333G>C likely benign r.(?) p.(=) - - - g.57429449G>C - GNAS(NM_001077490.1):c.942G>C (p.(=), p.(Gly377Arg)) - chr20_002421 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37295T>A likely benign r.(?) p.(=) - - - g.57429487T>A - GNAS(NM_001077490.1):c.980T>A (p.(Ile327Lys), p.(Asp389Glu)) - GNAS_000364 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37282_-37281insGCAGCCCCT likely benign r.(?) p.(=) - - - g.57429500_57429501insGCAGCCCCT - 1 more item - chr20_002422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.-37274_-37266dup benign r.(?) p.(=) - - - g.57429508_57429516dup - GNAS(NM_001077490.1):c.1001_1009dupTGCAGCCCC (p.L334_P336dup) - GNAS_000366 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 1 - c.-37261G>A likely benign r.(?) p.(=) - - - g.57429521G>A - GNAS(NM_001077490.1):c.1014G>A (p.(=), p.(Asp401Asn)) - chr20_002423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/. 3 - c.-37241C>G likely benign, VUS r.(?) p.(=) - - - g.57429541C>G - GNAS(NM_001077490.1):c.1034C>G (p.P345R) - GNAS_000367 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_VUmc
-/., ?/. 2 - c.-37229_-37203del benign, VUS r.(?) p.(=) - - - g.57429553_57429579del - GNAS(NM_001077490.1):c.1041_1067del (p.(Pro349_Ile357del), p.(Pro411_Asp419del)) - GNAS_000368 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.-37182C>A VUS r.(?) p.(=) - - - g.57429600C>A - GNAS(NM_001077490.1):c.1093C>A (p.(Pro365Thr), p.(Ala427Asp)) - GNAS_000369 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37163A>G likely benign r.(?) p.(=) - - - g.57429619A>G - GNAS(NM_001077490.1):c.1112A>G (p.(Gln371Arg), p.(=)) - chr20_002424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.-37155C>A likely benign r.(?) p.(=) - - - g.57429627C>A - GNAS(NM_001077490.1):c.1120C>A (p.P374T) - chr20_002425 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Leiden
-?/. 1 - c.-37133C>T likely benign r.(?) p.(=) - - - g.57429649C>T - GNAS(NM_001077490.1):c.1142C>T (p.(Pro381Leu), p.(=)) - chr20_002426 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-37132G>A VUS r.(?) p.(=) - - - g.57429650G>A - GNAS(NM_080425.3):c.1330G>A (p.G444R) - GNAS_000370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37127G>A likely benign r.(?) p.(=) - - - g.57429655G>A - GNAS(NM_001077490.1):c.1148G>A (p.(Arg383Gln), p.(=)) - chr20_002427 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37119A>C likely benign r.(?) p.(=) - - - g.57429663A>C - GNAS(NM_001077490.1):c.1156A>C (p.(Thr386Pro), p.(Asp448Ala)) - chr20_002428 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-37096G>A VUS r.(?) p.(=) - - - g.57429686G>A - GNAS(NM_080425.3):c.1366G>A (p.G456R) - GNAS_000371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-37086C>G benign r.(?) p.(=) - - - g.57429696C>G - GNAS(NM_001077490.1):c.1189C>G (p.L397V) - chr20_002429 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37085_-37084insTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG likely benign r.(?) p.(=) - - - g.57429697_57429698insTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG - 1 more item - chr20_002430 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-37068_-37067insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC likely benign r.(?) p.(=) - - - g.57429714_57429715insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC - GNAS(NM_001077490.1):c.1207_1208ins36 (p.I402_Q403ins12) - GNAS_000373 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-37067A>C VUS r.(?) p.(=) - - - g.57429715A>C - GNAS(NM_001077490.1):c.1208A>C (p.(Gln403Pro), p.(=)) - GNAS_000374 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-37064T>C VUS r.(?) p.(=) - - - g.57429718T>C - GNAS(NM_001077490.1):c.1211T>C (p.(Met404Thr), p.(=)) - GNAS_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-37063G>T VUS r.(?) p.(=) - - - g.57429719G>T - GNAS(NM_001077490.1):c.1212G>T (p.(Met404Ile), p.(=), p.(Ala467Ser)) - GNAS_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.-37034C>G likely benign r.(?) p.(=) - - - g.57429748C>G - GNAS(NM_001077490.1):c.1241C>G (p.(Pro414Arg), p.(=)) - GNAS_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.-37017C>T VUS r.(?) p.(=) - - - g.57429765C>T - GNAS(NM_001077490.1):c.1258C>T (p.(Pro420Ser), p.(Thr482Ile)) - GNAS_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., ?/. 2 - c.-37007C>A benign, VUS r.(?) p.(=) - - - g.57429775C>A - GNAS(NM_001077490.2):c.1268C>A (p.P423H) - GNAS_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Leiden
-?/. 1 - c.-37000G>A likely benign r.(?) p.(=) - - - g.57429782G>A - GNAS(NM_001077490.1):c.1275G>A (p.(=), p.(Ala488Thr)) - chr20_002431 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-36944G>A likely benign r.(?) p.(=) - - - g.57429838G>A - GNAS(NM_001077490.2):c.1331G>A (p.G444E) - GNAS_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.-36938C>T benign, likely benign r.(?) p.(=) - - - g.57429844C>T - GNAS(NM_001077490.1):c.1337C>T (p.(Pro446Leu), p.(=)) - chr20_002432 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.-36914A>T VUS r.(?) p.(=) - - - g.57429868A>T - GNAS(NM_001077490.2):c.1361A>T (p.Q454L) - chr20_002433 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-36909C>T VUS r.(?) p.(=) - - - g.57429873C>T - GNAS(NM_080425.3):c.1553C>T (p.P518L) - chr20_002434 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-36891G>A likely benign r.(?) p.(=) - - - g.57429891G>A - GNAS(NM_001077490.2):c.1384G>A (p.A462T) - chr20_002435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-36872C>T likely benign r.(?) p.(=) - - - g.57429910C>T - GNAS(NM_001077490.1):c.1403C>T (p.(Pro468Leu), p.(=)) - chr20_002436 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-36814G>A VUS r.(?) p.(=) - - - g.57429968G>A - GNAS(NM_080425.3):c.1648G>A (p.A550T) - chr20_002437 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-36782C>A VUS r.(?) p.(=) - - - g.57430000C>A - GNAS(NM_001077490.1):c.1493C>A (p.(Ala498Asp), p.(=)) - GNAS_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 3 - c.-36664C>G benign, likely benign r.(?) p.(=) - - - g.57430118C>G - GNAS(NM_080425.3):c.1798C>G (p.R600G) - GNAS_000382 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC, VKGL-NL_Leiden
-?/. 1 - c.-36617C>T likely benign r.(?) p.(=) - - - g.57430165C>T - GNAS(NM_001077490.1):c.1658C>T (p.(Pro553Leu), p.(=)) - GNAS_000383 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.-36539G>C VUS, likely benign r.(?) p.(=) - - - g.57430243G>C - GNAS(NM_001077490.1):c.1736G>C (p.(Trp579Ser), p.(=)) - chr20_002438 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.-36523C>G likely benign r.(?) p.(=) - - - g.57430259C>G - GNAS(NM_001077490.1):c.1752C>G (p.(Asp584Glu), p.(Gln647Glu)) - chr20_002439 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-36460C>T VUS r.(?) p.(=) - - - g.57430322C>T - GNAS(NM_001077490.1):c.1815C>T (p.(=), p.(Leu668Phe)) - GNAS_000384 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-36438A>T likely benign r.(?) p.(=) - - - g.57430344A>T - GNAS(NM_001077490.1):c.1837A>T (p.(Thr613Ser), p.(Asp675Val)) - GNAS_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/+ 1 _1_5i c.-16812_433-37del - r,0? p.0? - - - g.57449970_57480401del - hg18 g.56883365-56913796del - GNAS_000211 - PubMed: Fernandez-Rebollo 2010 - - Germline yes - - - - Guiomar Perez de Nanclares
-/. 1 - c.-3_-1del benign r.(?) p.(=) - - - g.57466779_57466781del - GNAS(NM_001077488.2):c.-20_-18delCCG - chr20_002440 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/+ 2 _1_13_ c.(?_-1)_(*1_?)del - r,0? p.0? - - - g.(?_55926305)_(57675815_?)del, g.(?_56987684)_(59350455_?)del - - - GNAS_000212, GNAS_000213 - - - - Germline yes g.55926305_57675815del, g.56987684_59350455del - - - Guiomar Perez de Nanclares
+?/. 1 _1 c.-1959bsrC - r.(=) p.(=) - - - g.57464823|bsrC - GNAS-DMR CG11 - GNAS_000230 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - - 0.47 (controls 0.42-0.50) Johan den Dunnen
+?/. 1 _1 c.-1966bsrC - r.(=) p.(=) - - - g.57464816|bsrC - GNAS-DMR CG10 - GNAS_000229 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - - 0.40 (controls 0.35-0.44) Johan den Dunnen
+?/. 1 _1 c.-1969bsrC - r.(=) p.(=) - - - g.57464813|bsrC - GNAS-DMR CG9 - GNAS_000228 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - - 0.39 (controls 0.32-0.42) Johan den Dunnen
+?/. 1 _1 c.-1971bsrC - r.(=) p.(=) - - - g.57464811|bsrC - GNAS-DMR CG8 - GNAS_000227 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - - 0.35 (controls 0.30-0.37) Johan den Dunnen
+?/. 1 _1 c.-1979bsrC - r.(=) p.(=) - - - g.57464803|bsrC - GNAS-DMR CG7 - GNAS_000226 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - - 0.42 (controls 0.38-0.49) Johan den Dunnen
+?/. 1 _1 c.-1985bsrC - r.(=) p.(=) - - - g.57464797|bsrC - GNAS-DMR CG6 - GNAS_000225 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - - 0.35 (controls 0.30-0.38) Johan den Dunnen
+?/. 1 _1 c.-1987bsrC - r.(=) p.(=) - - - g.57464795|bsrC - GNAS-DMR CG5 - GNAS_000224 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - - 0.42 (controls 0.36-0.46) Johan den Dunnen
+?/. 1 _1 c.-1992bsrC - r.(=) p.(=) - - - g.57464790|bsrC - GNAS-DMR CG4 - GNAS_000223 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - - 0.38 (controls 0.31-0.41) Johan den Dunnen
+?/. 1 _1 c.-1994bsrC - r.(=) p.(=) - - - g.57464788|bsrC - GNAS-DMR CG3 - GNAS_000222 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - - 0.43 (controls 0.37-0.46) Johan den Dunnen
+?/. 1 _1 c.-2002bsrC - r.(=) p.(=) - - - g.57464780|bsrC - GNAS-DMR CG2 - GNAS_000221 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - - 0.42 (controls 0.38-0.47) Johan den Dunnen
+?/. 1 _1 c.-2009bsrC - r.(=) p.(=) - - - g.57464773|bsrC - GNAS-DMR CG1 - GNAS_000220 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - - 0.45 (controls 0.37-0.47) Johan den Dunnen
+?/. 1 _1 c.-2009_-1959bsrC - r.(=) p.(=) - - - g.57464773_57464823|bsrC - CG1-GNAS-DMR CG11 - GNAS_000000 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - - normal levels Johan den Dunnen
+?/+? 1 1 c.1-10_2del - r.(?) p.(0?) - - - g.57466772_57466783del g.58891717_58891728del - - GNAS_000133 - PubMed: Elli 2013 - - De novo - - - - - Francesca Marta Elli
+/. 4 1 c.1A>G - r.?, r.(?) p.?, p.Met1_Gln59del - - - g.57466782A>G g.58891727A>G - - GNAS_000005 loss of function, 1 more item PubMed: Klaassens et al. 2010, PubMed: Patten 1990, OMIM:var0001, PubMed: Aldred & Trembath 2000 - - Germline, Unknown yes - NcoI- - - Arrate Pereda, Johan den Dunnen
+?/. 1 1 c.2T>G - r.? p.? - - - g.57466783T>G g.58891728T>G - - GNAS_000232 - PubMed: Long et al. 2007 - - Germline - - - - - Arrate Pereda
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