All variants in the GNAS-AS1 gene

Information The variants shown are described using the NR_002785.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
-?/. - n.819+1111G>T r.(?) - - likely benign g.57415881C>A - GNAS(NM_016592.3):c.720C>A (p.I240=), GNAS(NM_016592.5):c.720C>A (p.I240=) - GNAS-AS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - n.819+1111G>T r.(?) - - likely benign g.57415881C>A - GNAS(NM_016592.3):c.720C>A (p.I240=), GNAS(NM_016592.5):c.720C>A (p.I240=) - GNAS-AS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.819+1116G>T r.(?) - - benign g.57415876C>A g.58840821C>A GNAS(NM_001309861.1):c.-1093C>A (p.(=)), GNAS(NM_016592.4):c.715C>A (p.P239T), GNAS(NM_016592.5):c.715C>A (p.P239T) - GNAS_000408 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - n.819+1116G>T r.(?) - - benign g.57415876C>A g.58840821C>A GNAS(NM_001309861.1):c.-1093C>A (p.(=)), GNAS(NM_016592.4):c.715C>A (p.P239T), GNAS(NM_016592.5):c.715C>A (p.P239T) - GNAS_000408 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.819+1116G>T r.(?) - - benign g.57415876C>A - GNAS(NM_001309861.1):c.-1093C>A (p.(=)), GNAS(NM_016592.4):c.715C>A (p.P239T), GNAS(NM_016592.5):c.715C>A (p.P239T) - GNAS_000408 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - n.819+1180A>T r.(?) - - benign g.57415812T>A g.58840757T>A GNAS(NM_016592.5):c.651T>A (p.R217=) - GNAS_000407 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.819+1192C>T r.(?) - - likely benign g.57415800G>A g.58840745G>A GNAS(NM_016592.3):c.639G>A (p.E213=) - GNAS_000406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.819+1197_819+1199del r.(?) - - VUS g.57415798_57415800del g.58840743_58840745del GNAS(NM_016592.2):c.632_634del (p.(Glu213del)) - GNAS-AS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.819+1223T>A r.(?) - - VUS g.57415769A>T - GNAS(NM_016592.5):c.608A>T (p.D203V) - GNAS-AS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.819+1238T>C r.(?) - - likely benign g.57415754A>G - GNAS(NM_016592.2):c.593A>G (p.(Asp198Gly)) - GNAS-AS1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - n.819+1239C>T r.(?) - - likely benign g.57415753G>A g.58840698G>A GNAS(NM_016592.2):c.592G>A (p.(Asp198Asn)) - GNAS_000405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.819+1245del r.(?) - - VUS g.57415749del - GNAS(NM_016592.2):c.588delC (p.(Glu197fs)) - GNAS-AS1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - n.819+1255C>T r.(?) - - likely benign g.57415737G>A g.58840682G>A GNAS(NM_016592.3):c.576G>A (p.E192=) - GNAS_000459 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - n.819+1270G>T r.(?) - - likely benign g.57415722C>A g.58840667C>A GNAS(NM_016592.2):c.561C>A (p.(Ser187Arg)) - GNAS_000404 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.819+1292G>A r.(?) - - VUS g.57415700C>T g.58840645C>T GNAS(NM_016592.2):c.539C>T (p.(Pro180Leu)) - GNAS-AS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - n.819+1294C>T r.(?) - - benign g.57415698G>A g.58840643G>A GNAS(NM_016592.3):c.537G>A (p.P179=), GNAS(NM_016592.5):c.537G>A (p.P179=) - GNAS_000458 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.819+1294C>T r.(?) - - likely benign g.57415698G>A - GNAS(NM_016592.3):c.537G>A (p.P179=), GNAS(NM_016592.5):c.537G>A (p.P179=) - GNAS_000458 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - n.819+1300G>T r.(?) - - likely benign g.57415692C>A - GNAS(NM_016592.5):c.531C>A (p.R177=) - GNAS-AS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.819+1302G>A r.(?) - - likely benign g.57415690C>T - GNAS(NM_016592.5):c.529C>T (p.R177C) - GNAS-AS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.819+1317C>T r.(?) - - likely benign g.57415675G>A - GNAS(NM_016592.3):c.514G>A (p.D172N), GNAS(NM_016592.5):c.514G>A (p.D172N) - GNAS-AS1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.819+1317C>T r.(?) - - likely benign g.57415675G>A - GNAS(NM_016592.3):c.514G>A (p.D172N), GNAS(NM_016592.5):c.514G>A (p.D172N) - GNAS-AS1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.819+1347G>T r.(?) - - VUS g.57415645C>A - GNAS(NM_016592.3):c.484C>A (p.R162S) - GNAS-AS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - n.819+1390C>T r.(?) - - benign g.57415602G>A - GNAS(NM_016592.3):c.441G>A (p.P147=), GNAS(NM_016592.5):c.441G>A (p.P147=) - GNAS-AS1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.819+1390C>T r.(?) - - likely benign g.57415602G>A - GNAS(NM_016592.3):c.441G>A (p.P147=), GNAS(NM_016592.5):c.441G>A (p.P147=) - GNAS-AS1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.819+1413C>G r.(?) - - VUS g.57415579G>C - GNAS(NM_016592.5):c.418G>C (p.E140Q) - GNAS-AS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - n.819+1426_819+1449del r.(?) - - likely benign g.57415548_57415571del g.58840493_58840516del GNAS(NM_016592.2):c.382_405del (p.(Ala132_Thr139del)) - GNAS_000402 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.819+1433G>A r.(?) - - VUS g.57415559C>T g.58840504C>T GNAS(NM_016592.3):c.398C>T (p.P133L), GNAS(NM_016592.5):c.398C>T (p.P133L, p.(Pro133Leu)) - GNAS-AS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - n.819+1433G>A r.(?) - - likely benign g.57415559C>T g.58840504C>T GNAS(NM_016592.3):c.398C>T (p.P133L), GNAS(NM_016592.5):c.398C>T (p.P133L, p.(Pro133Leu)) - GNAS-AS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.819+1433G>A r.(?) - - VUS g.57415559C>T - GNAS(NM_016592.3):c.398C>T (p.P133L), GNAS(NM_016592.5):c.398C>T (p.P133L, p.(Pro133Leu)) - GNAS-AS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.819+1433G>A r.(?) - - likely benign g.57415559C>T - GNAS(NM_016592.3):c.398C>T (p.P133L), GNAS(NM_016592.5):c.398C>T (p.P133L, p.(Pro133Leu)) - GNAS-AS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - n.819+1435G>T r.(?) - - benign g.57415557C>A - GNAS(NM_016592.5):c.396C>A (p.A132=) - GNAS-AS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.819+1449C>T r.(?) - - likely benign g.57415543G>A - GNAS(NM_016592.5):c.382G>A (p.E128K) - GNAS-AS1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - n.819+1456G>C r.(?) - - likely benign g.57415536C>G - GNAS(NM_016592.3):c.375C>G (p.F125L) - GNAS-AS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.819+1473C>T r.(?) - - VUS g.57415519G>A - GNAS(NM_016592.2):c.358G>A (p.(Glu120Lys)) - GNAS-AS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.819+1481_819+1504dup r.(?) - - VUS g.57415491_57415514dup - GNAS(NM_016592.5):c.330_353dupGACCGAGAGCGAGACCGAGTCCGA (p.T111_E118dup) - GNAS-AS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.819+1537G>A r.(?) - - benign g.57415455C>T g.58840400C>T GNAS(NM_001309861.1):c.-1514C>T (p.(=)), GNAS(NM_016592.5):c.294C>T (p.P98=) - GNAS_000401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.819+1537G>A r.(?) - - likely benign g.57415455C>T g.58840400C>T GNAS(NM_001309861.1):c.-1514C>T (p.(=)), GNAS(NM_016592.5):c.294C>T (p.P98=) - GNAS_000401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.819+1572C>T r.(?) - - VUS g.57415420G>A - GNAS(NM_001309861.1):c.-1549G>A (p.(=)) - GNAS-AS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.819+1595del r.(?) - - VUS g.57415401del - GNAS(NM_016592.5):c.240delC (p.E81Nfs*21) - GNAS-AS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - n.819+1626G>T r.(?) - - likely benign g.57415366C>A g.58840311C>A GNAS(NM_016592.2):c.205C>A (p.(His69Asn)) - GNAS_000457 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - n.819+1685T>C r.(?) - - likely benign g.57415307A>G g.58840252A>G GNAS(NM_016592.3):c.146A>G (p.N49S) - GNAS_000456 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - n.819+1693G>T r.(?) - - likely benign g.57415299C>A - GNAS(NM_016592.3):c.138C>A (p.A46=) - GNAS-AS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - n.819+1695C>G r.(?) - - likely benign g.57415297G>C - GNAS(NM_001309861.1):c.-1672G>C (p.(=)) - GNAS-AS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.819+1703C>T r.(?) - - VUS g.57415289G>A - GNAS(NM_016592.3):c.128G>A (p.R43H) - GNAS-AS1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - n.819+1763G>A r.(?) - - likely benign g.57415229C>T g.58840174C>T GNAS(NM_016592.2):c.68C>T (p.(Pro23Leu)) - GNAS_000400 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - n.819+1774G>A r.(?) - - likely benign g.57415218C>T g.58840163C>T GNAS(NM_016592.3):c.57C>T (p.D19=) - GNAS_000399 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - n.819+1798G>A r.(?) - - likely benign g.57415194C>T - GNAS(NM_016592.5):c.33C>T (p.R11=) - GNAS-AS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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