Welcome, Home Referencelist Caselist
Welcome to the NSEuroNet database About...
cDNA Protein Classification Count Phenotype ClinVar Reference Comment
c.14A>T p.K5M unclassified 1 Show Not classified Show Show
c.34G>A p.G12S mutation 8 Show Pathogenic Show Show
c.34G>A p.G12S mutation 7 Show Pathogenic Show Show
c.35_36delinsTT p.G12V mutation 1 Show Not classified Show Show
c.35G>C p.G12A mutation 2 Show Pathogenic Show Show
c.34G>A p.G12S mutation 16 Show Pathogenic Show Show
c.35_36delinsTA p.G12V mutation 1 Show Pathogenic Show Show
c.35_36delinsTT p.G12V mutation 2 Show Not classified Show Show
c.35G>T p.G12V mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 11 Show Pathogenic Show Show
c.34G>A p.G12S mutation 3 Show Pathogenic Show Show
c.34G>A p.G12S mutation 6 Show Pathogenic Show Show
c.34G>A p.G12S mutation 30 Show Pathogenic Show Show
c.35G>C p.G12A mutation 2 Show Pathogenic Show Show
c.34G>A p.G12S mutation 30 Show Pathogenic Show Show
c.35G>C p.G12A mutation 2 Show Pathogenic Show Show
c.34G>A p.G12S mutation 22 Show Pathogenic Show Show
c.35G>C p.G12A mutation 3 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.35_36delinsAA p.G12E mutation 1 Show Pathogenic/Likely pathogenic Show Show
c.34G>T p.G12C mutation 2 Show Pathogenic Show Show
c.35G>C p.G12A mutation 3 Show Pathogenic Show Show
c.34G>A p.G12S mutation 29 Show Pathogenic Show Show
c.35G>A p.G12D mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 5 Show Pathogenic Show Show
c.34G>A p.G12S mutation 51 Show Pathogenic Show Show
c.35G>C p.G12A mutation 3 Show Pathogenic Show Show
c.34G>T p.G12C mutation 2 Show Pathogenic Show Show
c.34G>A p.G12S mutation 2 Show Pathogenic Show Show
c.34G>T p.G12C mutation 1 Show Pathogenic Show Show
c.34G>T p.G12C mutation 1 Show Pathogenic Show Show
c.35G>A p.G12D mutation 2 Show Pathogenic Show Show
c.34G>A p.G12S mutation 23 Show Pathogenic Show Show
c.35G>C p.G12A mutation 3 Show Pathogenic Show Show
c.34G>A p.G12S mutation 37 Show Pathogenic Show Show
c.35G>C p.G12A mutation 4 Show Pathogenic Show Show
c.35G>A p.G12D mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 9 Show Pathogenic Show Show
c.34G>A p.G12S mutation 3 Show Pathogenic Show Show
c.34G>A p.G12S mutation 9 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.35G>C p.G12A mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 5 Show Pathogenic Show Show
c.35G>C p.G12A mutation 1 Show Pathogenic Show Show
c.34G>T p.G12C mutation 1 Show Pathogenic Show Show
c.35G>A p.G12D mutation 1 Show Pathogenic Show Show
c.34G>T p.G12C mutation 2 Show Pathogenic Show Show
c.35G>C p.G12A mutation 4 Show Pathogenic Show Show
c.34G>A p.G12S mutation 73 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 13 Show Pathogenic Show Show
c.34G>T p.G12C mutation 1 Show Pathogenic Show Show
c.35G>C p.G12A mutation 3 Show Pathogenic Show Show
c.34G>A p.G12S mutation 9 Show Pathogenic Show Show
c.34G>A p.G12S mutation 60 Show Pathogenic Show Show
c.34G>T p.G12C mutation 3 Show Pathogenic Show Show
c.35G>C p.G12A mutation 4 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 3 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>T p.G12C mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.35_36delinsAA p.G12E mutation 1 Show Pathogenic/Likely pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>T p.G12C mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 26 Show Pathogenic Show Show
c.34G>A p.G12S mutation 9 Show Pathogenic Show Show
c.35G>C p.G12A mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.35G>C p.G12A mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 4 Show Pathogenic Show Show
c.35_36delinsTG p.G12V mutation 1 Show Not classified Show Show
c.34G>A p.G12S mutation 10 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.35G>C p.G12A mutation 1 Show Not classified Show Show
c.34G>A p.G12S mutation 4 Show Pathogenic Show Show
c.34G>A p.G12S mutation 5 Show Pathogenic Show Show
c.35G>C p.G12A mutation 3 Show Pathogenic Show Show
c.35G>A p.G12D mutation 1 Show Pathogenic Show Show
c.35G>A p.G12D mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 2 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 14 Show Pathogenic Show Show
c.35G>C p.G12A mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.35G>C p.G12A mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 16 Show Pathogenic Show Show
c.34G>T p.G12C mutation 2 Show Pathogenic Show Show
c.35G>C p.G12A mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 18 Show Pathogenic Show Show
c.35G>C p.G12A mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>T p.G12C mutation 2 Show Pathogenic Show Show
c.35G>C p.G12A mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 2 Show Pathogenic Show Show
c.34G>A p.G12S mutation 4 Show Pathogenic Show Show
c.35G>C p.G12A mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 2 Show Pathogenic Show Show
c.35G>C p.G12A mutation 2 Show Pathogenic Show Show
c.34G>A p.G12S mutation 8 Show Pathogenic Show Show
c.35G>C p.G12A mutation 2 Show Pathogenic Show Show
c.34G>A p.G12S mutation 4 Show Pathogenic Show Show
c.34G>A p.G12S mutation 2 Show Pathogenic Show Show
c.34G>A p.G12S mutation 14 Show Pathogenic Show Show
c.35G>C p.G12A mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.35G>C p.G12A mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 10 Show Pathogenic Show Show
c.34G>A p.G12S mutation 3 Show Pathogenic Show Show
c.34G>T p.G12C mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 4 Show Pathogenic Show Show
c.35G>C p.G12A mutation 3 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 5 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.35G>C p.G12D mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 1 Show Pathogenic Show Show
c.34G>A p.G12S mutation 15 Show Pathogenic Show Show
c.35G>C p.G12A mutation 1 Show Pathogenic Show Show
c.34G>T p.G12C mutation 1 Show Pathogenic Show Show
c.38G>A p.G13D mutation 2 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.38G>A p.G13D mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.38G>A p.G13D mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 3 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.38G>A p.G13D mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 4 Show Pathogenic Show Show
c.38G>A p.G13D mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 11 Show Pathogenic Show Show
c.38G>A p.G13D mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 7 Show Pathogenic Show Show
c.38G>A p.G13D mutation 1 Show Pathogenic Show Show
c.38G>A p.G13D mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 6 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.38G>A p.G13D mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 2 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.38G>A p.G13D mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.38G>A p.G13D mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.38G>A p.G13D mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 1 Show Pathogenic Show Show
c.37G>T p.G13C mutation 2 Show Pathogenic Show Show
c.64C>A p.Q22K mutation 1 Show Likely pathogenic Show Show
c.64C>A p.Q22K mutation 1 Show Likely pathogenic Show Show
c.81T>C p.H27* unclassified 1 Show Benign Show Show
c.108_110dup p.E37dup mutation 1 Show Pathogenic Show Show
c.110_111+1dupAGG p.E37dup mutation 1 Show Not classified Show Show
c.108_110dup p.E37dup mutation 1 Show Pathogenic Show Show
c.164_172dup p.Ile55_Asp57dup mutation 1 Show Not classified Show Show
c.173C>T p.T58I mutation 1 Show Pathogenic Show Show
c.173C>T p.T58I mutation 1 Show Pathogenic Show Show
c.173C>T p.T58I mutation 2 Show Pathogenic Show Show
c.173C>T p.T58I mutation 1 Show Pathogenic Show Show
c.173C>T p.T58I mutation 2 Show Pathogenic Show Show
c.173C>T p.T58I mutation 2 Show Pathogenic Show Show
c.173C>T p.T58I mutation 1 Show Pathogenic Show Show
c.175_176delinsCT p.A59L mutation 1 Show Likely pathogenic Show Show
c.175_176delinsTT p.A59F mutation 1 Show Not classified Show Show
c.175G>A p.A59T mutation 1 Show Not classified Show Show
c.176C>T p.A59G mutation 6 Show Not classified Show Show
c.179G>A p.G60D mutation 3 Show Pathogenic Show Show
c.179G>A p.G60D mutation 1 Show Pathogenic Show Show
c.179G>A p.G60D mutation 1 Show Pathogenic Show Show
c.179G>T p.G60V mutation 1 Show Pathogenic Show Show
c.186_206dup p.E62_R68dup mutation 1 Show Likely pathogenic Show Show
c.186_206dup p.Glu62_Arg68dup mutation 1 Show Likely pathogenic Show Show
c.187_207dup p.E63_D69dup mutation 2 Show Pathogenic Show Show
c.187_207dup p.E63_D69dup mutation 1 Show Pathogenic Show Show
c.187_207dup p.Glu63_Asp69dup mutation 1 Show Pathogenic Show Show
c.266C>G p.S89C unclassified 1 Show Likely pathogenic Show Show
c.350A>G p.K117R mutation 1 Show Pathogenic Show Show
c.350A>G p.K117R mutation 1 Show Pathogenic Show Show
c.350A>G p.K117R mutation 1 Show Pathogenic Show Show
c.350A>G p.K117R mutation 1 Show Pathogenic Show Show
c.437C>T p.A146V mutation 1 Show Likely pathogenic Show Show
c.437C>T p.A146V mutation 1 Show Likely pathogenic Show Show
c.437C>T p.A146V mutation 1 Show Likely pathogenic Show Show
c.436G>A p.A146T mutation 1 Show Pathogenic/Likely pathogenic Show Show
c.437C>T p.A146V mutation 1 Show Likely pathogenic Show Show
c.437C>T p.A146V mutation 1 Show Likely pathogenic Show Show
c.437C>T p.A146V mutation 1 Show Likely pathogenic Show Show
c.437C>T p.A146V mutation 1 Show Likely pathogenic Show Show
c.437C>T p.A146V mutation 1 Show Likely pathogenic Show Show
c.466C>T p.F156L mutation 2 Show Not classified Show Show
c.481_490del p.L163PfsTer52 mutation 1 Show Not classified Show Show
c.520C>T p.P174S mutation 1 Show Benign Show Show
c.4A>G p.Thr2Ala unclassified - Show Uncertain significance Show Show
c.5C>T p.Thr2Met unclassified - Show Uncertain significance Show Show
c.10T>C p.Tyr4His unclassified - Show Uncertain significance Show Show
NC_000011.9:g.(?_532616)_(2906985_?)dup - unclassified - Show Uncertain significance Show Show
NC_000011.10:g.(?_532616)_(795026_?)dup - unclassified - Show Uncertain significance Show Show
NC_000011.10:g.(?_532636)_(534322_?)dup - unclassified - Show Uncertain significance Show Show
NC_000011.9:g.(?_532631)_(534375_?)dup - unclassified - Show Uncertain significance Show Show
NC_000011.9:g.(?_532626)_(534332_?)dup - unclassified - Show Uncertain significance Show Show
NC_000011.10:g.(?_532636)_(534322_?)del - unclassified - Show Uncertain significance Show Show
NC_000011.10:g.(?_534206)_(534328_?)dup - unclassified - Show Uncertain significance Show Show
NC_000011.9:g.(?_532631)_(532755_?)dup - unclassified - Show Uncertain significance Show Show
c.11A>G p.Tyr4Cys unclassified - Show Uncertain significance Show Show
NC_000011.10:g.(?_532616)_(534342_?)dup - unclassified - Show Uncertain significance Show Show
c.16C>T p.Leu6= unclassified - Show Likely benign Show Show
c.17_19TGG[3] p.Val9del unclassified - Show Uncertain significance Show Show
c.27_29dup p.Gly10dup unclassified - Show Uncertain significance Show Show
c.31G>A p.Ala11Thr unclassified - Show Uncertain significance Show Show
c.34G>C p.Gly12Arg unclassified - Show Pathogenic/Likely pathogenic Show Show
c.35_36delinsAT p.Gly12Asp unclassified - Show Pathogenic Show Show
c.35_36delinsCT p.Gly12Ala unclassified - Show Pathogenic Show Show
c.36C>A p.Gly12= unclassified - Show not provided Show Show
c.36C>T p.Gly12= unclassified - Show Likely benign Show Show
c.37G>A p.Gly13Ser unclassified - Show Likely pathogenic Show Show
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 11p15.5-15.4chr11:193187-5291338x3 unclassified - Show Pathogenic Show Show
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 11p15.5-13chr11:235934-33826995x3 unclassified - Show Pathogenic Show Show
GRCh37/hg19 11p15.5(chr11:532230-699404)x3 11p15.5chr11:532230-699404x3 unclassified - Show Uncertain significance Show Show
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 11p15.5-15.4chr11:230615-6644927x3 unclassified - Show Pathogenic Show Show
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 11p15.5-12chr11:230615-37698540x3 unclassified - Show Pathogenic Show Show
GRCh37/hg19 11p15.5(chr11:381754-821676)x3 11p15.5chr11:381754-821676x3 unclassified - Show Benign Show Show
GRCh37/hg19 11p15.5(chr11:529101-577534)x1 11p15.5chr11:529101-577534x1 unclassified - Show Benign Show Show
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 11p15.5-13chr11:230615-31995219x3 unclassified - Show Pathogenic Show Show
GRCh37/hg19 11p15.5(chr11:285188-561859)x3 11p15.5chr11:285188-561859x3 unclassified - Show Benign Show Show
GRCh37/hg19 11p15.5(chr11:353757-561787)x3 11p15.5chr11:353757-561787x3 unclassified - Show Benign Show Show
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 11p15.5-15.4chr11:230615-4851537x3 unclassified - Show Pathogenic Show Show
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) 11p15.5-15.3chr11:193146-12643136 unclassified - Show Pathogenic Show Show
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 11p15.5-15.4chr11:230615-9704511x3 unclassified - Show Pathogenic Show Show
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 11p15.5-15.1chr11:230615-17099213x3 unclassified - Show Pathogenic Show Show
GRCh37/hg19 11p15.5(chr11:532230-699463)x3 11p15.5chr11:532230-699463x3 unclassified - Show Uncertain significance Show Show
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 11p15.5-14.3chr11:230615-25584362x3 unclassified - Show Pathogenic Show Show
GRCh37/hg19 11p15.5(chr11:230615-1150353)x3 11p15.5chr11:230615-1150353x3 unclassified - Show Uncertain significance Show Show
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 11p15.5-15.4chr11:210300-8664358x3 unclassified - Show Pathogenic Show Show
c.37G>C p.Gly13Arg unclassified - Show Pathogenic/Likely pathogenic Show Show
GRCh37/hg19 11p15.5(chr11:494540-616565)x3 11p15.5chr11:494540-616565x3 unclassified - Show Uncertain significance Show Show
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 11p15.5-13chr11:202758-31726224x3 unclassified - Show Pathogenic Show Show
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 11p15.5-15.4chr11:218365-3377077x3 unclassified - Show Pathogenic Show Show
c.38G>T p.Gly13Val unclassified - Show Pathogenic/Likely pathogenic Show Show
c.38G>C p.Gly13Ala unclassified - Show Likely pathogenic Show Show
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 11p15.5-15.1chr11:446754-18904742x3 unclassified - Show Pathogenic Show Show
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 11p15.5-15.4chr11:196966-4435344x3 unclassified - Show Pathogenic Show Show
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 11p15.5-15.4chr11:196966-3377077x3 unclassified - Show Pathogenic Show Show
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 11p15.5-15.4chr11:196855-5321874x3 unclassified - Show Pathogenic Show Show
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 11p15.5-15.4chr11:61793-10727969x3 unclassified - Show Pathogenic Show Show
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 11p15.5chr11:196855-2116185x3 unclassified - Show Pathogenic Show Show
c.41T>G p.Val14Gly unclassified - Show Uncertain significance Show Show
c.42G>A p.Val14= unclassified - Show Likely benign Show Show
c.44G>A p.Gly15Asp unclassified - Show Uncertain significance Show Show
c.45C>T p.Gly15= unclassified - Show Conflicting interpretations of pathogenicity Show Show
c.54G>C p.Ala18= unclassified - Show Likely benign Show Show
c.54G>A p.Ala18= unclassified - Show Benign/Likely benign Show Show
c.57G>C p.Leu19= unclassified - Show Likely benign Show Show
c.60C>T p.Thr20= unclassified - Show Likely benign Show Show
c.64C>T p.Gln22Ter unclassified - Show Uncertain significance Show Show
c.69G>A p.Leu23= unclassified - Show Likely benign Show Show
c.84T>C p.Phe28= unclassified - Show Likely benign Show Show
c.90C>T p.Asp30= unclassified - Show Likely benign Show Show
c.96C>T p.Tyr32= unclassified - Show Likely benign Show Show
c.97G>A p.Asp33Asn unclassified - Show Uncertain significance Show Show
c.100C>T p.Pro34Ser unclassified - Show Uncertain significance Show Show
c.102C>G p.Pro34= unclassified - Show Likely benign Show Show
c.102C>T p.Pro34= unclassified - Show Likely benign Show Show
c.106A>G p.Ile36Val unclassified - Show Uncertain significance Show Show
c.120C>T p.Tyr40= unclassified - Show Likely benign Show Show
c.133G>A p.Val45Ile unclassified - Show Uncertain significance Show Show
c.137T>C p.Ile46Thr unclassified - Show Likely pathogenic Show Show
c.141T>C p.Asp47= unclassified - Show Likely benign Show Show
c.144G>A p.Gly48= unclassified - Show Likely benign Show Show
c.145G>A p.Glu49Lys unclassified - Show Likely pathogenic Show Show
c.150G>A p.Thr50= unclassified - Show Likely benign Show Show
c.153C>T p.Cys51= unclassified - Show Likely benign Show Show
c.156G>T p.Leu52= unclassified - Show Likely benign Show Show
c.156G>A p.Leu52= unclassified - Show Likely benign Show Show
c.162C>T p.Asp54= unclassified - Show Likely benign Show Show
c.165_166insTCCGGAAGCAGGTGGTCATTGATGGGGAGACGTGCCTGTTGGACATC p.Leu56fs unclassified - Show Uncertain significance Show Show
c.171T>C p.Asp57= unclassified - Show Likely benign Show Show
c.172_177delinsGTCCTGGATGTT p.Thr58_Ala59delinsValLeuAspVal unclassified - Show Pathogenic Show Show
c.174_192del p.Gly60fs unclassified - Show Uncertain significance Show Show
c.174C>T p.Thr58= unclassified - Show Likely benign Show Show
c.175G>A p.Ala59Thr unclassified - Show Likely pathogenic Show Show
c.177C>T p.Ala59= unclassified - Show Benign/Likely benign Show Show
c.178G>A p.Gly60Ser unclassified - Show Uncertain significance Show Show
c.181C>A p.Gln61Lys unclassified - Show Pathogenic/Likely pathogenic Show Show
c.181C>G p.Gln61Glu unclassified - Show Likely pathogenic Show Show
c.182_183delinsGT p.Gln61Arg unclassified - Show Likely pathogenic Show Show
c.182_183delinsGA p.Gln61Arg unclassified - Show Likely pathogenic Show Show
c.182A>C p.Gln61Pro unclassified - Show Likely pathogenic Show Show
c.182A>G p.Gln61Arg unclassified - Show Likely pathogenic Show Show
c.182A>T p.Gln61Leu unclassified - Show Pathogenic/Likely pathogenic Show Show
c.183G>T p.Gln61His unclassified - Show Likely pathogenic Show Show
c.183G>C p.Gln61His unclassified - Show Likely pathogenic Show Show
c.187G>A p.Glu63Lys unclassified - Show Pathogenic Show Show
c.188_230dup p.Phe78fs unclassified - Show Uncertain significance Show Show
c.203G>A p.Arg68Gln unclassified - Show Uncertain significance Show Show
c.214A>C p.Met72Leu unclassified - Show Uncertain significance Show Show
c.219C>T p.Arg73= unclassified - Show Likely benign Show Show
c.222C>T p.Thr74= unclassified - Show Benign Show Show
c.228G>A p.Glu76= unclassified - Show Likely benign Show Show
c.231C>T p.Gly77= unclassified - Show Likely benign Show Show
c.234C>T p.Phe78= unclassified - Show Likely benign Show Show
c.237G>A p.Leu79= unclassified - Show Likely benign Show Show
c.238T>A p.Cys80Ser unclassified - Show Uncertain significance Show Show
c.245T>G p.Phe82Cys unclassified - Show Uncertain significance Show Show
c.249C>T p.Ala83= unclassified - Show Likely benign Show Show
c.257A>C p.Asn86Thr unclassified - Show Benign Show Show
c.260C>A p.Thr87Asn unclassified - Show Uncertain significance Show Show
c.263A>G p.Lys88Arg unclassified - Show Uncertain significance Show Show
c.270dup p.Glu91Ter unclassified - Show Uncertain significance Show Show
c.274G>A p.Asp92Asn unclassified - Show Uncertain significance Show Show
c.275A>C p.Asp92Ala unclassified - Show Uncertain significance Show Show
c.277A>G p.Ile93Val unclassified - Show Uncertain significance Show Show
c.280C>T p.His94Tyr unclassified - Show Uncertain significance Show Show
c.282C>G p.His94Gln unclassified - Show Uncertain significance Show Show
c.282C>T p.His94= unclassified - Show Likely benign Show Show
c.295C>G p.Gln99Glu unclassified - Show Uncertain significance Show Show
c.297G>T p.Gln99His unclassified - Show Uncertain significance Show Show
c.302A>G p.Lys101Arg unclassified - Show Uncertain significance Show Show
c.304C>T p.Arg102Trp unclassified - Show Uncertain significance Show Show
c.309G>A p.Val103= unclassified - Show Benign Show Show
c.312G>A p.Lys104= unclassified - Show Likely benign Show Show
c.317C>T p.Ser106Leu unclassified - Show Uncertain significance Show Show
c.317C>G p.Ser106Trp unclassified - Show Uncertain significance Show Show
c.330C>T p.Pro110= unclassified - Show Benign/Likely benign Show Show
c.332T>C p.Met111Thr unclassified - Show Uncertain significance Show Show
c.339G>A p.Leu113= unclassified - Show Likely benign Show Show
c.357C>T p.Asp119= unclassified - Show Benign Show Show
c.358C>T p.Leu120= unclassified - Show Likely benign Show Show
c.362C>T p.Ala121Val unclassified - Show Uncertain significance Show Show
c.363T>C p.Ala121= unclassified - Show Likely benign Show Show
c.367C>T p.Arg123Cys unclassified - Show Conflicting interpretations of pathogenicity Show Show
c.368G>C p.Arg123Pro unclassified - Show Uncertain significance Show Show
c.369C>T p.Arg123= unclassified - Show Benign Show Show
c.374T>C p.Val125Ala unclassified - Show Uncertain significance Show Show
c.378A>G p.Glu126= unclassified - Show Benign Show Show
c.382C>T p.Arg128Trp unclassified - Show Uncertain significance Show Show
c.383G>A p.Arg128Gln unclassified - Show Uncertain significance Show Show
c.383G>C p.Arg128Pro unclassified - Show Uncertain significance Show Show
c.388G>C p.Ala130Pro unclassified - Show Uncertain significance Show Show
c.391C>T p.Gln131Ter unclassified - Show Uncertain significance Show Show
c.394G>A p.Asp132Asn unclassified - Show Uncertain significance Show Show
c.397C>T p.Leu133Phe unclassified - Show Uncertain significance Show Show
c.398T>A p.Leu133His unclassified - Show Uncertain significance Show Show
c.401C>T p.Ala134Val unclassified - Show Uncertain significance Show Show
c.407G>A p.Ser136Asn unclassified - Show Uncertain significance Show Show
c.410A>C p.Tyr137Ser unclassified - Show Uncertain significance Show Show
c.411C>T p.Tyr137= unclassified - Show Likely benign Show Show
c.412_431del p.Gly138fs unclassified - Show Uncertain significance Show Show
c.412G>A p.Gly138Ser unclassified - Show Uncertain significance Show Show
c.413G>A p.Gly138Asp unclassified - Show Uncertain significance Show Show
c.418C>T p.Pro140Ser unclassified - Show Uncertain significance Show Show
c.419C>T p.Pro140Leu unclassified - Show Uncertain significance Show Show
c.422A>G p.Tyr141Cys unclassified - Show Uncertain significance Show Show
c.423C>T p.Tyr141= unclassified - Show Likely benign Show Show
c.424A>C p.Ile142Leu unclassified - Show Uncertain significance Show Show
c.426C>T p.Ile142= unclassified - Show Likely benign Show Show
c.426C>G p.Ile142Met unclassified - Show Uncertain significance Show Show
c.427G>C p.Glu143Gln unclassified - Show Uncertain significance Show Show
c.435G>A p.Ser145= unclassified - Show Likely benign Show Show
c.436G>C p.Ala146Pro unclassified - Show Likely pathogenic Show Show
c.441G>A p.Lys147= unclassified - Show Likely benign Show Show
c.445C>T p.Arg149Trp unclassified - Show Uncertain significance Show Show
c.448C>T p.Gln150Ter unclassified - Show Uncertain significance Show Show
c.452G>C p.Gly151Ala unclassified - Show Uncertain significance Show Show
c.460G>A p.Asp154Asn unclassified - Show Uncertain significance Show Show
c.461A>T p.Asp154Val unclassified - Show Uncertain significance Show Show
c.463G>T p.Ala155Ser unclassified - Show Uncertain significance Show Show
c.464C>T p.Ala155Val unclassified - Show Uncertain significance Show Show
c.468C>T p.Phe156= unclassified - Show Likely benign Show Show
c.473C>T p.Thr158Met unclassified - Show Uncertain significance Show Show
c.474G>A p.Thr158= unclassified - Show Likely benign Show Show
c.477G>A p.Leu159= unclassified - Show Benign Show Show
c.481C>T p.Arg161Cys unclassified - Show Uncertain significance Show Show
c.482G>A p.Arg161His unclassified - Show Uncertain significance Show Show
c.487A>T p.Ile163Phe unclassified - Show Uncertain significance Show Show
c.490C>T p.Arg164Trp unclassified - Show Uncertain significance Show Show
c.491G>C p.Arg164Pro unclassified - Show Uncertain significance Show Show
c.491G>A p.Arg164Gln unclassified - Show Uncertain significance Show Show
c.492G>A p.Arg164= unclassified - Show Likely benign Show Show
c.498C>A p.His166Gln unclassified - Show Uncertain significance Show Show
c.503T>C p.Leu168Pro unclassified - Show Uncertain significance Show Show
c.505C>T p.Arg169Trp unclassified - Show Uncertain significance Show Show
c.506G>A p.Arg169Gln unclassified - Show Uncertain significance Show Show
c.508A>T p.Lys170Ter unclassified - Show Uncertain significance Show Show
c.510G>A p.Lys170= unclassified - Show Likely benign Show Show
c.516C>T p.Asn172= unclassified - Show Likely benign Show Show
c.518C>T p.Pro173Leu unclassified - Show Uncertain significance Show Show
c.519T>G p.Pro173= unclassified - Show Likely benign Show Show
c.520C>G p.Pro174Ala unclassified - Show Uncertain significance Show Show
c.532G>C p.Gly178Arg unclassified - Show Uncertain significance Show Show
c.534C>G p.Gly178= unclassified - Show Likely benign Show Show
c.535C>G p.Pro179Ala unclassified - Show Likely benign Show Show
c.537C>T p.Pro179= unclassified - Show Likely benign Show Show
c.538G>A p.Gly180Ser unclassified - Show Uncertain significance Show Show
c.539G>A p.Gly180Asp unclassified - Show Uncertain significance Show Show
c.544A>C p.Met182Leu unclassified - Show Uncertain significance Show Show
c.544A>G p.Met182Val unclassified - Show Uncertain significance Show Show
c.546G>A p.Met182Ile unclassified - Show Uncertain significance Show Show
c.548G>A p.Ser183Asn unclassified - Show Uncertain significance Show Show
c.552dup p.Lys185fs unclassified - Show Uncertain significance Show Show
c.565T>G p.Ser189Ala unclassified - Show Uncertain significance Show Show
c.566C>T p.Ser189Phe unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.6-2A>C - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.-54+7G>A - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.111+6C>T - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.290+6C>A - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.111+14C>T - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.450+18C>T - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.451-10C>T - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.451-48C>T - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.451-341G>A - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.450+107_450+112dup - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.451-4C>T - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.290+9C>T - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.450+84C>A - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.-95_-90CGGCCC[1] - unclassified - Show Benign Show Show
NM_005343.4(HRAS):c.-10C>T - unclassified - Show Benign Show Show
NM_005343.4(HRAS):c.*1C>T - unclassified - Show Benign/Likely benign Show Show
NM_005343.4(HRAS):c.5+14C>A - unclassified - Show Benign Show Show
NM_005343.4(HRAS):c.290+1G>C - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.290+10G>A - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.450+20C>A - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.112-10C>T - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.-19C>T - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.5+20C>T - unclassified - Show Benign Show Show
NM_005343.4(HRAS):c.451-8T>C - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.291-8C>T - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.450+124C>T - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.450+132_450+151del - unclassified - Show Benign Show Show
NM_005343.4(HRAS):c.291-4_291-3del - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.451-3C>T - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.451-5C>G - unclassified - Show Conflicting interpretations of pathogenicity Show Show
NM_005343.4(HRAS):c.112-7_112-5del - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.450+171C>T - unclassified - Show not provided Show Show
NM_005343.4(HRAS):c.451-5C>T - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.111+10G>A - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.291-6T>G - unclassified - Show Benign Show Show
NM_005343.4(HRAS):c.-5G>A - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.112-59_*6-51del - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.450+139dup - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.291-9A>G - unclassified - Show Conflicting interpretations of pathogenicity Show Show
NM_005343.4(HRAS):c.5+14C>G - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.451-282C>T - unclassified - Show Benign Show Show
NM_005343.4(HRAS):c.-53-40_-53-29del - unclassified - Show Benign Show Show
NM_005343.4(HRAS):c.-53-40_-53-35del - unclassified - Show Benign Show Show
NM_005343.4(HRAS):c.450+174G>A - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.110_111+1dup - unclassified - Show Pathogenic Show Show
NM_005343.4(HRAS):c.451-6T>G - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.450+17C>T - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.450+36dup - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.450+35A>C - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.450+31A>G - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.111+18G>C - unclassified - Show Uncertain significance Show Show
NM_005343.4(HRAS):c.112-4G>A - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.451-168T>G - unclassified - Show Benign Show Show
NM_005343.4(HRAS):c.-53-17A>G - unclassified - Show Benign Show Show
NM_005343.4(HRAS):c.291-17C>G - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.111+15G>A - unclassified - Show Benign Show Show
NM_005343.4(HRAS):c.112-7C>T - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.450+144C>T - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.111+7C>T - unclassified - Show Likely benign Show Show
NM_005343.4(HRAS):c.290+9C>G - unclassified - Show Uncertain significance Show Show
Gene:
Legal Information | Impressum | Disclaimer | Haftungsausschluss