Unique variants in gene ARAF

Information The variants shown are described using the NM_001256196.1 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 - c.44C>T VUS r.(?) p.(Ser15Phe) g.47422410C>T - ARAF(NM_001256196.1):c.44C>T (p.S15F) - SYN1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.59C>T VUS r.(?) p.(Thr20Ile) g.47422425C>T - ARAF(NM_001256196.1):c.59C>T (p.(Thr20Ile)) - ARAF_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.201-3C>T likely benign r.spl? p.? g.47424193C>T - ARAF(NM_001256196.1):c.201-3C>T - ARAF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.449A>G likely benign r.(?) p.(Asn150Ser) g.47424529A>G - ARAF(NM_001256196.1):c.449A>G (p.(Asn150Ser)) - SYN1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.465A>G likely benign r.(?) p.(=) g.47424648A>G - ARAF(NM_001256196.1):c.465A>G (p.(=), p.?) - SYN1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.551C>A - r.(?) p.(Thr184Asn) g.47424734C>A - - - ARAF_000006 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.633G>C VUS r.(?) p.(Gln211His) g.47426104G>C - ARAF(NM_001256196.1):c.633G>C (p.Q211H) - SYN1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.736+8C>A likely benign r.(=) p.(=) g.47426318C>A - ARAF(NM_001256196.1):c.736+8C>A (p.(=)) - SYN1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.794G>T likely benign r.(?) p.(Ser265Ile) g.47426442G>T - ARAF(NM_001256196.1):c.794G>T (p.(Ser265Ile), p.(=), p.(Ser262Ile)) - SYN1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.814T>G likely benign r.(?) p.(Ser272Ala) g.47426462T>G - ARAF(NM_001256196.1):c.814T>G (p.S272A) - ARAF_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1019T>C VUS r.(?) p.(Val340Ala) g.47426765T>C - ARAF(NM_001256196.1):c.1019T>C (p.(Val340Ala), p.(=), p.(Val337Ala)) - ARAF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1027G>A VUS r.(?) p.(Val343Met) g.47426773G>A - ARAF(NM_001256196.1):c.1027G>A (p.(Val343Met), p.(=), p.(Val340Met)) - SYN1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1787A>C likely benign r.(?) p.(Glu596Ala) g.47430813A>C - ARAF(NM_001256196.1):c.1787A>C (p.E596A) - ARAF_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*1296G>A likely benign r.(=) p.(=) g.47432152G>A - SYN1(NM_006950.3):c.*111C>T - SYN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*1359G>T benign r.(=) p.(=) g.47432215G>T - SYN1(NM_006950.3):c.*48C>A - SYN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*1529G>A likely benign r.(=) p.(=) g.47432385G>A - SYN1(NM_006950.3):c.1996C>T (p.L666=) - SYN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*2589T>G likely benign r.(=) p.(=) g.47433445T>G - SYN1(NM_006950.3):c.1938A>C (p.P646=) - SYN1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 3 - c.*2828T>C benign, likely benign r.(=) p.(=) g.47433684T>C - SYN1(NM_006950.3):c.1699A>G (p.T567A) - SYN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.*2867G>A VUS r.(=) p.(=) g.47433723G>A - SYN1(NM_006950.3):c.1660C>T (p.P554S) - SYN1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*2898A>G likely benign r.(=) p.(=) g.47433754A>G - SYN1(NM_006950.3):c.1629T>C (p.P543=) - SYN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.*2912C>T likely benign r.(=) p.(=) g.47433768C>T - SYN1(NM_006950.3):c.1615G>A (p.G539S) - SYN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
-?/. 1 - c.*3089G>A likely benign r.(=) p.(=) g.47433945G>A - SYN1(NM_006950.3):c.1438C>T (p.Pro480Ser) - SYN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*3299A>G likely benign r.(=) p.(=) g.47434155A>G - SYN1(NM_006950.3):c.1325T>C (p.(Leu442Pro)) - SYN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*3557G>A likely benign r.(=) p.(=) g.47434413G>A - SYN1(NM_006950.3):c.1305+114C>T - SYN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.*3712G>A pathogenic r.(=) p.(=) g.47434568G>A - SYN1(NM_006950.3):c.1264C>T (p.R422*) - SYN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*3824G>A likely benign r.(=) p.(=) g.47434680G>A - SYN1(NM_006950.3):c.1159-7C>T (p.(=)) - SYN1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.*4725G>A likely benign r.(=) p.(=) g.47435581G>A - SYN1(NM_006950.3):c.1107C>T (p.I369=) - SYN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.*4785_*4791del likely benign r.(=) p.(=) g.47435641_47435647del - SYN1(NM_006950.3):c.1056-14_1056-8del (p.(=)) - SYN1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*5027G>A likely benign r.(=) p.(=) g.47435883G>A - SYN1(NM_006950.3):c.980+14C>T - SYN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*5077C>T likely benign r.(=) p.(=) g.47435933C>T - SYN1(NM_006950.3):c.944G>A (p.R315H) - SYN1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*5317C>T likely benign r.(=) p.(=) g.47436173C>T - SYN1(NM_006950.3):c.838-134G>A - SYN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.*13505C>T VUS, likely benign r.(=) p.(=) g.47444361C>T - SYN1(NM_006950.3):c.775-7461G>A (p.(=)), TIMP1(NM_003254.2):c.148C>T (p.P50S) - SYN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.*13552G>T likely benign r.(=) p.(=) g.47444408G>T - TIMP1(NM_003254.2):c.195G>T (p.M65I) - SYN1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*14067G>A likely benign r.(=) p.(=) g.47444923G>A - SYN1(NM_006950.3):c.775-8023C>T - SYN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*14082T>A likely benign r.(=) p.(=) g.47444938T>A - TIMP1(NM_003254.2):c.329-4T>A (p.?) - SYN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*14165C>G likely benign r.(=) p.(=) g.47445021C>G - SYN1(NM_006950.3):c.775-8121G>C - SYN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*14441C>T likely benign r.(=) p.(=) g.47445297C>T - SYN1(NM_006950.3):c.775-8397G>A - SYN1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*15122C>T likely benign r.(=) p.(=) g.47445978C>T - TIMP1(NM_003254.2):c.512C>T (p.(Thr171Met)) - SYN1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*15164G>A likely benign r.(=) p.(=) g.47446020G>A - TIMP1(NM_003254.2):c.554G>A (p.R185H) - SYN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*15184C>T VUS r.(=) p.(=) g.47446040C>T - TIMP1(NM_003254.2):c.574C>T (p.(Arg192Trp)) - SYN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*15185G>A likely benign r.(=) p.(=) g.47446041G>A - TIMP1(NM_003254.2):c.575G>A (p.(Arg192Gln)) - SYN1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*15221C>T likely benign r.(=) p.(=) g.47446077C>T - TIMP1(NM_003254.2):c.611C>T (p.S204F) - SYN1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.*33595G>A likely pathogenic r.(=) p.(=) g.47464451G>A - SYN1(NM_006950.3):c.700C>T (p.(Arg234Ter)) - SYN1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*33706A>G likely benign r.(=) p.(=) g.47464562A>G - SYN1(NM_006950.3):c.684+60T>C - SYN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*33787G>T VUS r.(=) p.(=) g.47464643G>T - SYN1():c.663C>A (p.(Asn221Lys)) - SYN1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*33851C>T likely benign r.(=) p.(=) g.47464707C>T - SYN1(NM_006950.3):c.599G>A (p.S200N) - SYN1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*33869C>T VUS r.(=) p.(=) g.47464725C>T - SYN1(NM_006950.3):c.581G>A (p.R194H) - SYN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 5 - c.*33870G>A VUS, likely benign r.(=) p.(=) g.47464726G>A - SYN1(NM_006950.3):c.580C>T (p.R194C) - SYN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/. 1 - c.*35505A>G benign r.(=) p.(=) g.47466361A>G - SYN1(NM_006950.3):c.510T>C (p.N170=) - SYN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.*35543T>G likely benign r.(=) p.(=) g.47466399T>G - SYN1(NM_006950.3):c.472A>C (p.N158H) - SYN1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 2 - c.*35565A>C likely benign r.(=) p.(=) g.47466421A>C - SYN1(NM_006950.3):c.450T>G (p.D150E) - SYN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 2 - c.*35693T>C likely benign r.(=) p.(=) g.47466549T>C - SYN1(NM_006950.3):c.426A>G (p.K142=) - SYN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.*47908G>A likely benign r.(=) p.(=) g.47478764G>A - SYN1(NM_006950.3):c.364C>T (p.(Pro122Ser)) - SYN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*48083C>A likely benign r.(=) p.(=) g.47478939C>A - SYN1(NM_006950.3):c.189G>T (p.P63=) - SYN1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*48299G>C likely benign r.(=) p.(=) g.47479155G>C - SYN1(NM_006950.3):c.-28C>G - SYN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*48352A>G likely benign r.(=) p.(=) g.47479208A>G - SYN1(NM_006950.3):c.-81T>C - SYN1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*52944G>A benign r.(=) p.(=) g.47483800G>A - CFP(NM_002621.2):c.1284C>T (p.N428=) - CFP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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