ClinVar Miner

List of variants reported as uncertain significance for Blau syndrome by Invitae

Included ClinVar conditions (4):
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Minimum conflict level:
ClinVar version:
Total variants: 77
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HGVS dbSNP
NM_022162.3(NOD2):c.1019C>G (p.Ala340Gly)
NM_022162.3(NOD2):c.1028T>C (p.Leu343Pro) rs369732140
NM_022162.3(NOD2):c.103C>T (p.Gln35Ter) rs1567380372
NM_022162.3(NOD2):c.1087A>T (p.Ile363Phe) rs104895470
NM_022162.3(NOD2):c.1117C>T (p.Arg373Cys) rs145293873
NM_022162.3(NOD2):c.1151T>A (p.Phe384Tyr) rs777343284
NM_022162.3(NOD2):c.1178G>A (p.Arg393His) rs140918872
NM_022162.3(NOD2):c.1190C>T (p.Pro397Leu) rs150078153
NM_022162.3(NOD2):c.1241A>G (p.Asn414Ser) rs104895429
NM_022162.3(NOD2):c.1271C>A (p.Thr424Asn)
NM_022162.3(NOD2):c.1277G>A (p.Arg426His) rs562225614
NM_022162.3(NOD2):c.1279C>T (p.Pro427Ser) rs760982375
NM_022162.3(NOD2):c.127G>A (p.Glu43Lys) rs200089552
NM_022162.3(NOD2):c.1295C>T (p.Ala432Val)
NM_022162.3(NOD2):c.131T>A (p.Leu44Gln)
NM_022162.3(NOD2):c.1321G>A (p.Glu441Lys) rs104895432
NM_022162.3(NOD2):c.1390G>T (p.Gly464Trp) rs104895492
NM_022162.3(NOD2):c.1402C>A (p.Arg468Ser) rs769988393
NM_022162.3(NOD2):c.140C>T (p.Ser47Leu) rs201586544
NM_022162.3(NOD2):c.1427C>A (p.Thr476Asn) rs1567392113
NM_022162.3(NOD2):c.1494A>C (p.Glu498Asp) rs1361409611
NM_022162.3(NOD2):c.1515del (p.Ser506fs) rs754761524
NM_022162.3(NOD2):c.1515dup (p.Ser506fs) rs754761524
NM_022162.3(NOD2):c.1531A>G (p.Thr511Ala)
NM_022162.3(NOD2):c.1540T>C (p.Tyr514His) rs540122692
NM_022162.3(NOD2):c.1573G>A (p.Ala525Thr) rs1283801598
NM_022162.3(NOD2):c.1628G>A (p.Arg543His) rs772534917
NM_022162.3(NOD2):c.1648C>G (p.Leu550Val) rs104895471
NM_022162.3(NOD2):c.1760G>A (p.Arg587His) rs373185098
NM_022162.3(NOD2):c.1826T>G (p.Phe609Cys)
NM_022162.3(NOD2):c.1834G>T (p.Ala612Ser) rs104895438
NM_022162.3(NOD2):c.1969A>G (p.Ser657Gly) rs150236752
NM_022162.3(NOD2):c.200C>G (p.Ser67Cys)
NM_022162.3(NOD2):c.2038G>A (p.Gly680Arg) rs371339573
NM_022162.3(NOD2):c.2168C>T (p.Pro723Leu)
NM_022162.3(NOD2):c.2180C>T (p.Pro727Leu) rs104895489
NM_022162.3(NOD2):c.2230C>T (p.Arg744Trp)
NM_022162.3(NOD2):c.2242G>A (p.Glu748Lys)
NM_022162.3(NOD2):c.2266C>T (p.Arg756Trp) rs376201089
NM_022162.3(NOD2):c.2267G>A (p.Arg756Gln) rs375713299
NM_022162.3(NOD2):c.2278C>T (p.Arg760Cys)
NM_022162.3(NOD2):c.2279G>A (p.Arg760His) rs763955590
NM_022162.3(NOD2):c.2332G>A (p.Glu778Lys) rs104895443
NM_022162.3(NOD2):c.2419G>A (p.Val807Met) rs748522514
NM_022162.3(NOD2):c.2434C>T (p.Pro812Ser)
NM_022162.3(NOD2):c.2471A>G (p.Asp824Gly)
NM_022162.3(NOD2):c.2494A>G (p.Ile832Val) rs765335094
NM_022162.3(NOD2):c.2546C>T (p.Ala849Val) rs104895486
NM_022162.3(NOD2):c.2578G>A (p.Ala860Thr)
NM_022162.3(NOD2):c.259C>T (p.Arg87Cys) rs374128251
NM_022162.3(NOD2):c.2658G>A (p.Ala886=) rs1417676866
NM_022162.3(NOD2):c.2699C>T (p.Ser900Phe) rs199552944
NM_022162.3(NOD2):c.274G>T (p.Val92Phe)
NM_022162.3(NOD2):c.2774A>G (p.Asp925Gly) rs545734771
NM_022162.3(NOD2):c.2815A>G (p.Ile939Val)
NM_022162.3(NOD2):c.2883-9T>A rs750873269
NM_022162.3(NOD2):c.2888A>G (p.Glu963Gly) rs1555501675
NM_022162.3(NOD2):c.2921C>T (p.Ser974Phe) rs200463498
NM_022162.3(NOD2):c.2923C>G (p.Leu975Val)
NM_022162.3(NOD2):c.2926G>A (p.Ala976Thr) rs148561632
NM_022162.3(NOD2):c.2996G>C (p.Gly999Ala)
NM_022162.3(NOD2):c.2998G>A (p.Ala1000Thr)
NM_022162.3(NOD2):c.2T>C (p.Met1Thr) rs765406921
NM_022162.3(NOD2):c.314C>T (p.Ala105Val) rs202052365
NM_022162.3(NOD2):c.404_405AG[1] (p.His137fs) rs1567381106
NM_022162.3(NOD2):c.413G>A (p.Arg138Gln) rs104895456
NM_022162.3(NOD2):c.476G>A (p.Arg159Gln) rs150996156
NM_022162.3(NOD2):c.484G>A (p.Val162Ile) rs139571975
NM_022162.3(NOD2):c.61G>A (p.Gly21Arg)
NM_022162.3(NOD2):c.625C>T (p.Pro209Ser) rs143080077
NM_022162.3(NOD2):c.698A>C (p.Gln233Pro) rs369098290
NM_022162.3(NOD2):c.703C>T (p.Arg235Cys) rs104895422
NM_022162.3(NOD2):c.712A>T (p.Ser238Cys) rs1001861018
NM_022162.3(NOD2):c.719A>G (p.Tyr240Cys)
NM_022162.3(NOD2):c.746A>G (p.Glu249Gly) rs117836686
NM_022162.3(NOD2):c.7G>C (p.Glu3Gln) rs976567823
NM_022162.3(NOD2):c.82A>G (p.Met28Val)

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