List of variants reported as likely benign for autoimmune lymphoproliferative syndrome type 1 by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 141

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HGVS	dbSNP	gnomAD frequency
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)	rs56006128	0.00138
NM_000639.3(FASLG):c.426G>C (p.Glu142Asp)	rs138441486	0.00088
NM_000639.3(FASLG):c.108G>A (p.Val36=)	rs140595317	0.00054
NM_000639.3(FASLG):c.395-15C>G	rs370579312	0.00038
NM_000639.3(FASLG):c.280T>G (p.Leu94Val)	rs56302117	0.00033
NM_000639.3(FASLG):c.796C>T (p.Leu266=)	rs35178418	0.00029
NM_000043.6(FAS):c.958A>G (p.Ser320Gly)	rs146209060	0.00028
NM_000639.3(FASLG):c.828C>T (p.Phe276=)	rs144105303	0.00026
NM_000639.3(FASLG):c.394+14C>T	rs371078346	0.00009
NM_000639.3(FASLG):c.153G>A (p.Pro51=)	rs147380045	0.00008
NM_000639.3(FASLG):c.204G>A (p.Leu68=)	rs951438902	0.00008
NM_000043.6(FAS):c.652-7T>C	rs370323285	0.00005
NM_000043.6(FAS):c.444-15T>C	rs372996634	0.00004
NM_000043.6(FAS):c.505+17G>A	rs767973417	0.00004
NM_000043.6(FAS):c.216C>T (p.Asp72=)	rs766429180	0.00003
NM_000043.6(FAS):c.630T>C (p.His210=)	rs751973753	0.00003
NM_000043.6(FAS):c.651+8T>C	rs771146577	0.00003
NM_000043.6(FAS):c.945C>T (p.Leu315=)	rs1188345187	0.00003
NM_000639.3(FASLG):c.270T>C (p.Val90=)	rs765440709	0.00003
NM_000639.3(FASLG):c.624C>T (p.Ser208=)	rs761180254	0.00003
NM_000043.6(FAS):c.519C>T (p.Asn173=)	rs1382455258	0.00002
NM_000043.6(FAS):c.57G>A (p.Ser19=)	rs757754872	0.00002
NM_000043.6(FAS):c.879A>G (p.Thr293=)	rs1413117342	0.00002
NM_000043.6(FAS):c.948G>A (p.Lys316=)	rs114502430	0.00002
NM_000639.3(FASLG):c.144A>G (p.Pro48=)	rs55664927	0.00002
NM_000043.6(FAS):c.246C>T (p.Cys82=)	rs777751533	0.00001
NM_000043.6(FAS):c.270G>A (p.Glu90=)	rs745375995	0.00001
NM_000043.6(FAS):c.354C>T (p.Asn118=)	rs1266114057	0.00001
NM_000043.6(FAS):c.444-19C>T	rs764387025	0.00001
NM_000043.6(FAS):c.506-14G>A	rs766198534	0.00001
NM_000043.6(FAS):c.78A>G (p.Gln26=)	rs746017530	0.00001
NM_000043.6(FAS):c.798T>C (p.Asn266=)	rs758630212	0.00001
NM_000043.6(FAS):c.87C>T (p.Asp29=)	rs1323745013	0.00001
NM_000639.3(FASLG):c.180G>A (p.Pro60=)	rs753980291	0.00001
NM_000639.3(FASLG):c.243G>T (p.Leu81=)	rs760651511	0.00001
NM_000639.3(FASLG):c.348+12G>A	rs776445206	0.00001
NM_000639.3(FASLG):c.395-9A>G	rs373975939	0.00001
NM_000639.3(FASLG):c.451+8T>A	rs372021169	0.00001
NM_000639.3(FASLG):c.452-12G>A	rs759351686	0.00001
NM_000639.3(FASLG):c.561G>A (p.Gly187=)	rs1267175575	0.00001
NM_000639.3(FASLG):c.579C>T (p.Ser193=)	rs374974805	0.00001
NM_000639.3(FASLG):c.678G>A (p.Glu226=)	rs752708760	0.00001
NM_000043.6(FAS):c.102A>G (p.Gly34=)	rs1554849878
NM_000043.6(FAS):c.140A>G (p.Gln47Arg)
NM_000043.6(FAS):c.144C>T (p.Asn48=)
NM_000043.6(FAS):c.145T>C (p.Leu49=)
NM_000043.6(FAS):c.162T>C (p.His54=)
NM_000043.6(FAS):c.174C>T (p.Phe58=)
NM_000043.6(FAS):c.196+17A>G
NM_000043.6(FAS):c.197-11T>A	rs187793393
NM_000043.6(FAS):c.197-11T>C	rs187793393
NM_000043.6(FAS):c.197-18C>G	rs765687911
NM_000043.6(FAS):c.197-8T>C	rs2133501996
NM_000043.6(FAS):c.249G>A (p.Val83=)
NM_000043.6(FAS):c.264G>A (p.Gly88=)	rs2133503215
NM_000043.6(FAS):c.27T>C (p.Pro9=)
NM_000043.6(FAS):c.30+14_30+18dup
NM_000043.6(FAS):c.30+19G>T	rs202165529
NM_000043.6(FAS):c.30+20G>A
NM_000043.6(FAS):c.31-13T>A
NM_000043.6(FAS):c.324T>C (p.Asp108=)	rs1848316008
NM_000043.6(FAS):c.334+11T>C
NM_000043.6(FAS):c.335-10G>T	rs377251325
NM_000043.6(FAS):c.335-13A>T
NM_000043.6(FAS):c.335-15A>C
NM_000043.6(FAS):c.33T>C (p.Val11=)
NM_000043.6(FAS):c.345G>A (p.Val115=)	rs2133513698
NM_000043.6(FAS):c.396C>T (p.Asn132=)
NM_000043.6(FAS):c.39G>A (p.Thr13=)	rs377196867
NM_000043.6(FAS):c.412A>G (p.Thr138Ala)
NM_000043.6(FAS):c.430G>A (p.Asp144Asn)	rs753670814
NM_000043.6(FAS):c.432C>T (p.Asp144=)	rs574338716
NM_000043.6(FAS):c.443+15T>G
NM_000043.6(FAS):c.443+20T>C
NM_000043.6(FAS):c.444-12T>C
NM_000043.6(FAS):c.444-9T>C
NM_000043.6(FAS):c.477C>G (p.Leu159=)
NM_000043.6(FAS):c.480C>T (p.Thr160=)	rs1589482110
NM_000043.6(FAS):c.489C>A (p.Thr163=)
NM_000043.6(FAS):c.4C>T (p.Leu2=)
NM_000043.6(FAS):c.505+14T>C
NM_000043.6(FAS):c.505+16C>A
NM_000043.6(FAS):c.558A>G (p.Leu186=)
NM_000043.6(FAS):c.588G>A (p.Gln196=)
NM_000043.6(FAS):c.642T>G (p.Thr214=)
NM_000043.6(FAS):c.652-9G>T	rs1848622815
NM_000043.6(FAS):c.66T>C (p.Ser22=)
NM_000043.6(FAS):c.676+13T>A
NM_000043.6(FAS):c.677-16A>G
NM_000043.6(FAS):c.677-9A>G
NM_000043.6(FAS):c.684C>T (p.Asp228=)	rs1848665121
NM_000043.6(FAS):c.711T>C (p.Ala237=)
NM_000043.6(FAS):c.753G>A (p.Lys251=)
NM_000043.6(FAS):c.768A>G (p.Glu256=)
NM_000043.6(FAS):c.801C>T (p.Val267=)
NM_000043.6(FAS):c.867A>G (p.Glu289=)	rs377337130
NM_000043.6(FAS):c.870G>A (p.Ala290=)
NM_000043.6(FAS):c.909T>C (p.Leu303=)	rs967060461
NM_000043.6(FAS):c.915T>G (p.Thr305=)
NM_000043.6(FAS):c.978C>T (p.Asn326=)
NM_000043.6(FAS):c.993C>A (p.Ile331=)	rs1237891648
NM_000639.3(FASLG):c.135A>G (p.Pro45=)
NM_000639.3(FASLG):c.174G>C (p.Pro58=)
NM_000639.3(FASLG):c.207A>G (p.Pro69=)	rs769398033
NM_000639.3(FASLG):c.210C>T (p.Pro70=)
NM_000639.3(FASLG):c.213G>A (p.Leu71=)
NM_000639.3(FASLG):c.225G>A (p.Gly75=)	rs761614632
NM_000639.3(FASLG):c.241C>T (p.Leu81=)
NM_000639.3(FASLG):c.279C>T (p.Ala93=)
NM_000639.3(FASLG):c.295C>T (p.Leu99=)
NM_000639.3(FASLG):c.312C>T (p.Leu104=)
NM_000639.3(FASLG):c.321A>G (p.Leu107=)
NM_000639.3(FASLG):c.348+11C>T
NM_000639.3(FASLG):c.348+14C>T
NM_000639.3(FASLG):c.348+9G>A
NM_000639.3(FASLG):c.349-13T>C
NM_000639.3(FASLG):c.349-16C>T
NM_000639.3(FASLG):c.351T>G (p.Ser117=)
NM_000639.3(FASLG):c.394+16C>A
NM_000639.3(FASLG):c.394+17A>C
NM_000639.3(FASLG):c.395-13C>G
NM_000639.3(FASLG):c.405T>C (p.Ser135=)
NM_000639.3(FASLG):c.411C>A (p.Pro137=)
NM_000639.3(FASLG):c.451+11G>A
NM_000639.3(FASLG):c.451+12G>A
NM_000639.3(FASLG):c.452-11A>T
NM_000639.3(FASLG):c.453C>A (p.Gly151=)
NM_000639.3(FASLG):c.498T>C (p.Tyr166=)
NM_000639.3(FASLG):c.522G>A (p.Val174=)
NM_000639.3(FASLG):c.537T>C (p.Gly179=)	rs2101810574
NM_000639.3(FASLG):c.540C>T (p.Gly180=)
NM_000639.3(FASLG):c.552T>C (p.Asn184=)
NM_000639.3(FASLG):c.615G>T (p.Leu205=)	rs2101810642
NM_000639.3(FASLG):c.666G>A (p.Leu222=)	rs2101810683
NM_000639.3(FASLG):c.702T>C (p.Thr234=)
NM_000639.3(FASLG):c.708G>A (p.Gly236=)
NM_000639.3(FASLG):c.720C>T (p.Ala240=)
NM_000639.3(FASLG):c.72C>A (p.Ala24=)	rs182516315
NM_000639.3(FASLG):c.780C>T (p.Asn260=)
NM_000639.3(FASLG):c.822G>A (p.Thr274=)
NM_000639.3(FASLG):c.822G>T (p.Thr274=)	rs199500307

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