List of variants reported as likely pathogenic for bone marrow disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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

Total variants: 68

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HGVS	dbSNP	gnomAD frequency
NM_000136.3(FANCC):c.521+1G>A	rs145394391	0.00004
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)	rs149851163	0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)	rs371897078	0.00003
NM_001018115.3(FANCD2):c.2605+1G>A	rs142365855	0.00003
NM_000135.4(FANCA):c.1777-1G>C	rs755104393	0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)	rs730881709	0.00002
NM_000136.3(FANCC):c.843+1G>A	rs587779909	0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)	rs745930696	0.00002
NM_000135.4(FANCA):c.991del (p.Ser331fs)	rs746236214	0.00001
NM_000136.3(FANCC):c.996+1G>T	rs370510954	0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)	rs778289599	0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)	rs1385885533	0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)	rs761291501	0.00001
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)	rs1265030199	0.00001
NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
NC_000003.11:g.(?_10068070)_(10070406_10074515)del
NC_000003.11:g.(?_10068070)_(10094182_10101977)del
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
NC_000016.9:g.(89831475_89833548)_(89883066_?)del
NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)	rs878853660
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)	rs1060501879
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)	rs2039844868
NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser)	rs1057521855
NM_000135.4(FANCA):c.1567-20A>G	rs775154397
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)	rs2143367693
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly)	rs2038474528
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)	rs1555536390
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)	rs2151712879
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter)	rs984285795
NM_000135.4(FANCA):c.427-3C>G	rs2040847223
NM_000136.3(FANCC):c.1155-1G>C	rs1554829575
NM_000136.3(FANCC):c.1533+1G>T	rs753885687
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)	rs794726667
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)	rs730881731
NM_000136.3(FANCC):c.377_378del (p.Arg126fs)	rs1564720637
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)	rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)	rs730881708
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
NM_000136.3(FANCC):c.996+1G>A	rs370510954
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
NM_001018115.3(FANCD2):c.1827+1G>C	rs761074497
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)	rs2125032674
NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)
NM_001018115.3(FANCD2):c.696-121C>G	rs2086862509
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)	rs1223055462
NM_001113378.2(FANCI):c.1512+1G>A	rs2151551135
NM_001113378.2(FANCI):c.295del (p.His99fs)	rs759398314
NM_001113378.2(FANCI):c.3187-2A>G
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)	rs758597713
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)	rs770318990
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter)	rs760412752
NM_004629.2(FANCG):c.1465_1467delinsAA (p.Glu489fs)
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)	rs1490932431
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.430del (p.Ser144fs)	rs869320685
NM_021922.3(FANCE):c.2T>C (p.Met1Thr)	rs1462766132
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del)	rs755938406
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)	rs753272712
NM_032043.3(BRIP1):c.1473+1G>T	rs748274524
NM_032043.3(BRIP1):c.3223_3226del (p.Ser1075fs)
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)	rs778664039
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)	rs45459799

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