List of variants in gene NF1 reported as pathogenic for bone marrow disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 112

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	rs137854550	0.00002
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)	rs778405030	0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)	rs137854557	0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)	rs267606600	0.00001
NM_001042492.3(NF1):c.3395G>A (p.Arg1132His)	rs778920556	0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)	rs137854556	0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)	rs797045139	0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	rs397514641	0.00001
NM_001042492.3(NF1):c.6704+1G>T	rs1060500376	0.00001
NF1, IVS34, G-A, +18
NM_001042492.3(NF1):c.1020dup (p.Val341fs)	rs1555610905
NM_001042492.3(NF1):c.1062+1G>A	rs1597681200
NM_001042492.3(NF1):c.1120del (p.Asp374fs)
NM_001042492.3(NF1):c.1185+1G>A	rs864622161
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)	rs764079291
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)	rs878853865
NM_001042492.3(NF1):c.1555del (p.Gln519fs)	rs2066874267
NM_001042492.3(NF1):c.1642-8A>G	rs267606602
NM_001042492.3(NF1):c.1721+3A>G	rs1057518904
NM_001042492.3(NF1):c.1729del (p.Met577fs)
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)	rs786202782
NM_001042492.3(NF1):c.1845+1G>A	rs1567845945
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter)	rs1555613543
NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter)	rs753245823
NM_001042492.3(NF1):c.2033del (p.Pro678fs)	rs587781807
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)	rs587781807
NM_001042492.3(NF1):c.2252-2A>C	rs1131691105
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter)	rs1567847905
NM_001042492.3(NF1):c.2410-12T>G	rs876657932
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	rs886041347
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	rs199474747
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu)	rs199474748
NM_001042492.3(NF1):c.2709G>A (p.Val903=)	rs771820789
NM_001042492.3(NF1):c.2851-6_2851-3del	rs1597716256
NM_001042492.3(NF1):c.289-2A>G	rs2143670119
NM_001042492.3(NF1):c.2970_2971del (p.Met991fs)	rs1597716432
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	rs267606606
NM_001042492.3(NF1):c.2991-1G>A	rs1060500273
NM_001042492.3(NF1):c.2991-1G>C	rs1060500273
NM_001042492.3(NF1):c.3113+1G>T	rs267606599
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)	rs1187097568
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)	rs1321848637
NM_001042492.3(NF1):c.3628G>T (p.Glu1210Ter)	rs2151435633
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)	rs137854562
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter)	rs2067188361
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)	rs199474742
NM_001042492.3(NF1):c.3870+1G>T	rs1131691075
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)	rs376576925
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)	rs137854560
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)	rs1131691072
NM_001042492.3(NF1):c.4331A>G (p.Lys1444Arg)	rs199474781
NM_001042492.3(NF1):c.4332+1G>A	rs1555618572
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg)	rs786204157
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)	rs267606607
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter)	rs1567862991
NM_001042492.3(NF1):c.4578-1G>A	rs1555618999
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter)	rs137854555
NM_001042492.3(NF1):c.479+5G>A	rs1567818033
NM_001042492.3(NF1):c.4835+1G>T	rs1085307819
NM_001042492.3(NF1):c.4836-2A>G
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter)	rs2151538007
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)	rs1597829906
NM_001042492.3(NF1):c.5167C>T (p.Gln1723Ter)	rs766727694
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)	rs1131691103
NM_001042492.3(NF1):c.5368G>T (p.Glu1790Ter)	rs1597831990
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter)	rs753529924
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)	rs771529172
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter)	rs786202177
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)	rs786202112
NM_001042492.3(NF1):c.5629_5630del (p.Leu1877fs)	rs2069448326
NM_001042492.3(NF1):c.5657T>G (p.Leu1886Ter)
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter)	rs786203896
NM_001042492.3(NF1):c.5812+2T>G	rs1555533887
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)	rs137854552
NM_001042492.3(NF1):c.5907_5910del (p.Arg1970fs)
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)	rs876660696
NM_001042492.3(NF1):c.6006+1G>A	rs1555534433
NM_001042492.3(NF1):c.6007-5A>G	rs267606604
NM_001042492.3(NF1):c.654+1G>T	rs1060500245
NM_001042492.3(NF1):c.6642+18A>G	rs1555534893
NM_001042492.3(NF1):c.6642+2T>C	rs2069709336
NM_001042492.3(NF1):c.6705-1G>C	rs1060500356
NM_001042492.3(NF1):c.6819+2T>C	rs1135402894
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)	rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)	rs772295894
NM_001042492.3(NF1):c.688G>T (p.Glu230Ter)	rs2066138676
NM_001042492.3(NF1):c.6897del (p.Lys2300fs)
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)	rs1057518807
NM_001042492.3(NF1):c.6921+1G>T	rs1060500355
NM_001042492.3(NF1):c.6922-1G>A
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter)	rs1131691073
NM_001042492.3(NF1):c.7018C>T (p.Gln2340Ter)	rs2069793099
NM_001042492.3(NF1):c.7145del (p.Phe2382fs)	rs2151565168
NM_001042492.3(NF1):c.7158dup (p.Asn2387Ter)	rs1597851420
NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter)	rs2070073649
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs)	rs1597858459
NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs)	rs1597858594
NM_001042492.3(NF1):c.731-1G>C	rs1555608928
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs)	rs1064794278
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)	rs786202457
NM_001042492.3(NF1):c.750dup (p.Asp251Ter)
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	rs866445127
NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly)	rs1597866846
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	rs786201367
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter)	rs1060500363
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs)	rs1060500387
NM_001042492.3(NF1):c.8135G>A (p.Trp2712Ter)
NM_001042492.3(NF1):c.889-2A>G	rs878853922
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)	rs786203950
NM_001042492.3(NF1):c.952_953del (p.Glu318fs)	rs2066507116
NM_001042492.3(NF1):c.952del (p.Glu318fs)	rs1555610881
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer)	rs1555610893

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