Variants in gene BLM with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status:		Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 80

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	rs200389141	0.00017
NM_000057.4(BLM):c.3558+1G>T	rs148969222	0.00006
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)	rs587779884	0.00004
NM_000057.4(BLM):c.98+1G>C	rs750293380	0.00003
NM_000057.4(BLM):c.3028del (p.Asp1010fs)	rs780379121	0.00002
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)	rs770311534	0.00002
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)	rs1057516964	0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)	rs754203833	0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs)	rs772785079	0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)	rs786204471	0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs)	rs367543019	0.00001
NM_000057.4(BLM):c.3020-258A>G	rs1301751251	0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)	rs1057517154	0.00001
NM_000057.4(BLM):c.3875-2A>G	rs150421256	0.00001
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)	rs1057517359
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)	rs1057517030
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)	rs1567040469
NM_000057.4(BLM):c.1316del (p.Met439fs)	rs1555419829
NM_000057.4(BLM):c.1399dup (p.Asp467fs)	rs1555419862
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)	rs1555419873
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)	rs746244182
NM_000057.4(BLM):c.1487del (p.Leu496fs)	rs2151158316
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)	rs2151158332
NM_000057.4(BLM):c.1544dup (p.Asn515fs)	rs367543043
NM_000057.4(BLM):c.1549dup (p.Ser517fs)	rs1555419902
NM_000057.4(BLM):c.1622del (p.Asn541fs)
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)	rs1356090839
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs)	rs1057516361
NM_000057.4(BLM):c.1752del (p.Gln585fs)	rs1555419961
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)	rs1057516956
NM_000057.4(BLM):c.213_214del (p.Ser72fs)	rs960430492
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2193+1G>A	rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del	rs1060500652
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)	rs113993962
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)	rs1555420602
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)	rs1555420842
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)	rs1555420844
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)	rs1567045235
NM_000057.4(BLM):c.2406+2T>G	rs367543016
NM_000057.4(BLM):c.2407dup (p.Trp803fs)	rs367543012
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)	rs1412341951
NM_000057.4(BLM):c.2580_2581del (p.His860fs)	rs864622347
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)	rs1060503989
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)	rs1896712163
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)	rs1309932713
NM_000057.4(BLM):c.298_299del (p.Gln100fs)	rs745807085
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs)	rs1555423119
NM_000057.4(BLM):c.320dup (p.Leu107fs)	rs781221411
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)	rs1555423753
NM_000057.4(BLM):c.3305_3306del (p.His1102fs)	rs1057516253
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)	rs367543033
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter)	rs1596267627
NM_000057.4(BLM):c.3499del (p.Ala1167fs)	rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs)	rs1555424311
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs)	rs1555424372
NM_000057.4(BLM):c.357_358del (p.Cys120fs)	rs748186908
NM_000057.4(BLM):c.3589del (p.Ser1197fs)	rs1555424376
NM_000057.4(BLM):c.3638del (p.Glu1213fs)	rs1057516547
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)	rs1897236255
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs)	rs1234064430
NM_000057.4(BLM):c.3753del (p.Glu1251fs)	rs1275708646
NM_000057.4(BLM):c.3845del (p.Leu1282fs)	rs1897350204
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)	rs367543031
NM_000057.4(BLM):c.3890del (p.Pro1297fs)	rs1555425062
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)	rs1555418352
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)	rs367543026
NM_000057.4(BLM):c.608_609del (p.Thr203fs)	rs1170049553
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
NM_000057.4(BLM):c.709del (p.Cys237fs)	rs1217879599
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
NM_000057.4(BLM):c.772_773del (p.Leu258fs)	rs367543013
NM_000057.4(BLM):c.800-2A>G	rs1895690125
NM_000057.4(BLM):c.855del (p.Val286fs)	rs2151149598
NM_000057.4(BLM):c.98+1G>A	rs750293380
NM_000057.4(BLM):c.98+1G>T	rs750293380
NM_000057.4(BLM):c.99-8_112del	rs2151146678
NM_000057.4(BLM):c.991_995del (p.Lys331fs)	rs786204524

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.