List of variants reported as likely pathogenic for spinal muscular atrophy by Labcorp Genetics (formerly Invitae), Labcorp

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

Total variants: 93

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020631.6(PLEKHG5):c.440-2A>G	rs144750655	0.00026
NM_006736.6(DNAJB2):c.230-2A>G	rs369661561	0.00012
NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln)	rs140376902	0.00004
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)	rs374211312	0.00004
NM_003384.3(VRK1):c.216+1G>C	rs774518440	0.00002
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr)	rs1193634362	0.00001
NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His)	rs769046350	0.00001
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg)	rs1057518943	0.00001
NM_003384.3(VRK1):c.889+1G>T	rs1482696609	0.00001
NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys)	rs766653950	0.00001
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)	rs797045567	0.00001
NC_000011.9:g.(?_68682281)_(68682501_?)del
NC_000011.9:g.(?_68685184)_(68685371_?)dup
NC_000014.8:g.(?_97319190)_(97325994_?)del
NC_000023.10:g.(?_77289083)_(77301089_?)dup
NM_000052.7(ATP7A):c.1544-1G>A	rs797045331
NM_000052.7(ATP7A):c.1544-2A>T	rs2077751404
NM_000052.7(ATP7A):c.2172+5G>A	rs797045347
NM_000052.7(ATP7A):c.2172+5G>C	rs797045347
NM_000052.7(ATP7A):c.2498+2T>G	rs797045357
NM_000052.7(ATP7A):c.2773_2781+4del
NM_000052.7(ATP7A):c.2781_2781+1delinsTT
NM_000052.7(ATP7A):c.2916+3_2916+6del	rs797045364
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)	rs797045365
NM_000052.7(ATP7A):c.3111+1G>A	rs1557236762
NM_000052.7(ATP7A):c.4005+1G>T	rs797045391
NM_000052.7(ATP7A):c.4005+5G>A
NM_000052.7(ATP7A):c.4006-1G>A	rs1557238665
NM_000052.7(ATP7A):c.610+2T>C
NM_000344.4(SMN1):c.835-18_835-12del
NM_001003800.2(BICD2):c.1633A>G (p.Asn545Asp)	rs1587668769
NM_001003800.2(BICD2):c.1667A>C (p.Tyr556Ser)	rs1587668748
NM_001003800.2(BICD2):c.2042C>T (p.Ser681Leu)	rs1853375829
NM_001003800.2(BICD2):c.2058G>T (p.Lys686Asn)	rs376312313
NM_001003800.2(BICD2):c.2105A>G (p.Gln702Arg)	rs1587668077
NM_001003800.2(BICD2):c.565A>T (p.Ile189Phe)	rs1587671674
NM_001003800.2(BICD2):c.567C>G (p.Ile189Met)	rs2131504104
NM_002180.3(IGHMBP2):c.1060+1G>T	rs1366461184
NM_002180.3(IGHMBP2):c.1235+1G>T
NM_002180.3(IGHMBP2):c.1235+894C>A	rs1202430946
NM_002180.3(IGHMBP2):c.1236-1G>T	rs1124336
NM_002180.3(IGHMBP2):c.1351T>C (p.Trp451Arg)
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)	rs754465226
NM_002180.3(IGHMBP2):c.1632+1G>T
NM_002180.3(IGHMBP2):c.1633-2A>G	rs1566445029
NM_002180.3(IGHMBP2):c.1694A>G (p.Asp565Gly)
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)	rs368775789
NM_002180.3(IGHMBP2):c.1757-1G>A
NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His)	rs1240319744
NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu)
NM_002180.3(IGHMBP2):c.257-2A>G	rs1566424655
NM_002180.3(IGHMBP2):c.449+2T>A
NM_002180.3(IGHMBP2):c.449+2del
NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro)
NM_002180.3(IGHMBP2):c.86+1G>T
NM_002180.3(IGHMBP2):c.905_912+85del
NM_003384.2(VRK1):c.318_889+1945del
NM_003384.3(VRK1):c.1069-2A>G
NM_003384.3(VRK1):c.1094del (p.Ser365fs)	rs2139845854
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs)	rs2139845924
NM_003384.3(VRK1):c.160+1G>T	rs2139749072
NM_003384.3(VRK1):c.161-2A>G
NM_003384.3(VRK1):c.216+1G>A
NM_003384.3(VRK1):c.287-2A>C
NM_003384.3(VRK1):c.374+1G>T
NM_003384.3(VRK1):c.402_890-895del
NM_003384.3(VRK1):c.483+1G>A
NM_003384.3(VRK1):c.576+1G>A
NM_003384.3(VRK1):c.710-1G>A
NM_003384.3(VRK1):c.830+1G>C
NM_003384.3(VRK1):c.889+1G>A	rs1482696609
NM_004082.5(DCTN1):c.279G>C (p.Gln93His)
NM_005866.4(SIGMAR1):c.152-2A>T	rs2132329744
NM_005866.4(SIGMAR1):c.448G>A (p.Glu150Lys)	rs757260058
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs)	rs1554707680
NM_006736.6(DNAJB2):c.353-1G>C
NM_006736.6(DNAJB2):c.353-24_357del
NM_006736.6(DNAJB2):c.445+1G>A
NM_006736.6(DNAJB2):c.446-1G>A	rs2125082935
NM_016042.4(EXOSC3):c.325-1G>T
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)	rs672601332
NM_020631.6(PLEKHG5):c.1131+1G>T
NM_020631.6(PLEKHG5):c.1132-1G>T	rs2148585199
NM_020631.6(PLEKHG5):c.1393-2A>C
NM_020631.6(PLEKHG5):c.1542+1G>C
NM_020631.6(PLEKHG5):c.1543-2A>G
NM_020631.6(PLEKHG5):c.1680+1G>T
NM_020631.6(PLEKHG5):c.1801-2A>G
NM_020631.6(PLEKHG5):c.1933+1del
NM_020631.6(PLEKHG5):c.1934-2A>C
NM_020631.6(PLEKHG5):c.2249+1G>A
NM_020631.6(PLEKHG5):c.2250-2A>C
NM_020631.6(PLEKHG5):c.985-2A>G	rs1553174566

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.