List of variants reported as uncertain significance for anterior horn disorder by Institute of Human Genetics, University of Leipzig Medical Center

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000052.7(ATP7A):c.4136C>T (p.Pro1379Leu)	rs1557238990	0.00001
NM_001540.5(HSPB1):c.253G>T (p.Val85Phe)	rs773758650	0.00001
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly)	rs770694223	0.00001
NM_001003800.2(BICD2):c.2132T>C (p.Leu711Pro)
NM_001145809.2(MYH14):c.3457G>A (p.Ala1153Thr)	rs2123394094
NM_003900.5(SQSTM1):c.-27C>T	rs781131232
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del)	rs796052214
NM_013254.4(TBK1):c.1739A>G (p.Glu580Gly)	rs2040925135
NM_016955.4(SEPSECS):c.238G>A (p.Ala80Thr)
NM_016955.4(SEPSECS):c.437T>C (p.Met146Thr)
NM_021076.4(NEFH):c.1376_1379del (p.Glu459fs)	rs1404118739
NM_021815.5(SLC5A7):c.178+1G>C	rs1677325509
NM_205836.3(FBXO38):c.1313A>G (p.His438Arg)	rs2113584557
NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys)	rs931085449

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.