Variants in gene AMT with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status:		Submission 2 (likely 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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000481.4(AMT):c.212A>C (p.His71Pro)	rs1053797603	0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)	rs779483959	0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)	rs866625610	0.00001
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del)	rs768940499
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)	rs1167886830
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)	rs753221440
NM_000481.4(AMT):c.797T>C (p.Leu266Pro)	rs2049051428
NM_000481.4(AMT):c.970_972del (p.Met324del)	rs386833691

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.