Variants in gene PNPLA6 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status:		Submission 2 (benign) 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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)	rs145191932	0.00466
NM_001166114.2(PNPLA6):c.4073C>T (p.Pro1358Leu)	rs116012798	0.00451
NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=)	rs34030828	0.00408
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)	rs145988230	0.00160
NM_001166114.2(PNPLA6):c.315+13C>T	rs200676307	0.00094
NM_001166114.2(PNPLA6):c.3914-11C>T	rs371325894	0.00058
NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=)	rs200310048	0.00036
NM_001166114.2(PNPLA6):c.4024-13C>T	rs78093267	0.00020
NM_001166114.2(PNPLA6):c.714+6T>G	rs368637145	0.00018
NM_001166114.2(PNPLA6):c.2922C>A (p.Gly974=)	rs767028461	0.00015
NM_001166114.2(PNPLA6):c.1680C>T (p.Asp560=)	rs761103593	0.00011
NM_001166114.2(PNPLA6):c.3549T>C (p.Val1183=)	rs35770729	0.00006
NM_001166114.2(PNPLA6):c.232+14G>A	rs199727584	0.00003
NM_001166114.2(PNPLA6):c.3492G>C (p.Leu1164=)	rs577065342

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.