List of variants reported as uncertain significance for Perry syndrome by Illumina Laboratory Services, Illumina

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: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004082.5(DCTN1):c.*251T>G	rs756362040	0.00011
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)	rs121909344	0.00010
NM_004082.5(DCTN1):c.2559C>T (p.Ala853=)	rs770872113	0.00005
NM_004082.5(DCTN1):c.-162G>A	rs1292504283	0.00004
NM_004082.5(DCTN1):c.824G>A (p.Arg275His)	rs375266113	0.00004
NM_004082.5(DCTN1):c.2753C>A (p.Pro918His)	rs771075973	0.00002
NM_004082.5(DCTN1):c.2297G>A (p.Arg766Gln)	rs200611961	0.00001
NM_004082.5(DCTN1):c.3185G>A (p.Gly1062Asp)	rs764918482	0.00001
NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val)	rs759276455	0.00001
NM_004082.5(DCTN1):c.3197-13A>G	rs374049568	0.00001
NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=)	rs769145486	0.00001
NM_004082.5(DCTN1):c.3621C>T (p.Leu1207=)	rs1032786897	0.00001
NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=)	rs886056328	0.00001
NM_004082.5(DCTN1):c.59C>T (p.Ala20Val)	rs773420384	0.00001
NM_001190836.2(DCTN1):c.-18-2073C>T	rs566961027
NM_004082.5(DCTN1):c.*111C>T	rs1673974256
NM_004082.5(DCTN1):c.-167del	rs886056335
NM_004082.5(DCTN1):c.-262A>G	rs886056336
NM_004082.5(DCTN1):c.-263C>G	rs1013222986
NM_004082.5(DCTN1):c.-72C>G	rs886056334
NM_004082.5(DCTN1):c.1065A>T (p.Ala355=)	rs886056333
NM_004082.5(DCTN1):c.1140T>G (p.Leu380=)	rs886056332
NM_004082.5(DCTN1):c.1393-7G>T	rs886056330
NM_004082.5(DCTN1):c.1393-8T>C	rs886056331
NM_004082.5(DCTN1):c.2782G>A (p.Ala928Thr)	rs1674377455
NM_004082.5(DCTN1):c.2802G>C (p.Glu934Asp)	rs1674375862
NM_004082.5(DCTN1):c.2973C>G (p.Ile991Met)	rs140969689
NM_004082.5(DCTN1):c.345A>G (p.Lys115=)	rs1675303256
NM_004082.5(DCTN1):c.3547G>T (p.Ala1183Ser)	rs886056329
NM_004082.5(DCTN1):c.3652A>G (p.Thr1218Ala)	rs886070472
NM_004082.5(DCTN1):c.622C>T (p.Pro208Ser)	rs770302677

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.