ClinVar Miner

List of variants reported as likely pathogenic for Hereditary spastic paraplegia 15

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_015346.4(ZFYVE26):c.1017+1G>T rs1224762841
NM_015346.4(ZFYVE26):c.1436-1G>A rs545219731
NM_015346.4(ZFYVE26):c.2182C>T (p.Arg728Ter) rs981804211
NM_015346.4(ZFYVE26):c.2196_2198del (p.Val733del) rs1555399289
NM_015346.4(ZFYVE26):c.2222del (p.Lys741fs) rs1555399288
NM_015346.4(ZFYVE26):c.2248+2T>C rs1555399278
NM_015346.4(ZFYVE26):c.2333-1G>C rs746606852
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter) rs941230062
NM_015346.4(ZFYVE26):c.2401+1G>T rs1555398778
NM_015346.4(ZFYVE26):c.2450del (p.Leu817fs) rs768176054
NM_015346.4(ZFYVE26):c.2554-1G>C rs760559263
NM_015346.4(ZFYVE26):c.2554-2A>G rs1186788102
NM_015346.4(ZFYVE26):c.2615_2617delinsTGAA (p.Arg872fs)
NM_015346.4(ZFYVE26):c.2625del (p.Glu875_Val876insTer) rs1555398241
NM_015346.4(ZFYVE26):c.2639T>C (p.Leu880Pro)
NM_015346.4(ZFYVE26):c.274-2A>G rs769329153
NM_015346.4(ZFYVE26):c.3020-1G>A rs1555397638
NM_015346.4(ZFYVE26):c.3020-2A>G rs1470672632
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310
NM_015346.4(ZFYVE26):c.3139+2T>G rs767164213
NM_015346.4(ZFYVE26):c.3524-2A>G rs1555397331
NM_015346.4(ZFYVE26):c.3626+1G>C rs1555397310
NM_015346.4(ZFYVE26):c.363+1G>A rs935301743
NM_015346.4(ZFYVE26):c.363+2T>G rs760001730
NM_015346.4(ZFYVE26):c.4153C>T (p.Gln1385Ter)
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter) rs118204049
NM_015346.4(ZFYVE26):c.4798-1G>T rs1555396303
NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter) rs558285072
NM_015346.4(ZFYVE26):c.5215C>T (p.Arg1739Ter) rs1214483973
NM_015346.4(ZFYVE26):c.5321-2A>G rs1555395560
NM_015346.4(ZFYVE26):c.5484+1G>T rs1555395524
NM_015346.4(ZFYVE26):c.5484+1del rs1555395525
NM_015346.4(ZFYVE26):c.5485-2A>G rs1555395288
NM_015346.4(ZFYVE26):c.5715del (p.Asp1906fs) rs868672014
NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter) rs200832994
NM_015346.4(ZFYVE26):c.6006dup (p.Asp2003Ter) rs1555394824
NM_015346.4(ZFYVE26):c.6278dup (p.Phe2094fs)
NM_015346.4(ZFYVE26):c.6987-1G>A rs1555393393
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter) rs370837940
NM_015346.4(ZFYVE26):c.7128+2T>A rs1049504575
NM_015346.4(ZFYVE26):c.7188+1G>A rs1555393338
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter) rs869312914
NM_015346.4(ZFYVE26):c.7257del (p.Lys2418_Tyr2419insTer) rs771393692
NM_015346.4(ZFYVE26):c.7371+1G>A rs1555393181
NM_015346.4(ZFYVE26):c.7416+2T>C rs1555393005

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.