ClinVar Miner

Variants in gene SPG7 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
181 24 0 22 16 0 8 39

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 12 6 0 0
likely pathogenic 12 0 5 0 0
uncertain significance 6 5 0 8 12
likely benign 0 0 8 0 10
benign 0 0 12 10 0

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.2(SPG7):c.618+11_618+68del58 rs1555611542
NM_003119.3(SPG7):c.1032C>T (p.Gly344=) rs116319889
NM_003119.3(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.3(SPG7):c.1083G>A (p.Ala361=) rs114135540
NM_003119.3(SPG7):c.1324+10C>T rs202070075
NM_003119.3(SPG7):c.1359G>A (p.Ala453=) rs115448299
NM_003119.3(SPG7):c.1447C>T (p.Gln483Ter) rs562890289
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.3(SPG7):c.1457G>A (p.Arg486Gln) rs111475461
NM_003119.3(SPG7):c.1507A>G (p.Thr503Ala) rs2292954
NM_003119.3(SPG7):c.1586C>T (p.Ala529Val) rs748600162
NM_003119.3(SPG7):c.1663+13C>T rs80324518
NM_003119.3(SPG7):c.1675A>T (p.Lys559Ter) rs372981030
NM_003119.3(SPG7):c.1715C>T (p.Ala572Val) rs72547551
NM_003119.3(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.3(SPG7):c.1770C>T (p.Ala590=) rs60488729
NM_003119.3(SPG7):c.1780-16_1780-14del rs863224213
NM_003119.3(SPG7):c.1830C>T (p.Leu610=) rs746099594
NM_003119.3(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.3(SPG7):c.1936+12C>T rs112379588
NM_003119.3(SPG7):c.1937-16C>G rs74590011
NM_003119.3(SPG7):c.199C>T (p.Leu67=) rs148315471
NM_003119.3(SPG7):c.2037G>A (p.Ala679=) rs79756036
NM_003119.3(SPG7):c.2063G>A (p.Arg688Gln) rs12960
NM_003119.3(SPG7):c.2084T>C (p.Leu695Pro) rs864622094
NM_003119.3(SPG7):c.2096dupT (p.Met699Ilefs) rs747503698
NM_003119.3(SPG7):c.2188A>G (p.Asn730Asp) rs35749032
NM_003119.3(SPG7):c.2228T>C (p.Ile743Thr) rs752623413
NM_003119.3(SPG7):c.2280G>A (p.Pro760=) rs11559075
NM_003119.3(SPG7):c.2295C>T (p.Asp765=) rs61747712
NM_003119.3(SPG7):c.233T>A (p.Leu78Ter) rs121918358
NM_003119.3(SPG7):c.376+1G>T rs746053679
NM_003119.3(SPG7):c.376G>C (p.Glu126Gln) rs912983346
NM_003119.3(SPG7):c.4G>A (p.Ala2Thr) rs535030441
NM_003119.3(SPG7):c.637C>T (p.Arg213Ter) rs774774648
NM_003119.3(SPG7):c.656T>C (p.Ile219Thr) rs114255772
NM_003119.3(SPG7):c.976_987+3delGATTATCTGAAGGTG rs878854606
NM_003119.3(SPG7):c.9G>T (p.Val3=) rs553241838

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.