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 per condition Variants with at least 2 submissions on the same condition 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 conflict
366 45 0 20 14 0 8 38

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 11 5 0 0
likely pathogenic 11 0 4 0 0
uncertain significance 5 4 0 10 5
likely benign 0 0 10 0 9
benign 0 0 5 9 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540
NM_003119.4(SPG7):c.120G>A (p.Gly40=) rs187330648
NM_003119.4(SPG7):c.1324+10C>T rs202070075
NM_003119.4(SPG7):c.1325-6C>T rs371986686
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln) rs756535079
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954
NM_003119.4(SPG7):c.1586C>T (p.Ala529Val) rs748600162
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1780-16_1780-14del rs863224213
NM_003119.4(SPG7):c.1830C>T (p.Leu610=) rs746099594
NM_003119.4(SPG7):c.184-4T>C rs533778042
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.4(SPG7):c.1937-16C>G rs74590011
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042
NM_003119.4(SPG7):c.199C>T (p.Leu67=) rs148315471
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val) rs754203248
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413
NM_003119.4(SPG7):c.2271del (p.Met757fs) rs1217391623
NM_003119.4(SPG7):c.2280G>A (p.Pro760=) rs11559075
NM_003119.4(SPG7):c.2295C>T (p.Asp765=) rs61747712
NM_003119.4(SPG7):c.33C>T (p.Leu11=) rs1319347094
NM_003119.4(SPG7):c.376+1G>T rs746053679
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr) rs535030441
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr) rs114255772
NM_003119.4(SPG7):c.861+2dup

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