ClinVar Miner

Variants in gene SPG7 with conflicting interpretations

See also:
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:

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
910 148 0 71 32 0 30 119

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 51 11 0 0
likely pathogenic 51 0 24 1 0
uncertain significance 11 24 0 29 4
likely benign 0 1 29 0 20
benign 0 0 4 20 0

All variants with conflicting interpretations #

Total variants: 119
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954 0.12849
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960 0.12801
NM_003119.4(SPG7):c.1664-15C>A rs80292600 0.01888
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032 0.01431
NM_003119.4(SPG7):c.2295C>T (p.Asp765=) rs61747712 0.01110
NM_003119.4(SPG7):c.2280G>A (p.Pro760=) rs11559075 0.01046
NM_003119.4(SPG7):c.1936+12C>T rs112379588 0.00628
NM_003119.4(SPG7):c.1937-16C>G rs74590011 0.00558
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889 0.00450
NM_003119.4(SPG7):c.1653C>T (p.Arg551=) rs56031686 0.00386
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_003119.4(SPG7):c.987+19G>A rs62071462 0.00256
NM_003119.4(SPG7):c.1324+4187C>T rs143254053 0.00185
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00102
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
NM_003119.4(SPG7):c.1324+10C>T rs202070075 0.00074
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr) rs2099104 0.00073
NM_003119.4(SPG7):c.199C>T (p.Leu67=) rs148315471 0.00061
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_003119.4(SPG7):c.1324+4224C>T rs75806597 0.00038
NM_003119.4(SPG7):c.1664-11C>A rs574656941 0.00025
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg) rs114854791 0.00022
NM_003119.4(SPG7):c.1359G>A (p.Ala453=) rs115448299 0.00021
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00019
NM_003119.4(SPG7):c.862-16T>G rs199954282 0.00016
NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser) rs199689138 0.00015
NM_003119.4(SPG7):c.2274C>T (p.Ile758=) rs147302322 0.00011
NM_003119.4(SPG7):c.1586C>T (p.Ala529Val) rs748600162 0.00010
NM_003119.4(SPG7):c.1971C>T (p.Ile657=) rs140356355 0.00009
NM_003119.4(SPG7):c.454A>G (p.Met152Val) rs146186857 0.00009
NM_003119.4(SPG7):c.1909G>A (p.Ala637Thr) rs549735647 0.00007
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val) rs754203248 0.00007
NM_003119.4(SPG7):c.306C>T (p.Asn102=) rs147397994 0.00007
NM_003119.4(SPG7):c.1236G>A (p.Ala412=) rs201129878 0.00006
NM_003119.4(SPG7):c.1325-6C>T rs371986686 0.00006
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042 0.00005
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00005
NM_003119.4(SPG7):c.1266C>T (p.Ser422=) rs767857665 0.00004
NM_003119.4(SPG7):c.1422C>T (p.His474=) rs201482100 0.00004
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) rs562890289 0.00004
NM_003119.4(SPG7):c.184-4T>C rs533778042 0.00004
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg) rs369503365 0.00004
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698 0.00004
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr) rs114255772 0.00004
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_003119.4(SPG7):c.1553-2A>G rs1229749476 0.00003
NM_003119.4(SPG7):c.1553-2_1553-1del rs772828460 0.00003
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu) rs753956374 0.00003
NM_003119.4(SPG7):c.663G>A (p.Lys221=) rs575421836 0.00003
NM_003119.4(SPG7):c.878C>T (p.Ala293Val) rs201723702 0.00003
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter) rs1373388852 0.00002
NM_003119.4(SPG7):c.201del (p.Leu67_Leu68insTer) rs763413730 0.00002
NM_003119.4(SPG7):c.619-7C>A rs779835775 0.00002
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser) rs537421502 0.00001
NM_003119.4(SPG7):c.1170del (p.Arg391fs) rs1216905667 0.00001
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter) rs748555510 0.00001
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln) rs756535079 0.00001
NM_003119.4(SPG7):c.1420C>T (p.His474Tyr) rs1567926386 0.00001
NM_003119.4(SPG7):c.1552+2dup rs1567928509 0.00001
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030 0.00001
NM_003119.4(SPG7):c.1702C>T (p.Gln568Ter) rs946925151 0.00001
NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser) rs72547552 0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp) rs1329063851 0.00001
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507 0.00001
NM_003119.4(SPG7):c.1923C>T (p.Asn641=) rs1482532650 0.00001
NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr) rs2058661391 0.00001
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094 0.00001
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys) rs752257333 0.00001
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu) rs879253797 0.00001
NM_003119.4(SPG7):c.2271del (p.Met757fs) rs1217391623 0.00001
NM_003119.4(SPG7):c.2373G>A (p.Pro791=) rs768453376 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) rs912983346 0.00001
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter) rs370777371 0.00001
NM_003119.4(SPG7):c.618+14C>T rs574361328 0.00001
NM_003119.4(SPG7):c.759-2A>G rs770299071 0.00001
NM_003119.4(SPG7):c.861+1G>C rs1412575396 0.00001
NM_003119.4(SPG7):c.861+5G>A rs757333854 0.00001
NM_003119.4(SPG7):c.1031G>A (p.Gly344Asp)
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr) rs199789849
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003119.4(SPG7):c.1053del (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala) rs2058357964
NM_003119.4(SPG7):c.1186G>T (p.Glu396Ter) rs2058358241
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn) rs745444834
NM_003119.4(SPG7):c.1324+2T>G rs1597635592
NM_003119.4(SPG7):c.1417C>T (p.Arg473Trp)
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) rs267607085
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met) rs778387199
NM_003119.4(SPG7):c.1779+1G>T
NM_003119.4(SPG7):c.184-3C>A rs780601561
NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter) rs769258044
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg) rs368541637
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) rs758702550
NM_003119.4(SPG7):c.1940C>A (p.Ala647Glu) rs776380988
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro) rs373143136
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr) rs121918357
NM_003119.4(SPG7):c.2083C>T (p.Leu695=) rs754203248
NM_003119.4(SPG7):c.2102A>C (p.His701Pro) rs372180825
NM_003119.4(SPG7):c.2104-2A>G rs1567934754
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp) rs2152412388
NM_003119.4(SPG7):c.2182-881A>G rs903594842
NM_003119.4(SPG7):c.2240T>C (p.Ile747Thr) rs764133074
NM_003119.4(SPG7):c.273_274del (p.Trp92fs) rs2543672662
NM_003119.4(SPG7):c.292_295del (p.Thr98fs)
NM_003119.4(SPG7):c.335_336insTA (p.Glu112fs)
NM_003119.4(SPG7):c.618+11_618+68del rs1555611542
NM_003119.4(SPG7):c.759-11_759-8del rs758385553
NM_003119.4(SPG7):c.763C>T (p.Leu255=) rs2058311848
NM_003119.4(SPG7):c.861+6T>C rs765178985
NM_003119.4(SPG7):c.958G>T (p.Glu320Ter)
NM_003119.4(SPG7):c.976_987+3del rs878854606
NM_003119.4(SPG7):c.987+5A>C rs4785691
NM_003119.4(SPG7):c.988-7C>T

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.