ClinVar Miner

Variants with conflicting interpretations studied for Spastic paraplegia, autosomal dominant

Coded as:
Minimum review status of the submission for Spastic paraplegia, autosomal dominant: Y axis collection method of the submission for Spastic paraplegia, autosomal dominant:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
363 20 0 65 22 1 1 82

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.

All conditions
Spastic paraplegia, autosomal dominant pathogenic uncertain significance likely benign benign risk factor
uncertain significance 0 0 9 3 0
likely benign 1 10 0 56 1
benign 0 0 9 0 0

Condition to condition summary #

Total conditions: 12
Download table as spreadsheet
Condition 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
not specified 0 26 0 44 9 0 0 53
Spastic paraplegia 0 5 0 31 6 0 0 37
not provided 0 5 0 9 4 0 0 13
Spastic paraplegia 3 0 2 0 7 0 0 0 7
Spastic paraplegia 4, autosomal dominant 0 1 0 4 3 0 0 6
Dandy-Walker like malformation with atrioventricular septal defect; Spastic paraplegia 8 0 1 0 5 0 0 0 5
Spastic paraplegia 6 0 2 0 3 1 0 0 4
Hereditary spastic paraplegia 0 0 0 0 1 0 0 1
Spastic paraplegia 31, autosomal dominant 0 1 0 1 0 0 0 1
Spastic paraplegia 33, autosomal dominant 0 1 0 0 0 0 1 1
Spastic paraplegia 4, modifier of 0 0 0 0 0 1 0 1
Spastic tetraparesis 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 82
Download table as spreadsheet
HGVS dbSNP
NM_001002261.3(ZFYVE27):c.126C>T (p.Leu42=) rs17419023
NM_001002261.3(ZFYVE27):c.244G>A (p.Val82Ile) rs17108378
NM_001002261.3(ZFYVE27):c.32C>T (p.Pro11Leu) rs112316490
NM_001002261.3(ZFYVE27):c.378G>A (p.Lys126=) rs75060573
NM_001002261.3(ZFYVE27):c.413G>T (p.Gly138Val) rs10882993
NM_001002261.3(ZFYVE27):c.424C>T (p.Arg142Cys) rs145746084
NM_001002261.3(ZFYVE27):c.522G>A (p.Leu174=) rs143515214
NM_001002261.3(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384
NM_001002261.3(ZFYVE27):c.62C>T (p.Ala21Val) rs140812293
NM_001002261.3(ZFYVE27):c.79C>G (p.Pro27Ala) rs34979921
NM_002156.4(HSPD1):c.-3+15C>T rs59701865
NM_002156.4(HSPD1):c.1216-9C>T rs189395138
NM_002156.4(HSPD1):c.1360T>C (p.Leu454=) rs147135152
NM_002156.4(HSPD1):c.1446T>C (p.Asn482=) rs2303884
NM_002156.4(HSPD1):c.144C>T (p.Ala48=) rs11551346
NM_002156.4(HSPD1):c.1688G>C (p.Gly563Ala) rs41265953
NM_002156.4(HSPD1):c.18A>G (p.Thr6=) rs79630442
NM_002156.4(HSPD1):c.273A>G (p.Lys91=) rs8539
NM_002156.4(HSPD1):c.27C>G (p.Arg9=) rs11551349
NM_002156.4(HSPD1):c.561T>C (p.Ser187=) rs141357756
NM_002156.4(HSPD1):c.603A>G (p.Val201=) rs146598485
NM_002156.4(HSPD1):c.69T>C (p.Thr23=) rs1050347
NM_004733.3(SLC33A1):c.136G>A (p.Glu46Lys) rs149571533
NM_004733.3(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173
NM_004733.3(SLC33A1):c.327A>G (p.Gln109=) rs74578336
NM_004984.2(KIF5A):c.129+9C>T rs372131378
NM_004984.2(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678
NM_004984.2(KIF5A):c.2769G>A (p.Arg923=) rs35225609
NM_004984.3(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639
NM_004984.3(KIF5A):c.1176G>A (p.Glu392=) rs75907338
NM_004984.3(KIF5A):c.1293+9G>A rs201749114
NM_004984.3(KIF5A):c.2040G>A (p.Val680=) rs117670788
NM_004984.3(KIF5A):c.2199-4G>A rs201366820
NM_004984.3(KIF5A):c.2412C>T (p.Asp804=) rs145062338
NM_004984.3(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016
NM_004984.3(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976
NM_004984.3(KIF5A):c.396+14G>A rs17119769
NM_004984.3(KIF5A):c.471C>T (p.His157=) rs143178113
NM_004984.3(KIF5A):c.714+8G>A rs199624091
NM_005619.4(RTN2):c.1143G>A (p.Ala381=) rs45532933
NM_014846.3(WASHC5):c.1151-8G>A rs16900335
NM_014846.3(WASHC5):c.1245A>G (p.Leu415=) rs10429323
NM_014846.3(WASHC5):c.1408+7A>G rs16900312
NM_014846.3(WASHC5):c.2100G>A (p.Val700=) rs148936723
NM_014846.3(WASHC5):c.2771-7T>C rs142685897
NM_014846.3(WASHC5):c.3225A>G (p.Pro1075=) rs34569226
NM_014846.3(WASHC5):c.3291G>A (p.Ala1097=) rs11542889
NM_014846.3(WASHC5):c.3319G>A (p.Val1107Met) rs138407503
NM_014846.3(WASHC5):c.597A>G (p.Pro199=) rs7812319
NM_014846.3(WASHC5):c.732G>A (p.Pro244=) rs146320386
NM_014946.3(SPAST):c.*11T>C rs753913367
NM_014946.3(SPAST):c.-41C>T rs374327295
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_014946.3(SPAST):c.289C>A (p.Pro97Thr) rs372005558
NM_014946.3(SPAST):c.484G>A (p.Val162Ile) rs141944844
NM_014946.3(SPAST):c.586+9_586+12delTAAT rs554544808
NM_014946.3(SPAST):c.683-9C>T rs202209866
NM_014946.3(SPAST):c.865C>T (p.His289Tyr) rs74688377
NM_014946.3(SPAST):c.879G>A (p.Pro293=) rs145264166
NM_015915.4(ATL1):c.1152A>G (p.Pro384=) rs377127492
NM_015915.4(ATL1):c.1173C>T (p.His391=) rs149340140
NM_015915.4(ATL1):c.351G>A (p.Glu117=) rs1060197
NM_015915.4(ATL1):c.408T>C (p.Asp136=) rs76375909
NM_015915.4(ATL1):c.417+3A>G rs200310890
NM_015915.4(ATL1):c.621G>A (p.Lys207=) rs35629585
NM_015915.4(ATL1):c.669C>T (p.Tyr223=) rs146975855
NM_015915.4(ATL1):c.693T>C (p.Gly231=) rs139720661
NM_015915.4(ATL1):c.705C>T (p.Phe235=) rs35044504
NM_015915.4(ATL1):c.84A>G (p.Pro28=) rs35014209
NM_015915.4(ATL1):c.991-6T>G rs192428744
NM_022912.2(REEP1):c.*155T>C rs141976852
NM_022912.2(REEP1):c.*50G>A rs189652973
NM_022912.2(REEP1):c.285G>A (p.Thr95=) rs2276625
NM_022912.2(REEP1):c.486C>T (p.Asp162=) rs139806812
NM_144599.4(NIPA1):c.291C>G (p.Pro97=) rs199818530
NM_144599.4(NIPA1):c.312G>A (p.Pro104=) rs139372534
NM_144599.4(NIPA1):c.42_47dupGGCGGC (p.Ala16_Gly17insAlaAla) rs531550505
NM_144599.4(NIPA1):c.441A>G (p.Thr147=) rs11263683
NM_144599.4(NIPA1):c.45_47delGGC (p.Ala16del) rs531550505
NM_144599.4(NIPA1):c.537C>T (p.Ile179=) rs547634456
NM_206900.2(RTN2):c.1374C>T (p.Ala458=) rs148630935
NM_206900.2(RTN2):c.949G>A (p.Gly317Ser) rs143937661

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