ClinVar Miner

Variants with conflicting interpretations studied for Cohen syndrome

Coded as:
Minimum review status of the submission for Cohen syndrome: Y axis collection method of the submission for Cohen syndrome:
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
435 64 16 91 55 0 9 148

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
Cohen syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 23 4 1 1
likely pathogenic 48 16 4 0 0
uncertain significance 2 4 0 35 15
likely benign 1 0 26 0 26
benign 0 0 17 39 0

Condition to condition summary #

Total conditions: 8
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
Cohen syndrome 521 37 16 45 25 0 6 89
not provided 0 39 1 44 32 0 3 75
not specified 0 23 0 34 29 0 1 54
History of neurodevelopmental disorder 0 20 0 29 26 0 2 51
Inborn genetic diseases 0 3 0 2 1 0 0 3
Abnormality of the eye 0 0 0 0 0 0 2 2
Global developmental delay; Unsteady gait; Microcephaly; Carious teeth; Intellectual disability; Generalized joint laxity; Attention deficit hyperactivity disorder; Muscular hypotonia 0 0 0 1 0 0 0 1
Short stature; Retinal dystrophy; Microcephaly; Progressive visual loss; Intellectual disability; Short foot; Neutropenia; Recurrent aphthous stomatitis; Small hand 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 148
Download table as spreadsheet
HGVS dbSNP
NM_017890.4(VPS13B):c.10018G>A (p.Val3340Ile) rs116746734
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) rs138127778
NM_017890.4(VPS13B):c.10156dupA (p.Thr3386Asnfs) rs386834055
NM_017890.4(VPS13B):c.10230G>A (p.Glu3410=) rs115369860
NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) rs6468694
NM_017890.4(VPS13B):c.10315T>C (p.Leu3439=) rs145279584
NM_017890.4(VPS13B):c.1041A>G (p.Ser347=) rs149176010
NM_017890.4(VPS13B):c.10456_10457delAG (p.Leu3487Profs) rs180177371
NM_017890.4(VPS13B):c.10830C>T (p.Asp3610=) rs145950999
NM_017890.4(VPS13B):c.10888C>T (p.Gln3630Ter) rs120074154
NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter) rs386834057
NM_017890.4(VPS13B):c.10980T>C (p.Pro3660=) rs61754107
NM_017890.4(VPS13B):c.11007C>T (p.Asn3669=) rs745337140
NM_017890.4(VPS13B):c.11013C>T (p.Val3671=) rs758028194
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11169_11172dupGGAC (p.Arg3725Glyfs) rs386834059
NM_017890.4(VPS13B):c.11256A>G (p.Arg3752=) rs138667007
NM_017890.4(VPS13B):c.11270G>A (p.Arg3757Gln) rs149318176
NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) rs386834061
NM_017890.4(VPS13B):c.11571-2A>G rs1554588353
NM_017890.4(VPS13B):c.11595delA (p.Arg3865Serfs) rs747217399
NM_017890.4(VPS13B):c.11640A>G (p.Ser3880=) rs7844645
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
NM_017890.4(VPS13B):c.11695_11698delAGTG (p.Ser3901Argfs) rs386834066
NM_017890.4(VPS13B):c.11780_11784delCAGTGinsAGAA (p.Thr3927Lysfs) rs386834067
NM_017890.4(VPS13B):c.11825_11827dupATG (p.Asp3942_Gly3943insAsp) rs386834068
NM_017890.4(VPS13B):c.11906_11915delCCAGCTGTTC (p.Pro3969Leufs) rs386834069
NM_017890.4(VPS13B):c.11907dupC (p.Ser3970Glnfs) rs180177374
NM_017890.4(VPS13B):c.11959C>G (p.Pro3987Ala) rs201483764
NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_017890.4(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_017890.4(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_017890.4(VPS13B):c.1463C>T (p.Thr488Met) rs150783688
NM_017890.4(VPS13B):c.1536A>G (p.Glu512=) rs145969836
NM_017890.4(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_017890.4(VPS13B):c.1782T>C (p.Ile594=) rs145648860
NM_017890.4(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109
NM_017890.4(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356
NM_017890.4(VPS13B):c.2124T>C (p.Ala708=) rs201650333
NM_017890.4(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_017890.4(VPS13B):c.2275G>C (p.Val759Leu) rs140848350
NM_017890.4(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721
NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_017890.4(VPS13B):c.2596G>A (p.Val866Ile) rs150185067
NM_017890.4(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544
NM_017890.4(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438
NM_017890.4(VPS13B):c.2727_2730dupGCTC (p.Asn911Alafs) rs180177357
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) rs138661755
NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078
NM_017890.4(VPS13B):c.292-2A>G rs386834079
NM_017890.4(VPS13B):c.2934+14A>T rs187151724
NM_017890.4(VPS13B):c.2934+1_2934+2delGT rs180177358
NM_017890.4(VPS13B):c.3027_3045dup19 (p.Tyr1016Ilefs) rs1057516670
NM_017890.4(VPS13B):c.3075G>A (p.Thr1025=) rs141637316
NM_017890.4(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_017890.4(VPS13B):c.3204A>G (p.Thr1068=)
NM_017890.4(VPS13B):c.3240delT (p.Pro1081Glnfs) rs764544747
NM_017890.4(VPS13B):c.3243A>G (p.Pro1081=) rs34961653
NM_017890.4(VPS13B):c.3297A>C (p.Thr1099=) rs200982547
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3413C>T (p.Pro1138Leu) rs35342235
NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080
NM_017890.4(VPS13B):c.358A>G (p.Ile120Val) rs201147123
NM_017890.4(VPS13B):c.3667-7C>T rs35543295
NM_017890.4(VPS13B):c.3744A>G (p.Leu1248=) rs16897391
NM_017890.4(VPS13B):c.3837C>T (p.Cys1279=) rs34941871
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
NM_017890.4(VPS13B):c.4197T>C (p.Gly1399=) rs149796549
NM_017890.4(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622
NM_017890.4(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366
NM_017890.4(VPS13B):c.4300-6G>A rs199755508
NM_017890.4(VPS13B):c.4334delA (p.Gln1445Argfs) rs386834084
NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter) rs386834086
NM_017890.4(VPS13B):c.4820+2T>C rs386834091
NM_017890.4(VPS13B):c.4821-14C>T rs112780006
NM_017890.4(VPS13B):c.4821-7T>C rs201136777
NM_017890.4(VPS13B):c.4878_4880dupATA (p.Tyr1627_Gln1961delinsTer) rs180177359
NM_017890.4(VPS13B):c.4923G>A (p.Trp1641Ter) rs180177360
NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter) rs386834093
NM_017890.4(VPS13B):c.5215_5232del (p.Ser1739_Gln1744del) rs180177362
NM_017890.4(VPS13B):c.5426_5427dupAG (p.Gln1810Serfs) rs180177363
NM_017890.4(VPS13B):c.5461dupC (p.Arg1821Profs) rs180177364
NM_017890.4(VPS13B):c.5576C>T (p.Ser1859Leu) rs144257406
NM_017890.4(VPS13B):c.5590C>T (p.Gln1864Ter) rs1057516633
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.5682G>A (p.Thr1894=) rs368851580
NM_017890.4(VPS13B):c.5753_5754delTT (p.Leu1918Argfs) rs886041586
NM_017890.4(VPS13B):c.5809_5810delAT (p.Ile1937Cysfs) rs386834098
NM_017890.4(VPS13B):c.5827C>T (p.Arg1943Ter) rs386834099
NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) rs139640224
NM_017890.4(VPS13B):c.5983+2dupT rs587777381
NM_017890.4(VPS13B):c.5998_5999delCT (p.Leu2000Alafs) rs886041323
NM_017890.4(VPS13B):c.6002delC (p.Pro2001Leufs) rs755125969
NM_017890.4(VPS13B):c.6084delT (p.Phe2028Leufs) rs1357171752
NM_017890.4(VPS13B):c.6370_6371delAT rs748404277
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.6530-4dupT rs398124337
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.6733-2A>G rs386834103
NM_017890.4(VPS13B):c.7038A>G (p.Val2346=) rs61753724
NM_017890.4(VPS13B):c.7052G>A (p.Arg2351Gln) rs61754113
NM_017890.4(VPS13B):c.7126-1G>A rs930144563
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_017890.4(VPS13B):c.7292delA (p.Asn2431Thrfs) rs886041184
NM_017890.4(VPS13B):c.7322+2T>C
NM_017890.4(VPS13B):c.7413T>C (p.Phe2471=) rs150771329
NM_017890.4(VPS13B):c.7441G>A (p.Val2481Ile) rs201963516
NM_017890.4(VPS13B):c.7504+1G>A rs386834106
NM_017890.4(VPS13B):c.7722C>T (p.Phe2574=) rs112634620
NM_017890.4(VPS13B):c.7735G>C (p.Val2579Leu) rs202226215
NM_017890.4(VPS13B):c.7751T>C (p.Val2584Ala) rs7833870
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) rs140179844
NM_017890.4(VPS13B):c.7855-19C>T rs199981958
NM_017890.4(VPS13B):c.7876G>A (p.Glu2626Lys) rs144350008
NM_017890.4(VPS13B):c.7934G>A (p.Gly2645Asp) rs120074153
NM_017890.4(VPS13B):c.8025C>T (p.His2675=) rs61754503
NM_017890.4(VPS13B):c.8246A>G (p.Tyr2749Cys) rs138453594
NM_017890.4(VPS13B):c.8436+12C>T rs886062546
NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter) rs386834113
NM_017890.4(VPS13B):c.8521-1G>T rs1554566596
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.8697-9A>G rs386834116
NM_017890.4(VPS13B):c.8945T>A (p.Leu2982Ter) rs727504219
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.901_904delACTT (p.Thr301Valfs) rs759536357
NM_017890.4(VPS13B):c.9070-2A>G rs1554569259
NM_017890.4(VPS13B):c.9169G>T (p.Asp3057Tyr) rs140095832
NM_017890.4(VPS13B):c.916_917delGA (p.Asp306Tyrfs) rs386834117
NM_017890.4(VPS13B):c.9260dupT (p.Leu3087Phefs) rs180177329
NM_017890.4(VPS13B):c.9405+10T>A rs75904081
NM_017890.4(VPS13B):c.9405+1G>C rs756013171
NM_017890.4(VPS13B):c.9405+9A>G rs184381851
NM_017890.4(VPS13B):c.9406-1G>T rs386834119
NM_017890.4(VPS13B):c.9424A>G (p.Ser3142Gly) rs113671330
NM_017890.4(VPS13B):c.9444C>T (p.Cys3148=) rs745668942
NM_017890.4(VPS13B):c.9547C>T (p.Gln3183Ter) rs753770252
NM_017890.4(VPS13B):c.9567T>C (p.Ser3189=) rs36074608
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_017890.4(VPS13B):c.9793dupA (p.Met3265Asnfs) rs886041185
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.4(VPS13B):c.9978G>A (p.Glu3326=) rs150573530
NM_152564.4(VPS13B):c.11787C>T (p.Asn3929=) rs147710096
NM_152564.4(VPS13B):c.2451T>C (p.His817=) rs114120664
NM_152564.4(VPS13B):c.3262C>G (p.Pro1088Ala) rs373965494
NM_152564.4(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266

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