ClinVar Miner

Variants with conflicting interpretations studied for Cohen syndrome

Coded as:
Minimum review status of the submission for Cohen syndrome: Collection method of the submission for Cohen syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
4980 663 0 239 187 0 21 413

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 0 186 11 1 1
likely pathogenic 186 0 14 4 2
uncertain significance 11 14 0 177 34
likely benign 1 4 177 0 53
benign 1 2 34 53 0

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition 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
Cohen syndrome 4980 663 0 239 187 0 21 413
Cohen syndrome; High myopia, early-onset 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 413
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00689
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00658
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00530
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00445
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00355
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_152564.5(VPS13B):c.4746-15T>C rs117058417 0.00260
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_152564.5(VPS13B):c.4746-14C>T rs112780006 0.00205
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545 0.00144
NM_152564.5(VPS13B):c.2651-15A>C rs370251406 0.00135
NM_152564.5(VPS13B):c.10824C>T (p.His3608=) rs114818249 0.00126
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00121
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00107
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00104
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=) rs114038492 0.00088
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00071
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00070
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00067
NM_152564.5(VPS13B):c.11495+6A>G rs116546060 0.00066
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00066
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00048
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser) rs146460917 0.00042
NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile) rs376498106 0.00042
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile) rs140709787 0.00041
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser) rs147342579 0.00033
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) rs149176010 0.00032
NM_152564.5(VPS13B):c.885C>T (p.Gly295=) rs143112539 0.00032
NM_152564.5(VPS13B):c.10867+11A>G rs376656751 0.00030
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_152564.5(VPS13B):c.3436C>G (p.Leu1146Val) rs202015701 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=) rs142380266 0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val) rs376308074 0.00027
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=) rs148033080 0.00027
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=) rs140090983 0.00025
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00025
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=) rs201650333 0.00023
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) rs147710096 0.00022
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val) rs141638933 0.00021
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00019
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 0.00019
NM_152564.5(VPS13B):c.4225-6G>A rs199755508 0.00018
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile) rs141793014 0.00016
NM_152564.5(VPS13B):c.3083-9C>T rs376659281 0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu) rs201723380 0.00016
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=) rs150376603 0.00016
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=) rs368851580 0.00016
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His) rs147099791 0.00016
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg) rs150767461 0.00014
NM_152564.5(VPS13B):c.2333+12A>T rs373498932 0.00014
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_152564.5(VPS13B):c.4746-7T>C rs201136777 0.00014
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=) rs182347753 0.00014
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met) rs191174682 0.00013
NM_152564.5(VPS13B):c.1843+10T>C rs371154826 0.00013
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274 0.00013
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948 0.00013
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=) rs144223843 0.00013
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala) rs780702951 0.00013
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr) rs143566455 0.00011
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676 0.00011
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00011
NM_152564.5(VPS13B):c.7668C>T (p.Ser2556=) rs370903187 0.00011
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00010
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=) rs200982547 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) rs533701597 0.00010
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile) rs117934093 0.00009
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val) rs142110082 0.00009
NM_152564.5(VPS13B):c.10868-7G>A rs376141593 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln) rs141566041 0.00007
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser) rs534471615 0.00007
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) rs145950999 0.00005
NM_152564.5(VPS13B):c.1652-9T>A rs375615155 0.00005
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00005
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00005
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe) rs200268089 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.11616G>A (p.Val3872=) rs760377055 0.00004
NM_152564.5(VPS13B):c.1425+9G>A rs551460373 0.00004
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His) rs138171489 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=) rs754939057 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00004
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu) rs144668374 0.00004
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=) rs143728471 0.00004
NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=) rs773474909 0.00003
NM_152564.5(VPS13B):c.11044+5C>T rs764708878 0.00003
NM_152564.5(VPS13B):c.1121C>T (p.Thr374Ile) rs753781360 0.00003
NM_152564.5(VPS13B):c.2935-4C>T rs207469601 0.00003
NM_152564.5(VPS13B):c.5077-13G>A rs376055963 0.00003
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=) rs763701016 0.00003
NM_152564.5(VPS13B):c.9573A>G (p.Ala3191=) rs189680814 0.00003
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met) rs753703762 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=) rs199868590 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val) rs562686924 0.00002
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=) rs775071483 0.00002
NM_152564.5(VPS13B):c.3865A>G (p.Thr1289Ala) rs752808333 0.00002
NM_152564.5(VPS13B):c.4908G>A (p.Arg1636=) rs765924507 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs) rs763909903 0.00002
NM_152564.5(VPS13B):c.672C>T (p.Tyr224=) rs760171272 0.00002
NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=) rs913138802 0.00002
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=) rs753530965 0.00002
NM_152564.5(VPS13B):c.9816G>A (p.Gln3272=) rs1397608904 0.00002
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=) rs775601813 0.00002
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser) rs79324124 0.00001
NM_152564.5(VPS13B):c.10776G>A (p.Ser3592=) rs547516730 0.00001
NM_152564.5(VPS13B):c.10977G>A (p.Arg3659=) rs1374692917 0.00001
NM_152564.5(VPS13B):c.11040C>T (p.Ser3680=) rs199748413 0.00001
NM_152564.5(VPS13B):c.11070C>T (p.Leu3690=) rs185477101 0.00001
NM_152564.5(VPS13B):c.11202C>T (p.Gly3734=) rs766658666 0.00001
NM_152564.5(VPS13B):c.11215+8G>T rs1285906381 0.00001
NM_152564.5(VPS13B):c.1137A>G (p.Lys379=) rs1847925535 0.00001
NM_152564.5(VPS13B):c.1141C>T (p.Gln381Ter) rs774376104 0.00001
NM_152564.5(VPS13B):c.114C>T (p.Ser38=) rs768496696 0.00001
NM_152564.5(VPS13B):c.11501del (p.Met3834fs) rs1394681818 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.11746-1G>A rs372327659 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_152564.5(VPS13B):c.1662T>C (p.Asn554=) rs2488785957 0.00001
NM_152564.5(VPS13B):c.1701A>G (p.Gly567=) rs1233669833 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.207A>T (p.Val69=) rs772922484 0.00001
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=) rs146450992 0.00001
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527 0.00001
NM_152564.5(VPS13B):c.2651-10T>G rs398124330 0.00001
NM_152564.5(VPS13B):c.3022C>T (p.Gln1008Ter) rs567092790 0.00001
NM_152564.5(VPS13B):c.3234G>A (p.Val1078=) rs1339519603 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.4140T>A (p.Ile1380=) rs763157781 0.00001
NM_152564.5(VPS13B):c.4224+556A>G rs1554824890 0.00001
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs) rs386834084 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.4959G>A (p.Arg1653=) rs182877520 0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_152564.5(VPS13B):c.5124C>T (p.Asn1708=) rs746586467 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152564.5(VPS13B):c.5221-5T>C rs761788793 0.00001
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile) rs771916272 0.00001
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter) rs1057516633 0.00001
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs) rs886041586 0.00001
NM_152564.5(VPS13B):c.5705C>A (p.Ser1902Ter) rs1829401940 0.00001
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter) rs386834099 0.00001
NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=) rs765209957 0.00001
NM_152564.5(VPS13B):c.5832C>T (p.His1944=) rs372340783 0.00001
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00001
NM_152564.5(VPS13B):c.5909-8C>T rs369342604 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=) rs774730061 0.00001
NM_152564.5(VPS13B):c.6714T>C (p.Asn2238=) rs375613057 0.00001
NM_152564.5(VPS13B):c.6866-14C>A rs1277958075 0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) rs386834104 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=) rs981350121 0.00001
NM_152564.5(VPS13B):c.7965T>C (p.Gly2655=) rs758430817 0.00001
NM_152564.5(VPS13B):c.7980T>G (p.Arg2660=) rs780841974 0.00001
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln) rs370701337 0.00001
NM_152564.5(VPS13B):c.8361+12C>T rs886062546 0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) rs386834112 0.00001
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00001
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter) rs755996065 0.00001
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219 0.00001
NM_152564.5(VPS13B):c.8964T>C (p.Ala2988=) rs756929597 0.00001
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=) rs78277780 0.00001
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=) rs564362618 0.00001
NM_152564.5(VPS13B):c.972T>G (p.Tyr324Ter) rs1243094816 0.00001
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.5(VPS13B):c.4207del (p.Ser1403fs) rs1436874013
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met) rs542986432
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs) rs1057516324
NM_152564.5(VPS13B):c.10065G>A (p.Ala3355=) rs61753726
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe) rs535553836
NM_152564.5(VPS13B):c.10148C>G (p.Ser3383Ter) rs1014479884
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) rs1554581267
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs) rs1554581504
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter) rs1847921335
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter) rs2492239989
NM_152564.5(VPS13B):c.10696C>T (p.Gln3566Ter) rs2130918298
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter) rs1057520769
NM_152564.5(VPS13B):c.10772_10774del (p.Phe3591del) rs1554581821
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.11044+1G>A rs2492279185
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.11083del (p.Ala3695fs) rs751118731
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_152564.5(VPS13B):c.11216-2A>G rs867112705
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) rs1347701279
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs) rs1057516245
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11419C>T (p.Gln3807Ter) rs2130972411
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs) rs386834062
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) rs386834064
NM_152564.5(VPS13B):c.11496-2A>G rs1554588353
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter) rs1554625838
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs) rs1588811810
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11745+8T>C rs2130976234
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11776C>T (p.Gln3926Ter) rs2492411190
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs) rs1371736348
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs) rs1554590433
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs) rs1057517328
NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer) rs1554590486
NM_152564.5(VPS13B):c.1206+19_1206+34del rs750619814
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.1246C>T (p.Gln416Ter) rs1809977682
NM_152564.5(VPS13B):c.1264G>T (p.Glu422Ter) rs2488758091
NM_152564.5(VPS13B):c.1277G>A (p.Trp426Ter) rs2488758180
NM_152564.5(VPS13B):c.1297del (p.Val433fs)
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer) rs1408744761
NM_152564.5(VPS13B):c.1366del (p.Cys456fs) rs2132555225
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=) rs1810005490
NM_152564.5(VPS13B):c.142del (p.Glu48fs)
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) rs2132556658
NM_152564.5(VPS13B):c.1524T>C (p.Gly508=)
NM_152564.5(VPS13B):c.1652-7del rs757852076
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs) rs1057517177
NM_152564.5(VPS13B):c.1666C>T (p.Gln556Ter)
NM_152564.5(VPS13B):c.1990C>T (p.Leu664=) rs778967880
NM_152564.5(VPS13B):c.1992A>C (p.Leu664=) rs758566685
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu) rs372585253
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.2208+9del rs2132624713
NM_152564.5(VPS13B):c.2292C>T (p.Ser764=) rs1812241934
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter) rs1554666009
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=) rs540795071
NM_152564.5(VPS13B):c.2651-1G>A rs386834077
NM_152564.5(VPS13B):c.2814C>T (p.Cys938=)
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter) rs1563700205
NM_152564.5(VPS13B):c.2935-10C>T rs1814449043
NM_152564.5(VPS13B):c.3025C>T (p.Gln1009Ter) rs2133312718
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3032_3033del (p.Tyr1011fs) rs2489875713
NM_152564.5(VPS13B):c.3208del (p.Gln1070fs) rs2490099762
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs) rs2490161693
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3423C>A (p.Ile1141=) rs1180404619
NM_152564.5(VPS13B):c.3445+1G>A
NM_152564.5(VPS13B):c.3588A>G (p.Gly1196=) rs2490281826
NM_152564.5(VPS13B):c.3664C>T (p.Gln1222Ter) rs2133511511
NM_152564.5(VPS13B):c.3666+2T>C rs386834082
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs) rs753645306
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs) rs1057516653
NM_152564.5(VPS13B):c.4113G>T (p.Val1371=) rs769085208
NM_152564.5(VPS13B):c.413-9A>G rs2132453724
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs) rs1057517076
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs) rs1554826566
NM_152564.5(VPS13B):c.4545del (p.Ser1516fs) rs1057518939
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.4746-13G>A rs561446691
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.4832T>A (p.Ile1611Asn) rs2490789575
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) rs180177360
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.4959del (p.His1654fs) rs1166814614
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.5171del (p.Gln1723_Leu1724insTer) rs1434257397
NM_152564.5(VPS13B):c.5284C>T (p.Arg1762Cys) rs780314338
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del) rs1057519183
NM_152564.5(VPS13B):c.5502G>T (p.Ser1834=) rs143115716
NM_152564.5(VPS13B):c.5508A>T (p.Ser1836=) rs2133931892
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val) rs141211386
NM_152564.5(VPS13B):c.5533dup (p.Thr1845fs) rs1176397159
NM_152564.5(VPS13B):c.5599del (p.Ile1867fs) rs1829396950
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs) rs386834096
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.5740C>A (p.Arg1914=)
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs) rs754016783
NM_152564.5(VPS13B):c.580+1G>A rs1846848656
NM_152564.5(VPS13B):c.5908+14A>C rs886062543
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter) rs2491289979
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_152564.5(VPS13B):c.6132G>A (p.Lys2044=) rs1832185851
NM_152564.5(VPS13B):c.6140dup (p.Asn2047fs) rs2130179734
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter) rs1057516489
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter) rs1057516287
NM_152564.5(VPS13B):c.6435G>A (p.Lys2145=)
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter) rs1057516494
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs) rs1057517318
NM_152564.5(VPS13B):c.6531C>T (p.Arg2177=) rs753694921
NM_152564.5(VPS13B):c.6581_6582dup (p.Lys2195fs)
NM_152564.5(VPS13B):c.6657+1G>T rs180177366
NM_152564.5(VPS13B):c.6658-10G>T rs1833085926
NM_152564.5(VPS13B):c.6672A>G (p.Gln2224=) rs2130339813
NM_152564.5(VPS13B):c.673C>T (p.Gln225Ter)
NM_152564.5(VPS13B):c.6834dup (p.Thr2279fs) rs2491577873
NM_152564.5(VPS13B):c.6888C>G (p.Val2296=) rs1563881584
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) rs767858119
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.7143G>A (p.Leu2381=)
NM_152564.5(VPS13B):c.7144C>T (p.Gln2382Ter) rs2491774358
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs) rs386834105
NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter) rs2491774546
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs) rs1554952465
NM_152564.5(VPS13B):c.7326T>C (p.Val2442=) rs2130668217
NM_152564.5(VPS13B):c.7347G>A (p.Trp2449Ter)
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs) rs1811766430
NM_152564.5(VPS13B):c.7429+1G>A rs386834106
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=) rs751190453
NM_152564.5(VPS13B):c.7554T>C (p.Cys2518=) rs2491842464
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter) rs2130679206
NM_152564.5(VPS13B):c.7689T>C (p.Leu2563=) rs2130679519
NM_152564.5(VPS13B):c.7732C>T (p.Gln2578Ter) rs1230710158
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs) rs1554622608
NM_152564.5(VPS13B):c.8073G>A (p.Gln2691=) rs2130785995
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu) rs180177370
NM_152564.5(VPS13B):c.8341G>T (p.Glu2781Ter) rs1379711249
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter) rs1057516484
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8494_8495del (p.Ile2832fs) rs2130813916
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs) rs765302278
NM_152564.5(VPS13B):c.8622-2A>G rs386834115
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.874T>G (p.Phe292Val) rs779095081
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs) rs1057516538
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.9089G>A (p.Trp3030Ter) rs151159090
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs) rs1057516789
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9226C>T (p.Gln3076Ter)
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs) rs773945333
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs) rs754443525
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) rs2130858031
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs) rs1554574028
NM_152564.5(VPS13B):c.9634C>T (p.Gln3212Ter) rs1563499381
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) rs941969577
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs) rs774357106
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer) rs1301330402

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.