All variants in the VPS33B gene

Information The variants shown are described using the NM_018668.3 transcript reference sequence.

285 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/? ? c.-354-1749dup r.? p.? - VUS g.91567582dup g.91024352dup c.-354-u1749dup - VPS33B_000105 - - - rs36039192 Unknown - - - 0 - Paul Gissen
+/+ ? c.(?_-354)_(*431+127_?)del r.? p.(0?) - pathogenic g.(?_91541647)_(91565833_?)del - c.(?_-354)_(*431+d127_?)del - VPS33B_000235 - - - - Unknown - - - 0 - Paul Gissen
-/. - c.-325T>C r.(?) p.(=) - benign g.91565804A>G g.91022574A>G - - VPS33B_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/? ? c.-325T>C r.(?) p.(=) - VUS g.91565804A>G g.91022574A>G - - VPS33B_000213 - - - rs11073967 Unknown - 0.348 - 0 - Paul Gissen
?/? ? c.-7C>T r.(?) p.(=) - VUS g.91565486G>A g.91022256G>A - - VPS33B_000212 - - - rs11542639 Unknown - 0.0053 - 0 - Paul Gissen
-?/-? 1 c.21G>A r.(?) p.(=) - likely benign g.91565459C>T g.91022229C>T - - VPS33B_000214 - - - - Unknown - - - 0 - Paul Gissen
+/+ 1 c.67C>T r.(?) p.(Arg23*) - pathogenic g.91565413G>A g.91022183G>A - - VPS33B_000221 - - - - Unknown - - - 0 - Paul Gissen
+/+ 1 c.89T>C r.(?) p.(Leu30Pro) - pathogenic g.91565391A>G g.91022161A>G - - VPS33B_000001 - PubMed: Gissen 2004 - - Unknown - - - 0 - Paul Gissen
?/? 1i c.96+576A>T r.(=) p.(=) - VUS g.91564808T>A g.91021578T>A - - VPS33B_000186 - - - rs7177975 Unknown - 0.106 - 0 - Paul Gissen
?/? 1i c.96+628G>A r.(=) p.(=) - VUS g.91564756C>T g.91021526C>T - - VPS33B_000150 - - - rs28478359 Unknown - 0.205 - 0 - Paul Gissen
?/? 1i c.96+1127C>T r.(=) p.(=) - VUS g.91564257G>A g.91021027G>A - - VPS33B_000187 - - - rs7176746 Unknown - - - 0 - Paul Gissen
?/? 1i c.96+1316C>T r.(=) p.(=) - VUS g.91564068G>A g.91020838G>A - - VPS33B_000205 - - - rs1867224 Unknown - - - 0 - Paul Gissen
?/? 1i c.96+1555T>C r.(=) p.(=) - VUS g.91563829A>G g.91020599A>G - - VPS33B_000204 - - - rs1867225 Unknown - 0.342 - 0 - Paul Gissen
?/? 1i c.96+1614dup r.(=) p.(=) - VUS g.91563771dup g.91020541dup c.96+1612_96+1613insA - VPS33B_000092 - - - rs57978676 Unknown - - - 0 - Paul Gissen
?/? 1i c.96+1614dup r.(=) p.(=) - VUS g.91563771dup g.91020541dup c.96+1614_96+1615insA - VPS33B_000112 - - - rs34407460 Unknown - - - 0 - Paul Gissen
?/? 1i c.96+1871A>G r.(=) p.(=) - VUS g.91563513T>C g.91020283T>C - - VPS33B_000159 - - - rs12595616 Unknown - 0.337 - 0 - Paul Gissen
?/? 1i c.97-1925dup r.(=) p.(=) - VUS g.91563052dup g.91019822dup c.97-1938_97-1937insA - VPS33B_000087 - - - rs60712254 Unknown - - - 0 - Paul Gissen
?/? 1i c.97-1925dup r.(=) p.(=) - VUS g.91563052dup g.91019822dup c.97-1933_97-1932insA - VPS33B_000122 - - - rs5814457 Unknown - - - 0 - Paul Gissen
?/? 1i c.97-1925dup r.(=) p.(=) - VUS g.91563052dup g.91019822dup c.97-1925_97-1924insA - VPS33B_000108 - - - rs34753911 Unknown - - - 0 - Paul Gissen
?/? 1i c.97-1822G>T r.(=) p.(=) - VUS g.91562937C>A g.91019707C>A - - VPS33B_000206 - - - rs1108351 Unknown - 0.176 - 0 - Paul Gissen
?/? 1i c.97-1386dup r.(=) p.(=) - VUS g.91562502dup g.91019272dup c.97-1386_97-1385insG - VPS33B_000101 - - - rs35259252 Unknown - - - 0 - Paul Gissen
?/? 1i c.97-1232_97-1230dup r.(=) p.(=) - VUS g.91562367_91562369dup g.91019137_91019139dup - - VPS33B_000103 - - - rs60709933 Unknown - - - 0 - Paul Gissen
?/? 1i c.97-1230del r.(=) p.(=) - VUS g.91562369del g.91019139del - - VPS33B_000121 - - - rs7171019 Unknown - - - 0 - Paul Gissen
?/? 1i c.97-1164T>C r.(=) p.(=) - VUS g.91562279A>G g.91019049A>G - - VPS33B_000174 - - - rs11073966 Unknown - 0.36 - 0 - Paul Gissen
?/? 1i c.97-890T>C r.(=) p.(=) - VUS g.91562005A>G g.91018775A>G - - VPS33B_000181 - - - rs8026678 Unknown - 0.338 - 0 - Paul Gissen
?/? 1i c.97-471G>A r.(=) p.(=) - VUS g.91561586C>T g.91018356C>T - - VPS33B_000163 - - - rs12161921 Unknown - 0.187 - 0 - Paul Gissen
?/? 1i c.97-336T>C r.(=) p.(=) - VUS g.91561451A>G g.91018221A>G - - VPS33B_000184 - - - rs7182400 Unknown - - - 0 - Paul Gissen
?/? 1i c.97-331A>G r.(=) p.(=) - VUS g.91561446T>C g.91018216T>C - - VPS33B_000190 - - - rs7164916 Unknown - 0.339 - 0 - Paul Gissen
?/? 1i c.97-67G>A r.(=) p.(=) - VUS g.91561182C>T g.91017952C>T - - VPS33B_000201 - - - rs3743445 Unknown - 0.111 - 0 - Paul Gissen
+/+ 1i c.97-2A>C r.spl? p.? - pathogenic g.91561117T>G g.91017887T>G - - VPS33B_000223 - - - - Unknown - - - 0 - Paul Gissen
?/? 1i c.97_1230dup r.(?) p.(=) - VUS g.91546358_91561116dup g.91003128_91017886dup - - VPS33B_000113 - - - rs34071618 Unknown - - - 0 - Paul Gissen
-?/. - c.133C>A r.(?) p.(Leu45Ile) - likely benign g.91561079G>T g.91017849G>T VPS33B(NM_018668.3):c.133C>A (p.(Leu45Ile)) - VPS33B_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.136A>T r.(?) p.(Met46Leu) - likely benign g.91561076T>A g.91017846T>A VPS33B(NM_018668.3):c.136A>T (p.(Met46Leu)) - VPS33B_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/? 2 c.147G>A r.(?) p.(=) - VUS g.91561065C>T g.91017835C>T - - VPS33B_000034 - - - rs143087354 Unknown - - - 0 - Paul Gissen
-?/. - c.151C>A r.(?) p.(Arg51=) - likely benign g.91561061G>T g.91017831G>T VPS33B(NM_018668.4):c.151C>A (p.R51=) - VPS33B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/? 2 c.151C>A r.(?) p.(=) - VUS g.91561061G>T g.91017831G>T - - VPS33B_000035 - - - rs11542638 Unknown - 0.082 - 0 - Paul Gissen
+/+ 2 c.151C>T r.(?) p.(Arg51*) - pathogenic g.91561061G>A g.91017831G>A - - VPS33B_000002 - PubMed: Gissen 2006 - - Unknown - - - 0 - Paul Gissen
?/? 2 c.165C>T r.(?) p.(=) - VUS g.91561047G>A g.91017817G>A - - VPS33B_000036 - - - rs146446468 Unknown - - - 0 - Paul Gissen
?/? 2 c.174G>A r.(?) p.(=) - VUS g.91561038C>T g.91017808C>T - - VPS33B_000037 - - - rs145292016 Unknown - - - 0 - Paul Gissen
+/+ 2i c.177+1G>A r.spl? p.? - pathogenic g.91561034C>T g.91017804C>T - - VPS33B_000011 - PubMed: Gissen 2004 - - Unknown - - - 0 - Paul Gissen
?/? 2i c.177+175C>G r.(=) p.(=) - VUS g.91560860G>C g.91017630G>C - - VPS33B_000185 - - - rs7179329 Unknown - 0.106 - 0 - Paul Gissen
?/? 2i c.177+327dup r.(=) p.(=) - VUS g.91560709dup g.91017479dup c.177+325_177+326insG - VPS33B_000123 - - - rs5814456 Unknown - - - 0 - Paul Gissen
?/? 2i c.177+381_177+382insTATAT r.(=) p.(=) - VUS g.91560653_91560654insATATA g.91017423_91017424insATATA - - VPS33B_000125 - - - rs3080463 Unknown - - - 0 - Paul Gissen
?/? 2i c.178-375del r.(=) p.(=) - VUS g.91560629del g.91017399del - - VPS33B_000089 - - - rs58767763 Unknown - - - 0 - Paul Gissen
?/? 2i c.178-373del r.(=) p.(=) - VUS g.91560627del g.91017397del - - VPS33B_000093 - - - rs57840208 Unknown - - - 0 - Paul Gissen
?/? 2i c.178-353del r.(=) p.(=) - VUS g.91560607del g.91017377del - - VPS33B_000119 - - - rs11314057 Unknown - - - 0 - Paul Gissen
?/? 2i c.178-352T>A r.(=) p.(=) - VUS g.91560606A>T g.91017376A>T - - VPS33B_000149 - - - rs28526303 Unknown - - - 0 - Paul Gissen
?/? 2i c.178-349_178-344dup r.(=) p.(=) - VUS g.91560648_91560653dup g.91017418_91017423dup - - VPS33B_000104 - - - rs36212263 Unknown - - - 0 - Paul Gissen
?/? 2i c.178-341A>T r.(=) p.(=) - VUS g.91560595T>A g.91017365T>A - - VPS33B_000152 - - - rs28464480 Unknown - - - 0 - Paul Gissen
?/? 2i c.178-113C>A r.(=) p.(=) - VUS g.91560367G>T g.91017137G>T - - VPS33B_000170 - - - rs11857433 Unknown - 0.0197 - 0 - Paul Gissen
+/+ 2i c.178-2A>C r.spl? p.? - pathogenic g.91560256T>G g.91017026T>G - - VPS33B_000231 - - - - Unknown - - - 0 - Paul Gissen
+/+ 2i c.178-1G>C r.spl? p.? - pathogenic g.91560255C>G g.91017025C>G - - VPS33B_000224 - - - - Unknown - - - 0 - Paul Gissen
+/+ 2i c.178-1G>C r.spl? p.? - pathogenic g.91560255C>G g.91017025C>G - - VPS33B_000224 - - - - Unknown - - - 0 - Paul Gissen
+/+ 2i c.178-1G>C r.spl? p.? - pathogenic g.91560255C>G g.91017025C>G - - VPS33B_000224 - - - - Unknown - - - 0 - Paul Gissen
-?/-? 3 c.183C>A r.(?) p.(His61Gln) - likely benign g.91560249G>T g.91017019G>T - - VPS33B_000217 - - - - Unknown - - - 0 - Paul Gissen
-?/-? 3i c.239+5G>A r.spl? p.? - likely benign g.91560188C>T g.91016958C>T - - VPS33B_000216 - - - - Unknown - - - 0 - Paul Gissen
?/? 3i c.239+15G>A r.(=) p.(=) - VUS g.91560178C>T g.91016948C>T - - VPS33B_000167 - - - rs12102085 Unknown - - - 0 - Paul Gissen
?/? 3i c.239+85G>A r.(=) p.(=) - VUS g.91560108C>T g.91016878C>T - - VPS33B_000168 - - - rs12102082 Unknown - - - 0 - Paul Gissen
?/? 3i c.239+115A>G r.(=) p.(=) - VUS g.91560078T>C g.91016848T>C - - VPS33B_000207 - - - rs873130 Unknown - 0.0424 - 0 - Paul Gissen
?/? 3i c.239+272T>C r.(=) p.(=) - VUS g.91559921A>G g.91016691A>G - - VPS33B_000202 - - - rs2892068 Unknown - - - 0 - Paul Gissen
?/? 3i c.239+393C>T r.(=) p.(=) - VUS g.91559800G>A g.91016570G>A - - VPS33B_000156 - - - rs12907802 Unknown - - - 0 - Paul Gissen
?/? 3i c.239+587A>G r.(=) p.(=) - VUS g.91559606T>C g.91016376T>C - - VPS33B_000143 - - - rs35584309 Unknown - - - 0 - Paul Gissen
?/? 3i c.240-1156A>G r.(=) p.(=) - VUS g.91558819T>C g.91015589T>C - - VPS33B_000188 - - - rs7173457 Unknown - - - 0 - Paul Gissen
?/? 3i c.240-907T>A r.(=) p.(=) - VUS g.91558570A>T g.91015340A>T - - VPS33B_000162 - - - rs12438273 Unknown - 0.0671 - 0 - Paul Gissen
?/? 3i c.240-794C>T r.(=) p.(=) - VUS g.91558457G>A g.91015227G>A - - VPS33B_000183 - - - rs7183740 Unknown - 0.159 - 0 - Paul Gissen
?/? 3i c.240-617G>T r.(=) p.(=) - VUS g.91558280C>A g.91015050C>A - - VPS33B_000182 - - - rs8023961 Unknown - 0.0989 - 0 - Paul Gissen
+/+ ? c.240-577_290-156del r.? p.(Leu81Serfs*5) - pathogenic g.91557258_91558241del g.91014028_91015011del - - VPS33B_000232 - - - - Unknown - - - 0 - Paul Gissen
-/. - c.240-13_240-12del r.(=) p.(=) - benign g.91557676_91557677del g.91014446_91014447del VPS33B(NM_018668.4):c.240-13_240-12delTT - VPS33B_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.240-13_240-12del r.(=) p.(=) - benign g.91557676_91557677del g.91014446_91014447del VPS33B(NM_018668.4):c.240-13_240-12delTT - VPS33B_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 3i c.240-1G>C r.spl? p.? - pathogenic g.91557664C>G g.91014434C>G - - VPS33B_000233 - - - - Unknown - - - 0 - Paul Gissen
+/+ 4 c.277C>T r.(?) p.(Arg93*) - pathogenic g.91557626G>A g.91014396G>A - - VPS33B_000003 - PubMed: Gissen 2006 - - Unknown - - - 0 - Paul Gissen
+/+ 4 c.277C>T r.(?) p.(Arg93*) - pathogenic g.91557626G>A g.91014396G>A - - VPS33B_000003 - - - - Unknown - - - 0 - Paul Gissen
?/? 4i c.289+160_289+164del r.(=) p.(=) - VUS g.91557468_91557472del g.91014238_91014242del c.289+142_289+146del - VPS33B_000085 - - - rs61232231 Unknown - - - 0 - Paul Gissen
?/? 4i c.290-213A>C r.(=) p.(=) - VUS g.91557314T>G g.91014084T>G - - VPS33B_000172 - - - rs11639488 Unknown - - - 0 - Paul Gissen
?/? 4i c.290-193T>G r.(=) p.(=) - VUS g.91557294A>C g.91014064A>C - - VPS33B_000133 - - - rs58556244 Unknown - - - 0 - Paul Gissen
?/? 4i c.290-85G>A r.(=) p.(=) - VUS g.91557186C>T g.91013956C>T - - VPS33B_000203 - - - rs1972926 Unknown - 0.193 - 0 - Paul Gissen
?/? 5 c.291T>A r.(?) p.(Ser97Arg) - VUS g.91557100A>T g.91013870A>T - - VPS33B_000038 - - - rs140229088 Unknown - - - 0 - Paul Gissen
+/+ 5 c.319C>T r.(?) p.(Arg107*) - pathogenic g.91557072G>A g.91013842G>A - - VPS33B_000004 - PubMed: Gissen 2006 - - Unknown - - - 0 - Paul Gissen
+/+ 5 c.350del r.(?) p.(Pro117Leufs*20) - pathogenic g.91557043del g.91013813del - - VPS33B_000023 - PubMed: Gissen 2004 - - Unknown - - - 0 - Paul Gissen
+/+ 5 c.352C>T r.(?) p.(Gln118*) - pathogenic g.91557039G>A g.91013809G>A - - VPS33B_000005 - PubMed: Cullinane 2009 - - Unknown - - - 0 - Paul Gissen
-?/. - c.357G>A r.(?) p.(Lys119=) - likely benign g.91557034C>T g.91013804C>T VPS33B(NM_018668.3):c.357G>A (p.(=)), VPS33B(NM_018668.4):c.357G>A (p.K119=) - VPS33B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.357G>A r.(?) p.(Lys119=) - likely benign g.91557034C>T g.91013804C>T VPS33B(NM_018668.3):c.357G>A (p.(=)), VPS33B(NM_018668.4):c.357G>A (p.K119=) - VPS33B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? 5 c.357G>A r.(?) p.(=) - VUS g.91557034C>T g.91013804C>T - - VPS33B_000039 - - - rs146758743 Unknown - - - 0 - Paul Gissen
?/? 5i c.357+94del r.(=) p.(=) - VUS g.91556940del g.91013710del - - VPS33B_000086 - - - rs61015089 Unknown - - - 0 - Paul Gissen
?/? 5i c.357+386dup r.(=) p.(=) - VUS g.91556650dup g.91013420dup c.357+386_357+387insC - VPS33B_000097 - - - rs35635346 Unknown - - - 0 - Paul Gissen
?/? 5i c.357+407del r.(=) p.(=) - VUS g.91556628del g.91013398del - - VPS33B_000111 - - - rs34467714 Unknown - - - 0 - Paul Gissen
?/? 5i c.357+1126C>T r.(=) p.(=) - VUS g.91555908G>A g.91012678G>A - - VPS33B_000130 - - - rs59435770 Unknown - - - 0 - Paul Gissen
?/? 5i c.357+1701T>G r.(=) p.(=) - VUS g.91555333A>C g.91012103A>C - - VPS33B_000135 - - - rs57967757 Unknown - - - 0 - Paul Gissen
?/? 5i c.357+1714dup r.(=) p.(=) - VUS g.91555320dup g.91012090dup c.357+1714_357+1715insA - VPS33B_000098 - - - rs35595021 Unknown - - - 0 - Paul Gissen
?/? 5i c.357+1718dup r.(=) p.(=) - VUS g.91555318dup g.91012088dup c.357+1715_357+1716insA - VPS33B_000117 - - - rs11430036 Unknown - - - 0 - Paul Gissen
?/? 5i c.357+1718dup r.(=) p.(=) - VUS g.91555318dup g.91012088dup c.357+1718_357+1719insA - VPS33B_000095 - - - rs35947082 Unknown - - - 0 - Paul Gissen
?/? 5i c.357+1747T>C r.(=) p.(=) - VUS g.91555287A>G g.91012057A>G - - VPS33B_000165 - - - rs12148592 Unknown - 0.0952 - 0 - Paul Gissen
?/? 5i c.357+1809_357+1813del r.(=) p.(=) - VUS g.91555248_91555252del g.91012018_91012022del c.357+1782_357+1786del - VPS33B_000090 - - - rs58411752 Unknown - - - 0 - Paul Gissen
?/? 5i c.357+1809_357+1813dup r.(=) p.(=) - VUS g.91555248_91555252dup g.91012018_91012022dup - - VPS33B_000091 - - - rs58230462 Unknown - - - 0 - Paul Gissen
?/? 5i c.358-1778A>G r.(=) p.(=) - VUS g.91554854T>C g.91011624T>C - - VPS33B_000148 - - - rs34734460 Unknown - 0.0917 - 0 - Paul Gissen
?/? 5i c.358-1452A>G r.(=) p.(=) - VUS g.91554528T>C g.91011298T>C - - VPS33B_000128 - - - rs60112465 Unknown - - - 0 - Paul Gissen
?/? 5i c.358-1396A>T r.(=) p.(=) - VUS g.91554472T>A g.91011242T>A - - VPS33B_000132 - - - rs61497411 Unknown - - - 0 - Paul Gissen
?/? 5i c.358-1349A>C r.(=) p.(=) - VUS g.91554425T>G g.91011195T>G - - VPS33B_000176 - - - rs10775251 Unknown - 0.35 - 0 - Paul Gissen
?/? 5i c.358-1122G>T r.(=) p.(=) - VUS g.91554198C>A g.91010968C>A - - VPS33B_000164 - - - rs12148648 Unknown - 0.103 - 0 - Paul Gissen
?/? 5i c.358-878A>G r.(=) p.(=) - VUS g.91553954T>C g.91010724T>C - - VPS33B_000139 - - - rs56838761 Unknown - 0.0548 - 0 - Paul Gissen
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