Variant | Impact | Inheritance pattern | Summary | Genomes |
---|---|---|---|---|
VPS13B W31L | insufficiently evaluated none | unknown | ||
VPS13B E363K | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS18537-1100-36-ASM | |
VPS13B H376D | insufficiently evaluated not reviewed | unknown | ||
VPS13B Y413X | uncertain benign | unknown | This common allele is found in the VPS13B gene, a.k.a. COH1. There are several splice variants for this gene, and the majority (which form full length proteins) treat this region as intronic. The splice variant terminates very closely downstream to this variant in the reference genome — the variant product is only three amino acids shorter. We conclude this variant is a benign polymorphism. | hu728FFF build 36 substitution variants (hom) |
VPS13B Y609H | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS18942-1100-36-ASM | |
VPS13B S750G | insufficiently evaluated not reviewed | unknown | ||
VPS13B A829T | insufficiently evaluated none, f=0.009 | unknown | var-GS19648-1100-36-ASM | |
VPS13B P968R | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS18501-1100-36-ASM | |
VPS13B R974T | insufficiently evaluated not reviewed, f=0.008 | unknown | CGI sample GS00253-DNA_D01_200_37 | |
VPS13B Q1074X | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS18558-1100-36-ASM | |
VPS13B G1127W | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS18947-1100-36-ASM | |
VPS13B P1138L | insufficiently evaluated none, f=0.009 | unknown | var-GS18517-1100-36-ASM | |
VPS13B H1382Q | insufficiently evaluated none | unknown | ||
VPS13B R1416Q | insufficiently evaluated not reviewed, f=0.023 | unknown | var-GS19020-1100-36-ASM | |
var-GS19700-1100-36-ASM | ||||
var-GS18501-1100-36-ASM | ||||
VPS13B L1738V | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS18942-1100-36-ASM | |
VPS13B T1921A | insufficiently evaluated not reviewed | unknown | ||
VPS13B T1946A | insufficiently evaluated not reviewed | unknown | ||
VPS13B G2248D | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS19020-1100-36-ASM | |
VPS13B A2343G | insufficiently evaluated not reviewed | unknown | CGI sample GS00253-DNA_C01_200_37 | |
VPS13B R2351Q | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS19026-1100-36-ASM | |
VPS13B W2474Shift | pathogenic, f=0.008 | recessive | This variant is a one base deletion predicted to cause a frameshift in VPS13B. Other loss of function variants in this gene are reported to cause Cohen syndrome in a recessive manner, a rare genetic disorder causing obesity, mental retardation and craniofacial dysmorphism. This variant would be predicted to have the same effect if homozygous or compound heterozygous with another disruptive variant. | |
VPS13B V2559A | insufficiently evaluated none, f=0.097 | unknown | CGI sample GS01175-DNA_G03 from PGP sample 92527586 | |
CGI sample GS01669-DNA_F02 from PGP sample 40767107 | ||||
CGI sample GS01173-DNA_H06 from PGP sample 91708424 | ||||
CGI sample GS01669-DNA_B03 from PGP sample 14427241 | ||||
CGI sample GS00253-DNA_B02_200_37 | ||||
CGI sample GS01175-DNA_B01 from PGP sample 86206034 | ||||
VPS13B E2560K | insufficiently evaluated not reviewed, f=0.003 | unknown | CGI sample GS00253-DNA_F01_200_37 | |
VPS13B V2584A | insufficiently evaluated none, f=0.109 | unknown | var-GS19025-1100-36-ASM | |
var-GS19735-1100-36-ASM | ||||
hu232307 build 36 substitution variants | ||||
var-GS19701-1100-36-ASM (hom) | ||||
var-GS21767-1100-36-ASM | ||||
var-GS19704-1100-36-ASM | ||||
var-GS19129-1100-36-ASM | ||||
var-GS19240-1100-36-ASM | ||||
var-GS19238-1100-36-ASM | ||||
var-GS19670-1100-36-ASM | ||||
var-GS18508-1100-36-ASM | ||||
var-GS19026-1100-36-ASM (hom) | ||||
VPS13B E2585K | insufficiently evaluated not reviewed, f=0.008 | unknown | ||
VPS13B D2595N | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS18508-1100-36-ASM | |
VPS13B L2633Shift | insufficiently evaluated not reviewed | unknown | CGI sample GS01669-DNA_F02 from PGP sample 40767107 | |
VPS13B N2968S | pathogenic | recessive | According to Kolehmainen, et al 2004 this was seen homozygously in a pair of siblings from a family with Cohen syndrome, in a screen of 76 patients from 59 families. | |
VPS13B S3117G | insufficiently evaluated not reviewed, f=0.004 | unknown | CGI sample GS00253-DNA_F01_200_37 | |
CGI sample GS00253-DNA_H01_200_37 | ||||
VPS13B S3142G | insufficiently evaluated not reviewed, f=0.023 | unknown | ||
VPS13B R3198W | insufficiently evaluated not reviewed | unknown | CGI sample GS01669-DNA_C05 from PGP sample 42408046 | |
VPS13B T3350I | insufficiently evaluated not reviewed | unknown | CGI sample GS01173-DNA_B02 from PGP sample 94378523 | |
CGI sample GS01173-DNA_B07 from PGP sample 61499538 | ||||
VPS13B N3351I | insufficiently evaluated not reviewed, f=0.002 | unknown | ||
VPS13B N3376I | insufficiently evaluated not reviewed | unknown | ||
VPS13B K3381T | insufficiently evaluated not reviewed | unknown | ||
VPS13B K3406T | insufficiently evaluated not reviewed | unknown | ||
VPS13B G3407R | insufficiently evaluated not reviewed, f=0.121 | unknown | CGI sample GS01669-DNA_C07 from PGP sample 74521372 | |
CGI sample GS01175-DNA_H01 from PGP sample 94797469 | ||||
hu34D5B9 exome | ||||
CGI sample GS01173-DNA_F02 from PGP sample 70008981 | ||||
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) | ||||
CGI sample GS00253-DNA_A01_200_37 | ||||
CGI sample GS01669-DNA_B05 from PGP sample 86486261 | ||||
CGI sample GS01669-DNA_H05 from PGP sample 10971581 | ||||
CGI sample GS01175-DNA_D05 from PGP sample 1205491 | ||||
CGI sample GS01175-DNA_B01 from PGP sample 86206034 | ||||
CGI sample GS00253-DNA_D01_200_37 | ||||
CGI sample GS00253-DNA_H01_200_37 | ||||
CGI sample GS01175-DNA_B04 from PGP sample 88590671 | ||||
hu728FFF build 36 substitution variants | ||||
VPS13B A3412V | insufficiently evaluated not reviewed, f=0.004 | unknown | ||
VPS13B A3413S | insufficiently evaluated none | unknown | ||
VPS13B G3432R | insufficiently evaluated not reviewed, f=0.117 | unknown | hu3215A7 build 36 substitution variants (hom) | |
var-GS18504-1100-36-ASM | ||||
var-GS18558-1100-36-ASM | ||||
hu232307 build 36 substitution variants | ||||
var-GS12004-1100-36-ASM | ||||
var-GS19649-1100-36-ASM | ||||
var-GS18555-1100-36-ASM | ||||
hu728FFF build 36 substitution variants | ||||
var-GS18505-1100-36-ASM | ||||
var-GS18508-1100-36-ASM | ||||
VPS13B A3437V | insufficiently evaluated not reviewed | unknown | ||
VPS13B A3438S | insufficiently evaluated none, f=0.008 | unknown | var-GS18956-1100-36-ASM | |
VPS13B S3489G | insufficiently evaluated not reviewed | unknown | ||
VPS13B S3514G | insufficiently evaluated not reviewed | unknown | ||
VPS13B R3561Q | insufficiently evaluated not reviewed | unknown | CGI sample GS00253-DNA_F01_200_37 | |
VPS13B R3586Q | insufficiently evaluated not reviewed, f=0.008 | unknown | ||
VPS13B A3691T | insufficiently evaluated not reviewed, f=0.004 | unknown | CGI sample GS00253-DNA_C01_200_37 | |
VPS13B R3696Q | insufficiently evaluated not reviewed | unknown | CGI sample GS00253-DNA_B02_200_37 | |
VPS13B A3716T | insufficiently evaluated not reviewed, f=0.008 | unknown | ||
VPS13B R3721Q | uncertain benign, f=0.008 | unknown | Tentatively evaluated as benign. Polyphen 2 predicts damaging, and other recessive variants in this gene cause Cohen syndrome, but these are almost always more severely disruptive nonsense, frameshift, or splicing mutations. | |
VPS13B D3746Y | insufficiently evaluated none | unknown | ||
VPS13B D3771Y | insufficiently evaluated none | unknown | ||
VPS13B Q3893QAQ | insufficiently evaluated not reviewed | unknown | CGI sample GS01173-DNA_B02 from PGP sample 94378523 | |
VPS13B I3951T | insufficiently evaluated none, f=0.000 | unknown | ||
VPS13B I3976T | insufficiently evaluated none, f=0.008 | unknown | var-GS19239-1100-36-ASM | |
var-GS19240-1100-36-ASM | ||||
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