| - GRCh37:
- Chr10:94393556
- GRCh38:
- Chr10:92633799
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Uncertain significance
(Apr 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94390107
- GRCh38:
- Chr10:92630350
| KIF11 | D494N | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Uncertain significance
(Nov 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94408075
- GRCh38:
- Chr10:92648318
| KIF11 | T885N | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Uncertain significance
(Feb 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94405221
- GRCh38:
- Chr10:92645464
| KIF11 | G790A | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Uncertain significance
(Jul 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94396944
- GRCh38:
- Chr10:92637187
| KIF11 | V627I | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Uncertain significance
(May 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94408125
- GRCh38:
- Chr10:92648368
| KIF11 | I902V | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Uncertain significance
(Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94373305
- GRCh38:
- Chr10:92613548
| KIF11 | Q321* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Jan 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94366033
- GRCh38:
- Chr10:92606276
| KIF11 | L30* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Jan 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94366418-94366425
- GRCh38:
- Chr10:92606661-92606668
| KIF11 | V85fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94373289-94373290
- GRCh38:
- Chr10:92613532-92613533
| KIF11 | K315fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Dec 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94405160
- GRCh38:
- Chr10:92645403
| KIF11 | Q770* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94397190-94397191
- GRCh38:
- Chr10:92637433-92637434
| KIF11 | N684* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Jul 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94393379
- GRCh38:
- Chr10:92633622
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94392259-94392262
- GRCh38:
- Chr10:92632502-92632505
| KIF11 | E505fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94409591
- GRCh38:
- Chr10:92649834
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94372796
- GRCh38:
- Chr10:92613039
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94405356-94405359
- GRCh38:
- Chr10:92645599-92645602
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94368862
- GRCh38:
- Chr10:92609105
| KIF11 | V158fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94405154-94405155
- GRCh38:
- Chr10:92645397-92645398
| KIF11 | H768fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94405293-94405294
- GRCh38:
- Chr10:92645536-92645537
| KIF11 | E814fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94392307
- GRCh38:
- Chr10:92632550
| KIF11 | K520R | not provided, Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Uncertain significance
(Nov 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:94390131
- GRCh38:
- Chr10:92630374
| KIF11 | | not provided, Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely benign
(Sep 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:94397231
- GRCh38:
- Chr10:92637474
| KIF11 | L697V | not provided, Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Conflicting interpretations of pathogenicity
(Jun 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:94366982-94366983
- GRCh38:
- Chr10:92607225-92607226
| KIF11 | T126fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94372888
- GRCh38:
- Chr10:92613131
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94368811
- GRCh38:
- Chr10:92609054
| KIF11 | H141L | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| | KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94393500
- GRCh38:
- Chr10:92633743
| KIF11 | L608P | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Uncertain significance
(Sep 9, 2020) | criteria provided, single submitter |
| | KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Apr 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94405131
- GRCh38:
- Chr10:92645374
| KIF11 | D760V | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Uncertain significance
(Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94399550
- GRCh38:
- Chr10:92639793
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Sep 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94366095
- GRCh38:
- Chr10:92606338
| KIF11 | S51G | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Uncertain significance
(Feb 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94366075
- GRCh38:
- Chr10:92606318
| KIF11 | D44G | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Uncertain significance
(Nov 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94373239
- GRCh38:
- Chr10:92613482
| KIF11 | I299V | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Sep 10, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr10:94392328
- GRCh38:
- Chr10:92632571
| KIF11 | N527I | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Sep 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94369152-94369155
- GRCh38:
- Chr10:92609395-92609398
| KIF11 | I196fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:94405363-94405367
- GRCh38:
- Chr10:92645606-92645610
| KIF11 | N838fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94405119
- GRCh38:
- Chr10:92645362
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:94405397
- GRCh38:
- Chr10:92645640
| KIF11 | E849* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:94368918
- GRCh38:
- Chr10:92609161
| KIF11 | D177fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:94366474
- GRCh38:
- Chr10:92606717
| KIF11 | | not provided | Pathogenic
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94353133
- GRCh38:
- Chr10:92593376
| KIF11 | M1V | not provided | Likely pathogenic
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94405310
- GRCh38:
- Chr10:92645553
| KIF11 | E820* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:94366137
- GRCh38:
- Chr10:92606380
| KIF11 | T65A | not specified, Inborn genetic diseases, not provided,
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:94405161-94405162
- GRCh38:
- Chr10:92645404-92645405
| KIF11 | K771fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Feb 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94381243-94381512
- GRCh38:
- Chr10:92621486-92621755
| KIF11 | | not provided, Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Conflicting interpretations of pathogenicity
(Feb 8, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:94409623
- GRCh38:
- Chr10:92649866
| KIF11 | Y934* | not provided, Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Nov 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:94366956
- GRCh38:
- Chr10:92607199
| KIF11 | G117C | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Uncertain significance
(May 31, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr10:94368864-94368865
- GRCh38:
- Chr10:92609107-92609108
| KIF11 | L160fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Feb 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94366988
- GRCh38:
- Chr10:92607231
| KIF11 | W127* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, Syndromic retinitis pigmentosa | Pathogenic/Likely pathogenic
(Aug 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr10:94388653
- GRCh38:
- Chr10:92628896
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Jan 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94409603
- GRCh38:
- Chr10:92649846
| KIF11 | Q928* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:94392326
- GRCh38:
- Chr10:92632569
| KIF11 | H526Q | not provided, Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:94376571-94376572
- GRCh38:
- Chr10:92616814-92616815
| KIF11 | A373fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:94392382
- GRCh38:
- Chr10:92632625
| KIF11 | M545T | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Oct 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94373324
- GRCh38:
- Chr10:92613567
| KIF11 | R327H | not provided | Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94410206-94410207
- GRCh38:
- Chr10:92650449-92650450
| KIF11 | S992fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Jan 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94366083
- GRCh38:
- Chr10:92606326
| KIF11 | R47* | not provided | Pathogenic
(Jul 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:94399620
- GRCh38:
- Chr10:92639863
| KIF11 | Q744* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Dec 19, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr10:94388635-94388637
- GRCh38:
- Chr10:92628878-92628880
| KIF11 | E432del | not provided | Conflicting interpretations of pathogenicity
(Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:94373212
- GRCh38:
- Chr10:92613455
| KIF11 | Q290* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Mar 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94409743
- GRCh38:
- Chr10:92649986
| KIF11 | | not provided, not specified, Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
| Conflicting interpretations of pathogenicity
(Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:94407968
- GRCh38:
- Chr10:92648211
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Jun 15, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:94397303
- GRCh38:
- Chr10:92637546
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Jan 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94397201
- GRCh38:
- Chr10:92637444
| KIF11 | H687fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Likely pathogenic
(Oct 12, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94392425
- GRCh38:
- Chr10:92632668
| KIF11 | M559I | not specified, not provided, Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
| Uncertain significance
(Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:94366054
- GRCh38:
- Chr10:92606297
| KIF11 | H38fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Sep 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94366412
- GRCh38:
- Chr10:92606655
| KIF11 | R83* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, not provided | Pathogenic
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:94405193
- GRCh38:
- Chr10:92645436
| KIF11 | Q781* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:94397295
- GRCh38:
- Chr10:92637538
| KIF11 | H718L | not specified, Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, not provided
| Benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:94413508
- GRCh38:
- Chr10:92653751
| KIF11 | L1042F | not provided, Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Benign/Likely benign
(Dec 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:94372790-94372803
- GRCh38:
- Chr10:92613033-92613046
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Mar 9, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94368825
- GRCh38:
- Chr10:92609068
| KIF11 | K146* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(May 28, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94353132-94353134
- GRCh38:
- Chr10:92593375-92593377
| KIF11 | M1fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Sep 24, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94373133
- GRCh38:
- Chr10:92613376
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) | Pathogenic
(May 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:94390035
- GRCh38:
- Chr10:92630278
| KIF11 | E470* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Dec 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr10:94373133
- GRCh38:
- Chr10:92613376
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Nov 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr10:94405150-94405151
- GRCh38:
- Chr10:92645393-92645394
| KIF11 | F767fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Nov 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr10:94372802
- GRCh38:
- Chr10:92613045
| KIF11 | S235C | not provided, Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:94405401
- GRCh38:
- Chr10:92645644
| KIF11 | | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Feb 10, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr10:94392340
- GRCh38:
- Chr10:92632583
| KIF11 | Q531fs | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Feb 10, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr10:94409651
- GRCh38:
- Chr10:92649894
| KIF11 | R944C | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:94376498-94376499
- GRCh38:
- Chr10:92616741-92616742
| KIF11 | L347fs | not provided | Pathogenic
(Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:94381172
- GRCh38:
- Chr10:92621415
| KIF11 | R387* | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Pathogenic
(Feb 10, 2012) | no assertion criteria provided |