Total 87 pathogenic variants reported for Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004523.4(KIF11):c.1159C>T (p.Arg387Ter) SNV
Germline		 Chr10:92621415 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability No Assertion Criteria Provided
 CA128629 rs_387906641

1 SubmittersRCV000022634
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys) SNV
Germline		 Chr10:92649894 Conflicting classifications of pathogenicity Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA128631 rs_387906642

5 SubmittersRCV000022636RCV000624042RCV001268907
NM_004523.4(KIF11):c.2547+2T>C SNV
Germline		 Chr10:92645644 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability No Assertion Criteria Provided
 CA213014 rs_730882063

1 SubmittersRCV000022638
NM_004523.4(KIF11):c.704C>G (p.Ser235Cys) SNV
Germline		 Chr10:92613045 Conflicting classifications of pathogenicity Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA128632 rs_387906643

3 SubmittersRCV000022639RCV002513169
NM_004523.4(KIF11):c.790-1G>A SNV
Germline		 Chr10:92613376 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability No Assertion Criteria Provided
 CA185980 rs_730882122

1 SubmittersRCV000161139
NM_004523.4(KIF11):c.1408G>T (p.Glu470Ter) SNV
Germline		 Chr10:92630278 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability No Assertion Criteria Provided
 CA200161 rs_786205900

1 SubmittersRCV000172876
NM_004523.4(KIF11):c.790-1G>T SNV
Germline		 Chr10:92613376 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID)
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602388 rs_730882122

3 SubmittersRCV000172877RCV001270814RCV005089870
NM_004523.4(KIF11):c.436A>T (p.Lys146Ter) SNV
Germline		 Chr10:92609068 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA206232 rs_797045650

2 SubmittersRCV000193017RCV005089980
NM_004523.4(KIF11):c.2341C>T (p.Gln781Ter) SNV
Germline		 Chr10:92645436 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability No Assertion Criteria Provided
 CA10654918 rs_1057516208

1 SubmittersRCV000408821
NM_004523.4(KIF11):c.77+1G>A SNV
Germline		 Chr10:92593453 Pathogenic Condition: not provided
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16605735 rs_1057524736

2 SubmittersRCV000434727RCV003225941
NM_004523.4(KIF11):c.247C>T (p.Arg83Ter) SNV
Germline		 Chr10:92606655 Pathogenic Condition: not provided
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16619080 rs_1064796738

4 SubmittersRCV000485224RCV000678377
NM_004523.4(KIF11):c.868C>T (p.Gln290Ter) SNV
Germline		 Chr10:92613455 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377590350 rs_1554859966

1 SubmittersRCV000500129
NM_004523.4(KIF11):c.2160+1G>T SNV
Germline		 Chr10:92637546 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377593548 rs_1554862218

1 SubmittersRCV000503314
NM_004523.4(KIF11):c.2548-1G>A SNV
Germline		 Chr10:92648211 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Multiple Submitters
No Conflicts
 CA377805285 rs_1554863016

2 SubmittersRCV000502364
NM_004523.4(KIF11):c.2922G>A (p.Pro974=) SNV
Germline		 Chr10:92649986 Pathogenic not specified
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Condition: not provided
Malignant tumor of urinary bladder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA470943161 rs_1554863201

7 SubmittersRCV000504431RCV000578314RCV001726201RCV005899877
NM_004523.4(KIF11):c.2230C>T (p.Gln744Ter) SNV
Germline		 Chr10:92639863 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377593733 rs_1554862427

3 SubmittersRCV000544300RCV003558442
NM_004523.4(KIF11):c.139C>T (p.Arg47Ter) SNV
Germline		 Chr10:92606326 Pathogenic/Likely pathogenic Condition: not provided
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377587806 rs_1227480400

6 SubmittersRCV000578602RCV001255733RCV004817776
NM_004523.4(KIF11):c.980G>A (p.Arg327His) SNV
Germline		 Chr10:92613567 Conflicting classifications of pathogenicity Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Condition: not provided
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5604088 rs_746977730

4 SubmittersRCV000723331RCV001367340RCV005056481RCV004026931
NM_004523.4(KIF11):c.1634T>C (p.Met545Thr) SNV
Germline		 Chr10:92632625 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377592350 rs_1564713037

1 SubmittersRCV000825016
NM_004523.4(KIF11):c.2782C>T (p.Gln928Ter) SNV
Germline		 Chr10:92649846 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Multiple Submitters
No Conflicts
 CA377805916 rs_1589608594

2 SubmittersRCV000988434
NM_004523.4(KIF11):c.1305+1G>A SNV
Germline		 Chr10:92628896 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377591558 rs_1589600695

1 SubmittersRCV000995792
NM_004523.4(KIF11):c.381G>A (p.Trp127Ter) SNV
Germline		 Chr10:92607231 Pathogenic/Likely pathogenic Syndromic retinitis pigmentosa
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability		 No Assertion Criteria Provided
 CA377589054 rs_1589590737

2 SubmittersRCV001003069RCV001030780
NM_004523.4(KIF11):c.193A>G (p.Thr65Ala) SNV
Germline		 Chr10:92606380 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
not specified
Inborn genetic diseases
Optic atrophy
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA5603922 rs_200410468

7 SubmittersRCV001237555RCV001331252RCV001819934RCV002563892RCV004813964RCV004813963
NM_004523.4(KIF11):c.1A>G (p.Met1Val) SNV
Germline		 Chr10:92593376 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Condition: not provided		 Criteria Provided
Single Submitter
 CA377585489 rs_2492454012

2 SubmittersRCV001255743RCV001377705
NM_004523.4(KIF11):c.2458G>T (p.Glu820Ter) SNV
Unknown		 Chr10:92645553 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability No Assertion Criteria Provided
 CA377594282 rs_2492536798

1 SubmittersRCV001255729
NM_004523.4(KIF11):c.2545G>T (p.Glu849Ter) SNV
Unknown		 Chr10:92645640 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability No Assertion Criteria Provided
 CA377594485 rs_2492536937

1 SubmittersRCV001255829
NM_004523.4(KIF11):c.308+1G>A SNV
Germline		 Chr10:92606717 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5603965 rs_527562872

4 SubmittersRCV001255779RCV001879940RCV005582644
NM_004523.4(KIF11):c.2268-1G>A SNV
Unknown		 Chr10:92645362 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability No Assertion Criteria Provided
 CA377593830 rs_2492536331

1 SubmittersRCV001255834
NM_004523.4(KIF11):c.1580A>T (p.Asn527Ile) SNV
Germline		 Chr10:92632571 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377592222 rs_1844750166

1 SubmittersRCV001261950
NM_004523.4(KIF11):c.2018A>T (p.Lys673Met) SNV
Germline		 Chr10:92637403 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA377593232 rs_1235363221

3 SubmittersRCV001366660RCV004799561RCV005367808
NM_004523.4(KIF11):c.895A>G (p.Ile299Val) SNV
Germline		 Chr10:92613482 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability No Assertion Criteria Provided
 CA377590407 rs_1844517913

1 SubmittersRCV001283810
NM_004523.4(KIF11):c.2161-1G>A SNV
Germline		 Chr10:92639793 Pathogenic/Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377593557 rs_1844845643

2 SubmittersRCV001331253RCV003546702
NM_004523.4(KIF11):c.157C>T (p.Arg53Ter) SNV
Germline		 Chr10:92606344 Pathogenic Condition: not provided
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377587845 rs_2135900558

3 SubmittersRCV001382096RCV003314007
NM_004523.4(KIF11):c.934C>T (p.Arg312Ter) SNV
Germline		 Chr10:92613521 Pathogenic/Likely pathogenic Condition: not provided
Neurodevelopmental delay
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377590491 rs_2135905068

3 SubmittersRCV001389722RCV002274195RCV003485716
NM_004523.4(KIF11):c.422A>T (p.His141Leu) SNV
Germline		 Chr10:92609054 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377589291 rs_1844462612

1 SubmittersRCV001775280
NM_004523.4(KIF11):c.789+1G>T SNV
Unknown		 Chr10:92613131 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377590167 rs_2135904919

1 SubmittersRCV001823032
NM_004523.4(KIF11):c.2635A>G (p.Ile879Val) SNV
Germline		 Chr10:92648299 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability		 Criteria Provided
Conflicting Classifications
 CA5604433 rs_752393043

2 SubmittersRCV002027921RCV005863656
NM_004523.4(KIF11):c.2089T>G (p.Leu697Val) SNV
Germline		 Chr10:92637474 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability		 Criteria Provided
Conflicting Classifications
 CA5604327 rs_781259791

2 SubmittersRCV001916899RCV002507580
NM_004523.4(KIF11):c.699-1G>C SNV
Germline		 Chr10:92613039 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377589957 rs_2135904871

1 SubmittersRCV002273123
NM_004523.4(KIF11):c.2771-1G>C SNV
Germline		 Chr10:92649834 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377805893 rs_2135925601

1 SubmittersRCV002273127
NM_004523.4(KIF11):c.1703-1G>A SNV
Germline		 Chr10:92633622 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377592522 rs_2492520861

1 SubmittersRCV002289094
NM_004523.4(KIF11):c.2308C>T (p.Gln770Ter) SNV
Germline		 Chr10:92645403 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377593930 rs_1472205853

1 SubmittersRCV002466878
NM_004523.4(KIF11):c.89T>A (p.Leu30Ter) SNV
Germline		 Chr10:92606276 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377587695 rs_2492475559

1 SubmittersRCV002789990
NM_004523.4(KIF11):c.961C>T (p.Gln321Ter) SNV
Germline		 Chr10:92613548 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377590548 rs_2492490361

1 SubmittersRCV002789991
NM_004523.4(KIF11):c.2267+1G>A SNV
Germline		 Chr10:92639901 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377593821 rs_2492528918

1 SubmittersRCV003226073
NM_004523.4(KIF11):c.574-2A>G SNV
Germline		 Chr10:92609383 Pathogenic/Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377589653 rs_2492482259

2 SubmittersRCV003494079RCV004723340
NM_004523.4(KIF11):c.1345C>T (p.Gln449Ter) SNV
Germline		 Chr10:92630215 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377591666 rs_2492515124

1 SubmittersRCV003986048
NM_004523.4(KIF11):c.1235T>G (p.Leu412Ter) SNV
Germline		 Chr10:92628825 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter
 CA377591398 rs_2492512589

1 SubmittersRCV003988930
NM_004523.4(KIF11):c.634C>T (p.Gln212Ter) SNV
Germline		 Chr10:92609445 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter

1 SubmittersRCV004797142
NM_004523.4(KIF11):c.2687T>C (p.Leu896Pro) SNV
Germline		 Chr10:92648351 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter

1 SubmittersRCV005636488
NM_004523.4(KIF11):c.1864C>T (p.Gln622Ter) SNV
Germline		 Chr10:92633784 Pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability No Assertion Criteria Provided

1 SubmittersRCV005637893
NM_004523.4(KIF11):c.547C>T (p.Gln183Ter) SNV
Germline		 Chr10:92609179 Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Criteria Provided
Single Submitter

1 SubmittersRCV006449405