NM_004523.4(KIF11):c.2178_2181del (p.Met726fs)Pathogenic
not provided
β
β
ββ2025β Residue 726
NM_004523.4(KIF11):c.157C>T (p.Arg53Ter)Pathogenic
not provided|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
β
β
ββ2025β Residue 53
NM_004523.4(KIF11):c.308+1G>APathogenic
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|not provided|Inborn genetic diseases
β
β
ββ2025
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)Pathogenic
not specified|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|not provided|Malignant tumor of urinary bladder
β
β
ββ2025β Residue 974
NM_004523.4(KIF11):c.139C>T (p.Arg47Ter)Pathogenic
not provided|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|Retinal dystrophy
β
β
ββ2025β Residue 47
NM_004523.4(KIF11):c.2T>C (p.Met1Thr)Pathogenic
not provided
β
β
ββ2025β Residue 1
NM_004523.4(KIF11):c.388-1G>CPathogenic
not provided|KIF11-related disorder
β
β
ββ2025
NM_004523.4(KIF11):c.2402_2403del (p.His800_Ser801insTer)Pathogenic
not provided|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
β
β
ββ2025β Residue 800
NM_004523.4(KIF11):c.436A>T (p.Lys146Ter)Pathogenic
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|not provided
β
β
ββ2025β Residue 146
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)Pathogenic
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|Microcephaly and chorioretinopathy 1|not provided
β
β
ββ2024β Residue 838
NM_004523.4(KIF11):c.790-1G>TPathogenic
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID)|not provided
β
β
ββ2024
NM_004523.4(KIF11):c.247C>T (p.Arg83Ter)Pathogenic
not provided|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
β
β
ββ2024β Residue 83
NM_004523.4(KIF11):c.439del (p.Thr148fs)Pathogenic
not provided
β
β
ββ2024β Residue 148
NM_004523.4(KIF11):c.2263C>T (p.Gln755Ter)Pathogenic
not provided
β
β
ββ2024β Residue 755
NM_004523.4(KIF11):c.2697_2700del (p.Asn899fs)Pathogenic
Inborn genetic diseases|not provided
β
β
ββ2024β Residue 899
NM_004523.4(KIF11):c.2230C>T (p.Gln744Ter)Pathogenic
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|not provided
β
β
ββ2024β Residue 744
NM_004523.4(KIF11):c.2158C>T (p.Gln720Ter)Pathogenic
not provided
β
β
ββ2024β Residue 720
NM_004523.4(KIF11):c.2304_2305del (p.His768fs)Pathogenic
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|not provided
β
β
ββ2024β Residue 768
NM_004523.4(KIF11):c.2161-1G>APathogenic
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|not provided
β
β
ββ2023
NM_004523.4(KIF11):c.2312_2313del (p.Lys771fs)Pathogenic
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
β
β
ββ2023β Residue 771