U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 94

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF11
Single nucleotide variant
(splice acceptor variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(I101fs)
Deletion
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(V178L)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GUncertain significance
KIF11
Single nucleotide variant
(intron variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GUncertain significance
KIF11
(D975fs)
Duplication
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
Single nucleotide variant
(splice donor variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
Single nucleotide variant
(intron variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GUncertain significance
KIF11
(D494N)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GUncertain significance
KIF11
(T885N)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GUncertain significance
KIF11
(G790A)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GUncertain significance
KIF11
(V627I)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GUncertain significance
KIF11
(I902V)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GUncertain significance
KIF11
(Q321*)
Single nucleotide variant
(nonsense)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(L30*)
Single nucleotide variant
(nonsense)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
Single nucleotide variant
(intron variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
+1 more
GUncertain significance
KIF11
(V85fs)
Indel
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(K315fs)
Deletion
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(Q770*)
Single nucleotide variant
(nonsense)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(N684*)
Duplication
(nonsense)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
Single nucleotide variant
(splice acceptor variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(E505fs)
Deletion
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
Single nucleotide variant
(splice acceptor variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
Single nucleotide variant
(splice acceptor variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
Deletion
(nonsense)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(V158fs)
Deletion
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(H768fs)
Microsatellite
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(E814fs)
Insertion
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(K520R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF11
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
KIF11
(L697V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF11
(T126fs)
Duplication
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
Single nucleotide variant
(splice donor variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(H141L)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
Deletion
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(L608P)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GUncertain significance
KIF11
Deletion
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(R312*)
Single nucleotide variant
(nonsense)
Neurodevelopmental delay
+2 more
GPathogenic/Likely pathogenic
KIF11
(R53*)
Single nucleotide variant
(nonsense)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
+1 more
GPathogenic
KIF11
(D760V)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GUncertain significance
KIF11
Single nucleotide variant
(splice acceptor variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
+1 more
GPathogenic/Likely pathogenic
KIF11
(S51G)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GUncertain significance
KIF11
(D44G)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GUncertain significance
KIF11
(I299V)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(N527I)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(I196fs)
Deletion
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(N838fs)
Deletion
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
Single nucleotide variant
(splice acceptor variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(E849*)
Single nucleotide variant
(nonsense)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(D177fs)
Deletion
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
KIF11
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
KIF11
(E820*)
Single nucleotide variant
(nonsense)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(T65A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
KIF11
(K771fs)
Deletion
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF11
(H946Y)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KIF11
(G117C)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GUncertain significance
KIF11
(L160fs)
Microsatellite
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(W127*)
Single nucleotide variant
(nonsense)
Syndromic retinitis pigmentosa
+1 more
GPathogenic/Likely pathogenic
KIF11
Single nucleotide variant
(splice donor variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(Q928*)
Single nucleotide variant
(nonsense)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(H526Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
KIF11
(A373fs)
Duplication
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(M545T)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(R327H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KIF11
(S992fs)
Duplication
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(R47*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
KIF11
(Q744*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
KIF11
(E432del)
Microsatellite
(inframe_deletion)
not provided
GConflicting classifications of pathogenicity
KIF11
(Q290*)
Single nucleotide variant
(nonsense)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
KIF11
Single nucleotide variant
(splice acceptor variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
Single nucleotide variant
(splice donor variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(H687fs)
Deletion
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KIF11
(M559I)
Single nucleotide variant
(missense variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
+2 more
GUncertain significance
KIF11
(H38fs)
Deletion
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(R83*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
KIF11
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
KIF11
(Q781*)
Single nucleotide variant
(nonsense)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(H718L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
KIF11
(L1042F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
KIF11
Deletion
(splice acceptor variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(K146*)
Single nucleotide variant
(nonsense)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(M1fs)
Indel
(frameshift variant +1 more)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
Single nucleotide variant
(splice acceptor variant)
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID)
GPathogenic
KIF11
(E470*)
Single nucleotide variant
(nonsense)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
Single nucleotide variant
(splice acceptor variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(F767fs)
Deletion
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(S235C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF11
Single nucleotide variant
(splice donor variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(Q531fs)
Deletion
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
KIF11
(R944C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KIF11
(L347fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
KIF11
(R387*)
Single nucleotide variant
(nonsense)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GPathogenic
Format
Items per page
Sort by
Choose Destination