3832[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1256778	NC_000010.11:g.92592748A>T	KIF11, LOC130004356	Single nucleotide variant	not provided	GBenign
Select item 1287156	NC_000010.11:g.92592861C>T	KIF11, LOC130004356	Single nucleotide variant	not provided	GBenign
Select item 1221670	NC_000010.11:g.92592979A>G	KIF11, LOC130004357	Single nucleotide variant	not provided	GBenign
Select item 1203445	NC_000010.11:g.92592990C>G	KIF11, LOC130004357	Single nucleotide variant	not provided	GLikely benign
Select item 1289364	NC_000010.11:g.92593066C>G	KIF11	Single nucleotide variant	not provided	GBenign
Select item 1279872	NM_004523.4(KIF11):c.-215A>G	KIF11	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 211271	NM_004523.4(KIF11):c.-1_2delinsAA (p.Met1fs)	KIF11 (M1fs)	Indel (frameshift variant +1 more)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 977833	NM_004523.4(KIF11):c.1A>G (p.Met1Val)	KIF11 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 488843	NM_004523.4(KIF11):c.2T>C (p.Met1Thr)	KIF11 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1993483	NM_004523.4(KIF11):c.5C>T (p.Ala2Val)	KIF11 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023296	NM_004523.4(KIF11):c.9G>A (p.Ser3=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 280235	NM_004523.4(KIF11):c.24_26delinsAG (p.Ala9fs)	KIF11 (A9fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1025300	NM_004523.4(KIF11):c.26C>G (p.Ala9Gly)	KIF11 (A9G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994064	NM_004523.4(KIF11):c.30G>A (p.Lys10=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944081	NM_004523.4(KIF11):c.41A>C (p.Glu14Ala)	KIF11 (E14A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2108932	NM_004523.4(KIF11):c.45G>A (p.Lys15=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942135	NM_004523.4(KIF11):c.69G>C (p.Val23=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1474738	NM_004523.4(KIF11):c.76A>G (p.Arg26Gly)	KIF11 (R26G)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 623749	NM_004523.4(KIF11):c.77G>T (p.Arg26Ile)	KIF11 (R26I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392999	NM_004523.4(KIF11):c.77+1G>A	KIF11	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 726756	NM_004523.4(KIF11):c.77+5G>C	KIF11	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2031712	NM_004523.4(KIF11):c.77+7A>C	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168099	NM_004523.4(KIF11):c.77+9_77+11del	KIF11	Deletion (intron variant)	not provided	GBenign
Select item 2831325	NM_004523.4(KIF11):c.77+11G>A	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534075	NM_004523.4(KIF11):c.77+18A>G	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2122606	NM_004523.4(KIF11):c.77+20G>T	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268773	NM_004523.4(KIF11):c.77+69G>T	KIF11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269001	NM_004523.4(KIF11):c.77+229T>C	KIF11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278734	NM_004523.4(KIF11):c.78-329G>A	KIF11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233031	NM_004523.4(KIF11):c.78-281A>G	KIF11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1087016	NM_004523.4(KIF11):c.78-19T>C	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1943016	NM_004523.4(KIF11):c.78-14A>G	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994032	NM_004523.4(KIF11):c.78-3T>C	KIF11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3026864	NM_004523.4(KIF11):c.78A>G (p.Arg26=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412712	NM_004523.4(KIF11):c.89T>A (p.Leu30Ter)	KIF11 (L30*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 1503363	NM_004523.4(KIF11):c.97C>T (p.Arg33Trp)	KIF11 (R33W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958847	NM_004523.4(KIF11):c.98G>A (p.Arg33Gln)	KIF11 (R33Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 952931	NM_004523.4(KIF11):c.102dup (p.Ala35fs)	KIF11 (A35fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2044828	NM_004523.4(KIF11):c.105T>C (p.Ala35=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724532	NM_004523.4(KIF11):c.108C>T (p.Ser36=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435609	NM_004523.4(KIF11):c.112del (p.His38fs)	KIF11 (H38fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 1587794	NM_004523.4(KIF11):c.114T>C (p.His38=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720818	NM_004523.4(KIF11):c.117A>G (p.Ser39=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631901	NM_004523.4(KIF11):c.118A>G (p.Ile40Val)	KIF11 (I40V)	Single nucleotide variant (missense variant)	KIF11-related disorder	GUncertain significance
Select item 861000	NM_004523.4(KIF11):c.120A>G (p.Ile40Met)	KIF11 (I40M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303619	NM_004523.4(KIF11):c.121G>C (p.Val41Leu)	KIF11 (V41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972830	NM_004523.4(KIF11):c.123A>G (p.Val41=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1029852	NM_004523.4(KIF11):c.131A>G (p.Asp44Gly)	KIF11 (D44G)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 1314900	NM_004523.4(KIF11):c.132T>A (p.Asp44Glu)	KIF11 (D44E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488844	NM_004523.4(KIF11):c.139C>T (p.Arg47Ter)	KIF11 (R47*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1042342	NM_004523.4(KIF11):c.148G>C (p.Val50Leu)	KIF11 (V50L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1029853	NM_004523.4(KIF11):c.151A>G (p.Ser51Gly)	KIF11 (S51G)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 3011547	NM_004523.4(KIF11):c.152G>A (p.Ser51Asn)	KIF11 (S51N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1070069	NM_004523.4(KIF11):c.157C>T (p.Arg53Ter)	KIF11 (R53*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability +1 more	GPathogenic
Select item 2511041	NM_004523.4(KIF11):c.164G>C (p.Gly55Ala)	KIF11 (G55A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2048221	NM_004523.4(KIF11):c.174T>C (p.Ala58=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1338318	NM_004523.4(KIF11):c.179A>T (p.Lys60Met)	KIF11 (K60M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 758991	NM_004523.4(KIF11):c.180G>A (p.Lys60=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1611358	NM_004523.4(KIF11):c.186A>G (p.Ser62=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 963518	NM_004523.4(KIF11):c.193A>G (p.Thr65Ala)	KIF11 (T65A)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability +3 more	GConflicting classifications of pathogenicity
Select item 2135586	NM_004523.4(KIF11):c.204T>C (p.Phe68=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 207836	NM_004523.4(KIF11):c.205G>A (p.Asp69Asn)	KIF11 (D69N)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 1302112	NM_004523.4(KIF11):c.206A>C (p.Asp69Ala)	KIF11 (D69A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376197	NM_004523.4(KIF11):c.209T>C (p.Met70Thr)	KIF11 (M70T)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 1522066	NM_004523.4(KIF11):c.210+4A>G	KIF11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2005488	NM_004523.4(KIF11):c.210+6A>G	KIF11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1119808	NM_004523.4(KIF11):c.210+8A>G	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1650330	NM_004523.4(KIF11):c.210+13G>T	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017729	NM_004523.4(KIF11):c.210+14C>A	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1433000	NM_004523.4(KIF11):c.210+16A>G	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195152	NM_004523.4(KIF11):c.210+59A>G	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270866	NM_004523.4(KIF11):c.211-16dup	KIF11	Duplication (intron variant)	not provided	GBenign
Select item 1208645	NM_004523.4(KIF11):c.211-17_211-16dup	KIF11	Duplication (intron variant)	not provided	GLikely benign
Select item 1955490	NM_004523.4(KIF11):c.211-14dup	KIF11	Duplication (intron variant)	not provided	GLikely benign
Select item 1091310	NM_004523.4(KIF11):c.211-16T>A	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1081213	NM_004523.4(KIF11):c.211-6C>T	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907111	NM_004523.4(KIF11):c.211-5G>A	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567966	NM_004523.4(KIF11):c.216T>C (p.Phe72=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900692	NM_004523.4(KIF11):c.220G>A (p.Ala74Thr)	KIF11 (A74T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2791045	NM_004523.4(KIF11):c.226A>G (p.Thr76Ala)	KIF11 (T76A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086578	NM_004523.4(KIF11):c.229A>G (p.Lys77Glu)	KIF11 (K77E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257437	NM_004523.4(KIF11):c.230A>G (p.Lys77Arg)	KIF11 (K77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1022603	NM_004523.4(KIF11):c.237T>G (p.Ile79Met)	KIF11 (I79M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311585	NM_004523.4(KIF11):c.238G>C (p.Asp80His)	KIF11 (D80H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466947	NM_004523.4(KIF11):c.241G>A (p.Val81Ile)	KIF11 (V81I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1086790	NM_004523.4(KIF11):c.246C>T (p.Tyr82=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 424002	NM_004523.4(KIF11):c.247C>T (p.Arg83Ter)	KIF11 (R83*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability +1 more	GPathogenic
Select item 1375217	NM_004523.4(KIF11):c.248G>A (p.Arg83Gln)	KIF11 (R83Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805660	NM_004523.4(KIF11):c.253_260delinsTTGTTCA (p.Val85fs)	KIF11 (V85fs)	Indel (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 2986069	NM_004523.4(KIF11):c.264A>G (p.Pro88=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1683885	NM_004523.4(KIF11):c.265A>T (p.Ile89Phe)	KIF11 (I89F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1043617	NM_004523.4(KIF11):c.265A>C (p.Ile89Leu)	KIF11 (I89L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489054	NM_004523.4(KIF11):c.274G>T (p.Glu92Ter)	KIF11 (E92*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1360851	NM_004523.4(KIF11):c.277G>A (p.Val93Ile)	KIF11 (V93I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691873	NM_004523.4(KIF11):c.301_302del (p.Ile101fs)	KIF11 (I101fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 1076032	NM_004523.4(KIF11):c.305_306del (p.Phe102fs)	KIF11 (F102fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 977864	NM_004523.4(KIF11):c.308+1G>A	KIF11	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1423813	NM_004523.4(KIF11):c.308+5G>A	KIF11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 999301	NM_004523.4(KIF11):c.308+6T>C	KIF11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2759388	NM_004523.4(KIF11):c.308+12G>T	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign

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