ClinVar for MedGen (Select 320559) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064390	NM_004523.4(KIF11):c.1235T>G (p.Leu412Ter)	KIF11 (L412*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 3064110	NM_004523.4(KIF11):c.489del (p.Tyr164fs)	KIF11 (Y164fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 3062326	NM_004523.4(KIF11):c.1345C>T (p.Gln449Ter)	KIF11 (Q449*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 2691882	NM_004523.4(KIF11):c.574-2A>G	KIF11	Single nucleotide variant (splice acceptor variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
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 2671791	NM_004523.4(KIF11):c.532G>C (p.Val178Leu)	KIF11 (V178L)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2582738	NM_004523.4(KIF11):c.388-6T>G	KIF11	Single nucleotide variant (intron variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2581067	NM_004523.4(KIF11):c.2921dup (p.Asp975fs)	KIF11 (D975fs)	Duplication (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 2500888	NM_004523.4(KIF11):c.2267+1G>A	KIF11	Single nucleotide variant (splice donor variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 2441929	NM_004523.4(KIF11):c.1875+4A>G	KIF11	Single nucleotide variant (intron variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2441839	NM_004523.4(KIF11):c.1480G>A (p.Asp494Asn)	KIF11 (D494N)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2441830	NM_004523.4(KIF11):c.2654C>A (p.Thr885Asn)	KIF11 (T885N)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2433120	NM_004523.4(KIF11):c.2369G>C (p.Gly790Ala)	KIF11 (G790A)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2433119	NM_004523.4(KIF11):c.1879G>A (p.Val627Ile)	KIF11 (V627I)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2433118	NM_004523.4(KIF11):c.2704A>G (p.Ile902Val)	KIF11 (I902V)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2412713	NM_004523.4(KIF11):c.961C>T (p.Gln321Ter)	KIF11 (Q321*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
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 1961840	NM_004523.4(KIF11):c.2160+5G>A	KIF11	Single nucleotide variant (intron variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability +1 more	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 1803988	NM_004523.4(KIF11):c.945_946del (p.Lys315fs)	KIF11 (K315fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 1803208	NM_004523.4(KIF11):c.2308C>T (p.Gln770Ter)	KIF11 (Q770*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 1709900	NM_004523.4(KIF11):c.2049dup (p.Asn684Ter)	KIF11 (N684*)	Duplication (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 1709279	NM_004523.4(KIF11):c.1703-1G>A	KIF11	Single nucleotide variant (splice acceptor variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 1705702	NM_004523.4(KIF11):c.1513_1516del (p.Glu505fs)	KIF11 (E505fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 1699270	NM_004523.4(KIF11):c.2771-1G>C	KIF11	Single nucleotide variant (splice acceptor variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 1699266	NM_004523.4(KIF11):c.699-1G>C	KIF11	Single nucleotide variant (splice acceptor variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 1687289	NM_004523.4(KIF11):c.2507_2510del (p.Ser835_Ser836insTer)	KIF11	Deletion (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 1687266	NM_004523.4(KIF11):c.473del (p.Val158fs)	KIF11 (V158fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 1687208	NM_004523.4(KIF11):c.2304_2305del (p.His768fs)	KIF11 (H768fs)	Microsatellite (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 1679262	NM_004523.4(KIF11):c.2441_2442insTTCTT (p.Glu814fs)	KIF11 (E814fs)	Insertion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 1473092	NM_004523.4(KIF11):c.1559A>G (p.Lys520Arg)	KIF11 (K520R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1446839	NM_004523.4(KIF11):c.1494+10T>G	KIF11	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1421399	NM_004523.4(KIF11):c.2089T>G (p.Leu697Val)	KIF11 (L697V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1343107	NM_004523.4(KIF11):c.376dup (p.Thr126fs)	KIF11 (T126fs)	Duplication (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 1338798	NM_004523.4(KIF11):c.789+1G>T	KIF11	Single nucleotide variant (splice donor variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 1320107	NM_004523.4(KIF11):c.422A>T (p.His141Leu)	KIF11 (H141L)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 1299334	NM_004523.4:c.(1217+1_1218-1)_(1494+1_1495-1)del	KIF11	Deletion	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 1213802	NM_004523.4(KIF11):c.1823T>C (p.Leu608Pro)	KIF11 (L608P)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 1174128	NG_032580.1:g.(92613040_92613130)_(92613377_92613619)del	KIF11	Deletion	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 1075991	NM_004523.4(KIF11):c.934C>T (p.Arg312Ter)	KIF11 (R312*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay +2 more	GPathogenic/Likely pathogenic
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 1029855	NM_004523.4(KIF11):c.2279A>T (p.Asp760Val)	KIF11 (D760V)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 1029854	NM_004523.4(KIF11):c.2161-1G>A	KIF11	Single nucleotide variant (splice acceptor variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability +1 more	GPathogenic/Likely pathogenic
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 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 993007	NM_004523.4(KIF11):c.895A>G (p.Ile299Val)	KIF11 (I299V)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 982377	NM_004523.4(KIF11):c.1580A>T (p.Asn527Ile)	KIF11 (N527I)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 977912	NM_004523.4(KIF11):c.587_590del (p.Ile196fs)	KIF11 (I196fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 977910	NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)	KIF11 (N838fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 977905	NM_004523.4(KIF11):c.2268-1G>A	KIF11	Single nucleotide variant (splice acceptor variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 977901	NM_004523.4(KIF11):c.2545G>T (p.Glu849Ter)	KIF11 (E849*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 977871	NM_004523.4(KIF11):c.529del (p.Asp177fs)	KIF11 (D177fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 977864	NM_004523.4(KIF11):c.308+1G>A	KIF11	Single nucleotide variant (splice donor variant)	not provided	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 977821	NM_004523.4(KIF11):c.2458G>T (p.Glu820Ter)	KIF11 (E820*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 963518	NM_004523.4(KIF11):c.193A>G (p.Thr65Ala)	KIF11 (T65A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 931459	NM_004523.4(KIF11):c.2312_2313del (p.Lys771fs)	KIF11 (K771fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 930506	NM_004523.4(KIF11):c.1217+14_1217+283del	KIF11	Deletion (intron variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 863450	NM_004523.4(KIF11):c.2836C>T (p.His946Tyr)	KIF11 (H946Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 829850	NM_004523.4(KIF11):c.349G>T (p.Gly117Cys)	KIF11 (G117C)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 812110	NM_004523.4(KIF11):c.478_479del (p.Leu160fs)	KIF11 (L160fs)	Microsatellite (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 810629	NM_004523.4(KIF11):c.381G>A (p.Trp127Ter)	KIF11 (W127*)	Single nucleotide variant (nonsense)	Syndromic retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 807619	NM_004523.4(KIF11):c.1305+1G>A	KIF11	Single nucleotide variant (splice donor variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 802621	NM_004523.4(KIF11):c.2782C>T (p.Gln928Ter)	KIF11 (Q928*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 785883	NM_004523.4(KIF11):c.1578C>A (p.His526Gln)	KIF11 (H526Q)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability +1 more	GBenign/Likely benign
Select item 694001	NM_004523.4(KIF11):c.1116dup (p.Ala373fs)	KIF11 (A373fs)	Duplication (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 666590	NM_004523.4(KIF11):c.1634T>C (p.Met545Thr)	KIF11 (M545T)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 592131	NM_004523.4(KIF11):c.980G>A (p.Arg327His)	KIF11 (R327H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 495254	NM_004523.4(KIF11):c.2972dup (p.Ser992fs)	KIF11 (S992fs)	Duplication (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 488844	NM_004523.4(KIF11):c.139C>T (p.Arg47Ter)	KIF11 (R47*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 453264	NM_004523.4(KIF11):c.2230C>T (p.Gln744Ter)	KIF11 (Q744*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 450271	NM_004523.4(KIF11):c.1288GAG[2] (p.Glu432del)	KIF11 (E432del)	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 435617	NM_004523.4(KIF11):c.868C>T (p.Gln290Ter)	KIF11 (Q290*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 435616	NM_004523.4(KIF11):c.2922G>A (p.Pro974=)	KIF11	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 435615	NM_004523.4(KIF11):c.2548-1G>A	KIF11	Single nucleotide variant (splice acceptor variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 435613	NM_004523.4(KIF11):c.2160+1G>T	KIF11	Single nucleotide variant (splice donor variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 435612	NM_004523.4(KIF11):c.2059del (p.His687fs)	KIF11 (H687fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 435611	NM_004523.4(KIF11):c.1677G>A (p.Met559Ile)	KIF11 (M559I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 424002	NM_004523.4(KIF11):c.247C>T (p.Arg83Ter)	KIF11 (R83*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 369969	NM_004523.4(KIF11):c.2341C>T (p.Gln781Ter)	KIF11 (Q781*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 259409	NM_004523.4(KIF11):c.2153A>T (p.His718Leu)	KIF11 (H718L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 235554	NM_004523.4(KIF11):c.3126G>C (p.Leu1042Phe)	KIF11 (L1042F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 211275	NM_004523.4(KIF11):c.699-7_705del	KIF11	Deletion (splice acceptor variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 211274	NM_004523.4(KIF11):c.436A>T (p.Lys146Ter)	KIF11 (K146*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
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 192301	NM_004523.4(KIF11):c.790-1G>T	KIF11	Single nucleotide variant (splice acceptor variant)	Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID)	GPathogenic
Select item 192300	NM_004523.4(KIF11):c.1408G>T (p.Glu470Ter)	KIF11 (E470*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 183017	NM_004523.4(KIF11):c.790-1G>A	KIF11	Single nucleotide variant (splice acceptor variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 183016	NM_004523.4(KIF11):c.2300_2301del (p.Phe767fs)	KIF11 (F767fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 29773	NM_004523.4(KIF11):c.704C>G (p.Ser235Cys)	KIF11 (S235C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 29772	NM_004523.4(KIF11):c.2547+2T>C	KIF11	Single nucleotide variant (splice donor variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 29771	NM_004523.4(KIF11):c.1592del (p.Gln531fs)	KIF11 (Q531fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 29770	NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys)	KIF11 (R944C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 29769	NM_004523.4(KIF11):c.1039_1040del (p.Leu347fs)	KIF11 (L347fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 29768	NM_004523.4(KIF11):c.1159C>T (p.Arg387Ter)	KIF11 (R387*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic

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Items: 97