ClinVar for Gene (Select 3832) - ClinVar - NCBI

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	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 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
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 3026864	NM_004523.4(KIF11):c.78A>G (p.Arg26=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023296	NM_004523.4(KIF11):c.9G>A (p.Ser3=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3008780	NM_004523.4(KIF11):c.3003G>A (p.Val1001=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004730	NM_004523.4(KIF11):c.1707T>C (p.Asn569=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004238	NM_004523.4(KIF11):c.3022G>A (p.Gly1008Arg)	KIF11 (G1008R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997963	NM_004523.4(KIF11):c.3151C>T (p.Arg1051Ter)	KIF11 (R1051*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2994696	NM_004523.4(KIF11):c.2815G>A (p.Val939Ile)	KIF11 (V939I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989952	NM_004523.4(KIF11):c.1592A>T (p.Gln531Leu)	KIF11 (Q531L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988947	NM_004523.4(KIF11):c.1204G>C (p.Glu402Gln)	KIF11 (E402Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986069	NM_004523.4(KIF11):c.264A>G (p.Pro88=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2982668	NM_004523.4(KIF11):c.3042T>C (p.His1014=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977611	NM_004523.4(KIF11):c.2002-13T>C	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974923	NM_004523.4(KIF11):c.1305+17A>G	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972830	NM_004523.4(KIF11):c.123A>G (p.Val41=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967645	NM_004523.4(KIF11):c.2548-13G>A	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965185	NM_004523.4(KIF11):c.1495-15T>C	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960538	NM_004523.4(KIF11):c.1376A>G (p.Gln459Arg)	KIF11 (Q459R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960098	NM_004523.4(KIF11):c.2770+20G>C	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954976	NM_004523.4(KIF11):c.1400A>G (p.His467Arg)	KIF11 (H467R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2912201	NM_004523.4(KIF11):c.1941A>T (p.Ile647=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2908441	NM_004523.4(KIF11):c.2970T>C (p.Pro990=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2907111	NM_004523.4(KIF11):c.211-5G>A	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878122	NM_004523.4(KIF11):c.699-4C>T	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875997	NM_004523.4(KIF11):c.1869A>G (p.Glu623=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875076	NM_004523.4(KIF11):c.1874T>C (p.Ile625Thr)	KIF11 (I625T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873682	NM_004523.4(KIF11):c.2898A>C (p.Glu966Asp)	KIF11 (E966D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873076	NM_004523.4(KIF11):c.2866C>G (p.Pro956Ala)	KIF11 (P956A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866998	NM_004523.4(KIF11):c.2168G>A (p.Cys723Tyr)	KIF11 (C723Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857278	NM_004523.4(KIF11):c.2922+16_2922+18del	KIF11	Deletion (intron variant)	not provided	GLikely benign
Select item 2851398	NM_004523.4(KIF11):c.1399C>T (p.His467Tyr)	KIF11 (H467Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851252	NM_004523.4(KIF11):c.1734A>G (p.Leu578=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844196	NM_004523.4(KIF11):c.1098del (p.Gln367fs)	KIF11 (Q367fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2844054	NM_004523.4(KIF11):c.2920C>A (p.Pro974Thr)	KIF11 (P974T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835771	NM_004523.4(KIF11):c.2765C>T (p.Pro922Leu)	KIF11 (P922L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831325	NM_004523.4(KIF11):c.77+11G>A	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825510	NM_004523.4(KIF11):c.480G>C (p.Leu160=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824475	NM_004523.4(KIF11):c.891G>A (p.Arg297=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821333	NM_004523.4(KIF11):c.1033-15del	KIF11	Deletion (intron variant)	not provided	GLikely benign
Select item 2820378	NM_004523.4(KIF11):c.1128+18T>G	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818920	NM_004523.4(KIF11):c.1305+3A>G	KIF11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2818606	NM_004523.4(KIF11):c.2680del (p.Gln894fs)	KIF11 (Q894fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2816796	NM_004523.4(KIF11):c.699-12A>T	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814099	NM_004523.4(KIF11):c.2986T>C (p.Ser996Pro)	KIF11 (S996P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813863	NM_004523.4(KIF11):c.1128+12T>A	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812537	NM_004523.4(KIF11):c.1021C>G (p.Leu341Val)	KIF11 (L341V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811741	NM_004523.4(KIF11):c.1032+5G>A	KIF11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2811605	NM_004523.4(KIF11):c.1013C>T (p.Pro338Leu)	KIF11 (P338L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811448	NM_004523.4(KIF11):c.1769C>T (p.Thr590Ile)	KIF11 (T590I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807923	NM_004523.4(KIF11):c.1876-4C>A	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805270	NM_004523.4(KIF11):c.372G>A (p.Glu124=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803588	NM_004523.4(KIF11):c.1129-11C>A	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802756	NM_004523.4(KIF11):c.1258G>A (p.Val420Ile)	KIF11 (V420I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800563	NM_004523.4(KIF11):c.2771-15T>C	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798624	NM_004523.4(KIF11):c.1147G>A (p.Glu383Lys)	KIF11 (E383K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795559	NM_004523.4(KIF11):c.1192G>C (p.Val398Leu)	KIF11 (V398L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791708	NM_004523.4(KIF11):c.312T>C (p.Tyr104=)	KIF11	Single nucleotide variant (synonymous 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 2789205	NM_004523.4(KIF11):c.2160+15G>C	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786311	NM_004523.4(KIF11):c.2564G>C (p.Cys855Ser)	KIF11 (C855S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780662	NM_004523.4(KIF11):c.1460G>A (p.Ser487Asn)	KIF11 (S487N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780183	NM_004523.4(KIF11):c.620del (p.Lys207fs)	KIF11 (K207fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2779565	NM_004523.4(KIF11):c.443C>G (p.Thr148Ser)	KIF11 (T148S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770822	NM_004523.4(KIF11):c.730C>G (p.His244Asp)	KIF11 (H244D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766129	NM_004523.4(KIF11):c.644A>G (p.Glu215Gly)	KIF11 (E215G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2760741	NM_004523.4(KIF11):c.2938G>T (p.Glu980Ter)	KIF11 (E980*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2760180	NM_004523.4(KIF11):c.1691del (p.Lys564fs)	KIF11 (K564fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2759388	NM_004523.4(KIF11):c.308+12G>T	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757370	NM_004523.4(KIF11):c.1121TTA[1] (p.Ile375del)	KIF11 (I375del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 2749825	NM_004523.4(KIF11):c.1727_1728del (p.Ser576fs)	KIF11 (S576fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2747413	NM_004523.4(KIF11):c.3023G>A (p.Gly1008Glu)	KIF11 (G1008E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745448	NM_004523.4(KIF11):c.2784G>A (p.Gln928=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745425	NM_004523.4(KIF11):c.2548-1G>T	KIF11	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2735455	NM_004523.4(KIF11):c.2362C>T (p.Gln788Ter)	KIF11 (Q788*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2735454	NM_004523.4(KIF11):c.730C>T (p.His244Tyr)	KIF11 (H244Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709041	NM_004523.4(KIF11):c.1174G>T (p.Ala392Ser)	KIF11 (A392S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708566	NM_004523.4(KIF11):c.1867G>T (p.Glu623Ter)	KIF11 (E623*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2707457	NM_004523.4(KIF11):c.1693A>C (p.Thr565Pro)	KIF11 (T565P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706695	NM_004523.4(KIF11):c.1480G>C (p.Asp494His)	KIF11 (D494H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706562	NM_004523.4(KIF11):c.3162C>G (p.Ile1054Met)	KIF11 (I1054M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703355	NM_004523.4(KIF11):c.1698A>G (p.Leu566=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703335	NM_004523.4(KIF11):c.1729G>A (p.Ala577Thr)	KIF11 (A577T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700911	NM_004523.4(KIF11):c.309-11A>C	KIF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693027	NM_004523.4(KIF11):c.923dup (p.His308fs)	KIF11 (H308fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
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 2662624	NM_004523.4(KIF11):c.917C>T (p.Thr306Ile)	KIF11 (T306I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640679	NM_004523.4(KIF11):c.3054T>C (p.His1018=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640678	NM_004523.4(KIF11):c.2364A>G (p.Gln788=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640677	NM_004523.4(KIF11):c.849G>C (p.Arg283=)	KIF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636404	NM_004523.4(KIF11):c.1288G>C (p.Glu430Gln)	KIF11 (E430Q)	Single nucleotide variant (missense variant)	KIF11-related condition	GUncertain significance
Select item 2631901	NM_004523.4(KIF11):c.118A>G (p.Ile40Val)	KIF11 (I40V)	Single nucleotide variant (missense variant)	KIF11-related condition	GUncertain significance

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