KIF18A[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145522	GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3	ANO3, ANO3-AS1 +71 more	Copy number gain	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 2589309	NM_031217.4(KIF18A):c.2656A>G (p.Arg886Gly)	KIF18A (R886G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357105	NM_031217.4(KIF18A):c.2648G>A (p.Ser883Asn)	KIF18A (S883N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 720712	NM_031217.4(KIF18A):c.2645C>T (p.Pro882Leu)	KIF18A (P882L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2244659	NM_031217.4(KIF18A):c.2539A>C (p.Asn847His)	KIF18A (N847H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769798	NM_031217.4(KIF18A):c.2535C>T (p.Asp845=)	KIF18A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2278669	NM_031217.4(KIF18A):c.2357A>T (p.Gln786Leu)	KIF18A (Q786L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114544	NM_031217.4(KIF18A):c.2316A>G (p.Ile772Met)	KIF18A (I772M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114543	NM_031217.4(KIF18A):c.2290G>A (p.Glu764Lys)	KIF18A (E764K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114542	NM_031217.4(KIF18A):c.2278G>A (p.Glu760Lys)	KIF18A (E760K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333581	NM_031217.4(KIF18A):c.2213A>T (p.Asn738Ile)	KIF18A (N738I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373100	NM_031217.4(KIF18A):c.2168T>C (p.Met723Thr)	KIF18A (M723T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458738	NM_031217.4(KIF18A):c.2150C>T (p.Pro717Leu)	KIF18A (P717L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114541	NM_031217.4(KIF18A):c.2126A>G (p.Asp709Gly)	KIF18A (D709G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547371	NM_031217.4(KIF18A):c.2117C>T (p.Thr706Ile)	KIF18A (T706I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509541	NM_031217.4(KIF18A):c.2108T>C (p.Ile703Thr)	KIF18A (I703T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514144	NM_031217.4(KIF18A):c.2102A>G (p.Gln701Arg)	KIF18A (Q701R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334461	NM_031217.4(KIF18A):c.2039A>G (p.His680Arg)	KIF18A (H680R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284823	NM_031217.4(KIF18A):c.2016G>A (p.Met672Ile)	KIF18A (M672I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316192	NM_031217.4(KIF18A):c.1935G>C (p.Gln645His)	KIF18A (Q645H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460133	NM_031217.4(KIF18A):c.1886T>C (p.Leu629Pro)	KIF18A (L629P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560694	NM_031217.4(KIF18A):c.1795T>A (p.Ser599Thr)	KIF18A (S599T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261166	NM_031217.4(KIF18A):c.1780A>C (p.Asn594His)	KIF18A (N594H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306592	NM_031217.4(KIF18A):c.1751A>G (p.Tyr584Cys)	KIF18A (Y584C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114540	NM_031217.4(KIF18A):c.1627C>T (p.Leu543Phe)	KIF18A (L543F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288333	NM_031217.4(KIF18A):c.1616A>G (p.His539Arg)	KIF18A (H539R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288332	NM_031217.4(KIF18A):c.1598A>G (p.Lys533Arg)	KIF18A (K533R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386893	NM_031217.4(KIF18A):c.1580A>G (p.His527Arg)	KIF18A (H527R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617823	NM_031217.4(KIF18A):c.1576G>A (p.Gly526Ser)	KIF18A (G526S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114539	NM_031217.4(KIF18A):c.1487A>G (p.Lys496Arg)	KIF18A (K496R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410303	NM_031217.4(KIF18A):c.1469G>A (p.Arg490His)	KIF18A (R490H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114538	NM_031217.4(KIF18A):c.1424A>C (p.Lys475Thr)	KIF18A (K475T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288331	NM_031217.4(KIF18A):c.1108A>G (p.Ile370Val)	KIF18A (I370V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344395	NM_031217.4(KIF18A):c.1096G>A (p.Val366Ile)	KIF18A (V366I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114536	NM_031217.4(KIF18A):c.1041G>C (p.Lys347Asn)	KIF18A (K347N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481878	NM_031217.4(KIF18A):c.1010T>C (p.Val337Ala)	KIF18A (V337A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522125	NM_031217.4(KIF18A):c.980T>C (p.Ile327Thr)	KIF18A (I327T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288334	NM_031217.4(KIF18A):c.886G>A (p.Ala296Thr)	KIF18A (A296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344706	NM_031217.4(KIF18A):c.805G>A (p.Gly269Ser)	KIF18A (G269S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3114548	NM_031217.4(KIF18A):c.803C>G (p.Ser268Cys)	KIF18A (S268C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114547	NM_031217.4(KIF18A):c.748C>T (p.Arg250Cys)	KIF18A (R250C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549841	NM_031217.4(KIF18A):c.649C>T (p.His217Tyr)	KIF18A (H217Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254861	NM_031217.4(KIF18A):c.518A>G (p.Asn173Ser)	KIF18A (N173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547666	NM_031217.4(KIF18A):c.463A>G (p.Thr155Ala)	KIF18A (T155A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114546	NM_031217.4(KIF18A):c.456A>G (p.Ile152Met)	KIF18A (I152M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608031	NM_031217.4(KIF18A):c.289A>G (p.Ile97Val)	KIF18A (I97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114545	NM_031217.4(KIF18A):c.242A>C (p.Asp81Ala)	KIF18A (D81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401871	NM_031217.4(KIF18A):c.214C>T (p.Leu72Phe)	KIF18A (L72F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328205	NM_031217.4(KIF18A):c.198G>C (p.Lys66Asn)	KIF18A (K66N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114537	NM_031217.4(KIF18A):c.10A>C (p.Thr4Pro)	KIF18A (T4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711090	GRCh37/hg19 11p14.1(chr11:27382897-29172035)x1	BDNF, BDNF-AS +6 more	Copy number loss	See cases	GUncertain significance
Select item 1695895	GRCh37/hg19 11p14.1-13(chr11:27547893-31656604)x1	BDNF, BDNF-AS +11 more	Copy number loss	not provided	Gnot provided
Select item 1527633	GRCh37/hg19 11p14.1(chr11:28055151-28268659)	KIF18A, METTL15 +1 more	Copy number loss	not specified	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815422	GRCh37/hg19 11p14.1(chr11:28055151-28348275)x1	KIF18A, MIR610 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563874	GRCh37/hg19 11p14.3-14.1(chr11:25090108-28909131)x3	BBOX1, CCDC34 +12 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 70