ClinVar for Gene (Select 24137) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288634	NM_012310.5(KIF4A):c.1435G>A (p.Glu479Lys)	KIF4A (E479K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288633	NM_012310.5(KIF4A):c.2125G>T (p.Ala709Ser)	KIF4A (A709S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288632	NM_012310.5(KIF4A):c.1416G>T (p.Leu472Phe)	KIF4A (L472F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3254800	NM_012310.5(KIF4A):c.2365G>A (p.Glu789Lys)	KIF4A (E789K)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 100	GUncertain significance
Select item 3252630	NM_012310.5(KIF4A):c.2710G>C (p.Glu904Gln)	KIF4A (E904Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252579	NM_012310.5(KIF4A):c.1382A>G (p.Glu461Gly)	KIF4A (E461G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252446	NM_012310.5(KIF4A):c.2182C>T (p.Arg728Trp)	KIF4A (R728W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252194	NM_012310.5(KIF4A):c.1696T>G (p.Leu566Val)	KIF4A (L566V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251455	NM_012310.5(KIF4A):c.2887C>G (p.Leu963Val)	KIF4A (L963V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251259	NM_012310.5(KIF4A):c.823A>G (p.Ser275Gly)	KIF4A (S275G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246916	NC_000023.10:g.(?_63409759)_(71933728_?)dup	AWAT1, AWAT2 +55 more	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3242151	NM_012310.5(KIF4A):c.2243G>A (p.Gly748Glu)	KIF4A (G748E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 100	GUncertain significance
Select item 3114923	NM_012310.5(KIF4A):c.875A>G (p.Lys292Arg)	KIF4A (K292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114922	NM_012310.5(KIF4A):c.3677C>T (p.Pro1226Leu)	KIF4A (P1226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114921	NM_012310.5(KIF4A):c.3566A>T (p.Asp1189Val)	KIF4A (D1189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114920	NM_012310.5(KIF4A):c.3394C>T (p.Arg1132Trp)	KIF4A (R1132W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114919	NM_012310.5(KIF4A):c.3142T>C (p.Ser1048Pro)	KIF4A (S1048P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114918	NM_012310.5(KIF4A):c.3124G>A (p.Glu1042Lys)	KIF4A (E1042K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114917	NM_012310.5(KIF4A):c.2995G>A (p.Val999Ile)	KIF4A (V999I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114916	NM_012310.5(KIF4A):c.2383C>T (p.Leu795Phe)	KIF4A (L795F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114914	NM_012310.5(KIF4A):c.2294A>G (p.Asn765Ser)	KIF4A (N765S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114913	NM_012310.5(KIF4A):c.2225G>A (p.Arg742Gln)	KIF4A (R742Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114912	NM_012310.5(KIF4A):c.1819G>A (p.Gly607Ser)	KIF4A (G607S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3056938	NM_012310.5(KIF4A):c.1955G>A (p.Arg652His)	KIF4A (R652H)	Single nucleotide variant (missense variant)	KIF4A-related disorder	GLikely benign
Select item 3056034	NM_012310.5(KIF4A):c.1265T>G (p.Leu422Trp)	KIF4A (L422W)	Single nucleotide variant (missense variant)	KIF4A-related disorder	GBenign
Select item 3055648	NM_012310.5(KIF4A):c.1656C>T (p.Pro552=)	KIF4A	Single nucleotide variant (synonymous variant)	KIF4A-related disorder	GBenign
Select item 3050968	NM_012310.5(KIF4A):c.1489-7T>C	KIF4A	Single nucleotide variant (intron variant)	KIF4A-related disorder	GLikely benign
Select item 3048768	NM_012310.5(KIF4A):c.925A>T (p.Met309Leu)	KIF4A (M309L)	Single nucleotide variant (missense variant)	KIF4A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3047826	NM_012310.5(KIF4A):c.3324G>A (p.Val1108=)	KIF4A	Single nucleotide variant (synonymous variant)	KIF4A-related disorder	GLikely benign
Select item 3046422	NM_012310.5(KIF4A):c.3488A>G (p.Asn1163Ser)	KIF4A (N1163S)	Single nucleotide variant (missense variant)	KIF4A-related disorder	GLikely benign
Select item 3045356	NM_012310.5(KIF4A):c.3438C>T (p.Thr1146=)	KIF4A	Single nucleotide variant (synonymous variant)	KIF4A-related disorder	GBenign
Select item 3044530	NM_012310.5(KIF4A):c.3340C>G (p.Pro1114Ala)	KIF4A (P1114A)	Single nucleotide variant (missense variant)	KIF4A-related disorder	GLikely benign
Select item 3043134	NM_012310.5(KIF4A):c.3681C>T (p.Ile1227=)	KIF4A	Single nucleotide variant (synonymous variant)	KIF4A-related disorder	GLikely benign
Select item 3030459	NM_012310.5(KIF4A):c.3644C>A (p.Ala1215Asp)	KIF4A (A1215D)	Single nucleotide variant (missense variant)	KIF4A-related disorder	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TAF9B, ARMCX2 +488 more	Copy number gain	not provided	GPathogenic
Select item 2691357	NM_012310.5(KIF4A):c.2841G>A (p.Gln947=)	KIF4A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2691356	NM_012310.5(KIF4A):c.578A>T (p.Gln193Leu)	KIF4A (Q193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687853	NM_012310.5(KIF4A):c.1726G>A (p.Glu576Lys)	KIF4A (E576K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2684990	GRCh37/hg19 Xq13.1(chrX:68923582-69563323)x3	ARR3, AWAT1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2673239	NM_012310.5(KIF4A):c.2232+5_2232+12del	KIF4A	Deletion (intron variant)	not provided	GUncertain significance
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	ABCB7, AR +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2662421	NM_012310.5(KIF4A):c.1727A>T (p.Glu576Val)	KIF4A (E576V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662133	NM_012310.5(KIF4A):c.3106G>A (p.Glu1036Lys)	KIF4A (E1036K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660818	NM_012310.5(KIF4A):c.3547C>T (p.Pro1183Ser)	KIF4A (P1183S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660817	NM_012310.5(KIF4A):c.1820G>T (p.Gly607Val)	KIF4A (G607V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660816	NM_012310.5(KIF4A):c.1474G>A (p.Val492Met)	KIF4A (V492M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660815	NM_012310.5(KIF4A):c.824G>A (p.Ser275Asn)	KIF4A (S275N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660814	NM_012310.5(KIF4A):c.395T>C (p.Phe132Ser)	KIF4A (F132S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634673	NM_012310.5(KIF4A):c.3353G>A (p.Arg1118Gln)	KIF4A (R1118Q)	Single nucleotide variant (missense variant)	KIF4A-related disorder	GUncertain significance
Select item 2633521	NM_012310.5(KIF4A):c.1588A>C (p.Asn530His)	KIF4A (N530H)	Single nucleotide variant (missense variant)	KIF4A-related disorder	GUncertain significance
Select item 2627259	NM_012310.5(KIF4A):c.2899-7G>T	KIF4A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2616779	NM_012310.5(KIF4A):c.1629G>A (p.Met543Ile)	KIF4A (M543I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609450	NM_012310.5(KIF4A):c.3584A>G (p.His1195Arg)	KIF4A (H1195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588665	NM_012310.5(KIF4A):c.3395G>A (p.Arg1132Gln)	KIF4A (R1132Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580119	NM_012310.5(KIF4A):c.949G>C (p.Asp317His)	KIF4A (D317H)	Single nucleotide variant (missense variant)	Taurodontism, microdontia, and dens invaginatus	GPathogenic
Select item 2580118	NM_012310.5(KIF4A):c.2312G>A (p.Arg771Lys)	KIF4A (R771K)	Single nucleotide variant (missense variant)	Taurodontism, microdontia, and dens invaginatus	GPathogenic
Select item 2578389	NM_012310.5(KIF4A):c.3127G>T (p.Asp1043Tyr)	KIF4A (D1043Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2577627	NM_012310.5(KIF4A):c.2976+2T>G	KIF4A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2575212	NM_012310.5(KIF4A):c.763G>A (p.Asp255Asn)	KIF4A (D255N)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 100	GPathogenic
Select item 2575211	NM_012310.5(KIF4A):c.1616T>C (p.Leu539Pro)	KIF4A (L539P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 100	GPathogenic
Select item 2575210	NM_012310.5(KIF4A):c.1674+1G>A	KIF4A	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 100	GPathogenic
Select item 2573944	NM_012310.5(KIF4A):c.1114A>C (p.Thr372Pro)	KIF4A (T372P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573651	NM_012310.5(KIF4A):c.3178G>C (p.Gly1060Arg)	KIF4A (G1060R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573565	NM_012310.5(KIF4A):c.1327T>A (p.Cys443Ser)	KIF4A (C443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553219	NM_012310.5(KIF4A):c.1276G>A (p.Ala426Thr)	KIF4A (A426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545715	NM_012310.5(KIF4A):c.2018T>C (p.Ile673Thr)	KIF4A (I673T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539551	NM_012310.5(KIF4A):c.3167A>T (p.Glu1056Val)	KIF4A (E1056V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539117	NM_012310.5(KIF4A):c.3413G>C (p.Gly1138Ala)	KIF4A (G1138A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532246	NM_012310.5(KIF4A):c.670A>C (p.Lys224Gln)	KIF4A (K224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511577	NM_012310.5(KIF4A):c.3359G>A (p.Arg1120His)	KIF4A (R1120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506600	NM_012310.5(KIF4A):c.1808A>G (p.Gln603Arg)	KIF4A (Q603R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2505667	NM_012310.5(KIF4A):c.1564A>G (p.Met522Val)	KIF4A (M522V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2479210	NM_012310.5(KIF4A):c.3638C>T (p.Ala1213Val)	KIF4A (A1213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479126	NM_012310.5(KIF4A):c.859C>T (p.Pro287Ser)	KIF4A (P287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464730	NM_012310.5(KIF4A):c.2620C>A (p.Leu874Met)	KIF4A (L874M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446219	NM_012310.5(KIF4A):c.1675G>A (p.Asp559Asn)	KIF4A (D559N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444825	NM_012310.5(KIF4A):c.1548_1551delinsATCT (p.Leu517Ser)	KIF4A (L517S)	Indel (missense variant)	not provided	GUncertain significance
Select item 2442553	NM_012310.5(KIF4A):c.545T>C (p.Leu182Ser)	KIF4A (L182S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442138	NM_012310.5(KIF4A):c.2111C>T (p.Thr704Met)	KIF4A (T704M)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 100	GUncertain significance
Select item 2433152	NM_012310.5(KIF4A):c.1921C>T (p.Arg641Trp)	KIF4A (R641W)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 100 +1 more	GUncertain significance
Select item 2433151	NM_012310.5(KIF4A):c.1891C>T (p.Arg631Cys)	KIF4A (R631C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433150	NM_012310.5(KIF4A):c.3322G>A (p.Val1108Met)	KIF4A (V1108M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429408	NM_012310.5(KIF4A):c.517-5A>G	KIF4A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2372075	NM_012310.5(KIF4A):c.1922G>A (p.Arg641Gln)	KIF4A (R641Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2369405	NM_012310.5(KIF4A):c.3656G>C (p.Ser1219Thr)	KIF4A (S1219T)	Single nucleotide variant (missense variant)	KIF4A-related disorder +2 more	GUncertain significance
Select item 2299546	NM_012310.5(KIF4A):c.2431G>A (p.Glu811Lys)	KIF4A (E811K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276685	NM_012310.5(KIF4A):c.2785G>C (p.Glu929Gln)	KIF4A (E929Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242756	NM_012310.5(KIF4A):c.1129A>G (p.Ile377Val)	KIF4A (I377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238441	NM_012310.5(KIF4A):c.1151A>G (p.Asn384Ser)	KIF4A (N384S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2220516	NM_012310.5(KIF4A):c.1892G>A (p.Arg631His)	KIF4A (R631H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208076	NM_012310.5(KIF4A):c.3602A>G (p.Gln1201Arg)	KIF4A (Q1201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879004	NM_012310.5(KIF4A):c.907G>A (p.Gly303Ser)	KIF4A (G303S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808158	GRCh37/hg19 Xq13.1(chrX:69216192-69529923)x3	ARR3, AWAT1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1806559	NM_012310.5(KIF4A):c.911A>G (p.Asn304Ser)	KIF4A (N304S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1804192	NM_012310.5(KIF4A):c.2248G>A (p.Glu750Lys)	KIF4A (E750K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic

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