KIF4A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1205956	NM_012310.5(KIF4A):c.-21-5C>T	KIF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300073	NM_012310.5(KIF4A):c.27C>T (p.Pro9=)	KIF4A	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 100	GBenign
Select item 771226	NM_012310.5(KIF4A):c.27= (p.Pro9=)	KIF4A	Variation (no sequence alteration)	not provided	GBenign
Select item 752353	NM_012310.5(KIF4A):c.249G>A (p.Thr83=)	KIF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753279	NM_012310.5(KIF4A):c.253C>T (p.Leu85=)	KIF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 291161	NM_012310.5(KIF4A):c.386A>G (p.Lys129Arg)	KIF4A (K129R)	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 747629	NM_012310.5(KIF4A):c.453T>C (p.Leu151=)	KIF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773102	NM_012310.5(KIF4A):c.462A>G (p.Pro154=)	KIF4A	Single nucleotide variant (synonymous variant)	KIF4A-related disorder +1 more	GBenign/Likely benign
Select item 2429408	NM_012310.5(KIF4A):c.517-5A>G	KIF4A	Single nucleotide variant (intron 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 2691356	NM_012310.5(KIF4A):c.578A>T (p.Gln193Leu)	KIF4A (Q193L)	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 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 1312821	NM_012310.5(KIF4A):c.778+5G>A	KIF4A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 632604	NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)	KIF4A (R265L)	Single nucleotide variant (missense variant)	Ventriculomegaly +5 more	GLikely pathogenic
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 2660815	NM_012310.5(KIF4A):c.824G>A (p.Ser275Asn)	KIF4A (S275N)	Single nucleotide variant (missense variant)	not provided	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 3114923	NM_012310.5(KIF4A):c.875A>G (p.Lys292Arg)	KIF4A (K292R)	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 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 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 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 1300074	NM_012310.5(KIF4A):c.969A>G (p.Thr323=)	KIF4A	Single nucleotide variant (synonymous variant)	KIF4A-related disorder +1 more	GBenign
Select item 1300075	NM_012310.5(KIF4A):c.987T>C (p.Tyr329=)	KIF4A	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 100	GBenign
Select item 1684508	NM_012310.5(KIF4A):c.1015A>G (p.Lys339Glu)	KIF4A (K339E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 100	GUncertain significance
Select item 1341888	NM_012310.5(KIF4A):c.1072-8T>G	KIF4A	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 100	GUncertain significance
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 1029186	NM_012310.5(KIF4A):c.1123G>A (p.Gly375Arg)	KIF4A (G375R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 100	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 1305006	NM_012310.5(KIF4A):c.1133+4A>G	KIF4A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2238441	NM_012310.5(KIF4A):c.1151A>G (p.Asn384Ser)	KIF4A (N384S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 735046	NM_012310.5(KIF4A):c.1174A>C (p.Asn392His)	KIF4A (N392H)	Single nucleotide variant (missense variant)	not provided	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 2553219	NM_012310.5(KIF4A):c.1276G>A (p.Ala426Thr)	KIF4A (A426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 377032	NM_012310.5(KIF4A):c.1276G>T (p.Ala426Ser)	KIF4A (A426S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 727954	NM_012310.5(KIF4A):c.1323G>A (p.Ala441=)	KIF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3252579	NM_012310.5(KIF4A):c.1382A>G (p.Glu461Gly)	KIF4A (E461G)	Single nucleotide variant (missense variant)	not provided	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 3288634	NM_012310.5(KIF4A):c.1435G>A (p.Glu479Lys)	KIF4A (E479K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773103	NM_012310.5(KIF4A):c.1472C>T (p.Ala491Val)	KIF4A (A491V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 508025	NM_012310.5(KIF4A):c.1489-5dup	KIF4A	Duplication (intron variant)	not specified	GLikely benign
Select item 140729	NM_012310.5(KIF4A):c.1489-8_1490delinsATAATGAAAG	KIF4A	Indel (splice acceptor variant)	Intellectual disability, X-linked 100	GPathogenic
Select item 3050968	NM_012310.5(KIF4A):c.1489-7T>C	KIF4A	Single nucleotide variant (intron variant)	KIF4A-related disorder	GLikely benign
Select item 804023	NM_012310.5(KIF4A):c.1525G>A (p.Asp509Asn)	KIF4A (D509N)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 100	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 523498	NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro)	KIF4A (R518P)	Single nucleotide variant (missense variant)	Poor motor coordination +9 more	GUncertain significance
Select item 594440	NM_012310.5(KIF4A):c.1559C>T (p.Ala520Val)	KIF4A (A520V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2633521	NM_012310.5(KIF4A):c.1588A>C (p.Asn530His)	KIF4A (N530H)	Single nucleotide variant (missense variant)	KIF4A-related disorder	GUncertain significance
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 2616779	NM_012310.5(KIF4A):c.1629G>A (p.Met543Ile)	KIF4A (M543I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055648	NM_012310.5(KIF4A):c.1656C>T (p.Pro552=)	KIF4A	Single nucleotide variant (synonymous variant)	KIF4A-related disorder	GBenign
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 2446219	NM_012310.5(KIF4A):c.1675G>A (p.Asp559Asn)	KIF4A (D559N)	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 2687853	NM_012310.5(KIF4A):c.1726G>A (p.Glu576Lys)	KIF4A (E576K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 560295	NM_012310.5(KIF4A):c.1745T>A (p.Leu582His)	KIF4A (L582H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 761701	NM_012310.5(KIF4A):c.1779-8G>A	KIF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3114912	NM_012310.5(KIF4A):c.1819G>A (p.Gly607Ser)	KIF4A (G607S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2433151	NM_012310.5(KIF4A):c.1891C>T (p.Arg631Cys)	KIF4A (R631C)	Single nucleotide variant (missense variant)	not provided	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 1678322	NM_012310.5(KIF4A):c.1915G>C (p.Glu639Gln)	KIF4A (E639Q)	Single nucleotide variant (missense variant)	not provided	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 2372075	NM_012310.5(KIF4A):c.1922G>A (p.Arg641Gln)	KIF4A (R641Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1703169	NM_012310.5(KIF4A):c.1939C>T (p.Arg647Trp)	KIF4A (R647W)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 100	GUncertain significance
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 2545715	NM_012310.5(KIF4A):c.2018T>C (p.Ile673Thr)	KIF4A (I673T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790242	NM_012310.5(KIF4A):c.2059C>T (p.Leu687=)	KIF4A	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 100 +1 more	GBenign/Likely benign
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 1030246	NM_012310.5(KIF4A):c.2113G>A (p.Glu705Lys)	KIF4A (E705K)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 100	GUncertain significance
Select item 435643	NM_012310.5(KIF4A):c.2118+7A>G	KIF4A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 593008	NM_012310.5(KIF4A):c.2137C>T (p.Arg713Cys)	KIF4A (R713C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807743	NM_012310.5(KIF4A):c.2165G>A (p.Arg722Gln)	KIF4A (R722Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916375	NM_012310.5(KIF4A):c.2176G>A (p.Asp726Asn)	KIF4A (D726N)	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 445639	NM_012310.5(KIF4A):c.2183G>A (p.Arg728Gln)	KIF4A (R728Q)	Single nucleotide variant (missense variant)	not specified +1 more	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 2673239	NM_012310.5(KIF4A):c.2232+5_2232+12del	KIF4A	Deletion (intron variant)	not provided	GUncertain significance
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 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 1698299	NM_012310.5(KIF4A):c.2285G>A (p.Arg762His)	KIF4A (R762H)	Single nucleotide variant (missense variant)	not provided	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 547084	NM_012310.5(KIF4A):c.2310T>C (p.Asp770=)	KIF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1013075	NM_012310.5(KIF4A):c.2372C>T (p.Pro791Leu)	KIF4A (P791L)	Single nucleotide variant (missense variant)	not provided	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 731667	NM_012310.5(KIF4A):c.2415G>A (p.Val805=)	KIF4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 444809	NM_012310.5(KIF4A):c.2443T>C (p.Ser815Pro)	KIF4A (S815P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 753139	NM_012310.5(KIF4A):c.2619+7dup	KIF4A	Duplication (intron variant)	not provided	GLikely benign
Select item 2464730	NM_012310.5(KIF4A):c.2620C>A (p.Leu874Met)	KIF4A (L874M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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