Related gene-specific medical variations for Gene (Select 10749) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357938	NM_006612.6(KIF1C):c.774_775del (p.Ala260fs)	KIF1C, LOC126862472 (A260fs)	Deletion (frameshift variant)	KIF1C-related disorder	GLikely pathogenic
Select item 3288492	NM_006612.6(KIF1C):c.1838C>A (p.Pro613Gln)	KIF1C, LOC126862473 (P613Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243063	NC_000017.10:g.(?_4916928)_(4927446_?)del	KIF1C	Deletion	Spastic ataxia 2	GUncertain significance
Select item 3114583	NM_006612.6(KIF1C):c.1984G>C (p.Asp662His)	KIF1C, LOC126862473 (D662H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2920022	NM_006612.6(KIF1C):c.798+13C>T	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2727548	NM_006612.6(KIF1C):c.1836C>T (p.Pro612=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2720029	NM_006612.6(KIF1C):c.1819C>T (p.Arg607Trp)	KIF1C, LOC126862473 (R607W)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GLikely benign
Select item 2719041	NM_006612.6(KIF1C):c.941-8A>G	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2647285	NM_006612.6(KIF1C):c.1893G>T (p.Leu631=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647284	NM_006612.6(KIF1C):c.1850C>T (p.Pro617Leu)	KIF1C, LOC126862473 (P617L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647283	NM_006612.6(KIF1C):c.1719G>A (p.Lys573=)	KIF1C, KIF1C-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2629925	NM_006612.6(KIF1C):c.815A>G (p.Asn272Ser)	KIF1C, LOC126862472 (N272S)	Single nucleotide variant (missense variant)	KIF1C-related disorder	GUncertain significance
Select item 2570968	NM_006612.6(KIF1C):c.1964G>A (p.Arg655Gln)	KIF1C, LOC126862473 (R655Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2552814	NM_006612.6(KIF1C):c.737T>C (p.Leu246Ser)	KIF1C, LOC126862472 (L246S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472659	NM_006612.6(KIF1C):c.1780G>A (p.Val594Ile)	KIF1C, LOC126862473 (V594I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412751	NM_006612.6(KIF1C):c.2005C>T (p.Arg669Ter)	KIF1C, LOC126862473 (R669*)	Single nucleotide variant (nonsense)	Spastic ataxia 2	GLikely pathogenic
Select item 2160949	NM_006612.6(KIF1C):c.721-4C>T	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2157349	NM_006612.6(KIF1C):c.1938-14C>T	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2149992	NM_006612.6(KIF1C):c.2010+4A>C	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2	GUncertain significance
Select item 2148679	NM_006612.6(KIF1C):c.852C>T (p.Ala284=)	KIF1C, LOC126862472	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2144131	NM_006612.6(KIF1C):c.1779C>T (p.His593=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2141042	NM_006612.6(KIF1C):c.990C>T (p.Ile330=)	KIF1C, LOC126862472	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GBenign
Select item 2140019	NM_006612.6(KIF1C):c.1800G>A (p.Pro600=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2079959	NM_006612.6(KIF1C):c.1984G>A (p.Asp662Asn)	KIF1C, LOC126862473 (D662N)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2071802	NM_006612.6(KIF1C):c.1767G>A (p.Met589Ile)	KIF1C, LOC126862473 (M589I)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2066273	NM_006612.6(KIF1C):c.1938-13del	KIF1C, LOC126862473	Deletion (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2061982	NM_006612.6(KIF1C):c.953G>A (p.Arg318His)	KIF1C, LOC126862472 (R318H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2054422	NM_006612.6(KIF1C):c.912G>A (p.Val304=)	LOC126862472, KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2049717	NM_006612.6(KIF1C):c.850G>A (p.Ala284Thr)	KIF1C, LOC126862472 (A284T)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2049076	NM_006612.6(KIF1C):c.1937+4C>T	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2	GUncertain significance
Select item 2048436	NM_006612.6(KIF1C):c.1851G>A (p.Pro617=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2047420	NM_006612.6(KIF1C):c.1727C>T (p.Thr576Met)	KIF1C, KIF1C-AS1 +1 more (T576M)	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic ataxia 2	GUncertain significance
Select item 2042060	NM_006612.6(KIF1C):c.992A>G (p.Asn331Ser)	KIF1C, LOC126862472 (N331S)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2018652	NM_006612.6(KIF1C):c.1667-8C>G	KIF1C, KIF1C-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic ataxia 2	GLikely benign
Select item 2008283	NM_006612.6(KIF1C):c.764C>A (p.Ala255Asp)	KIF1C, LOC126862472 (A255D)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2003347	NM_006612.6(KIF1C):c.743A>G (p.Asp248Gly)	KIF1C, LOC126862472 (D248G)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 1994801	NM_006612.6(KIF1C):c.864+17G>A	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 1993398	NM_006612.6(KIF1C):c.721-14dup	KIF1C, LOC126862472	Duplication (intron variant)	Spastic ataxia 2	GLikely benign
Select item 1991602	NM_006612.6(KIF1C):c.1750G>A (p.Gly584Arg)	KIF1C, KIF1C-AS1 +1 more (G584R)	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic ataxia 2	GUncertain significance
Select item 1990961	NM_006612.6(KIF1C):c.768C>T (p.Asp256=)	KIF1C, LOC126862472	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GBenign
Select item 1989047	NM_006612.6(KIF1C):c.840A>G (p.Lys280=)	KIF1C, LOC126862472	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 1980448	NM_006612.6(KIF1C):c.1866C>T (p.Val622=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 1969617	NM_006612.6(KIF1C):c.1963C>T (p.Arg655Trp)	KIF1C, LOC126862473 (R655W)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 1947820	NM_006612.6(KIF1C):c.940+7G>A	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 1944805	NM_006612.6(KIF1C):c.1667-12C>T	KIF1C, KIF1C-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic ataxia 2	GLikely benign
Select item 1939850	NM_006612.6(KIF1C):c.843G>T (p.Val281=)	KIF1C, LOC126862472	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 1935287	NM_006612.6(KIF1C):c.721-18T>C	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 1922287	NM_006612.6(KIF1C):c.1741C>T (p.Leu581=)	KIF1C, KIF1C-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic ataxia 2	GLikely benign
Select item 1920988	NM_006612.6(KIF1C):c.1937+20G>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 1900638	NM_006612.6(KIF1C):c.2010+8G>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 1803319	NM_006612.5(KIF1C):c.945del	KIF1C, LOC126862472	Deletion	not provided	GPathogenic
Select item 1713365	NM_006612.6(KIF1C):c.803G>C (p.Gly268Ala)	KIF1C, LOC126862472 (G268A)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 1675653	NM_006612.6(KIF1C):c.790C>T (p.Arg264Cys)	KIF1C, LOC126862472 (R264C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650800	NM_006612.6(KIF1C):c.940+17C>A	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1641072	NM_006612.6(KIF1C):c.799-19A>T	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 1609650	NM_006612.6(KIF1C):c.822C>G (p.Ser274=)	KIF1C, LOC126862472	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 1570409	NM_006612.6(KIF1C):c.849G>A (p.Ser283=)	KIF1C, LOC126862472	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 1442634	NM_006612.6(KIF1C):c.1938G>A (p.Arg646=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GUncertain significance
Select item 1375797	NM_006612.6(KIF1C):c.1794C>A (p.Asn598Lys)	KIF1C, LOC126862473 (N598K)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 1359563	NM_006612.6(KIF1C):c.766G>A (p.Asp256Asn)	KIF1C, LOC126862472 (D256N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1344397	NM_006612.6(KIF1C):c.1938-5C>G	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344396	NM_006612.6(KIF1C):c.1937+5G>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2 +1 more	GUncertain significance
Select item 1344395	NM_006612.6(KIF1C):c.1844C>T (p.Pro615Leu)	KIF1C, LOC126862473 (P615L)	Single nucleotide variant (missense variant)	Spastic ataxia 2 +1 more	GUncertain significance
Select item 1335242	NM_006612.6(KIF1C):c.1731G>A (p.Glu577=)	KIF1C, KIF1C-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1306293	NM_006612.6(KIF1C):c.1684C>T (p.Pro562Ser)	KIF1C, KIF1C-AS1 +1 more (P562S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1287288	NM_006612.6(KIF1C):c.2010+124A>G	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262363	NM_006612.6(KIF1C):c.2010+160A>G	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243318	NM_006612.6(KIF1C):c.1937+32C>T	LOC126862473, KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237107	NM_006612.6(KIF1C):c.1751-30G>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216524	NM_006612.6(KIF1C):c.721-81A>G	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203512	NM_006612.6(KIF1C):c.799-59G>A	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202414	NM_006612.6(KIF1C):c.2010+22G>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196048	NM_006612.6(KIF1C):c.1667-99A>G	KIF1C, KIF1C-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180686	NM_006612.6(KIF1C):c.1996G>T (p.Glu666Ter)	KIF1C, LOC126862473 (E666*)	Single nucleotide variant (nonsense)	Abnormal central motor function	GPathogenic
Select item 1176653	NM_006612.6(KIF1C):c.1959G>A (p.Gln653=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1075456	NM_006612.6(KIF1C):c.726_727insCC (p.Lys243fs)	KIF1C, LOC126862472 (K243fs)	Insertion (frameshift variant)	Spastic ataxia 2	GPathogenic
Select item 1027417	NM_006612.6(KIF1C):c.765del (p.Asp256fs)	KIF1C, LOC126862472 (D256fs)	Deletion (frameshift variant)	Spastic ataxia 2	GPathogenic
Select item 989136	NM_006612.6(KIF1C):c.1019+1dup	KIF1C	Duplication (splice donor variant)	Spastic ataxia 2	GPathogenic
Select item 989135	NM_006612.6(KIF1C):c.445A>T (p.Ile149Phe)	KIF1C (I149F)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GPathogenic
Select item 987477	NM_006612.6(KIF1C):c.1335+2_1335+5del	KIF1C	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 987476	NM_006612.6(KIF1C):c.3G>T (p.Met1Ile)	KIF1C (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 987468	NM_006612.6(KIF1C):c.2774_2777dup (p.Leu927fs)	KIF1C (L927fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 987467	NM_006612.6(KIF1C):c.2223G>A (p.Trp741Ter)	KIF1C (W741*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 987072	NM_006612.6(KIF1C):c.1049_1052del (p.Cys350fs)	KIF1C (C350fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 987071	NM_006612.6(KIF1C):c.940+2T>G	KIF1C, LOC126862472	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 916438	NM_006612.6(KIF1C):c.2006G>A (p.Arg669Gln)	KIF1C, LOC126862473 (R669Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 852848	NM_006612.6(KIF1C):c.1852C>T (p.Pro618Ser)	KIF1C, LOC126862473 (P618S)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 835940	NM_006612.6(KIF1C):c.798+5G>A	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	Spastic ataxia 2	GUncertain significance
Select item 761904	NM_006612.6(KIF1C):c.774A>G (p.Ser258=)	KIF1C, LOC126862472	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749667	NM_006612.6(KIF1C):c.1842C>G (p.Pro614=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728074	NM_006612.6(KIF1C):c.721-5C>T	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 708899	NM_006612.6(KIF1C):c.865-7C>T	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 708248	NM_006612.6(KIF1C):c.765C>T (p.Ala255=)	KIF1C, LOC126862472	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 705594	NM_006612.6(KIF1C):c.1962C>T (p.Tyr654=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 705424	NM_006612.6(KIF1C):c.885G>A (p.Ser295=)	KIF1C, LOC126862472	Single nucleotide variant (synonymous variant)	Spastic ataxia 2 +2 more	GBenign/Likely benign
Select item 705102	NM_006612.6(KIF1C):c.1750+6_1750+8del	KIF1C, KIF1C-AS1 +1 more	Microsatellite (non-coding transcript variant +1 more)	Spastic ataxia 2 +1 more	GLikely benign
Select item 702346	NM_006612.6(KIF1C):c.732C>G (p.Ile244Met)	KIF1C, LOC126862472 (I244M)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GLikely benign
Select item 702197	NM_006612.6(KIF1C):c.884C>T (p.Ser295Leu)	KIF1C, LOC126862472 (S295L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 682850	NM_006612.6(KIF1C):c.799-43G>A	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 665779	NM_006612.6(KIF1C):c.899A>T (p.Tyr300Phe)	KIF1C, LOC126862472 (Y300F)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GLikely benign

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