ClinVar for MedGen (Select 370750) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023622	NM_006612.6(KIF1C):c.2370C>T (p.Asp790=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 3016552	NM_006612.6(KIF1C):c.2880G>A (p.Gly960=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 3011160	NM_006612.6(KIF1C):c.720+14C>G	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2982545	NM_006612.6(KIF1C):c.1449C>T (p.Val483=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2967607	NM_006612.6(KIF1C):c.720+15C>T	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2966073	NM_006612.6(KIF1C):c.1571+17G>A	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2956729	NM_006612.6(KIF1C):c.363+18T>C	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2920080	NM_006612.6(KIF1C):c.184-13C>T	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
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 2916862	NM_006612.6(KIF1C):c.48C>T (p.Asn16=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2914153	NM_006612.6(KIF1C):c.450C>T (p.Tyr150=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2904063	NM_006612.6(KIF1C):c.430-6A>G	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2900627	NM_006612.6(KIF1C):c.183+20dup	KIF1C	Duplication (intron variant)	Spastic ataxia 2	GBenign
Select item 2894317	NM_006612.6(KIF1C):c.399C>T (p.Asn133=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2894022	NM_006612.6(KIF1C):c.1267C>G (p.Leu423Val)	KIF1C (L423V)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2887751	NM_006612.6(KIF1C):c.2535G>A (p.Gln845=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2881131	NM_006612.6(KIF1C):c.3252C>T (p.Pro1084=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2878047	NM_006612.6(KIF1C):c.608+9G>C	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2863531	NM_006612.6(KIF1C):c.1571+9T>C	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2856727	NM_006612.6(KIF1C):c.2847G>T (p.Leu949=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2852853	NM_006612.6(KIF1C):c.318C>A (p.Thr106=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2851907	NM_006612.6(KIF1C):c.720+16C>T	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2851191	NM_006612.6(KIF1C):c.1396_1397del (p.Glu466fs)	KIF1C (E466fs)	Deletion (frameshift variant)	Spastic ataxia 2	GPathogenic
Select item 2848261	NM_006612.6(KIF1C):c.366C>T (p.Leu122=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2847385	NM_006612.6(KIF1C):c.1491+2T>C	KIF1C	Single nucleotide variant (splice donor variant)	Spastic ataxia 2	GLikely pathogenic
Select item 2844499	NM_006612.6(KIF1C):c.1492-7C>T	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2835312	NM_006612.6(KIF1C):c.1428G>A (p.Leu476=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2830608	NM_006612.6(KIF1C):c.1274C>T (p.Pro425Leu)	KIF1C (P425L)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GLikely benign
Select item 2828797	NM_006612.6(KIF1C):c.2070G>A (p.Arg690=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2826109	NM_006612.6(KIF1C):c.456G>A (p.Glu152=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2810921	NM_006612.6(KIF1C):c.184-13C>A	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2807812	NM_006612.6(KIF1C):c.2011-5C>T	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2804842	NM_006612.6(KIF1C):c.3120C>T (p.Ser1040=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2792296	NM_006612.6(KIF1C):c.1238C>T (p.Pro413Leu)	KIF1C (P413L)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2781506	NM_006612.6(KIF1C):c.3090C>T (p.Arg1030=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2778797	NM_006612.6(KIF1C):c.2934C>G (p.Arg978=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2768137	NM_006612.6(KIF1C):c.1415+18T>G	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2741222	NM_006612.6(KIF1C):c.1079C>A (p.Ala360Asp)	KIF1C (A360D)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2739811	NM_006612.6(KIF1C):c.1491+19G>A	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2738011	NM_006612.6(KIF1C):c.2988C>T (p.Ser996=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2732179	NM_006612.6(KIF1C):c.15G>A (p.Ser5=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GBenign
Select item 2730824	NM_006612.6(KIF1C):c.364-17C>T	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2730188	NM_006612.6(KIF1C):c.2511C>T (p.Ile837=)	KIF1C	Single nucleotide variant (synonymous 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 2727045	NM_006612.6(KIF1C):c.1640G>T (p.Arg547Leu)	KIF1C (R547L)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GLikely benign
Select item 2726363	NM_006612.6(KIF1C):c.429+15T>C	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2720418	NM_006612.6(KIF1C):c.1545C>T (p.Leu515=)	KIF1C	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 2714397	NM_006612.6(KIF1C):c.255C>G (p.Ala85=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2713506	NM_006612.6(KIF1C):c.1492-14C>T	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2713251	NM_006612.6(KIF1C):c.2250G>A (p.Gln750=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2712690	NM_006612.6(KIF1C):c.720+20C>T	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2706928	NM_006612.6(KIF1C):c.2048G>A (p.Arg683His)	KIF1C (R683H)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GLikely benign
Select item 2704569	NM_006612.6(KIF1C):c.1491+18C>T	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2700115	NM_006612.6(KIF1C):c.651C>T (p.Ser217=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2585607	NM_006612.6(KIF1C):c.3055C>T (p.Arg1019Trp)	KIF1C (R1019W)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2583176	NM_006612.6(KIF1C):c.647G>A (p.Arg216His)	KIF1C (R216H)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GLikely pathogenic
Select item 2462099	NM_006612.6(KIF1C):c.386G>A (p.Arg129His)	KIF1C (R129H)	Single nucleotide variant (missense variant)	Spastic ataxia 2 +1 more	GUncertain significance
Select item 2444164	NM_006612.6(KIF1C):c.41C>T (p.Pro14Leu)	KIF1C (P14L)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GLikely pathogenic
Select item 2425618	NC_000017.10:g.(?_4926743)_(4927446_?)del	KIF1C	Deletion	Spastic ataxia 2	GUncertain significance
Select item 2420536	NM_006612.6(KIF1C):c.3219C>T (p.Pro1073=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2420133	NM_006612.6(KIF1C):c.2833G>A (p.Glu945Lys)	KIF1C (E945K)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2417390	NM_006612.6(KIF1C):c.177C>T (p.His59=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2416573	NM_006612.6(KIF1C):c.2202G>T (p.Leu734=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2413840	NM_006612.6(KIF1C):c.328C>T (p.Arg110Ter)	KIF1C (R110*)	Single nucleotide variant (nonsense)	Spastic ataxia 2	GPathogenic
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 2195430	NM_006612.6(KIF1C):c.2599C>T (p.Arg867Cys)	KIF1C (R867C)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2193645	NM_006612.6(KIF1C):c.1020-4C>T	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2193202	NM_006612.6(KIF1C):c.1166-19T>C	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2188524	NM_006612.6(KIF1C):c.1029C>T (p.Asp343=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2184666	NM_006612.6(KIF1C):c.3052C>T (p.Arg1018Cys)	KIF1C (R1018C)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2180543	NM_006612.6(KIF1C):c.608G>A (p.Arg203Gln)	KIF1C (R203Q)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2179978	NM_006612.6(KIF1C):c.297C>T (p.Thr99=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GBenign
Select item 2169104	NM_006612.6(KIF1C):c.76T>C (p.Cys26Arg)	KIF1C (C26R)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GLikely benign
Select item 2165926	NM_006612.6(KIF1C):c.2339G>A (p.Arg780Gln)	KIF1C (R780Q)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2161679	NM_006612.6(KIF1C):c.2781C>T (p.Leu927=)	KIF1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 2159827	NM_006612.6(KIF1C):c.2902C>A (p.Arg968Ser)	KIF1C (R968S)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2159680	NM_006612.6(KIF1C):c.1623G>A (p.Glu541=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2158304	NM_006612.6(KIF1C):c.2218C>T (p.Arg740Cys)	KIF1C (R740C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2154053	NM_006612.6(KIF1C):c.2468A>T (p.Glu823Val)	KIF1C (E823V)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2152658	NM_006612.6(KIF1C):c.2666C>T (p.Pro889Leu)	KIF1C (P889L)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2152637	NM_006612.6(KIF1C):c.2512G>T (p.Asp838Tyr)	KIF1C (D838Y)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
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 2144102	NM_006612.6(KIF1C):c.107-16C>T	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2143054	NM_006612.6(KIF1C):c.2628+17G>T	KIF1C	Single nucleotide variant (intron 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 2140851	NM_006612.6(KIF1C):c.2878G>C (p.Gly960Arg)	KIF1C (G960R)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
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 2137164	NM_006612.6(KIF1C):c.2600G>C (p.Arg867Pro)	KIF1C (R867P)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2128952	NM_006612.6(KIF1C):c.1571+20C>A	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2126601	NM_006612.6(KIF1C):c.609-9T>C	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2120873	NM_006612.6(KIF1C):c.564C>T (p.Ser188=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2102215	NM_006612.6(KIF1C):c.3082C>T (p.His1028Tyr)	KIF1C (H1028Y)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2099008	NM_006612.6(KIF1C):c.1140G>C (p.Gln380His)	KIF1C (Q380H)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2095007	NM_006612.6(KIF1C):c.3084T>C (p.His1028=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign

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