KIAA1217[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 144415	GRCh38/hg38 10p12.2-12.1(chr10:24111341-25350640)x1	GPR158-AS1, KIAA1217 +35 more	Copy number loss	See cases	GPathogenic
Select item 3288148	NM_019590.5(KIAA1217):c.15A>C (p.Glu5Asp)	KIAA1217 (E5D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305310	NM_019590.5(KIAA1217):c.59G>A (p.Arg20Lys)	KIAA1217 (R20K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249835	NM_019590.5(KIAA1217):c.94G>A (p.Val32Ile)	KIAA1217 (V32I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3114173	NM_019590.5(KIAA1217):c.188T>A (p.Ile63Asn)	KIAA1217 (I63N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2409196	NM_019590.5(KIAA1217):c.302A>G (p.Tyr101Cys)	KIAA1217 (Y101C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114180	NM_019590.5(KIAA1217):c.347G>A (p.Arg116Lys)	KIAA1217 (R116K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290480	NM_019590.5(KIAA1217):c.467C>T (p.Ala156Val)	KIAA1217 (A76V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288141	NM_019590.5(KIAA1217):c.493C>T (p.Arg165Trp)	KIAA1217 (R165W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216497	NM_019590.5(KIAA1217):c.503C>T (p.Ala168Val)	KIAA1217 (A168V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405711	NM_019590.5(KIAA1217):c.571T>C (p.Tyr191His)	KIAA1217, LOC126860883 (Y111H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114195	NM_019590.5(KIAA1217):c.704A>G (p.Tyr235Cys)	KIAA1217, LOC126860883 (Y155C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288151	NM_019590.5(KIAA1217):c.712G>A (p.Asp238Asn)	KIAA1217, LOC126860883 (D158N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357499	NM_019590.5(KIAA1217):c.755A>G (p.Asn252Ser)	KIAA1217 (N252S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114196	NM_019590.5(KIAA1217):c.814C>T (p.His272Tyr)	KIAA1217 (H272Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223385	NM_019590.5(KIAA1217):c.869C>A (p.Ala290Glu)	KIAA1217 (A290E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396560	NM_019590.5(KIAA1217):c.926C>T (p.Ala309Val)	KIAA1217 (A27V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608784	NM_019590.5(KIAA1217):c.1000G>A (p.Gly334Ser)	KIAA1217 (G334S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288133	NM_019590.5(KIAA1217):c.1066G>C (p.Val356Leu)	KIAA1217 (V276L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207295	NM_019590.5(KIAA1217):c.1096G>A (p.Ala366Thr)	KIAA1217 (A286T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326311	NM_019590.5(KIAA1217):c.1103T>C (p.Leu368Ser)	KIAA1217 (L288S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311316	NM_019590.5(KIAA1217):c.1135A>T (p.Met379Leu)	KIAA1217 (M299L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288135	NM_019590.5(KIAA1217):c.1208G>A (p.Arg403Gln)	KIAA1217 (R323Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288160	NM_019590.5(KIAA1217):c.1351T>C (p.Tyr451His)	KIAA1217 (Y169H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469983	NM_019590.5(KIAA1217):c.1357C>G (p.Gln453Glu)	KIAA1217 (Q453E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114171	NM_019590.5(KIAA1217):c.1415C>G (p.Pro472Arg)	KIAA1217 (P190R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475573	NM_019590.5(KIAA1217):c.1450A>G (p.Ile484Val)	KIAA1217 (I202V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3288150	NM_019590.5(KIAA1217):c.1469A>G (p.Tyr490Cys)	KIAA1217 (Y490C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403640	NM_019590.5(KIAA1217):c.1480G>A (p.Gly494Ser)	KIAA1217 (G212S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114172	NM_019590.5(KIAA1217):c.1507C>T (p.Arg503Trp)	KIAA1217 (R503W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224081	NM_019590.5(KIAA1217):c.1550C>T (p.Thr517Ile)	KIAA1217 (T437I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537229	NM_019590.5(KIAA1217):c.1574G>A (p.Arg525Gln)	KIAA1217 (R243Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223362	NM_019590.5(KIAA1217):c.1579G>A (p.Ala527Thr)	KIAA1217 (A245T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 776502	NM_019590.5(KIAA1217):c.1582G>A (p.Ala528Thr)	KIAA1217 (A448T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2268904	NM_019590.5(KIAA1217):c.1649C>T (p.Thr550Met)	KIAA1217 (T268M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277042	NM_019590.5(KIAA1217):c.1778C>T (p.Ala593Val)	KIAA1217 (A311V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288145	NM_019590.5(KIAA1217):c.1808C>G (p.Ala603Gly)	KIAA1217 (A523G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621812	NM_019590.5(KIAA1217):c.1853G>C (p.Gly618Ala)	KIAA1217 (G336A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245804	NM_019590.5(KIAA1217):c.1861A>T (p.Met621Leu)	KIAA1217 (M339L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288140	NM_019590.5(KIAA1217):c.1916C>T (p.Thr639Ile)	KIAA1217 (T639I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220239	NM_019590.5(KIAA1217):c.1957G>A (p.Val653Met)	KIAA1217 (V371M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211249	NM_019590.5(KIAA1217):c.1961C>T (p.Ala654Val)	KIAA1217 (A574V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262252	NM_019590.5(KIAA1217):c.1971G>T (p.Arg657Ser)	KIAA1217 (R622S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476944	NM_019590.5(KIAA1217):c.1995G>C (p.Gln665His)	KIAA1217 (Q348H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344119	NM_019590.5(KIAA1217):c.2006A>G (p.Gln669Arg)	KIAA1217 (Q589R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475148	NM_019590.5(KIAA1217):c.2030T>A (p.Met677Lys)	KIAA1217 (M395K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234331	NM_019590.5(KIAA1217):c.2044G>A (p.Glu682Lys)	KIAA1217 (E647K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595432	NM_019590.5(KIAA1217):c.2111G>A (p.Arg704His)	KIAA1217 (R387H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206541	NM_019590.5(KIAA1217):c.2164G>A (p.Val722Ile)	KIAA1217 (V687I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3288157	NM_019590.5(KIAA1217):c.2243T>G (p.Leu748Arg)	KIAA1217 (L466R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272624	NM_019590.5(KIAA1217):c.2251G>A (p.Val751Met)	KIAA1217 (V716M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350728	NM_019590.5(KIAA1217):c.2263G>T (p.Ala755Ser)	KIAA1217 (A473S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400712	NM_019590.5(KIAA1217):c.2417G>A (p.Arg806His)	KIAA1217 (R489H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288137	NM_019590.5(KIAA1217):c.2422C>T (p.Arg808Cys)	KIAA1217 (R491C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640348	NM_019590.5(KIAA1217):c.2490C>T (p.Asp830=)	KIAA1217	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728959	NM_019590.5(KIAA1217):c.2502C>T (p.Ala834=)	KIAA1217	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3114174	NM_019590.5(KIAA1217):c.2503G>A (p.Ala835Thr)	KIAA1217 (A800T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744669	NM_019590.5(KIAA1217):c.2574C>T (p.Thr858=)	KIAA1217	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2334312	NM_019590.5(KIAA1217):c.2578G>A (p.Gly860Ser)	KIAA1217 (G578S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2597844	NM_019590.5(KIAA1217):c.2611G>A (p.Asp871Asn)	KIAA1217 (D871N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365513	NM_019590.5(KIAA1217):c.2648T>C (p.Met883Thr)	KIAA1217 (M601T +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 993872	NM_019590.5(KIAA1217):c.2698T>C (p.Ser900Pro)	KIAA1217 (S583P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993940	NM_019590.5(KIAA1217):c.2740G>C (p.Ala914Pro)	KIAA1217 (A597P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2591550	NM_019590.5(KIAA1217):c.2745C>G (p.Ser915Arg)	KIAA1217 (S880R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288159	NM_019590.5(KIAA1217):c.2749C>T (p.Pro917Ser)	KIAA1217 (P600S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551671	NM_019590.5(KIAA1217):c.2768C>T (p.Ala923Val)	KIAA1217 (A843V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2253261	NM_019590.5(KIAA1217):c.2804C>A (p.Ser935Tyr)	KIAA1217 (S935Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454845	NM_019590.5(KIAA1217):c.2921A>G (p.Glu974Gly)	KIAA1217 (E974G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369188	NM_019590.5(KIAA1217):c.2933A>G (p.Asn978Ser)	KIAA1217 (N898S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114175	NM_019590.5(KIAA1217):c.2939A>T (p.Asp980Val)	KIAA1217 (D698V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257770	NM_019590.5(KIAA1217):c.3023C>T (p.Pro1008Leu)	KIAA1217 (P1008L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775091	NM_019590.5(KIAA1217):c.3061G>T (p.Val1021Leu)	KIAA1217 (V941L +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2548254	NM_019590.5(KIAA1217):c.3125G>T (p.Gly1042Val)	KIAA1217 (G759V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288134	NM_019590.5(KIAA1217):c.3157C>T (p.Arg1053Cys)	KIAA1217 (R1053C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330634	NM_019590.5(KIAA1217):c.3158G>T (p.Arg1053Leu)	KIAA1217 (R1017L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288136	NM_019590.5(KIAA1217):c.3161G>A (p.Arg1054Gln)	KIAA1217 (R737Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114177	NM_019590.5(KIAA1217):c.3179C>T (p.Ser1060Leu)	KIAA1217 (S777L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364017	NM_019590.5(KIAA1217):c.3241G>A (p.Ala1081Thr)	KIAA1217 (A1046T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114178	NM_019590.5(KIAA1217):c.3262G>T (p.Ala1088Ser)	KIAA1217, LOC126860884 (A1052S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114179	NM_019590.5(KIAA1217):c.3263C>T (p.Ala1088Val)	KIAA1217, LOC126860884 (A1053V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539635	NM_019590.5(KIAA1217):c.3319G>C (p.Ala1107Pro)	KIAA1217, LOC126860884 (A1027P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788794	NM_019590.5(KIAA1217):c.3338C>T (p.Pro1113Leu)	KIAA1217, LOC126860884 (P1077L +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2528583	NM_019590.5(KIAA1217):c.3350C>T (p.Thr1117Ile)	KIAA1217, LOC126860884 (T1037I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363870	NM_019590.5(KIAA1217):c.3352T>G (p.Ser1118Ala)	KIAA1217, LOC126860884 (S835A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281913	NM_019590.5(KIAA1217):c.3382G>A (p.Glu1128Lys)	KIAA1217, LOC126860884 (E1093K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288152	NM_019590.5(KIAA1217):c.3422A>G (p.Gln1141Arg)	KIAA1217 (Q1105R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457172	NM_019590.5(KIAA1217):c.3473G>A (p.Arg1158Gln)	KIAA1217 (R1123Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114181	NM_019590.5(KIAA1217):c.3480C>G (p.Asp1160Glu)	KIAA1217 (D1160E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288142	NM_019590.5(KIAA1217):c.3487G>A (p.Val1163Ile)	KIAA1217 (V846I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624062	NM_019590.5(KIAA1217):c.3493G>A (p.Asp1165Asn)	KIAA1217 (D1129N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526917	NM_019590.5(KIAA1217):c.3501G>T (p.Arg1167Ser)	KIAA1217 (R850S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728877	NM_019590.5(KIAA1217):c.3598A>G (p.Met1200Val)	KIAA1217 (M1164V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 773918	NM_019590.5(KIAA1217):c.3647C>T (p.Pro1216Leu)	KIAA1217 (P1216L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2348672	NM_019590.5(KIAA1217):c.3791C>T (p.Pro1264Leu)	KIAA1217 (P1264L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211653	NM_019590.5(KIAA1217):c.3899C>T (p.Thr1300Met)	KIAA1217 (T1300M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545410	NM_019590.5(KIAA1217):c.3901C>A (p.Leu1301Met)	KIAA1217 (L1301M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3114182	NM_019590.5(KIAA1217):c.3910G>A (p.Gly1304Arg)	KIAA1217 (G1304R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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