ClinVar for Gene (Select 200162) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060576	NM_206996.4(SPAG17):c.567T>C (p.Asn189=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GBenign
Select item 3060565	NM_206996.4(SPAG17):c.6107T>A (p.Leu2036Gln)	SPAG17 (L2036Q)	Single nucleotide variant (missense variant)	SPAG17-related condition	GBenign
Select item 3060485	NM_206996.4(SPAG17):c.1905G>A (p.Pro635=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GBenign
Select item 3060387	NM_206996.4(SPAG17):c.5133T>C (p.Pro1711=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GBenign
Select item 3060379	NM_206996.4(SPAG17):c.3111C>T (p.Tyr1037=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GBenign
Select item 3060345	NM_206996.4(SPAG17):c.264A>G (p.Ser88=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GBenign
Select item 3060343	NM_206996.4(SPAG17):c.1392C>T (p.Pro464=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GBenign
Select item 3060044	NM_206996.4(SPAG17):c.6486C>T (p.Ile2162=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GBenign
Select item 3059836	NM_206996.4(SPAG17):c.428G>A (p.Arg143Gln)	SPAG17 (R143Q)	Single nucleotide variant (missense variant)	SPAG17-related condition	GBenign
Select item 3059563	NM_206996.4(SPAG17):c.6480C>A (p.His2160Gln)	SPAG17 (H2160Q)	Single nucleotide variant (missense variant)	SPAG17-related condition	GBenign
Select item 3059507	NM_206996.4(SPAG17):c.5553G>A (p.Gln1851=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GBenign
Select item 3059236	NM_206996.4(SPAG17):c.4043C>T (p.Pro1348Leu)	SPAG17 (P1348L)	Single nucleotide variant (missense variant)	SPAG17-related condition	GBenign
Select item 3057279	NM_206996.4(SPAG17):c.3969T>A (p.Pro1323=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GLikely benign
Select item 3056024	NM_206996.4(SPAG17):c.4769C>A (p.Thr1590Asn)	SPAG17 (T1590N)	Single nucleotide variant (missense variant)	SPAG17-related condition	GLikely benign
Select item 3055890	NM_206996.4(SPAG17):c.473A>T (p.Glu158Val)	SPAG17 (E158V)	Single nucleotide variant (missense variant)	SPAG17-related condition	GBenign
Select item 3053432	NM_206996.4(SPAG17):c.3129G>A (p.Gly1043=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GLikely benign
Select item 3052929	NM_206996.4(SPAG17):c.2837G>T (p.Arg946Leu)	SPAG17 (R946L)	Single nucleotide variant (missense variant)	SPAG17-related condition	GBenign
Select item 3052928	NM_206996.4(SPAG17):c.5873-6T>C	SPAG17	Single nucleotide variant (intron variant)	SPAG17-related condition	GLikely benign
Select item 3050825	NM_206996.4(SPAG17):c.5655G>A (p.Lys1885=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GLikely benign
Select item 3050467	NM_206996.4(SPAG17):c.2166G>A (p.Glu722=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GLikely benign
Select item 3050320	NM_206996.4(SPAG17):c.2918A>G (p.Asp973Gly)	SPAG17 (D973G)	Single nucleotide variant (missense variant)	SPAG17-related condition	GLikely benign
Select item 3050028	NM_206996.4(SPAG17):c.1384G>A (p.Val462Ile)	SPAG17 (V462I)	Single nucleotide variant (missense variant)	SPAG17-related condition	GLikely benign
Select item 3049307	NM_206996.4(SPAG17):c.2592A>G (p.Glu864=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GLikely benign
Select item 3049034	NM_206996.4(SPAG17):c.1602C>T (p.Tyr534=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GLikely benign
Select item 3048514	NM_206996.4(SPAG17):c.1498-4A>G	SPAG17	Single nucleotide variant (intron variant)	SPAG17-related condition	GBenign
Select item 3041031	NM_206996.4(SPAG17):c.3540A>G (p.Lys1180=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GLikely benign
Select item 3041017	NM_206996.4(SPAG17):c.4941T>C (p.Ala1647=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GLikely benign
Select item 3039361	NM_206996.4(SPAG17):c.1080G>A (p.Arg360=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GLikely benign
Select item 3038447	NM_206996.4(SPAG17):c.4967G>A (p.Arg1656Gln)	SPAG17 (R1656Q)	Single nucleotide variant (missense variant)	SPAG17-related condition	GLikely benign
Select item 3038251	NM_206996.4(SPAG17):c.6653G>A (p.Arg2218His)	SPAG17, WDR3 (R2218H)	Single nucleotide variant (3 prime UTR variant +1 more)	SPAG17-related condition	GLikely benign
Select item 3037876	NM_206996.4(SPAG17):c.3054+9C>T	SPAG17	Single nucleotide variant (intron variant)	SPAG17-related condition	GLikely benign
Select item 3037445	NM_206996.4(SPAG17):c.5239A>G (p.Lys1747Glu)	SPAG17 (K1747E)	Single nucleotide variant (missense variant)	SPAG17-related condition	GBenign
Select item 3035518	NM_206996.4(SPAG17):c.5669+7A>G	SPAG17	Single nucleotide variant (intron variant)	SPAG17-related condition	GBenign
Select item 3035513	NM_206996.4(SPAG17):c.5622-52_5622-8dup	SPAG17	Duplication (intron variant)	SPAG17-related condition	GLikely benign
Select item 3034932	NM_206996.4(SPAG17):c.5530C>T (p.His1844Tyr)	SPAG17 (H1844Y)	Single nucleotide variant (missense variant)	SPAG17-related condition	GLikely benign
Select item 3034547	NM_206996.4(SPAG17):c.5669+6T>G	SPAG17	Single nucleotide variant (intron variant)	SPAG17-related condition	GLikely benign
Select item 3034443	NM_206996.4(SPAG17):c.5621+10T>C	SPAG17	Single nucleotide variant (intron variant)	SPAG17-related condition	GLikely benign
Select item 3034194	NM_206996.4(SPAG17):c.5001A>C (p.Ala1667=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GLikely benign
Select item 3033201	NM_206996.4(SPAG17):c.3492A>G (p.Thr1164=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related condition	GBenign
Select item 2685820	GRCh37/hg19 1p12(chr1:118103451-118847256)x3	GDAP2, SPAG17 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2639037	NM_206996.4(SPAG17):c.2370G>A (p.Pro790=)	SPAG17	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2639036	NM_206996.4(SPAG17):c.3060C>T (p.His1020=)	SPAG17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639035	NM_206996.4(SPAG17):c.3282G>A (p.Glu1094=)	SPAG17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639034	NM_206996.4(SPAG17):c.4209C>T (p.Ile1403=)	SPAG17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623858	NM_206996.4(SPAG17):c.6094C>T (p.Pro2032Ser)	SPAG17 (P2032S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621092	NM_206996.4(SPAG17):c.4942G>A (p.Asp1648Asn)	SPAG17 (D1648N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617529	NM_006784.3(WDR3):c.2614A>T (p.Met872Leu)	SPAG17, WDR3 (M872L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617414	NM_206996.4(SPAG17):c.4040T>C (p.Ile1347Thr)	SPAG17 (I1347T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614894	NM_006784.3(WDR3):c.2477T>C (p.Val826Ala)	SPAG17, WDR3 (V826A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614288	NM_206996.4(SPAG17):c.671T>C (p.Ile224Thr)	SPAG17 (I224T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612721	NM_206996.4(SPAG17):c.1739A>G (p.Glu580Gly)	SPAG17 (E580G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611376	NM_206996.4(SPAG17):c.379A>G (p.Lys127Glu)	SPAG17 (K127E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607480	NM_206996.4(SPAG17):c.2321C>T (p.Thr774Ile)	SPAG17 (T774I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607396	NM_206996.4(SPAG17):c.4930G>A (p.Val1644Ile)	SPAG17 (V1644I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603713	NM_206996.4(SPAG17):c.5717G>A (p.Arg1906His)	SPAG17 (R1906H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2599329	NM_206996.4(SPAG17):c.5913T>G (p.Ser1971Arg)	SPAG17 (S1971R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598248	NM_206996.4(SPAG17):c.2498G>C (p.Cys833Ser)	SPAG17 (C833S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592468	NM_206996.4(SPAG17):c.2626A>G (p.Lys876Glu)	SPAG17 (K876E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2588046	NM_206996.4(SPAG17):c.6652C>T (p.Arg2218Cys)	SPAG17, WDR3 (R2218C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555987	NM_206996.4(SPAG17):c.655G>A (p.Ala219Thr)	SPAG17 (A219T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549680	NM_206996.4(SPAG17):c.3013G>A (p.Glu1005Lys)	SPAG17 (E1005K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539796	NM_206996.4(SPAG17):c.488A>T (p.Lys163Ile)	SPAG17 (K163I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538751	NM_206996.4(SPAG17):c.3877G>A (p.Val1293Ile)	SPAG17 (V1293I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535826	NM_206996.4(SPAG17):c.6530C>G (p.Ala2177Gly)	SPAG17 (A2177G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535596	NM_206996.4(SPAG17):c.4627G>T (p.Asp1543Tyr)	SPAG17 (D1543Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534986	NM_206996.4(SPAG17):c.3409T>G (p.Tyr1137Asp)	SPAG17 (Y1137D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532809	NM_206996.4(SPAG17):c.3508G>A (p.Val1170Met)	SPAG17 (V1170M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520111	NM_206996.4(SPAG17):c.959A>G (p.Tyr320Cys)	SPAG17 (Y320C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512723	NM_206996.4(SPAG17):c.70G>C (p.Ala24Pro)	SPAG17 (A24P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511497	NM_206996.4(SPAG17):c.3514G>A (p.Val1172Ile)	SPAG17 (V1172I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2510510	NM_206996.4(SPAG17):c.5144G>A (p.Arg1715Gln)	SPAG17 (R1715Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2508613	NM_206996.4(SPAG17):c.4475G>A (p.Arg1492Gln)	SPAG17 (R1492Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508099	NM_206996.4(SPAG17):c.4976A>G (p.Asp1659Gly)	SPAG17 (D1659G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493969	NM_206996.4(SPAG17):c.3500C>T (p.Pro1167Leu)	SPAG17 (P1167L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484276	NM_206996.4(SPAG17):c.6655A>C (p.Lys2219Gln)	SPAG17, WDR3 (K2219Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483841	NM_206996.4(SPAG17):c.6619A>G (p.Ile2207Val)	SPAG17, WDR3 (I2207V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477612	NM_206996.4(SPAG17):c.724A>T (p.Ile242Phe)	SPAG17 (I242F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467274	NM_206996.4(SPAG17):c.6371C>T (p.Thr2124Ile)	SPAG17 (T2124I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462998	NM_206996.4(SPAG17):c.3890T>A (p.Met1297Lys)	SPAG17 (M1297K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461845	NM_206996.4(SPAG17):c.5912G>A (p.Ser1971Asn)	SPAG17 (S1971N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457433	NM_206996.4(SPAG17):c.2854C>T (p.Arg952Cys)	SPAG17 (R952C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454843	NM_206996.4(SPAG17):c.4070G>A (p.Gly1357Glu)	SPAG17 (G1357E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408059	NM_206996.4(SPAG17):c.794T>C (p.Val265Ala)	SPAG17 (V265A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405441	NM_206996.4(SPAG17):c.245C>T (p.Thr82Ile)	SPAG17 (T82I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396897	NM_206996.4(SPAG17):c.6290T>C (p.Val2097Ala)	SPAG17 (V2097A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390113	NM_206996.4(SPAG17):c.185G>A (p.Arg62His)	SPAG17 (R62H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386456	NM_206996.4(SPAG17):c.625C>T (p.Arg209Cys)	SPAG17 (R209C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386303	NM_206996.4(SPAG17):c.2241T>G (p.Asp747Glu)	SPAG17 (D747E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2384355	NM_006784.3(WDR3):c.2728G>A (p.Glu910Lys)	WDR3, SPAG17 (E910K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378489	NM_206996.4(SPAG17):c.3214A>G (p.Met1072Val)	SPAG17 (M1072V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376321	NM_206996.4(SPAG17):c.4667T>C (p.Ile1556Thr)	SPAG17 (I1556T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375762	NM_206996.4(SPAG17):c.623A>G (p.Asn208Ser)	SPAG17 (N208S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375456	NM_206996.4(SPAG17):c.709A>G (p.Met237Val)	SPAG17 (M237V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359065	NM_206996.4(SPAG17):c.3020C>G (p.Ser1007Cys)	SPAG17 (S1007C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354051	NM_206996.4(SPAG17):c.6157G>A (p.Gly2053Arg)	SPAG17 (G2053R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347241	NM_206996.4(SPAG17):c.3317C>T (p.Thr1106Met)	SPAG17 (T1106M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341865	NM_206996.4(SPAG17):c.5626A>C (p.Thr1876Pro)	SPAG17 (T1876P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340785	NM_206996.4(SPAG17):c.1770G>T (p.Leu590Phe)	SPAG17 (L590F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339695	NM_206996.4(SPAG17):c.4348G>C (p.Val1450Leu)	SPAG17 (V1450L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339214	NM_206996.4(SPAG17):c.5456A>T (p.Asp1819Val)	SPAG17 (D1819V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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