Spata1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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394 records found for search term Spata1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
28881974	CV888431	single nucleotide variant	NM_031955.6(SPATA16):c.-2C>T	Globozoospermia [RCV001149783]	uncertain significance	3	173117733	173117733	Human	2	name
28876729	CV888418	single nucleotide variant	NM_031955.6(SPATA16):c.*92A>G	Globozoospermia [RCV001148126]	uncertain significance	3	172889478	172889478	Human	2	name
11596332	CV289553	single nucleotide variant	NM_031955.6(SPATA16):c.-121G>A	Globozoospermia [RCV000380877]	likely benign\|uncertain significance	3	173141205	173141205	Human	2	name
11591281	CV289560	single nucleotide variant	NM_031955.6(SPATA16):c.-142G>A	Globozoospermia [RCV000327538]	uncertain significance	3	173141226	173141226	Human	2	name
11646754	CV293412	single nucleotide variant	NM_031955.6(SPATA16):c.-141C>T	Spermatogenic Failure [RCV000272518]	uncertain significance	3	173141225	173141225	Human	1	name
11595982	CV293416	single nucleotide variant	NM_031955.5(SPATA16):c.-159C>A	Spermatogenic Failure [RCV000376890]	uncertain significance	3	173141243	173141243	Human	1	name
28876721	CV888416	single nucleotide variant	NM_031955.6(SPATA16):c.*157C>T	Globozoospermia [RCV001148124]	uncertain significance	3	172889413	172889413	Human	2	name
28876726	CV888417	single nucleotide variant	NM_031955.6(SPATA16):c.*138C>A	Globozoospermia [RCV001148125]	uncertain significance	3	172889432	172889432	Human	2	name
401936808	CV2816047	single nucleotide variant	NM_138796.4(SPATA17):c.158+3A>G	not provided [RCV003414773]	likely benign	1	217648974	217648974	Human		name
11596464	CV289545	deletion	NM_031955.6(SPATA16):c.848+15del	Spermatogenic Failure [RCV000382509]	uncertain significance	3	173019471	173019471	Human	1	name
405283652	CV3191822	single nucleotide variant	NM_001166271.3(SPATA13):c.-61C>T	SPATA13-related disorder [RCV003921917]	benign	13	24222869	24222869	Human		name , trait , alternate_id
14693260	CV620761	single nucleotide variant	NM_031955.6(SPATA16):c.1588-2A>G	Globozoospermia [RCV000778690]	uncertain significance	3	172889694	172889694	Human	1	name
28874660	CV891621	single nucleotide variant	NM_031955.6(SPATA16):c.613-13A>G	Globozoospermia [RCV001147308]	uncertain significance	3	173049107	173049107	Human	2	name
28881595	CV891620	single nucleotide variant	NM_031955.6(SPATA16):c.1503+15T>C	Globozoospermia [RCV001149675]	uncertain significance	3	172916302	172916302	Human	2	name
8578375	CV112756	single nucleotide variant	NM_031955.5(SPATA16):c.1082-520C>A	Lung cancer [RCV000093279]	uncertain significance	3	172926012	172926012	Human		name
150494667	CV1224939	single nucleotide variant	NM_031955.6(SPATA16):c.1228+275T>C	not provided [RCV001619417]	benign	3	172925071	172925071	Human		name
8578374	CV112755	single nucleotide variant	NM_031955.5(SPATA16):c.1587+7934G>C	Lung cancer [RCV000093278]	uncertain significance	3	172905727	172905727	Human		name
405271495	CV3209458	single nucleotide variant	NM_001166271.3(SPATA13):c.2668-7T>C	SPATA13-related disorder [RCV003949778]	likely benign	13	24288992	24288992	Human		name , trait , alternate_id
405257797	CV3210896	single nucleotide variant	NM_001166271.3(SPATA13):c.2667+8G>A	SPATA13-related disorder [RCV003941361]	likely benign	13	24286958	24286958	Human		name , trait , alternate_id
405276591	CV3193417	single nucleotide variant	NM_001166271.3(SPATA13):c.2165-13279G>C	SPATA13-related disorder [RCV003974585]	benign	13	24270856	24270856	Human		name , trait , alternate_id
156051954	CV2238137	single nucleotide variant	NM_001166271.3(SPATA13):c.2710G>A (p.Val904Ile)	SPATA13-related disorder [RCV003953986]\|not specified [RCV004111148]	likely benign\|uncertain significance	13	24289041	24289041	Human		name , trait , alternate_id
11591717	CV290314	single nucleotide variant	NM_031955.6(SPATA16):c.1143A>G (p.Gln381=)	Globozoospermia [RCV000331613]\|SPATA16-related disorder [RCV004758004]\|not provided [RCV004710940]	likely benign\|uncertain significance	3	172925431	172925431	Human	3	name , trait , alternate_id
11598512	CV293866	single nucleotide variant	NM_031955.6(SPATA16):c.328A>C (p.Met110Leu)	Globozoospermia [RCV000406340]\|SPATA16-related disorder [RCV003910351]	likely benign\|uncertain significance	3	173117404	173117404	Human	3	name , trait , alternate_id
405286280	CV3192117	single nucleotide variant	NM_001166271.3(SPATA13):c.1991C>T (p.Thr664Met)	SPATA13-related disorder [RCV003924032]	likely benign	13	24249814	24249814	Human		name , trait , alternate_id
405292740	CV3192593	single nucleotide variant	NM_001166271.3(SPATA13):c.102G>A (p.Ser34=)	SPATA13-related disorder [RCV003929842]	likely benign	13	24223031	24223031	Human		name , trait , alternate_id
405292413	CV3196233	single nucleotide variant	NM_001166271.3(SPATA13):c.1439C>T (p.Pro480Leu)	SPATA13-related disorder [RCV003964495]	benign	13	24224368	24224368	Human		name , trait , alternate_id
405269044	CV3199188	single nucleotide variant	NM_001166271.3(SPATA13):c.266G>C (p.Arg89Pro)	SPATA13-related disorder [RCV003912289]	benign	13	24223195	24223195	Human		name , trait , alternate_id
405279755	CV3200103	single nucleotide variant	NM_001166271.3(SPATA13):c.3299C>T (p.Thr1100Met)	SPATA13-related disorder [RCV003977049]	likely benign	13	24297451	24297451	Human		name , trait , alternate_id
405288220	CV3200588	single nucleotide variant	NM_001166271.3(SPATA13):c.1967T>C (p.Val656Ala)	SPATA13-related disorder [RCV003982301]	benign	13	24249790	24249790	Human		name , trait , alternate_id
405258340	CV3203206	single nucleotide variant	NM_001166271.3(SPATA13):c.497C>T (p.Pro166Leu)	SPATA13-related disorder [RCV003941809]	likely benign	13	24223426	24223426	Human		name , trait , alternate_id
405294084	CV3203475	single nucleotide variant	NM_001166271.3(SPATA13):c.2544C>T (p.Asp848=)	SPATA13-related disorder [RCV003934008]	likely benign	13	24286827	24286827	Human		name , trait , alternate_id
405294089	CV3203482	single nucleotide variant	NM_001166271.3(SPATA13):c.2634G>C (p.Arg878=)	SPATA13-related disorder [RCV003934013]	likely benign	13	24286917	24286917	Human		name , trait , alternate_id
405286738	CV3205474	single nucleotide variant	NM_001166271.3(SPATA13):c.3216G>A (p.Leu1072=)	SPATA13-related disorder [RCV003959636]	likely benign	13	24297368	24297368	Human		name , trait , alternate_id
405255843	CV3208353	single nucleotide variant	NM_001166271.3(SPATA13):c.1154C>T (p.Ala385Val)	SPATA13-related disorder [RCV003939463]	benign	13	24224083	24224083	Human		name , trait , alternate_id
405274431	CV3208805	single nucleotide variant	NM_001166271.3(SPATA13):c.2437C>T (p.Arg813Cys)	SPATA13-related disorder [RCV003951608]	benign	13	24286349	24286349	Human		name , trait , alternate_id
405274463	CV3208826	single nucleotide variant	NM_001166271.3(SPATA13):c.1401C>T (p.Thr467=)	SPATA13-related disorder [RCV003951626]	likely benign	13	24224330	24224330	Human		name , trait , alternate_id
405271906	CV3209571	single nucleotide variant	NM_001166271.3(SPATA13):c.714C>T (p.Leu238=)	SPATA13-related disorder [RCV003949867]	likely benign	13	24223643	24223643	Human		name , trait , alternate_id
405273086	CV3210347	single nucleotide variant	NM_001166271.3(SPATA13):c.174C>T (p.Gly58=)	SPATA13-related disorder [RCV003914573]	likely benign	13	24223103	24223103	Human		name , trait , alternate_id
405255728	CV3210777	single nucleotide variant	NM_001166271.3(SPATA13):c.840C>T (p.Ala280=)	SPATA13-related disorder [RCV003939291]	likely benign	13	24223769	24223769	Human		name , trait , alternate_id
405258755	CV3215118	single nucleotide variant	NM_001166271.3(SPATA13):c.3087C>T (p.Tyr1029=)	SPATA13-related disorder [RCV003942173]	likely benign	13	24294745	24294745	Human		name , trait , alternate_id
405283433	CV3217145	single nucleotide variant	NM_001166271.3(SPATA13):c.1933C>T (p.Arg645Trp)	SPATA13-related disorder [RCV003979256]	benign	13	24249756	24249756	Human		name , trait , alternate_id
15168521	CV720304	single nucleotide variant	NM_031955.6(SPATA16):c.1708T>C (p.Ter570Gln)	SPATA16-related disorder [RCV003910397]\|not provided [RCV000881782]	benign	3	172889572	172889572	Human	1	name , trait , alternate_id
15162572	CV720305	single nucleotide variant	NM_031955.6(SPATA16):c.1707G>C (p.Arg569Ser)	SPATA16-related disorder [RCV003910398]\|not provided [RCV000881783]	benign	3	172889573	172889573	Human	1	name , trait , alternate_id
11591132	CV290327	single nucleotide variant	NM_031955.6(SPATA16):c.25T>C (p.Leu9=)	Globozoospermia [RCV000326199]	uncertain significance	3	173117707	173117707	Human	2	name
156105270	CV2387008	single nucleotide variant	NM_138796.4(SPATA17):c.5C>T (p.Ala2Val)	not specified [RCV004226760]	uncertain significance	1	217631383	217631383	Human		name
401904959	CV2827499	single nucleotide variant	NM_181727.2(SPATA12):c.36A>G (p.Leu12=)	not provided [RCV003437881]	likely benign	3	57073730	57073730	Human		name
405788865	CV3330111	single nucleotide variant	NM_145263.4(SPATA18):c.5C>T (p.Ala2Val)	not specified [RCV004460138]	uncertain significance	4	52051709	52051709	Human		name
11589490	CV289548	single nucleotide variant	NM_031955.6(SPATA16):c.105G>A (p.Ala35=)	Globozoospermia [RCV000310920]	uncertain significance	3	173117627	173117627	Human	2	name
597757534	CV3600851	single nucleotide variant	NM_174927.3(SPATA19):c.11C>T (p.Thr4Met)	not specified [RCV004868648]	uncertain significance	11	133845436	133845436	Human		name
28881966	CV888430	single nucleotide variant	NM_031955.6(SPATA16):c.117C>T (p.Asn39=)	Globozoospermia [RCV001149781]	uncertain significance	3	173117615	173117615	Human	2	name
156027492	CV2195489	single nucleotide variant	NM_031955.6(SPATA16):c.80C>G (p.Thr27Arg)	not specified [RCV004082712]	uncertain significance	3	173117652	173117652	Human		name
329383595	CV2425037	single nucleotide variant	NM_138796.4(SPATA17):c.74T>C (p.Val25Ala)	not specified [RCV004250693]	uncertain significance	1	217648887	217648887	Human		name
11585963	CV289546	single nucleotide variant	NM_031955.6(SPATA16):c.576C>T (p.Tyr192=)	Globozoospermia [RCV000284357]	uncertain significance	3	173117156	173117156	Human	2	name
11586474	CV293397	single nucleotide variant	NM_031955.6(SPATA16):c.828G>A (p.Glu276=)	Globozoospermia [RCV000288035]	uncertain significance	3	173019506	173019506	Human	2	name
11593335	CV293398	single nucleotide variant	NM_031955.6(SPATA16):c.720G>A (p.Arg240=)	Globozoospermia [RCV000347773]\|not provided [RCV004716048]	benign\|likely benign	3	173048987	173048987	Human	2	name
11657216	CV293400	single nucleotide variant	NM_031955.6(SPATA16):c.546T>C (p.Asp182=)	Globozoospermia [RCV000339414]	uncertain significance	3	173117186	173117186	Human	2	name
11584725	CV293410	single nucleotide variant	NM_031955.6(SPATA16):c.91A>T (p.Met31Leu)	Globozoospermia [RCV000275796]\|not specified [RCV004021899]	uncertain significance	3	173117641	173117641	Human	2	name
11597331	CV293864	single nucleotide variant	NM_031955.6(SPATA16):c.675C>T (p.Ser225=)	Globozoospermia [RCV000392766]\|not provided [RCV001691982]	benign\|likely benign	3	173049032	173049032	Human	2	name
405788663	CV3330063	single nucleotide variant	NM_181727.2(SPATA12):c.89T>A (p.Val30Asp)	not specified [RCV004460090]	uncertain significance	3	57073783	57073783	Human		name
405788831	CV3330102	single nucleotide variant	NM_138796.4(SPATA17):c.62G>C (p.Arg21Thr)	not specified [RCV004460129]	uncertain significance	1	217631440	217631440	Human		name
405788907	CV3330122	single nucleotide variant	NM_174927.3(SPATA19):c.80A>T (p.Asp27Val)	not specified [RCV004460149]	uncertain significance	11	133845189	133845189	Human		name
407510605	CV3481437	single nucleotide variant	NM_145263.4(SPATA18):c.88A>G (p.Thr30Ala)	not specified [RCV004672792]	uncertain significance	4	52060419	52060419	Human		name
597757499	CV3600837	single nucleotide variant	NM_031955.6(SPATA16):c.37G>A (p.Val13Met)	not specified [RCV004868641]	uncertain significance	3	173117695	173117695	Human		name
598248959	CV3922680	single nucleotide variant	NM_031955.6(SPATA16):c.46A>G (p.Ile16Val)	not specified [RCV005277517]	likely benign	3	173117686	173117686	Human		name
598249051	CV3922691	single nucleotide variant	NM_145263.4(SPATA18):c.95C>T (p.Thr32Met)	not specified [RCV005277528]	uncertain significance	4	52060426	52060426	Human		name
598249065	CV3922694	single nucleotide variant	NM_145263.4(SPATA18):c.47C>A (p.Thr16Lys)	not specified [RCV005277530]	uncertain significance	4	52051751	52051751	Human		name
15189680	CV697935	single nucleotide variant	NM_031955.6(SPATA16):c.53A>G (p.His18Arg)	Globozoospermia [RCV001149782]\|not provided [RCV000954251]	benign\|uncertain significance	3	173117679	173117679	Human	2	name
8630694	CV85849	single nucleotide variant	NM_031955.5(SPATA16):c.537C>T (p.Ala179=)	Malignant melanoma [RCV000065932]	not provided	3	173117195	173117195	Human		name
28870426	CV888422	single nucleotide variant	NM_031955.6(SPATA16):c.996G>A (p.Ala332=)	Globozoospermia [RCV001145364]	uncertain significance	3	172956762	172956762	Human	2	name
28870430	CV888423	single nucleotide variant	NM_031955.6(SPATA16):c.750T>C (p.His250=)	Globozoospermia [RCV001145365]	uncertain significance	3	173048957	173048957	Human	2	name
156142716	CV2296122	single nucleotide variant	NM_031955.6(SPATA16):c.227A>T (p.Asp76Val)	not specified [RCV004154055]	uncertain significance	3	173117505	173117505	Human		name
155908161	CV2302367	single nucleotide variant	NM_138796.4(SPATA17):c.274A>G (p.Asn92Asp)	not specified [RCV004161119]	uncertain significance	1	217669066	217669066	Human		name
155963934	CV2308328	single nucleotide variant	NM_138796.4(SPATA17):c.156C>G (p.Ile52Met)	not specified [RCV004164814]	uncertain significance	1	217648969	217648969	Human		name
156210554	CV2309758	single nucleotide variant	NM_174927.3(SPATA19):c.120T>A (p.His40Gln)	not specified [RCV004160882]	likely benign	11	133845149	133845149	Human		name
155971380	CV2335680	single nucleotide variant	NM_145263.4(SPATA18):c.200G>A (p.Arg67His)	not specified [RCV004193881]	likely benign	4	52060788	52060788	Human		name
156276677	CV2351954	single nucleotide variant	NM_031955.6(SPATA16):c.280A>G (p.Arg94Gly)	not specified [RCV004198086]	likely benign	3	173117452	173117452	Human		name
156156963	CV2359898	single nucleotide variant	NM_138796.4(SPATA17):c.256A>C (p.Met86Leu)	not specified [RCV004212748]	uncertain significance	1	217669048	217669048	Human		name
156129157	CV2364579	single nucleotide variant	NM_145263.4(SPATA18):c.173T>C (p.Leu58Pro)	not specified [RCV004217432]	uncertain significance	4	52060504	52060504	Human		name
156225656	CV2390651	single nucleotide variant	NM_001166271.3(SPATA13):c.8A>G (p.Gln3Arg)	not specified [RCV004239170]	uncertain significance	13	24222937	24222937	Human		name
401737124	CV2689571	single nucleotide variant	NM_174927.3(SPATA19):c.237T>G (p.His79Gln)	not specified [RCV004308396]	uncertain significance	11	133844539	133844539	Human		name
11588182	CV290319	single nucleotide variant	NM_031955.6(SPATA16):c.232G>A (p.Glu78Lys)	Globozoospermia [RCV000300819]\|not provided [RCV001683373]	benign\|likely benign	3	173117500	173117500	Human	2	name
11594127	CV290323	single nucleotide variant	NM_031955.6(SPATA16):c.149A>G (p.Asn50Ser)	Globozoospermia [RCV000355688]\|not provided [RCV000946775]	benign\|likely benign\|uncertain significance	3	173117583	173117583	Human	2	name
11584515	CV290325	single nucleotide variant	NM_031955.6(SPATA16):c.130T>A (p.Ser44Thr)	Globozoospermia [RCV000274552]\|not provided [RCV004716049]	benign\|likely benign	3	173117602	173117602	Human	2	name
11595454	CV290326	single nucleotide variant	NM_031955.6(SPATA16):c.104C>T (p.Ala35Val)	Globozoospermia [RCV000370363]\|not provided [RCV004694726]	uncertain significance	3	173117628	173117628	Human	2	name
11593887	CV293394	single nucleotide variant	NM_031955.6(SPATA16):c.1365G>T (p.Val455=)	Globozoospermia [RCV000353136]	likely benign\|uncertain significance	3	172916455	172916455	Human	2	name
11582723	CV293860	single nucleotide variant	NM_031955.6(SPATA16):c.1513C>T (p.Leu505=)	Globozoospermia [RCV000261704]	uncertain significance	3	172913735	172913735	Human	2	name
405788639	CV3330058	single nucleotide variant	NM_181727.2(SPATA12):c.187G>A (p.Ala63Thr)	not specified [RCV004460085]	uncertain significance	3	57073881	57073881	Human		name
405788805	CV3330095	single nucleotide variant	NM_031955.6(SPATA16):c.129G>A (p.Met43Ile)	not specified [RCV004460122]	uncertain significance	3	173117603	173117603	Human		name
405788881	CV3330115	single nucleotide variant	NM_174927.3(SPATA19):c.214T>C (p.Ser72Pro)	not specified [RCV004460142]	uncertain significance	11	133844562	133844562	Human		name
405788888	CV3330117	single nucleotide variant	NM_174927.3(SPATA19):c.265G>A (p.Val89Met)	not specified [RCV004460144]	uncertain significance	11	133844511	133844511	Human		name
407510602	CV3481434	single nucleotide variant	NM_031955.6(SPATA16):c.253A>C (p.Lys85Gln)	not specified [RCV004672791]	uncertain significance	3	173117479	173117479	Human		name
407510616	CV3481441	single nucleotide variant	NM_174927.3(SPATA19):c.227C>T (p.Pro76Leu)	not specified [RCV004672796]	uncertain significance	11	133844549	133844549	Human		name
407510620	CV3481443	single nucleotide variant	NM_174927.3(SPATA19):c.212T>C (p.Met71Thr)	not specified [RCV004672797]	uncertain significance	11	133844564	133844564	Human		name
597688644	CV3600804	single nucleotide variant	NM_181727.2(SPATA12):c.144C>A (p.His48Gln)	not specified [RCV004868616]	uncertain significance	3	57073838	57073838	Human		name
597757494	CV3600835	single nucleotide variant	NM_031955.6(SPATA16):c.152G>C (p.Cys51Ser)	not specified [RCV004868640]	uncertain significance	3	173117580	173117580	Human		name
597742119	CV3600841	single nucleotide variant	NM_138796.4(SPATA17):c.146G>A (p.Arg49Gln)	not specified [RCV004865013]	uncertain significance	1	217648959	217648959	Human		name
597757514	CV3600842	single nucleotide variant	NM_138796.4(SPATA17):c.145C>T (p.Arg49Trp)	not specified [RCV004868644]	uncertain significance	1	217648958	217648958	Human		name
597742133	CV3600848	single nucleotide variant	NM_145263.4(SPATA18):c.211G>A (p.Val71Met)	not specified [RCV004865016]	uncertain significance	4	52060799	52060799	Human		name
598238764	CV3922657	single nucleotide variant	NM_181727.2(SPATA12):c.175G>A (p.Val59Ile)	not specified [RCV005275890]	uncertain significance	3	57073869	57073869	Human		name
598248940	CV3922678	single nucleotide variant	NM_031955.6(SPATA16):c.124G>A (p.Glu42Lys)	not specified [RCV005277515]	uncertain significance	3	173117608	173117608	Human		name
598248978	CV3922682	single nucleotide variant	NM_031955.6(SPATA16):c.128T>C (p.Met43Thr)	not specified [RCV005277519]	uncertain significance	3	173117604	173117604	Human		name
598249044	CV3922690	single nucleotide variant	NM_138796.4(SPATA17):c.286G>C (p.Val96Leu)	not specified [RCV005277527]	uncertain significance	1	217669078	217669078	Human		name
598249058	CV3922693	single nucleotide variant	NM_145263.4(SPATA18):c.244C>G (p.Leu82Val)	not specified [RCV005277529]	uncertain significance	4	52060832	52060832	Human		name
598249080	CV3922696	single nucleotide variant	NM_145263.4(SPATA18):c.209G>A (p.Gly70Asp)	not specified [RCV005277532]	uncertain significance	4	52060797	52060797	Human		name
598249102	CV3922699	single nucleotide variant	NM_174927.3(SPATA19):c.232A>C (p.Thr78Pro)	not specified [RCV005277535]	uncertain significance	11	133844544	133844544	Human		name
598261598	CV3922701	single nucleotide variant	NM_174927.3(SPATA19):c.271A>G (p.Lys91Glu)	not specified [RCV005280014]	uncertain significance	11	133844334	133844334	Human		name
8625809	CV80933	single nucleotide variant	NM_145263.3(SPATA18):c.1209C>T (p.Pro403=)	Malignant melanoma [RCV000061010]	not provided	4	52079773	52079773	Human		name
8630923	CV86079	single nucleotide variant	NM_181727.1(SPATA12):c.184G>A (p.Gly62Arg)	Malignant melanoma [RCV000066163]	not provided	3	57073878	57073878	Human		name
28877065	CV888428	single nucleotide variant	NM_031955.6(SPATA16):c.251G>A (p.Arg84Gln)	Globozoospermia [RCV001148233]\|not specified [RCV004032758]	uncertain significance	3	173117481	173117481	Human	2	name
28877068	CV888429	single nucleotide variant	NM_031955.6(SPATA16):c.205A>G (p.Ile69Val)	Globozoospermia [RCV001148234]\|not specified [RCV004032759]	uncertain significance	3	173117527	173117527	Human	2	name
8595391	CV16450	single nucleotide variant	NM_031955.6(SPATA16):c.848G>A (p.Arg283Gln)	Globozoospermia [RCV000001476]\|not provided [RCV001476874]	pathogenic\|likely benign\|uncertain significance	3	173019486	173019486	Human	2	name
9687126	CV171379	single nucleotide variant	NM_145263.4(SPATA18):c.991G>A (p.Val331Ile)	Prostate cancer [RCV000149345]	uncertain significance	4	52077011	52077011	Human	2	name
156152355	CV2209359	single nucleotide variant	NM_145263.4(SPATA18):c.314C>T (p.Thr105Met)	not specified [RCV004093534]	uncertain significance	4	52062224	52062224	Human		name
155967022	CV2216782	single nucleotide variant	NM_174927.3(SPATA19):c.337C>G (p.Arg113Gly)	not specified [RCV004083223]	uncertain significance	11	133844268	133844268	Human		name
156385339	CV2227888	single nucleotide variant	NM_145263.4(SPATA18):c.467C>T (p.Ser156Leu)	not specified [RCV004096153]	uncertain significance	4	52069865	52069865	Human		name
156029496	CV2238320	single nucleotide variant	NM_145263.4(SPATA18):c.646C>G (p.Gln216Glu)	not specified [RCV004113396]	uncertain significance	4	52072044	52072044	Human		name
156025523	CV2242247	single nucleotide variant	NM_145263.4(SPATA18):c.868C>A (p.Arg290Ser)	not specified [RCV004111271]	uncertain significance	4	52076888	52076888	Human		name
155986113	CV2247940	single nucleotide variant	NM_031955.6(SPATA16):c.454T>G (p.Cys152Gly)	not specified [RCV004121375]	uncertain significance	3	173117278	173117278	Human		name
156078479	CV2248490	single nucleotide variant	NM_138796.4(SPATA17):c.544T>C (p.Phe182Leu)	not specified [RCV004119620]	uncertain significance	1	217774358	217774358	Human		name
155966707	CV2261939	single nucleotide variant	NM_001166271.3(SPATA13):c.20G>A (p.Arg7Gln)	not specified [RCV004127982]	uncertain significance	13	24222949	24222949	Human		name
155947789	CV2262792	single nucleotide variant	NM_181727.2(SPATA12):c.440T>C (p.Leu147Pro)	not specified [RCV004130960]	uncertain significance	3	57074134	57074134	Human		name
156239553	CV2269187	single nucleotide variant	NM_138796.4(SPATA17):c.445G>A (p.Ala149Thr)	not specified [RCV004130347]	uncertain significance	1	217742024	217742024	Human		name
156271465	CV2286385	single nucleotide variant	NM_138796.4(SPATA17):c.503T>A (p.Leu168His)	not specified [RCV004139911]	uncertain significance	1	217742082	217742082	Human		name
156176808	CV2299937	single nucleotide variant	NM_138796.4(SPATA17):c.585G>T (p.Lys195Asn)	not specified [RCV004149070]	uncertain significance	1	217774399	217774399	Human		name
156050336	CV2319369	single nucleotide variant	NM_174927.3(SPATA19):c.488C>T (p.Ser163Phe)	not specified [RCV004180189]	uncertain significance	11	133842055	133842055	Human		name
155979325	CV2339052	single nucleotide variant	NM_145263.4(SPATA18):c.778C>T (p.Pro260Ser)	not specified [RCV004187099]	uncertain significance	4	52076798	52076798	Human		name
156067181	CV2356628	single nucleotide variant	NM_138796.4(SPATA17):c.998G>C (p.Cys333Ser)	not specified [RCV004201991]	uncertain significance	1	217801843	217801843	Human		name
156248597	CV2357152	single nucleotide variant	NM_145263.4(SPATA18):c.394C>T (p.Arg132Trp)	not specified [RCV004206942]	uncertain significance	4	52062304	52062304	Human		name
155911292	CV2362391	single nucleotide variant	NM_181727.2(SPATA12):c.412G>A (p.Glu138Lys)	not specified [RCV004213019]	uncertain significance	3	57074106	57074106	Human		name
155994227	CV2377452	single nucleotide variant	NM_138796.4(SPATA17):c.898A>G (p.Lys300Glu)	not specified [RCV004225624]	uncertain significance	1	217801743	217801743	Human		name
156090695	CV2384525	single nucleotide variant	NM_138796.4(SPATA17):c.370G>A (p.Val124Ile)	not specified [RCV004232324]	uncertain significance	1	217683336	217683336	Human		name
329349959	CV2438563	single nucleotide variant	NM_181727.2(SPATA12):c.316T>A (p.Ser106Thr)	not specified [RCV004261743]	uncertain significance	3	57074010	57074010	Human		name
329354382	CV2448078	single nucleotide variant	NM_145263.4(SPATA18):c.550C>G (p.Arg184Gly)	not specified [RCV004263304]	uncertain significance	4	52071948	52071948	Human		name
329395962	CV2451817	single nucleotide variant	NM_145263.4(SPATA18):c.815G>A (p.Ser272Asn)	not specified [RCV004276499]	uncertain significance	4	52076835	52076835	Human		name
329350076	CV2453567	single nucleotide variant	NM_181727.2(SPATA12):c.473C>T (p.Thr158Ile)	not specified [RCV004269242]	uncertain significance	3	57074167	57074167	Human		name
401727803	CV2678466	single nucleotide variant	NM_174927.3(SPATA19):c.484C>A (p.Pro162Thr)	not specified [RCV004292484]	uncertain significance	11	133842059	133842059	Human		name
401766761	CV2680138	single nucleotide variant	NM_174927.3(SPATA19):c.368G>A (p.Arg123His)	not specified [RCV004286624]	uncertain significance	11	133842554	133842554	Human		name
401757961	CV2685649	single nucleotide variant	NM_001166271.3(SPATA13):c.16G>A (p.Val6Met)	not specified [RCV004294656]	uncertain significance	13	24222945	24222945	Human		name
401743675	CV2688004	single nucleotide variant	NM_174927.3(SPATA19):c.305A>T (p.Asn102Ile)	not specified [RCV004305079]	uncertain significance	11	133844300	133844300	Human		name
401737223	CV2718037	single nucleotide variant	NM_145263.4(SPATA18):c.395G>A (p.Arg132Gln)	not specified [RCV004315763]	uncertain significance	4	52062305	52062305	Human		name
401763109	CV2720198	single nucleotide variant	NM_031955.6(SPATA16):c.400G>A (p.Gly134Ser)	not specified [RCV004325537]	uncertain significance	3	173117332	173117332	Human		name
401855831	CV2757518	single nucleotide variant	NM_138796.4(SPATA17):c.598A>G (p.Thr200Ala)	not specified [RCV004340897]	uncertain significance	1	217774412	217774412	Human		name
401881981	CV2784026	single nucleotide variant	NM_138796.4(SPATA17):c.706A>G (p.Asn236Asp)	not specified [RCV004362432]	likely benign	1	217774520	217774520	Human		name
401936776	CV2816048	single nucleotide variant	NM_138796.4(SPATA17):c.863A>T (p.Asn288Ile)	not provided [RCV003414774]	likely benign	1	217782313	217782313	Human		name
401936773	CV2816049	single nucleotide variant	NM_138796.4(SPATA17):c.998G>A (p.Cys333Tyr)	not provided [RCV003414775]	likely benign	1	217801843	217801843	Human		name
11598208	CV290316	single nucleotide variant	NM_031955.6(SPATA16):c.440G>A (p.Gly147Glu)	Globozoospermia [RCV000402731]\|not provided [RCV001691983]	benign\|likely benign	3	173117292	173117292	Human	2	name
11594035	CV290318	single nucleotide variant	NM_031955.6(SPATA16):c.397A>G (p.Met133Val)	Globozoospermia [RCV000354596]\|not provided [RCV001691984]	benign	3	173117335	173117335	Human	2	name
11591802	CV293395	single nucleotide variant	NM_031955.6(SPATA16):c.873G>A (p.Met291Ile)	Globozoospermia [RCV000332674]	uncertain significance	3	172977028	172977028	Human	2	name
11588615	CV293409	single nucleotide variant	NM_031955.6(SPATA16):c.430A>C (p.Met144Leu)	Globozoospermia [RCV000304191]	uncertain significance	3	173117302	173117302	Human	2	name
11587615	CV293862	single nucleotide variant	NM_031955.6(SPATA16):c.995C>T (p.Ala332Val)	Globozoospermia [RCV000296368]	uncertain significance	3	172956763	172956763	Human	2	name
405788653	CV3330061	single nucleotide variant	NM_181727.2(SPATA12):c.437G>A (p.Arg146Lys)	not specified [RCV004460088]	uncertain significance	3	57074131	57074131	Human		name
405788658	CV3330062	single nucleotide variant	NM_181727.2(SPATA12):c.490A>G (p.Asn164Asp)	not specified [RCV004460089]	likely benign	3	57074184	57074184	Human		name
405788819	CV3330099	single nucleotide variant	NM_031955.6(SPATA16):c.980T>G (p.Met327Arg)	not specified [RCV004460126]	uncertain significance	3	172956778	172956778	Human		name
405788823	CV3330100	single nucleotide variant	NM_138796.4(SPATA17):c.302G>A (p.Arg101Gln)	not specified [RCV004460127]	uncertain significance	1	217683268	217683268	Human		name
405788827	CV3330101	single nucleotide variant	NM_138796.4(SPATA17):c.424A>G (p.Lys142Glu)	not specified [RCV004460128]	uncertain significance	1	217742003	217742003	Human		name
405788835	CV3330103	single nucleotide variant	NM_138796.4(SPATA17):c.659G>T (p.Cys220Phe)	not specified [RCV004460130]	uncertain significance	1	217774473	217774473	Human		name
405788838	CV3330104	single nucleotide variant	NM_138796.4(SPATA17):c.740T>C (p.Ile247Thr)	not specified [RCV004460131]	uncertain significance	1	217782190	217782190	Human		name
405788842	CV3330105	single nucleotide variant	NM_138796.4(SPATA17):c.924G>T (p.Met308Ile)	not specified [RCV004460132]	uncertain significance	1	217801769	217801769	Human		name
405788846	CV3330106	single nucleotide variant	NM_138796.4(SPATA17):c.971G>A (p.Arg324Gln)	not specified [RCV004460133]	uncertain significance	1	217801816	217801816	Human		name
405788869	CV3330112	single nucleotide variant	NM_145263.4(SPATA18):c.721G>T (p.Ala241Ser)	not specified [RCV004460139]	uncertain significance	4	52072119	52072119	Human		name
405788873	CV3330113	single nucleotide variant	NM_145263.4(SPATA18):c.865A>G (p.Asn289Asp)	not specified [RCV004460140]	uncertain significance	4	52076885	52076885	Human		name
405788877	CV3330114	single nucleotide variant	NM_145263.4(SPATA18):c.968G>A (p.Arg323His)	not specified [RCV004460141]	uncertain significance	4	52076988	52076988	Human		name
405788892	CV3330118	single nucleotide variant	NM_174927.3(SPATA19):c.352A>G (p.Arg118Gly)	not specified [RCV004460145]	uncertain significance	11	133844253	133844253	Human		name
405788896	CV3330119	single nucleotide variant	NM_174927.3(SPATA19):c.407T>C (p.Met136Thr)	not specified [RCV004460146]	uncertain significance	11	133842515	133842515	Human		name
405788899	CV3330120	single nucleotide variant	NM_174927.3(SPATA19):c.446G>A (p.Arg149His)	not specified [RCV004460147]	likely benign	11	133842097	133842097	Human		name
405788903	CV3330121	single nucleotide variant	NM_174927.3(SPATA19):c.482G>A (p.Arg161Lys)	not specified [RCV004460148]	uncertain significance	11	133842061	133842061	Human		name
407525483	CV3481436	single nucleotide variant	NM_031955.6(SPATA16):c.482T>C (p.Leu161Ser)	not specified [RCV004679279]	uncertain significance	3	173117250	173117250	Human		name
407510610	CV3481439	single nucleotide variant	NM_145263.4(SPATA18):c.890C>T (p.Ala297Val)	not specified [RCV004672794]	uncertain significance	4	52076910	52076910	Human		name
407525486	CV3481442	single nucleotide variant	NM_174927.3(SPATA19):c.452C>T (p.Thr151Ile)	not specified [RCV004679280]	uncertain significance	11	133842091	133842091	Human		name
596925715	CV3542127	single nucleotide variant	NM_031955.6(SPATA16):c.787C>T (p.Arg263Trp)	Globozoospermia [RCV004795843]	uncertain significance	3	173019547	173019547	Human	2	name
597688634	CV3600803	single nucleotide variant	NM_181727.2(SPATA12):c.547A>C (p.Asn183His)	not specified [RCV004868615]	uncertain significance	3	57074241	57074241	Human		name
597757475	CV3600831	single nucleotide variant	NM_031955.6(SPATA16):c.488T>C (p.Val163Ala)	not specified [RCV004868636]	uncertain significance	3	173117244	173117244	Human		name
597757480	CV3600832	single nucleotide variant	NM_031955.6(SPATA16):c.614T>A (p.Leu205His)	not specified [RCV004868637]	uncertain significance	3	173049093	173049093	Human		name
597757485	CV3600833	single nucleotide variant	NM_031955.6(SPATA16):c.941T>C (p.Ile314Thr)	not specified [RCV004868638]	uncertain significance	3	172956817	172956817	Human		name
597757490	CV3600834	single nucleotide variant	NM_031955.6(SPATA16):c.560A>G (p.Tyr187Cys)	not specified [RCV004868639]	uncertain significance	3	173117172	173117172	Human		name
597757509	CV3600839	single nucleotide variant	NM_138796.4(SPATA17):c.788G>A (p.Arg263Gln)	not specified [RCV004868643]	uncertain significance	1	217782238	217782238	Human		name
597742114	CV3600840	single nucleotide variant	NM_138796.4(SPATA17):c.323G>A (p.Arg108Gln)	not specified [RCV004865012]	uncertain significance	1	217683289	217683289	Human		name
597757519	CV3600843	single nucleotide variant	NM_145263.4(SPATA18):c.769A>T (p.Ser257Cys)	not specified [RCV004868645]	uncertain significance	4	52076789	52076789	Human		name
597757524	CV3600845	single nucleotide variant	NM_145263.4(SPATA18):c.541G>A (p.Glu181Lys)	not specified [RCV004868646]	uncertain significance	4	52071939	52071939	Human		name
597757529	CV3600846	single nucleotide variant	NM_145263.4(SPATA18):c.420C>G (p.Asp140Glu)	not specified [RCV004868647]	uncertain significance	4	52062330	52062330	Human		name
597742142	CV3600850	single nucleotide variant	NM_145263.4(SPATA18):c.793C>T (p.Arg265Cys)	not specified [RCV004865018]	uncertain significance	4	52076813	52076813	Human		name
597757539	CV3600852	single nucleotide variant	NM_174927.3(SPATA19):c.428T>C (p.Val143Ala)	not specified [RCV004868649]	uncertain significance	11	133842494	133842494	Human		name
597757544	CV3600853	single nucleotide variant	NM_174927.3(SPATA19):c.482G>C (p.Arg161Thr)	not specified [RCV004868650]	uncertain significance	11	133842061	133842061	Human		name
597742146	CV3600854	single nucleotide variant	NM_174927.3(SPATA19):c.301G>A (p.Ala101Thr)	not specified [RCV004865019]	uncertain significance	11	133844304	133844304	Human		name
598248950	CV3922679	single nucleotide variant	NM_031955.6(SPATA16):c.668T>C (p.Ile223Thr)	not specified [RCV005277516]	uncertain significance	3	173049039	173049039	Human		name
598248969	CV3922681	single nucleotide variant	NM_031955.6(SPATA16):c.436A>G (p.Thr146Ala)	not specified [RCV005277518]	uncertain significance	3	173117296	173117296	Human		name
598248994	CV3922684	single nucleotide variant	NM_138796.4(SPATA17):c.760C>T (p.Arg254Cys)	not specified [RCV005277521]	uncertain significance	1	217782210	217782210	Human		name
598249002	CV3922685	single nucleotide variant	NM_138796.4(SPATA17):c.841G>A (p.Glu281Lys)	not specified [RCV005277522]	uncertain significance	1	217782291	217782291	Human		name
598249010	CV3922686	single nucleotide variant	NM_138796.4(SPATA17):c.725G>A (p.Gly242Glu)	not specified [RCV005277523]	uncertain significance	1	217782175	217782175	Human		name
598249018	CV3922687	single nucleotide variant	NM_138796.4(SPATA17):c.864T>A (p.Asn288Lys)	not specified [RCV005277524]	uncertain significance	1	217782314	217782314	Human		name
598249026	CV3922688	single nucleotide variant	NM_138796.4(SPATA17):c.974G>C (p.Ser325Thr)	not specified [RCV005277525]	uncertain significance	1	217801819	217801819	Human		name
598249035	CV3922689	single nucleotide variant	NM_138796.4(SPATA17):c.807T>A (p.Asp269Glu)	not specified [RCV005277526]	uncertain significance	1	217782257	217782257	Human		name
598238776	CV3922692	single nucleotide variant	NM_145263.4(SPATA18):c.914G>A (p.Arg305Gln)	not specified [RCV005275892]	uncertain significance	4	52076934	52076934	Human		name
598261593	CV3922700	single nucleotide variant	NM_174927.3(SPATA19):c.344A>C (p.Gln115Pro)	not specified [RCV005280013]	uncertain significance	11	133844261	133844261	Human		name
15177132	CV708688	single nucleotide variant	NM_031955.6(SPATA16):c.736C>T (p.Leu246Phe)	Globozoospermia [RCV001145366]\|not provided [RCV000973351]	likely benign\|uncertain significance	3	173048971	173048971	Human	2	name
15165336	CV709386	single nucleotide variant	NM_145263.4(SPATA18):c.800G>A (p.Arg267His)	not provided [RCV000970926]	likely benign	4	52076820	52076820	Human		name
15184537	CV720991	single nucleotide variant	NM_145263.4(SPATA18):c.701G>A (p.Arg234Gln)	not provided [RCV000886472]	likely benign	4	52072099	52072099	Human		name
15163548	CV720992	single nucleotide variant	NM_145263.4(SPATA18):c.875A>G (p.Lys292Arg)	not provided [RCV000881994]	benign	4	52076895	52076895	Human		name
8625570	CV80694	single nucleotide variant	NM_031955.5(SPATA16):c.811G>A (p.Val271Met)	Malignant melanoma [RCV000060771]	not provided	3	173019523	173019523	Human		name
8625808	CV80932	single nucleotide variant	NM_145263.3(SPATA18):c.779C>T (p.Pro260Leu)	Malignant melanoma [RCV000061009]	not provided	4	52076799	52076799	Human		name
28870434	CV888424	single nucleotide variant	NM_031955.6(SPATA16):c.719G>A (p.Arg240Gln)	Globozoospermia [RCV001145367]	uncertain significance	3	173048988	173048988	Human	2	name
28874664	CV888425	single nucleotide variant	NM_031955.6(SPATA16):c.490C>T (p.His164Tyr)	Globozoospermia [RCV001147309]	uncertain significance	3	173117242	173117242	Human	2	name
28874666	CV888426	single nucleotide variant	NM_031955.6(SPATA16):c.430A>G (p.Met144Val)	Globozoospermia [RCV001147310]	uncertain significance	3	173117302	173117302	Human	2	name
28877061	CV888427	single nucleotide variant	NM_031955.6(SPATA16):c.406C>T (p.Arg136Cys)	Globozoospermia [RCV001148232]	uncertain significance	3	173117326	173117326	Human	2	name
156267664	CV2198839	single nucleotide variant	NM_031955.6(SPATA16):c.1457C>T (p.Ala486Val)	not specified [RCV004077878]	uncertain significance	3	172916363	172916363	Human		name
156179512	CV2201663	single nucleotide variant	NM_031955.6(SPATA16):c.1295G>A (p.Arg432Gln)	not specified [RCV004082119]	uncertain significance	3	172924251	172924251	Human		name
155971202	CV2237374	single nucleotide variant	NM_031955.6(SPATA16):c.1010C>T (p.Ala337Val)	not specified [RCV004104563]	uncertain significance	3	172956748	172956748	Human		name
155985108	CV2241193	single nucleotide variant	NM_001166271.3(SPATA13):c.86C>T (p.Ala29Val)	not specified [RCV004104214]	uncertain significance	13	24223015	24223015	Human		name
156277593	CV2252017	single nucleotide variant	NM_145263.4(SPATA18):c.1571G>A (p.Arg524Gln)	not specified [RCV004122056]	uncertain significance	4	52094534	52094534	Human		name
156369457	CV2263339	single nucleotide variant	NM_145263.4(SPATA18):c.1535G>A (p.Cys512Tyr)	not specified [RCV004133611]	uncertain significance	4	52084971	52084971	Human		name
156030373	CV2278713	single nucleotide variant	NM_031955.6(SPATA16):c.1451A>C (p.Glu484Ala)	not specified [RCV004134907]	uncertain significance	3	172916369	172916369	Human		name
156254892	CV2280930	single nucleotide variant	NM_001166271.3(SPATA13):c.44A>G (p.Asn15Ser)	not specified [RCV004145172]	uncertain significance	13	24222973	24222973	Human		name
155906112	CV2283356	single nucleotide variant	NM_031955.6(SPATA16):c.1687C>A (p.Leu563Ile)	not specified [RCV004146010]	uncertain significance	3	172889593	172889593	Human		name
156175552	CV2317243	single nucleotide variant	NM_001166271.3(SPATA13):c.70G>A (p.Gly24Arg)	not specified [RCV004178740]	uncertain significance	13	24222999	24222999	Human		name
156117009	CV2349430	single nucleotide variant	NM_145263.4(SPATA18):c.1352G>C (p.Cys451Ser)	not specified [RCV004199357]	uncertain significance	4	52079916	52079916	Human		name
156067114	CV2356607	single nucleotide variant	NM_145263.4(SPATA18):c.1376C>T (p.Ser459Leu)	not specified [RCV004201973]	uncertain significance	4	52082407	52082407	Human		name
156249423	CV2358882	single nucleotide variant	NM_145263.4(SPATA18):c.1541G>A (p.Arg514His)	not specified [RCV004212224]	uncertain significance	4	52084977	52084977	Human		name
156080934	CV2384699	single nucleotide variant	NM_031955.6(SPATA16):c.1076A>G (p.Tyr359Cys)	not specified [RCV004232472]	uncertain significance	3	172956682	172956682	Human		name
156103680	CV2386918	single nucleotide variant	NM_145263.4(SPATA18):c.1000A>G (p.Ile334Val)	not specified [RCV004233549]	uncertain significance	4	52077020	52077020	Human		name
156228104	CV2392879	single nucleotide variant	NM_031955.6(SPATA16):c.1600G>A (p.Glu534Lys)	not specified [RCV004247231]	uncertain significance	3	172889680	172889680	Human		name
329380556	CV2444449	single nucleotide variant	NM_031955.6(SPATA16):c.1012G>C (p.Asp338His)	not specified [RCV004263184]	uncertain significance	3	172956746	172956746	Human		name
329352339	CV2452888	single nucleotide variant	NM_031955.6(SPATA16):c.1319T>C (p.Ile440Thr)	not specified [RCV004277532]	uncertain significance	3	172924227	172924227	Human		name
401745389	CV2681255	single nucleotide variant	NM_031955.6(SPATA16):c.1613A>G (p.Tyr538Cys)	not specified [RCV004289389]	uncertain significance	3	172889667	172889667	Human		name
401755331	CV2682453	single nucleotide variant	NM_031955.6(SPATA16):c.1320T>G (p.Ile440Met)	not specified [RCV004290479]	uncertain significance	3	172924226	172924226	Human		name
401769901	CV2693131	single nucleotide variant	NM_145263.4(SPATA18):c.1024G>C (p.Ala342Pro)	not specified [RCV004308662]	uncertain significance	4	52078738	52078738	Human		name
401761100	CV2706215	single nucleotide variant	NM_145263.4(SPATA18):c.1184T>C (p.Val395Ala)	not specified [RCV004314888]	uncertain significance	4	52079748	52079748	Human		name
401727144	CV2714823	single nucleotide variant	NM_145263.4(SPATA18):c.1199A>G (p.Asn400Ser)	not specified [RCV004320382]	uncertain significance	4	52079763	52079763	Human		name
401764024	CV2717200	single nucleotide variant	NM_001166271.3(SPATA13):c.44A>T (p.Asn15Ile)	not specified [RCV004324055]	uncertain significance	13	24222973	24222973	Human		name
401781657	CV2722208	single nucleotide variant	NM_031955.6(SPATA16):c.1246G>T (p.Gly416Cys)	not specified [RCV004328773]	uncertain significance	3	172924300	172924300	Human		name
401856360	CV2754638	single nucleotide variant	NM_145263.4(SPATA18):c.1251T>G (p.Ser417Arg)	not specified [RCV004339311]	uncertain significance	4	52079815	52079815	Human		name
11594393	CV289538	single nucleotide variant	NM_031955.6(SPATA16):c.1526C>T (p.Ala509Val)	Globozoospermia [RCV000358764]\|not provided [RCV004710939]	likely benign\|uncertain significance	3	172913722	172913722	Human	2	name
11596763	CV289543	single nucleotide variant	NM_031955.6(SPATA16):c.1117G>A (p.Asp373Asn)	Globozoospermia [RCV000386087]	uncertain significance	3	172925457	172925457	Human	2	name
11590444	CV290312	single nucleotide variant	NM_031955.6(SPATA16):c.1401G>T (p.Gln467His)	Globozoospermia [RCV000319274]	uncertain significance	3	172916419	172916419	Human	2	name
11644918	CV293861	single nucleotide variant	NM_031955.6(SPATA16):c.1324A>G (p.Ser442Gly)	Globozoospermia [RCV000262456]	uncertain significance	3	172924222	172924222	Human	2	name
405788802	CV3330094	single nucleotide variant	NM_031955.6(SPATA16):c.1268T>C (p.Val423Ala)	not specified [RCV004460121]	uncertain significance	3	172924278	172924278	Human		name
405788808	CV3330096	single nucleotide variant	NM_031955.6(SPATA16):c.1307T>C (p.Ile436Thr)	not specified [RCV004460123]	uncertain significance	3	172924239	172924239	Human		name
405788812	CV3330097	single nucleotide variant	NM_031955.6(SPATA16):c.1491G>C (p.Gln497His)	not specified [RCV004460124]	uncertain significance	3	172916329	172916329	Human		name
405788815	CV3330098	single nucleotide variant	NM_031955.6(SPATA16):c.1691A>G (p.Gln564Arg)	not specified [RCV004460125]	uncertain significance	3	172889589	172889589	Human		name
405788850	CV3330107	single nucleotide variant	NM_145263.4(SPATA18):c.1012G>A (p.Ala338Thr)	not specified [RCV004460134]	uncertain significance	4	52077032	52077032	Human		name
405788853	CV3330108	single nucleotide variant	NM_145263.4(SPATA18):c.1103C>T (p.Ser368Leu)	not specified [RCV004460135]	uncertain significance	4	52078817	52078817	Human		name
405788857	CV3330109	single nucleotide variant	NM_145263.4(SPATA18):c.1330G>A (p.Asp444Asn)	not specified [RCV004460136]	uncertain significance	4	52079894	52079894	Human		name
405788861	CV3330110	single nucleotide variant	NM_145263.4(SPATA18):c.1493G>A (p.Arg498Gln)	not specified [RCV004460137]	uncertain significance	4	52084929	52084929	Human		name
407525481	CV3481435	single nucleotide variant	NM_031955.6(SPATA16):c.1610T>C (p.Leu537Pro)	not specified [RCV004679278]	uncertain significance	3	172889670	172889670	Human		name
407510608	CV3481438	single nucleotide variant	NM_145263.4(SPATA18):c.1337A>C (p.Glu446Ala)	not specified [RCV004672793]	uncertain significance	4	52079901	52079901	Human		name
407510613	CV3481440	single nucleotide variant	NM_145263.4(SPATA18):c.1205A>G (p.Asn402Ser)	not specified [RCV004672795]	uncertain significance	4	52079769	52079769	Human		name
597742111	CV3600836	single nucleotide variant	NM_031955.6(SPATA16):c.1442C>T (p.Ala481Val)	not specified [RCV004865011]	uncertain significance	3	172916378	172916378	Human		name
597757504	CV3600838	single nucleotide variant	NM_031955.6(SPATA16):c.1394T>A (p.Leu465His)	not specified [RCV004868642]	uncertain significance	3	172916426	172916426	Human		name
597742124	CV3600844	single nucleotide variant	NM_145263.4(SPATA18):c.1408G>A (p.Val470Met)	not specified [RCV004865014]	uncertain significance	4	52082439	52082439	Human		name
597742128	CV3600847	single nucleotide variant	NM_145263.4(SPATA18):c.1357T>C (p.Tyr453His)	not specified [RCV004865015]	uncertain significance	4	52082388	52082388	Human		name
597742137	CV3600849	single nucleotide variant	NM_145263.4(SPATA18):c.1573A>T (p.Ser525Cys)	not specified [RCV004865017]	uncertain significance	4	52094536	52094536	Human		name
598248931	CV3922677	single nucleotide variant	NM_031955.6(SPATA16):c.1589T>C (p.Val530Ala)	not specified [RCV005277514]	uncertain significance	3	172889691	172889691	Human		name
598248985	CV3922683	single nucleotide variant	NM_031955.6(SPATA16):c.1423T>A (p.Ser475Thr)	not specified [RCV005277520]	uncertain significance	3	172916397	172916397	Human		name
598249073	CV3922695	single nucleotide variant	NM_145263.4(SPATA18):c.1084A>G (p.Thr362Ala)	not specified [RCV005277531]	uncertain significance	4	52078798	52078798	Human		name
598249088	CV3922697	single nucleotide variant	NM_145263.4(SPATA18):c.1178A>G (p.Asn393Ser)	not specified [RCV005277533]	uncertain significance	4	52078892	52078892	Human		name
598249095	CV3922698	single nucleotide variant	NM_145263.4(SPATA18):c.1423A>G (p.Met475Val)	not specified [RCV005277534]	uncertain significance	4	52082454	52082454	Human		name
28876734	CV888419	single nucleotide variant	NM_031955.6(SPATA16):c.1577T>C (p.Met526Thr)	Globozoospermia [RCV001148127]\|not provided [RCV004711547]	likely benign	3	172913671	172913671	Human	2	name
28881598	CV888420	single nucleotide variant	NM_031955.6(SPATA16):c.1389C>A (p.Ser463Arg)	Globozoospermia [RCV001149676]	uncertain significance	3	172916431	172916431	Human	2	name
28881605	CV888421	single nucleotide variant	NM_031955.6(SPATA16):c.1361G>A (p.Gly454Asp)	Globozoospermia [RCV001149677]	uncertain significance	3	172916459	172916459	Human	2	name
155977784	CV2226468	single nucleotide variant	NM_001166271.3(SPATA13):c.124G>A (p.Val42Met)	not specified [RCV004099671]	uncertain significance	13	24223053	24223053	Human		name
155947707	CV2245758	single nucleotide variant	NM_001166271.3(SPATA13):c.133C>T (p.Leu45Phe)	not specified [RCV004111619]	uncertain significance	13	24223062	24223062	Human		name
156286236	CV2292063	single nucleotide variant	NM_001166271.3(SPATA13):c.218T>C (p.Val73Ala)	not specified [RCV004160336]	uncertain significance	13	24223147	24223147	Human		name
155998585	CV2373312	single nucleotide variant	NM_001166271.3(SPATA13):c.191A>T (p.Glu64Val)	not specified [RCV004220022]	uncertain significance	13	24223120	24223120	Human		name
401752249	CV2723172	single nucleotide variant	NM_001166271.3(SPATA13):c.151G>A (p.Val51Ile)	not specified [RCV004329416]	uncertain significance	13	24223080	24223080	Human		name
597742087	CV3600811	single nucleotide variant	NM_001166271.3(SPATA13):c.221G>A (p.Arg74His)	not specified [RCV004865006]	uncertain significance	13	24223150	24223150	Human		name
597757429	CV3600819	single nucleotide variant	NM_001166271.3(SPATA13):c.175G>C (p.Asp59His)	not specified [RCV004868626]	uncertain significance	13	24223104	24223104	Human		name
598248850	CV3922665	single nucleotide variant	NM_001166271.3(SPATA13):c.223C>A (p.Leu75Ile)	not specified [RCV005277503]	uncertain significance	13	24223152	24223152	Human		name
598248915	CV3922675	single nucleotide variant	NM_001166271.3(SPATA13):c.233C>T (p.Thr78Ile)	not specified [RCV005277512]	uncertain significance	13	24223162	24223162	Human		name
156399525	CV2205172	single nucleotide variant	NM_001166271.3(SPATA13):c.418T>G (p.Ser140Ala)	not specified [RCV004077767]	uncertain significance	13	24223347	24223347	Human		name
156329105	CV2213764	single nucleotide variant	NM_001166271.3(SPATA13):c.419C>T (p.Ser140Leu)	not specified [RCV004089829]	likely benign	13	24223348	24223348	Human		name
156025500	CV2242245	single nucleotide variant	NM_001166271.3(SPATA13):c.523C>T (p.Pro175Ser)	not specified [RCV004111270]	uncertain significance	13	24223452	24223452	Human		name
156116794	CV2283013	single nucleotide variant	NM_001166271.3(SPATA13):c.496C>G (p.Pro166Ala)	not specified [RCV004143636]	uncertain significance	13	24223425	24223425	Human		name
156287638	CV2301260	single nucleotide variant	NM_001166271.3(SPATA13):c.395A>T (p.Asn132Ile)	not specified [RCV004160441]	uncertain significance	13	24223324	24223324	Human		name
156092241	CV2302494	single nucleotide variant	NM_001166271.3(SPATA13):c.835A>G (p.Thr279Ala)	not specified [RCV004161219]	uncertain significance	13	24223764	24223764	Human		name
156198039	CV2306843	single nucleotide variant	NM_001166271.3(SPATA13):c.768C>G (p.Asp256Glu)	not specified [RCV004159409]	uncertain significance	13	24223697	24223697	Human		name
329381263	CV2464604	single nucleotide variant	NM_001166271.3(SPATA13):c.579C>A (p.Phe193Leu)	not specified [RCV004278294]	uncertain significance	13	24223508	24223508	Human		name
401730100	CV2700429	single nucleotide variant	NM_001166271.3(SPATA13):c.884C>T (p.Thr295Ile)	not specified [RCV004311073]	uncertain significance	13	24223813	24223813	Human		name
401896809	CV2788806	single nucleotide variant	NM_001166271.3(SPATA13):c.790A>G (p.Ser264Gly)	not specified [RCV004361265]	uncertain significance	13	24223719	24223719	Human		name
401934103	CV2813769	single nucleotide variant	NM_001166271.3(SPATA13):c.3741C>T (p.Val1247=)	not provided [RCV003410986]	likely benign	13	24302680	24302680	Human		name
405788778	CV3330088	single nucleotide variant	NM_001166271.3(SPATA13):c.383G>A (p.Arg128Gln)	not specified [RCV004460115]	uncertain significance	13	24223312	24223312	Human		name
405788783	CV3330089	single nucleotide variant	NM_001166271.3(SPATA13):c.500G>T (p.Gly167Val)	not specified [RCV004460116]	uncertain significance	13	24223429	24223429	Human		name
405788786	CV3330090	single nucleotide variant	NM_001166271.3(SPATA13):c.610C>T (p.Arg204Cys)	not specified [RCV004460117]	uncertain significance	13	24223539	24223539	Human		name
405788790	CV3330091	single nucleotide variant	NM_001166271.3(SPATA13):c.611G>A (p.Arg204His)	not specified [RCV004460118]	uncertain significance	13	24223540	24223540	Human		name
405788794	CV3330092	single nucleotide variant	NM_001166271.3(SPATA13):c.707A>G (p.Glu236Gly)	not specified [RCV004460119]	uncertain significance	13	24223636	24223636	Human		name
405788797	CV3330093	single nucleotide variant	NM_001166271.3(SPATA13):c.829C>T (p.Leu277Phe)	not specified [RCV004460120]	uncertain significance	13	24223758	24223758	Human		name
407525477	CV3481426	single nucleotide variant	NM_001166271.3(SPATA13):c.398C>T (p.Ala133Val)	not specified [RCV004679276]	uncertain significance	13	24223327	24223327	Human		name
597742097	CV3600815	single nucleotide variant	NM_001166271.3(SPATA13):c.836C>T (p.Thr279Met)	not specified [RCV004865008]	uncertain significance	13	24223765	24223765	Human		name
597757425	CV3600818	single nucleotide variant	NM_001166271.3(SPATA13):c.566C>T (p.Thr189Met)	not specified [RCV004868625]	uncertain significance	13	24223495	24223495	Human		name
598238770	CV3922674	single nucleotide variant	NM_001166271.3(SPATA13):c.635T>G (p.Ile212Ser)	not specified [RCV005275891]	uncertain significance	13	24223564	24223564	Human		name
598248923	CV3922676	single nucleotide variant	NM_001166271.3(SPATA13):c.851G>A (p.Arg284Gln)	not specified [RCV005277513]	likely benign	13	24223780	24223780	Human		name
156366985	CV2203439	single nucleotide variant	NM_001166271.3(SPATA13):c.2603A>G (p.Asn868Ser)	not specified [RCV004072654]	uncertain significance	13	24286886	24286886	Human		name
156260229	CV2204799	single nucleotide variant	NM_001166271.3(SPATA13):c.1192T>C (p.Ser398Pro)	not specified [RCV004075054]	uncertain significance	13	24224121	24224121	Human		name
156326383	CV2205731	single nucleotide variant	NM_001166271.3(SPATA13):c.1787T>C (p.Leu596Pro)	not specified [RCV004075786]	uncertain significance	13	24249610	24249610	Human		name
156381042	CV2219105	single nucleotide variant	NM_001166271.3(SPATA13):c.1750C>T (p.Arg584Trp)	not specified [RCV004087264]	uncertain significance	13	24249573	24249573	Human		name
156328119	CV2220010	single nucleotide variant	NM_001166271.3(SPATA13):c.2129G>A (p.Arg710His)	not specified [RCV004095601]	uncertain significance	13	24251827	24251827	Human		name
155924599	CV2220349	single nucleotide variant	NM_001166271.3(SPATA13):c.2000T>C (p.Leu667Pro)	not specified [RCV004095765]	uncertain significance	13	24249823	24249823	Human		name
156064834	CV2287214	single nucleotide variant	NM_001166271.3(SPATA13):c.2399A>T (p.Gln800Leu)	not specified [RCV004146863]	uncertain significance	13	24286311	24286311	Human		name
156287626	CV2301259	single nucleotide variant	NM_001166271.3(SPATA13):c.1066C>T (p.Arg356Trp)	not specified [RCV004160440]	uncertain significance	13	24223995	24223995	Human		name
156294367	CV2306406	single nucleotide variant	NM_001166271.3(SPATA13):c.1172C>G (p.Pro391Arg)	not specified [RCV004156754]	uncertain significance	13	24224101	24224101	Human		name
156288256	CV2327395	single nucleotide variant	NM_001166271.3(SPATA13):c.1661C>G (p.Pro554Arg)	not specified [RCV004174820]	uncertain significance	13	24249484	24249484	Human		name
156044970	CV2340145	single nucleotide variant	NM_001166271.3(SPATA13):c.1871C>A (p.Ala624Glu)	not specified [RCV004192382]	uncertain significance	13	24249694	24249694	Human		name
155905314	CV2349734	single nucleotide variant	NM_001166271.3(SPATA13):c.1565T>C (p.Leu522Pro)	not specified [RCV004204148]	uncertain significance	13	24224494	24224494	Human		name
155997864	CV2373223	single nucleotide variant	NM_001166271.3(SPATA13):c.1657G>A (p.Val553Ile)	not specified [RCV004217895]	uncertain significance	13	24249480	24249480	Human		name
156347929	CV2383009	single nucleotide variant	NM_001166271.3(SPATA13):c.2138G>A (p.Arg713His)	not specified [RCV004217594]	uncertain significance	13	24251836	24251836	Human		name
156094105	CV2398793	single nucleotide variant	NM_001166271.3(SPATA13):c.2261G>A (p.Arg754Gln)	not specified [RCV004245119]	uncertain significance	13	24284231	24284231	Human		name
155933773	CV2399385	single nucleotide variant	NM_001166271.3(SPATA13):c.1633G>A (p.Glu545Lys)	not specified [RCV004242667]	uncertain significance	13	24224562	24224562	Human		name
329354057	CV2436875	single nucleotide variant	NM_001166271.3(SPATA13):c.2389G>T (p.Asp797Tyr)	not specified [RCV004260263]	uncertain significance	13	24286301	24286301	Human		name
329400826	CV2449733	single nucleotide variant	NM_001166271.3(SPATA13):c.1925A>G (p.Lys642Arg)	not specified [RCV004268630]	likely benign	13	24249748	24249748	Human		name
329373978	CV2452749	single nucleotide variant	NM_001166271.3(SPATA13):c.2143C>T (p.Arg715Trp)	not specified [RCV004275294]	uncertain significance	13	24251841	24251841	Human		name
329369698	CV2461188	single nucleotide variant	NM_001166271.3(SPATA13):c.1072C>T (p.His358Tyr)	not specified [RCV004267387]	uncertain significance	13	24224001	24224001	Human		name
329393123	CV2469338	single nucleotide variant	NM_001166271.3(SPATA13):c.2180G>T (p.Gly727Val)	not specified [RCV004280669]	uncertain significance	13	24284150	24284150	Human		name
401751923	CV2672622	single nucleotide variant	NM_001166271.3(SPATA13):c.1770C>A (p.Phe590Leu)	not specified [RCV004287648]	likely benign	13	24249593	24249593	Human		name
401741884	CV2677459	single nucleotide variant	NM_001166271.3(SPATA13):c.1124G>A (p.Arg375Gln)	not specified [RCV004289528]	uncertain significance	13	24224053	24224053	Human		name
401772076	CV2687406	single nucleotide variant	NM_001166271.3(SPATA13):c.2949T>A (p.Phe983Leu)	not specified [RCV004300655]	uncertain significance	13	24290753	24290753	Human		name
401761307	CV2706295	single nucleotide variant	NM_001166271.3(SPATA13):c.2234A>G (p.Tyr745Cys)	not specified [RCV004314956]	uncertain significance	13	24284204	24284204	Human		name
401752448	CV2723239	single nucleotide variant	NM_001166271.3(SPATA13):c.1670C>T (p.Pro557Leu)	not specified [RCV004329474]	uncertain significance	13	24249493	24249493	Human		name
401889771	CV2763382	single nucleotide variant	NM_001166271.3(SPATA13):c.2021C>T (p.Pro674Leu)	not specified [RCV004349272]	uncertain significance	13	24251719	24251719	Human		name
401860177	CV2765488	single nucleotide variant	NM_001166271.3(SPATA13):c.2141G>A (p.Arg714Gln)	not specified [RCV004341800]	uncertain significance	13	24251839	24251839	Human		name
401897095	CV2789815	single nucleotide variant	NM_001166271.3(SPATA13):c.1397C>T (p.Pro466Leu)	not specified [RCV004362209]	uncertain significance	13	24224326	24224326	Human		name
405788668	CV3330064	single nucleotide variant	NM_001166271.3(SPATA13):c.1013G>A (p.Arg338Lys)	not specified [RCV004460091]	likely benign	13	24223942	24223942	Human		name
405788673	CV3330065	single nucleotide variant	NM_001166271.3(SPATA13):c.1081T>C (p.Tyr361His)	not specified [RCV004460092]	uncertain significance	13	24224010	24224010	Human		name
405788677	CV3330066	single nucleotide variant	NM_001166271.3(SPATA13):c.1165G>A (p.Val389Met)	not specified [RCV004460093]	uncertain significance	13	24224094	24224094	Human		name
405788681	CV3330067	single nucleotide variant	NM_001166271.3(SPATA13):c.1367A>G (p.Asp456Gly)	not specified [RCV004460094]	uncertain significance	13	24224296	24224296	Human		name
405788685	CV3330068	single nucleotide variant	NM_001166271.3(SPATA13):c.1441G>A (p.Gly481Arg)	not specified [RCV004460095]	uncertain significance	13	24224370	24224370	Human		name
405788689	CV3330069	single nucleotide variant	NM_001166271.3(SPATA13):c.1778A>G (p.Tyr593Cys)	not specified [RCV004460096]	uncertain significance	13	24249601	24249601	Human		name
405788695	CV3330070	single nucleotide variant	NM_001166271.3(SPATA13):c.1849C>T (p.Arg617Cys)	not specified [RCV004460097]	uncertain significance	13	24249672	24249672	Human		name
405788700	CV3330071	single nucleotide variant	NM_001166271.3(SPATA13):c.1931C>A (p.Ala644Asp)	not specified [RCV004460098]	uncertain significance	13	24249754	24249754	Human		name
405788705	CV3330072	single nucleotide variant	NM_001166271.3(SPATA13):c.1942C>T (p.Arg648Cys)	not specified [RCV004460099]	uncertain significance	13	24249765	24249765	Human		name
405788710	CV3330073	single nucleotide variant	NM_001166271.3(SPATA13):c.2137C>T (p.Arg713Cys)	not specified [RCV004460100]	uncertain significance	13	24251835	24251835	Human		name
405788714	CV3330074	single nucleotide variant	NM_001166271.3(SPATA13):c.2315G>T (p.Gly772Val)	not specified [RCV004460101]	uncertain significance	13	24286227	24286227	Human		name
405788719	CV3330075	single nucleotide variant	NM_001166271.3(SPATA13):c.2593A>T (p.Met865Leu)	not specified [RCV004460102]	uncertain significance	13	24286876	24286876	Human		name
405788724	CV3330076	single nucleotide variant	NM_001166271.3(SPATA13):c.2714C>T (p.Ala905Val)	not specified [RCV004460103]	uncertain significance	13	24289045	24289045	Human		name
405788727	CV3330077	single nucleotide variant	NM_001166271.3(SPATA13):c.2896G>A (p.Ala966Thr)	not specified [RCV004460104]	uncertain significance	13	24290700	24290700	Human		name
407510579	CV3481423	single nucleotide variant	NM_001166271.3(SPATA13):c.1301C>T (p.Pro434Leu)	not specified [RCV004672783]	uncertain significance	13	24224230	24224230	Human		name
407510582	CV3481424	single nucleotide variant	NM_001166271.3(SPATA13):c.2452G>A (p.Glu818Lys)	not specified [RCV004672784]	uncertain significance	13	24286364	24286364	Human		name
407525474	CV3481425	single nucleotide variant	NM_001166271.3(SPATA13):c.1243A>G (p.Lys415Glu)	not specified [RCV004679275]	uncertain significance	13	24224172	24224172	Human		name
407510587	CV3481428	single nucleotide variant	NM_001166271.3(SPATA13):c.1009C>T (p.Pro337Ser)	not specified [RCV004672786]	uncertain significance	13	24223938	24223938	Human		name
407510590	CV3481429	single nucleotide variant	NM_001166271.3(SPATA13):c.2545G>A (p.Glu849Lys)	not specified [RCV004672787]	uncertain significance	13	24286828	24286828	Human		name
407510593	CV3481430	single nucleotide variant	NM_001166271.3(SPATA13):c.2728A>G (p.Ile910Val)	not specified [RCV004672788]	uncertain significance	13	24289059	24289059	Human		name
407510596	CV3481431	single nucleotide variant	NM_001166271.3(SPATA13):c.1627G>A (p.Gly543Ser)	not specified [RCV004672789]	likely benign	13	24224556	24224556	Human		name
407525479	CV3481433	single nucleotide variant	NM_001166271.3(SPATA13):c.1303A>C (p.Ile435Leu)	not specified [RCV004679277]	uncertain significance	13	24224232	24224232	Human		name
597742079	CV3600806	single nucleotide variant	NM_001166271.3(SPATA13):c.1558G>T (p.Asp520Tyr)	not specified [RCV004865004]	uncertain significance	13	24224487	24224487	Human		name
597757396	CV3600808	single nucleotide variant	NM_001166271.3(SPATA13):c.2456C>G (p.Ala819Gly)	not specified [RCV004868619]	uncertain significance	13	24286368	24286368	Human		name
597742083	CV3600809	single nucleotide variant	NM_001166271.3(SPATA13):c.2476G>A (p.Val826Ile)	not specified [RCV004865005]	uncertain significance	13	24286388	24286388	Human		name
597757402	CV3600810	single nucleotide variant	NM_001166271.3(SPATA13):c.2438G>A (p.Arg813His)	not specified [RCV004868620]	uncertain significance	13	24286350	24286350	Human		name
597757407	CV3600813	single nucleotide variant	NM_001166271.3(SPATA13):c.1403C>T (p.Thr468Ile)	not specified [RCV004868621]	uncertain significance	13	24224332	24224332	Human		name
597757411	CV3600814	single nucleotide variant	NM_001166271.3(SPATA13):c.2564G>A (p.Arg855His)	not specified [RCV004868622]	uncertain significance	13	24286847	24286847	Human		name
597757417	CV3600816	single nucleotide variant	NM_001166271.3(SPATA13):c.1345G>A (p.Ala449Thr)	not specified [RCV004868623]	uncertain significance	13	24224274	24224274	Human		name
597757700	CV3600817	single nucleotide variant	NM_001166271.3(SPATA13):c.2320G>A (p.Val774Met)	not specified [RCV004868624]	uncertain significance	13	24286232	24286232	Human		name
597757433	CV3600820	single nucleotide variant	NM_001166271.3(SPATA13):c.2710G>T (p.Val904Phe)	not specified [RCV004868627]	uncertain significance	13	24289041	24289041	Human		name
597757438	CV3600821	single nucleotide variant	NM_001166271.3(SPATA13):c.1530G>C (p.Gln510His)	not specified [RCV004868628]	uncertain significance	13	24224459	24224459	Human		name
597757443	CV3600822	single nucleotide variant	NM_001166271.3(SPATA13):c.2174A>G (p.Asp725Gly)	not specified [RCV004868629]	uncertain significance	13	24284144	24284144	Human		name
597757451	CV3600824	single nucleotide variant	NM_001166271.3(SPATA13):c.2116A>G (p.Ile706Val)	not specified [RCV004868631]	uncertain significance	13	24251814	24251814	Human		name
597742101	CV3600825	single nucleotide variant	NM_001166271.3(SPATA13):c.2804A>G (p.Glu935Gly)	not specified [RCV004865009]	uncertain significance	13	24289135	24289135	Human		name
597757456	CV3600826	single nucleotide variant	NM_001166271.3(SPATA13):c.2096C>T (p.Thr699Ile)	not specified [RCV004868632]	uncertain significance	13	24251794	24251794	Human		name
597757460	CV3600827	single nucleotide variant	NM_001166271.3(SPATA13):c.2620A>C (p.Met874Leu)	not specified [RCV004868633]	uncertain significance	13	24286903	24286903	Human		name
597757465	CV3600828	single nucleotide variant	NM_001166271.3(SPATA13):c.1225G>A (p.Val409Ile)	not specified [RCV004868634]	uncertain significance	13	24224154	24224154	Human		name
597757470	CV3600830	single nucleotide variant	NM_001166271.3(SPATA13):c.2165T>C (p.Val722Ala)	not specified [RCV004868635]	uncertain significance	13	24284135	24284135	Human		name
598248808	CV3922659	single nucleotide variant	NM_001166271.3(SPATA13):c.2563C>T (p.Arg855Cys)	not specified [RCV005277497]	uncertain significance	13	24286846	24286846	Human		name
598248814	CV3922660	single nucleotide variant	NM_001166271.3(SPATA13):c.1976A>G (p.Tyr659Cys)	not specified [RCV005277498]	uncertain significance	13	24249799	24249799	Human		name
598248821	CV3922661	single nucleotide variant	NM_001166271.3(SPATA13):c.1902G>C (p.Gln634His)	not specified [RCV005277499]	uncertain significance	13	24249725	24249725	Human		name
598248843	CV3922664	single nucleotide variant	NM_001166271.3(SPATA13):c.1679G>A (p.Arg560Gln)	not specified [RCV005277502]	uncertain significance	13	24249502	24249502	Human		name
598248857	CV3922666	single nucleotide variant	NM_001166271.3(SPATA13):c.1934G>A (p.Arg645Gln)	not specified [RCV005277504]	uncertain significance	13	24249757	24249757	Human		name
598248871	CV3922668	single nucleotide variant	NM_001166271.3(SPATA13):c.1614T>G (p.Ile538Met)	not specified [RCV005277506]	uncertain significance	13	24224543	24224543	Human		name
598248886	CV3922670	single nucleotide variant	NM_001166271.3(SPATA13):c.2608A>C (p.Ile870Leu)	not specified [RCV005277508]	uncertain significance	13	24286891	24286891	Human		name
598248894	CV3922671	single nucleotide variant	NM_001166271.3(SPATA13):c.2419A>G (p.Lys807Glu)	not specified [RCV005277509]	uncertain significance	13	24286331	24286331	Human		name
598248907	CV3922673	single nucleotide variant	NM_001166271.3(SPATA13):c.2532T>A (p.Ser844Arg)	not specified [RCV005277511]	uncertain significance	13	24286815	24286815	Human		name
8635000	CV90222	single nucleotide variant	NM_001166271.2(SPATA13):c.2432G>A (p.Trp811Ter)	Malignant melanoma [RCV000070320]	not provided	13	24286344	24286344	Human		name
156332720	CV2220729	single nucleotide variant	NM_001166271.3(SPATA13):c.3358A>G (p.Met1120Val)	not specified [RCV004097897]	likely benign	13	24297510	24297510	Human		name
156076391	CV2281583	single nucleotide variant	NM_001166271.3(SPATA13):c.3173A>G (p.Lys1058Arg)	not specified [RCV004153881]	uncertain significance	13	24294831	24294831	Human		name
156046076	CV2308130	single nucleotide variant	NM_001166271.3(SPATA13):c.3215T>C (p.Leu1072Pro)	not specified [RCV004170541]	uncertain significance	13	24297367	24297367	Human		name
401875747	CV2789152	single nucleotide variant	NM_001166271.3(SPATA13):c.3821C>T (p.Pro1274Leu)	not specified [RCV004365202]	uncertain significance	13	24302760	24302760	Human		name
405788732	CV3330078	single nucleotide variant	NM_001166271.3(SPATA13):c.3111G>T (p.Glu1037Asp)	not specified [RCV004460105]	uncertain significance	13	24294769	24294769	Human		name
405788736	CV3330079	single nucleotide variant	NM_001166271.3(SPATA13):c.3182G>T (p.Arg1061Leu)	not specified [RCV004460106]	uncertain significance	13	24294840	24294840	Human		name
405788742	CV3330080	single nucleotide variant	NM_001166271.3(SPATA13):c.3291G>T (p.Gln1097His)	not specified [RCV004460107]	uncertain significance	13	24297443	24297443	Human		name
405788746	CV3330081	single nucleotide variant	NM_001166271.3(SPATA13):c.3295C>T (p.Arg1099Trp)	not specified [RCV004460108]	uncertain significance	13	24297447	24297447	Human		name
405788751	CV3330082	single nucleotide variant	NM_001166271.3(SPATA13):c.3316C>T (p.His1106Tyr)	not specified [RCV004460109]	uncertain significance	13	24297468	24297468	Human		name
405788756	CV3330083	single nucleotide variant	NM_001166271.3(SPATA13):c.3350G>A (p.Arg1117His)	not specified [RCV004460110]	uncertain significance	13	24297502	24297502	Human		name
405788761	CV3330084	single nucleotide variant	NM_001166271.3(SPATA13):c.3401T>C (p.Leu1134Pro)	not specified [RCV004460111]	uncertain significance	13	24297553	24297553	Human		name
405788765	CV3330085	single nucleotide variant	NM_001166271.3(SPATA13):c.3445G>A (p.Val1149Met)	not specified [RCV004460112]	uncertain significance	13	24297597	24297597	Human		name
405788770	CV3330086	single nucleotide variant	NM_001166271.3(SPATA13):c.3716G>A (p.Arg1239His)	not specified [RCV004460113]	uncertain significance	13	24302655	24302655	Human		name
405788775	CV3330087	single nucleotide variant	NM_001166271.3(SPATA13):c.3739G>A (p.Val1247Ile)	not specified [RCV004460114]	likely benign	13	24302678	24302678	Human		name
407510584	CV3481427	single nucleotide variant	NM_001166271.3(SPATA13):c.3202G>T (p.Gly1068Cys)	not specified [RCV004672785]	uncertain significance	13	24294860	24294860	Human		name
407510599	CV3481432	single nucleotide variant	NM_001166271.3(SPATA13):c.3319C>G (p.Gln1107Glu)	not specified [RCV004672790]	uncertain significance	13	24297471	24297471	Human		name
597757387	CV3600805	single nucleotide variant	NM_001166271.3(SPATA13):c.3575A>G (p.Lys1192Arg)	not specified [RCV004868617]	likely benign	13	24297727	24297727	Human		name
597757392	CV3600807	single nucleotide variant	NM_001166271.3(SPATA13):c.3079G>A (p.Gly1027Ser)	not specified [RCV004868618]	likely benign	13	24290883	24290883	Human		name
597742092	CV3600812	single nucleotide variant	NM_001166271.3(SPATA13):c.3199G>A (p.Val1067Met)	not specified [RCV004865007]	uncertain significance	13	24294857	24294857	Human		name
597757447	CV3600823	single nucleotide variant	NM_001166271.3(SPATA13):c.3035C>T (p.Pro1012Leu)	not specified [RCV004868630]	uncertain significance	13	24290839	24290839	Human		name
597742106	CV3600829	single nucleotide variant	NM_001166271.3(SPATA13):c.3049G>A (p.Glu1017Lys)	not specified [RCV004865010]	uncertain significance	13	24290853	24290853	Human		name
598248799	CV3922658	single nucleotide variant	NM_001166271.3(SPATA13):c.3827G>A (p.Arg1276Gln)	not specified [RCV005277496]	uncertain significance	13	24302766	24302766	Human		name
598248828	CV3922662	single nucleotide variant	NM_001166271.3(SPATA13):c.3466G>A (p.Val1156Ile)	not specified [RCV005277500]	uncertain significance	13	24297618	24297618	Human		name
598248835	CV3922663	single nucleotide variant	NM_001166271.3(SPATA13):c.3329C>G (p.Ser1110Cys)	not specified [RCV005277501]	uncertain significance	13	24297481	24297481	Human		name
598248863	CV3922667	single nucleotide variant	NM_001166271.3(SPATA13):c.3169G>A (p.Asp1057Asn)	not specified [RCV005277505]	uncertain significance	13	24294827	24294827	Human		name
598248879	CV3922669	single nucleotide variant	NM_001166271.3(SPATA13):c.3403G>A (p.Val1135Met)	not specified [RCV005277507]	uncertain significance	13	24297555	24297555	Human		name
598248900	CV3922672	single nucleotide variant	NM_001166271.3(SPATA13):c.3190G>A (p.Val1064Met)	not specified [RCV005277510]	uncertain significance	13	24294848	24294848	Human		name

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