Sptbn5 Variant Search Result - Rat Genome Database

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673 records found for search term Sptbn5

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405261355	CV3209643	single nucleotide variant	NM_016642.4(SPTBN5):c.-3C>T	SPTBN5-related disorder [RCV003944456]	likely benign	15	41893500	41893500	Human		name , trait , alternate_id
401906163	CV2802374	single nucleotide variant	NM_016642.4(SPTBN5):c.659+1G>A	SPTBN5-related disorder [RCV003421037]	uncertain significance	15	41887927	41887927	Human		name , trait , alternate_id
401932786	CV2804371	single nucleotide variant	NM_016642.4(SPTBN5):c.9424-1G>C	SPTBN5-related disorder [RCV003408770]	uncertain significance	15	41854977	41854977	Human		name , trait , alternate_id
401934308	CV2817457	single nucleotide variant	NM_016642.4(SPTBN5):c.7263+5G>A	not provided [RCV003411171]	benign	15	41862785	41862785	Human		name
401916311	CV2817465	single nucleotide variant	NM_016642.4(SPTBN5):c.4891-2A>G	not provided [RCV003400891]	benign	15	41873610	41873610	Human		name
405260156	CV3190196	single nucleotide variant	NM_016642.4(SPTBN5):c.6312+6G>A	SPTBN5-related disorder [RCV003894598]	likely benign	15	41867532	41867532	Human		name , trait , alternate_id
405276789	CV3206804	single nucleotide variant	NM_016642.4(SPTBN5):c.1659+9T>G	SPTBN5-related disorder [RCV003917233]	likely benign	15	41883339	41883339	Human		name , trait , alternate_id
150331363	CV1172703	single nucleotide variant	NM_016642.4(SPTBN5):c.4288-14T>C	not provided [RCV001538599]	benign	15	41875070	41875070	Human		name
150498523	CV1270667	single nucleotide variant	NM_016642.4(SPTBN5):c.9219-13T>G	not provided [RCV001689215]	benign	15	41855441	41855441	Human		name
150498954	CV1270739	single nucleotide variant	NM_016642.4(SPTBN5):c.3183-14A>G	not provided [RCV001689288]	benign	15	41878643	41878643	Human		name
150491748	CV1280590	single nucleotide variant	NM_016642.4(SPTBN5):c.4689+15C>T	not provided [RCV001716692]	benign	15	41874277	41874277	Human		name
405280246	CV3200329	single nucleotide variant	NM_016642.4(SPTBN5):c.2457+10G>C	SPTBN5-related disorder [RCV003977225]	likely benign	15	41881926	41881926	Human		name , trait , alternate_id
405285368	CV3212364	single nucleotide variant	NM_016642.4(SPTBN5):c.2659-10C>T	SPTBN5-related disorder [RCV003958975]	likely benign	15	41880322	41880322	Human		name , trait , alternate_id
405285481	CV3212505	single nucleotide variant	NM_016642.4(SPTBN5):c.10347+10G>T	SPTBN5-related disorder [RCV003959089]	likely benign	15	41852814	41852814	Human		name , trait , alternate_id
15161148	CV703182	single nucleotide variant	NM_016642.4(SPTBN5):c.8G>A (p.Gly3Asp)	not provided [RCV000947619]	benign	15	41893490	41893490	Human		name
405284998	CV3202302	single nucleotide variant	NM_016642.4(SPTBN5):c.129C>A (p.Gly43=)	SPTBN5-related disorder [RCV003909575]	likely benign	15	41893369	41893369	Human		name , trait , alternate_id
405271472	CV3209402	single nucleotide variant	NM_016642.4(SPTBN5):c.120C>T (p.Tyr40=)	SPTBN5-related disorder [RCV003949730]	likely benign	15	41893378	41893378	Human		name , trait , alternate_id
405272314	CV3199278	duplication	NM_016642.4(SPTBN5):c.3852-12_3852-10dup	SPTBN5-related disorder [RCV003914229]	benign	15	41876656	41876657	Human		name , trait , alternate_id
405267292	CV3205523	single nucleotide variant	NM_016642.4(SPTBN5):c.315G>A (p.Pro105=)	SPTBN5-related disorder [RCV003947373]	likely benign	15	41892963	41892963	Human		name , trait , alternate_id
150473470	CV1262908	single nucleotide variant	NM_016642.4(SPTBN5):c.2986C>T (p.Leu996=)	not provided [RCV001684724]	benign	15	41879456	41879456	Human		name
156275521	CV2290645	single nucleotide variant	NM_016642.4(SPTBN5):c.156C>G (p.His52Gln)	not specified [RCV004149178]	uncertain significance	15	41893342	41893342	Human		name
155912934	CV2305190	single nucleotide variant	NM_016642.4(SPTBN5):c.295G>A (p.Gly99Arg)	not specified [RCV004171127]	uncertain significance	15	41892983	41892983	Human		name
156087462	CV2366398	single nucleotide variant	NM_016642.4(SPTBN5):c.199G>A (p.Val67Ile)	not specified [RCV004212445]	likely benign	15	41893299	41893299	Human		name
156146706	CV2397439	single nucleotide variant	NM_016642.4(SPTBN5):c.233G>A (p.Arg78Gln)	not specified [RCV004238953]	likely benign	15	41893045	41893045	Human		name
401761730	CV2713866	single nucleotide variant	NM_016642.4(SPTBN5):c.136C>T (p.Arg46Cys)	not specified [RCV004315306]	uncertain significance	15	41893362	41893362	Human		name
401778321	CV2714649	single nucleotide variant	NM_016642.4(SPTBN5):c.157A>G (p.Met53Val)	not specified [RCV004320234]	uncertain significance	15	41893341	41893341	Human		name
401916134	CV2817473	single nucleotide variant	NM_016642.4(SPTBN5):c.1665G>A (p.Pro555=)	not provided [RCV003400898]	benign	15	41883223	41883223	Human		name
405777077	CV3334120	single nucleotide variant	NM_016642.4(SPTBN5):c.218C>T (p.Ala73Val)	not specified [RCV004458000]	likely benign	15	41893060	41893060	Human		name
405777557	CV3334202	single nucleotide variant	NM_016642.4(SPTBN5):c.193A>G (p.Asn65Asp)	not specified [RCV004458082]	uncertain significance	15	41893305	41893305	Human		name
407525818	CV3478149	single nucleotide variant	NM_016642.4(SPTBN5):c.151C>G (p.Arg51Gly)	not specified [RCV004679438]	uncertain significance	15	41893347	41893347	Human		name
597778297	CV3604188	single nucleotide variant	NM_016642.4(SPTBN5):c.275G>A (p.Arg92Gln)	not specified [RCV004873249]	uncertain significance	15	41893003	41893003	Human		name
597680039	CV3604222	single nucleotide variant	NM_016642.4(SPTBN5):c.121G>A (p.Glu41Lys)	not specified [RCV004857352]	uncertain significance	15	41893377	41893377	Human		name
597778485	CV3604262	single nucleotide variant	NM_016642.4(SPTBN5):c.137G>A (p.Arg46His)	not specified [RCV004873297]	uncertain significance	15	41893361	41893361	Human		name
598273071	CV3915802	single nucleotide variant	NM_016642.4(SPTBN5):c.249G>C (p.Glu83Asp)	not specified [RCV005282811]	uncertain significance	15	41893029	41893029	Human		name
15147679	CV754427	single nucleotide variant	NM_016642.4(SPTBN5):c.1405C>T (p.Leu469=)	not provided [RCV000922954]	benign	15	41885850	41885850	Human		name
150476103	CV1239832	single nucleotide variant	NM_016642.4(SPTBN5):c.3432C>T (p.His1144=)	SPTBN5-related disorder [RCV003975792]\|not provided [RCV001652009]	benign	15	41878380	41878380	Human		name , trait , alternate_id
156031743	CV2202785	single nucleotide variant	NM_016642.4(SPTBN5):c.403G>A (p.Gly135Arg)	not specified [RCV004083023]	uncertain significance	15	41890187	41890187	Human		name
155980626	CV2223050	single nucleotide variant	NM_016642.4(SPTBN5):c.790C>G (p.Gln264Glu)	not specified [RCV004103629]	uncertain significance	15	41887311	41887311	Human		name
156021677	CV2226825	single nucleotide variant	NM_016642.4(SPTBN5):c.445G>C (p.Gly149Arg)	not specified [RCV004103814]	uncertain significance	15	41890145	41890145	Human		name
156233284	CV2227750	single nucleotide variant	NM_016642.4(SPTBN5):c.332G>A (p.Arg111His)	not specified [RCV004094136]	uncertain significance	15	41892946	41892946	Human		name
156000790	CV2257786	single nucleotide variant	NM_016642.4(SPTBN5):c.689G>A (p.Arg230His)	SPTBN5-related disorder [RCV003963742]\|not provided [RCV003404163]\|not specified [RCV004127850]	benign\|likely benign\|uncertain significance	15	41887412	41887412	Human		name , trait , alternate_id
156179950	CV2324338	single nucleotide variant	NM_016642.4(SPTBN5):c.512G>A (p.Gly171Glu)	not specified [RCV004178844]	uncertain significance	15	41888075	41888075	Human		name
156274025	CV2334075	single nucleotide variant	NM_016642.4(SPTBN5):c.418G>A (p.Val140Met)	SPTBN5-related disorder [RCV003973742]\|not specified [RCV004183591]	likely benign\|uncertain significance	15	41890172	41890172	Human		name , trait , alternate_id
155987441	CV2363833	single nucleotide variant	NM_016642.4(SPTBN5):c.772G>A (p.Glu258Lys)	not specified [RCV004218813]	uncertain significance	15	41887329	41887329	Human		name
155992722	CV2379341	single nucleotide variant	NM_016642.4(SPTBN5):c.436C>G (p.Leu146Val)	not specified [RCV004223802]	uncertain significance	15	41890154	41890154	Human		name
329395621	CV2454404	single nucleotide variant	NM_016642.4(SPTBN5):c.679G>T (p.Gly227Cys)	not specified [RCV004267915]	uncertain significance	15	41887422	41887422	Human		name
329382322	CV2465174	single nucleotide variant	NM_016642.4(SPTBN5):c.748G>C (p.Gly250Arg)	not specified [RCV004287218]	uncertain significance	15	41887353	41887353	Human		name
401780345	CV2673982	single nucleotide variant	NM_016642.4(SPTBN5):c.326G>A (p.Arg109His)	not provided [RCV005425122]\|not specified [RCV004293351]	uncertain significance	15	41892952	41892952	Human		name
401748115	CV2700006	single nucleotide variant	NM_016642.4(SPTBN5):c.808A>G (p.Ile270Val)	not specified [RCV004310435]	uncertain significance	15	41887293	41887293	Human		name
401731307	CV2701303	single nucleotide variant	NM_016642.4(SPTBN5):c.565C>T (p.Arg189Trp)	not specified [RCV004311682]	uncertain significance	15	41888022	41888022	Human		name
401770792	CV2707416	single nucleotide variant	NM_016642.4(SPTBN5):c.520G>A (p.Ala174Thr)	not specified [RCV004312803]	uncertain significance	15	41888067	41888067	Human		name
401721967	CV2710258	single nucleotide variant	NM_016642.4(SPTBN5):c.662C>T (p.Pro221Leu)	not specified [RCV004317153]	uncertain significance	15	41887439	41887439	Human		name
401858184	CV2766406	single nucleotide variant	NM_016642.4(SPTBN5):c.860G>A (p.Gly287Glu)	not specified [RCV004345251]	uncertain significance	15	41887241	41887241	Human		name
401916078	CV2817450	single nucleotide variant	NM_016642.4(SPTBN5):c.9564C>T (p.Ser3188=)	not provided [RCV003400879]	likely benign	15	41854836	41854836	Human		name
401916085	CV2817452	single nucleotide variant	NM_016642.4(SPTBN5):c.9165C>T (p.Ile3055=)	not provided [RCV003400881]	benign	15	41855602	41855602	Human		name
401934307	CV2817454	single nucleotide variant	NM_016642.4(SPTBN5):c.8898C>T (p.Ala2966=)	SPTBN5-related disorder [RCV003980891]\|not provided [RCV003411170]	likely benign	15	41856509	41856509	Human		name , trait , alternate_id
401916095	CV2817456	single nucleotide variant	NM_016642.4(SPTBN5):c.7839C>T (p.Pro2613=)	not provided [RCV003400884]	likely benign	15	41860735	41860735	Human		name
401916098	CV2817458	single nucleotide variant	NM_016642.4(SPTBN5):c.7026C>T (p.Leu2342=)	not provided [RCV003400885]	benign	15	41863917	41863917	Human		name
401916101	CV2817459	single nucleotide variant	NM_016642.4(SPTBN5):c.6837T>C (p.Asn2279=)	not provided [RCV003400886]	benign	15	41865889	41865889	Human		name
401916103	CV2817460	single nucleotide variant	NM_016642.4(SPTBN5):c.6690G>A (p.Leu2230=)	not provided [RCV003400887]	likely benign	15	41866170	41866170	Human		name
401916106	CV2817461	single nucleotide variant	NM_016642.4(SPTBN5):c.6372T>G (p.Leu2124=)	SPTBN5-related disorder [RCV003906755]\|not provided [RCV003400888]	likely benign	15	41867067	41867067	Human		name , trait , alternate_id
401934309	CV2817462	single nucleotide variant	NM_016642.4(SPTBN5):c.5970G>A (p.Ala1990=)	not provided [RCV003411172]	likely benign	15	41868485	41868485	Human		name
401916111	CV2817464	single nucleotide variant	NM_016642.4(SPTBN5):c.5358G>A (p.Arg1786=)	not provided [RCV003400890]	benign	15	41871464	41871464	Human		name
401916314	CV2817466	single nucleotide variant	NM_016642.4(SPTBN5):c.4377A>G (p.Lys1459=)	not provided [RCV003400892]	likely benign	15	41874967	41874967	Human		name
401916120	CV2817467	single nucleotide variant	NM_016642.4(SPTBN5):c.4260G>A (p.Gln1420=)	not provided [RCV003400893]	likely benign	15	41875485	41875485	Human		name
401916123	CV2817468	single nucleotide variant	NM_016642.4(SPTBN5):c.4239C>T (p.Asp1413=)	not provided [RCV003400894]	likely benign	15	41875506	41875506	Human		name
401916129	CV2817470	single nucleotide variant	NM_016642.4(SPTBN5):c.3136C>T (p.Leu1046=)	not provided [RCV003400896]	benign	15	41879306	41879306	Human		name
401934438	CV2817471	single nucleotide variant	NM_016642.4(SPTBN5):c.3129G>A (p.Lys1043=)	not provided [RCV003411173]	likely benign	15	41879313	41879313	Human		name
401934437	CV2817474	single nucleotide variant	NM_016642.4(SPTBN5):c.820G>A (p.Val274Ile)	not provided [RCV003411174]	likely benign	15	41887281	41887281	Human		name
404994586	CV2851189	single nucleotide variant	NM_016642.4(SPTBN5):c.8268G>A (p.Glu2756=)	not provided [RCV003491613]	uncertain significance	15	41857669	41857669	Human		name
405259696	CV3186382	single nucleotide variant	NM_016642.4(SPTBN5):c.3486C>T (p.Asp1162=)	not provided [RCV003884141]	likely benign	15	41877341	41877341	Human		name
405286291	CV3192076	single nucleotide variant	NM_016642.4(SPTBN5):c.7323C>A (p.Leu2441=)	SPTBN5-related disorder [RCV003923998]	likely benign	15	41862601	41862601	Human		name , trait , alternate_id
405286524	CV3192168	single nucleotide variant	NM_016642.4(SPTBN5):c.8592G>A (p.Val2864=)	SPTBN5-related disorder [RCV003924079]	likely benign	15	41857267	41857267	Human		name , trait , alternate_id
405286763	CV3192949	single nucleotide variant	NM_016642.4(SPTBN5):c.5889C>G (p.Arg1963=)	SPTBN5-related disorder [RCV003981641]	likely benign	15	41868566	41868566	Human		name , trait , alternate_id
405275505	CV3196311	single nucleotide variant	NM_016642.4(SPTBN5):c.9384C>T (p.Ala3128=)	SPTBN5-related disorder [RCV003974167]	likely benign	15	41855263	41855263	Human		name , trait , alternate_id
405280254	CV3200342	single nucleotide variant	NM_016642.4(SPTBN5):c.8082G>C (p.Val2694=)	SPTBN5-related disorder [RCV003977238]	likely benign	15	41858746	41858746	Human		name , trait , alternate_id
405267147	CV3202138	single nucleotide variant	NM_016642.4(SPTBN5):c.9258C>T (p.Ala3086=)	SPTBN5-related disorder [RCV003911611]	likely benign	15	41855389	41855389	Human		name , trait , alternate_id
405275428	CV3204774	single nucleotide variant	NM_016642.4(SPTBN5):c.589G>A (p.Val197Met)	SPTBN5-related disorder [RCV003952154]	likely benign	15	41887998	41887998	Human		name , trait , alternate_id
405272181	CV3206416	single nucleotide variant	NM_016642.4(SPTBN5):c.4278G>A (p.Arg1426=)	SPTBN5-related disorder [RCV003972025]	likely benign	15	41875467	41875467	Human		name , trait , alternate_id
405293603	CV3214346	single nucleotide variant	NM_016642.4(SPTBN5):c.7617G>A (p.Ala2539=)	SPTBN5-related disorder [RCV003932037]	likely benign	15	41861855	41861855	Human		name , trait , alternate_id
405294947	CV3214990	single nucleotide variant	NM_016642.4(SPTBN5):c.6387G>A (p.Gln2129=)	SPTBN5-related disorder [RCV003936843]	likely benign	15	41867052	41867052	Human		name , trait , alternate_id
405278675	CV3216730	single nucleotide variant	NM_016642.4(SPTBN5):c.5664C>T (p.Thr1888=)	SPTBN5-related disorder [RCV003954613]	likely benign	15	41870252	41870252	Human		name , trait , alternate_id
405283508	CV3217110	single nucleotide variant	NM_016642.4(SPTBN5):c.9072C>T (p.Ser3024=)	SPTBN5-related disorder [RCV003979228]	benign	15	41855695	41855695	Human		name , trait , alternate_id
405777102	CV3334125	single nucleotide variant	NM_016642.4(SPTBN5):c.298G>A (p.Glu100Lys)	not specified [RCV004458005]	uncertain significance	15	41892980	41892980	Human		name
405777160	CV3334135	single nucleotide variant	NM_016642.4(SPTBN5):c.397C>T (p.Leu133Phe)	not specified [RCV004458015]	uncertain significance	15	41890193	41890193	Human		name
405777189	CV3334140	single nucleotide variant	NM_016642.4(SPTBN5):c.487A>G (p.Ile163Val)	not specified [RCV004458020]	uncertain significance	15	41890103	41890103	Human		name
405777247	CV3334150	single nucleotide variant	NM_016642.4(SPTBN5):c.611G>A (p.Arg204Gln)	not specified [RCV004458030]	uncertain significance	15	41887976	41887976	Human		name
405777288	CV3334157	single nucleotide variant	NM_016642.4(SPTBN5):c.650A>G (p.His217Arg)	not specified [RCV004458037]	uncertain significance	15	41887937	41887937	Human		name
405777337	CV3334166	single nucleotide variant	NM_016642.4(SPTBN5):c.695A>G (p.Asp232Gly)	not specified [RCV004458046]	uncertain significance	15	41887406	41887406	Human		name
405777452	CV3334184	single nucleotide variant	NM_016642.4(SPTBN5):c.873G>C (p.Gln291His)	not specified [RCV004458064]	uncertain significance	15	41887228	41887228	Human		name
405777482	CV3334189	single nucleotide variant	NM_016642.4(SPTBN5):c.929A>C (p.Gln310Pro)	not specified [RCV004458069]	uncertain significance	15	41886326	41886326	Human		name
407516255	CV3478138	single nucleotide variant	NM_016642.4(SPTBN5):c.811A>G (p.Met271Val)	not specified [RCV004675254]	uncertain significance	15	41887290	41887290	Human		name
407516297	CV3478164	single nucleotide variant	NM_016642.4(SPTBN5):c.752T>G (p.Ile251Ser)	not specified [RCV004675269]	uncertain significance	15	41887349	41887349	Human		name
408377707	CV3500812	single nucleotide variant	NM_016642.4(SPTBN5):c.6781C>T (p.Leu2261=)	not provided [RCV004722462]	benign	15	41866079	41866079	Human		name
408380345	CV3514215	single nucleotide variant	NM_016642.4(SPTBN5):c.550C>A (p.Leu184Met)	SPTBN5-related disorder [RCV004754107]	uncertain significance	15	41888037	41888037	Human		name , trait , alternate_id
597679948	CV3604190	single nucleotide variant	NM_016642.4(SPTBN5):c.994C>T (p.Arg332Trp)	not specified [RCV004857340]	uncertain significance	15	41886261	41886261	Human		name
597679956	CV3604192	single nucleotide variant	NM_016642.4(SPTBN5):c.913G>A (p.Glu305Lys)	not specified [RCV004857341]	uncertain significance	15	41886342	41886342	Human		name
597778305	CV3604193	single nucleotide variant	NM_016642.4(SPTBN5):c.925A>C (p.Thr309Pro)	not specified [RCV004873251]	uncertain significance	15	41886330	41886330	Human		name
597679978	CV3604200	single nucleotide variant	NM_016642.4(SPTBN5):c.848G>A (p.Arg283His)	not specified [RCV004857344]	uncertain significance	15	41887253	41887253	Human		name
597778357	CV3604210	single nucleotide variant	NM_016642.4(SPTBN5):c.329T>G (p.Leu110Arg)	not specified [RCV004873264]	uncertain significance	15	41892949	41892949	Human		name
597680003	CV3604213	single nucleotide variant	NM_016642.4(SPTBN5):c.697C>T (p.Arg233Cys)	not specified [RCV004857347]	uncertain significance	15	41887404	41887404	Human		name
597778368	CV3604217	single nucleotide variant	NM_016642.4(SPTBN5):c.572C>T (p.Thr191Ile)	not specified [RCV004873267]	uncertain significance	15	41888015	41888015	Human		name
597778399	CV3604229	single nucleotide variant	NM_016642.4(SPTBN5):c.7738C>T (p.Leu2580=)	not specified [RCV004873275]	likely benign	15	41861496	41861496	Human		name
597778520	CV3604272	single nucleotide variant	NM_016642.4(SPTBN5):c.5508C>G (p.Thr1836=)	not specified [RCV004873306]	likely benign	15	41870500	41870500	Human		name
597778530	CV3604276	single nucleotide variant	NM_016642.4(SPTBN5):c.995G>A (p.Arg332Gln)	not specified [RCV004873309]	uncertain significance	15	41886260	41886260	Human		name
597778554	CV3604283	single nucleotide variant	NM_016642.4(SPTBN5):c.361G>T (p.Ala121Ser)	not specified [RCV004873315]	uncertain significance	15	41892917	41892917	Human		name
598273039	CV3915793	single nucleotide variant	NM_016642.4(SPTBN5):c.802C>T (p.Arg268Cys)	not specified [RCV005282804]	uncertain significance	15	41887299	41887299	Human		name
15161136	CV703178	single nucleotide variant	NM_016642.4(SPTBN5):c.5766G>A (p.Thr1922=)	not provided [RCV000947617]	benign	15	41869928	41869928	Human		name
15192249	CV703179	single nucleotide variant	NM_016642.4(SPTBN5):c.4293A>G (p.Ala1431=)	not provided [RCV000955012]	benign\|likely benign	15	41875051	41875051	Human		name
15192252	CV703181	single nucleotide variant	NM_016642.4(SPTBN5):c.325C>T (p.Arg109Cys)	not provided [RCV000955013]	benign	15	41892953	41892953	Human		name
15167499	CV726053	single nucleotide variant	NM_016642.4(SPTBN5):c.359G>A (p.Arg120Gln)	not provided [RCV000882859]	likely benign	15	41892919	41892919	Human		name
21074584	CV797121	single nucleotide variant	NM_016642.4(SPTBN5):c.5772G>A (p.Ala1924=)	not provided [RCV000995299]	uncertain significance	15	41869922	41869922	Human		name
8635444	CV90665	single nucleotide variant	NM_016642.3(SPTBN5):c.7245C>T (p.Pro2415=)	Malignant melanoma [RCV000070763]	not provided	15	41862808	41862808	Human		name
150337101	CV1172702	single nucleotide variant	NM_016642.4(SPTBN5):c.10320G>A (p.Glu3440=)	SPTBN5-related disorder [RCV003966166]\|not provided [RCV001541413]	benign	15	41852851	41852851	Human		name , trait , alternate_id
150486573	CV1225763	single nucleotide variant	NM_016642.4(SPTBN5):c.2985G>T (p.Gln995His)	not provided [RCV001617924]	benign	15	41879457	41879457	Human		name
150498915	CV1235646	single nucleotide variant	NM_016642.4(SPTBN5):c.1298A>G (p.His433Arg)	not provided [RCV001656329]	benign	15	41885957	41885957	Human		name
156227945	CV2199366	single nucleotide variant	NM_016642.4(SPTBN5):c.1728C>G (p.Asp576Glu)	not specified [RCV004070942]	uncertain significance	15	41883160	41883160	Human		name
155924704	CV2211629	single nucleotide variant	NM_016642.4(SPTBN5):c.2662C>T (p.Arg888Cys)	not specified [RCV004084523]	uncertain significance	15	41880309	41880309	Human		name
156381518	CV2215598	single nucleotide variant	NM_016642.4(SPTBN5):c.2254G>A (p.Ala752Thr)	not specified [RCV004089359]	uncertain significance	15	41882139	41882139	Human		name
156231771	CV2245110	single nucleotide variant	NM_016642.4(SPTBN5):c.1678G>A (p.Ala560Thr)	not specified [RCV004106909]	likely benign	15	41883210	41883210	Human		name
156033580	CV2256461	single nucleotide variant	NM_016642.4(SPTBN5):c.1076G>A (p.Arg359Gln)	not specified [RCV004118673]	uncertain significance	15	41886179	41886179	Human		name
156214595	CV2257490	single nucleotide variant	NM_016642.4(SPTBN5):c.2683G>A (p.Ala895Thr)	not specified [RCV004125558]	uncertain significance	15	41880288	41880288	Human		name
156001108	CV2257818	single nucleotide variant	NM_016642.4(SPTBN5):c.2017C>A (p.Gln673Lys)	not specified [RCV004127872]	uncertain significance	15	41882614	41882614	Human		name
155967195	CV2261133	single nucleotide variant	NM_016642.4(SPTBN5):c.2918G>A (p.Arg973Gln)	not specified [RCV004128031]	likely benign	15	41879758	41879758	Human		name
156265568	CV2275407	single nucleotide variant	NM_016642.4(SPTBN5):c.1268G>T (p.Arg423Leu)	not specified [RCV004135285]	uncertain significance	15	41885987	41885987	Human		name
155904260	CV2275865	single nucleotide variant	NM_016642.4(SPTBN5):c.2945G>C (p.Trp982Ser)	not specified [RCV004139525]	uncertain significance	15	41879497	41879497	Human		name
156029712	CV2278652	single nucleotide variant	NM_016642.4(SPTBN5):c.1241T>C (p.Leu414Pro)	not specified [RCV004134856]	uncertain significance	15	41886014	41886014	Human		name
156237464	CV2285807	single nucleotide variant	NM_016642.4(SPTBN5):c.1010C>G (p.Ser337Trp)	not specified [RCV004143757]	uncertain significance	15	41886245	41886245	Human		name
156003095	CV2293423	single nucleotide variant	NM_016642.4(SPTBN5):c.1127C>G (p.Ala376Gly)	not specified [RCV004150886]	uncertain significance	15	41886128	41886128	Human		name
156258149	CV2304843	single nucleotide variant	NM_016642.4(SPTBN5):c.2783C>T (p.Thr928Ile)	not specified [RCV004168769]	likely benign	15	41880188	41880188	Human		name
156200636	CV2313090	single nucleotide variant	NM_016642.4(SPTBN5):c.2633A>G (p.Tyr878Cys)	not provided [RCV003404174]\|not specified [RCV004161363]	benign\|uncertain significance	15	41881059	41881059	Human		name
155960855	CV2314074	single nucleotide variant	NM_016642.4(SPTBN5):c.2333C>G (p.Ala778Gly)	not specified [RCV004164348]	uncertain significance	15	41882060	41882060	Human		name
156269533	CV2315004	single nucleotide variant	NM_016642.4(SPTBN5):c.1010C>T (p.Ser337Leu)	not specified [RCV004164924]	uncertain significance	15	41886245	41886245	Human		name
156277184	CV2352014	single nucleotide variant	NM_016642.4(SPTBN5):c.1441G>A (p.Gly481Arg)	not specified [RCV004191113]	uncertain significance	15	41885814	41885814	Human		name
156192612	CV2356994	single nucleotide variant	NM_016642.4(SPTBN5):c.1748C>T (p.Ser583Leu)	not specified [RCV004204359]	uncertain significance	15	41883140	41883140	Human		name
156052465	CV2363436	single nucleotide variant	NM_016642.4(SPTBN5):c.1321T>G (p.Phe441Val)	not specified [RCV004216013]	uncertain significance	15	41885934	41885934	Human		name
156256679	CV2368754	single nucleotide variant	NM_016642.4(SPTBN5):c.2018A>G (p.Gln673Arg)	not specified [RCV004214636]	uncertain significance	15	41882613	41882613	Human		name
156262664	CV2377025	single nucleotide variant	NM_016642.4(SPTBN5):c.2291G>A (p.Arg764Gln)	not specified [RCV004229704]	likely benign	15	41882102	41882102	Human		name
156111306	CV2387784	single nucleotide variant	NM_016642.4(SPTBN5):c.2239G>A (p.Val747Ile)	not specified [RCV004234308]	uncertain significance	15	41882277	41882277	Human		name
156053449	CV2388531	single nucleotide variant	NM_016642.4(SPTBN5):c.1194G>T (p.Gln398His)	not specified [RCV004237382]	uncertain significance	15	41886061	41886061	Human		name
156097550	CV2392707	single nucleotide variant	NM_016642.4(SPTBN5):c.1148G>A (p.Arg383Lys)	not specified [RCV004247082]	uncertain significance	15	41886107	41886107	Human		name
156055015	CV2393167	single nucleotide variant	NM_016642.4(SPTBN5):c.1540C>T (p.Arg514Cys)	not specified [RCV004226643]	uncertain significance	15	41883467	41883467	Human		name
155999732	CV2396465	single nucleotide variant	NM_016642.4(SPTBN5):c.2419C>G (p.Gln807Glu)	not specified [RCV004242175]	uncertain significance	15	41881974	41881974	Human		name
329365156	CV2440085	single nucleotide variant	NM_016642.4(SPTBN5):c.1994C>G (p.Ala665Gly)	not specified [RCV004260552]	uncertain significance	15	41882637	41882637	Human		name
329362154	CV2466065	single nucleotide variant	NM_016642.4(SPTBN5):c.2745G>T (p.Gln915His)	not specified [RCV004277954]	likely benign	15	41880226	41880226	Human		name
329353656	CV2467009	single nucleotide variant	NM_016642.4(SPTBN5):c.2048C>T (p.Ala683Val)	not specified [RCV004282755]	uncertain significance	15	41882468	41882468	Human		name
329392871	CV2469024	single nucleotide variant	NM_016642.4(SPTBN5):c.1541G>A (p.Arg514His)	not specified [RCV004274274]	uncertain significance	15	41883466	41883466	Human		name
329387882	CV2471070	single nucleotide variant	NM_016642.4(SPTBN5):c.2270C>T (p.Ala757Val)	not specified [RCV004278025]	uncertain significance	15	41882123	41882123	Human		name
401733578	CV2682575	single nucleotide variant	NM_016642.4(SPTBN5):c.2800C>A (p.Leu934Ile)	not specified [RCV004290585]	uncertain significance	15	41880171	41880171	Human		name
401725307	CV2697355	single nucleotide variant	NM_016642.4(SPTBN5):c.2365C>G (p.Arg789Gly)	not specified [RCV004304106]	uncertain significance	15	41882028	41882028	Human		name
401773515	CV2716597	single nucleotide variant	NM_016642.4(SPTBN5):c.2089G>A (p.Asp697Asn)	not specified [RCV004327669]	uncertain significance	15	41882427	41882427	Human		name
401720120	CV2735634	single nucleotide variant	NM_016642.4(SPTBN5):c.1288C>T (p.Arg430Cys)	Autism [RCV003311606]\|not specified [RCV004333253]	uncertain significance	15	41885967	41885967	Human	2	name
401877307	CV2764587	single nucleotide variant	NM_016642.4(SPTBN5):c.2645G>A (p.Arg882Gln)	not specified [RCV004339142]	uncertain significance	15	41881047	41881047	Human		name
401916068	CV2817444	single nucleotide variant	NM_016642.4(SPTBN5):c.10842C>A (p.Thr3614=)	not provided [RCV003400876]	likely benign	15	41850933	41850933	Human		name
401934304	CV2817445	single nucleotide variant	NM_016642.4(SPTBN5):c.10719C>T (p.Phe3573=)	not provided [RCV003411167]	likely benign	15	41851307	41851307	Human		name
401916071	CV2817446	single nucleotide variant	NM_016642.4(SPTBN5):c.10656G>A (p.Gln3552=)	not provided [RCV003400877]	benign	15	41851779	41851779	Human		name
401916132	CV2817472	single nucleotide variant	NM_016642.4(SPTBN5):c.2740A>G (p.Lys914Glu)	not provided [RCV003400897]	likely benign	15	41880231	41880231	Human		name
405286057	CV3196571	single nucleotide variant	NM_016642.4(SPTBN5):c.10755C>T (p.Ser3585=)	SPTBN5-related disorder [RCV003981426]	likely benign	15	41851139	41851139	Human		name , trait , alternate_id
405288322	CV3197285	single nucleotide variant	NM_016642.4(SPTBN5):c.1331A>G (p.Asp444Gly)	SPTBN5-related disorder [RCV003982381]	benign	15	41885924	41885924	Human		name , trait , alternate_id
405267364	CV3205422	single nucleotide variant	NM_016642.4(SPTBN5):c.10872G>A (p.Pro3624=)	SPTBN5-related disorder [RCV003947352]	likely benign	15	41850903	41850903	Human		name , trait , alternate_id
405266564	CV3211839	single nucleotide variant	NM_016642.4(SPTBN5):c.10977C>T (p.Cys3659=)	SPTBN5-related disorder [RCV003947122]	likely benign	15	41849904	41849904	Human		name , trait , alternate_id
405262076	CV3212693	single nucleotide variant	NM_016642.4(SPTBN5):c.10338C>T (p.Pro3446=)	SPTBN5-related disorder [RCV003944716]	likely benign	15	41852833	41852833	Human		name , trait , alternate_id
405283062	CV3218395	single nucleotide variant	NM_016642.4(SPTBN5):c.10665G>C (p.Ser3555=)	SPTBN5-related disorder [RCV003957205]	likely benign	15	41851361	41851361	Human		name , trait , alternate_id
405777586	CV3330319	single nucleotide variant	NM_016642.4(SPTBN5):c.1021A>T (p.Met341Leu)	not specified [RCV004458087]	uncertain significance	15	41886234	41886234	Human		name
405777624	CV3330326	single nucleotide variant	NM_016642.4(SPTBN5):c.1054C>T (p.Arg352Cys)	not specified [RCV004458094]	uncertain significance	15	41886201	41886201	Human		name
405777630	CV3330327	single nucleotide variant	NM_016642.4(SPTBN5):c.1055G>A (p.Arg352His)	not specified [RCV004458095]	uncertain significance	15	41886200	41886200	Human		name
405777071	CV3334119	single nucleotide variant	NM_016642.4(SPTBN5):c.1232G>C (p.Ser411Thr)	not specified [RCV004457999]	uncertain significance	15	41886023	41886023	Human		name
405777082	CV3334121	single nucleotide variant	NM_016642.4(SPTBN5):c.1285C>T (p.Arg429Trp)	not specified [RCV004458001]	uncertain significance	15	41885970	41885970	Human		name
405777088	CV3334122	single nucleotide variant	NM_016642.4(SPTBN5):c.1330G>A (p.Asp444Asn)	not specified [RCV004458002]	uncertain significance	15	41885925	41885925	Human		name
405777091	CV3334123	single nucleotide variant	NM_016642.4(SPTBN5):c.1469C>T (p.Ala490Val)	not specified [RCV004458003]	uncertain significance	15	41885786	41885786	Human		name
405777097	CV3334124	single nucleotide variant	NM_016642.4(SPTBN5):c.1793A>G (p.Glu598Gly)	not specified [RCV004458004]	uncertain significance	15	41883095	41883095	Human		name
405777110	CV3334126	single nucleotide variant	NM_016642.4(SPTBN5):c.2122C>T (p.Arg708Cys)	not specified [RCV004458006]	uncertain significance	15	41882394	41882394	Human		name
405777116	CV3334127	single nucleotide variant	NM_016642.4(SPTBN5):c.2204T>A (p.Val735Glu)	not specified [RCV004458007]	uncertain significance	15	41882312	41882312	Human		name
405777119	CV3334128	single nucleotide variant	NM_016642.4(SPTBN5):c.2266G>A (p.Glu756Lys)	not specified [RCV004458008]	uncertain significance	15	41882127	41882127	Human		name
405777125	CV3334129	single nucleotide variant	NM_016642.4(SPTBN5):c.2312C>G (p.Ala771Gly)	not specified [RCV004458009]	uncertain significance	15	41882081	41882081	Human		name
405777128	CV3334130	single nucleotide variant	NM_016642.4(SPTBN5):c.2405G>A (p.Arg802Gln)	not specified [RCV004458010]	uncertain significance	15	41881988	41881988	Human		name
405777134	CV3334131	single nucleotide variant	NM_016642.4(SPTBN5):c.2595C>A (p.Asn865Lys)	not specified [RCV004458011]	uncertain significance	15	41881097	41881097	Human		name
405777140	CV3334132	single nucleotide variant	NM_016642.4(SPTBN5):c.2722C>T (p.Leu908Phe)	not specified [RCV004458012]	uncertain significance	15	41880249	41880249	Human		name
405777146	CV3334133	single nucleotide variant	NM_016642.4(SPTBN5):c.2796G>A (p.Met932Ile)	not specified [RCV004458013]	uncertain significance	15	41880175	41880175	Human		name
407516214	CV3478120	single nucleotide variant	NM_016642.4(SPTBN5):c.1444C>T (p.Arg482Cys)	not specified [RCV004675240]	uncertain significance	15	41885811	41885811	Human		name
407525803	CV3478131	single nucleotide variant	NM_016642.4(SPTBN5):c.2366G>A (p.Arg789Gln)	not specified [RCV004679433]	uncertain significance	15	41882027	41882027	Human		name
407525806	CV3478136	single nucleotide variant	NM_016642.4(SPTBN5):c.1293C>G (p.Phe431Leu)	not specified [RCV004679434]	uncertain significance	15	41885962	41885962	Human		name
407516266	CV3478143	single nucleotide variant	NM_016642.4(SPTBN5):c.2134A>G (p.Thr712Ala)	not specified [RCV004675258]	uncertain significance	15	41882382	41882382	Human		name
407525830	CV3478156	single nucleotide variant	NM_016642.4(SPTBN5):c.1079T>C (p.Leu360Pro)	not specified [RCV004679442]	uncertain significance	15	41886176	41886176	Human		name
407516562	CV3478166	single nucleotide variant	NM_016642.4(SPTBN5):c.1537G>A (p.Val513Met)	not specified [RCV004675271]	uncertain significance	15	41883470	41883470	Human		name
597778349	CV3604208	single nucleotide variant	NM_016642.4(SPTBN5):c.2243T>C (p.Leu748Pro)	not specified [RCV004873262]	uncertain significance	15	41882273	41882273	Human		name
597778387	CV3604226	single nucleotide variant	NM_016642.4(SPTBN5):c.2441G>A (p.Arg814Gln)	not specified [RCV004873272]	uncertain significance	15	41881952	41881952	Human		name
597778391	CV3604227	single nucleotide variant	NM_016642.4(SPTBN5):c.1225G>T (p.Ala409Ser)	not specified [RCV004873273]	likely benign	15	41886030	41886030	Human		name
597680065	CV3604233	single nucleotide variant	NM_016642.4(SPTBN5):c.2783C>G (p.Thr928Ser)	not specified [RCV004857355]	uncertain significance	15	41880188	41880188	Human		name
597778414	CV3604235	single nucleotide variant	NM_016642.4(SPTBN5):c.1682G>T (p.Cys561Phe)	not specified [RCV004873279]	uncertain significance	15	41883206	41883206	Human		name
597778418	CV3604236	single nucleotide variant	NM_016642.4(SPTBN5):c.1811G>A (p.Gly604Asp)	not specified [RCV004873280]	uncertain significance	15	41883077	41883077	Human		name
597680099	CV3604246	single nucleotide variant	NM_016642.4(SPTBN5):c.2405G>C (p.Arg802Pro)	not specified [RCV004857359]	uncertain significance	15	41881988	41881988	Human		name
597778453	CV3604249	single nucleotide variant	NM_016642.4(SPTBN5):c.1774C>T (p.Leu592Phe)	not specified [RCV004873289]	uncertain significance	15	41883114	41883114	Human		name
597680121	CV3604256	single nucleotide variant	NM_016642.4(SPTBN5):c.1516C>T (p.Arg506Cys)	not specified [RCV004857362]	likely benign	15	41885739	41885739	Human		name
597778491	CV3604264	single nucleotide variant	NM_016642.4(SPTBN5):c.1800C>G (p.Asp600Glu)	not specified [RCV004873299]	uncertain significance	15	41883088	41883088	Human		name
597778524	CV3604273	single nucleotide variant	NM_016642.4(SPTBN5):c.1930T>A (p.Phe644Ile)	not specified [RCV004873307]	uncertain significance	15	41882701	41882701	Human		name
598273020	CV3915788	single nucleotide variant	NM_016642.4(SPTBN5):c.2893C>T (p.Pro965Ser)	not specified [RCV005282799]	uncertain significance	15	41879783	41879783	Human		name
598273091	CV3915809	single nucleotide variant	NM_016642.4(SPTBN5):c.2443G>C (p.Ala815Pro)	not specified [RCV005282817]	uncertain significance	15	41881950	41881950	Human		name
598273126	CV3915821	single nucleotide variant	NM_016642.4(SPTBN5):c.2369T>C (p.Leu790Pro)	not specified [RCV005282827]	uncertain significance	15	41882024	41882024	Human		name
598273140	CV3915825	single nucleotide variant	NM_016642.4(SPTBN5):c.1498A>G (p.Ser500Gly)	not specified [RCV005282831]	likely benign	15	41885757	41885757	Human		name
598273143	CV3915826	single nucleotide variant	NM_016642.4(SPTBN5):c.1876G>A (p.Ala626Thr)	not specified [RCV005282832]	uncertain significance	15	41883012	41883012	Human		name
598273154	CV3915829	single nucleotide variant	NM_016642.4(SPTBN5):c.2057C>T (p.Ala686Val)	not specified [RCV005282835]	uncertain significance	15	41882459	41882459	Human		name
598273158	CV3915830	single nucleotide variant	NM_016642.4(SPTBN5):c.1705G>T (p.Val569Leu)	not specified [RCV005282836]	uncertain significance	15	41883183	41883183	Human		name
598239414	CV3915832	single nucleotide variant	NM_016642.4(SPTBN5):c.2359C>T (p.His787Tyr)	not specified [RCV005276011]	uncertain significance	15	41882034	41882034	Human		name
617149546	CV4021373	single nucleotide variant	NM_016642.4(SPTBN5):c.1115G>A (p.Arg372Gln)	not provided [RCV005425342]	likely benign	15	41886140	41886140	Human		name
21074583	CV797120	duplication	NM_016642.4(SPTBN5):c.6826dup (p.Val2276fs)	not provided [RCV000995298]	uncertain significance	15	41865899	41865900	Human		name
8635443	CV90664	single nucleotide variant	NM_016642.3(SPTBN5):c.10626C>T (p.Phe3542=)	Malignant melanoma [RCV000070762]	not provided	15	41851809	41851809	Human		name
150331252	CV1163604	single nucleotide variant	NM_016642.4(SPTBN5):c.8869T>C (p.Tyr2957His)	not provided [RCV001527728]	benign	15	41856538	41856538	Human		name
150339975	CV1168321	single nucleotide variant	NM_016642.4(SPTBN5):c.9824C>G (p.Ala3275Gly)	not provided [RCV001534817]	benign	15	41853738	41853738	Human		name
150333140	CV1172704	single nucleotide variant	NM_016642.4(SPTBN5):c.4034G>A (p.Arg1345His)	not provided [RCV001539337]	benign	15	41876202	41876202	Human		name
150483175	CV1223546	single nucleotide variant	NM_016642.4(SPTBN5):c.3178G>A (p.Val1060Ile)	not provided [RCV001617260]	benign	15	41879264	41879264	Human		name
150511409	CV1229455	single nucleotide variant	NM_016642.4(SPTBN5):c.3103T>C (p.Cys1035Arg)	not provided [RCV001637384]	benign	15	41879339	41879339	Human		name
150446151	CV1233297	single nucleotide variant	NM_016642.4(SPTBN5):c.8585A>G (p.Gln2862Arg)	not provided [RCV001645971]	benign	15	41857274	41857274	Human		name
150474177	CV1234405	single nucleotide variant	NM_016642.4(SPTBN5):c.4679G>A (p.Arg1560His)	not provided [RCV001651725]	benign	15	41874302	41874302	Human	2	name
150474177	CV1234405	single nucleotide variant	NM_016642.4(SPTBN5):c.4679G>A (p.Arg1560His)	not provided [RCV001651725]	benign	15	41874302	41874303	Human	2	name
150457980	CV1237151	single nucleotide variant	NM_016642.4(SPTBN5):c.6685C>T (p.Arg2229Trp)	SPTBN5-related disorder [RCV003980857]\|not provided [RCV001648830]	benign	15	41866175	41866175	Human		name , trait , alternate_id
150441824	CV1246797	single nucleotide variant	NM_016642.4(SPTBN5):c.8138C>T (p.Thr2713Ile)	not provided [RCV001666451]	benign	15	41858690	41858690	Human		name
150484157	CV1247079	single nucleotide variant	NM_016642.4(SPTBN5):c.8551C>G (p.Gln2851Glu)	not provided [RCV001673575]	benign	15	41857308	41857308	Human		name
150498105	CV1281780	single nucleotide variant	NM_016642.4(SPTBN5):c.8461G>C (p.Gly2821Arg)	not provided [RCV001717960]	benign	15	41857398	41857398	Human		name
150516202	CV1287249	single nucleotide variant	NM_016642.4(SPTBN5):c.5647C>T (p.Arg1883Ter)	not provided [RCV001723245]	benign	15	41870269	41870269	Human		name
155964105	CV2194234	single nucleotide variant	NM_016642.4(SPTBN5):c.6751C>A (p.Leu2251Met)	not specified [RCV004079356]	uncertain significance	15	41866109	41866109	Human		name
156170871	CV2197947	single nucleotide variant	NM_016642.4(SPTBN5):c.8972G>C (p.Arg2991Thr)	not specified [RCV004077161]	uncertain significance	15	41856435	41856435	Human		name
156318706	CV2200369	single nucleotide variant	NM_016642.4(SPTBN5):c.4433T>G (p.Leu1478Arg)	not specified [RCV004076695]	uncertain significance	15	41874911	41874911	Human		name
155921305	CV2207152	single nucleotide variant	NM_016642.4(SPTBN5):c.6392G>T (p.Arg2131Leu)	not specified [RCV004087891]	uncertain significance	15	41867047	41867047	Human		name
156104812	CV2207520	single nucleotide variant	NM_016642.4(SPTBN5):c.5720C>T (p.Pro1907Leu)	not specified [RCV004089987]	uncertain significance	15	41869974	41869974	Human		name
156328629	CV2213653	single nucleotide variant	NM_016642.4(SPTBN5):c.5765C>T (p.Thr1922Met)	not specified [RCV004089732]	likely benign	15	41869929	41869929	Human		name
156327433	CV2217277	single nucleotide variant	NM_016642.4(SPTBN5):c.7768C>T (p.Arg2590Cys)	not specified [RCV004087723]	uncertain significance	15	41861466	41861466	Human		name
156331906	CV2218230	single nucleotide variant	NM_016642.4(SPTBN5):c.4232G>A (p.Arg1411His)	not specified [RCV004088430]	uncertain significance	15	41875513	41875513	Human		name
156331788	CV2220583	single nucleotide variant	NM_016642.4(SPTBN5):c.5116G>C (p.Glu1706Gln)	not specified [RCV004097779]	uncertain significance	15	41872351	41872351	Human		name
156238421	CV2221172	single nucleotide variant	NM_016642.4(SPTBN5):c.5161A>C (p.Thr1721Pro)	not specified [RCV004094619]	uncertain significance	15	41872306	41872306	Human		name
156067125	CV2225659	single nucleotide variant	NM_016642.4(SPTBN5):c.8689A>C (p.Lys2897Gln)	not specified [RCV004102810]	likely benign	15	41856972	41856972	Human		name
156341615	CV2225881	single nucleotide variant	NM_016642.4(SPTBN5):c.8014G>A (p.Gly2672Arg)	not specified [RCV004103273]	likely benign	15	41858955	41858955	Human		name
156063954	CV2228867	single nucleotide variant	NM_016642.4(SPTBN5):c.7499G>T (p.Arg2500Leu)	not specified [RCV004095098]	uncertain significance	15	41862179	41862179	Human		name
156201112	CV2234330	single nucleotide variant	NM_016642.4(SPTBN5):c.8710G>A (p.Glu2904Lys)	not specified [RCV004100564]	uncertain significance	15	41856951	41856951	Human		name
155918135	CV2236747	single nucleotide variant	NM_016642.4(SPTBN5):c.8495T>C (p.Leu2832Pro)	not specified [RCV004112523]	uncertain significance	15	41857364	41857364	Human		name
156236528	CV2239021	single nucleotide variant	NM_016642.4(SPTBN5):c.8716A>G (p.Met2906Val)	not specified [RCV004109903]	uncertain significance	15	41856945	41856945	Human		name
156059077	CV2239304	single nucleotide variant	NM_016642.4(SPTBN5):c.7468C>T (p.Arg2490Trp)	not specified [RCV004114052]	uncertain significance	15	41862210	41862210	Human		name
155922290	CV2240663	single nucleotide variant	NM_016642.4(SPTBN5):c.9519G>T (p.Glu3173Asp)	not specified [RCV004119297]	uncertain significance	15	41854881	41854881	Human		name
156300487	CV2244915	single nucleotide variant	NM_016642.4(SPTBN5):c.7420A>G (p.Lys2474Glu)	not specified [RCV004104664]	uncertain significance	15	41862258	41862258	Human		name
156315071	CV2253351	single nucleotide variant	NM_016642.4(SPTBN5):c.7282G>A (p.Gly2428Ser)	not specified [RCV004123178]	uncertain significance	15	41862642	41862642	Human		name
156369847	CV2263428	single nucleotide variant	NM_016642.4(SPTBN5):c.7136G>A (p.Arg2379Lys)	not specified [RCV004133678]	uncertain significance	15	41863717	41863717	Human		name
156052000	CV2269396	single nucleotide variant	NM_016642.4(SPTBN5):c.9187G>C (p.Ala3063Pro)	not specified [RCV004124524]	uncertain significance	15	41855580	41855580	Human		name
156332844	CV2270394	single nucleotide variant	NM_016642.4(SPTBN5):c.3058C>T (p.Leu1020Phe)	not specified [RCV004135587]	uncertain significance	15	41879384	41879384	Human		name
156014722	CV2272235	single nucleotide variant	NM_016642.4(SPTBN5):c.5365G>A (p.Ala1789Thr)	not specified [RCV004126911]	likely benign	15	41871457	41871457	Human		name
156255612	CV2277520	single nucleotide variant	NM_016642.4(SPTBN5):c.9352G>A (p.Asp3118Asn)	not specified [RCV004145210]	uncertain significance	15	41855295	41855295	Human		name
156258721	CV2277766	single nucleotide variant	NM_016642.4(SPTBN5):c.3495C>A (p.Ser1165Arg)	not specified [RCV004147202]	uncertain significance	15	41877332	41877332	Human		name
156029198	CV2278602	single nucleotide variant	NM_016642.4(SPTBN5):c.8914G>A (p.Ala2972Thr)	not specified [RCV004133025]	uncertain significance	15	41856493	41856493	Human		name
156041678	CV2279225	single nucleotide variant	NM_016642.4(SPTBN5):c.3508G>A (p.Ala1170Thr)	not specified [RCV004139450]	uncertain significance	15	41877319	41877319	Human		name
155920426	CV2279592	single nucleotide variant	NM_016642.4(SPTBN5):c.7670A>T (p.Glu2557Val)	not specified [RCV004142093]	uncertain significance	15	41861802	41861802	Human		name
156242620	CV2283204	single nucleotide variant	NM_016642.4(SPTBN5):c.7646A>G (p.Gln2549Arg)	not specified [RCV004145882]	uncertain significance	15	41861826	41861826	Human		name
156245365	CV2283419	single nucleotide variant	NM_016642.4(SPTBN5):c.6388C>T (p.Arg2130Cys)	not specified [RCV004139644]	uncertain significance	15	41867051	41867051	Human		name
156127761	CV2283820	single nucleotide variant	NM_016642.4(SPTBN5):c.9491C>A (p.Ala3164Asp)	not specified [RCV004142335]	uncertain significance	15	41854909	41854909	Human		name
156066203	CV2284497	single nucleotide variant	NM_016642.4(SPTBN5):c.7012C>G (p.Arg2338Gly)	not specified [RCV004599529]	uncertain significance	15	41863931	41863931	Human		name
156237446	CV2285806	single nucleotide variant	NM_016642.4(SPTBN5):c.7366C>T (p.Arg2456Trp)	not specified [RCV004143756]	uncertain significance	15	41862558	41862558	Human		name
156065032	CV2287252	single nucleotide variant	NM_016642.4(SPTBN5):c.9611G>A (p.Arg3204His)	not specified [RCV004146896]	uncertain significance	15	41854789	41854789	Human		name
156085777	CV2289862	single nucleotide variant	NM_016642.4(SPTBN5):c.3055G>A (p.Val1019Met)	not specified [RCV004150522]	uncertain significance	15	41879387	41879387	Human		name
156071912	CV2289863	single nucleotide variant	NM_016642.4(SPTBN5):c.7753G>A (p.Val2585Met)	not specified [RCV004150523]	uncertain significance	15	41861481	41861481	Human		name
156087617	CV2290602	single nucleotide variant	NM_016642.4(SPTBN5):c.9818C>A (p.Thr3273Lys)	not specified [RCV004149144]	uncertain significance	15	41853744	41853744	Human		name
155941271	CV2294223	single nucleotide variant	NM_016642.4(SPTBN5):c.4406G>A (p.Arg1469Gln)	not specified [RCV004149577]	likely benign	15	41874938	41874938	Human		name
156004543	CV2295969	single nucleotide variant	NM_016642.4(SPTBN5):c.4553C>T (p.Ala1518Val)	not specified [RCV004151861]	uncertain significance	15	41874428	41874428	Human		name
156291974	CV2296739	single nucleotide variant	NM_016642.4(SPTBN5):c.4940C>T (p.Pro1647Leu)	not specified [RCV004148645]	uncertain significance	15	41873559	41873559	Human		name
156189948	CV2301687	single nucleotide variant	NM_016642.4(SPTBN5):c.5125C>T (p.Arg1709Trp)	not specified [RCV004156511]	uncertain significance	15	41872342	41872342	Human		name
156269546	CV2305891	single nucleotide variant	NM_016642.4(SPTBN5):c.5740G>T (p.Val1914Leu)	not specified [RCV004167680]	uncertain significance	15	41869954	41869954	Human		name
156200176	CV2313055	single nucleotide variant	NM_016642.4(SPTBN5):c.6138G>T (p.Gln2046His)	not specified [RCV004161333]	uncertain significance	15	41868138	41868138	Human		name
156057457	CV2316805	single nucleotide variant	NM_016642.4(SPTBN5):c.8344A>C (p.Lys2782Gln)	not specified [RCV004172298]	uncertain significance	15	41857593	41857593	Human		name
156056450	CV2320616	single nucleotide variant	NM_016642.4(SPTBN5):c.4355G>A (p.Arg1452His)	not specified [RCV004172232]	uncertain significance	15	41874989	41874989	Human		name
156292233	CV2321194	single nucleotide variant	NM_016642.4(SPTBN5):c.9182C>T (p.Thr3061Ile)	not specified [RCV004175316]	uncertain significance	15	41855585	41855585	Human		name
156148675	CV2321764	single nucleotide variant	NM_016642.4(SPTBN5):c.5026G>A (p.Ala1676Thr)	not specified [RCV004179757]	likely benign	15	41872441	41872441	Human		name
156179038	CV2324139	single nucleotide variant	NM_016642.4(SPTBN5):c.3990G>A (p.Met1330Ile)	not specified [RCV004176890]	uncertain significance	15	41876246	41876246	Human		name
156192066	CV2325679	single nucleotide variant	NM_016642.4(SPTBN5):c.6056A>G (p.Glu2019Gly)	not specified [RCV004180086]	uncertain significance	15	41868399	41868399	Human		name
156277869	CV2330873	single nucleotide variant	NM_016642.4(SPTBN5):c.6118C>T (p.Arg2040Trp)	not specified [RCV004185928]	uncertain significance	15	41868158	41868158	Human		name
156062794	CV2330961	single nucleotide variant	NM_016642.4(SPTBN5):c.3280C>T (p.Arg1094Trp)	not specified [RCV004188005]	uncertain significance	15	41878532	41878532	Human		name
156077427	CV2331879	single nucleotide variant	NM_016642.4(SPTBN5):c.9169C>T (p.Arg3057Trp)	not specified [RCV004186534]	uncertain significance	15	41855598	41855598	Human		name
155972221	CV2334311	single nucleotide variant	NM_016642.4(SPTBN5):c.5597G>A (p.Arg1866Gln)	not specified [RCV004188291]	likely benign	15	41870319	41870319	Human		name
156168467	CV2337295	single nucleotide variant	NM_016642.4(SPTBN5):c.7910C>T (p.Ala2637Val)	not specified [RCV004187748]	uncertain significance	15	41860664	41860664	Human		name
156196506	CV2337973	single nucleotide variant	NM_016642.4(SPTBN5):c.6916G>A (p.Gly2306Arg)	not specified [RCV004186018]	uncertain significance	15	41865810	41865810	Human		name
155922990	CV2340716	single nucleotide variant	NM_016642.4(SPTBN5):c.3160T>C (p.Phe1054Leu)	not specified [RCV004190386]	likely benign	15	41879282	41879282	Human		name
155922993	CV2340717	single nucleotide variant	NM_016642.4(SPTBN5):c.6560C>T (p.Pro2187Leu)	not specified [RCV004190387]	uncertain significance	15	41866414	41866414	Human		name
156084163	CV2343194	single nucleotide variant	NM_016642.4(SPTBN5):c.9695C>T (p.Thr3232Met)	not specified [RCV004194824]	uncertain significance	15	41854129	41854129	Human		name
156175304	CV2346005	single nucleotide variant	NM_016642.4(SPTBN5):c.6326G>A (p.Arg2109His)	not specified [RCV004199037]	uncertain significance	15	41867113	41867113	Human		name
156345119	CV2346373	single nucleotide variant	NM_016642.4(SPTBN5):c.7642C>T (p.Arg2548Cys)	not specified [RCV004203854]	uncertain significance	15	41861830	41861830	Human		name
156235772	CV2346388	single nucleotide variant	NM_016642.4(SPTBN5):c.3752G>A (p.Arg1251Gln)	not specified [RCV004203868]	likely benign	15	41876908	41876908	Human		name
156215402	CV2347858	single nucleotide variant	NM_016642.4(SPTBN5):c.5668C>T (p.Arg1890Trp)	not specified [RCV004195509]	uncertain significance	15	41870248	41870248	Human		name
155905515	CV2349787	single nucleotide variant	NM_016642.4(SPTBN5):c.7102G>A (p.Val2368Met)	not specified [RCV004204199]	likely benign	15	41863751	41863751	Human		name
155982698	CV2351721	single nucleotide variant	NM_016642.4(SPTBN5):c.6980G>A (p.Arg2327Gln)	not specified [RCV004195425]	likely benign	15	41863963	41863963	Human		name
156122458	CV2354331	single nucleotide variant	NM_016642.4(SPTBN5):c.8488A>G (p.Arg2830Gly)	not specified [RCV004206748]	likely benign	15	41857371	41857371	Human		name
155907875	CV2354516	single nucleotide variant	NM_016642.4(SPTBN5):c.8024G>A (p.Arg2675His)	not specified [RCV004202501]	uncertain significance	15	41858945	41858945	Human		name
156345568	CV2356282	single nucleotide variant	NM_016642.4(SPTBN5):c.5669G>A (p.Arg1890Gln)	not specified [RCV004206092]	likely benign	15	41870247	41870247	Human		name
155902427	CV2356455	single nucleotide variant	NM_016642.4(SPTBN5):c.6391C>T (p.Arg2131Trp)	not specified [RCV004199375]	uncertain significance	15	41867048	41867048	Human		name
156136456	CV2357183	single nucleotide variant	NM_016642.4(SPTBN5):c.3725A>G (p.Glu1242Gly)	not specified [RCV004206969]	uncertain significance	15	41876935	41876935	Human		name
155924650	CV2358187	single nucleotide variant	NM_016642.4(SPTBN5):c.8470G>A (p.Glu2824Lys)	not specified [RCV004211987]	uncertain significance	15	41857389	41857389	Human		name
156255759	CV2359473	single nucleotide variant	NM_016642.4(SPTBN5):c.9917G>A (p.Arg3306Gln)	not specified [RCV004214789]	uncertain significance	15	41853645	41853645	Human		name
156156125	CV2359807	single nucleotide variant	NM_016642.4(SPTBN5):c.9274C>T (p.Arg3092Trp)	not specified [RCV004212666]	uncertain significance	15	41855373	41855373	Human		name
155938169	CV2364981	single nucleotide variant	NM_016642.4(SPTBN5):c.8703C>G (p.Asp2901Glu)	not specified [RCV004222274]	uncertain significance	15	41856958	41856958	Human		name
156074657	CV2365543	single nucleotide variant	NM_016642.4(SPTBN5):c.5887C>T (p.Arg1963Cys)	not specified [RCV004211658]	uncertain significance	15	41868568	41868568	Human		name
156017777	CV2370166	single nucleotide variant	NM_016642.4(SPTBN5):c.3598A>G (p.Arg1200Gly)	not specified [RCV004211048]	uncertain significance	15	41877229	41877229	Human		name
155934205	CV2372415	single nucleotide variant	NM_016642.4(SPTBN5):c.8749G>A (p.Ala2917Thr)	not specified [RCV004217178]	likely benign	15	41856912	41856912	Human		name
156387508	CV2372769	single nucleotide variant	NM_016642.4(SPTBN5):c.6332G>A (p.Arg2111Gln)	not specified [RCV004221956]	likely benign	15	41867107	41867107	Human		name
156169601	CV2373910	single nucleotide variant	NM_016642.4(SPTBN5):c.4081G>A (p.Glu1361Lys)	not specified [RCV004224841]	uncertain significance	15	41876155	41876155	Human		name
156036450	CV2373987	single nucleotide variant	NM_016642.4(SPTBN5):c.8103G>C (p.Lys2701Asn)	not specified [RCV004227117]	uncertain significance	15	41858725	41858725	Human		name
155995968	CV2375877	single nucleotide variant	NM_016642.4(SPTBN5):c.5884G>A (p.Val1962Met)	not specified [RCV004217721]	uncertain significance	15	41868571	41868571	Human		name
155937181	CV2376334	single nucleotide variant	NM_016642.4(SPTBN5):c.3004G>A (p.Val1002Met)	SPTBN5-related disorder [RCV003918991]\|not specified [RCV004222594]	likely benign\|uncertain significance	15	41879438	41879438	Human		name , trait , alternate_id
156068279	CV2381159	single nucleotide variant	NM_016642.4(SPTBN5):c.9124G>C (p.Glu3042Gln)	not specified [RCV004225187]	uncertain significance	15	41855643	41855643	Human		name
156260743	CV2381218	single nucleotide variant	NM_016642.4(SPTBN5):c.4373A>C (p.Gln1458Pro)	not specified [RCV004227286]	uncertain significance	15	41874971	41874971	Human		name
156069272	CV2381229	single nucleotide variant	NM_016642.4(SPTBN5):c.8720C>T (p.Ala2907Val)	not specified [RCV004227295]	uncertain significance	15	41856941	41856941	Human		name
156183718	CV2382266	single nucleotide variant	NM_016642.4(SPTBN5):c.7000A>T (p.Ile2334Phe)	not specified [RCV004228207]	uncertain significance	15	41863943	41863943	Human		name
156218073	CV2386205	single nucleotide variant	NM_016642.4(SPTBN5):c.9115C>T (p.Arg3039Trp)	not specified [RCV004229243]	uncertain significance	15	41855652	41855652	Human		name
155929705	CV2389216	single nucleotide variant	NM_016642.4(SPTBN5):c.7667A>G (p.Gln2556Arg)	not specified [RCV004235540]	uncertain significance	15	41861805	41861805	Human		name
156092197	CV2389552	single nucleotide variant	NM_016642.4(SPTBN5):c.7040C>T (p.Ala2347Val)	not specified [RCV004243621]	uncertain significance	15	41863813	41863813	Human		name
156062503	CV2392127	single nucleotide variant	NM_016642.4(SPTBN5):c.5509G>A (p.Glu1837Lys)	not specified [RCV004238022]	uncertain significance	15	41870499	41870499	Human		name
156201381	CV2392487	single nucleotide variant	NM_016642.4(SPTBN5):c.9400G>A (p.Gly3134Arg)	not specified [RCV004244058]	uncertain significance	15	41855247	41855247	Human		name
156142962	CV2393507	single nucleotide variant	NM_016642.4(SPTBN5):c.8381G>A (p.Arg2794Gln)	not specified [RCV004231330]	uncertain significance	15	41857478	41857478	Human		name
155953169	CV2393910	single nucleotide variant	NM_016642.4(SPTBN5):c.7492G>A (p.Ala2498Thr)	not specified [RCV004233729]	likely benign	15	41862186	41862186	Human		name
156223179	CV2394859	single nucleotide variant	NM_016642.4(SPTBN5):c.3788G>A (p.Arg1263Gln)	not specified [RCV004234518]	uncertain significance	15	41876872	41876872	Human		name
156084162	CV2395134	single nucleotide variant	NM_016642.4(SPTBN5):c.4085T>C (p.Leu1362Pro)	not specified [RCV004236811]	uncertain significance	15	41876151	41876151	Human		name
155966541	CV2396084	single nucleotide variant	NM_016642.4(SPTBN5):c.5596C>T (p.Arg1866Trp)	not specified [RCV004237618]	uncertain significance	15	41870320	41870320	Human		name
156165535	CV2398830	single nucleotide variant	NM_016642.4(SPTBN5):c.7945G>A (p.Glu2649Lys)	not specified [RCV004245153]	uncertain significance	15	41860629	41860629	Human		name
156002510	CV2399557	single nucleotide variant	NM_016642.4(SPTBN5):c.4393G>A (p.Glu1465Lys)	not specified [RCV004244083]	uncertain significance	15	41874951	41874951	Human		name
329376405	CV2425126	single nucleotide variant	NM_016642.4(SPTBN5):c.4216C>T (p.Arg1406Cys)	not specified [RCV004249018]	likely benign	15	41875529	41875529	Human		name
329385345	CV2432091	single nucleotide variant	NM_016642.4(SPTBN5):c.4378C>T (p.Arg1460Trp)	not specified [RCV004249241]	uncertain significance	15	41874966	41874966	Human		name
329383127	CV2434402	single nucleotide variant	NM_016642.4(SPTBN5):c.5792G>A (p.Arg1931His)	not specified [RCV004254118]	uncertain significance	15	41869902	41869902	Human		name
329374218	CV2434739	single nucleotide variant	NM_016642.4(SPTBN5):c.8236A>G (p.Arg2746Gly)	not specified [RCV004248445]	uncertain significance	15	41857701	41857701	Human		name
329377749	CV2436022	single nucleotide variant	NM_016642.4(SPTBN5):c.5764A>G (p.Thr1922Ala)	not specified [RCV004255242]	uncertain significance	15	41869930	41869930	Human		name
329387549	CV2436544	single nucleotide variant	NM_016642.4(SPTBN5):c.7349A>C (p.Glu2450Ala)	not specified [RCV004253702]	uncertain significance	15	41862575	41862575	Human		name
329366272	CV2438307	single nucleotide variant	NM_016642.4(SPTBN5):c.8308G>C (p.Gly2770Arg)	not specified [RCV004257060]	uncertain significance	15	41857629	41857629	Human		name
329365002	CV2443911	single nucleotide variant	NM_016642.4(SPTBN5):c.9374C>T (p.Ala3125Val)	not specified [RCV004258241]	likely benign	15	41855273	41855273	Human		name
329391879	CV2445095	single nucleotide variant	NM_016642.4(SPTBN5):c.9539A>G (p.Tyr3180Cys)	not specified [RCV004261699]	uncertain significance	15	41854861	41854861	Human		name
329388511	CV2447590	single nucleotide variant	NM_016642.4(SPTBN5):c.9863G>A (p.Gly3288Asp)	not specified [RCV004258397]	uncertain significance	15	41853699	41853699	Human		name
329385210	CV2451094	single nucleotide variant	NM_016642.4(SPTBN5):c.9994G>A (p.Glu3332Lys)	SPTBN5-related disorder [RCV003396949]\|not specified [RCV004270035]	uncertain significance	15	41853434	41853434	Human		name , trait , alternate_id
329396058	CV2451858	single nucleotide variant	NM_016642.4(SPTBN5):c.6377T>A (p.Ile2126Asn)	not specified [RCV004276539]	uncertain significance	15	41867062	41867062	Human		name
329386915	CV2452683	single nucleotide variant	NM_016642.4(SPTBN5):c.3361G>A (p.Val1121Ile)	not specified [RCV004275243]	likely benign	15	41878451	41878451	Human		name
329367812	CV2457111	single nucleotide variant	NM_016642.4(SPTBN5):c.7541A>G (p.Glu2514Gly)	not specified [RCV004264889]	uncertain significance	15	41862137	41862137	Human		name
329399562	CV2470155	single nucleotide variant	NM_016642.4(SPTBN5):c.8733G>C (p.Glu2911Asp)	not specified [RCV004287401]	uncertain significance	15	41856928	41856928	Human		name
329393726	CV2472030	single nucleotide variant	NM_016642.4(SPTBN5):c.4162G>A (p.Glu1388Lys)	not specified [RCV004283176]	uncertain significance	15	41875583	41875583	Human		name
329954413	CV2669097	single nucleotide variant	NM_016642.4(SPTBN5):c.9307G>A (p.Glu3103Lys)	See cases [RCV003232930]	uncertain significance	15	41855340	41855340	Human		name
329954414	CV2669098	single nucleotide variant	NM_016642.4(SPTBN5):c.6508C>T (p.Gln2170Ter)	See cases [RCV003232931]	uncertain significance	15	41866466	41866466	Human		name
401780095	CV2676815	single nucleotide variant	NM_016642.4(SPTBN5):c.6266G>A (p.Arg2089His)	not specified [RCV004290984]	uncertain significance	15	41867584	41867584	Human		name
401722867	CV2677122	single nucleotide variant	NM_016642.4(SPTBN5):c.9166G>A (p.Glu3056Lys)	not specified [RCV004295757]	uncertain significance	15	41855601	41855601	Human		name
401741932	CV2677471	single nucleotide variant	NM_016642.4(SPTBN5):c.3377G>A (p.Arg1126His)	not specified [RCV004289540]	likely benign	15	41878435	41878435	Human		name
401723907	CV2684908	single nucleotide variant	NM_016642.4(SPTBN5):c.9677G>A (p.Gly3226Glu)	not specified [RCV004296413]	uncertain significance	15	41854147	41854147	Human		name
401780747	CV2685702	single nucleotide variant	NM_016642.4(SPTBN5):c.8554G>T (p.Ala2852Ser)	not specified [RCV004296750]	uncertain significance	15	41857305	41857305	Human		name
401749215	CV2693012	single nucleotide variant	NM_016642.4(SPTBN5):c.7081G>A (p.Glu2361Lys)	not specified [RCV004308562]	uncertain significance	15	41863772	41863772	Human		name
401749948	CV2695886	single nucleotide variant	NM_016642.4(SPTBN5):c.5965C>T (p.Arg1989Trp)	not specified [RCV004308165]	uncertain significance	15	41868490	41868490	Human		name
401747755	CV2696784	single nucleotide variant	NM_016642.4(SPTBN5):c.7195G>C (p.Val2399Leu)	not specified [RCV004290755]	uncertain significance	15	41862858	41862858	Human		name
401742655	CV2697830	single nucleotide variant	NM_016642.4(SPTBN5):c.5186C>T (p.Thr1729Ile)	not specified [RCV004300547]	uncertain significance	15	41871897	41871897	Human		name
401761406	CV2702324	single nucleotide variant	NM_016642.4(SPTBN5):c.6887G>A (p.Arg2296Gln)	not specified [RCV004316856]	likely benign	15	41865839	41865839	Human		name
401783117	CV2703799	single nucleotide variant	NM_016642.4(SPTBN5):c.9160C>T (p.Arg3054Cys)	not specified [RCV004306670]	uncertain significance	15	41855607	41855607	Human		name
401748407	CV2704283	single nucleotide variant	NM_016642.4(SPTBN5):c.8419G>A (p.Glu2807Lys)	Autism [RCV003294668]\|not specified [RCV004311271]	uncertain significance	15	41857440	41857440	Human	2	name
401748630	CV2704351	single nucleotide variant	NM_016642.4(SPTBN5):c.8609G>A (p.Arg2870Gln)	not specified [RCV004311327]	likely benign	15	41857250	41857250	Human		name
401732318	CV2708775	single nucleotide variant	NM_016642.4(SPTBN5):c.9377C>T (p.Ala3126Val)	not specified [RCV004307737]	uncertain significance	15	41855270	41855270	Human		name
401773252	CV2709210	single nucleotide variant	NM_016642.4(SPTBN5):c.4612G>A (p.Glu1538Lys)	not specified [RCV004316382]	uncertain significance	15	41874369	41874369	Human		name
401771338	CV2711620	single nucleotide variant	NM_016642.4(SPTBN5):c.5849C>T (p.Thr1950Met)	not specified [RCV004307261]	uncertain significance	15	41869845	41869845	Human		name
401748705	CV2713317	single nucleotide variant	NM_016642.4(SPTBN5):c.8675G>A (p.Arg2892Gln)	not specified [RCV004316830]	uncertain significance	15	41856986	41856986	Human		name
401763112	CV2720199	single nucleotide variant	NM_016642.4(SPTBN5):c.3289C>T (p.Arg1097Cys)	not specified [RCV004325538]	uncertain significance	15	41878523	41878523	Human		name
401784234	CV2721180	single nucleotide variant	NM_016642.4(SPTBN5):c.6091C>T (p.Arg2031Trp)	not specified [RCV004330153]	uncertain significance	15	41868185	41868185	Human		name
401742089	CV2722088	single nucleotide variant	NM_016642.4(SPTBN5):c.8725G>A (p.Val2909Met)	not specified [RCV004328352]	uncertain significance	15	41856936	41856936	Human		name
401763885	CV2725344	single nucleotide variant	NM_016642.4(SPTBN5):c.9346C>T (p.Leu3116Phe)	not specified [RCV004319999]	uncertain significance	15	41855301	41855301	Human		name
401780606	CV2727469	single nucleotide variant	NM_016642.4(SPTBN5):c.3452T>G (p.Ile1151Ser)	not specified [RCV004329673]	uncertain significance	15	41878360	41878360	Human		name
401855950	CV2754140	single nucleotide variant	NM_016642.4(SPTBN5):c.8200A>G (p.Met2734Val)	not specified [RCV004334335]	likely benign	15	41858628	41858628	Human		name
401865533	CV2755549	single nucleotide variant	NM_016642.4(SPTBN5):c.7231C>T (p.Arg2411Trp)	not specified [RCV004340129]	uncertain significance	15	41862822	41862822	Human		name
401865725	CV2755614	single nucleotide variant	NM_016642.4(SPTBN5):c.8044C>T (p.Arg2682Trp)	not specified [RCV004342003]	uncertain significance	15	41858925	41858925	Human		name
401899875	CV2755766	single nucleotide variant	NM_016642.4(SPTBN5):c.4105G>C (p.Val1369Leu)	not specified [RCV004342143]	uncertain significance	15	41876131	41876131	Human		name
401862992	CV2755767	single nucleotide variant	NM_016642.4(SPTBN5):c.5631C>A (p.Ser1877Arg)	not specified [RCV004342144]	likely benign	15	41870285	41870285	Human		name
401889579	CV2756543	single nucleotide variant	NM_016642.4(SPTBN5):c.8297G>A (p.Gly2766Glu)	not specified [RCV004345071]	uncertain significance	15	41857640	41857640	Human		name
401864410	CV2760903	single nucleotide variant	NM_016642.4(SPTBN5):c.8569G>A (p.Gly2857Ser)	not specified [RCV004336537]	uncertain significance	15	41857290	41857290	Human		name
401888915	CV2765067	single nucleotide variant	NM_016642.4(SPTBN5):c.5279G>T (p.Gly1760Val)	not specified [RCV004337184]	uncertain significance	15	41871804	41871804	Human		name
401884155	CV2765068	single nucleotide variant	NM_016642.4(SPTBN5):c.9292G>A (p.Gly3098Arg)	not specified [RCV004337185]	uncertain significance	15	41855355	41855355	Human		name
401877103	CV2769337	single nucleotide variant	NM_016642.4(SPTBN5):c.8759A>C (p.Asp2920Ala)	not specified [RCV004357333]	uncertain significance	15	41856902	41856902	Human		name
401862903	CV2779069	single nucleotide variant	NM_016642.4(SPTBN5):c.6883C>T (p.Arg2295Trp)	not specified [RCV004348706]	uncertain significance	15	41865843	41865843	Human		name
401864307	CV2781656	single nucleotide variant	NM_016642.4(SPTBN5):c.4397G>C (p.Ser1466Thr)	not specified [RCV004354856]	uncertain significance	15	41874947	41874947	Human		name
401882837	CV2788614	single nucleotide variant	NM_016642.4(SPTBN5):c.3589T>C (p.Trp1197Arg)	not specified [RCV004361106]	uncertain significance	15	41877238	41877238	Human		name
401880781	CV2789378	single nucleotide variant	NM_016642.4(SPTBN5):c.7707G>T (p.Gln2569His)	not specified [RCV004365691]	uncertain significance	15	41861765	41861765	Human		name
401894998	CV2792665	single nucleotide variant	NM_016642.4(SPTBN5):c.4754G>A (p.Ser1585Asn)	not specified [RCV004365450]	uncertain significance	15	41873981	41873981	Human		name
401920496	CV2796521	single nucleotide variant	NM_016642.4(SPTBN5):c.7642C>G (p.Arg2548Gly)	SPTBN5-related disorder [RCV003402557]	uncertain significance	15	41861830	41861830	Human		name , trait , alternate_id
401934306	CV2817449	single nucleotide variant	NM_016642.4(SPTBN5):c.9856C>T (p.Pro3286Ser)	not provided [RCV003411169]	likely benign	15	41853706	41853706	Human		name
401916082	CV2817451	single nucleotide variant	NM_016642.4(SPTBN5):c.9281C>T (p.Ala3094Val)	not provided [RCV003400880]\|not specified [RCV004364525]	likely benign	15	41855366	41855366	Human		name
401916089	CV2817453	single nucleotide variant	NM_016642.4(SPTBN5):c.9052C>T (p.Arg3018Trp)	not provided [RCV003400882]\|not specified [RCV004364526]	likely benign\|uncertain significance	15	41855715	41855715	Human		name
401916108	CV2817463	single nucleotide variant	NM_016642.4(SPTBN5):c.5653C>G (p.Leu1885Val)	not provided [RCV003400889]	likely benign	15	41870263	41870263	Human		name
401916125	CV2817469	single nucleotide variant	NM_016642.4(SPTBN5):c.3803G>A (p.Arg1268Gln)	not provided [RCV003400895]	benign	15	41876857	41876857	Human		name
401943603	CV2840105	single nucleotide variant	NM_016642.4(SPTBN5):c.7643G>A (p.Arg2548His)	not provided [RCV003456892]	likely benign	15	41861829	41861829	Human		name
405292595	CV3196593	single nucleotide variant	NM_016642.4(SPTBN5):c.8887G>A (p.Gly2963Arg)	SPTBN5-related disorder [RCV003964578]\|not specified [RCV005281525]	likely benign\|uncertain significance	15	41856520	41856520	Human		name , trait , alternate_id
405290782	CV3197152	single nucleotide variant	NM_016642.4(SPTBN5):c.3157C>T (p.His1053Tyr)	SPTBN5-related disorder [RCV003984714]	benign	15	41879285	41879285	Human		name , trait , alternate_id
405277156	CV3198772	single nucleotide variant	NM_016642.4(SPTBN5):c.6328G>A (p.Glu2110Lys)	SPTBN5-related disorder [RCV003904096]	benign	15	41867111	41867111	Human		name , trait , alternate_id
405285969	CV3209807	single nucleotide variant	NM_016642.4(SPTBN5):c.7219G>A (p.Glu2407Lys)	SPTBN5-related disorder [RCV003959354]	likely benign	15	41862834	41862834	Human		name , trait , alternate_id
405294489	CV3211491	single nucleotide variant	NM_016642.4(SPTBN5):c.7126G>A (p.Val2376Ile)	SPTBN5-related disorder [RCV003934387]\|not specified [RCV004674005]	likely benign	15	41863727	41863727	Human		name , trait , alternate_id
405294719	CV3211781	single nucleotide variant	NM_016642.4(SPTBN5):c.7516C>T (p.Arg2506Trp)	SPTBN5-related disorder [RCV003934669]	likely benign	15	41862162	41862162	Human		name , trait , alternate_id
405282866	CV3216890	single nucleotide variant	NM_016642.4(SPTBN5):c.8885C>T (p.Ala2962Val)	SPTBN5-related disorder [RCV003979055]	uncertain significance	15	41856522	41856522	Human		name , trait , alternate_id
405286102	CV3218660	single nucleotide variant	NM_016642.4(SPTBN5):c.4955G>A (p.Arg1652Gln)	SPTBN5-related disorder [RCV003959390]\|not specified [RCV004369866]	likely benign	15	41873544	41873544	Human		name , trait , alternate_id
405271121	CV3218906	single nucleotide variant	NM_016642.4(SPTBN5):c.3784C>A (p.Pro1262Thr)	SPTBN5-related disorder [RCV003971648]	likely benign	15	41876876	41876876	Human		name , trait , alternate_id
405289919	CV3218924	single nucleotide variant	NM_016642.4(SPTBN5):c.5503G>A (p.Asp1835Asn)	SPTBN5-related disorder [RCV003962017]	likely benign	15	41870505	41870505	Human		name , trait , alternate_id
405777580	CV3330318	single nucleotide variant	NM_016642.4(SPTBN5):c.9257C>T (p.Ala3086Val)	not specified [RCV004458086]	uncertain significance	15	41855390	41855390	Human		name
405777590	CV3330320	single nucleotide variant	NM_016642.4(SPTBN5):c.9281C>A (p.Ala3094Glu)	not specified [RCV004458088]	uncertain significance	15	41855366	41855366	Human		name
405777597	CV3330321	single nucleotide variant	NM_016642.4(SPTBN5):c.9295C>T (p.His3099Tyr)	not specified [RCV004458089]	uncertain significance	15	41855352	41855352	Human		name
405777603	CV3330322	single nucleotide variant	NM_016642.4(SPTBN5):c.9337G>A (p.Glu3113Lys)	not specified [RCV004458090]	uncertain significance	15	41855310	41855310	Human		name
405777609	CV3330323	single nucleotide variant	NM_016642.4(SPTBN5):c.9339G>C (p.Glu3113Asp)	not specified [RCV004458091]	uncertain significance	15	41855308	41855308	Human		name
405777613	CV3330324	single nucleotide variant	NM_016642.4(SPTBN5):c.9385G>A (p.Glu3129Lys)	not specified [RCV004458092]	uncertain significance	15	41855262	41855262	Human		name
405777618	CV3330325	single nucleotide variant	NM_016642.4(SPTBN5):c.9425T>A (p.Val3142Glu)	not specified [RCV004458093]	uncertain significance	15	41854975	41854975	Human		name
405777636	CV3330328	single nucleotide variant	NM_016642.4(SPTBN5):c.9745A>C (p.Thr3249Pro)	not specified [RCV004458096]	uncertain significance	15	41854079	41854079	Human		name
405777641	CV3330329	single nucleotide variant	NM_016642.4(SPTBN5):c.9787G>T (p.Ala3263Ser)	not specified [RCV004458097]	uncertain significance	15	41853775	41853775	Human		name
405777647	CV3330330	single nucleotide variant	NM_016642.4(SPTBN5):c.9830G>A (p.Arg3277Gln)	not specified [RCV004458098]	uncertain significance	15	41853732	41853732	Human		name
405777166	CV3334136	single nucleotide variant	NM_016642.4(SPTBN5):c.3050G>A (p.Arg1017Gln)	not specified [RCV004458016]	likely benign	15	41879392	41879392	Human		name
405777171	CV3334137	single nucleotide variant	NM_016642.4(SPTBN5):c.3202G>A (p.Ala1068Thr)	not specified [RCV004458017]	likely benign	15	41878610	41878610	Human		name
405777177	CV3334138	single nucleotide variant	NM_016642.4(SPTBN5):c.3281G>A (p.Arg1094Gln)	not specified [RCV004458018]	likely benign	15	41878531	41878531	Human		name
405777183	CV3334139	single nucleotide variant	NM_016642.4(SPTBN5):c.3461G>C (p.Trp1154Ser)	not specified [RCV004458019]	uncertain significance	15	41878351	41878351	Human		name
405777206	CV3334143	single nucleotide variant	NM_016642.4(SPTBN5):c.3935C>T (p.Ala1312Val)	not specified [RCV004458023]	uncertain significance	15	41876564	41876564	Human		name
405777210	CV3334144	single nucleotide variant	NM_016642.4(SPTBN5):c.4031C>T (p.Ala1344Val)	not specified [RCV004458024]	uncertain significance	15	41876205	41876205	Human		name
405777214	CV3334145	single nucleotide variant	NM_016642.4(SPTBN5):c.4395G>T (p.Glu1465Asp)	not specified [RCV004458025]	uncertain significance	15	41874949	41874949	Human		name
405777221	CV3334146	single nucleotide variant	NM_016642.4(SPTBN5):c.4396A>T (p.Ser1466Cys)	not specified [RCV004458026]	uncertain significance	15	41874948	41874948	Human		name
405777227	CV3334147	single nucleotide variant	NM_016642.4(SPTBN5):c.4904T>C (p.Val1635Ala)	not specified [RCV004458027]	likely benign	15	41873595	41873595	Human		name
405777233	CV3334148	single nucleotide variant	NM_016642.4(SPTBN5):c.4984C>A (p.Leu1662Ile)	not specified [RCV004458028]	uncertain significance	15	41873515	41873515	Human		name
405777240	CV3334149	single nucleotide variant	NM_016642.4(SPTBN5):c.5116G>A (p.Glu1706Lys)	not specified [RCV004458029]	uncertain significance	15	41872351	41872351	Human		name
405777253	CV3334151	single nucleotide variant	NM_016642.4(SPTBN5):c.5336A>T (p.Gln1779Leu)	not specified [RCV004458031]	uncertain significance	15	41871486	41871486	Human		name
405777259	CV3334152	single nucleotide variant	NM_016642.4(SPTBN5):c.5343G>C (p.Glu1781Asp)	not specified [RCV004458032]	uncertain significance	15	41871479	41871479	Human		name
405777262	CV3334153	single nucleotide variant	NM_016642.4(SPTBN5):c.5346G>A (p.Met1782Ile)	not specified [RCV004458033]	uncertain significance	15	41871476	41871476	Human		name
405777269	CV3334154	single nucleotide variant	NM_016642.4(SPTBN5):c.5357G>A (p.Arg1786Gln)	not specified [RCV004458034]	uncertain significance	15	41871465	41871465	Human		name
405777274	CV3334155	single nucleotide variant	NM_016642.4(SPTBN5):c.5420T>G (p.Met1807Arg)	not specified [RCV004458035]	uncertain significance	15	41871402	41871402	Human		name
405777280	CV3334156	single nucleotide variant	NM_016642.4(SPTBN5):c.5495C>T (p.Ala1832Val)	not specified [RCV004458036]	uncertain significance	15	41870513	41870513	Human		name
405777293	CV3334158	single nucleotide variant	NM_016642.4(SPTBN5):c.5618C>T (p.Ala1873Val)	not specified [RCV004458038]	uncertain significance	15	41870298	41870298	Human		name
405777298	CV3334159	single nucleotide variant	NM_016642.4(SPTBN5):c.5804G>A (p.Arg1935His)	not specified [RCV004458039]	uncertain significance	15	41869890	41869890	Human		name
405777309	CV3334161	single nucleotide variant	NM_016642.4(SPTBN5):c.5827C>T (p.Arg1943Cys)	not specified [RCV004458041]	likely benign	15	41869867	41869867	Human		name
405777315	CV3334162	single nucleotide variant	NM_016642.4(SPTBN5):c.5966G>C (p.Arg1989Pro)	not specified [RCV004458042]	uncertain significance	15	41868489	41868489	Human		name
405777321	CV3334163	single nucleotide variant	NM_016642.4(SPTBN5):c.5983C>T (p.Arg1995Trp)	not specified [RCV004458043]	uncertain significance	15	41868472	41868472	Human		name
405777327	CV3334164	single nucleotide variant	NM_016642.4(SPTBN5):c.5984G>A (p.Arg1995Gln)	not specified [RCV004458044]	likely benign	15	41868471	41868471	Human		name
405777343	CV3334167	single nucleotide variant	NM_016642.4(SPTBN5):c.6208G>A (p.Val2070Ile)	not specified [RCV004458047]	uncertain significance	15	41867642	41867642	Human		name
405777350	CV3334168	single nucleotide variant	NM_016642.4(SPTBN5):c.6472G>T (p.Ala2158Ser)	not specified [RCV004458048]	uncertain significance	15	41866967	41866967	Human		name
405777356	CV3334169	single nucleotide variant	NM_016642.4(SPTBN5):c.6505G>A (p.Ala2169Thr)	not specified [RCV004458049]	uncertain significance	15	41866469	41866469	Human		name
405777363	CV3334170	single nucleotide variant	NM_016642.4(SPTBN5):c.6536G>C (p.Gly2179Ala)	not specified [RCV004458050]	uncertain significance	15	41866438	41866438	Human		name
405777369	CV3334171	single nucleotide variant	NM_016642.4(SPTBN5):c.6670G>A (p.Gly2224Arg)	not specified [RCV004458051]	uncertain significance	15	41866190	41866190	Human		name
405777375	CV3334172	single nucleotide variant	NM_016642.4(SPTBN5):c.6742G>T (p.Gly2248Cys)	not specified [RCV004458052]	uncertain significance	15	41866118	41866118	Human		name
405777381	CV3334173	single nucleotide variant	NM_016642.4(SPTBN5):c.6763C>G (p.Arg2255Gly)	not specified [RCV004458053]	uncertain significance	15	41866097	41866097	Human		name
405777387	CV3334174	single nucleotide variant	NM_016642.4(SPTBN5):c.6767A>G (p.Asn2256Ser)	not specified [RCV004458054]	uncertain significance	15	41866093	41866093	Human		name
405777394	CV3334175	single nucleotide variant	NM_016642.4(SPTBN5):c.6911C>T (p.Ser2304Leu)	not specified [RCV004458055]	uncertain significance	15	41865815	41865815	Human		name
405777400	CV3334176	single nucleotide variant	NM_016642.4(SPTBN5):c.6923C>T (p.Thr2308Ile)	not specified [RCV004458056]	uncertain significance	15	41864020	41864020	Human		name
405777407	CV3334177	single nucleotide variant	NM_016642.4(SPTBN5):c.6993A>T (p.Glu2331Asp)	not specified [RCV004458057]	uncertain significance	15	41863950	41863950	Human		name
405777414	CV3334178	single nucleotide variant	NM_016642.4(SPTBN5):c.7013G>A (p.Arg2338Gln)	not specified [RCV004458058]	uncertain significance	15	41863930	41863930	Human		name
405777420	CV3334179	single nucleotide variant	NM_016642.4(SPTBN5):c.7195G>T (p.Val2399Leu)	not specified [RCV004458059]	uncertain significance	15	41862858	41862858	Human		name
405777427	CV3334180	single nucleotide variant	NM_016642.4(SPTBN5):c.7297A>G (p.Arg2433Gly)	not specified [RCV004458060]	uncertain significance	15	41862627	41862627	Human		name
405777433	CV3334181	single nucleotide variant	NM_016642.4(SPTBN5):c.7303C>T (p.Pro2435Ser)	not specified [RCV004458061]	uncertain significance	15	41862621	41862621	Human		name
405777439	CV3334182	single nucleotide variant	NM_016642.4(SPTBN5):c.7394C>T (p.Ala2465Val)	not specified [RCV004458062]	uncertain significance	15	41862284	41862284	Human		name
405777446	CV3334183	single nucleotide variant	NM_016642.4(SPTBN5):c.7616C>T (p.Ala2539Val)	not specified [RCV004458063]	uncertain significance	15	41861856	41861856	Human		name
405777458	CV3334185	single nucleotide variant	NM_016642.4(SPTBN5):c.8020C>T (p.Arg2674Cys)	not specified [RCV004458065]	uncertain significance	15	41858949	41858949	Human		name
405777463	CV3334186	single nucleotide variant	NM_016642.4(SPTBN5):c.8068G>C (p.Asp2690His)	not specified [RCV004458066]	uncertain significance	15	41858901	41858901	Human		name
405777476	CV3334188	single nucleotide variant	NM_016642.4(SPTBN5):c.8080G>T (p.Val2694Leu)	not specified [RCV004458068]	uncertain significance	15	41858748	41858748	Human		name
405777488	CV3334190	single nucleotide variant	NM_016642.4(SPTBN5):c.8372G>A (p.Arg2791His)	not specified [RCV004458070]	likely benign	15	41857487	41857487	Human		name
405777494	CV3334191	single nucleotide variant	NM_016642.4(SPTBN5):c.8450A>C (p.Gln2817Pro)	not specified [RCV004458071]	uncertain significance	15	41857409	41857409	Human		name
405777500	CV3334192	single nucleotide variant	NM_016642.4(SPTBN5):c.8606G>A (p.Arg2869Gln)	not specified [RCV004458072]	likely benign	15	41857253	41857253	Human		name
405777505	CV3334193	single nucleotide variant	NM_016642.4(SPTBN5):c.8654G>A (p.Arg2885His)	not specified [RCV004458073]	uncertain significance	15	41857007	41857007	Human		name
405777511	CV3334194	single nucleotide variant	NM_016642.4(SPTBN5):c.8758G>A (p.Asp2920Asn)	not specified [RCV004458074]	uncertain significance	15	41856903	41856903	Human		name
405777517	CV3334195	single nucleotide variant	NM_016642.4(SPTBN5):c.8769G>C (p.Gln2923His)	not specified [RCV004458075]	uncertain significance	15	41856892	41856892	Human		name
405777522	CV3334196	single nucleotide variant	NM_016642.4(SPTBN5):c.8836G>A (p.Glu2946Lys)	not specified [RCV004458076]	uncertain significance	15	41856571	41856571	Human		name
405777528	CV3334197	single nucleotide variant	NM_016642.4(SPTBN5):c.8848C>T (p.Arg2950Trp)	not specified [RCV004458077]	uncertain significance	15	41856559	41856559	Human		name
405777534	CV3334198	single nucleotide variant	NM_016642.4(SPTBN5):c.8904C>G (p.His2968Gln)	not specified [RCV004458078]	uncertain significance	15	41856503	41856503	Human		name
405777540	CV3334199	single nucleotide variant	NM_016642.4(SPTBN5):c.8905G>A (p.Glu2969Lys)	not specified [RCV004458079]	uncertain significance	15	41856502	41856502	Human		name
405777546	CV3334200	single nucleotide variant	NM_016642.4(SPTBN5):c.8953C>T (p.Arg2985Trp)	not specified [RCV004458080]	uncertain significance	15	41856454	41856454	Human		name
405777552	CV3334201	single nucleotide variant	NM_016642.4(SPTBN5):c.8966C>T (p.Ala2989Val)	not specified [RCV004458081]	uncertain significance	15	41856441	41856441	Human		name
405777562	CV3334203	single nucleotide variant	NM_016642.4(SPTBN5):c.9094G>A (p.Glu3032Lys)	not specified [RCV004458083]	uncertain significance	15	41855673	41855673	Human		name
405777574	CV3334205	single nucleotide variant	NM_016642.4(SPTBN5):c.9251G>A (p.Arg3084Gln)	not specified [RCV004458085]	uncertain significance	15	41855396	41855396	Human		name
407516205	CV3478117	single nucleotide variant	NM_016642.4(SPTBN5):c.3115C>A (p.Gln1039Lys)	not specified [RCV004675237]	uncertain significance	15	41879327	41879327	Human		name
407516211	CV3478119	single nucleotide variant	NM_016642.4(SPTBN5):c.6893G>A (p.Arg2298His)	not specified [RCV004675239]	uncertain significance	15	41865833	41865833	Human		name
407516559	CV3478121	single nucleotide variant	NM_016642.4(SPTBN5):c.3286C>T (p.Arg1096Trp)	not specified [RCV004675241]	uncertain significance	15	41878526	41878526	Human		name
407516219	CV3478122	single nucleotide variant	NM_016642.4(SPTBN5):c.5138G>A (p.Arg1713Gln)	not specified [RCV004675242]	likely benign	15	41872329	41872329	Human		name
407516222	CV3478123	single nucleotide variant	NM_016642.4(SPTBN5):c.8660C>T (p.Thr2887Met)	not specified [RCV004675243]	likely benign	15	41857001	41857001	Human		name
407516225	CV3478124	single nucleotide variant	NM_016642.4(SPTBN5):c.4268A>C (p.Gln1423Pro)	not specified [RCV004675244]	uncertain significance	15	41875477	41875477	Human		name
407516228	CV3478125	single nucleotide variant	NM_016642.4(SPTBN5):c.6886C>T (p.Arg2296Trp)	not specified [RCV004675245]	uncertain significance	15	41865840	41865840	Human		name
407516231	CV3478126	single nucleotide variant	NM_016642.4(SPTBN5):c.6392G>A (p.Arg2131Gln)	not specified [RCV004675246]	uncertain significance	15	41867047	41867047	Human		name
407525797	CV3478127	single nucleotide variant	NM_016642.4(SPTBN5):c.6368G>A (p.Arg2123Gln)	not specified [RCV004679431]	uncertain significance	15	41867071	41867071	Human		name
407516234	CV3478128	single nucleotide variant	NM_016642.4(SPTBN5):c.5105G>A (p.Arg1702His)	not specified [RCV004675247]	uncertain significance	15	41872362	41872362	Human		name
407525801	CV3478130	single nucleotide variant	NM_016642.4(SPTBN5):c.9161G>A (p.Arg3054His)	not specified [RCV004679432]	uncertain significance	15	41855606	41855606	Human		name
407516240	CV3478132	single nucleotide variant	NM_016642.4(SPTBN5):c.9382G>A (p.Ala3128Thr)	not specified [RCV004675249]	uncertain significance	15	41855265	41855265	Human		name
407516243	CV3478133	single nucleotide variant	NM_016642.4(SPTBN5):c.5936C>T (p.Pro1979Leu)	not specified [RCV004675250]	likely benign	15	41868519	41868519	Human		name
407516246	CV3478134	single nucleotide variant	NM_016642.4(SPTBN5):c.7808G>T (p.Gly2603Val)	not specified [RCV004675251]	uncertain significance	15	41861426	41861426	Human		name
407516252	CV3478137	single nucleotide variant	NM_016642.4(SPTBN5):c.4027G>A (p.Gly1343Arg)	not specified [RCV004675253]	likely benign	15	41876209	41876209	Human		name
407525809	CV3478139	single nucleotide variant	NM_016642.4(SPTBN5):c.9610C>T (p.Arg3204Cys)	not specified [RCV004679435]	uncertain significance	15	41854790	41854790	Human		name
407516258	CV3478140	single nucleotide variant	NM_016642.4(SPTBN5):c.8247G>C (p.Gln2749His)	not specified [RCV004675255]	uncertain significance	15	41857690	41857690	Human		name
407516261	CV3478141	single nucleotide variant	NM_016642.4(SPTBN5):c.6359T>C (p.Val2120Ala)	not specified [RCV004675256]	uncertain significance	15	41867080	41867080	Human		name
407516263	CV3478142	single nucleotide variant	NM_016642.4(SPTBN5):c.7456G>A (p.Ala2486Thr)	not specified [RCV004675257]	uncertain significance	15	41862222	41862222	Human		name
407516272	CV3478145	single nucleotide variant	NM_016642.4(SPTBN5):c.8968C>T (p.Arg2990Trp)	not specified [RCV004675260]	uncertain significance	15	41856439	41856439	Human		name
407525815	CV3478147	single nucleotide variant	NM_016642.4(SPTBN5):c.3485A>C (p.Asp1162Ala)	not specified [RCV004679437]	uncertain significance	15	41877342	41877342	Human		name
407516274	CV3478148	single nucleotide variant	NM_016642.4(SPTBN5):c.3821T>A (p.Leu1274Gln)	not specified [RCV004675261]	uncertain significance	15	41876839	41876839	Human		name
407516277	CV3478150	single nucleotide variant	NM_016642.4(SPTBN5):c.5945T>C (p.Leu1982Pro)	not specified [RCV004675262]	uncertain significance	15	41868510	41868510	Human		name
407516280	CV3478151	single nucleotide variant	NM_016642.4(SPTBN5):c.6239C>T (p.Ser2080Leu)	not specified [RCV004675263]	uncertain significance	15	41867611	41867611	Human		name
407525821	CV3478152	single nucleotide variant	NM_016642.4(SPTBN5):c.7124A>G (p.Asn2375Ser)	not specified [RCV004679439]	likely benign	15	41863729	41863729	Human		name
407525824	CV3478153	single nucleotide variant	NM_016642.4(SPTBN5):c.7479G>A (p.Met2493Ile)	not specified [RCV004679440]	uncertain significance	15	41862199	41862199	Human		name
407516282	CV3478155	single nucleotide variant	NM_016642.4(SPTBN5):c.8907G>C (p.Glu2969Asp)	not specified [RCV004675264]	uncertain significance	15	41856500	41856500	Human		name
407516285	CV3478157	single nucleotide variant	NM_016642.4(SPTBN5):c.9124G>A (p.Glu3042Lys)	not specified [RCV004675265]	uncertain significance	15	41855643	41855643	Human		name
407516288	CV3478158	single nucleotide variant	NM_016642.4(SPTBN5):c.6620C>T (p.Ser2207Phe)	not specified [RCV004675266]	uncertain significance	15	41866354	41866354	Human		name
407516291	CV3478159	single nucleotide variant	NM_016642.4(SPTBN5):c.9835G>A (p.Gly3279Ser)	not specified [RCV004675267]	uncertain significance	15	41853727	41853727	Human		name
407516294	CV3478160	single nucleotide variant	NM_016642.4(SPTBN5):c.7075C>A (p.Gln2359Lys)	not specified [RCV004675268]	uncertain significance	15	41863778	41863778	Human		name
407525833	CV3478161	single nucleotide variant	NM_016642.4(SPTBN5):c.6596A>G (p.Gln2199Arg)	not specified [RCV004679443]	uncertain significance	15	41866378	41866378	Human		name
407525836	CV3478162	single nucleotide variant	NM_016642.4(SPTBN5):c.8993C>T (p.Ala2998Val)	not specified [RCV004679444]	uncertain significance	15	41856414	41856414	Human		name
407525839	CV3478163	single nucleotide variant	NM_016642.4(SPTBN5):c.8416A>G (p.Ile2806Val)	not specified [RCV004679445]	likely benign	15	41857443	41857443	Human		name
407516300	CV3478165	single nucleotide variant	NM_016642.4(SPTBN5):c.4060C>T (p.Arg1354Trp)	not specified [RCV004675270]	likely benign	15	41876176	41876176	Human		name
407516306	CV3478167	single nucleotide variant	NM_016642.4(SPTBN5):c.6994G>A (p.Val2332Ile)	not specified [RCV004675272]	uncertain significance	15	41863949	41863949	Human		name
407525841	CV3478168	single nucleotide variant	NM_016642.4(SPTBN5):c.8273T>C (p.Ile2758Thr)	not specified [RCV004679446]	uncertain significance	15	41857664	41857664	Human		name
408377701	CV3500811	single nucleotide variant	NM_016642.4(SPTBN5):c.7815G>A (p.Trp2605Ter)	not provided [RCV004722461]	benign	15	41861419	41861419	Human		name
597679917	CV3604183	single nucleotide variant	NM_016642.4(SPTBN5):c.3039G>T (p.Gln1013His)	not specified [RCV004857336]	uncertain significance	15	41879403	41879403	Human		name
597778288	CV3604184	single nucleotide variant	NM_016642.4(SPTBN5):c.9250C>T (p.Arg3084Trp)	not specified [RCV004873247]	uncertain significance	15	41855397	41855397	Human		name
597679925	CV3604185	single nucleotide variant	NM_016642.4(SPTBN5):c.4438T>C (p.Ser1480Pro)	not specified [RCV004857337]	uncertain significance	15	41874906	41874906	Human		name
597778292	CV3604186	single nucleotide variant	NM_016642.4(SPTBN5):c.4379G>A (p.Arg1460Gln)	not specified [RCV004873248]	likely benign	15	41874965	41874965	Human		name
597679932	CV3604187	single nucleotide variant	NM_016642.4(SPTBN5):c.4840G>A (p.Ala1614Thr)	not specified [RCV004857338]	uncertain significance	15	41873895	41873895	Human		name
597679941	CV3604189	single nucleotide variant	NM_016642.4(SPTBN5):c.8380C>T (p.Arg2794Trp)	not specified [RCV004857339]	uncertain significance	15	41857479	41857479	Human		name
597778301	CV3604191	single nucleotide variant	NM_016642.4(SPTBN5):c.7916C>T (p.Ala2639Val)	not specified [RCV004873250]	uncertain significance	15	41860658	41860658	Human		name
597778309	CV3604194	single nucleotide variant	NM_016642.4(SPTBN5):c.9796A>G (p.Lys3266Glu)	not specified [RCV004873252]	uncertain significance	15	41853766	41853766	Human		name
597778312	CV3604196	single nucleotide variant	NM_016642.4(SPTBN5):c.8030G>A (p.Arg2677His)	not specified [RCV004873253]	uncertain significance	15	41858939	41858939	Human		name
597679970	CV3604197	single nucleotide variant	NM_016642.4(SPTBN5):c.5803C>G (p.Arg1935Gly)	not specified [RCV004857343]	uncertain significance	15	41869891	41869891	Human		name
597778316	CV3604198	single nucleotide variant	NM_016642.4(SPTBN5):c.8087C>T (p.Ala2696Val)	not specified [RCV004873254]	uncertain significance	15	41858741	41858741	Human		name
597778324	CV3604201	single nucleotide variant	NM_016642.4(SPTBN5):c.8899G>A (p.Ala2967Thr)	not specified [RCV004873256]	uncertain significance	15	41856508	41856508	Human		name
597778328	CV3604202	single nucleotide variant	NM_016642.4(SPTBN5):c.8963C>T (p.Ala2988Val)	not specified [RCV004873257]	uncertain significance	15	41856444	41856444	Human		name
597778332	CV3604203	single nucleotide variant	NM_016642.4(SPTBN5):c.3857G>A (p.Arg1286Lys)	not specified [RCV004873258]	uncertain significance	15	41876642	41876642	Human		name
597778336	CV3604204	single nucleotide variant	NM_016642.4(SPTBN5):c.5005C>G (p.Gln1669Glu)	not specified [RCV004873259]	uncertain significance	15	41873494	41873494	Human		name
597778342	CV3604205	single nucleotide variant	NM_016642.4(SPTBN5):c.9298G>A (p.Gly3100Ser)	not specified [RCV004873260]	uncertain significance	15	41855349	41855349	Human		name
597778345	CV3604206	single nucleotide variant	NM_016642.4(SPTBN5):c.9809G>A (p.Arg3270Gln)	not specified [RCV004873261]	uncertain significance	15	41853753	41853753	Human		name
597679986	CV3604207	single nucleotide variant	NM_016642.4(SPTBN5):c.7552G>A (p.Glu2518Lys)	not specified [RCV004857345]	uncertain significance	15	41861920	41861920	Human		name
597778353	CV3604209	single nucleotide variant	NM_016642.4(SPTBN5):c.5104C>T (p.Arg1702Cys)	not specified [RCV004873263]	uncertain significance	15	41872363	41872363	Human		name
597778361	CV3604211	single nucleotide variant	NM_016642.4(SPTBN5):c.6413C>T (p.Ala2138Val)	not specified [RCV004873265]	uncertain significance	15	41867026	41867026	Human		name
597679996	CV3604212	single nucleotide variant	NM_016642.4(SPTBN5):c.9506C>T (p.Ala3169Val)	not specified [RCV004857346]	uncertain significance	15	41854894	41854894	Human		name
597680010	CV3604215	single nucleotide variant	NM_016642.4(SPTBN5):c.6560C>A (p.Pro2187His)	not specified [RCV004857348]	likely benign	15	41866414	41866414	Human		name
597680016	CV3604216	single nucleotide variant	NM_016642.4(SPTBN5):c.9061G>A (p.Val3021Ile)	not specified [RCV004857349]	uncertain significance	15	41855706	41855706	Human		name
597778371	CV3604218	single nucleotide variant	NM_016642.4(SPTBN5):c.8974C>T (p.Arg2992Trp)	not specified [RCV004873268]	uncertain significance	15	41856433	41856433	Human		name
597778375	CV3604219	single nucleotide variant	NM_016642.4(SPTBN5):c.8605C>T (p.Arg2869Trp)	not specified [RCV004873269]	uncertain significance	15	41857254	41857254	Human		name
597680023	CV3604220	single nucleotide variant	NM_016642.4(SPTBN5):c.7919G>A (p.Arg2640His)	not specified [RCV004857350]	likely benign	15	41860655	41860655	Human		name
597680032	CV3604221	single nucleotide variant	NM_016642.4(SPTBN5):c.9718G>A (p.Gly3240Arg)	not specified [RCV004857351]	uncertain significance	15	41854106	41854106	Human		name
597778379	CV3604223	single nucleotide variant	NM_016642.4(SPTBN5):c.8975G>A (p.Arg2992Gln)	not specified [RCV004873270]	uncertain significance	15	41856432	41856432	Human		name
597778383	CV3604224	single nucleotide variant	NM_016642.4(SPTBN5):c.6895G>A (p.Glu2299Lys)	not specified [RCV004873271]	likely benign	15	41865831	41865831	Human		name
597680047	CV3604225	single nucleotide variant	NM_016642.4(SPTBN5):c.9818C>T (p.Thr3273Met)	not specified [RCV004857353]	likely benign	15	41853744	41853744	Human		name
597778395	CV3604228	single nucleotide variant	NM_016642.4(SPTBN5):c.7519C>T (p.Arg2507Cys)	not specified [RCV004873274]	uncertain significance	15	41862159	41862159	Human		name
597778403	CV3604230	single nucleotide variant	NM_016642.4(SPTBN5):c.3347T>C (p.Leu1116Pro)	not specified [RCV004873276]	uncertain significance	15	41878465	41878465	Human		name
597778407	CV3604231	single nucleotide variant	NM_016642.4(SPTBN5):c.3407C>T (p.Ser1136Leu)	not specified [RCV004873277]	uncertain significance	15	41878405	41878405	Human		name
597680057	CV3604232	single nucleotide variant	NM_016642.4(SPTBN5):c.6473C>A (p.Ala2158Glu)	not specified [RCV004857354]	uncertain significance	15	41866966	41866966	Human		name
597778410	CV3604234	single nucleotide variant	NM_016642.4(SPTBN5):c.9743G>A (p.Arg3248Gln)	not specified [RCV004873278]	likely benign	15	41854081	41854081	Human		name
597778422	CV3604237	single nucleotide variant	NM_016642.4(SPTBN5):c.4712C>G (p.Ala1571Gly)	not specified [RCV004873281]	uncertain significance	15	41874023	41874023	Human		name
597680073	CV3604238	single nucleotide variant	NM_016642.4(SPTBN5):c.4795G>A (p.Glu1599Lys)	not specified [RCV004857356]	uncertain significance	15	41873940	41873940	Human		name
597778426	CV3604239	single nucleotide variant	NM_016642.4(SPTBN5):c.5881C>T (p.Arg1961Cys)	not specified [RCV004873282]	uncertain significance	15	41868574	41868574	Human		name
597778430	CV3604240	single nucleotide variant	NM_016642.4(SPTBN5):c.5171G>A (p.Arg1724Gln)	not specified [RCV004873283]	likely benign	15	41871912	41871912	Human		name
597778434	CV3604241	single nucleotide variant	NM_016642.4(SPTBN5):c.9354C>A (p.Asp3118Glu)	not specified [RCV004873284]	uncertain significance	15	41855293	41855293	Human		name
597680081	CV3604242	single nucleotide variant	NM_016642.4(SPTBN5):c.4959C>G (p.Asp1653Glu)	not specified [RCV004857357]	uncertain significance	15	41873540	41873540	Human		name
597778438	CV3604243	single nucleotide variant	NM_016642.4(SPTBN5):c.6940A>C (p.Ile2314Leu)	not specified [RCV004873285]	uncertain significance	15	41864003	41864003	Human		name
597778442	CV3604244	single nucleotide variant	NM_016642.4(SPTBN5):c.6932A>T (p.Asp2311Val)	not specified [RCV004873286]	uncertain significance	15	41864011	41864011	Human		name
597778446	CV3604247	single nucleotide variant	NM_016642.4(SPTBN5):c.8464G>T (p.Val2822Leu)	not specified [RCV004873287]	likely benign	15	41857395	41857395	Human		name
597778449	CV3604248	single nucleotide variant	NM_016642.4(SPTBN5):c.5012T>C (p.Leu1671Pro)	not specified [RCV004873288]	uncertain significance	15	41872455	41872455	Human		name
597778456	CV3604250	single nucleotide variant	NM_016642.4(SPTBN5):c.5035T>C (p.Trp1679Arg)	not specified [RCV004873290]	uncertain significance	15	41872432	41872432	Human		name
597680105	CV3604251	single nucleotide variant	NM_016642.4(SPTBN5):c.7948G>A (p.Ala2650Thr)	not specified [RCV004857360]	uncertain significance	15	41860626	41860626	Human		name
597778462	CV3604252	single nucleotide variant	NM_016642.4(SPTBN5):c.6343C>G (p.Leu2115Val)	not specified [RCV004873291]	uncertain significance	15	41867096	41867096	Human		name
597680114	CV3604253	single nucleotide variant	NM_016642.4(SPTBN5):c.6489C>G (p.Asp2163Glu)	not specified [RCV004857361]	uncertain significance	15	41866485	41866485	Human		name
597778464	CV3604254	single nucleotide variant	NM_016642.4(SPTBN5):c.3197G>A (p.Gly1066Asp)	not specified [RCV004873292]	uncertain significance	15	41878615	41878615	Human		name
597778468	CV3604255	single nucleotide variant	NM_016642.4(SPTBN5):c.8785C>T (p.Arg2929Trp)	not specified [RCV004873293]	uncertain significance	15	41856876	41856876	Human		name
597680139	CV3604258	single nucleotide variant	NM_016642.4(SPTBN5):c.4760C>A (p.Ala1587Glu)	not specified [RCV004857364]	uncertain significance	15	41873975	41873975	Human		name
597778472	CV3604259	single nucleotide variant	NM_016642.4(SPTBN5):c.6748G>A (p.Glu2250Lys)	not specified [RCV004873294]	uncertain significance	15	41866112	41866112	Human		name
597778476	CV3604260	single nucleotide variant	NM_016642.4(SPTBN5):c.8231G>C (p.Gly2744Ala)	not specified [RCV004873295]	uncertain significance	15	41857706	41857706	Human		name
597778480	CV3604261	single nucleotide variant	NM_016642.4(SPTBN5):c.5981C>T (p.Ala1994Val)	not specified [RCV004873296]	uncertain significance	15	41868474	41868474	Human		name
597778487	CV3604263	single nucleotide variant	NM_016642.4(SPTBN5):c.9640G>A (p.Val3214Ile)	not specified [RCV004873298]	uncertain significance	15	41854184	41854184	Human		name
597778495	CV3604265	single nucleotide variant	NM_016642.4(SPTBN5):c.4817G>T (p.Gly1606Val)	not specified [RCV004873300]	uncertain significance	15	41873918	41873918	Human		name
597778500	CV3604266	single nucleotide variant	NM_016642.4(SPTBN5):c.9848C>T (p.Pro3283Leu)	not specified [RCV004873301]	uncertain significance	15	41853714	41853714	Human		name
597778504	CV3604267	single nucleotide variant	NM_016642.4(SPTBN5):c.3776C>T (p.Thr1259Ile)	not specified [RCV004873302]	uncertain significance	15	41876884	41876884	Human		name
597680145	CV3604268	single nucleotide variant	NM_016642.4(SPTBN5):c.8224C>T (p.Arg2742Trp)	not specified [RCV004857365]	uncertain significance	15	41858604	41858604	Human		name
597778513	CV3604270	single nucleotide variant	NM_016642.4(SPTBN5):c.3332G>A (p.Ser1111Asn)	not specified [RCV004873304]	likely benign	15	41878480	41878480	Human		name
597778515	CV3604271	single nucleotide variant	NM_016642.4(SPTBN5):c.3484G>A (p.Asp1162Asn)	not specified [RCV004873305]	uncertain significance	15	41877343	41877343	Human		name
597680153	CV3604274	single nucleotide variant	NM_016642.4(SPTBN5):c.7109C>T (p.Ser2370Phe)	not specified [RCV004857366]	uncertain significance	15	41863744	41863744	Human		name
597778528	CV3604275	single nucleotide variant	NM_016642.4(SPTBN5):c.8549C>G (p.Ala2850Gly)	not specified [RCV004873308]	uncertain significance	15	41857310	41857310	Human		name
597778535	CV3604277	single nucleotide variant	NM_016642.4(SPTBN5):c.5425C>T (p.Arg1809Cys)	not specified [RCV004873310]	uncertain significance	15	41871397	41871397	Human		name
597680163	CV3604278	single nucleotide variant	NM_016642.4(SPTBN5):c.8347C>T (p.Leu2783Phe)	not specified [RCV004857367]	uncertain significance	15	41857590	41857590	Human		name
597778539	CV3604279	single nucleotide variant	NM_016642.4(SPTBN5):c.4217G>A (p.Arg1406His)	not specified [RCV004873311]	likely benign	15	41875528	41875528	Human		name
597778542	CV3604280	single nucleotide variant	NM_016642.4(SPTBN5):c.5789G>A (p.Arg1930Gln)	not specified [RCV004873312]	uncertain significance	15	41869905	41869905	Human		name
597778547	CV3604281	single nucleotide variant	NM_016642.4(SPTBN5):c.7112G>A (p.Arg2371Gln)	not specified [RCV004873313]	likely benign	15	41863741	41863741	Human		name
597778551	CV3604282	single nucleotide variant	NM_016642.4(SPTBN5):c.8725G>T (p.Val2909Leu)	not specified [RCV004873314]	uncertain significance	15	41856936	41856936	Human		name
598239383	CV3915785	single nucleotide variant	NM_016642.4(SPTBN5):c.5426G>A (p.Arg1809His)	not specified [RCV005276005]	likely benign	15	41871396	41871396	Human		name
598273012	CV3915786	single nucleotide variant	NM_016642.4(SPTBN5):c.6425G>C (p.Gly2142Ala)	not specified [RCV005282797]	uncertain significance	15	41867014	41867014	Human		name
598273016	CV3915787	single nucleotide variant	NM_016642.4(SPTBN5):c.8482A>G (p.Thr2828Ala)	not specified [RCV005282798]	likely benign	15	41857377	41857377	Human		name
598273024	CV3915789	single nucleotide variant	NM_016642.4(SPTBN5):c.8035G>A (p.Glu2679Lys)	not specified [RCV005282800]	uncertain significance	15	41858934	41858934	Human		name
598273031	CV3915791	single nucleotide variant	NM_016642.4(SPTBN5):c.8125G>A (p.Gly2709Ser)	not specified [RCV005282802]	uncertain significance	15	41858703	41858703	Human		name
598273035	CV3915792	single nucleotide variant	NM_016642.4(SPTBN5):c.3187G>A (p.Glu1063Lys)	not specified [RCV005282803]	uncertain significance	15	41878625	41878625	Human		name
598273042	CV3915795	single nucleotide variant	NM_016642.4(SPTBN5):c.3311G>A (p.Arg1104Gln)	not specified [RCV005282805]	uncertain significance	15	41878501	41878501	Human		name
598273046	CV3915796	single nucleotide variant	NM_016642.4(SPTBN5):c.9280G>A (p.Ala3094Thr)	not specified [RCV005282806]	uncertain significance	15	41855367	41855367	Human		name
598273050	CV3915797	single nucleotide variant	NM_016642.4(SPTBN5):c.8371C>T (p.Arg2791Cys)	not specified [RCV005282807]	uncertain significance	15	41857488	41857488	Human		name
598239394	CV3915798	single nucleotide variant	NM_016642.4(SPTBN5):c.6979C>T (p.Arg2327Trp)	not specified [RCV005276007]	uncertain significance	15	41863964	41863964	Human		name
598273055	CV3915799	single nucleotide variant	NM_016642.4(SPTBN5):c.4954C>T (p.Arg1652Trp)	not specified [RCV005282808]	uncertain significance	15	41873545	41873545	Human		name
598273060	CV3915800	single nucleotide variant	NM_016642.4(SPTBN5):c.9433G>A (p.Glu3145Lys)	not specified [RCV005282809]	uncertain significance	15	41854967	41854967	Human		name
598273065	CV3915801	single nucleotide variant	NM_016642.4(SPTBN5):c.6881G>A (p.Arg2294Gln)	not specified [RCV005282810]	uncertain significance	15	41865845	41865845	Human		name
598273074	CV3915803	single nucleotide variant	NM_016642.4(SPTBN5):c.9566G>A (p.Arg3189His)	not specified [RCV005282812]	uncertain significance	15	41854834	41854834	Human		name
598273080	CV3915806	single nucleotide variant	NM_016642.4(SPTBN5):c.5947A>C (p.Ser1983Arg)	not specified [RCV005282814]	uncertain significance	15	41868508	41868508	Human		name
598273087	CV3915808	single nucleotide variant	NM_016642.4(SPTBN5):c.9729C>A (p.Ser3243Arg)	not specified [RCV005282816]	uncertain significance	15	41854095	41854095	Human		name
598239404	CV3915810	single nucleotide variant	NM_016642.4(SPTBN5):c.4395G>C (p.Glu1465Asp)	not specified [RCV005276009]	uncertain significance	15	41874949	41874949	Human		name
598273094	CV3915811	single nucleotide variant	NM_016642.4(SPTBN5):c.5086G>C (p.Glu1696Gln)	not specified [RCV005282818]	uncertain significance	15	41872381	41872381	Human		name
598273097	CV3915812	single nucleotide variant	NM_016642.4(SPTBN5):c.3832C>A (p.Gln1278Lys)	not specified [RCV005282819]	uncertain significance	15	41876828	41876828	Human		name
598273101	CV3915813	single nucleotide variant	NM_016642.4(SPTBN5):c.9767G>A (p.Arg3256His)	not specified [RCV005282820]	uncertain significance	15	41854057	41854057	Human		name
598273105	CV3915814	single nucleotide variant	NM_016642.4(SPTBN5):c.6780C>G (p.Phe2260Leu)	not specified [RCV005282821]	uncertain significance	15	41866080	41866080	Human		name
598273112	CV3915816	single nucleotide variant	NM_016642.4(SPTBN5):c.5665G>A (p.Glu1889Lys)	not specified [RCV005282823]	likely benign	15	41870251	41870251	Human		name
598273120	CV3915819	single nucleotide variant	NM_016642.4(SPTBN5):c.9575C>T (p.Ala3192Val)	not specified [RCV005282825]	uncertain significance	15	41854825	41854825	Human		name
598273130	CV3915822	single nucleotide variant	NM_016642.4(SPTBN5):c.3065A>T (p.Gln1022Leu)	not specified [RCV005282828]	uncertain significance	15	41879377	41879377	Human		name
598273137	CV3915824	single nucleotide variant	NM_016642.4(SPTBN5):c.9985T>C (p.Trp3329Arg)	not specified [RCV005282830]	uncertain significance	15	41853443	41853443	Human		name
598273148	CV3915827	single nucleotide variant	NM_016642.4(SPTBN5):c.7138A>C (p.Ile2380Leu)	not specified [RCV005282833]	uncertain significance	15	41863715	41863715	Human		name
598273151	CV3915828	single nucleotide variant	NM_016642.4(SPTBN5):c.9286G>A (p.Ala3096Thr)	not specified [RCV005282834]	uncertain significance	15	41855361	41855361	Human		name
598273172	CV3915835	single nucleotide variant	NM_016642.4(SPTBN5):c.5212G>C (p.Glu1738Gln)	not specified [RCV005282840]	uncertain significance	15	41871871	41871871	Human		name
15161130	CV703176	single nucleotide variant	NM_016642.4(SPTBN5):c.8041C>T (p.Leu2681Phe)	not provided [RCV000947616]	benign	15	41858928	41858928	Human		name
15177827	CV703177	single nucleotide variant	NM_016642.4(SPTBN5):c.5902G>A (p.Val1968Met)	not provided [RCV000951131]	likely benign	15	41868553	41868553	Human		name
15161141	CV703180	single nucleotide variant	NM_016642.4(SPTBN5):c.4061G>A (p.Arg1354Gln)	not provided [RCV000947618]	benign	15	41876175	41876175	Human		name
21074582	CV797119	single nucleotide variant	NM_016642.4(SPTBN5):c.8809A>T (p.Asn2937Tyr)	Neurodevelopmental disorder [RCV003994186]\|not provided [RCV000995297]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	41856598	41856598	Human	1	name
8635445	CV90666	single nucleotide variant	NM_016642.3(SPTBN5):c.6212C>T (p.Ser2071Phe)	Malignant melanoma [RCV000070764]	not provided	15	41867638	41867638	Human		name
150457086	CV1278582	single nucleotide variant	NM_016642.4(SPTBN5):c.10691A>C (p.Asn3564Thr)	not provided [RCV001709197]	benign	15	41851335	41851335	Human		name
156132646	CV2195893	single nucleotide variant	NM_016642.4(SPTBN5):c.10757T>C (p.Ile3586Thr)	not specified [RCV004072157]	likely benign	15	41851137	41851137	Human		name
156137303	CV2196249	single nucleotide variant	NM_016642.4(SPTBN5):c.10269G>T (p.Gln3423His)	not specified [RCV004073602]	uncertain significance	15	41852902	41852902	Human		name
155962159	CV2200888	single nucleotide variant	NM_016642.4(SPTBN5):c.10852G>C (p.Glu3618Gln)	not specified [RCV004081509]	uncertain significance	15	41850923	41850923	Human		name
156380446	CV2208174	single nucleotide variant	NM_016642.4(SPTBN5):c.10472A>C (p.Gln3491Pro)	not specified [RCV004088641]	uncertain significance	15	41852294	41852294	Human		name
156035694	CV2208222	single nucleotide variant	NM_016642.4(SPTBN5):c.10597A>G (p.Thr3533Ala)	not specified [RCV004088679]	likely benign	15	41851838	41851838	Human		name
156199385	CV2237544	single nucleotide variant	NM_016642.4(SPTBN5):c.10601C>A (p.Pro3534His)	not specified [RCV004106485]	uncertain significance	15	41851834	41851834	Human		name
155928579	CV2281141	single nucleotide variant	NM_016642.4(SPTBN5):c.10674G>T (p.Trp3558Cys)	not specified [RCV004147402]	uncertain significance	15	41851352	41851352	Human		name
156206956	CV2307824	single nucleotide variant	NM_016642.4(SPTBN5):c.10281G>C (p.Gln3427His)	not specified [RCV004170290]	uncertain significance	15	41852890	41852890	Human		name
156204802	CV2311209	single nucleotide variant	NM_016642.4(SPTBN5):c.10513A>T (p.Thr3505Ser)	not specified [RCV004166297]	uncertain significance	15	41852253	41852253	Human		name
156082471	CV2333990	single nucleotide variant	NM_016642.4(SPTBN5):c.10804C>T (p.Arg3602Cys)	not specified [RCV004183518]	likely benign	15	41851090	41851090	Human		name
156079332	CV2337274	single nucleotide variant	NM_016642.4(SPTBN5):c.10687G>C (p.Gly3563Arg)	not specified [RCV004185728]	uncertain significance	15	41851339	41851339	Human		name
156256142	CV2359558	single nucleotide variant	NM_016642.4(SPTBN5):c.10805G>T (p.Arg3602Leu)	not specified [RCV004214864]	uncertain significance	15	41851089	41851089	Human		name
155987431	CV2363830	single nucleotide variant	NM_016642.4(SPTBN5):c.10684C>T (p.Arg3562Cys)	not specified [RCV004218810]	uncertain significance	15	41851342	41851342	Human		name
156006274	CV2394142	single nucleotide variant	NM_016642.4(SPTBN5):c.10648G>A (p.Gly3550Arg)	not specified [RCV004236341]	uncertain significance	15	41851787	41851787	Human		name
329356160	CV2430610	single nucleotide variant	NM_016642.4(SPTBN5):c.10564G>T (p.Ala3522Ser)	not specified [RCV004253804]	uncertain significance	15	41852202	41852202	Human		name
329363768	CV2442449	single nucleotide variant	NM_016642.4(SPTBN5):c.10262G>A (p.Gly3421Asp)	not specified [RCV004266693]	uncertain significance	15	41852909	41852909	Human		name
329368034	CV2442617	single nucleotide variant	NM_016642.4(SPTBN5):c.10280A>G (p.Gln3427Arg)	not specified [RCV004264975]	uncertain significance	15	41852891	41852891	Human		name
329395620	CV2454403	single nucleotide variant	NM_016642.4(SPTBN5):c.10847G>A (p.Gly3616Glu)	not specified [RCV004267914]	uncertain significance	15	41850928	41850928	Human		name
401736632	CV2688839	single nucleotide variant	NM_016642.4(SPTBN5):c.10504A>G (p.Ser3502Gly)	not specified [RCV004303855]	uncertain significance	15	41852262	41852262	Human		name
401732112	CV2712304	single nucleotide variant	NM_016642.4(SPTBN5):c.10844G>C (p.Ser3615Thr)	not specified [RCV004313798]	uncertain significance	15	41850931	41850931	Human		name
401729587	CV2733174	single nucleotide variant	NM_016642.4(SPTBN5):c.10652G>C (p.Arg3551Thr)	not specified [RCV004332100]	uncertain significance	15	41851783	41851783	Human		name
401778336	CV2734611	single nucleotide variant	NM_016642.4(SPTBN5):c.10664C>T (p.Ser3555Leu)	not specified [RCV004332566]	uncertain significance	15	41851362	41851362	Human		name
401864939	CV2757302	single nucleotide variant	NM_016642.4(SPTBN5):c.10871C>T (p.Pro3624Leu)	not specified [RCV004338890]	uncertain significance	15	41850904	41850904	Human		name
401866027	CV2775385	single nucleotide variant	NM_016642.4(SPTBN5):c.10667G>T (p.Ser3556Ile)	not specified [RCV004348788]	uncertain significance	15	41851359	41851359	Human		name
401892918	CV2791935	single nucleotide variant	NM_016642.4(SPTBN5):c.10429G>A (p.Ala3477Thr)	not specified [RCV004359364]	uncertain significance	15	41852654	41852654	Human		name
401879684	CV2792066	single nucleotide variant	NM_016642.4(SPTBN5):c.10802G>A (p.Gly3601Asp)	not specified [RCV004359461]	likely benign	15	41851092	41851092	Human		name
401934303	CV2817443	single nucleotide variant	NM_016642.4(SPTBN5):c.10979C>T (p.Thr3660Met)	not provided [RCV003411166]\|not specified [RCV004867875]	benign\|uncertain significance	15	41849902	41849902	Human		name
401934305	CV2817447	single nucleotide variant	NM_016642.4(SPTBN5):c.10040C>T (p.Ala3347Val)	not provided [RCV003411168]	benign	15	41853388	41853388	Human		name
401916075	CV2817448	single nucleotide variant	NM_016642.4(SPTBN5):c.10033G>A (p.Asp3345Asn)	not provided [RCV003400878]	likely benign	15	41853395	41853395	Human		name
401943600	CV2840104	single nucleotide variant	NM_016642.4(SPTBN5):c.10286T>C (p.Leu3429Pro)	not provided [RCV003456891]	benign	15	41852885	41852885	Human		name
405275272	CV3196185	single nucleotide variant	NM_016642.4(SPTBN5):c.10855A>G (p.Ile3619Val)	SPTBN5-related disorder [RCV003974067]	benign	15	41850920	41850920	Human		name , trait , alternate_id
405270801	CV3212108	single nucleotide variant	NM_016642.4(SPTBN5):c.10799G>A (p.Arg3600Gln)	SPTBN5-related disorder [RCV003949478]	likely benign	15	41851095	41851095	Human		name , trait , alternate_id
405293770	CV3214536	single nucleotide variant	NM_016642.4(SPTBN5):c.10243C>T (p.Arg3415Cys)	SPTBN5-related disorder [RCV003932209]	benign	15	41852928	41852928	Human		name , trait , alternate_id
405777654	CV3330331	single nucleotide variant	NM_016642.4(SPTBN5):c.10087A>G (p.Ile3363Val)	not specified [RCV004458099]	uncertain significance	15	41853341	41853341	Human		name
405777011	CV3334109	single nucleotide variant	NM_016642.4(SPTBN5):c.10529G>C (p.Arg3510Thr)	not specified [RCV004457989]	uncertain significance	15	41852237	41852237	Human		name
405777017	CV3334110	single nucleotide variant	NM_016642.4(SPTBN5):c.10631A>G (p.Gln3544Arg)	not specified [RCV004457990]	uncertain significance	15	41851804	41851804	Human		name
405777024	CV3334111	single nucleotide variant	NM_016642.4(SPTBN5):c.10672T>C (p.Trp3558Arg)	not specified [RCV004457991]	uncertain significance	15	41851354	41851354	Human		name
405777029	CV3334112	single nucleotide variant	NM_016642.4(SPTBN5):c.10700G>A (p.Gly3567Asp)	not specified [RCV004457992]	uncertain significance	15	41851326	41851326	Human		name
405777035	CV3334113	single nucleotide variant	NM_016642.4(SPTBN5):c.10783C>T (p.Arg3595Trp)	not specified [RCV004457993]	uncertain significance	15	41851111	41851111	Human		name
405777039	CV3334114	single nucleotide variant	NM_016642.4(SPTBN5):c.10829C>T (p.Ser3610Phe)	not specified [RCV004457994]	uncertain significance	15	41851065	41851065	Human		name
405777045	CV3334115	single nucleotide variant	NM_016642.4(SPTBN5):c.10846G>C (p.Gly3616Arg)	not specified [RCV004457995]	uncertain significance	15	41850929	41850929	Human		name
405777051	CV3334116	single nucleotide variant	NM_016642.4(SPTBN5):c.10906C>G (p.Leu3636Val)	not specified [RCV004457996]	uncertain significance	15	41850869	41850869	Human		name
405777057	CV3334117	single nucleotide variant	NM_016642.4(SPTBN5):c.10925A>T (p.Gln3642Leu)	not specified [RCV004457997]	uncertain significance	15	41849956	41849956	Human		name
405777063	CV3334118	single nucleotide variant	NM_016642.4(SPTBN5):c.10990G>T (p.Ala3664Ser)	not specified [RCV004457998]	uncertain significance	15	41849891	41849891	Human		name
407516208	CV3478118	single nucleotide variant	NM_016642.4(SPTBN5):c.10765C>G (p.Leu3589Val)	not specified [RCV004675238]	uncertain significance	15	41851129	41851129	Human		name
407516237	CV3478129	single nucleotide variant	NM_016642.4(SPTBN5):c.10013C>A (p.Ser3338Tyr)	not specified [RCV004675248]	uncertain significance	15	41853415	41853415	Human		name
407516249	CV3478135	single nucleotide variant	NM_016642.4(SPTBN5):c.10784G>A (p.Arg3595Gln)	not specified [RCV004675252]	likely benign	15	41851110	41851110	Human		name
407516269	CV3478144	single nucleotide variant	NM_016642.4(SPTBN5):c.10685G>T (p.Arg3562Leu)	not specified [RCV004675259]	uncertain significance	15	41851341	41851341	Human		name
407525812	CV3478146	single nucleotide variant	NM_016642.4(SPTBN5):c.10874C>G (p.Ser3625Cys)	not specified [RCV004679436]	uncertain significance	15	41850901	41850901	Human		name
407525827	CV3478154	single nucleotide variant	NM_016642.4(SPTBN5):c.10604C>G (p.Thr3535Ser)	not specified [RCV004679441]	uncertain significance	15	41851831	41851831	Human		name
408377694	CV3500810	single nucleotide variant	NM_016642.4(SPTBN5):c.10871C>G (p.Pro3624Arg)	not provided [RCV004722460]	benign	15	41850904	41850904	Human		name
597679909	CV3604182	single nucleotide variant	NM_016642.4(SPTBN5):c.10913G>T (p.Ser3638Ile)	not specified [RCV004857335]	uncertain significance	15	41850862	41850862	Human		name
597679963	CV3604195	single nucleotide variant	NM_016642.4(SPTBN5):c.10511T>C (p.Leu3504Pro)	not specified [RCV004857342]	uncertain significance	15	41852255	41852255	Human		name
597778320	CV3604199	single nucleotide variant	NM_016642.4(SPTBN5):c.10018G>A (p.Glu3340Lys)	not specified [RCV004873255]	uncertain significance	15	41853410	41853410	Human		name
597778365	CV3604214	single nucleotide variant	NM_016642.4(SPTBN5):c.10363G>A (p.Val3455Met)	not specified [RCV004873266]	uncertain significance	15	41852720	41852720	Human		name
597680090	CV3604245	single nucleotide variant	NM_016642.4(SPTBN5):c.10646G>A (p.Gly3549Asp)	not specified [RCV004857358]	uncertain significance	15	41851789	41851789	Human		name
597680130	CV3604257	single nucleotide variant	NM_016642.4(SPTBN5):c.10692C>A (p.Asn3564Lys)	not specified [RCV004857363]	uncertain significance	15	41851334	41851334	Human		name
597778507	CV3604269	single nucleotide variant	NM_016642.4(SPTBN5):c.10687G>A (p.Gly3563Arg)	not specified [RCV004873303]	uncertain significance	15	41851339	41851339	Human		name
598239388	CV3915794	single nucleotide variant	NM_016642.4(SPTBN5):c.10972G>A (p.Glu3658Lys)	not specified [RCV005276006]	uncertain significance	15	41849909	41849909	Human		name
598239399	CV3915804	single nucleotide variant	NM_016642.4(SPTBN5):c.10201C>T (p.Arg3401Trp)	not specified [RCV005276008]	uncertain significance	15	41852970	41852970	Human		name
598273077	CV3915805	single nucleotide variant	NM_016642.4(SPTBN5):c.10598C>G (p.Thr3533Ser)	not specified [RCV005282813]	uncertain significance	15	41851837	41851837	Human		name
598273109	CV3915815	single nucleotide variant	NM_016642.4(SPTBN5):c.10525T>G (p.Trp3509Gly)	not specified [RCV005282822]	uncertain significance	15	41852241	41852241	Human		name
598239410	CV3915817	single nucleotide variant	NM_016642.4(SPTBN5):c.10579C>T (p.Pro3527Ser)	not specified [RCV005276010]	uncertain significance	15	41852187	41852187	Human		name
598273116	CV3915818	single nucleotide variant	NM_016642.4(SPTBN5):c.10571C>T (p.Thr3524Met)	not specified [RCV005282824]	uncertain significance	15	41852195	41852195	Human		name
598273123	CV3915820	single nucleotide variant	NM_016642.4(SPTBN5):c.10748T>C (p.Val3583Ala)	not specified [RCV005282826]	uncertain significance	15	41851146	41851146	Human		name
598273133	CV3915823	single nucleotide variant	NM_016642.4(SPTBN5):c.10606A>G (p.Met3536Val)	not specified [RCV005282829]	uncertain significance	15	41851829	41851829	Human		name
598273161	CV3915831	single nucleotide variant	NM_016642.4(SPTBN5):c.10630C>G (p.Gln3544Glu)	not specified [RCV005282837]	uncertain significance	15	41851805	41851805	Human		name
598273165	CV3915833	single nucleotide variant	NM_016642.4(SPTBN5):c.10961G>C (p.Ser3654Thr)	not specified [RCV005282838]	uncertain significance	15	41849920	41849920	Human		name
598273168	CV3915834	single nucleotide variant	NM_016642.4(SPTBN5):c.10403T>C (p.Leu3468Pro)	not specified [RCV005282839]	uncertain significance	15	41852680	41852680	Human		name
21074581	CV797118	single nucleotide variant	NM_016642.4(SPTBN5):c.10896G>A (p.Trp3632Ter)	not provided [RCV000995296]	uncertain significance	15	41850879	41850879	Human		name
401916093	CV2817455	deletion	NM_016642.4(SPTBN5):c.8866_8893del (p.Gly2956fs)	not provided [RCV003400883]	uncertain significance	15	41856514	41856541	Human		name
405174131	CV2853571	deletion	NM_016642.4(SPTBN5):c.4618_4619del (p.Met1540fs)	not provided [RCV003542602]	uncertain significance	15	41874362	41874363	Human		name
405282159	CV3216200	deletion	NM_016642.4(SPTBN5):c.4150_4165del (p.Pro1384fs)	SPTBN5-related disorder [RCV003956725]	uncertain significance	15	41875580	41875595	Human		name , trait , alternate_id
404994595	CV2851190	deletion	NM_016642.4(SPTBN5):c.5188del (p.Thr1729_Leu1730insTer)	not provided [RCV003491614]	uncertain significance	15	41871895	41871895	Human		name

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