Sptbn1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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491 records found for search term Sptbn1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
407429432	CV3413843	single nucleotide variant	NM_003128.3(SPTBN1):c.475-1G>A	Developmental delay, impaired speech, and behavioral abnormalities [RCV004595252]	likely pathogenic	2	54616206	54616206	Human	1	name
15196875	CV730147	single nucleotide variant	NM_003128.3(SPTBN1):c.764-4A>G	SPTBN1-related disorder [RCV004738054]\|not provided [RCV000889893]	benign\|likely benign	2	54621396	54621396	Human	1	name , trait , alternate_id
155797850	CV1860523	single nucleotide variant	NM_003128.3(SPTBN1):c.4494+1G>A	not provided [RCV002467165]	likely pathogenic	2	54645454	54645454	Human		name
155794863	CV1861086	single nucleotide variant	NM_003128.3(SPTBN1):c.5961+2T>C	Developmental delay, impaired speech, and behavioral abnormalities [RCV002468799]	pathogenic	2	54655210	54655210	Human	1	name
156203564	CV2256316	single nucleotide variant	NM_003128.3(SPTBN1):c.6877-3C>A	Inborn genetic diseases [RCV002803610]	uncertain significance	2	54668348	54668348	Human	1	name
156021639	CV2264478	single nucleotide variant	NM_003128.3(SPTBN1):c.3858+3A>G	Inborn genetic diseases [RCV002844661]	uncertain significance	2	54637806	54637806	Human	1	name
405173435	CV2853462	single nucleotide variant	NM_003128.3(SPTBN1):c.6046+5G>A	not provided [RCV003542521]	uncertain significance	2	54656003	54656003	Human		name
405174099	CV2853567	single nucleotide variant	NM_003128.3(SPTBN1):c.4997+5G>C	not provided [RCV003542598]	uncertain significance	2	54647266	54647266	Human		name
405866576	CV3400988	single nucleotide variant	NM_003128.3(SPTBN1):c.4997+3G>A	Developmental delay, impaired speech, and behavioral abnormalities [RCV004577103]	uncertain significance	2	54647264	54647264	Human	1	name
407429300	CV3413687	single nucleotide variant	NM_003128.3(SPTBN1):c.6244-1G>C	Developmental delay, impaired speech, and behavioral abnormalities [RCV004595096]	likely pathogenic	2	54659153	54659153	Human	1	name
407488828	CV3415147	single nucleotide variant	NM_003128.3(SPTBN1):c.3564+1G>C	not provided [RCV004597483]	likely pathogenic	2	54631612	54631612	Human		name
15186958	CV777298	single nucleotide variant	NM_003128.3(SPTBN1):c.1645-4A>G	not provided [RCV000953441]	benign	2	54628093	54628093	Human		name
15098448	CV777300	single nucleotide variant	NM_003128.3(SPTBN1):c.4495-8C>T	not provided [RCV000958561]	benign\|likely benign	2	54645920	54645920	Human		name
8630392	CV85547	single nucleotide variant	NM_003128.3(SPTBN1):c.6420+71C>T	not provided [RCV005412069]	uncertain significance\|not provided	2	54660070	54660070	Human		name
8577303	CV111677	single nucleotide variant	NM_003128.2(SPTBN1):c.-48+4062G>A	Lung cancer [RCV000092200]	uncertain significance	2	54460580	54460580	Human		name
408371250	CV3503711	single nucleotide variant	NM_003128.3(SPTBN1):c.148+32323T>C	SPTBN1-related disorder [RCV004724595]	uncertain significance	2	54558889	54558889	Human		name , trait , alternate_id
408369356	CV3508310	single nucleotide variant	NM_003128.3(SPTBN1):c.148+32331C>A	SPTBN1-related disorder [RCV004736764]	likely benign	2	54558897	54558897	Human		name , trait , alternate_id
408390925	CV3521108	single nucleotide variant	NM_003128.3(SPTBN1):c.148+32321G>T	not provided [RCV004762930]	uncertain significance	2	54558887	54558887	Human		name
408380926	CV3523705	single nucleotide variant	NM_003128.3(SPTBN1):c.148+32312C>T	not provided [RCV004766103]	uncertain significance	2	54558878	54558878	Human		name
598126457	CV3881922	deletion	NM_003128.3(SPTBN1):c.6353_6356+15del	Developmental delay, impaired speech, and behavioral abnormalities [RCV005233474]	likely pathogenic	2	54659250	54659268	Human	1	name
408394660	CV3521582	deletion	NM_003128.3(SPTBN1):c.5203-4_5203-3del	Developmental delay, impaired speech, and behavioral abnormalities [RCV004764380]	likely pathogenic\|uncertain significance	2	54649611	54649612	Human	1	name
401937561	CV2815775	single nucleotide variant	NM_003128.3(SPTBN1):c.105C>T (p.Ser35=)	not provided [RCV003415572]	likely benign	2	54526523	54526523	Human		name
401937562	CV2815776	single nucleotide variant	NM_003128.3(SPTBN1):c.165G>C (p.Val55=)	not provided [RCV003415573]	likely benign	2	54599108	54599108	Human		name
407456728	CV3415962	single nucleotide variant	NM_003128.3(SPTBN1):c.282C>T (p.Val94=)	not provided [RCV004598839]	likely benign	2	54599225	54599225	Human		name
150450927	CV1220796	single nucleotide variant	NM_003128.3(SPTBN1):c.612C>T (p.Asp204=)	not provided [RCV001611890]	benign	2	54617653	54617653	Human		name
401755871	CV2675562	single nucleotide variant	NM_003128.3(SPTBN1):c.71G>A (p.Arg24His)	Inborn genetic diseases [RCV003255416]	uncertain significance	2	54526489	54526489	Human	1	name
405269491	CV3187385	single nucleotide variant	NM_003128.3(SPTBN1):c.32A>G (p.Asn11Ser)	not provided [RCV003887469]	uncertain significance	2	54526450	54526450	Human		name
596943741	CV3544361	deletion	NM_003128.3(SPTBN1):c.3768_3773delACATAG	not specified [RCV004800841]	uncertain significance	2	54637709	54637714	Human		name
596947691	CV3547272	single nucleotide variant	NM_003128.3(SPTBN1):c.699C>T (p.Asn233=)	not provided [RCV004811576]	likely benign	2	54618129	54618129	Human		name
598128590	CV3887795	single nucleotide variant	NM_003128.3(SPTBN1):c.687C>T (p.Asn229=)	not provided [RCV005243969]	likely benign	2	54618117	54618117	Human		name
617153698	CV4016773	single nucleotide variant	NM_003128.3(SPTBN1):c.65A>G (p.Asn22Ser)	not provided [RCV005415870]	uncertain significance	2	54526483	54526483	Human		name
15117970	CV733512	single nucleotide variant	NM_003128.3(SPTBN1):c.336C>T (p.Cys112=)	not provided [RCV000895467]	benign\|likely benign	2	54612196	54612196	Human		name
150528662	CV1306020	single nucleotide variant	NM_003128.3(SPTBN1):c.130C>T (p.Arg44Cys)	not provided [RCV001755423]	uncertain significance	2	54526548	54526548	Human		name
155977904	CV2246940	single nucleotide variant	NM_003128.3(SPTBN1):c.209G>A (p.Arg70His)	Inborn genetic diseases [RCV002777438]	uncertain significance	2	54599152	54599152	Human	1	name
156010328	CV2291001	single nucleotide variant	NM_003128.3(SPTBN1):c.113G>A (p.Arg38Gln)	Inborn genetic diseases [RCV002884045]	uncertain significance	2	54526531	54526531	Human	1	name
243061887	CV2407070	single nucleotide variant	NM_003128.3(SPTBN1):c.176C>G (p.Thr59Ser)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003139153]	pathogenic	2	54599119	54599119	Human	1	name
401912021	CV2815779	single nucleotide variant	NM_003128.3(SPTBN1):c.1749G>A (p.Arg583=)	not provided [RCV003426966]	likely benign	2	54628201	54628201	Human		name
401912023	CV2815780	single nucleotide variant	NM_003128.3(SPTBN1):c.2049C>T (p.Phe683=)	not provided [RCV003426967]	likely benign	2	54629183	54629183	Human		name
401912024	CV2815781	single nucleotide variant	NM_003128.3(SPTBN1):c.2310C>T (p.Ser770=)	not provided [RCV003426968]	likely benign	2	54629444	54629444	Human		name
401929539	CV2815782	single nucleotide variant	NM_003128.3(SPTBN1):c.2601G>A (p.Glu867=)	not provided [RCV003407228]	likely benign	2	54629735	54629735	Human		name
401940603	CV2842096	single nucleotide variant	NM_003128.3(SPTBN1):c.176C>T (p.Thr59Ile)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003459151]	likely pathogenic	2	54599119	54599119	Human	1	name
401963755	CV2843297	single nucleotide variant	NM_003128.3(SPTBN1):c.220C>T (p.Arg74Trp)	not specified [RCV003479639]	uncertain significance	2	54599163	54599163	Human		name
405265197	CV3185524	single nucleotide variant	NM_003128.3(SPTBN1):c.1953A>G (p.Glu651=)	not provided [RCV003886088]	likely benign	2	54629087	54629087	Human		name
405867907	CV3396629	indel	NM_003128.3(SPTBN1):c.5203-1_5203delinsTT	Developmental delay, impaired speech, and behavioral abnormalities [RCV004560501]	uncertain significance	2	54649614	54649615	Human		name
407425333	CV3409455	single nucleotide variant	NM_003128.3(SPTBN1):c.1770C>T (p.Ser590=)	not provided [RCV004585387]	likely benign	2	54628222	54628222	Human		name
407428624	CV3410302	single nucleotide variant	NM_003128.3(SPTBN1):c.1707G>A (p.Lys569=)	not specified [RCV004587909]	likely benign	2	54628159	54628159	Human		name
407455964	CV3415790	single nucleotide variant	NM_003128.3(SPTBN1):c.1569G>C (p.Arg523=)	not provided [RCV004598666]	likely benign	2	54626159	54626159	Human		name
407516150	CV3478069	single nucleotide variant	NM_003128.3(SPTBN1):c.1065A>G (p.Lys355=)	Inborn genetic diseases [RCV004675200]	likely benign	2	54623479	54623479	Human	1	name
407516158	CV3478073	single nucleotide variant	NM_003128.3(SPTBN1):c.110C>T (p.Ala37Val)	Inborn genetic diseases [RCV004675203]	uncertain significance	2	54526528	54526528	Human	1	name
407516166	CV3478078	single nucleotide variant	NM_003128.3(SPTBN1):c.215C>G (p.Ser72Cys)	Inborn genetic diseases [RCV004675207]	uncertain significance	2	54599158	54599158	Human	1	name
408369824	CV3517016	single nucleotide variant	NM_003128.3(SPTBN1):c.1464C>T (p.Leu488=)	SPTBN1-related disorder [RCV004737735]	likely benign	2	54626054	54626054	Human		name , trait , alternate_id
408385338	CV3526977	single nucleotide variant	NM_003128.3(SPTBN1):c.149A>T (p.Asp50Val)	not provided [RCV004772290]	uncertain significance	2	54599092	54599092	Human		name
596921521	CV3535143	single nucleotide variant	NM_003128.3(SPTBN1):c.253G>C (p.Gly85Arg)	not provided [RCV004784702]	uncertain significance	2	54599196	54599196	Human		name
596945335	CV3547838	single nucleotide variant	NM_003128.3(SPTBN1):c.1422C>T (p.Tyr474=)	not provided [RCV004809169]	likely benign	2	54626012	54626012	Human		name
616939598	CV4014094	single nucleotide variant	NM_003128.3(SPTBN1):c.1989G>A (p.Ser663=)	not provided [RCV005413586]	likely benign	2	54629123	54629123	Human		name
617152527	CV4020770	single nucleotide variant	NM_003128.3(SPTBN1):c.2136G>A (p.Ser712=)	not provided [RCV005428523]	likely benign	2	54629270	54629270	Human		name
13478336	CV443282	single nucleotide variant	NM_003128.3(SPTBN1):c.259A>T (p.Met87Leu)	not provided [RCV000520638]	uncertain significance	2	54599202	54599202	Human		name
15176928	CV708311	single nucleotide variant	NM_003128.3(SPTBN1):c.2997C>T (p.Thr999=)	not provided [RCV000973304]	benign	2	54631044	54631044	Human		name
15194953	CV719905	single nucleotide variant	NM_003128.3(SPTBN1):c.1470C>T (p.Ala490=)	not provided [RCV000889363]	benign	2	54626060	54626060	Human		name
8625384	CV80507	single nucleotide variant	NM_003128.2(SPTBN1):c.1251G>A (p.Gln417=)	Malignant melanoma [RCV000060584]	not provided	2	54624872	54624872	Human		name
8630391	CV85546	single nucleotide variant	NM_003128.2(SPTBN1):c.2379C>T (p.Ile793=)	Malignant melanoma [RCV000065629]	not provided	2	54629513	54629513	Human		name
127286051	CV1161641	single nucleotide variant	NM_003128.3(SPTBN1):c.803C>G (p.Thr268Ser)	SPTBN1-related disorder [RCV001526439]	pathogenic	2	54621439	54621439	Human		name , trait , alternate_id
150426252	CV1186000	single nucleotide variant	NM_003128.3(SPTBN1):c.549C>A (p.Cys183Ter)	Developmental delay, impaired speech, and behavioral abnormalities [RCV001559330]	pathogenic	2	54616281	54616281	Human	1	name
150426253	CV1186001	single nucleotide variant	NM_003128.3(SPTBN1):c.614G>A (p.Gly205Asp)	Developmental delay, impaired speech, and behavioral abnormalities [RCV001559331]	pathogenic	2	54617655	54617655	Human	1	name
150426254	CV1186002	single nucleotide variant	NM_003128.3(SPTBN1):c.749T>G (p.Leu250Arg)	Developmental delay, impaired speech, and behavioral abnormalities [RCV001559332]	pathogenic	2	54618179	54618179	Human	1	name
150436742	CV1245988	single nucleotide variant	NM_003128.3(SPTBN1):c.469T>G (p.Phe157Val)	Developmental delay, impaired speech, and behavioral abnormalities [RCV001663400]	uncertain significance	2	54612329	54612329	Human	1	name
150534912	CV1311686	single nucleotide variant	NM_003128.3(SPTBN1):c.890C>G (p.Ala297Gly)	not provided [RCV002544230]\|not specified [RCV001779496]	uncertain significance	2	54622313	54622313	Human		name
150536072	CV1312256	single nucleotide variant	NM_003128.3(SPTBN1):c.811G>A (p.Val271Met)	Neurodevelopmental disorder [RCV001780018]	likely pathogenic	2	54621447	54621447	Human	1	name
152982215	CV1677168	single nucleotide variant	NM_003128.3(SPTBN1):c.718C>G (p.Leu240Val)	Inborn genetic diseases [RCV003355836]\|not specified [RCV002248872]	uncertain significance	2	54618148	54618148	Human	1	name
152982542	CV1677471	single nucleotide variant	NM_003128.3(SPTBN1):c.586C>T (p.His196Tyr)	Developmental delay, impaired speech, and behavioral abnormalities [RCV002249180]	likely pathogenic	2	54617627	54617627	Human	1	name
153348486	CV1692523	single nucleotide variant	NM_003128.3(SPTBN1):c.748C>G (p.Leu250Val)	Neurodevelopmental delay [RCV002274377]	likely pathogenic	2	54618178	54618178	Human	1	name
153346952	CV1694295	single nucleotide variant	NM_003128.3(SPTBN1):c.646C>T (p.Arg216Trp)	Neurodevelopmental disorder [RCV002277711]	uncertain significance	2	54617687	54617687	Human	1	name
155641546	CV1707029	single nucleotide variant	NM_003128.3(SPTBN1):c.546G>T (p.Trp182Cys)	not provided [RCV002287959]	uncertain significance	2	54616278	54616278	Human		name
155644351	CV1708626	single nucleotide variant	NM_003128.3(SPTBN1):c.666T>A (p.Phe222Leu)	Developmental delay, impaired speech, and behavioral abnormalities [RCV002291159]	uncertain significance	2	54618096	54618096	Human	1	name
155683157	CV1784540	single nucleotide variant	NM_003128.3(SPTBN1):c.430C>T (p.Arg144Trp)	Developmental delay, impaired speech, and behavioral abnormalities [RCV002310603]	uncertain significance	2	54612290	54612290	Human	1	name
156310910	CV1913511	single nucleotide variant	NM_003128.3(SPTBN1):c.626A>G (p.Asn209Ser)	not provided [RCV002599650]	uncertain significance	2	54617667	54617667	Human		name
155963597	CV1952213	single nucleotide variant	NM_003128.3(SPTBN1):c.772G>A (p.Val258Met)	Developmental delay, impaired speech, and behavioral abnormalities [RCV002512491]	uncertain significance	2	54621408	54621408	Human	1	name
156207608	CV2298055	single nucleotide variant	NM_003128.3(SPTBN1):c.647G>A (p.Arg216Gln)	Inborn genetic diseases [RCV002875245]	uncertain significance	2	54617688	54617688	Human	1	name
156014153	CV2300513	single nucleotide variant	NM_003128.3(SPTBN1):c.677A>G (p.Lys226Arg)	Inborn genetic diseases [RCV002884385]	uncertain significance	2	54618107	54618107	Human	1	name
243050689	CV2403826	single nucleotide variant	NM_003128.3(SPTBN1):c.688G>A (p.Ala230Thr)	See cases [RCV003128497]	uncertain significance	2	54618118	54618118	Human		name
243052349	CV2417841	single nucleotide variant	NM_003128.3(SPTBN1):c.865C>T (p.Arg289Ter)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003152905]	pathogenic\|likely pathogenic	2	54621501	54621501	Human	1	name
401771007	CV2686139	single nucleotide variant	NM_003128.3(SPTBN1):c.581A>G (p.Asn194Ser)	Inborn genetic diseases [RCV003284585]	uncertain significance	2	54617622	54617622	Human	1	name
401798516	CV2739363	single nucleotide variant	NM_003128.3(SPTBN1):c.752T>C (p.Leu251Ser)	not provided [RCV003319011]	likely pathogenic	2	54618182	54618182	Human		name
401797585	CV2741004	single nucleotide variant	NM_003128.3(SPTBN1):c.511G>C (p.Glu171Gln)	not provided [RCV003322168]	uncertain significance	2	54616243	54616243	Human		name
401876163	CV2750151	single nucleotide variant	NM_003128.3(SPTBN1):c.641A>G (p.Lys214Arg)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003333594]	uncertain significance	2	54617682	54617682	Human	1	name
401919462	CV2798393	single nucleotide variant	NM_003128.3(SPTBN1):c.752T>G (p.Leu251Trp)	SPTBN1-related disorder [RCV003402358]	uncertain significance	2	54618182	54618182	Human		name , trait , alternate_id
401907857	CV2801205	single nucleotide variant	NM_003128.3(SPTBN1):c.616A>G (p.Met206Val)	SPTBN1-related disorder [RCV003397446]	uncertain significance	2	54617657	54617657	Human		name , trait , alternate_id
401936462	CV2803554	single nucleotide variant	NM_003128.3(SPTBN1):c.952A>G (p.Ile318Val)	SPTBN1-related disorder [RCV003414473]	uncertain significance	2	54622375	54622375	Human		name , trait , alternate_id
401912020	CV2815777	single nucleotide variant	NM_003128.3(SPTBN1):c.330C>G (p.Ile110Met)	not provided [RCV003426965]	uncertain significance	2	54612190	54612190	Human		name
401912025	CV2815784	single nucleotide variant	NM_003128.3(SPTBN1):c.3261G>C (p.Ser1087=)	not provided [RCV003426969]	likely benign	2	54631308	54631308	Human		name
401937564	CV2815785	single nucleotide variant	NM_003128.3(SPTBN1):c.3354C>T (p.Tyr1118=)	not provided [RCV003415575]	likely benign	2	54631401	54631401	Human		name
401937566	CV2815787	single nucleotide variant	NM_003128.3(SPTBN1):c.4800C>T (p.Asp1600=)	not provided [RCV003415577]	likely benign	2	54646409	54646409	Human		name
401929542	CV2815788	single nucleotide variant	NM_003128.3(SPTBN1):c.5730A>G (p.Thr1910=)	not provided [RCV003407229]	benign	2	54653761	54653761	Human		name
401912028	CV2815790	single nucleotide variant	NM_003128.3(SPTBN1):c.6105A>C (p.Gly2035=)	not provided [RCV003426971]	likely benign	2	54657908	54657908	Human		name
401912029	CV2815791	single nucleotide variant	NM_003128.3(SPTBN1):c.6150C>T (p.Asp2050=)	not provided [RCV003426972]	likely benign	2	54657953	54657953	Human		name
401929545	CV2815792	single nucleotide variant	NM_003128.3(SPTBN1):c.6744C>G (p.Pro2248=)	not provided [RCV003407230]	likely benign	2	54665999	54665999	Human		name
401912031	CV2815794	single nucleotide variant	NM_003128.3(SPTBN1):c.7026C>G (p.Pro2342=)	not provided [RCV003426973]	likely benign	2	54668500	54668500	Human		name
401905284	CV2831423	single nucleotide variant	NM_003128.3(SPTBN1):c.553A>T (p.Met185Leu)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003444415]	uncertain significance	2	54616285	54616285	Human	1	name
405215715	CV2981725	single nucleotide variant	NM_003128.3(SPTBN1):c.485T>C (p.Ile162Thr)	not provided [RCV003709289]	uncertain significance	2	54616217	54616217	Human		name
405076948	CV3081183	single nucleotide variant	NM_003128.3(SPTBN1):c.328A>T (p.Ile110Phe)	Developmental disorder [RCV003764470]	likely benign	2	54612188	54612188	Human	1	name
405265124	CV3202083	single nucleotide variant	NM_003128.3(SPTBN1):c.400G>C (p.Gly134Arg)	SPTBN1-related disorder [RCV003897279]	uncertain significance	2	54612260	54612260	Human		name , trait , alternate_id
405276197	CV3206627	single nucleotide variant	NM_003128.3(SPTBN1):c.3030A>G (p.Ala1010=)	SPTBN1-related disorder [RCV003917070]	benign\|likely benign	2	54631077	54631077	Human		name , trait , alternate_id
405718203	CV3227708	single nucleotide variant	NM_003128.3(SPTBN1):c.539T>C (p.Leu180Pro)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003992049]	uncertain significance	2	54616271	54616271	Human	1	name
405776537	CV3334030	single nucleotide variant	NM_003128.3(SPTBN1):c.603C>G (p.Ser201Arg)	Inborn genetic diseases [RCV004457909]	uncertain significance	2	54617644	54617644	Human	1	name
405776571	CV3334036	single nucleotide variant	NM_003128.3(SPTBN1):c.932C>T (p.Ala311Val)	Inborn genetic diseases [RCV004457915]	uncertain significance	2	54622355	54622355	Human	1	name
405776577	CV3334037	single nucleotide variant	NM_003128.3(SPTBN1):c.960A>C (p.Gln320His)	Inborn genetic diseases [RCV004457916]	uncertain significance	2	54622383	54622383	Human	1	name
407455960	CV3415789	single nucleotide variant	NM_003128.3(SPTBN1):c.5262C>T (p.Arg1754=)	not provided [RCV004598665]	likely benign	2	54649674	54649674	Human		name
408375274	CV3502595	deletion	NM_003128.3(SPTBN1):c.1853del (p.Phe618fs)	not provided [RCV004726182]	pathogenic	2	54628986	54628986	Human		name
408369401	CV3510730	single nucleotide variant	NM_003128.3(SPTBN1):c.4386C>T (p.Thr1462=)	SPTBN1-related disorder [RCV004736898]	benign	2	54645345	54645345	Human		name , trait , alternate_id
408369525	CV3512812	single nucleotide variant	NM_003128.3(SPTBN1):c.6315G>A (p.Pro2105=)	SPTBN1-related disorder [RCV004737009]	likely benign	2	54659225	54659225	Human		name , trait , alternate_id
408391611	CV3523277	single nucleotide variant	NM_003128.3(SPTBN1):c.530A>G (p.Asp177Gly)	not provided [RCV004770650]	uncertain significance	2	54616262	54616262	Human		name
408389915	CV3524825	single nucleotide variant	NM_003128.3(SPTBN1):c.461T>G (p.Ile154Ser)	not provided [RCV004769720]	uncertain significance	2	54612321	54612321	Human		name
408385653	CV3528614	single nucleotide variant	NM_003128.3(SPTBN1):c.995A>T (p.Asn332Ile)	not provided [RCV004772447]	uncertain significance	2	54622418	54622418	Human		name
596931425	CV3531761	single nucleotide variant	NM_003128.3(SPTBN1):c.467G>A (p.Arg156His)	not provided [RCV004781323]	uncertain significance	2	54612327	54612327	Human		name
596947756	CV3547339	single nucleotide variant	NM_003128.3(SPTBN1):c.6978G>A (p.Ala2326=)	not provided [RCV004811643]	likely benign	2	54668452	54668452	Human		name
596938848	CV3549858	single nucleotide variant	NM_003128.3(SPTBN1):c.838A>G (p.Met280Val)	not provided [RCV004812899]	uncertain significance	2	54621474	54621474	Human		name
597631377	CV3552686	single nucleotide variant	NM_003128.3(SPTBN1):c.790A>C (p.Lys264Gln)	not provided [RCV004823386]	uncertain significance	2	54621426	54621426	Human		name
597732099	CV3604116	single nucleotide variant	NM_003128.3(SPTBN1):c.340G>C (p.Glu114Gln)	Inborn genetic diseases [RCV004964165]	uncertain significance	2	54612200	54612200	Human	1	name
597656423	CV3731574	single nucleotide variant	NM_003128.3(SPTBN1):c.935C>T (p.Ser312Phe)	not provided [RCV005001755]	uncertain significance	2	54622358	54622358	Human		name
597833656	CV3735660	deletion	NM_003128.3(SPTBN1):c.2917del (p.Glu973fs)	not provided [RCV005063522]	pathogenic	2	54630962	54630962	Human		name
597935520	CV3863705	single nucleotide variant	NM_003128.3(SPTBN1):c.474G>C (p.Gln158His)	not provided [RCV005207518]	uncertain significance	2	54612334	54612334	Human		name
598126098	CV3881773	single nucleotide variant	NM_003128.3(SPTBN1):c.760G>A (p.Glu254Lys)	Developmental delay, impaired speech, and behavioral abnormalities [RCV005233324]	likely pathogenic	2	54618190	54618190	Human	1	name
598127059	CV3882440	single nucleotide variant	NM_003128.3(SPTBN1):c.448A>T (p.Ile150Phe)	not provided [RCV005233992]	uncertain significance	2	54612308	54612308	Human		name
598129780	CV3887201	single nucleotide variant	NM_003128.3(SPTBN1):c.6444C>T (p.Ser2148=)	not provided [RCV005245261]	likely benign	2	54664476	54664476	Human		name
598222678	CV3893907	single nucleotide variant	NM_003128.3(SPTBN1):c.6075C>T (p.Asp2025=)	not provided [RCV005257150]	likely benign	2	54657878	54657878	Human		name
616939569	CV4014064	single nucleotide variant	NM_003128.3(SPTBN1):c.3306G>A (p.Thr1102=)	not provided [RCV005413556]	likely benign	2	54631353	54631353	Human		name
617152339	CV4020708	single nucleotide variant	NM_003128.3(SPTBN1):c.6309C>T (p.Pro2103=)	not provided [RCV005427965]	likely benign	2	54659219	54659219	Human		name
617153829	CV4022148	single nucleotide variant	NM_003128.3(SPTBN1):c.471C>G (p.Phe157Leu)	Developmental delay, impaired speech, and behavioral abnormalities [RCV005429208]	likely pathogenic	2	54612331	54612331	Human	1	name
14698398	CV624049	single nucleotide variant	NM_003128.3(SPTBN1):c.613G>A (p.Gly205Ser)	SPTBN1-related neurodevelopmental disease [RCV000787939]	uncertain significance	2	54617654	54617654	Human		name , trait , alternate_id
15195434	CV697600	single nucleotide variant	NM_003128.3(SPTBN1):c.3096C>T (p.Ala1032=)	not provided [RCV000955922]	likely benign	2	54631143	54631143	Human		name
15191730	CV697601	single nucleotide variant	NM_003128.3(SPTBN1):c.6288G>A (p.Arg2096=)	SPTBN1-related disorder [RCV004738103]\|not provided [RCV000954862]	benign	2	54659198	54659198	Human	1	name , trait , alternate_id
15178459	CV708312	single nucleotide variant	NM_003128.3(SPTBN1):c.5241C>T (p.Thr1747=)	not provided [RCV000973671]	benign	2	54649653	54649653	Human		name
15198524	CV719906	single nucleotide variant	NM_003128.3(SPTBN1):c.5271G>A (p.Thr1757=)	not provided [RCV000890381]	likely benign	2	54649683	54649683	Human		name
15202070	CV719907	single nucleotide variant	NM_003128.3(SPTBN1):c.6591G>A (p.Ser2197=)	not provided [RCV000891372]	benign	2	54664623	54664623	Human		name
150426255	CV1186003	single nucleotide variant	NM_003128.3(SPTBN1):c.2674G>T (p.Glu892Ter)	Developmental delay, impaired speech, and behavioral abnormalities [RCV001559333]	pathogenic	2	54629896	54629896	Human	1	name
150531885	CV1306116	single nucleotide variant	NM_003128.3(SPTBN1):c.1471G>C (p.Glu491Gln)	not provided [RCV001757305]	likely pathogenic\|uncertain significance	2	54626061	54626061	Human		name
150531970	CV1306168	single nucleotide variant	NM_003128.3(SPTBN1):c.2338C>T (p.Gln780Ter)	not provided [RCV001757357]	uncertain significance	2	54629472	54629472	Human		name
150534750	CV1311559	single nucleotide variant	NM_003128.3(SPTBN1):c.2471T>C (p.Leu824Pro)	Developmental delay, impaired speech, and behavioral abnormalities [RCV001779405]	uncertain significance	2	54629605	54629605	Human	1	name
150536060	CV1312248	single nucleotide variant	NM_003128.3(SPTBN1):c.2887G>A (p.Glu963Lys)	Neurodevelopmental disorder [RCV001780010]	uncertain significance	2	54630934	54630934	Human	1	name
151823586	CV1352250	single nucleotide variant	NM_003128.3(SPTBN1):c.2780A>G (p.Lys927Arg)	not provided [RCV002013634]	uncertain significance	2	54630002	54630002	Human		name
152982543	CV1677472	single nucleotide variant	NM_003128.3(SPTBN1):c.1043G>C (p.Arg348Pro)	Developmental delay, impaired speech, and behavioral abnormalities [RCV002249181]	likely pathogenic	2	54622466	54622466	Human	1	name
153345832	CV1691463	duplication	NM_003128.3(SPTBN1):c.4718dup (p.Trp1574fs)	Neurodevelopmental disorder [RCV002272946]	pathogenic	2	54646326	54646327	Human	1	name
153346044	CV1691548	single nucleotide variant	NM_003128.3(SPTBN1):c.1226C>T (p.Ala409Val)	Developmental delay, impaired speech, and behavioral abnormalities [RCV002273031]	likely benign\|uncertain significance	2	54624847	54624847	Human	1	name
155265250	CV1704709	single nucleotide variant	NM_003128.3(SPTBN1):c.1712C>T (p.Thr571Ile)	not provided [RCV002284925]	uncertain significance	2	54628164	54628164	Human		name
155796713	CV1859135	single nucleotide variant	NM_003128.3(SPTBN1):c.2914C>T (p.Arg972Trp)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003458871]\|not provided [RCV002464763]	uncertain significance	2	54630961	54630961	Human	1	name
155796695	CV1862979	single nucleotide variant	NM_003128.3(SPTBN1):c.1429C>T (p.Arg477Cys)	Developmental delay, impaired speech, and behavioral abnormalities [RCV002470253]	likely pathogenic	2	54626019	54626019	Human	1	name
155946296	CV1872110	single nucleotide variant	NM_003128.3(SPTBN1):c.2699A>T (p.Asn900Ile)	not provided [RCV003073868]	uncertain significance	2	54629921	54629921	Human		name
156260914	CV1906544	single nucleotide variant	NM_003128.3(SPTBN1):c.1840G>A (p.Ala614Thr)	not provided [RCV003086435]	uncertain significance	2	54628974	54628974	Human		name
156083428	CV2205514	single nucleotide variant	NM_003128.3(SPTBN1):c.1363C>T (p.Pro455Ser)	Inborn genetic diseases [RCV002660925]	uncertain significance	2	54625953	54625953	Human	1	name
156375735	CV2210292	single nucleotide variant	NM_003128.3(SPTBN1):c.1658C>G (p.Ser553Cys)	Inborn genetic diseases [RCV002677674]	uncertain significance	2	54628110	54628110	Human	1	name
156383131	CV2223790	deletion	NM_003128.3(SPTBN1):c.3523del (p.Leu1175fs)	Inborn genetic diseases [RCV002722921]	pathogenic	2	54631569	54631569	Human	1	name
156295231	CV2233713	single nucleotide variant	NM_003128.3(SPTBN1):c.1146G>T (p.Met382Ile)	Inborn genetic diseases [RCV002748075]	uncertain significance	2	54623560	54623560	Human	1	name
155916000	CV2239628	single nucleotide variant	NM_003128.3(SPTBN1):c.1472A>G (p.Glu491Gly)	Inborn genetic diseases [RCV002772301]	uncertain significance	2	54626062	54626062	Human	1	name
156024373	CV2273862	single nucleotide variant	NM_003128.3(SPTBN1):c.2755G>T (p.Gly919Cys)	Inborn genetic diseases [RCV002844883]	uncertain significance	2	54629977	54629977	Human	1	name
155953032	CV2306308	single nucleotide variant	NM_003128.3(SPTBN1):c.1685G>A (p.Gly562Asp)	Inborn genetic diseases [RCV002905280]	uncertain significance	2	54628137	54628137	Human	1	name
156057077	CV2326714	single nucleotide variant	NM_003128.3(SPTBN1):c.1133A>G (p.Gln378Arg)	Inborn genetic diseases [RCV002950445]	uncertain significance	2	54623547	54623547	Human	1	name
156346864	CV2375328	single nucleotide variant	NM_003128.3(SPTBN1):c.2755G>A (p.Gly919Ser)	Inborn genetic diseases [RCV002719814]	uncertain significance	2	54629977	54629977	Human	1	name
156390750	CV2383382	single nucleotide variant	NM_003128.3(SPTBN1):c.1553G>A (p.Arg518Lys)	Inborn genetic diseases [RCV002724678]	uncertain significance	2	54626143	54626143	Human	1	name
156248469	CV2393953	single nucleotide variant	NM_003128.3(SPTBN1):c.2135C>T (p.Ser712Leu)	Inborn genetic diseases [RCV002768709]	likely benign	2	54629269	54629269	Human	1	name
243063666	CV2405113	single nucleotide variant	NM_003128.3(SPTBN1):c.2581T>C (p.Cys861Arg)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003225833]	uncertain significance	2	54629715	54629715	Human	1	name
243061557	CV2406452	single nucleotide variant	NM_003128.3(SPTBN1):c.2207G>T (p.Arg736Leu)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003138794]	uncertain significance	2	54629341	54629341	Human	1	name
329382209	CV2424368	single nucleotide variant	NM_003128.3(SPTBN1):c.1829G>A (p.Arg610Gln)	Inborn genetic diseases [RCV003188374]	likely benign	2	54628963	54628963	Human	1	name
329386786	CV2452524	single nucleotide variant	NM_003128.3(SPTBN1):c.2489G>A (p.Arg830Gln)	Inborn genetic diseases [RCV003214929]	uncertain significance	2	54629623	54629623	Human	1	name
329846926	CV2524032	single nucleotide variant	NM_003128.3(SPTBN1):c.2168G>A (p.Arg723Gln)	not specified [RCV003226737]	uncertain significance	2	54629302	54629302	Human		name
401749028	CV2694554	single nucleotide variant	NM_003128.3(SPTBN1):c.1960A>G (p.Ile654Val)	Inborn genetic diseases [RCV003253229]	likely benign	2	54629094	54629094	Human	1	name
401746056	CV2695492	single nucleotide variant	NM_003128.3(SPTBN1):c.2506G>C (p.Glu836Gln)	Inborn genetic diseases [RCV003275626]	uncertain significance	2	54629640	54629640	Human	1	name
401760259	CV2718775	single nucleotide variant	NM_003128.3(SPTBN1):c.1975A>C (p.Lys659Gln)	Inborn genetic diseases [RCV003299465]	uncertain significance	2	54629109	54629109	Human	1	name
401798048	CV2739191	single nucleotide variant	NM_003128.3(SPTBN1):c.2267T>G (p.Ile756Ser)	not provided [RCV003318839]	uncertain significance	2	54629401	54629401	Human		name
401796590	CV2740756	single nucleotide variant	NM_003128.3(SPTBN1):c.2126A>C (p.His709Pro)	not provided [RCV003321426]	uncertain significance	2	54629260	54629260	Human		name
401872301	CV2749468	single nucleotide variant	NM_003128.3(SPTBN1):c.2653G>A (p.Glu885Lys)	not provided [RCV003332596]	uncertain significance	2	54629787	54629787	Human		name
401915954	CV2795344	single nucleotide variant	NM_003128.3(SPTBN1):c.1922G>A (p.Trp641Ter)	Neurodevelopmental disorder [RCV003389179]	likely pathogenic	2	54629056	54629056	Human	1	name
401926942	CV2796786	single nucleotide variant	NM_003128.3(SPTBN1):c.2522G>A (p.Arg841Gln)	SPTBN1-related disorder [RCV003406109]	uncertain significance	2	54629656	54629656	Human		name , trait , alternate_id
401919119	CV2798180	single nucleotide variant	NM_003128.3(SPTBN1):c.1141T>C (p.Tyr381His)	SPTBN1-related disorder [RCV003402204]\|not provided [RCV004763677]	uncertain significance	2	54623555	54623555	Human	1	name , trait , alternate_id
401919130	CV2798185	single nucleotide variant	NM_003128.3(SPTBN1):c.2680C>G (p.Leu894Val)	SPTBN1-related disorder [RCV003402206]\|not provided [RCV004765821]	uncertain significance	2	54629902	54629902	Human	1	name , trait , alternate_id
401933981	CV2802516	single nucleotide variant	NM_003128.3(SPTBN1):c.2223G>C (p.Glu741Asp)	SPTBN1-related disorder [RCV003410864]	uncertain significance	2	54629357	54629357	Human		name , trait , alternate_id
401929536	CV2815778	single nucleotide variant	NM_003128.3(SPTBN1):c.1492C>T (p.Arg498Cys)	not provided [RCV003407227]	uncertain significance	2	54626082	54626082	Human		name
401937563	CV2815783	single nucleotide variant	NM_003128.3(SPTBN1):c.2747T>C (p.Met916Thr)	not provided [RCV003415574]	uncertain significance	2	54629969	54629969	Human		name
404999288	CV2851184	single nucleotide variant	NM_003128.3(SPTBN1):c.1573G>A (p.Glu525Lys)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003493180]	uncertain significance	2	54626163	54626163	Human	1	name
404999293	CV2851185	single nucleotide variant	NM_003128.3(SPTBN1):c.1328G>A (p.Arg443His)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003493181]	uncertain significance	2	54624949	54624949	Human	1	name
405000177	CV2851186	single nucleotide variant	NM_003128.3(SPTBN1):c.2431C>T (p.Pro811Ser)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003493182]	uncertain significance	2	54629565	54629565	Human	1	name
405270010	CV3187580	single nucleotide variant	NM_003128.3(SPTBN1):c.1360C>T (p.Leu454Phe)	not provided [RCV003887664]	uncertain significance	2	54625950	54625950	Human		name
405291275	CV3222262	duplication	NM_003128.3(SPTBN1):c.3941dup (p.Leu1314fs)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003985144]	likely pathogenic	2	54643063	54643064	Human	1	name
405701039	CV3224940	single nucleotide variant	NM_003128.3(SPTBN1):c.1493G>A (p.Arg498His)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003989224]	uncertain significance	2	54626083	54626083	Human	1	name
405701660	CV3226040	single nucleotide variant	NM_003128.3(SPTBN1):c.2489G>T (p.Arg830Leu)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003989459]	uncertain significance	2	54629623	54629623	Human	1	name
405696618	CV3226751	single nucleotide variant	NM_003128.3(SPTBN1):c.2086C>T (p.Gln696Ter)	not provided [RCV003993144]	likely pathogenic	2	54629220	54629220	Human		name
405776398	CV3334007	single nucleotide variant	NM_003128.3(SPTBN1):c.1635T>A (p.Asp545Glu)	Inborn genetic diseases [RCV004457886]	uncertain significance	2	54626225	54626225	Human	1	name
405776408	CV3334009	single nucleotide variant	NM_003128.3(SPTBN1):c.1717G>A (p.Val573Ile)	Inborn genetic diseases [RCV004457888]	uncertain significance	2	54628169	54628169	Human	1	name
405776414	CV3334010	single nucleotide variant	NM_003128.3(SPTBN1):c.2016C>G (p.Ser672Arg)	Inborn genetic diseases [RCV004457889]	uncertain significance	2	54629150	54629150	Human	1	name
405776421	CV3334011	single nucleotide variant	NM_003128.3(SPTBN1):c.2215C>T (p.Arg739Cys)	Inborn genetic diseases [RCV004457890]	uncertain significance	2	54629349	54629349	Human	1	name
405776429	CV3334012	single nucleotide variant	NM_003128.3(SPTBN1):c.2380G>A (p.Ala794Thr)	Inborn genetic diseases [RCV004457891]	uncertain significance	2	54629514	54629514	Human	1	name
405776437	CV3334013	single nucleotide variant	NM_003128.3(SPTBN1):c.2617A>G (p.Asn873Asp)	Inborn genetic diseases [RCV004457892]	uncertain significance	2	54629751	54629751	Human	1	name
405776441	CV3334014	single nucleotide variant	NM_003128.3(SPTBN1):c.2618A>T (p.Asn873Ile)	Inborn genetic diseases [RCV004457893]	uncertain significance	2	54629752	54629752	Human	1	name
405853233	CV3393668	single nucleotide variant	NM_003128.3(SPTBN1):c.1792G>A (p.Gly598Arg)	not provided [RCV004546398]	uncertain significance	2	54628244	54628244	Human		name
405873091	CV3398393	single nucleotide variant	NM_003128.3(SPTBN1):c.1072G>A (p.Glu358Lys)	not provided [RCV004575889]	uncertain significance	2	54623486	54623486	Human		name
407425880	CV3409667	single nucleotide variant	NM_003128.3(SPTBN1):c.1063A>G (p.Lys355Glu)	not provided [RCV004585599]	uncertain significance	2	54622486	54622486	Human		name
407429304	CV3413691	single nucleotide variant	NM_003128.3(SPTBN1):c.2512A>G (p.Thr838Ala)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004595100]	uncertain significance	2	54629646	54629646	Human	1	name
407525780	CV3478077	single nucleotide variant	NM_003128.3(SPTBN1):c.1613T>C (p.Leu538Pro)	Inborn genetic diseases [RCV004679421]	uncertain significance	2	54626203	54626203	Human	1	name
407574321	CV3498670	single nucleotide variant	NM_003128.3(SPTBN1):c.2034C>A (p.Ser678Arg)	not specified [RCV004703146]	uncertain significance	2	54629168	54629168	Human		name
408373119	CV3502198	single nucleotide variant	NM_003128.3(SPTBN1):c.1517T>C (p.Val506Ala)	not provided [RCV004725785]	uncertain significance	2	54626107	54626107	Human		name
408371481	CV3503804	single nucleotide variant	NM_003128.3(SPTBN1):c.1936G>A (p.Glu646Lys)	SPTBN1-related disorder [RCV004724653]	uncertain significance	2	54629070	54629070	Human		name , trait , alternate_id
408369446	CV3511672	single nucleotide variant	NM_003128.3(SPTBN1):c.1969A>G (p.Lys657Glu)	SPTBN1-related disorder [RCV004736939]	likely benign	2	54629103	54629103	Human		name , trait , alternate_id
408394569	CV3521487	single nucleotide variant	NM_003128.3(SPTBN1):c.2284G>C (p.Asp762His)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004764284]	uncertain significance	2	54629418	54629418	Human	1	name
408388617	CV3522740	single nucleotide variant	NM_003128.3(SPTBN1):c.1436A>T (p.Gln479Leu)	not provided [RCV004769121]	uncertain significance	2	54626026	54626026	Human		name
408391485	CV3523217	single nucleotide variant	NM_003128.3(SPTBN1):c.1245A>G (p.Ile415Met)	not provided [RCV004770589]	uncertain significance	2	54624866	54624866	Human		name
408386858	CV3524264	single nucleotide variant	NM_003128.3(SPTBN1):c.1294G>A (p.Ala432Thr)	not provided [RCV004768138]	uncertain significance	2	54624915	54624915	Human		name
408389917	CV3524826	single nucleotide variant	NM_003128.3(SPTBN1):c.1060C>T (p.Pro354Ser)	not provided [RCV004769721]	uncertain significance	2	54622483	54622483	Human		name
408394109	CV3526352	single nucleotide variant	NM_003128.3(SPTBN1):c.2092A>T (p.Ile698Phe)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004771784]	uncertain significance	2	54629226	54629226	Human	1	name
408382078	CV3526691	single nucleotide variant	NM_003128.3(SPTBN1):c.1400T>C (p.Ile467Thr)	not provided [RCV004772004]	uncertain significance	2	54625990	54625990	Human		name
408390552	CV3527610	single nucleotide variant	NM_003128.3(SPTBN1):c.2244G>C (p.Gln748His)	not provided [RCV004774877]	uncertain significance	2	54629378	54629378	Human		name
408385424	CV3528500	single nucleotide variant	NM_003128.3(SPTBN1):c.1136A>C (p.Lys379Thr)	not provided [RCV004772332]	uncertain significance	2	54623550	54623550	Human		name
408386508	CV3528962	single nucleotide variant	NM_003128.3(SPTBN1):c.2827C>G (p.Leu943Val)	not provided [RCV004772795]	uncertain significance	2	54630874	54630874	Human		name
408386564	CV3528990	single nucleotide variant	NM_003128.3(SPTBN1):c.2551C>G (p.Leu851Val)	not provided [RCV004772823]	uncertain significance	2	54629685	54629685	Human		name
596922742	CV3530076	single nucleotide variant	NM_003128.3(SPTBN1):c.2860G>A (p.Ala954Thr)	not provided [RCV004776675]	uncertain significance	2	54630907	54630907	Human		name
596922992	CV3530203	single nucleotide variant	NM_003128.3(SPTBN1):c.1644G>T (p.Lys548Asn)	not provided [RCV004776802]	uncertain significance	2	54626234	54626234	Human		name
596929115	CV3530961	single nucleotide variant	NM_003128.3(SPTBN1):c.1577T>C (p.Met526Thr)	not provided [RCV004779535]	uncertain significance	2	54626167	54626167	Human		name
596924390	CV3532247	single nucleotide variant	NM_003128.3(SPTBN1):c.1082A>G (p.Asn361Ser)	not provided [RCV004777358]	uncertain significance	2	54623496	54623496	Human		name
596920420	CV3534604	single nucleotide variant	NM_003128.3(SPTBN1):c.1828C>T (p.Arg610Ter)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004782165]	pathogenic	2	54628962	54628962	Human	1	name
596921514	CV3535136	single nucleotide variant	NM_003128.3(SPTBN1):c.1258C>G (p.Leu420Val)	not provided [RCV004784695]	uncertain significance	2	54624879	54624879	Human		name
596922030	CV3535660	single nucleotide variant	NM_003128.3(SPTBN1):c.1641G>C (p.Met547Ile)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004785215]	uncertain significance	2	54626231	54626231	Human	1	name
596928449	CV3540412	single nucleotide variant	NM_003128.3(SPTBN1):c.1782C>G (p.Phe594Leu)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004794739]	uncertain significance	2	54628234	54628234	Human	1	name
596943035	CV3542726	single nucleotide variant	NM_003128.3(SPTBN1):c.1769C>A (p.Ser590Tyr)	not provided [RCV004798310]	uncertain significance	2	54628221	54628221	Human		name
596946025	CV3550336	single nucleotide variant	NM_003128.3(SPTBN1):c.1550T>C (p.Leu517Pro)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004818876]	uncertain significance	2	54626140	54626140	Human	1	name
597648137	CV3551685	single nucleotide variant	NM_003128.3(SPTBN1):c.1221A>C (p.Glu407Asp)	not provided [RCV004820398]	uncertain significance	2	54624842	54624842	Human		name
597655573	CV3552190	single nucleotide variant	NM_003128.3(SPTBN1):c.1495A>G (p.Ile499Val)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004821048]	uncertain significance	2	54626085	54626085	Human	1	name
597633106	CV3552948	single nucleotide variant	NM_003128.3(SPTBN1):c.2166C>G (p.Ile722Met)	not provided [RCV004823778]	uncertain significance	2	54629300	54629300	Human		name
597731991	CV3604100	single nucleotide variant	NM_003128.3(SPTBN1):c.2446G>A (p.Glu816Lys)	Inborn genetic diseases [RCV004964149]	uncertain significance	2	54629580	54629580	Human	1	name
597732006	CV3604102	single nucleotide variant	NM_003128.3(SPTBN1):c.2194C>G (p.Leu732Val)	Inborn genetic diseases [RCV004964151]	uncertain significance	2	54629328	54629328	Human	1	name
597732018	CV3604104	single nucleotide variant	NM_003128.3(SPTBN1):c.2808G>C (p.Arg936Ser)	Inborn genetic diseases [RCV004964153]	uncertain significance	2	54630855	54630855	Human	1	name
597732026	CV3604105	single nucleotide variant	NM_003128.3(SPTBN1):c.2503G>A (p.Ala835Thr)	Inborn genetic diseases [RCV004964154]	uncertain significance	2	54629637	54629637	Human	1	name
597732072	CV3604112	single nucleotide variant	NM_003128.3(SPTBN1):c.2158A>G (p.Ile720Val)	Inborn genetic diseases [RCV004964161]	likely benign\|uncertain significance	2	54629292	54629292	Human	1	name
597732085	CV3604114	single nucleotide variant	NM_003128.3(SPTBN1):c.1273C>T (p.Arg425Cys)	Inborn genetic diseases [RCV004964163]	uncertain significance	2	54624894	54624894	Human	1	name
597732125	CV3604120	single nucleotide variant	NM_003128.3(SPTBN1):c.2954G>C (p.Gly985Ala)	Inborn genetic diseases [RCV004964169]	uncertain significance	2	54631001	54631001	Human	1	name
597732132	CV3604121	single nucleotide variant	NM_003128.3(SPTBN1):c.2024G>A (p.Arg675His)	Inborn genetic diseases [RCV004964170]	uncertain significance	2	54629158	54629158	Human	1	name
597732152	CV3604124	single nucleotide variant	NM_003128.3(SPTBN1):c.2878T>C (p.Tyr960His)	Inborn genetic diseases [RCV004964173]	uncertain significance	2	54630925	54630925	Human	1	name
597732173	CV3604127	single nucleotide variant	NM_003128.3(SPTBN1):c.2714T>G (p.Val905Gly)	Inborn genetic diseases [RCV004964177]	uncertain significance	2	54629936	54629936	Human	1	name
597732180	CV3604128	single nucleotide variant	NM_003128.3(SPTBN1):c.2267T>C (p.Ile756Thr)	Inborn genetic diseases [RCV004964178]	uncertain significance	2	54629401	54629401	Human	1	name
597732193	CV3604130	single nucleotide variant	NM_003128.3(SPTBN1):c.2310C>A (p.Ser770Arg)	Inborn genetic diseases [RCV004964180]	uncertain significance	2	54629444	54629444	Human	1	name
597668330	CV3732763	single nucleotide variant	NM_003128.3(SPTBN1):c.2477G>T (p.Gly826Val)	not provided [RCV005004595]	uncertain significance	2	54629611	54629611	Human		name
597833441	CV3735577	single nucleotide variant	NM_003128.3(SPTBN1):c.2066G>C (p.Gly689Ala)	not provided [RCV005063439]	uncertain significance	2	54629200	54629200	Human		name
597924397	CV3777952	single nucleotide variant	NM_003128.3(SPTBN1):c.2711G>A (p.Arg904Gln)	not provided [RCV005130676]	uncertain significance	2	54629933	54629933	Human		name
598127008	CV3882415	single nucleotide variant	NM_003128.3(SPTBN1):c.2130C>A (p.Phe710Leu)	not provided [RCV005233967]	uncertain significance	2	54629264	54629264	Human		name
598128613	CV3887818	single nucleotide variant	NM_003128.3(SPTBN1):c.2117C>T (p.Ala706Val)	not provided [RCV005243992]	likely benign	2	54629251	54629251	Human		name
598123419	CV3890332	single nucleotide variant	NM_003128.3(SPTBN1):c.1651G>A (p.Val551Ile)	not provided [RCV005250851]	uncertain significance	2	54628103	54628103	Human		name
598216296	CV3891434	single nucleotide variant	NM_003128.3(SPTBN1):c.2590T>C (p.Trp864Arg)	Developmental delay, impaired speech, and behavioral abnormalities [RCV005252276]	uncertain significance	2	54629724	54629724	Human	1	name
598199430	CV3892550	single nucleotide variant	NM_003128.3(SPTBN1):c.1874A>T (p.Gln625Leu)	not provided [RCV005254383]	uncertain significance	2	54629008	54629008	Human		name
598222456	CV3893881	single nucleotide variant	NM_003128.3(SPTBN1):c.1502C>T (p.Ala501Val)	not provided [RCV005257124]	likely benign	2	54626092	54626092	Human		name
598272861	CV3915721	single nucleotide variant	NM_003128.3(SPTBN1):c.1445T>C (p.Val482Ala)	Inborn genetic diseases [RCV005282739]	uncertain significance	2	54626035	54626035	Human	1	name
598239362	CV3915725	single nucleotide variant	NM_003128.3(SPTBN1):c.2165T>A (p.Ile722Asn)	Inborn genetic diseases [RCV005276000]	uncertain significance	2	54629299	54629299	Human	1	name
598272877	CV3915729	single nucleotide variant	NM_003128.3(SPTBN1):c.1003G>A (p.Val335Ile)	Inborn genetic diseases [RCV005282745]	uncertain significance	2	54622426	54622426	Human	1	name
598272886	CV3915732	single nucleotide variant	NM_003128.3(SPTBN1):c.2693T>C (p.Met898Thr)	Inborn genetic diseases [RCV005282748]	uncertain significance	2	54629915	54629915	Human	1	name
598272897	CV3915736	single nucleotide variant	NM_003128.3(SPTBN1):c.1424A>G (p.Glu475Gly)	Inborn genetic diseases [RCV005282752]	uncertain significance	2	54626014	54626014	Human	1	name
616937779	CV4013009	single nucleotide variant	NM_003128.3(SPTBN1):c.1166T>G (p.Ile389Ser)	not provided [RCV005410475]	uncertain significance	2	54623580	54623580	Human		name
616935377	CV4016019	single nucleotide variant	NM_003128.3(SPTBN1):c.2915G>C (p.Arg972Pro)	not provided [RCV005414883]	uncertain significance	2	54630962	54630962	Human		name
617150589	CV4017670	single nucleotide variant	NM_003128.3(SPTBN1):c.1355T>G (p.Phe452Cys)	not provided [RCV005417328]	uncertain significance	2	54625945	54625945	Human		name
617152980	CV4020844	single nucleotide variant	NM_003128.3(SPTBN1):c.2873A>G (p.Gln958Arg)	not provided [RCV005428597]	uncertain significance	2	54630920	54630920	Human		name
617149689	CV4021321	single nucleotide variant	NM_003128.3(SPTBN1):c.1490A>G (p.Lys497Arg)	not provided [RCV005425290]	likely benign	2	54626080	54626080	Human		name
126740259	CV1024638	single nucleotide variant	NM_003128.3(SPTBN1):c.3172C>G (p.Leu1058Val)	not provided [RCV001350716]	uncertain significance	2	54631219	54631219	Human		name
126774972	CV1024639	single nucleotide variant	NM_003128.3(SPTBN1):c.3757A>G (p.Ile1253Val)	not provided [RCV001347845]	uncertain significance	2	54632758	54632758	Human		name
126752527	CV1035682	duplication	NM_003128.3(SPTBN1):c.3908dup (p.Tyr1303Ter)	Atypical behavior [RCV001352631]	uncertain significance	2	54643031	54643032	Human	1	name
150426256	CV1186004	single nucleotide variant	NM_003128.3(SPTBN1):c.5656G>C (p.Glu1886Gln)	Developmental delay, impaired speech, and behavioral abnormalities [RCV001559334]	pathogenic	2	54653687	54653687	Human	1	name
150552752	CV1307225	single nucleotide variant	NM_003128.3(SPTBN1):c.3007C>T (p.Arg1003Trp)	SPTBN1-related disorder [RCV003401702]\|not provided [RCV001768337]	likely pathogenic\|uncertain significance	2	54631054	54631054	Human	1	name , trait , alternate_id
150550750	CV1307350	single nucleotide variant	NM_003128.3(SPTBN1):c.6731C>A (p.Ala2244Asp)	not provided [RCV001753385]	likely pathogenic\|uncertain significance	2	54665986	54665986	Human		name
150550381	CV1308024	single nucleotide variant	NM_003128.3(SPTBN1):c.3496T>C (p.Ser1166Pro)	not provided [RCV001753014]	uncertain significance	2	54631543	54631543	Human		name
150557353	CV1310747	single nucleotide variant	NM_003128.3(SPTBN1):c.5405C>A (p.Ala1802Asp)	not provided [RCV001776481]	uncertain significance	2	54649817	54649817	Human		name
150534748	CV1311558	single nucleotide variant	NM_003128.3(SPTBN1):c.5708G>A (p.Arg1903His)	Developmental delay, impaired speech, and behavioral abnormalities [RCV001779404]	uncertain significance	2	54653739	54653739	Human	1	name
151349117	CV1324343	single nucleotide variant	NM_003128.3(SPTBN1):c.4751G>A (p.Arg1584His)	Developmental delay, impaired speech, and behavioral abnormalities [RCV001808260]	uncertain significance	2	54646360	54646360	Human	1	name
151349525	CV1324403	single nucleotide variant	NM_003128.3(SPTBN1):c.5746T>C (p.Phe1916Leu)	Developmental delay, impaired speech, and behavioral abnormalities [RCV001808848]	uncertain significance	2	54653777	54653777	Human	1	name
151716798	CV1334762	single nucleotide variant	NM_003128.3(SPTBN1):c.3909C>G (p.Tyr1303Ter)	Developmental delay, impaired speech, and behavioral abnormalities [RCV001843718]\|not provided [RCV004770222]	pathogenic\|likely pathogenic	2	54643033	54643033	Human	1	name
152101933	CV1667165	single nucleotide variant	NM_003128.3(SPTBN1):c.6319A>G (p.Thr2107Ala)	SPTBN1-related disorder [RCV003973346]\|not provided [RCV002214151]	benign\|likely benign	2	54659229	54659229	Human	1	name , trait , alternate_id
152982216	CV1677169	single nucleotide variant	NM_003128.3(SPTBN1):c.4543C>T (p.His1515Tyr)	not specified [RCV002248873]	uncertain significance	2	54645976	54645976	Human		name
153347689	CV1692205	single nucleotide variant	NM_003128.3(SPTBN1):c.5998A>G (p.Lys2000Glu)	not provided [RCV002273690]	uncertain significance	2	54655950	54655950	Human		name
155265306	CV1695500	single nucleotide variant	NM_003128.3(SPTBN1):c.7052A>G (p.Lys2351Arg)	not provided [RCV002280232]	uncertain significance	2	54668526	54668526	Human		name
155268842	CV1705669	single nucleotide variant	NM_003128.3(SPTBN1):c.5608C>T (p.Leu1870Phe)	not provided [RCV002286276]	uncertain significance	2	54653639	54653639	Human		name
155642138	CV1706165	single nucleotide variant	NM_003128.3(SPTBN1):c.6665G>A (p.Trp2222Ter)	not provided [RCV002287028]	uncertain significance	2	54665920	54665920	Human		name
155643133	CV1707694	single nucleotide variant	NM_003128.3(SPTBN1):c.6194C>G (p.Ser2065Cys)	Developmental delay, impaired speech, and behavioral abnormalities [RCV002289155]	uncertain significance	2	54657997	54657997	Human	1	name
155644767	CV1708792	single nucleotide variant	NM_003128.3(SPTBN1):c.4801G>T (p.Ala1601Ser)	not provided [RCV002291389]	uncertain significance	2	54646410	54646410	Human		name
155716780	CV1780530	single nucleotide variant	NM_003128.3(SPTBN1):c.4721G>C (p.Trp1574Ser)	not provided [RCV002306135]	uncertain significance	2	54646330	54646330	Human		name
155798048	CV1860582	single nucleotide variant	NM_003128.3(SPTBN1):c.4187T>A (p.Leu1396Gln)	not provided [RCV002467224]	uncertain significance	2	54644504	54644504	Human		name
156417482	CV1909748	single nucleotide variant	NM_003128.3(SPTBN1):c.3533C>T (p.Thr1178Met)	not provided [RCV002610740]	uncertain significance	2	54631580	54631580	Human		name
156145624	CV2037309	single nucleotide variant	NM_003128.3(SPTBN1):c.4013T>A (p.Met1338Lys)	not provided [RCV002786676]	uncertain significance	2	54644330	54644330	Human		name
156256304	CV2056833	single nucleotide variant	NM_003128.3(SPTBN1):c.7051A>C (p.Lys2351Gln)	not provided [RCV002791863]	uncertain significance	2	54668525	54668525	Human		name
156149465	CV2200943	single nucleotide variant	NM_003128.3(SPTBN1):c.6556G>A (p.Ala2186Thr)	Inborn genetic diseases [RCV002641775]	likely benign	2	54664588	54664588	Human	1	name
156084780	CV2205613	single nucleotide variant	NM_003128.3(SPTBN1):c.5113C>T (p.Arg1705Trp)	Inborn genetic diseases [RCV002661002]	uncertain significance	2	54649101	54649101	Human	1	name
156097547	CV2206844	single nucleotide variant	NM_003128.3(SPTBN1):c.3677A>G (p.Asn1226Ser)	Inborn genetic diseases [RCV002661753]\|not provided [RCV003427592]	likely benign	2	54632678	54632678	Human	1	name
156326991	CV2219745	single nucleotide variant	NM_003128.3(SPTBN1):c.4639A>G (p.Arg1547Gly)	Inborn genetic diseases [RCV002717530]	uncertain significance	2	54646248	54646248	Human	1	name
155978687	CV2247105	single nucleotide variant	NM_003128.3(SPTBN1):c.5656G>A (p.Glu1886Lys)	Inborn genetic diseases [RCV002777505]	uncertain significance	2	54653687	54653687	Human	1	name
156196042	CV2251911	single nucleotide variant	NM_003128.3(SPTBN1):c.5654G>A (p.Arg1885His)	Inborn genetic diseases [RCV002803154]	uncertain significance	2	54653685	54653685	Human	1	name
156163690	CV2270205	single nucleotide variant	NM_003128.3(SPTBN1):c.4708C>G (p.Leu1570Val)	Inborn genetic diseases [RCV002827546]	likely benign	2	54646317	54646317	Human	1	name
155948198	CV2272023	single nucleotide variant	NM_003128.3(SPTBN1):c.6913G>A (p.Ala2305Thr)	Inborn genetic diseases [RCV002840077]	uncertain significance	2	54668387	54668387	Human	1	name
156273244	CV2277706	single nucleotide variant	NM_003128.3(SPTBN1):c.5868C>G (p.Ile1956Met)	Inborn genetic diseases [RCV002877723]	uncertain significance	2	54655115	54655115	Human	1	name
156128695	CV2283920	single nucleotide variant	NM_003128.3(SPTBN1):c.6549G>C (p.Gln2183His)	Inborn genetic diseases [RCV002849549]	uncertain significance	2	54664581	54664581	Human	1	name
155945353	CV2292064	single nucleotide variant	NM_003128.3(SPTBN1):c.3608G>T (p.Gly1203Val)	Inborn genetic diseases [RCV002880142]	likely benign	2	54632609	54632609	Human	1	name
155908549	CV2302452	single nucleotide variant	NM_003128.3(SPTBN1):c.3298C>G (p.Leu1100Val)	Inborn genetic diseases [RCV002902197]	uncertain significance	2	54631345	54631345	Human	1	name
156202088	CV2313196	single nucleotide variant	NM_003128.3(SPTBN1):c.4654G>A (p.Val1552Ile)	Inborn genetic diseases [RCV002893199]	uncertain significance	2	54646263	54646263	Human	1	name
156395487	CV2329219	single nucleotide variant	NM_003128.3(SPTBN1):c.6166A>G (p.Ile2056Val)	Inborn genetic diseases [RCV002944573]	uncertain significance	2	54657969	54657969	Human	1	name
156041520	CV2342151	single nucleotide variant	NM_003128.3(SPTBN1):c.3378G>C (p.Glu1126Asp)	Inborn genetic diseases [RCV002977241]	uncertain significance	2	54631425	54631425	Human	1	name
156181453	CV2384076	single nucleotide variant	NM_003128.3(SPTBN1):c.6590C>T (p.Ser2197Leu)	Inborn genetic diseases [RCV002699404]	uncertain significance	2	54664622	54664622	Human	1	name
243051468	CV2404058	single nucleotide variant	NM_003128.3(SPTBN1):c.4138A>G (p.Asn1380Asp)	not provided [RCV003128933]	uncertain significance	2	54644455	54644455	Human		name
243061556	CV2406451	single nucleotide variant	NM_003128.3(SPTBN1):c.4970C>T (p.Ala1657Val)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003138793]	uncertain significance	2	54647234	54647234	Human	1	name
243061558	CV2406453	single nucleotide variant	NM_003128.3(SPTBN1):c.6937G>A (p.Val2313Met)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003138795]	uncertain significance	2	54668411	54668411	Human	1	name
243050183	CV2415408	single nucleotide variant	NM_003128.3(SPTBN1):c.4634T>C (p.Phe1545Ser)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003147930]	uncertain significance	2	54646243	54646243	Human	1	name
243051329	CV2415768	single nucleotide variant	NM_003128.3(SPTBN1):c.7024C>G (p.Pro2342Ala)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003148378]	uncertain significance	2	54668498	54668498	Human	1	name
243050446	CV2417383	single nucleotide variant	NM_003128.3(SPTBN1):c.3311A>G (p.His1104Arg)	not provided [RCV003152255]	uncertain significance	2	54631358	54631358	Human		name
243052688	CV2417980	single nucleotide variant	NM_003128.3(SPTBN1):c.3928C>T (p.His1310Tyr)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003153045]	uncertain significance	2	54643052	54643052	Human	1	name
329395684	CV2462931	single nucleotide variant	NM_003128.3(SPTBN1):c.6724A>G (p.Thr2242Ala)	Inborn genetic diseases [RCV003219246]	uncertain significance	2	54665979	54665979	Human	1	name
329355351	CV2477471	single nucleotide variant	NM_003128.3(SPTBN1):c.3844C>T (p.Gln1282Ter)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003223367]	likely pathogenic	2	54637789	54637789	Human	1	name
329953084	CV2669793	single nucleotide variant	NM_003128.3(SPTBN1):c.4436A>G (p.His1479Arg)	not provided [RCV003234417]	uncertain significance	2	54645395	54645395	Human		name
329952885	CV2670228	single nucleotide variant	NM_003128.3(SPTBN1):c.6234G>C (p.Arg2078Ser)	not provided [RCV003233438]	uncertain significance	2	54658037	54658037	Human		name
401752963	CV2681071	single nucleotide variant	NM_003128.3(SPTBN1):c.4078A>G (p.Lys1360Glu)	Inborn genetic diseases [RCV003254507]	likely benign	2	54644395	54644395	Human	1	name
401739625	CV2683122	single nucleotide variant	NM_003128.3(SPTBN1):c.6955A>G (p.Ser2319Gly)	Inborn genetic diseases [RCV003250994]	likely benign	2	54668429	54668429	Human	1	name
401771602	CV2686254	single nucleotide variant	NM_003128.3(SPTBN1):c.4813G>A (p.Glu1605Lys)	Inborn genetic diseases [RCV003284773]	uncertain significance	2	54646422	54646422	Human	1	name
401756376	CV2687117	single nucleotide variant	NM_003128.3(SPTBN1):c.6041G>A (p.Arg2014Lys)	Inborn genetic diseases [RCV003255619]	uncertain significance	2	54655993	54655993	Human	1	name
401744240	CV2688124	single nucleotide variant	NM_003128.3(SPTBN1):c.5405C>T (p.Ala1802Val)	Inborn genetic diseases [RCV003275257]	uncertain significance	2	54649817	54649817	Human	1	name
401742984	CV2694026	single nucleotide variant	NM_003128.3(SPTBN1):c.5368C>G (p.Leu1790Val)	Inborn genetic diseases [RCV003274970]	uncertain significance	2	54649780	54649780	Human	1	name
401743076	CV2715389	single nucleotide variant	NM_003128.3(SPTBN1):c.3712G>C (p.Asp1238His)	Inborn genetic diseases [RCV003292988]	uncertain significance	2	54632713	54632713	Human	1	name
401772240	CV2719580	single nucleotide variant	NM_003128.3(SPTBN1):c.3313G>A (p.Glu1105Lys)	Inborn genetic diseases [RCV003304610]	uncertain significance	2	54631360	54631360	Human	1	name
401738968	CV2738443	single nucleotide variant	NM_003128.3(SPTBN1):c.4166G>A (p.Cys1389Tyr)	not specified [RCV003317835]	uncertain significance	2	54644483	54644483	Human		name
401797703	CV2740966	single nucleotide variant	NM_003128.3(SPTBN1):c.7034G>A (p.Arg2345Gln)	not provided [RCV003322130]	uncertain significance	2	54668508	54668508	Human		name
401829184	CV2747270	single nucleotide variant	NM_003128.3(SPTBN1):c.4630A>G (p.Ile1544Val)	not provided [RCV003328735]	uncertain significance	2	54646239	54646239	Human		name
401860411	CV2750228	single nucleotide variant	NM_003128.3(SPTBN1):c.6883A>G (p.Met2295Val)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003333677]	uncertain significance	2	54668357	54668357	Human	1	name
401889402	CV2758069	single nucleotide variant	NM_003128.3(SPTBN1):c.6959C>T (p.Thr2320Met)	Inborn genetic diseases [RCV003368411]\|SPTBN1-related disorder [RCV004738735]\|not provided [RCV003883984]	benign\|likely benign	2	54668433	54668433	Human	2	name , trait , alternate_id
401895855	CV2769012	single nucleotide variant	NM_003128.3(SPTBN1):c.6272A>T (p.Gln2091Leu)	Inborn genetic diseases [RCV003373456]	uncertain significance	2	54659182	54659182	Human	1	name
401879019	CV2780881	single nucleotide variant	NM_003128.3(SPTBN1):c.6299C>A (p.Pro2100Gln)	Developmental delay, impaired speech, and behavioral abnormalities [RCV005412547]\|Inborn genetic diseases [RCV003384527]	uncertain significance	2	54659209	54659209	Human	2	name
401883181	CV2785568	single nucleotide variant	NM_003128.3(SPTBN1):c.6457G>A (p.Gly2153Ser)	Inborn genetic diseases [RCV003386072]\|SPTBN1-related disorder [RCV004723288]	uncertain significance	2	54664489	54664489	Human	2	name , trait , alternate_id
401882834	CV2788613	single nucleotide variant	NM_003128.3(SPTBN1):c.3730G>T (p.Asp1244Tyr)	Inborn genetic diseases [RCV003385921]	uncertain significance	2	54632731	54632731	Human	1	name
401924245	CV2795111	single nucleotide variant	NM_003128.3(SPTBN1):c.3011A>G (p.Asp1004Gly)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003388885]	uncertain significance	2	54631058	54631058	Human	1	name
401902802	CV2799609	single nucleotide variant	NM_003128.3(SPTBN1):c.6559A>G (p.Thr2187Ala)	SPTBN1-related disorder [RCV003419056]	uncertain significance	2	54664591	54664591	Human		name , trait , alternate_id
401926159	CV2803431	single nucleotide variant	NM_003128.3(SPTBN1):c.5123A>T (p.Asp1708Val)	SPTBN1-related disorder [RCV003405865]	uncertain significance	2	54649111	54649111	Human		name , trait , alternate_id
401924550	CV2804940	single nucleotide variant	NM_003128.3(SPTBN1):c.5595G>C (p.Glu1865Asp)	not specified [RCV003404758]	uncertain significance	2	54653626	54653626	Human		name
401924607	CV2804997	single nucleotide variant	NM_003128.3(SPTBN1):c.6920C>A (p.Ser2307Tyr)	not specified [RCV003404816]	uncertain significance	2	54668394	54668394	Human		name
401937565	CV2815786	single nucleotide variant	NM_003128.3(SPTBN1):c.3993C>A (p.Asp1331Glu)	SPTBN1-related disorder [RCV004738739]\|not provided [RCV003415576]	benign\|likely benign	2	54643117	54643117	Human	1	name , trait , alternate_id
401912027	CV2815789	single nucleotide variant	NM_003128.3(SPTBN1):c.5773C>T (p.Leu1925Phe)	not provided [RCV003426970]	uncertain significance	2	54653804	54653804	Human		name
401929548	CV2815793	single nucleotide variant	NM_003128.3(SPTBN1):c.7015G>A (p.Glu2339Lys)	not provided [RCV003407231]	uncertain significance	2	54668489	54668489	Human		name
401912865	CV2830045	single nucleotide variant	NM_003128.3(SPTBN1):c.6949A>G (p.Thr2317Ala)	not provided [RCV003441259]	uncertain significance	2	54668423	54668423	Human		name
401940260	CV2832546	single nucleotide variant	NM_003128.3(SPTBN1):c.6898C>T (p.Gln2300Ter)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003448526]	uncertain significance	2	54668372	54668372	Human	1	name
597624617	CV2839565	single nucleotide variant	NM_003128.3(SPTBN1):c.3296A>G (p.Lys1099Arg)	Inborn genetic diseases [RCV004964174]	uncertain significance	2	54631343	54631343	Human	1	name
404999282	CV2851183	single nucleotide variant	NM_003128.3(SPTBN1):c.3728C>T (p.Ser1243Leu)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003493179]	uncertain significance	2	54632729	54632729	Human	1	name
404999306	CV2851187	single nucleotide variant	NM_003128.3(SPTBN1):c.5270C>T (p.Thr1757Met)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003493183]\|SPTBN1-related disorder [RCV004738747]	uncertain significance	2	54649682	54649682	Human	1	name , trait , alternate_id
402492239	CV2877870	single nucleotide variant	NM_003128.3(SPTBN1):c.5681A>C (p.Lys1894Thr)	not provided [RCV003545058]	uncertain significance	2	54653712	54653712	Human		name
405205065	CV2916156	single nucleotide variant	NM_003128.3(SPTBN1):c.6419G>A (p.Arg2140Gln)	not provided [RCV003566393]	uncertain significance	2	54659998	54659998	Human		name
405195071	CV2921953	single nucleotide variant	NM_003128.3(SPTBN1):c.6103G>A (p.Gly2035Arg)	not provided [RCV003565278]	uncertain significance	2	54657906	54657906	Human		name
405269875	CV3187522	single nucleotide variant	NM_003128.3(SPTBN1):c.5516T>C (p.Val1839Ala)	not provided [RCV003887606]	uncertain significance	2	54649928	54649928	Human		name
405268092	CV3189640	single nucleotide variant	NM_003128.3(SPTBN1):c.3716G>A (p.Gly1239Glu)	SPTBN1-related disorder [RCV003899031]	uncertain significance	2	54632717	54632717	Human		name , trait , alternate_id
405259742	CV3195205	single nucleotide variant	NM_003128.3(SPTBN1):c.5653C>T (p.Arg1885Cys)	SPTBN1-related disorder [RCV003894401]	likely benign	2	54653684	54653684	Human		name , trait , alternate_id
405268922	CV3201208	single nucleotide variant	NM_003128.3(SPTBN1):c.4765G>A (p.Glu1589Lys)	SPTBN1-related disorder [RCV003899314]	likely benign	2	54646374	54646374	Human		name , trait , alternate_id
405266605	CV3202038	single nucleotide variant	NM_003128.3(SPTBN1):c.4324C>T (p.Gln1442Ter)	SPTBN1-related disorder [RCV003911520]	uncertain significance	2	54645283	54645283	Human		name , trait , alternate_id
405291423	CV3222404	single nucleotide variant	NM_003128.3(SPTBN1):c.5474A>G (p.His1825Arg)	See cases [RCV003985712]	uncertain significance	2	54649886	54649886	Human		name
405708864	CV3225506	single nucleotide variant	NM_003128.3(SPTBN1):c.6988C>T (p.Pro2330Ser)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003990562]	uncertain significance	2	54668462	54668462	Human	1	name
405711607	CV3225867	single nucleotide variant	NM_003128.3(SPTBN1):c.3278C>G (p.Thr1093Ser)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003990926]	uncertain significance	2	54631325	54631325	Human	1	name
405711598	CV3225868	single nucleotide variant	NM_003128.3(SPTBN1):c.4805C>G (p.Ala1602Gly)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003990927]	uncertain significance	2	54646414	54646414	Human	1	name
405699723	CV3227229	single nucleotide variant	NM_003128.3(SPTBN1):c.6599T>G (p.Met2200Arg)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003993580]	uncertain significance	2	54664631	54664631	Human	1	name
405654763	CV3228325	single nucleotide variant	NM_003128.3(SPTBN1):c.4861G>A (p.Ala1621Thr)	not specified [RCV003995060]	uncertain significance	2	54646470	54646470	Human		name
405776448	CV3334015	single nucleotide variant	NM_003128.3(SPTBN1):c.3842T>C (p.Leu1281Pro)	Inborn genetic diseases [RCV004457894]	uncertain significance	2	54637787	54637787	Human	1	name
405776454	CV3334016	single nucleotide variant	NM_003128.3(SPTBN1):c.3863C>G (p.Ser1288Cys)	Inborn genetic diseases [RCV004457895]	uncertain significance	2	54642987	54642987	Human	1	name
405776460	CV3334017	single nucleotide variant	NM_003128.3(SPTBN1):c.4201A>G (p.Ser1401Gly)	Inborn genetic diseases [RCV004457896]	likely benign	2	54644518	54644518	Human	1	name
405776466	CV3334018	single nucleotide variant	NM_003128.3(SPTBN1):c.4272G>T (p.Met1424Ile)	Inborn genetic diseases [RCV004457897]	likely benign	2	54645231	54645231	Human	1	name
405776472	CV3334019	single nucleotide variant	NM_003128.3(SPTBN1):c.4458G>T (p.Glu1486Asp)	Inborn genetic diseases [RCV004457898]	uncertain significance	2	54645417	54645417	Human	1	name
405776479	CV3334020	single nucleotide variant	NM_003128.3(SPTBN1):c.5143G>A (p.Ala1715Thr)	Inborn genetic diseases [RCV004457899]	uncertain significance	2	54649131	54649131	Human	1	name
405776485	CV3334021	single nucleotide variant	NM_003128.3(SPTBN1):c.5329G>A (p.Ala1777Thr)	Inborn genetic diseases [RCV004457900]	uncertain significance	2	54649741	54649741	Human	1	name
405776490	CV3334022	single nucleotide variant	NM_003128.3(SPTBN1):c.5351A>G (p.Asn1784Ser)	Inborn genetic diseases [RCV004457901]	likely benign	2	54649763	54649763	Human	1	name
405776502	CV3334024	single nucleotide variant	NM_003128.3(SPTBN1):c.5465A>G (p.Gln1822Arg)	Inborn genetic diseases [RCV004457903]	uncertain significance	2	54649877	54649877	Human	1	name
405776506	CV3334025	single nucleotide variant	NM_003128.3(SPTBN1):c.5468A>G (p.Asp1823Gly)	Inborn genetic diseases [RCV004457904]	uncertain significance	2	54649880	54649880	Human	1	name
405776513	CV3334026	single nucleotide variant	NM_003128.3(SPTBN1):c.5557A>G (p.Ile1853Val)	Inborn genetic diseases [RCV004457905]	uncertain significance	2	54649969	54649969	Human	1	name
405776518	CV3334027	single nucleotide variant	NM_003128.3(SPTBN1):c.5605C>T (p.Arg1869Cys)	Inborn genetic diseases [RCV004457906]	uncertain significance	2	54653636	54653636	Human	1	name
405776524	CV3334028	single nucleotide variant	NM_003128.3(SPTBN1):c.5695G>A (p.Ala1899Thr)	Inborn genetic diseases [RCV004457907]	uncertain significance	2	54653726	54653726	Human	1	name
405776531	CV3334029	single nucleotide variant	NM_003128.3(SPTBN1):c.5911A>G (p.Ile1971Val)	Inborn genetic diseases [RCV004457908]	uncertain significance	2	54655158	54655158	Human	1	name
405776543	CV3334031	single nucleotide variant	NM_003128.3(SPTBN1):c.6343T>A (p.Ser2115Thr)	Inborn genetic diseases [RCV004457910]	uncertain significance	2	54659253	54659253	Human	1	name
405776549	CV3334032	single nucleotide variant	NM_003128.3(SPTBN1):c.6350A>C (p.Gln2117Pro)	Inborn genetic diseases [RCV004457911]	uncertain significance	2	54659260	54659260	Human	1	name
405776560	CV3334034	single nucleotide variant	NM_003128.3(SPTBN1):c.6640A>T (p.Asn2214Tyr)	Inborn genetic diseases [RCV004457913]	uncertain significance	2	54664672	54664672	Human	1	name
405853362	CV3392690	single nucleotide variant	NM_003128.3(SPTBN1):c.4652T>C (p.Ile1551Thr)	not specified [RCV004526415]	uncertain significance	2	54646261	54646261	Human		name
405855076	CV3395673	single nucleotide variant	NM_003128.3(SPTBN1):c.4172A>G (p.Asp1391Gly)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004555936]	uncertain significance	2	54644489	54644489	Human	1	name
405866628	CV3401033	single nucleotide variant	NM_003128.3(SPTBN1):c.7012A>G (p.Ser2338Gly)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004577149]	uncertain significance	2	54668486	54668486	Human	1	name
405866725	CV3401133	single nucleotide variant	NM_003128.3(SPTBN1):c.4850C>T (p.Ser1617Leu)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004577249]	uncertain significance	2	54646459	54646459	Human	1	name
407428105	CV3410065	single nucleotide variant	NM_003128.3(SPTBN1):c.4712A>G (p.Lys1571Arg)	not specified [RCV004587673]	uncertain significance	2	54646321	54646321	Human		name
407429302	CV3413689	single nucleotide variant	NM_003128.3(SPTBN1):c.3260C>T (p.Ser1087Leu)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004595098]	uncertain significance	2	54631307	54631307	Human	1	name
407488853	CV3415149	single nucleotide variant	NM_003128.3(SPTBN1):c.6277G>T (p.Glu2093Ter)	not provided [RCV004597485]	likely pathogenic	2	54659187	54659187	Human		name
407455790	CV3415746	single nucleotide variant	NM_003128.3(SPTBN1):c.6997G>A (p.Val2333Ile)	not provided [RCV004598622]	likely benign	2	54668471	54668471	Human		name
407525774	CV3478066	single nucleotide variant	NM_003128.3(SPTBN1):c.6295C>T (p.Arg2099Trp)	Inborn genetic diseases [RCV004679418]	uncertain significance	2	54659205	54659205	Human	1	name
407525776	CV3478067	single nucleotide variant	NM_003128.3(SPTBN1):c.5905A>G (p.Thr1969Ala)	Inborn genetic diseases [RCV004679419]	uncertain significance	2	54655152	54655152	Human	1	name
407516557	CV3478068	single nucleotide variant	NM_003128.3(SPTBN1):c.7000G>A (p.Val2334Ile)	Inborn genetic diseases [RCV004675199]	likely benign	2	54668474	54668474	Human	1	name
407516153	CV3478070	single nucleotide variant	NM_003128.3(SPTBN1):c.4676G>T (p.Ser1559Ile)	Inborn genetic diseases [RCV004675201]	likely benign	2	54646285	54646285	Human	1	name
407516156	CV3478071	single nucleotide variant	NM_003128.3(SPTBN1):c.3697C>T (p.Arg1233Trp)	Inborn genetic diseases [RCV004675202]	uncertain significance	2	54632698	54632698	Human	1	name
407525778	CV3478072	single nucleotide variant	NM_003128.3(SPTBN1):c.4939A>G (p.Thr1647Ala)	Inborn genetic diseases [RCV004679420]	uncertain significance	2	54647203	54647203	Human	1	name
407516159	CV3478074	single nucleotide variant	NM_003128.3(SPTBN1):c.6790G>A (p.Val2264Met)	Inborn genetic diseases [RCV004675204]	uncertain significance	2	54666045	54666045	Human	1	name
407516164	CV3478076	single nucleotide variant	NM_003128.3(SPTBN1):c.6100C>T (p.Leu2034Phe)	Inborn genetic diseases [RCV004675206]	uncertain significance	2	54657903	54657903	Human	1	name
407572781	CV3497273	single nucleotide variant	NM_003128.3(SPTBN1):c.4582C>T (p.Gln1528Ter)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004699093]	likely pathogenic	2	54646015	54646015	Human	1	name
408368469	CV3500653	single nucleotide variant	NM_003128.3(SPTBN1):c.6316A>G (p.Ser2106Gly)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004723727]	uncertain significance	2	54659226	54659226	Human	1	name
408379821	CV3501058	single nucleotide variant	NM_003128.3(SPTBN1):c.3422G>A (p.Arg1141Gln)	not provided [RCV004722708]	uncertain significance	2	54631469	54631469	Human		name
408370356	CV3503042	single nucleotide variant	NM_003128.3(SPTBN1):c.5290G>A (p.Glu1764Lys)	not provided [RCV004724163]	uncertain significance	2	54649702	54649702	Human		name
408371306	CV3503759	single nucleotide variant	NM_003128.3(SPTBN1):c.6803A>G (p.Tyr2268Cys)	SPTBN1-related disorder [RCV004724630]	uncertain significance	2	54666058	54666058	Human		name , trait , alternate_id
408371229	CV3504888	single nucleotide variant	NM_003128.3(SPTBN1):c.6355T>C (p.Trp2119Arg)	SPTBN1-related disorder [RCV004724512]	uncertain significance	2	54659265	54659265	Human		name , trait , alternate_id
408378477	CV3505121	single nucleotide variant	NM_003128.3(SPTBN1):c.6050T>C (p.Leu2017Pro)	SPTBN1-related disorder [RCV004727883]	uncertain significance	2	54657853	54657853	Human		name , trait , alternate_id
408382863	CV3506033	single nucleotide variant	NM_003128.3(SPTBN1):c.5150G>C (p.Arg1717Thr)	SPTBN1-related disorder [RCV004730169]	uncertain significance	2	54649138	54649138	Human		name , trait , alternate_id
408369225	CV3507955	single nucleotide variant	NM_003128.3(SPTBN1):c.5381T>C (p.Ile1794Thr)	Inborn genetic diseases [RCV004968608]\|SPTBN1-related disorder [RCV004736743]	likely benign	2	54649793	54649793	Human	2	name , trait , alternate_id
408369814	CV3516861	single nucleotide variant	NM_003128.3(SPTBN1):c.6551G>A (p.Ser2184Asn)	SPTBN1-related disorder [RCV004737727]	uncertain significance	2	54664583	54664583	Human		name , trait , alternate_id
408385296	CV3520101	single nucleotide variant	NM_003128.3(SPTBN1):c.4825A>C (p.Ser1609Arg)	not provided [RCV004759922]	uncertain significance	2	54646434	54646434	Human		name
408388005	CV3520591	single nucleotide variant	NM_003128.3(SPTBN1):c.5927C>G (p.Ser1976Cys)	not provided [RCV004761423]	uncertain significance	2	54655174	54655174	Human		name
408390141	CV3524945	single nucleotide variant	NM_003128.3(SPTBN1):c.5802C>G (p.Ile1934Met)	not provided [RCV004769840]	uncertain significance	2	54653833	54653833	Human		name
408388675	CV3529085	single nucleotide variant	NM_003128.3(SPTBN1):c.4160A>G (p.Gln1387Arg)	not provided [RCV004773907]	uncertain significance	2	54644477	54644477	Human		name
596931049	CV3529892	single nucleotide variant	NM_003128.3(SPTBN1):c.5779A>G (p.Met1927Val)	not provided [RCV004780942]	uncertain significance	2	54653810	54653810	Human		name
596931173	CV3531506	single nucleotide variant	NM_003128.3(SPTBN1):c.3755C>T (p.Ser1252Phe)	not provided [RCV004781068]	uncertain significance	2	54632756	54632756	Human		name
596931309	CV3531644	single nucleotide variant	NM_003128.3(SPTBN1):c.5393C>T (p.Thr1798Ile)	not provided [RCV004781206]	uncertain significance	2	54649805	54649805	Human		name
596931452	CV3531788	single nucleotide variant	NM_003128.3(SPTBN1):c.4559T>C (p.Val1520Ala)	not provided [RCV004781350]	uncertain significance	2	54645992	54645992	Human		name
596931508	CV3531852	single nucleotide variant	NM_003128.3(SPTBN1):c.3863C>T (p.Ser1288Phe)	not provided [RCV004781414]	uncertain significance	2	54642987	54642987	Human		name
596920583	CV3534057	single nucleotide variant	NM_003128.3(SPTBN1):c.4354A>G (p.Ser1452Gly)	not specified [RCV004783275]	uncertain significance	2	54645313	54645313	Human		name
596920896	CV3534368	single nucleotide variant	NM_003128.3(SPTBN1):c.5311T>G (p.Ser1771Ala)	not specified [RCV004783587]	uncertain significance	2	54649723	54649723	Human		name
596921379	CV3535001	single nucleotide variant	NM_003128.3(SPTBN1):c.6335A>C (p.Glu2112Ala)	not provided [RCV004784559]	uncertain significance	2	54659245	54659245	Human		name
596921758	CV3535384	single nucleotide variant	NM_003128.3(SPTBN1):c.3712G>A (p.Asp1238Asn)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004784939]	uncertain significance	2	54632713	54632713	Human	1	name
596921764	CV3535390	single nucleotide variant	NM_003128.3(SPTBN1):c.5184G>C (p.Gln1728His)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004784945]	uncertain significance	2	54649172	54649172	Human	1	name
596921846	CV3535473	single nucleotide variant	NM_003128.3(SPTBN1):c.5852A>G (p.Asn1951Ser)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004785028]	uncertain significance	2	54655099	54655099	Human	1	name
596921875	CV3535503	single nucleotide variant	NM_003128.3(SPTBN1):c.6746A>T (p.Tyr2249Phe)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004785058]	uncertain significance	2	54666001	54666001	Human	1	name
596922005	CV3535634	single nucleotide variant	NM_003128.3(SPTBN1):c.3782G>A (p.Arg1261His)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004785189]	uncertain significance	2	54637727	54637727	Human	1	name
596926281	CV3536193	single nucleotide variant	NM_003128.3(SPTBN1):c.5455G>A (p.Gly1819Arg)	Developmental delay, impaired speech, and behavioral abnormalities [RCV004788623]	uncertain significance	2	54649867	54649867	Human	1	name
596922299	CV3537097	single nucleotide variant	NM_003128.3(SPTBN1):c.5788G>A (p.Val1930Ile)	not provided [RCV004786092]	uncertain significance	2	54653819	54653819	Human		name
596945084	CV3543708	single nucleotide variant	NM_003128.3(SPTBN1):c.6481T>C (p.Ser2161Pro)	not provided [RCV004801830]	uncertain significance	2	54664513	54664513	Human		name
596941802	CV3543799	single nucleotide variant	NM_003128.3(SPTBN1):c.3761A>G (p.Asp1254Gly)	not provided [RCV004799787]	uncertain significance	2	54632762	54632762	Human		name
596941768	CV3543854	single nucleotide variant	NM_003128.3(SPTBN1):c.2998G>A (p.Gly1000Ser)	not specified [RCV004799843]	uncertain significance	2	54631045	54631045	Human		name
596942142	CV3543994	single nucleotide variant	NM_003128.3(SPTBN1):c.3092A>C (p.Gln1031Pro)	not specified [RCV004799984]	uncertain significance	2	54631139	54631139	Human		name
596938833	CV3549849	single nucleotide variant	NM_003128.3(SPTBN1):c.5320G>A (p.Ala1774Thr)	not provided [RCV004812890]	uncertain significance	2	54649732	54649732	Human		name
597632091	CV3552777	single nucleotide variant	NM_003128.3(SPTBN1):c.5495T>C (p.Leu1832Pro)	not provided [RCV004823605]	uncertain significance	2	54649907	54649907	Human		name
597632240	CV3552806	single nucleotide variant	NM_003128.3(SPTBN1):c.3868T>G (p.Trp1290Gly)	not provided [RCV004823634]	uncertain significance	2	54642992	54642992	Human		name
597731998	CV3604101	single nucleotide variant	NM_003128.3(SPTBN1):c.5014C>T (p.Arg1672Trp)	Inborn genetic diseases [RCV004964150]	uncertain significance	2	54649002	54649002	Human	1	name
597732014	CV3604103	single nucleotide variant	NM_003128.3(SPTBN1):c.4330C>G (p.Gln1444Glu)	Inborn genetic diseases [RCV004964152]	uncertain significance	2	54645289	54645289	Human	1	name
597732030	CV3604106	single nucleotide variant	NM_003128.3(SPTBN1):c.6419G>T (p.Arg2140Leu)	Inborn genetic diseases [RCV004964155]	uncertain significance	2	54659998	54659998	Human	1	name
597732039	CV3604107	single nucleotide variant	NM_003128.3(SPTBN1):c.3281T>C (p.Leu1094Pro)	Inborn genetic diseases [RCV004964156]	uncertain significance	2	54631328	54631328	Human	1	name
597732048	CV3604108	single nucleotide variant	NM_003128.3(SPTBN1):c.5814G>T (p.Glu1938Asp)	Inborn genetic diseases [RCV004964157]	uncertain significance	2	54653845	54653845	Human	1	name
597732053	CV3604109	single nucleotide variant	NM_003128.3(SPTBN1):c.6431C>T (p.Thr2144Met)	Inborn genetic diseases [RCV004964158]	uncertain significance	2	54664463	54664463	Human	1	name
597732059	CV3604110	single nucleotide variant	NM_003128.3(SPTBN1):c.6509C>T (p.Pro2170Leu)	Inborn genetic diseases [RCV004964159]	uncertain significance	2	54664541	54664541	Human	1	name
597732065	CV3604111	single nucleotide variant	NM_003128.3(SPTBN1):c.4981G>A (p.Asp1661Asn)	Inborn genetic diseases [RCV004964160]	uncertain significance	2	54647245	54647245	Human	1	name
597732079	CV3604113	single nucleotide variant	NM_003128.3(SPTBN1):c.5341G>T (p.Asp1781Tyr)	Inborn genetic diseases [RCV004964162]	uncertain significance	2	54649753	54649753	Human	1	name
597732092	CV3604115	single nucleotide variant	NM_003128.3(SPTBN1):c.5003G>A (p.Arg1668His)	Inborn genetic diseases [RCV004964164]	uncertain significance	2	54648991	54648991	Human	1	name
597732104	CV3604117	single nucleotide variant	NM_003128.3(SPTBN1):c.4439A>G (p.Asn1480Ser)	Inborn genetic diseases [RCV004964166]	uncertain significance	2	54645398	54645398	Human	1	name
597732112	CV3604118	single nucleotide variant	NM_003128.3(SPTBN1):c.3544G>A (p.Glu1182Lys)	Inborn genetic diseases [RCV004964167]	uncertain significance	2	54631591	54631591	Human	1	name
597732118	CV3604119	single nucleotide variant	NM_003128.3(SPTBN1):c.5744G>A (p.Arg1915His)	Inborn genetic diseases [RCV004964168]	uncertain significance	2	54653775	54653775	Human	1	name
597732140	CV3604122	single nucleotide variant	NM_003128.3(SPTBN1):c.4067C>T (p.Thr1356Ile)	Inborn genetic diseases [RCV004964171]	uncertain significance	2	54644384	54644384	Human	1	name
597732147	CV3604123	single nucleotide variant	NM_003128.3(SPTBN1):c.5615C>T (p.Ala1872Val)	Inborn genetic diseases [RCV004964172]	uncertain significance	2	54653646	54653646	Human	1	name
597732161	CV3604125	single nucleotide variant	NM_003128.3(SPTBN1):c.5326A>G (p.Ile1776Val)	Inborn genetic diseases [RCV004964175]	uncertain significance	2	54649738	54649738	Human	1	name
597732166	CV3604126	single nucleotide variant	NM_003128.3(SPTBN1):c.3082G>A (p.Asp1028Asn)	Inborn genetic diseases [RCV004964176]	uncertain significance	2	54631129	54631129	Human	1	name
597732187	CV3604129	single nucleotide variant	NM_003128.3(SPTBN1):c.5888G>A (p.Arg1963His)	Inborn genetic diseases [RCV004964179]	uncertain significance	2	54655135	54655135	Human	1	name
597732201	CV3604131	single nucleotide variant	NM_003128.3(SPTBN1):c.5209C>A (p.Gln1737Lys)	Inborn genetic diseases [RCV004964181]	uncertain significance	2	54649621	54649621	Human	1	name
597732209	CV3604132	single nucleotide variant	NM_003128.3(SPTBN1):c.5161G>T (p.Ala1721Ser)	Inborn genetic diseases [RCV004964182]	uncertain significance	2	54649149	54649149	Human	1	name
597648979	CV3713523	single nucleotide variant	NM_003128.3(SPTBN1):c.5794C>T (p.Arg1932Trp)	Developmental delay, impaired speech, and behavioral abnormalities [RCV005026623]	uncertain significance	2	54653825	54653825	Human	1	name
597648996	CV3713524	single nucleotide variant	NM_003128.3(SPTBN1):c.6752G>C (p.Ser2251Thr)	Developmental delay, impaired speech, and behavioral abnormalities [RCV005026625]	uncertain significance	2	54666007	54666007	Human	1	name
597664816	CV3732562	single nucleotide variant	NM_003128.3(SPTBN1):c.3238A>G (p.Arg1080Gly)	not provided [RCV005004031]	uncertain significance	2	54631285	54631285	Human		name
597833648	CV3735045	single nucleotide variant	NM_003128.3(SPTBN1):c.4286T>C (p.Met1429Thr)	not provided [RCV005054778]	uncertain significance	2	54645245	54645245	Human		name
597911170	CV3778224	single nucleotide variant	NM_003128.3(SPTBN1):c.5879T>C (p.Ile1960Thr)	not provided [RCV005128763]	uncertain significance	2	54655126	54655126	Human		name
597968896	CV3791141	single nucleotide variant	NM_003128.3(SPTBN1):c.3816G>C (p.Lys1272Asn)	not provided [RCV005141173]	uncertain significance	2	54637761	54637761	Human		name
597974957	CV3798644	single nucleotide variant	NM_003128.3(SPTBN1):c.5027T>G (p.Val1676Gly)	not provided [RCV005144232]	uncertain significance	2	54649015	54649015	Human		name
597953032	CV3798882	single nucleotide variant	NM_003128.3(SPTBN1):c.6063G>C (p.Gln2021His)	not provided [RCV005136456]	uncertain significance	2	54657866	54657866	Human		name
597925752	CV3863538	single nucleotide variant	NM_003128.3(SPTBN1):c.5354A>T (p.Glu1785Val)	not provided [RCV005205863]	uncertain significance	2	54649766	54649766	Human		name
597845470	CV3880436	single nucleotide variant	NM_003128.3(SPTBN1):c.5402T>G (p.Leu1801Arg)	not provided [RCV005227324]	uncertain significance	2	54649814	54649814	Human		name
598124701	CV3883647	single nucleotide variant	NM_003128.3(SPTBN1):c.5735A>G (p.Asp1912Gly)	not provided [RCV005236001]	uncertain significance	2	54653766	54653766	Human		name
598128236	CV3887434	single nucleotide variant	NM_003128.3(SPTBN1):c.3360G>T (p.Lys1120Asn)	not provided [RCV005243607]	uncertain significance	2	54631407	54631407	Human		name
598122815	CV3889965	single nucleotide variant	NM_003128.3(SPTBN1):c.4303G>T (p.Glu1435Ter)	Developmental delay, impaired speech, and behavioral abnormalities [RCV005250484]	likely pathogenic	2	54645262	54645262	Human	1	name
598123597	CV3890403	single nucleotide variant	NM_003128.3(SPTBN1):c.3494T>C (p.Leu1165Pro)	not provided [RCV005250922]	uncertain significance	2	54631541	54631541	Human		name
598202269	CV3892859	single nucleotide variant	NM_003128.3(SPTBN1):c.6989C>T (p.Pro2330Leu)	not provided [RCV005255189]	uncertain significance	2	54668463	54668463	Human		name
598235079	CV3893570	single nucleotide variant	NM_003128.3(SPTBN1):c.5103C>A (p.Phe1701Leu)	not provided [RCV005256303]	uncertain significance	2	54649091	54649091	Human		name
598227527	CV3894518	single nucleotide variant	NM_003128.3(SPTBN1):c.3784G>C (p.Glu1262Gln)	not provided [RCV005257761]	uncertain significance	2	54637729	54637729	Human		name
598239358	CV3915722	single nucleotide variant	NM_003128.3(SPTBN1):c.6973C>T (p.Arg2325Cys)	Inborn genetic diseases [RCV005275999]\|not provided [RCV005412752]	uncertain significance	2	54668447	54668447	Human	1	name
598272867	CV3915724	single nucleotide variant	NM_003128.3(SPTBN1):c.6310G>A (p.Glu2104Lys)	Inborn genetic diseases [RCV005282741]	uncertain significance	2	54659220	54659220	Human	1	name
598272870	CV3915726	single nucleotide variant	NM_003128.3(SPTBN1):c.4990C>G (p.Pro1664Ala)	Inborn genetic diseases [RCV005282742]	uncertain significance	2	54647254	54647254	Human	1	name
598272872	CV3915727	single nucleotide variant	NM_003128.3(SPTBN1):c.7017G>C (p.Glu2339Asp)	Inborn genetic diseases [RCV005282743]	uncertain significance	2	54668491	54668491	Human	1	name
598272875	CV3915728	single nucleotide variant	NM_003128.3(SPTBN1):c.6118C>G (p.Leu2040Val)	Inborn genetic diseases [RCV005282744]	uncertain significance	2	54657921	54657921	Human	1	name
598272881	CV3915730	single nucleotide variant	NM_003128.3(SPTBN1):c.4260A>C (p.Lys1420Asn)	Inborn genetic diseases [RCV005282746]	uncertain significance	2	54644577	54644577	Human	1	name
598272882	CV3915731	single nucleotide variant	NM_003128.3(SPTBN1):c.3059A>C (p.Glu1020Ala)	Inborn genetic diseases [RCV005282747]	uncertain significance	2	54631106	54631106	Human	1	name
598272892	CV3915734	single nucleotide variant	NM_003128.3(SPTBN1):c.6787G>A (p.Glu2263Lys)	Inborn genetic diseases [RCV005282750]	uncertain significance	2	54666042	54666042	Human	1	name
598272895	CV3915735	single nucleotide variant	NM_003128.3(SPTBN1):c.3148A>G (p.Thr1050Ala)	Inborn genetic diseases [RCV005282751]	uncertain significance	2	54631195	54631195	Human	1	name
598272898	CV3915737	single nucleotide variant	NM_003128.3(SPTBN1):c.6781G>C (p.Val2261Leu)	Inborn genetic diseases [RCV005282753]	uncertain significance	2	54666036	54666036	Human	1	name
616936631	CV4009562	single nucleotide variant	NM_003128.3(SPTBN1):c.3256G>A (p.Ala1086Thr)	SPTBN1-related neurodevelopmental disease [RCV005417526]	likely pathogenic	2	54631303	54631303	Human		name , trait , alternate_id
616938429	CV4012939	single nucleotide variant	NM_003128.3(SPTBN1):c.4147G>A (p.Glu1383Lys)	not provided [RCV005410404]	uncertain significance	2	54644464	54644464	Human		name
616939077	CV4015405	single nucleotide variant	NM_003128.3(SPTBN1):c.5233C>T (p.Arg1745Ter)	not provided [RCV005412916]	pathogenic	2	54649645	54649645	Human		name
616935714	CV4016192	single nucleotide variant	NM_003128.3(SPTBN1):c.5522C>T (p.Thr1841Ile)	not provided [RCV005415058]	uncertain significance	2	54649934	54649934	Human		name
616936259	CV4016264	single nucleotide variant	NM_003128.3(SPTBN1):c.4412T>C (p.Leu1471Pro)	not provided [RCV005415130]	uncertain significance	2	54645371	54645371	Human		name
616936373	CV4016402	single nucleotide variant	NM_003128.3(SPTBN1):c.4657A>G (p.Thr1553Ala)	not provided [RCV005415268]	uncertain significance	2	54646266	54646266	Human		name
21066976	CV795255	single nucleotide variant	NM_003128.3(SPTBN1):c.3107G>A (p.Arg1036Gln)	not provided [RCV000997145]	uncertain significance	2	54631154	54631154	Human		name
40889578	CV972637	single nucleotide variant	NM_003128.3(SPTBN1):c.5216G>A (p.Arg1739Gln)	Neurodevelopmental abnormality [RCV001264660]	likely benign	2	54649628	54649628	Human	2	name
40903651	CV975943	single nucleotide variant	NM_003128.3(SPTBN1):c.5641G>A (p.Asp1881Asn)	Moderate global developmental delay [RCV001269402]	uncertain significance	2	54653672	54653672	Human	1	name
150528967	CV1307469	microsatellite	NM_003128.3(SPTBN1):c.543GTG[1] (p.Trp182del)	not provided [RCV001755606]	pathogenic\|uncertain significance	2	54616275	54616277	Human		name
407516162	CV3478075	insertion	NM_003128.3(SPTBN1):c.968_969insA (p.Ile324fs)	Inborn genetic diseases [RCV004675205]	pathogenic	2	54622391	54622392	Human	1	name
151232619	CV1317206	deletion	NM_003128.3(SPTBN1):c.2275_2285del (p.Trp759fs)	Intellectual disability, autosomal recessive 53 [RCV001787027]	pathogenic	2	54629409	54629419	Human	3	name
152979396	CV1675535	duplication	NM_003128.3(SPTBN1):c.3510_3529dup (p.Asp1177fs)	Developmental delay, impaired speech, and behavioral abnormalities [RCV002244125]	likely pathogenic	2	54631556	54631557	Human	1	name
155927640	CV2391457	deletion	NM_003128.3(SPTBN1):c.4341_4344del (p.Ser1447fs)	Inborn genetic diseases [RCV002773853]	pathogenic	2	54645298	54645301	Human	1	name
243052476	CV2404394	deletion	NM_003128.3(SPTBN1):c.5730_5731del (p.Asp1912fs)	Inborn genetic diseases [RCV004673841]\|not provided [RCV003129420]	pathogenic\|likely pathogenic	2	54653761	54653762	Human	1	name
401867661	CV2749012	deletion	NM_003128.3(SPTBN1):c.5304_5305del (p.Gly1769fs)	Developmental delay, impaired speech, and behavioral abnormalities [RCV003331836]	pathogenic	2	54649716	54649717	Human	1	name
408385587	CV3528581	deletion	NM_003128.3(SPTBN1):c.6904_6905del (p.Ile2302fs)	not provided [RCV004772414]	uncertain significance	2	54668377	54668378	Human		name
596939011	CV3549949	deletion	NM_003128.3(SPTBN1):c.7058_7059del (p.Lys2353fs)	not provided [RCV004812990]	uncertain significance	2	54668531	54668532	Human		name
596922878	CV3530144	deletion	NM_003128.3(SPTBN1):c.6645_6647del (p.Lys2216del)	not provided [RCV004776743]	uncertain significance	2	54664675	54664677	Human		name
155644764	CV1710382	indel	NM_003128.3(SPTBN1):c.160_161delinsTG (p.Ala54Cys)	not provided [RCV002293678]	uncertain significance	2	54599103	54599104	Human		name
617150922	CV4021983	indel	NM_003128.3(SPTBN1):c.2497_2498delinsTT (p.Glu833Leu)	not provided [RCV005426944]	uncertain significance	2	54629631	54629632	Human		name
40904293	CV976699	indel	NM_003128.3(SPTBN1):c.567-2_584delinsTTTTCCCTTCTGCTTTG	Autistic behavior [RCV001270438]	uncertain significance	2	54617606	54617625	Human		name
598125344	CV3883946	deletion	NM_003128.3(SPTBN1):c.7056_7061del (p.Asp2352_Lys2353del)	not provided [RCV005236301]	uncertain significance	2	54668525	54668530	Human		name

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