Srr Variant Search Result - Rat Genome Database

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1001 records found for search term Srr

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
155909014	CV2307194	single nucleotide variant	NM_021947.3(SRR):c.145T>C (p.Phe49Leu)	not specified [RCV004159661]	uncertain significance	17	2315705	2315705	Human		name
156327935	CV2332176	single nucleotide variant	NM_021947.3(SRR):c.173G>C (p.Arg58Pro)	not specified [RCV004189212]	uncertain significance	17	2317874	2317874	Human		name
329371678	CV2442823	single nucleotide variant	NM_021947.3(SRR):c.109C>G (p.Leu37Val)	not specified [RCV004253439]	likely benign	17	2315669	2315669	Human		name
405701857	CV3330665	single nucleotide variant	NM_021947.3(SRR):c.173G>A (p.Arg58His)	not specified [RCV004460505]	uncertain significance	17	2317874	2317874	Human		name
155965821	CV2261842	single nucleotide variant	NM_021947.3(SRR):c.734G>A (p.Gly245Asp)	not specified [RCV004126112]	uncertain significance	17	2323275	2323275	Human		name
156279456	CV2325268	single nucleotide variant	NM_021947.3(SRR):c.886C>G (p.Gln296Glu)	not specified [RCV004177665]	uncertain significance	17	2323736	2323736	Human		name
155975060	CV2342624	single nucleotide variant	NM_021947.3(SRR):c.578T>C (p.Ile193Thr)	not specified [RCV004196711]	uncertain significance	17	2321600	2321600	Human		name
156282474	CV2348860	single nucleotide variant	NM_021947.3(SRR):c.901G>A (p.Val301Ile)	not specified [RCV004203299]	uncertain significance	17	2323751	2323751	Human		name
155924778	CV2358210	single nucleotide variant	NM_021947.3(SRR):c.773A>G (p.Asp258Gly)	not specified [RCV004212006]	uncertain significance	17	2323314	2323314	Human		name
329394222	CV2450187	single nucleotide variant	NM_021947.3(SRR):c.670G>A (p.Gly224Arg)	not specified [RCV004271005]	uncertain significance	17	2323211	2323211	Human		name
401894471	CV2788164	single nucleotide variant	NM_021947.3(SRR):c.888A>C (p.Gln296His)	not specified [RCV004352782]	uncertain significance	17	2323738	2323738	Human		name
405701862	CV3330666	single nucleotide variant	NM_021947.3(SRR):c.353T>C (p.Ile118Thr)	not specified [RCV004460506]	uncertain significance	17	2318883	2318883	Human		name
405701869	CV3330667	single nucleotide variant	NM_021947.3(SRR):c.499G>A (p.Ala167Thr)	not specified [RCV004460507]	uncertain significance	17	2321405	2321405	Human		name
405701877	CV3330668	single nucleotide variant	NM_021947.3(SRR):c.575G>C (p.Gly192Ala)	not specified [RCV004460508]	uncertain significance	17	2321597	2321597	Human		name
405701885	CV3330669	single nucleotide variant	NM_021947.3(SRR):c.620A>G (p.Tyr207Cys)	not specified [RCV004460509]	uncertain significance	17	2323161	2323161	Human		name
407487442	CV3474811	single nucleotide variant	NM_021947.3(SRR):c.776T>A (p.Ile259Asn)	not specified [RCV004675384]	uncertain significance	17	2323317	2323317	Human		name
597680930	CV3611541	single nucleotide variant	NM_021947.3(SRR):c.908C>T (p.Pro303Leu)	not specified [RCV004857472]	uncertain significance	17	2323758	2323758	Human		name
597779288	CV3611543	single nucleotide variant	NM_021947.3(SRR):c.898A>G (p.Thr300Ala)	not specified [RCV004873500]	uncertain significance	17	2323748	2323748	Human		name
597680940	CV3611544	single nucleotide variant	NM_021947.3(SRR):c.520G>T (p.Val174Phe)	not specified [RCV004857473]	uncertain significance	17	2321542	2321542	Human		name
598173261	CV3912325	single nucleotide variant	NM_021947.3(SRR):c.769G>A (p.Asp257Asn)	not specified [RCV005285150]	uncertain significance	17	2323310	2323310	Human		name
598173268	CV3912326	single nucleotide variant	NM_021947.3(SRR):c.971C>G (p.Thr324Ser)	not specified [RCV005285151]	uncertain significance	17	2323821	2323821	Human		name
598173275	CV3912327	single nucleotide variant	NM_021947.3(SRR):c.605C>T (p.Pro202Leu)	not specified [RCV005285152]	uncertain significance	17	2323146	2323146	Human		name
329387515	CV2436520	single nucleotide variant	NM_021947.3(SRR):c.1010C>T (p.Ser337Phe)	not specified [RCV004251891]	uncertain significance	17	2323860	2323860	Human		name
407574335	CV3498684	single nucleotide variant	NM_016333.4(SRRM2):c.*91C>T	not specified [RCV004703160]	uncertain significance	16	2770958	2770958	Human		name
407573421	CV3499199	single nucleotide variant	NM_016333.4(SRRM2):c.*123T>C	not specified [RCV004701092]	uncertain significance	16	2770990	2770990	Human		name
408381423	CV3501891	single nucleotide variant	NM_016333.4(SRRM2):c.657-1G>C	not provided [RCV004729419]	pathogenic	16	2759139	2759139	Human		name
13524165	CV486088	single nucleotide variant	NM_194286.4(SRRM4):c.464+2T>C	not provided [RCV000584974]	uncertain significance	12	119120278	119120278	Human		name
15176014	CV777597	single nucleotide variant	NM_015908.6(SRRT):c.2556-9A>T	not provided [RCV000950725]	benign	7	100888465	100888465	Human		name
15197605	CV777666	single nucleotide variant	NM_015908.6(SRRT):c.1042-7C>T	not provided [RCV000956512]	benign	7	100884916	100884916	Human		name
150484883	CV1250115	single nucleotide variant	NM_015908.6(SRRT):c.1042-18C>G	not provided [RCV001673728]	benign	7	100884905	100884905	Human	4	name
150484883	CV1250115	single nucleotide variant	NM_015908.6(SRRT):c.1042-18C>G	not provided [RCV001673728]	benign	7	100884905	100884906	Human	4	name
407427434	CV3410437	single nucleotide variant	NM_016333.4(SRRM2):c.656+15T>C	not specified [RCV004586084]	likely benign	16	2759062	2759062	Human		name
407572757	CV3497249	single nucleotide variant	NM_016333.4(SRRM2):c.1032+5G>T	not provided [RCV004699069]	uncertain significance	16	2760504	2760504	Human		name
408380263	CV3513090	single nucleotide variant	NM_016333.4(SRRM2):c.8136-1G>T	SRRM2-related disorder [RCV004754066]	uncertain significance	16	2770603	2770603	Human		name , trait , alternate_id
404985940	CV2852387	single nucleotide variant	NM_016333.4(SRRM2):c.8250-12C>G	not specified [RCV003489623]	likely benign	16	2770846	2770846	Human		name
8653594	CV130169	single nucleotide variant	NM_194286.3(SRRM4):c.278+1073C>A	Lung cancer [RCV000110656]	uncertain significance	12	119103455	119103455	Human		name
8653595	CV130170	single nucleotide variant	NM_194286.3(SRRM4):c.438-1017C>G	Lung cancer [RCV000110657]	uncertain significance	12	119119233	119119233	Human		name
8653596	CV130171	single nucleotide variant	NM_194286.3(SRRM4):c.771+6614C>A	Lung cancer [RCV000110658]	uncertain significance	12	119137448	119137448	Human		name
156215550	CV2385996	single nucleotide variant	NM_016333.4(SRRM2):c.7259C>T (p.Thr2420Ile)	Inborn genetic diseases [RCV002744374]\|Intellectual developmental disorder, autosomal dominant 72 [RCV005230451]\|SRRM2-related disorder [RCV003936690]	likely benign\|uncertain significance	16	2767787	2767787	Human	2	name , alternate_id
401920144	CV2796452	single nucleotide variant	NM_016333.4(SRRM2):c.7152G>C (p.Arg2384Ser)	SRRM2-related disorder [RCV003402488]	uncertain significance	16	2767680	2767680	Human		name , trait , alternate_id
401932388	CV2799046	single nucleotide variant	NM_016333.4(SRRM2):c.6319G>A (p.Val2107Ile)	SRRM2-related disorder [RCV003408594]	uncertain significance	16	2766847	2766847	Human		name , trait , alternate_id
401914971	CV2799282	single nucleotide variant	NM_016333.4(SRRM2):c.3004C>T (p.Gln1002Ter)	SRRM2-related disorder [RCV003400400]	likely pathogenic	16	2763532	2763532	Human		name , trait , alternate_id
401907456	CV2801123	duplication	NM_016333.4(SRRM2):c.339_340dup (p.Gln114fs)	SRRM2-related disorder [RCV003397365]	likely pathogenic	16	2757567	2757568	Human		trait , alternate_id
401907853	CV2801204	single nucleotide variant	NM_016333.4(SRRM2):c.2002C>A (p.Arg668Ser)	SRRM2-related disorder [RCV003397445]	uncertain significance	16	2762530	2762530	Human		name , trait , alternate_id
401906140	CV2802491	single nucleotide variant	NM_016333.4(SRRM2):c.1495A>G (p.Thr499Ala)	SRRM2-related disorder [RCV003421083]	uncertain significance	16	2762023	2762023	Human		name , trait , alternate_id
401934909	CV2803038	single nucleotide variant	NM_016333.4(SRRM2):c.6802A>G (p.Met2268Val)	SRRM2-related disorder [RCV003412244]	uncertain significance	16	2767330	2767330	Human		name , trait , alternate_id
401906086	CV2804464	single nucleotide variant	NM_016333.4(SRRM2):c.5996C>T (p.Ser1999Phe)	SRRM2-related disorder [RCV003420906]	likely pathogenic\|uncertain significance	16	2766524	2766524	Human		name , trait , alternate_id
401943663	CV2840130	single nucleotide variant	NM_016333.4(SRRM2):c.4382G>T (p.Gly1461Val)	SRRM2-related disorder [RCV003919242]\|not provided [RCV003456914]	likely benign	16	2764910	2764910	Human	1	name , alternate_id
405257623	CV3190385	single nucleotide variant	NM_016333.4(SRRM2):c.7132G>A (p.Ala2378Thr)	SRRM2-related disorder [RCV003892331]	uncertain significance	16	2767660	2767660	Human		name , trait , alternate_id
405269851	CV3197985	single nucleotide variant	NM_016333.4(SRRM2):c.1195C>T (p.Pro399Ser)	SRRM2-related disorder [RCV003899797]	likely benign	16	2761723	2761723	Human		name , trait , alternate_id
405280341	CV3200638	single nucleotide variant	NM_016333.4(SRRM2):c.2118C>T (p.Ser706=)	SRRM2-related disorder [RCV003977262]	benign	16	2762646	2762646	Human		name , trait , alternate_id
405288992	CV3204854	single nucleotide variant	NM_016333.4(SRRM2):c.4046C>T (p.Ser1349Phe)	SRRM2-related disorder [RCV003961512]	likely benign	16	2764574	2764574	Human		name , trait , alternate_id
405285499	CV3212517	single nucleotide variant	NM_016333.4(SRRM2):c.3774A>G (p.Ser1258=)	SRRM2-related disorder [RCV003959100]	likely benign	16	2764302	2764302	Human		name , trait , alternate_id
405278167	CV3216422	single nucleotide variant	NM_016333.4(SRRM2):c.6154C>T (p.Arg2052Cys)	SRRM2-related disorder [RCV003954363]	likely benign	16	2766682	2766682	Human		name , trait , alternate_id
405278668	CV3216726	single nucleotide variant	NM_016333.4(SRRM2):c.986A>G (p.Lys329Arg)	SRRM2-related disorder [RCV003954610]	likely benign	16	2760453	2760453	Human		name , trait , alternate_id
405287884	CV3217971	single nucleotide variant	NM_016333.4(SRRM2):c.3633G>A (p.Arg1211=)	SRRM2-related disorder [RCV003982095]	benign	16	2764161	2764161	Human		name , trait , alternate_id
405286323	CV3218746	microsatellite	NM_016333.4(SRRM2):c.2736ATC[1] (p.Ser914del)	SRRM2-related disorder [RCV003959462]	likely benign	16	2763262	2763264	Human		trait , alternate_id
408383380	CV3503894	single nucleotide variant	NM_016333.4(SRRM2):c.3414C>G (p.Phe1138Leu)	SRRM2-related disorder [RCV004730601]	uncertain significance	16	2763942	2763942	Human		name , trait , alternate_id
408384332	CV3505091	single nucleotide variant	NM_016333.4(SRRM2):c.6358C>G (p.Pro2120Ala)	SRRM2-related disorder [RCV004731722]	uncertain significance	16	2766886	2766886	Human		name , trait , alternate_id
408385183	CV3505708	single nucleotide variant	NM_016333.4(SRRM2):c.5549A>G (p.Lys1850Arg)	SRRM2-related disorder [RCV004732406]	uncertain significance	16	2766077	2766077	Human		name , trait , alternate_id
408380082	CV3509862	single nucleotide variant	NM_016333.4(SRRM2):c.6274A>C (p.Thr2092Pro)	SRRM2-related disorder [RCV004753897]	uncertain significance	16	2766802	2766802	Human		name , trait , alternate_id
15162535	CV726527	single nucleotide variant	NM_016333.4(SRRM2):c.3107G>C (p.Cys1036Ser)	SRRM2-related disorder [RCV003975538]\|not provided [RCV000881774]	likely benign	16	2763635	2763635	Human	1	name , alternate_id
617152033	CV4022818	single nucleotide variant	NM_015908.6(SRRT):c.1060C>T (p.Arg354Trp)	SRRT-related condition [RCV005430894]	uncertain significance	7	100884941	100884941	Human		name , trait
150492352	CV1253917	single nucleotide variant	NM_015908.6(SRRT):c.795T>C (p.Leu265=)	not provided [RCV001675013]	benign	7	100884405	100884405	Human		name
156149783	CV2394603	single nucleotide variant	NM_194286.4(SRRM4):c.17A>G (p.Gln6Arg)	not specified [RCV004240951]	uncertain significance	12	118981899	118981899	Human		name
401922653	CV2825966	single nucleotide variant	NM_015908.6(SRRT):c.357C>T (p.Asp119=)	not provided [RCV003433996]	likely benign	7	100881764	100881764	Human		name
405702162	CV3330707	single nucleotide variant	NM_016333.4(SRRM2):c.23C>T (p.Pro8Leu)	Inborn genetic diseases [RCV004460547]	uncertain significance	16	2756387	2756387	Human	1	name
405872320	CV3398373	deletion	NM_016333.4(SRRM2):c.85del (p.Arg29fs)	not provided [RCV004575374]	likely pathogenic\|uncertain significance	16	2756448	2756448	Human		name
597719940	CV3733551	single nucleotide variant	NM_016333.4(SRRM2):c.14T>C (p.Ile5Thr)	not provided [RCV005052741]	uncertain significance	16	2756378	2756378	Human		name
15098620	CV699705	single nucleotide variant	NM_015908.6(SRRT):c.471C>T (p.Leu157=)	not provided [RCV000958603]	benign	7	100882125	100882125	Human		name
15168720	CV699706	single nucleotide variant	NM_015908.6(SRRT):c.615G>A (p.Glu205=)	not provided [RCV000949316]	benign	7	100884097	100884097	Human		name
151347917	CV1323775	single nucleotide variant	NM_016333.4(SRRM2):c.58C>T (p.Gln20Ter)	Neurodevelopmental disorder [RCV001807709]	pathogenic	16	2756422	2756422	Human	1	name
155995893	CV2250398	single nucleotide variant	NM_016333.4(SRRM2):c.86G>T (p.Arg29Leu)	Inborn genetic diseases [RCV002794086]	uncertain significance	16	2756450	2756450	Human	1	name
156135275	CV2256849	single nucleotide variant	NM_015908.6(SRRT):c.236G>C (p.Arg79Pro)	not specified [RCV004121063]	uncertain significance	7	100881398	100881398	Human		name
156248175	CV2307140	single nucleotide variant	NM_016333.4(SRRM2):c.79C>G (p.Arg27Gly)	Inborn genetic diseases [RCV002919750]	uncertain significance	16	2756443	2756443	Human	1	name
156158306	CV2314521	single nucleotide variant	NM_015908.6(SRRT):c.209G>A (p.Arg70His)	not specified [RCV004168615]	uncertain significance	7	100881371	100881371	Human		name
155930842	CV2362352	single nucleotide variant	NM_016333.4(SRRM2):c.79C>T (p.Arg27Trp)	Inborn genetic diseases [RCV002993255]	uncertain significance	16	2756443	2756443	Human	1	name
401887797	CV2770451	single nucleotide variant	NM_016333.4(SRRM2):c.76G>C (p.Val26Leu)	Inborn genetic diseases [RCV003367340]	uncertain significance	16	2756440	2756440	Human	1	name
401911417	CV2810947	single nucleotide variant	NM_016333.4(SRRM2):c.924G>A (p.Ala308=)	not provided [RCV003426533]	likely benign	16	2760391	2760391	Human		name
401922654	CV2825967	single nucleotide variant	NM_015908.6(SRRT):c.1896C>T (p.Asn632=)	not provided [RCV003433997]	likely benign	7	100887121	100887121	Human		name
405702690	CV3326844	single nucleotide variant	NM_016333.4(SRRM2):c.97C>T (p.Arg33Trp)	Inborn genetic diseases [RCV004460626]	uncertain significance	16	2756461	2756461	Human	1	name
407526011	CV3474880	single nucleotide variant	NM_015908.6(SRRT):c.184C>T (p.Arg62Trp)	not specified [RCV004679503]	uncertain significance	7	100881346	100881346	Human		name
408391832	CV3523454	single nucleotide variant	NM_016333.4(SRRM2):c.80G>C (p.Arg27Pro)	not provided [RCV004770828]	uncertain significance	16	2756444	2756444	Human		name
597681016	CV3611565	single nucleotide variant	NM_005839.4(SRRM1):c.46C>T (p.Arg16Trp)	not specified [RCV004857482]	uncertain significance	1	24646008	24646008	Human		name
597681061	CV3611671	single nucleotide variant	NM_015908.6(SRRT):c.193C>T (p.Arg65Cys)	not specified [RCV004857488]	uncertain significance	7	100881355	100881355	Human		name
597779566	CV3611685	single nucleotide variant	NM_015908.6(SRRT):c.157G>A (p.Gly53Ser)	not specified [RCV004873541]	uncertain significance	7	100881319	100881319	Human		name
616937743	CV4014903	single nucleotide variant	NM_016333.4(SRRM2):c.48C>G (p.Asn16Lys)	not provided [RCV005411919]	uncertain significance	16	2756412	2756412	Human		name
15184577	CV703588	single nucleotide variant	NM_016333.4(SRRM2):c.327G>A (p.Glu109=)	not provided [RCV000952742]	likely benign	16	2757556	2757556	Human		name
15193626	CV722202	single nucleotide variant	NM_015908.6(SRRT):c.1554C>G (p.Arg518=)	not provided [RCV000888998]	benign	7	100886342	100886342	Human		name
15117321	CV735828	single nucleotide variant	NM_015908.6(SRRT):c.1671C>A (p.Ile557=)	not provided [RCV000895355]	benign	7	100886818	100886818	Human		name
15190097	CV740053	single nucleotide variant	NM_016333.4(SRRM2):c.468T>C (p.Arg156=)	not provided [RCV000909849]	likely benign	16	2757898	2757898	Human		name
15193965	CV755050	single nucleotide variant	NM_016333.4(SRRM2):c.816C>T (p.Ser272=)	not provided [RCV000910990]	likely benign	16	2759644	2759644	Human		name
150551022	CV1292411	single nucleotide variant	NM_016333.4(SRRM2):c.2361A>G (p.Lys787=)	not provided [RCV001754018]	benign	16	2762889	2762889	Human		name
155917657	CV2199044	single nucleotide variant	NM_194286.4(SRRM4):c.268A>G (p.Arg90Gly)	not specified [RCV004080447]	uncertain significance	12	119102372	119102372	Human		name
156034999	CV2208029	single nucleotide variant	NM_015908.6(SRRT):c.641G>A (p.Arg214Gln)	not specified [RCV004086728]	uncertain significance	7	100884123	100884123	Human		name
155981682	CV2208483	single nucleotide variant	NM_015908.6(SRRT):c.982T>G (p.Ser328Ala)	not specified [RCV004091017]	uncertain significance	7	100884779	100884779	Human		name
156128797	CV2220076	single nucleotide variant	NM_015908.6(SRRT):c.917A>C (p.Asp306Ala)	not specified [RCV004093950]	uncertain significance	7	100884527	100884527	Human		name
156034001	CV2236450	single nucleotide variant	NM_015908.6(SRRT):c.934G>A (p.Gly312Ser)	not specified [RCV004108121]	uncertain significance	7	100884544	100884544	Human		name
156282504	CV2288828	single nucleotide variant	NM_194286.4(SRRM4):c.279T>G (p.Ser93Arg)	not specified [RCV004148035]	uncertain significance	12	119114278	119114278	Human		name
156249910	CV2311175	single nucleotide variant	NM_015908.6(SRRT):c.962A>G (p.Asn321Ser)	not specified [RCV004166273]	likely benign	7	100884759	100884759	Human		name
156175581	CV2355702	single nucleotide variant	NM_194286.4(SRRM4):c.200T>G (p.Leu67Arg)	not specified [RCV004199064]	uncertain significance	12	119102304	119102304	Human		name
156130680	CV2358102	single nucleotide variant	NM_194286.4(SRRM4):c.250C>T (p.Arg84Trp)	not specified [RCV004211911]	uncertain significance	12	119102354	119102354	Human		name
155991305	CV2372151	single nucleotide variant	NM_015908.6(SRRT):c.980A>C (p.Lys327Thr)	not specified [RCV004223673]	uncertain significance	7	100884777	100884777	Human		name
329352083	CV2476620	single nucleotide variant	NM_016333.4(SRRM2):c.1125C>T (p.Gly375=)	not provided [RCV003222852]	likely benign	16	2761653	2761653	Human		name
401799120	CV2741696	single nucleotide variant	NM_016333.4(SRRM2):c.160A>T (p.Asn54Tyr)	not provided [RCV003323104]	uncertain significance	16	2756524	2756524	Human		name
401830438	CV2748140	single nucleotide variant	NM_016333.4(SRRM2):c.284G>A (p.Arg95Gln)	not provided [RCV003329747]	uncertain significance	16	2757513	2757513	Human		name
401890747	CV2778328	single nucleotide variant	NM_016333.4(SRRM2):c.196G>A (p.Val66Ile)	Inborn genetic diseases [RCV003354556]	uncertain significance	16	2756560	2756560	Human	1	name
401861580	CV2779933	single nucleotide variant	NM_016333.4(SRRM2):c.163C>G (p.Pro55Ala)	Inborn genetic diseases [RCV003357899]	uncertain significance	16	2756527	2756527	Human	1	name
401888069	CV2791210	single nucleotide variant	NM_015908.6(SRRT):c.664A>T (p.Arg222Trp)	not specified [RCV004356851]	uncertain significance	7	100884146	100884146	Human		name
401938469	CV2810950	single nucleotide variant	NM_016333.4(SRRM2):c.2562C>T (p.Ser854=)	not provided [RCV003417590]	likely benign	16	2763090	2763090	Human		name
405078758	CV2945426	single nucleotide variant	NM_016333.4(SRRM2):c.136G>T (p.Glu46Ter)	not provided [RCV003664448]	pathogenic	16	2756500	2756500	Human		name
405267099	CV3186767	single nucleotide variant	NM_016333.4(SRRM2):c.2814T>G (p.Pro938=)	not provided [RCV003886848]	likely benign	16	2763342	2763342	Human		name
405702824	CV3326864	single nucleotide variant	NM_194286.4(SRRM4):c.167A>G (p.Gln56Arg)	not specified [RCV004460646]	likely benign	12	119102271	119102271	Human		name
405703058	CV3326895	single nucleotide variant	NM_015908.6(SRRT):c.305G>C (p.Gly102Ala)	not specified [RCV004460677]	uncertain significance	7	100881712	100881712	Human		name
405703066	CV3326896	single nucleotide variant	NM_015908.6(SRRT):c.640C>T (p.Arg214Trp)	not specified [RCV004460678]	uncertain significance	7	100884122	100884122	Human		name
405703073	CV3326897	single nucleotide variant	NM_015908.6(SRRT):c.797G>A (p.Arg266His)	not specified [RCV004460679]	uncertain significance	7	100884407	100884407	Human		name
405701904	CV3330672	single nucleotide variant	NM_001013694.3(SRRD):c.10G>C (p.Ala4Pro)	not specified [RCV004460512]	uncertain significance	22	26483900	26483900	Human		name
405701986	CV3330683	single nucleotide variant	NM_005839.4(SRRM1):c.2382G>A (p.Pro794=)	not specified [RCV004460523]	likely benign	1	24670297	24670297	Human		name
405852892	CV3393320	single nucleotide variant	NM_194286.4(SRRM4):c.140C>T (p.Pro47Leu)	not provided [RCV004546050]	likely benign	12	119102244	119102244	Human		name
405871626	CV3397984	single nucleotide variant	NM_001013694.3(SRRD):c.150C>T (p.Gly50=)	not provided [RCV004574984]	likely benign	22	26484040	26484040	Human		name
407526007	CV3474875	single nucleotide variant	NM_015908.6(SRRT):c.863A>G (p.Glu288Gly)	not specified [RCV004679502]	uncertain significance	7	100884473	100884473	Human		name
407516824	CV3474876	single nucleotide variant	NM_015908.6(SRRT):c.898C>T (p.Arg300Cys)	not specified [RCV004675431]	uncertain significance	7	100884508	100884508	Human		name
407516830	CV3474878	single nucleotide variant	NM_015908.6(SRRT):c.736A>G (p.Ile246Val)	not specified [RCV004675433]	uncertain significance	7	100884218	100884218	Human		name
407476474	CV3494905	single nucleotide variant	NM_016333.4(SRRM2):c.2733G>A (p.Arg911=)	not specified [RCV004690806]	likely benign	16	2763261	2763261	Human		name
408379251	CV3501009	single nucleotide variant	NM_016333.4(SRRM2):c.2493A>G (p.Ser831=)	not provided [RCV004722659]	likely benign	16	2763021	2763021	Human		name
408394401	CV3518191	single nucleotide variant	NM_016333.4(SRRM2):c.205C>T (p.Arg69Ter)	Intellectual developmental disorder, autosomal dominant 72 [RCV004759514]	likely pathogenic	16	2756569	2756569	Human	1	name
408389658	CV3518980	single nucleotide variant	NM_016333.4(SRRM2):c.266A>T (p.Glu89Val)	not provided [RCV004762288]	uncertain significance	16	2757495	2757495	Human		name
408393341	CV3528439	single nucleotide variant	NM_016333.4(SRRM2):c.283C>G (p.Arg95Gly)	not provided [RCV004776207]	uncertain significance	16	2757512	2757512	Human		name
596931196	CV3531529	single nucleotide variant	NM_016333.4(SRRM2):c.227T>C (p.Met76Thr)	not provided [RCV004781091]	uncertain significance	16	2756591	2756591	Human		name
596925863	CV3535979	single nucleotide variant	NM_016333.4(SRRM2):c.109A>G (p.Lys37Glu)	Neurodevelopmental disorder [RCV004788409]	uncertain significance	16	2756473	2756473	Human	1	name
597632826	CV3611585	duplication	NM_016333.4(SRRM2):c.922dup (p.Ala308fs)	Inborn genetic diseases [RCV004968926]	pathogenic	16	2760388	2760389	Human	1	name
597633009	CV3611641	single nucleotide variant	NM_016333.4(SRRM2):c.100C>T (p.Pro34Ser)	Inborn genetic diseases [RCV004968981]	uncertain significance	16	2756464	2756464	Human	1	name
597681068	CV3611672	single nucleotide variant	NM_015908.6(SRRT):c.847C>T (p.Pro283Ser)	not specified [RCV004857489]	uncertain significance	7	100884457	100884457	Human		name
597779592	CV3611676	single nucleotide variant	NM_015908.6(SRRT):c.782C>T (p.Thr261Met)	not specified [RCV004873534]	uncertain significance	7	100884392	100884392	Human		name
597779580	CV3611680	single nucleotide variant	NM_015908.6(SRRT):c.632A>G (p.Gln211Arg)	not specified [RCV004873537]	uncertain significance	7	100884114	100884114	Human		name
597779576	CV3611681	single nucleotide variant	NM_015908.6(SRRT):c.694T>C (p.Trp232Arg)	not specified [RCV004873538]	uncertain significance	7	100884176	100884176	Human		name
597779570	CV3611683	single nucleotide variant	NM_015908.6(SRRT):c.997G>A (p.Asp333Asn)	not specified [RCV004873540]	uncertain significance	7	100884794	100884794	Human		name
598129085	CV3886889	single nucleotide variant	NM_016333.4(SRRM2):c.2787C>T (p.Ser929=)	not provided [RCV005244549]	benign	16	2763315	2763315	Human		name
598173309	CV3912332	single nucleotide variant	NM_005839.4(SRRM1):c.121A>T (p.Ser41Cys)	not specified [RCV005285157]	uncertain significance	1	24646676	24646676	Human		name
598173485	CV3912375	single nucleotide variant	NM_016333.4(SRRM2):c.278C>T (p.Thr93Ile)	Inborn genetic diseases [RCV005285195]	uncertain significance	16	2757507	2757507	Human	1	name
598212943	CV3912393	single nucleotide variant	NM_016333.4(SRRM2):c.184C>T (p.Arg62Cys)	Inborn genetic diseases [RCV005271036]	uncertain significance	16	2756548	2756548	Human	1	name
598173699	CV3912427	single nucleotide variant	NM_194286.4(SRRM4):c.122C>A (p.Pro41Gln)	not specified [RCV005285239]	uncertain significance	12	118982004	118982004	Human		name
598173771	CV3922803	single nucleotide variant	NM_015908.6(SRRT):c.899G>A (p.Arg300His)	not specified [RCV005285250]	uncertain significance	7	100884509	100884509	Human		name
598173791	CV3922806	single nucleotide variant	NM_015908.6(SRRT):c.851G>A (p.Ser284Asn)	not specified [RCV005285253]	uncertain significance	7	100884461	100884461	Human		name
598173811	CV3922809	single nucleotide variant	NM_015908.6(SRRT):c.974C>T (p.Thr325Ile)	not specified [RCV005285256]	uncertain significance	7	100884771	100884771	Human		name
598173837	CV3922813	single nucleotide variant	NM_015908.6(SRRT):c.892G>A (p.Gly298Arg)	not specified [RCV005285260]	uncertain significance	7	100884502	100884502	Human		name
616939549	CV4014044	single nucleotide variant	NM_016333.4(SRRM2):c.2682C>T (p.Ser894=)	not provided [RCV005413536]	likely benign	16	2763210	2763210	Human		name
15200470	CV726524	single nucleotide variant	NM_016333.4(SRRM2):c.1953C>T (p.Thr651=)	not provided [RCV000890921]	benign\|likely benign	16	2762481	2762481	Human		name
15104963	CV726526	single nucleotide variant	NM_016333.4(SRRM2):c.2988C>T (p.Tyr996=)	not provided [RCV000892988]	benign	16	2763516	2763516	Human		name
15181390	CV740054	single nucleotide variant	NM_016333.4(SRRM2):c.1947T>C (p.Ser649=)	not provided [RCV000907572]	likely benign	16	2762475	2762475	Human		name
8629454	CV84601	single nucleotide variant	NM_005839.3(SRRM1):c.295C>T (p.Arg99Ter)	Malignant melanoma [RCV000064683]	not provided	1	24648919	24648919	Human		name
155963839	CV2194153	single nucleotide variant	NM_015908.6(SRRT):c.1895A>G (p.Asn632Ser)	not specified [RCV004077244]	uncertain significance	7	100887120	100887120	Human		name
156368387	CV2199835	single nucleotide variant	NM_016333.4(SRRM2):c.863C>T (p.Thr288Ile)	Inborn genetic diseases [RCV002652413]	uncertain significance	16	2760330	2760330	Human	1	name
155972622	CV2214343	single nucleotide variant	NM_016333.4(SRRM2):c.436G>A (p.Val146Ile)	Inborn genetic diseases [RCV002687634]	uncertain significance	16	2757866	2757866	Human	1	name
156092630	CV2216828	single nucleotide variant	NM_015908.6(SRRT):c.1523A>G (p.Asn508Ser)	not specified [RCV004083260]	uncertain significance	7	100886311	100886311	Human		name
156331559	CV2218181	single nucleotide variant	NM_194286.4(SRRM4):c.913C>T (p.Arg305Trp)	not specified [RCV004088390]	uncertain significance	12	119145522	119145522	Human		name
155978415	CV2222684	single nucleotide variant	NM_001013694.3(SRRD):c.64T>G (p.Ser22Ala)	not specified [RCV004101545]	uncertain significance	22	26483954	26483954	Human		name
156384445	CV2231085	single nucleotide variant	NM_001013694.3(SRRD):c.82C>G (p.Arg28Gly)	not specified [RCV004094309]	uncertain significance	22	26483972	26483972	Human		name
156059089	CV2239306	single nucleotide variant	NM_194286.4(SRRM4):c.667C>T (p.Arg223Cys)	not specified [RCV004114053]	uncertain significance	12	119130730	119130730	Human		name
156082218	CV2244378	single nucleotide variant	NM_016333.4(SRRM2):c.317G>A (p.Gly106Glu)	Inborn genetic diseases [RCV002737982]	uncertain significance	16	2757546	2757546	Human	1	name
155943487	CV2245048	single nucleotide variant	NM_016333.4(SRRM2):c.817G>A (p.Asp273Asn)	Inborn genetic diseases [RCV002752225]	uncertain significance	16	2759645	2759645	Human	1	name
156145147	CV2265028	single nucleotide variant	NM_016333.4(SRRM2):c.499C>G (p.Pro167Ala)	Inborn genetic diseases [RCV002826443]	uncertain significance	16	2757929	2757929	Human	1	name
155975193	CV2270050	single nucleotide variant	NM_016333.4(SRRM2):c.992C>T (p.Pro331Leu)	Inborn genetic diseases [RCV002818073]	uncertain significance	16	2760459	2760459	Human	1	name
156198666	CV2293710	single nucleotide variant	NM_005839.4(SRRM1):c.775C>A (p.Pro259Thr)	not specified [RCV004154998]	uncertain significance	1	24652483	24652483	Human		name
156291549	CV2296664	single nucleotide variant	NM_001013694.3(SRRD):c.56A>G (p.Lys19Arg)	not specified [RCV004154716]	likely benign	22	26483946	26483946	Human		name
156205302	CV2297867	single nucleotide variant	NM_016333.4(SRRM2):c.449C>T (p.Ser150Phe)	Inborn genetic diseases [RCV002875099]	uncertain significance	16	2757879	2757879	Human	1	name
156094350	CV2300294	single nucleotide variant	NM_001013694.3(SRRD):c.36G>C (p.Trp12Cys)	not specified [RCV004153248]	uncertain significance	22	26483926	26483926	Human		name
156042818	CV2311002	single nucleotide variant	NM_194286.4(SRRM4):c.776C>T (p.Thr259Ile)	not specified [RCV004164026]	uncertain significance	12	119145385	119145385	Human		name
156205521	CV2311398	single nucleotide variant	NM_194286.4(SRRM4):c.823C>A (p.Leu275Ile)	not specified [RCV004168249]	uncertain significance	12	119145432	119145432	Human		name
156302288	CV2319528	single nucleotide variant	NM_015908.6(SRRT):c.1134G>C (p.Gln378His)	not specified [RCV004185095]	uncertain significance	7	100885015	100885015	Human		name
156076651	CV2321906	single nucleotide variant	NM_005839.4(SRRM1):c.517A>G (p.Arg173Gly)	not specified [RCV004173373]	uncertain significance	1	24650082	24650082	Human		name
156287612	CV2327336	single nucleotide variant	NM_194286.4(SRRM4):c.429G>T (p.Lys143Asn)	not specified [RCV004174773]	uncertain significance	12	119117000	119117000	Human		name
155969623	CV2337974	single nucleotide variant	NM_015908.6(SRRT):c.2512G>C (p.Ala838Pro)	not specified [RCV004186019]	uncertain significance	7	100888340	100888340	Human		name
156190362	CV2339570	single nucleotide variant	NM_015908.6(SRRT):c.1732G>A (p.Gly578Arg)	not specified [RCV004194235]	uncertain significance	7	100886879	100886879	Human		name
155926085	CV2348610	single nucleotide variant	NM_016333.4(SRRM2):c.649A>C (p.Lys217Gln)	Inborn genetic diseases [RCV002970063]\|not provided [RCV005425081]	likely benign\|uncertain significance	16	2759040	2759040	Human	1	name
156132136	CV2350025	single nucleotide variant	NM_015908.6(SRRT):c.2243C>T (p.Ala748Val)	not specified [RCV004199951]	uncertain significance	7	100887776	100887776	Human		name
156277201	CV2352015	single nucleotide variant	NM_194286.4(SRRM4):c.572G>A (p.Arg191Gln)	not specified [RCV004191114]	uncertain significance	12	119125437	119125437	Human		name
155938812	CV2365094	single nucleotide variant	NM_015908.6(SRRT):c.1244G>A (p.Arg415Gln)	not specified [RCV004224250]	uncertain significance	7	100885297	100885297	Human		name
156258826	CV2366166	single nucleotide variant	NM_194286.4(SRRM4):c.322G>C (p.Gly108Arg)	not specified [RCV004210196]	uncertain significance	12	119114321	119114321	Human		name
156172124	CV2380776	single nucleotide variant	NM_015908.6(SRRT):c.1634C>T (p.Pro545Leu)	not specified [RCV004218340]	uncertain significance	7	100886422	100886422	Human		name
156060301	CV2391864	single nucleotide variant	NM_015908.6(SRRT):c.1536G>C (p.Gln512His)	not specified [RCV004235737]	uncertain significance	7	100886324	100886324	Human		name
156226955	CV2401286	single nucleotide variant	NM_016333.4(SRRM2):c.772C>T (p.Arg258Cys)	Inborn genetic diseases [RCV002805108]	uncertain significance	16	2759600	2759600	Human	1	name
243049973	CV2417284	single nucleotide variant	NM_016333.4(SRRM2):c.812C>G (p.Ser271Cys)	not provided [RCV003152156]	uncertain significance	16	2759640	2759640	Human		name
329353791	CV2439689	single nucleotide variant	NM_194286.4(SRRM4):c.533G>A (p.Arg178Gln)	not specified [RCV004255703]	uncertain significance	12	119125398	119125398	Human		name
329392270	CV2441379	single nucleotide variant	NM_015908.6(SRRT):c.2507A>C (p.Tyr836Ser)	not specified [RCV004257184]	uncertain significance	7	100888335	100888335	Human		name
329400404	CV2441629	single nucleotide variant	NM_005839.4(SRRM1):c.877C>T (p.Pro293Ser)	not specified [RCV004259453]	uncertain significance	1	24652585	24652585	Human		name
329383089	CV2441829	single nucleotide variant	NM_194286.4(SRRM4):c.890C>T (p.Thr297Met)	not specified [RCV004262029]	uncertain significance	12	119145499	119145499	Human		name
329374147	CV2443738	single nucleotide variant	NM_005839.4(SRRM1):c.523C>T (p.Arg175Cys)	not specified [RCV004256037]	uncertain significance	1	24651410	24651410	Human		name
329395238	CV2458231	single nucleotide variant	NM_194286.4(SRRM4):c.652C>T (p.Arg218Cys)	not specified [RCV004265891]	uncertain significance	12	119130715	119130715	Human		name
401723044	CV2674696	single nucleotide variant	NM_016333.4(SRRM2):c.926C>T (p.Pro309Leu)	Inborn genetic diseases [RCV003245048]	uncertain significance	16	2760393	2760393	Human	1	name
401741406	CV2680400	single nucleotide variant	NM_194286.4(SRRM4):c.562T>C (p.Cys188Arg)	not specified [RCV004288645]	uncertain significance	12	119125427	119125427	Human		name
401733156	CV2685443	single nucleotide variant	NM_194286.4(SRRM4):c.331A>G (p.Lys111Glu)	not specified [RCV004294472]	uncertain significance	12	119114330	119114330	Human		name
401747192	CV2692091	single nucleotide variant	NM_016333.4(SRRM2):c.923C>T (p.Ala308Val)	Inborn genetic diseases [RCV003275885]	uncertain significance	16	2760390	2760390	Human	1	name
401757456	CV2693010	single nucleotide variant	NM_016333.4(SRRM2):c.952A>G (p.Thr318Ala)	Inborn genetic diseases [RCV003256050]	uncertain significance	16	2760419	2760419	Human	1	name
401762461	CV2696134	single nucleotide variant	NM_015908.6(SRRT):c.1049A>G (p.Lys350Arg)	not specified [RCV004310194]	uncertain significance	7	100884930	100884930	Human		name
401782056	CV2719154	single nucleotide variant	NM_016333.4(SRRM2):c.902G>A (p.Gly301Glu)	Inborn genetic diseases [RCV003308822]	uncertain significance	16	2760369	2760369	Human	1	name
401752096	CV2723116	single nucleotide variant	NM_015908.6(SRRT):c.1854C>G (p.Ile618Met)	not specified [RCV004329371]	uncertain significance	7	100887079	100887079	Human		name
401769712	CV2731558	single nucleotide variant	NM_194286.4(SRRM4):c.671G>A (p.Arg224His)	not specified [RCV004330905]	uncertain significance	12	119130734	119130734	Human		name
401734124	CV2736946	single nucleotide variant	NM_016333.4(SRRM2):c.679C>T (p.Arg227Cys)	not provided [RCV003313709]	uncertain significance	16	2759162	2759162	Human		name
401830747	CV2748395	single nucleotide variant	NM_016333.4(SRRM2):c.608G>C (p.Ser203Thr)	not provided [RCV003330004]	uncertain significance	16	2758999	2758999	Human		name
401893171	CV2755936	single nucleotide variant	NM_015908.6(SRRT):c.1147A>G (p.Lys383Glu)	not specified [RCV004336024]	uncertain significance	7	100885028	100885028	Human		name
401883312	CV2757857	single nucleotide variant	NM_194286.4(SRRM4):c.833C>T (p.Ser278Leu)	not specified [RCV004336999]	uncertain significance	12	119145442	119145442	Human		name
401868969	CV2767394	single nucleotide variant	NM_005839.4(SRRM1):c.871C>G (p.Arg291Gly)	not specified [RCV004349551]	uncertain significance	1	24652579	24652579	Human		name
401868247	CV2784829	single nucleotide variant	NM_194286.4(SRRM4):c.950G>A (p.Ser317Asn)	not specified [RCV004352616]	uncertain significance	12	119145559	119145559	Human		name
401885180	CV2786699	single nucleotide variant	NM_015908.6(SRRT):c.1969G>A (p.Gly657Arg)	not specified [RCV004363821]	uncertain significance	7	100887194	100887194	Human		name
401892920	CV2791936	single nucleotide variant	NM_015908.6(SRRT):c.2400G>C (p.Gln800His)	not specified [RCV004359365]	uncertain significance	7	100888115	100888115	Human		name
401938471	CV2810953	single nucleotide variant	NM_016333.4(SRRM2):c.3981T>C (p.Phe1327=)	not provided [RCV003417592]	likely benign	16	2764509	2764509	Human		name
401934347	CV2810959	single nucleotide variant	NM_016333.4(SRRM2):c.5928T>C (p.Pro1976=)	not provided [RCV003411236]	likely benign	16	2766456	2766456	Human		name
401938473	CV2810960	single nucleotide variant	NM_016333.4(SRRM2):c.6687C>T (p.Ala2229=)	not provided [RCV003417594]	likely benign	16	2767215	2767215	Human		name
401911426	CV2810962	single nucleotide variant	NM_016333.4(SRRM2):c.7092G>A (p.Ala2364=)	not provided [RCV003426540]	likely benign	16	2767620	2767620	Human		name
401911428	CV2810963	single nucleotide variant	NM_016333.4(SRRM2):c.7926C>T (p.Ser2642=)	not provided [RCV003426541]	likely benign	16	2769189	2769189	Human		name
401934348	CV2810964	single nucleotide variant	NM_016333.4(SRRM2):c.7932G>C (p.Ser2644=)	not provided [RCV003411237]	likely benign	16	2769195	2769195	Human		name
405281749	CV3224325	duplication	NM_016333.4(SRRM2):c.1181dup (p.Ser395fs)	Intellectual developmental disorder, autosomal dominant 72 [RCV003988707]	likely pathogenic	16	2761703	2761704	Human	1	name
405702544	CV3326822	single nucleotide variant	NM_016333.4(SRRM2):c.654C>G (p.His218Gln)	Inborn genetic diseases [RCV004460604]\|not provided [RCV005363326]	uncertain significance	16	2759045	2759045	Human	1	name
405702632	CV3326835	single nucleotide variant	NM_016333.4(SRRM2):c.775C>T (p.Arg259Trp)	Inborn genetic diseases [RCV004460617]	uncertain significance	16	2759603	2759603	Human	1	name
405702684	CV3326843	single nucleotide variant	NM_016333.4(SRRM2):c.943A>G (p.Thr315Ala)	Inborn genetic diseases [RCV004460625]	likely benign	16	2760410	2760410	Human	1	name
405702840	CV3326866	single nucleotide variant	NM_194286.4(SRRM4):c.350G>A (p.Arg117Gln)	not specified [RCV004460648]	uncertain significance	12	119114349	119114349	Human		name
405702844	CV3326867	single nucleotide variant	NM_194286.4(SRRM4):c.619C>T (p.Arg207Cys)	not specified [RCV004460649]	uncertain significance	12	119130682	119130682	Human		name
405702851	CV3326868	single nucleotide variant	NM_194286.4(SRRM4):c.622G>A (p.Gly208Ser)	not specified [RCV004460650]	uncertain significance	12	119130685	119130685	Human		name
405702858	CV3326869	single nucleotide variant	NM_194286.4(SRRM4):c.670C>T (p.Arg224Cys)	not specified [RCV004460651]	uncertain significance	12	119130733	119130733	Human		name
405702866	CV3326870	single nucleotide variant	NM_194286.4(SRRM4):c.914G>C (p.Arg305Pro)	not specified [RCV004460652]	uncertain significance	12	119145523	119145523	Human		name
405702875	CV3326871	single nucleotide variant	NM_194286.4(SRRM4):c.959G>A (p.Arg320Gln)	not specified [RCV004460653]	likely benign	12	119145568	119145568	Human		name
405702996	CV3326887	single nucleotide variant	NM_015908.6(SRRT):c.1061G>A (p.Arg354Gln)	not specified [RCV004460669]	uncertain significance	7	100884942	100884942	Human		name
405703004	CV3326888	single nucleotide variant	NM_015908.6(SRRT):c.1312A>G (p.Ile438Val)	not specified [RCV004460670]	uncertain significance	7	100885365	100885365	Human		name
405703011	CV3326889	single nucleotide variant	NM_015908.6(SRRT):c.1352C>T (p.Ala451Val)	not specified [RCV004460671]	uncertain significance	7	100885735	100885735	Human		name
405703017	CV3326890	single nucleotide variant	NM_015908.6(SRRT):c.1748C>T (p.Ala583Val)	not specified [RCV004460672]	uncertain significance	7	100886895	100886895	Human		name
405703037	CV3326892	single nucleotide variant	NM_015908.6(SRRT):c.1878C>A (p.Asn626Lys)	not specified [RCV004460674]	uncertain significance	7	100887103	100887103	Human		name
405703043	CV3326893	single nucleotide variant	NM_015908.6(SRRT):c.2404C>T (p.Arg802Trp)	not specified [RCV004460675]	uncertain significance	7	100888119	100888119	Human		name
405703051	CV3326894	single nucleotide variant	NM_015908.6(SRRT):c.2507A>G (p.Tyr836Cys)	not specified [RCV004460676]	uncertain significance	7	100888335	100888335	Human		name
405701949	CV3330678	single nucleotide variant	NM_001013694.3(SRRD):c.74G>A (p.Arg25Gln)	not specified [RCV004460518]	uncertain significance	22	26483964	26483964	Human		name
405701995	CV3330684	single nucleotide variant	NM_005839.4(SRRM1):c.715A>G (p.Thr239Ala)	not specified [RCV004460524]	uncertain significance	1	24651602	24651602	Human		name
405702000	CV3330685	single nucleotide variant	NM_005839.4(SRRM1):c.730A>T (p.Ile244Phe)	not specified [RCV004460525]	uncertain significance	1	24652438	24652438	Human		name
405702007	CV3330686	single nucleotide variant	NM_005839.4(SRRM1):c.842G>A (p.Arg281His)	not specified [RCV004460526]	uncertain significance	1	24652550	24652550	Human		name
405702015	CV3330687	single nucleotide variant	NM_005839.4(SRRM1):c.866G>A (p.Arg289Gln)	not specified [RCV004460527]	uncertain significance	1	24652574	24652574	Human		name
405702026	CV3330688	single nucleotide variant	NM_005839.4(SRRM1):c.872G>A (p.Arg291His)	not specified [RCV004460528]	uncertain significance	1	24652580	24652580	Human		name
405702326	CV3330732	single nucleotide variant	NM_016333.4(SRRM2):c.467G>A (p.Arg156His)	Inborn genetic diseases [RCV004460572]	uncertain significance	16	2757897	2757897	Human	1	name
405702358	CV3330736	single nucleotide variant	NM_016333.4(SRRM2):c.488C>T (p.Pro163Leu)	Inborn genetic diseases [RCV004460576]	uncertain significance	16	2757918	2757918	Human	1	name
405702397	CV3330742	single nucleotide variant	NM_016333.4(SRRM2):c.509C>A (p.Pro170His)	Inborn genetic diseases [RCV004460582]	uncertain significance	16	2757939	2757939	Human	1	name
405871865	CV3398111	single nucleotide variant	NM_016333.4(SRRM2):c.706A>G (p.Ser236Gly)	not provided [RCV004575112]	uncertain significance	16	2759368	2759368	Human		name
407426827	CV3411627	single nucleotide variant	NM_016333.4(SRRM2):c.418G>C (p.Gly140Arg)	not provided [RCV004590805]	uncertain significance	16	2757848	2757848	Human		name
407516711	CV3474813	single nucleotide variant	NM_001013694.3(SRRD):c.29A>G (p.Glu10Gly)	not specified [RCV004675386]	uncertain significance	22	26483919	26483919	Human		name
407525960	CV3474816	single nucleotide variant	NM_005839.4(SRRM1):c.430A>G (p.Met144Val)	not specified [RCV004679485]	uncertain significance	1	24649995	24649995	Human		name
407516720	CV3474817	single nucleotide variant	NM_005839.4(SRRM1):c.496A>G (p.Arg166Gly)	not specified [RCV004675389]	uncertain significance	1	24650061	24650061	Human		name
407525963	CV3474818	single nucleotide variant	NM_005839.4(SRRM1):c.872G>C (p.Arg291Pro)	not specified [RCV004679486]	uncertain significance	1	24652580	24652580	Human		name
407516737	CV3474828	single nucleotide variant	NM_016333.4(SRRM2):c.773G>A (p.Arg258His)	Inborn genetic diseases [RCV004675395]	likely benign	16	2759601	2759601	Human	1	name
407516817	CV3474865	single nucleotide variant	NM_194286.4(SRRM4):c.722C>T (p.Pro241Leu)	not specified [RCV004675424]	uncertain significance	12	119130785	119130785	Human		name
407516820	CV3474866	single nucleotide variant	NM_194286.4(SRRM4):c.349C>T (p.Arg117Trp)	not specified [RCV004675425]	uncertain significance	12	119114348	119114348	Human		name
407516827	CV3474877	single nucleotide variant	NM_015908.6(SRRT):c.1129G>A (p.Gly377Ser)	not specified [RCV004675432]	uncertain significance	7	100885010	100885010	Human		name
407516833	CV3474879	single nucleotide variant	NM_015908.6(SRRT):c.2479G>T (p.Ala827Ser)	not specified [RCV004675434]	uncertain significance	7	100888307	100888307	Human		name
407516837	CV3474881	single nucleotide variant	NM_015908.6(SRRT):c.1766C>T (p.Pro589Leu)	not specified [RCV004675435]	uncertain significance	7	100886913	100886913	Human		name
407526015	CV3474882	single nucleotide variant	NM_015908.6(SRRT):c.1135G>T (p.Ala379Ser)	not specified [RCV004679504]	uncertain significance	7	100885016	100885016	Human		name
408388215	CV3520694	single nucleotide variant	NM_016333.4(SRRM2):c.745C>G (p.Arg249Gly)	not provided [RCV004761527]	uncertain significance	16	2759573	2759573	Human		name
408391461	CV3523204	single nucleotide variant	NM_016333.4(SRRM2):c.460C>A (p.Gln154Lys)	not provided [RCV004770576]	uncertain significance	16	2757890	2757890	Human		name
408392388	CV3525215	single nucleotide variant	NM_016333.4(SRRM2):c.829A>T (p.Ser277Cys)	not provided [RCV004771101]	uncertain significance	16	2759657	2759657	Human		name
408385439	CV3528507	single nucleotide variant	NM_016333.4(SRRM2):c.569A>G (p.Lys190Arg)	not provided [RCV004772339]	uncertain significance	16	2758523	2758523	Human		name
596920419	CV3534603	single nucleotide variant	NM_016333.4(SRRM2):c.454G>C (p.Asp152His)	not specified [RCV004782164]	uncertain significance	16	2757884	2757884	Human		name
596946334	CV3550599	single nucleotide variant	NM_016333.4(SRRM2):c.911G>T (p.Gly304Val)	not provided [RCV004819138]	uncertain significance	16	2760378	2760378	Human		name
597651792	CV3552038	single nucleotide variant	NM_016333.4(SRRM2):c.877G>A (p.Gly293Arg)	not provided [RCV004820751]	uncertain significance	16	2760344	2760344	Human		name
597779292	CV3611545	single nucleotide variant	NM_001013694.3(SRRD):c.32C>T (p.Ser11Phe)	not specified [RCV004873501]	uncertain significance	22	26483922	26483922	Human		name
597680946	CV3611546	single nucleotide variant	NM_001013694.3(SRRD):c.74G>C (p.Arg25Pro)	not specified [RCV004857474]	uncertain significance	22	26483964	26483964	Human		name
597680964	CV3611553	single nucleotide variant	NM_001013694.3(SRRD):c.52C>T (p.Arg18Trp)	not specified [RCV004857476]	uncertain significance	22	26483942	26483942	Human		name
597779335	CV3611561	single nucleotide variant	NM_005839.4(SRRM1):c.628C>T (p.Pro210Ser)	not specified [RCV004873512]	uncertain significance	1	24651515	24651515	Human		name
597680989	CV3611562	single nucleotide variant	NM_005839.4(SRRM1):c.704T>G (p.Val235Gly)	not specified [RCV004857479]	uncertain significance	1	24651591	24651591	Human		name
597779339	CV3611566	single nucleotide variant	NM_005839.4(SRRM1):c.673G>C (p.Glu225Gln)	not specified [RCV004873513]	uncertain significance	1	24651560	24651560	Human		name
597632734	CV3611578	single nucleotide variant	NM_016333.4(SRRM2):c.838C>T (p.Arg280Ter)	Inborn genetic diseases [RCV004968919]	pathogenic	16	2760305	2760305	Human	1	name
597632735	CV3611579	single nucleotide variant	NM_016333.4(SRRM2):c.485A>C (p.Gln162Pro)	Inborn genetic diseases [RCV004968920]	likely benign	16	2757915	2757915	Human	1	name
597632743	CV3611582	single nucleotide variant	NM_016333.4(SRRM2):c.776G>A (p.Arg259Gln)	Inborn genetic diseases [RCV004968923]	likely benign	16	2759604	2759604	Human	1	name
597632823	CV3611584	single nucleotide variant	NM_016333.4(SRRM2):c.868G>A (p.Ala290Thr)	Inborn genetic diseases [RCV004968925]	likely benign	16	2760335	2760335	Human	1	name
597632847	CV3611591	single nucleotide variant	NM_016333.4(SRRM2):c.407G>A (p.Arg136His)	Inborn genetic diseases [RCV004968932]	uncertain significance	16	2757837	2757837	Human	1	name
597632855	CV3611593	single nucleotide variant	NM_016333.4(SRRM2):c.454G>A (p.Asp152Asn)	Inborn genetic diseases [RCV004968934]	uncertain significance	16	2757884	2757884	Human	1	name
597632888	CV3611603	single nucleotide variant	NM_016333.4(SRRM2):c.629A>G (p.Lys210Arg)	Inborn genetic diseases [RCV004968944]	uncertain significance	16	2759020	2759020	Human	1	name
597632921	CV3611614	single nucleotide variant	NM_016333.4(SRRM2):c.959G>A (p.Arg320Gln)	Inborn genetic diseases [RCV004968954]	likely benign	16	2760426	2760426	Human	1	name
597632963	CV3611627	single nucleotide variant	NM_016333.4(SRRM2):c.404T>C (p.Leu135Pro)	Inborn genetic diseases [RCV004968967]	uncertain significance	16	2757834	2757834	Human	1	name
597632969	CV3611629	single nucleotide variant	NM_016333.4(SRRM2):c.974A>C (p.Glu325Ala)	Inborn genetic diseases [RCV004968969]	uncertain significance	16	2760441	2760441	Human	1	name
597632990	CV3611635	single nucleotide variant	NM_016333.4(SRRM2):c.362C>G (p.Thr121Ser)	Inborn genetic diseases [RCV004968975]	uncertain significance	16	2757792	2757792	Human	1	name
597779378	CV3611659	single nucleotide variant	NM_194286.4(SRRM4):c.386C>T (p.Ser129Leu)	not specified [RCV004873523]	uncertain significance	12	119116957	119116957	Human		name
597779381	CV3611660	single nucleotide variant	NM_194286.4(SRRM4):c.695A>G (p.Asp232Gly)	not specified [RCV004873524]	uncertain significance	12	119130758	119130758	Human		name
597779385	CV3611661	single nucleotide variant	NM_194286.4(SRRM4):c.551G>A (p.Arg184His)	not specified [RCV004873525]	uncertain significance	12	119125416	119125416	Human		name
597779600	CV3611673	single nucleotide variant	NM_015908.6(SRRT):c.1809G>C (p.Glu603Asp)	not specified [RCV004873532]	uncertain significance	7	100886956	100886956	Human		name
597779596	CV3611674	single nucleotide variant	NM_015908.6(SRRT):c.1957C>T (p.Arg653Cys)	not specified [RCV004873533]	uncertain significance	7	100887182	100887182	Human		name
597681077	CV3611675	single nucleotide variant	NM_015908.6(SRRT):c.1013A>G (p.Lys338Arg)	not specified [RCV004857490]	uncertain significance	7	100884810	100884810	Human		name
597779588	CV3611677	single nucleotide variant	NM_015908.6(SRRT):c.1510G>A (p.Val504Ile)	not specified [RCV004873535]	uncertain significance	7	100886298	100886298	Human		name
597681086	CV3611678	single nucleotide variant	NM_015908.6(SRRT):c.1793A>G (p.Asn598Ser)	not specified [RCV004857491]	uncertain significance	7	100886940	100886940	Human		name
597779584	CV3611679	single nucleotide variant	NM_015908.6(SRRT):c.2185C>T (p.Arg729Cys)	not specified [RCV004873536]	uncertain significance	7	100887718	100887718	Human		name
597779574	CV3611682	single nucleotide variant	NM_015908.6(SRRT):c.2030G>A (p.Arg677Gln)	not specified [RCV004873539]	uncertain significance	7	100887374	100887374	Human		name
597681095	CV3611684	single nucleotide variant	NM_015908.6(SRRT):c.2015C>T (p.Pro672Leu)	not specified [RCV004857492]	uncertain significance	7	100887359	100887359	Human		name
598129041	CV3886844	single nucleotide variant	NM_016333.4(SRRM2):c.6981C>T (p.Ser2327=)	not provided [RCV005244504]	likely benign	16	2767509	2767509	Human		name
598128517	CV3887721	single nucleotide variant	NM_016333.4(SRRM2):c.7071C>T (p.Thr2357=)	not provided [RCV005243895]	likely benign	16	2767599	2767599	Human		name
598218211	CV3891633	single nucleotide variant	NM_016333.4(SRRM2):c.733C>T (p.Arg245Ter)	Intellectual developmental disorder, autosomal dominant 72 [RCV005252475]	likely pathogenic	16	2759395	2759395	Human	1	name
598223891	CV3894060	single nucleotide variant	NM_016333.4(SRRM2):c.3015G>A (p.Pro1005=)	not provided [RCV005257303]	likely benign	16	2763543	2763543	Human		name
598173295	CV3912330	single nucleotide variant	NM_001013694.3(SRRD):c.61C>T (p.Arg21Cys)	not specified [RCV005285155]	uncertain significance	22	26483951	26483951	Human		name
598173316	CV3912333	single nucleotide variant	NM_005839.4(SRRM1):c.883C>T (p.His295Tyr)	not specified [RCV005285158]	uncertain significance	1	24652591	24652591	Human		name
598173333	CV3912336	single nucleotide variant	NM_005839.4(SRRM1):c.623G>A (p.Arg208Gln)	not specified [RCV005285161]	uncertain significance	1	24651510	24651510	Human		name
598212915	CV3912337	single nucleotide variant	NM_005839.4(SRRM1):c.440A>C (p.Gln147Pro)	not specified [RCV005271030]	uncertain significance	1	24650005	24650005	Human		name
598212951	CV3912400	single nucleotide variant	NM_016333.4(SRRM2):c.349G>T (p.Ala117Ser)	Inborn genetic diseases [RCV005271038]	uncertain significance	16	2757578	2757578	Human	1	name
598173591	CV3912403	single nucleotide variant	NM_016333.4(SRRM2):c.613C>T (p.Pro205Ser)	Inborn genetic diseases [RCV005285219]	uncertain significance	16	2759004	2759004	Human	1	name
598173608	CV3912407	single nucleotide variant	NM_016333.4(SRRM2):c.998G>C (p.Ser333Thr)	Inborn genetic diseases [RCV005285223]	uncertain significance	16	2760465	2760465	Human	1	name
598173652	CV3912417	single nucleotide variant	NM_194286.4(SRRM4):c.521G>A (p.Arg174Gln)	not specified [RCV005285231]	uncertain significance	12	119125386	119125386	Human		name
598173670	CV3912421	single nucleotide variant	NM_194286.4(SRRM4):c.609G>C (p.Glu203Asp)	not specified [RCV005285234]	uncertain significance	12	119125474	119125474	Human		name
598173682	CV3912423	single nucleotide variant	NM_194286.4(SRRM4):c.784G>C (p.Gly262Arg)	not specified [RCV005285236]	uncertain significance	12	119145393	119145393	Human		name
598173692	CV3912426	single nucleotide variant	NM_194286.4(SRRM4):c.611G>A (p.Ser204Asn)	not specified [RCV005285238]	uncertain significance	12	119125476	119125476	Human		name
598173778	CV3922804	single nucleotide variant	NM_015908.6(SRRT):c.1544A>G (p.Gln515Arg)	not specified [RCV005285251]	uncertain significance	7	100886332	100886332	Human		name
598173786	CV3922805	single nucleotide variant	NM_015908.6(SRRT):c.1523A>T (p.Asn508Ile)	not specified [RCV005285252]	uncertain significance	7	100886311	100886311	Human		name
598173797	CV3922807	single nucleotide variant	NM_015908.6(SRRT):c.2220T>G (p.Ile740Met)	not specified [RCV005285254]	uncertain significance	7	100887753	100887753	Human		name
598173804	CV3922808	single nucleotide variant	NM_015908.6(SRRT):c.2431G>T (p.Gly811Cys)	not specified [RCV005285255]	uncertain significance	7	100888259	100888259	Human		name
598173818	CV3922810	single nucleotide variant	NM_015908.6(SRRT):c.2480C>G (p.Ala827Gly)	not specified [RCV005285257]	uncertain significance	7	100888308	100888308	Human		name
598173824	CV3922811	single nucleotide variant	NM_015908.6(SRRT):c.2413A>T (p.Ile805Phe)	not specified [RCV005285258]	uncertain significance	7	100888128	100888128	Human		name
598173831	CV3922812	single nucleotide variant	NM_015908.6(SRRT):c.1802G>A (p.Arg601Gln)	not specified [RCV005285259]	uncertain significance	7	100886949	100886949	Human		name
598173844	CV3922814	single nucleotide variant	NM_015908.6(SRRT):c.2329C>T (p.Leu777Phe)	not specified [RCV005285261]	uncertain significance	7	100888044	100888044	Human		name
617152491	CV4020740	single nucleotide variant	NM_016333.4(SRRM2):c.7902T>C (p.Ser2634=)	not provided [RCV005428493]	likely benign	16	2769165	2769165	Human		name
617153169	CV4021144	single nucleotide variant	NM_016333.4(SRRM2):c.8019G>C (p.Arg2673=)	not provided [RCV005428897]	likely benign	16	2769282	2769282	Human		name
15161384	CV703594	single nucleotide variant	NM_016333.4(SRRM2):c.7656C>G (p.Ser2552=)	not provided [RCV000947663]	likely benign	16	2768184	2768184	Human		name
15167038	CV703595	single nucleotide variant	NM_016333.4(SRRM2):c.7899T>C (p.Ser2633=)	not provided [RCV000948969]	benign\|likely benign	16	2769162	2769162	Human		name
15135616	CV714826	single nucleotide variant	NM_016333.4(SRRM2):c.991C>T (p.Pro331Ser)	not provided [RCV000965317]	benign	16	2760458	2760458	Human		name
15135630	CV714835	single nucleotide variant	NM_016333.4(SRRM2):c.7641A>G (p.Ser2547=)	not provided [RCV000965319]	benign	16	2768169	2768169	Human		name
15194034	CV726523	single nucleotide variant	NM_016333.4(SRRM2):c.931A>G (p.Ser311Gly)	not provided [RCV000889107]	benign	16	2760398	2760398	Human		name
15189859	CV726528	single nucleotide variant	NM_016333.4(SRRM2):c.4245G>A (p.Ser1415=)	not provided [RCV000887940]	likely benign	16	2764773	2764773	Human		name
15112967	CV726529	single nucleotide variant	NM_016333.4(SRRM2):c.5028A>G (p.Pro1676=)	not provided [RCV000894571]	benign	16	2765556	2765556	Human		name
15197774	CV726534	single nucleotide variant	NM_016333.4(SRRM2):c.7647G>A (p.Ser2549=)	not provided [RCV000890159]	benign	16	2768175	2768175	Human		name
15181393	CV740055	single nucleotide variant	NM_016333.4(SRRM2):c.3246A>G (p.Glu1082=)	not provided [RCV000907573]	likely benign	16	2763774	2763774	Human		name
15117779	CV740056	single nucleotide variant	NM_016333.4(SRRM2):c.3402G>A (p.Glu1134=)	not provided [RCV000895436]	likely benign	16	2763930	2763930	Human		name
15117698	CV740057	single nucleotide variant	NM_016333.4(SRRM2):c.7452G>A (p.Thr2484=)	not provided [RCV000895422]	benign	16	2767980	2767980	Human		name
15138334	CV740058	single nucleotide variant	NM_016333.4(SRRM2):c.7662C>T (p.Ser2554=)	not provided [RCV000898961]	likely benign	16	2768190	2768190	Human		name
15162721	CV740059	single nucleotide variant	NM_016333.4(SRRM2):c.7878T>C (p.Ser2626=)	not provided [RCV000903616]	likely benign	16	2769141	2769141	Human		name
15132017	CV740060	single nucleotide variant	NM_016333.4(SRRM2):c.7935G>A (p.Ser2645=)	not provided [RCV000897881]	likely benign	16	2769198	2769198	Human		name
15197252	CV755052	single nucleotide variant	NM_016333.4(SRRM2):c.5364A>G (p.Arg1788=)	not provided [RCV000911924]	likely benign	16	2765892	2765892	Human		name
15202875	CV755053	single nucleotide variant	NM_016333.4(SRRM2):c.5856A>G (p.Pro1952=)	not provided [RCV000913590]	benign	16	2766384	2766384	Human		name
15196575	CV755054	single nucleotide variant	NM_016333.4(SRRM2):c.7101C>G (p.Thr2367=)	not provided [RCV000911734]	likely benign	16	2767629	2767629	Human		name
8627789	CV82933	single nucleotide variant	NM_016333.3(SRRM2):c.390G>C (p.Lys130Asn)	Malignant melanoma [RCV000063013]	not provided	16	2757820	2757820	Human		name
8635745	CV90968	single nucleotide variant	NM_016333.3(SRRM2):c.5793C>T (p.Thr1931=)	Malignant melanoma [RCV000071066]	not provided	16	2766321	2766321	Human		name
8635746	CV90969	single nucleotide variant	NM_016333.3(SRRM2):c.6150C>T (p.Ile2050=)	Malignant melanoma [RCV000071067]	not provided	16	2766678	2766678	Human		name
150545246	CV1293067	single nucleotide variant	NM_016333.4(SRRM2):c.2410C>A (p.Pro804Thr)	not provided [RCV001762853]	benign	16	2762938	2762938	Human		name
151347913	CV1323771	single nucleotide variant	NM_016333.4(SRRM2):c.1882C>T (p.Arg628Ter)	Neurodevelopmental disorder [RCV001807705]	pathogenic	16	2762410	2762410	Human	1	name
151347919	CV1323777	duplication	NM_016333.4(SRRM2):c.6709dup (p.Ala2237fs)	Intellectual developmental disorder, autosomal dominant 72 [RCV003238151]\|Neurodevelopmental disorder [RCV001807711]	pathogenic	16	2767236	2767237	Human	2	name
152980011	CV1678346	single nucleotide variant	NM_016333.4(SRRM2):c.1037C>T (p.Ser346Phe)	not provided [RCV005242208]\|not specified [RCV002246851]	benign	16	2761565	2761565	Human		name
156114360	CV2173837	single nucleotide variant	NM_016333.4(SRRM2):c.1964G>A (p.Arg655His)	not provided [RCV003055214]	uncertain significance	16	2762492	2762492	Human		name
156369132	CV2193901	single nucleotide variant	NM_005839.4(SRRM1):c.1709G>A (p.Arg570His)	not specified [RCV004074637]	uncertain significance	1	24666895	24666895	Human		name
156314612	CV2196669	single nucleotide variant	NM_016333.4(SRRM2):c.1784G>A (p.Arg595Gln)	Inborn genetic diseases [RCV002648491]	uncertain significance	16	2762312	2762312	Human	1	name
155917484	CV2198947	single nucleotide variant	NM_016333.4(SRRM2):c.2954C>G (p.Pro985Arg)	Inborn genetic diseases [RCV002682351]	uncertain significance	16	2763482	2763482	Human	1	name
156368382	CV2199834	single nucleotide variant	NM_016333.4(SRRM2):c.2525C>G (p.Pro842Arg)	Inborn genetic diseases [RCV002652412]	uncertain significance	16	2763053	2763053	Human	1	name
156319673	CV2200567	single nucleotide variant	NM_016333.4(SRRM2):c.2324T>C (p.Leu775Ser)	Inborn genetic diseases [RCV002649050]	uncertain significance	16	2762852	2762852	Human	1	name
156167433	CV2201008	single nucleotide variant	NM_005839.4(SRRM1):c.2327C>T (p.Pro776Leu)	not specified [RCV004074773]	uncertain significance	1	24670242	24670242	Human		name
155918998	CV2206211	single nucleotide variant	NM_016333.4(SRRM2):c.2257C>G (p.Arg753Gly)	Inborn genetic diseases [RCV002682569]	uncertain significance	16	2762785	2762785	Human	1	name
156377883	CV2207581	single nucleotide variant	NM_016333.4(SRRM2):c.1242G>T (p.Gln414His)	Inborn genetic diseases [RCV002678107]	uncertain significance	16	2761770	2761770	Human	1	name
156094653	CV2213430	single nucleotide variant	NM_005839.4(SRRM1):c.1999A>G (p.Ser667Gly)	not specified [RCV004087409]	uncertain significance	1	24669382	24669382	Human		name
155971441	CV2214121	single nucleotide variant	NM_016333.4(SRRM2):c.2042C>T (p.Ser681Leu)	Inborn genetic diseases [RCV002687536]	uncertain significance	16	2762570	2762570	Human	1	name
156032182	CV2218246	single nucleotide variant	NM_016333.4(SRRM2):c.1774C>T (p.Arg592Trp)	Inborn genetic diseases [RCV002691659]	uncertain significance	16	2762302	2762302	Human	1	name
156327095	CV2219768	single nucleotide variant	NM_016333.4(SRRM2):c.1241A>G (p.Gln414Arg)	Inborn genetic diseases [RCV002717541]	uncertain significance	16	2761769	2761769	Human	1	name
155925078	CV2220430	single nucleotide variant	NM_016333.4(SRRM2):c.2443A>G (p.Ser815Gly)	Inborn genetic diseases [RCV002727977]	uncertain significance	16	2762971	2762971	Human	1	name
156281465	CV2220546	single nucleotide variant	NM_005839.4(SRRM1):c.1601G>A (p.Arg534Gln)	not specified [RCV004097751]	uncertain significance	1	24662777	24662777	Human		name
155934977	CV2225462	single nucleotide variant	NM_016333.4(SRRM2):c.2578G>A (p.Ala860Thr)	Inborn genetic diseases [RCV002729319]	uncertain significance	16	2763106	2763106	Human	1	name
156189471	CV2226843	single nucleotide variant	NM_005839.4(SRRM1):c.2420G>A (p.Gly807Asp)	not specified [RCV004103828]	uncertain significance	1	24671405	24671405	Human		name
156286869	CV2229551	single nucleotide variant	NM_016333.4(SRRM2):c.2813C>G (p.Pro938Arg)	Inborn genetic diseases [RCV002747475]	uncertain significance	16	2763341	2763341	Human	1	name
156237226	CV2235650	single nucleotide variant	NM_005839.4(SRRM1):c.1096C>T (p.Arg366Cys)	not specified [RCV004111795]	uncertain significance	1	24654910	24654910	Human		name
156183739	CV2243354	single nucleotide variant	NM_005839.4(SRRM1):c.2332A>G (p.Thr778Ala)	not specified [RCV004112048]	uncertain significance	1	24670247	24670247	Human		name
156300496	CV2244916	single nucleotide variant	NM_005839.4(SRRM1):c.1886C>T (p.Pro629Leu)	not specified [RCV004104665]	uncertain significance	1	24669269	24669269	Human		name
155943242	CV2244952	single nucleotide variant	NM_016333.4(SRRM2):c.1075A>G (p.Thr359Ala)	Inborn genetic diseases [RCV002752198]\|not specified [RCV005240668]	uncertain significance	16	2761603	2761603	Human	1	name
156081348	CV2256087	single nucleotide variant	NM_016333.4(SRRM2):c.1118G>A (p.Arg373Gln)	Inborn genetic diseases [RCV002783752]	likely benign	16	2761646	2761646	Human	1	name
156001425	CV2257851	single nucleotide variant	NM_016333.4(SRRM2):c.2038C>T (p.Arg680Cys)	Inborn genetic diseases [RCV002794549]	uncertain significance	16	2762566	2762566	Human	1	name
156303254	CV2258809	single nucleotide variant	NM_016333.4(SRRM2):c.1171G>A (p.Val391Met)	Inborn genetic diseases [RCV002808298]	uncertain significance	16	2761699	2761699	Human	1	name
156212052	CV2259924	single nucleotide variant	NM_016333.4(SRRM2):c.1996C>T (p.Arg666Cys)	Inborn genetic diseases [RCV002804141]	uncertain significance	16	2762524	2762524	Human	1	name
155947485	CV2262685	single nucleotide variant	NM_016333.4(SRRM2):c.2440C>T (p.Arg814Cys)	Inborn genetic diseases [RCV002839996]	uncertain significance	16	2762968	2762968	Human	1	name
156058512	CV2262899	single nucleotide variant	NM_005839.4(SRRM1):c.1288G>C (p.Val430Leu)	not specified [RCV004125043]	uncertain significance	1	24655102	24655102	Human		name
155914875	CV2264713	single nucleotide variant	NM_016333.4(SRRM2):c.1189G>A (p.Ala397Thr)	Inborn genetic diseases [RCV002858799]	uncertain significance	16	2761717	2761717	Human	1	name
155906209	CV2283421	single nucleotide variant	NM_016333.4(SRRM2):c.1883G>A (p.Arg628Gln)	Inborn genetic diseases [RCV002837258]	uncertain significance	16	2762411	2762411	Human	1	name
156250116	CV2286677	single nucleotide variant	NM_016333.4(SRRM2):c.2029C>T (p.Arg677Cys)	Inborn genetic diseases [RCV002854784]	uncertain significance	16	2762557	2762557	Human	1	name
156000718	CV2287417	single nucleotide variant	NM_016333.4(SRRM2):c.1190C>T (p.Ala397Val)	Inborn genetic diseases [RCV002865329]	uncertain significance	16	2761718	2761718	Human	1	name
156075681	CV2291435	single nucleotide variant	NM_005839.4(SRRM1):c.1241C>T (p.Ser414Phe)	not specified [RCV004155764]	uncertain significance	1	24655055	24655055	Human		name
156286250	CV2292065	single nucleotide variant	NM_194286.4(SRRM4):c.1228C>T (p.Pro410Ser)	not specified [RCV004160337]	uncertain significance	12	119151168	119151168	Human		name
156293553	CV2293068	single nucleotide variant	NM_016333.4(SRRM2):c.2632G>A (p.Asp878Asn)	Inborn genetic diseases [RCV002879064]	uncertain significance	16	2763160	2763160	Human	1	name
156099423	CV2294637	single nucleotide variant	NM_016333.4(SRRM2):c.1108C>G (p.Leu370Val)	Inborn genetic diseases [RCV002870348]	uncertain significance	16	2761636	2761636	Human	1	name
156205526	CV2297887	single nucleotide variant	NM_194286.4(SRRM4):c.1643G>T (p.Ser548Ile)	not specified [RCV004157823]	uncertain significance	12	119156605	119156605	Human		name
156288878	CV2299257	single nucleotide variant	NM_016333.4(SRRM2):c.2977A>G (p.Ile993Val)	Inborn genetic diseases [RCV002878714]	uncertain significance	16	2763505	2763505	Human	1	name
155906831	CV2303390	single nucleotide variant	NM_016333.4(SRRM2):c.2770T>C (p.Ser924Pro)	Inborn genetic diseases [RCV002901930]	uncertain significance	16	2763298	2763298	Human	1	name
155958236	CV2304258	single nucleotide variant	NM_016333.4(SRRM2):c.1214C>T (p.Pro405Leu)	Inborn genetic diseases [RCV002905779]	uncertain significance	16	2761742	2761742	Human	1	name
156047218	CV2304328	single nucleotide variant	NM_016333.4(SRRM2):c.2302A>G (p.Lys768Glu)	Inborn genetic diseases [RCV002910987]	uncertain significance	16	2762830	2762830	Human	1	name
156070110	CV2325052	single nucleotide variant	NM_005839.4(SRRM1):c.2374C>T (p.Pro792Ser)	not specified [RCV004175593]	uncertain significance	1	24670289	24670289	Human		name
156173478	CV2326854	single nucleotide variant	NM_016333.4(SRRM2):c.2012C>T (p.Ser671Phe)	Inborn genetic diseases [RCV002929970]	uncertain significance	16	2762540	2762540	Human	1	name
156359093	CV2328139	single nucleotide variant	NM_016333.4(SRRM2):c.2620G>C (p.Glu874Gln)	Inborn genetic diseases [RCV002941066]	uncertain significance	16	2763148	2763148	Human	1	name
156188768	CV2328689	single nucleotide variant	NM_005839.4(SRRM1):c.2344C>T (p.Pro782Ser)	not specified [RCV004177928]	uncertain significance	1	24670259	24670259	Human		name
156277941	CV2330878	single nucleotide variant	NM_016333.4(SRRM2):c.2809A>G (p.Ser937Gly)	Inborn genetic diseases [RCV002960767]	uncertain significance	16	2763337	2763337	Human	1	name
156086679	CV2341070	single nucleotide variant	NM_016333.4(SRRM2):c.1060C>G (p.Pro354Ala)	Inborn genetic diseases [RCV002926490]	uncertain significance	16	2761588	2761588	Human	1	name
156068787	CV2341071	single nucleotide variant	NM_016333.4(SRRM2):c.2332A>C (p.Ser778Arg)	Inborn genetic diseases [RCV002951117]	uncertain significance	16	2762860	2762860	Human	1	name
155983951	CV2344365	single nucleotide variant	NM_194286.4(SRRM4):c.1651C>T (p.Arg551Trp)	not specified [RCV004195119]	uncertain significance	12	119156613	119156613	Human		name
155926146	CV2348632	single nucleotide variant	NM_194286.4(SRRM4):c.1108G>A (p.Glu370Lys)	not specified [RCV004195856]	uncertain significance	12	119151048	119151048	Human		name
156346644	CV2353670	single nucleotide variant	NM_005839.4(SRRM1):c.2003G>A (p.Arg668His)	not specified [RCV004201687]	uncertain significance	1	24669386	24669386	Human		name
156254920	CV2358900	single nucleotide variant	NM_194286.4(SRRM4):c.1381A>T (p.Ser461Cys)	not specified [RCV004212239]	uncertain significance	12	119153639	119153639	Human		name
156160171	CV2361731	single nucleotide variant	NM_005839.4(SRRM1):c.2098G>C (p.Val700Leu)	not specified [RCV004223210]	uncertain significance	1	24669481	24669481	Human		name
155926046	CV2365687	single nucleotide variant	NM_016333.4(SRRM2):c.2726C>T (p.Pro909Leu)	Inborn genetic diseases [RCV002992625]	uncertain significance	16	2763254	2763254	Human	1	name
156099961	CV2367459	single nucleotide variant	NM_005839.4(SRRM1):c.2276C>T (p.Pro759Leu)	not specified [RCV004211400]	uncertain significance	1	24670191	24670191	Human		name
156338620	CV2370693	single nucleotide variant	NM_016333.4(SRRM2):c.1715G>A (p.Arg572Lys)	Inborn genetic diseases [RCV002674171]	uncertain significance	16	2762243	2762243	Human	1	name
156037755	CV2374099	single nucleotide variant	NM_005839.4(SRRM1):c.1757C>T (p.Pro586Leu)	not specified [RCV004227213]	uncertain significance	1	24669140	24669140	Human		name
155996085	CV2375896	single nucleotide variant	NM_001013694.3(SRRD):c.116C>T (p.Ala39Val)	not specified [RCV004217738]	uncertain significance	22	26484006	26484006	Human		name
156049128	CV2378175	single nucleotide variant	NM_016333.4(SRRM2):c.1795C>T (p.Pro599Ser)	Inborn genetic diseases [RCV002704839]	uncertain significance	16	2762323	2762323	Human	1	name
156209230	CV2382598	single nucleotide variant	NM_016333.4(SRRM2):c.1942C>T (p.Arg648Cys)	Inborn genetic diseases [RCV002743961]	uncertain significance	16	2762470	2762470	Human	1	name
156133287	CV2382922	single nucleotide variant	NM_016333.4(SRRM2):c.2272C>T (p.Arg758Trp)	Inborn genetic diseases [RCV002708604]	uncertain significance	16	2762800	2762800	Human	1	name
156106023	CV2387053	single nucleotide variant	NM_005839.4(SRRM1):c.2012G>A (p.Arg671Gln)	not specified [RCV004226798]	uncertain significance	1	24669395	24669395	Human		name
156106869	CV2387103	single nucleotide variant	NM_194286.4(SRRM4):c.1628G>C (p.Arg543Pro)	not specified [RCV004226839]	uncertain significance	12	119156590	119156590	Human		name
156245578	CV2396699	single nucleotide variant	NM_005839.4(SRRM1):c.2393C>T (p.Pro798Leu)	not specified [RCV004233855]	uncertain significance	1	24670308	24670308	Human		name
155933822	CV2399395	single nucleotide variant	NM_016333.4(SRRM2):c.2713C>T (p.Pro905Ser)	Inborn genetic diseases [RCV002774688]	uncertain significance	16	2763241	2763241	Human	1	name
156170793	CV2400613	single nucleotide variant	NM_016333.4(SRRM2):c.2129G>A (p.Arg710His)	Inborn genetic diseases [RCV002765276]	uncertain significance	16	2762657	2762657	Human	1	name
156004795	CV2401020	single nucleotide variant	NM_016333.4(SRRM2):c.2747A>G (p.Gln916Arg)	Inborn genetic diseases [RCV002779703]	uncertain significance	16	2763275	2763275	Human	1	name
243049785	CV2417161	single nucleotide variant	NM_016333.4(SRRM2):c.2080T>A (p.Ser694Thr)	not provided [RCV003152032]	uncertain significance	16	2762608	2762608	Human		name
329381924	CV2424267	single nucleotide variant	NM_005839.4(SRRM1):c.1953A>C (p.Arg651Ser)	not specified [RCV004252178]	uncertain significance	1	24669336	24669336	Human		name
329381928	CV2424268	single nucleotide variant	NM_005839.4(SRRM1):c.1952G>T (p.Arg651Ile)	not specified [RCV004252179]	uncertain significance	1	24669335	24669335	Human		name
329357831	CV2427852	single nucleotide variant	NM_001013694.3(SRRD):c.119C>T (p.Ala40Val)	not specified [RCV004252625]	uncertain significance	22	26484009	26484009	Human		name
329370642	CV2435584	single nucleotide variant	NM_016333.4(SRRM2):c.1796C>T (p.Pro599Leu)	Inborn genetic diseases [RCV003184209]	uncertain significance	16	2762324	2762324	Human	1	name
329377062	CV2435795	single nucleotide variant	NM_001013694.3(SRRD):c.140C>T (p.Ala47Val)	not specified [RCV004253419]	uncertain significance	22	26484030	26484030	Human		name
329361526	CV2437598	single nucleotide variant	NM_016333.4(SRRM2):c.2633A>T (p.Asp878Val)	Inborn genetic diseases [RCV003180446]	uncertain significance	16	2763161	2763161	Human	1	name
329399915	CV2444374	single nucleotide variant	NM_016333.4(SRRM2):c.1868G>A (p.Arg623His)	Inborn genetic diseases [RCV003196941]\|Intellectual developmental disorder, autosomal dominant 72 [RCV004786895]	uncertain significance	16	2762396	2762396	Human	2	name
329360044	CV2446538	single nucleotide variant	NM_016333.4(SRRM2):c.1721G>A (p.Arg574His)	Inborn genetic diseases [RCV003179699]	uncertain significance	16	2762249	2762249	Human	1	name
329392885	CV2449357	single nucleotide variant	NM_016333.4(SRRM2):c.2915C>T (p.Ser972Phe)	Inborn genetic diseases [RCV003192890]	uncertain significance	16	2763443	2763443	Human	1	name
329367501	CV2456871	single nucleotide variant	NM_016333.4(SRRM2):c.1051A>G (p.Ser351Gly)	Inborn genetic diseases [RCV003208320]	uncertain significance	16	2761579	2761579	Human	1	name
329351689	CV2459273	single nucleotide variant	NM_016333.4(SRRM2):c.2258G>T (p.Arg753Leu)	Inborn genetic diseases [RCV003199970]	uncertain significance	16	2762786	2762786	Human	1	name
329361428	CV2459681	single nucleotide variant	NM_005839.4(SRRM1):c.1145C>T (p.Pro382Leu)	not specified [RCV004277108]	uncertain significance	1	24654959	24654959	Human		name
329397037	CV2468433	single nucleotide variant	NM_016333.4(SRRM2):c.2863C>T (p.Pro955Ser)	Inborn genetic diseases [RCV003219836]	uncertain significance	16	2763391	2763391	Human	1	name
329393018	CV2469173	single nucleotide variant	NM_016333.4(SRRM2):c.2801C>T (p.Ser934Phe)	Inborn genetic diseases [RCV003218069]	uncertain significance	16	2763329	2763329	Human	1	name
329398600	CV2471212	single nucleotide variant	NM_194286.4(SRRM4):c.1495G>C (p.Asp499His)	not specified [RCV004278453]	uncertain significance	12	119154346	119154346	Human		name
329352086	CV2476621	single nucleotide variant	NM_016333.4(SRRM2):c.1888C>T (p.Pro630Ser)	not provided [RCV003222853]	uncertain significance	16	2762416	2762416	Human		name
329351021	CV2477851	single nucleotide variant	NM_016333.4(SRRM2):c.2717G>A (p.Arg906Lys)	not provided [RCV003223964]	uncertain significance	16	2763245	2763245	Human		name
329848658	CV2523405	single nucleotide variant	NM_016333.4(SRRM2):c.2236A>G (p.Ser746Gly)	not provided [RCV003225419]	uncertain significance	16	2762764	2762764	Human		name
401766595	CV2676219	single nucleotide variant	NM_016333.4(SRRM2):c.1436G>A (p.Arg479His)	Inborn genetic diseases [RCV003259545]	uncertain significance	16	2761964	2761964	Human	1	name
401752453	CV2682825	single nucleotide variant	NM_016333.4(SRRM2):c.2597C>T (p.Thr866Met)	Inborn genetic diseases [RCV003254337]	uncertain significance	16	2763125	2763125	Human	1	name
401734919	CV2690714	single nucleotide variant	NM_016333.4(SRRM2):c.1739G>A (p.Arg580His)	Inborn genetic diseases [RCV003249614]	uncertain significance	16	2762267	2762267	Human	1	name
401774570	CV2691783	single nucleotide variant	NM_005839.4(SRRM1):c.1898G>A (p.Arg633Gln)	not specified [RCV004299235]	uncertain significance	1	24669281	24669281	Human		name
401745135	CV2693188	single nucleotide variant	NM_016333.4(SRRM2):c.2201C>A (p.Ser734Tyr)	Inborn genetic diseases [RCV003241729]	uncertain significance	16	2762729	2762729	Human	1	name
401728940	CV2693934	single nucleotide variant	NM_016333.4(SRRM2):c.1846C>T (p.Arg616Trp)	Inborn genetic diseases [RCV003270774]	uncertain significance	16	2762374	2762374	Human	1	name
401742091	CV2697696	single nucleotide variant	NM_001013694.3(SRRD):c.173A>G (p.Asp58Gly)	not specified [RCV004300435]	uncertain significance	22	26484063	26484063	Human		name
401737359	CV2699736	single nucleotide variant	NM_005839.4(SRRM1):c.2252G>C (p.Arg751Pro)	not specified [RCV004308074]	uncertain significance	1	24670167	24670167	Human		name
401778545	CV2709251	single nucleotide variant	NM_016333.4(SRRM2):c.2744C>T (p.Pro915Leu)	Inborn genetic diseases [RCV003287106]	uncertain significance	16	2763272	2763272	Human	1	name
401780518	CV2716813	single nucleotide variant	NM_016333.4(SRRM2):c.2933A>G (p.Lys978Arg)	Inborn genetic diseases [RCV003288073]\|not provided [RCV003427728]	uncertain significance	16	2763461	2763461	Human	1	name
401767264	CV2718435	single nucleotide variant	NM_005839.4(SRRM1):c.2594C>T (p.Ala865Val)	not specified [RCV004318253]	likely benign	1	24671579	24671579	Human		name
401783449	CV2723583	single nucleotide variant	NM_016333.4(SRRM2):c.2654C>T (p.Thr885Ile)	Inborn genetic diseases [RCV003309589]	uncertain significance	16	2763182	2763182	Human	1	name
401799214	CV2741792	single nucleotide variant	NM_016333.4(SRRM2):c.2086A>G (p.Thr696Ala)	not provided [RCV003323200]	uncertain significance	16	2762614	2762614	Human		name
401798535	CV2742473	deletion	NM_016333.4(SRRM2):c.8103del (p.Ser2702fs)	not provided [RCV003324917]	uncertain significance	16	2770431	2770431	Human		name
401892888	CV2758189	single nucleotide variant	NM_016333.4(SRRM2):c.1541G>A (p.Arg514His)	Inborn genetic diseases [RCV003355948]	uncertain significance	16	2762069	2762069	Human	1	name
401893393	CV2765285	single nucleotide variant	NM_016333.4(SRRM2):c.1934G>A (p.Gly645Asp)	Inborn genetic diseases [RCV003356228]	uncertain significance	16	2762462	2762462	Human	1	name
401887128	CV2773180	single nucleotide variant	NM_005839.4(SRRM1):c.2509G>A (p.Val837Met)	not specified [RCV004351905]	uncertain significance	1	24671494	24671494	Human		name
401873360	CV2776544	single nucleotide variant	NM_016333.4(SRRM2):c.2002C>T (p.Arg668Cys)	Inborn genetic diseases [RCV003361992]	uncertain significance	16	2762530	2762530	Human	1	name
401899101	CV2783652	single nucleotide variant	NM_016333.4(SRRM2):c.2843G>A (p.Arg948Gln)	Inborn genetic diseases [RCV003377285]	uncertain significance	16	2763371	2763371	Human	1	name
401867950	CV2791001	single nucleotide variant	NM_016333.4(SRRM2):c.1832G>A (p.Arg611Gln)	Inborn genetic diseases [RCV003360369]	uncertain significance	16	2762360	2762360	Human	1	name
401911419	CV2810948	single nucleotide variant	NM_016333.4(SRRM2):c.1015G>A (p.Asp339Asn)	not provided [RCV003426534]	uncertain significance	16	2760482	2760482	Human		name
401934345	CV2810949	single nucleotide variant	NM_016333.4(SRRM2):c.1282A>G (p.Thr428Ala)	not provided [RCV003411234]	uncertain significance	16	2761810	2761810	Human		name
401911420	CV2810951	single nucleotide variant	NM_016333.4(SRRM2):c.2681C>T (p.Ser894Phe)	not provided [RCV003426535]	likely benign	16	2763209	2763209	Human		name
401938470	CV2810952	single nucleotide variant	NM_016333.4(SRRM2):c.2725C>T (p.Pro909Ser)	not provided [RCV003417591]	uncertain significance	16	2763253	2763253	Human		name
401916128	CV2829399	single nucleotide variant	NM_016333.4(SRRM2):c.1651A>G (p.Arg551Gly)	not provided [RCV003443248]	uncertain significance	16	2762179	2762179	Human		name
401914196	CV2830618	single nucleotide variant	NM_016333.4(SRRM2):c.2180C>G (p.Ser727Cys)	not provided [RCV003442356]	uncertain significance	16	2762708	2762708	Human		name
405173256	CV2853434	single nucleotide variant	NM_016333.4(SRRM2):c.2128C>A (p.Arg710Ser)	not provided [RCV003542499]	uncertain significance	16	2762656	2762656	Human		name
405072782	CV3034523	single nucleotide variant	NM_016333.4(SRRM2):c.1679G>A (p.Gly560Glu)	not provided [RCV003698419]	uncertain significance	16	2762207	2762207	Human		name
405203212	CV3116784	single nucleotide variant	NM_016333.4(SRRM2):c.2335C>G (p.Leu779Val)	not provided [RCV003822268]	uncertain significance	16	2762863	2762863	Human		name
405265427	CV3185653	single nucleotide variant	NM_016333.4(SRRM2):c.2220A>C (p.Arg740Ser)	not provided [RCV003886217]	benign	16	2762748	2762748	Human		name
405727140	CV3235241	deletion	NM_016333.4(SRRM2):c.4537del (p.Gln1513fs)	Neurodevelopmental disorder [RCV004018272]	likely pathogenic	16	2765060	2765060	Human	1	name
405702757	CV3326854	single nucleotide variant	NM_001110199.3(SRRM3):c.66C>G (p.Phe22Leu)	not specified [RCV004460636]	uncertain significance	7	76235132	76235132	Human		name
405702790	CV3326859	single nucleotide variant	NM_194286.4(SRRM4):c.1144C>T (p.Arg382Trp)	not specified [RCV004460641]	uncertain significance	12	119151084	119151084	Human		name
405702799	CV3326860	single nucleotide variant	NM_194286.4(SRRM4):c.1228C>G (p.Pro410Ala)	not specified [RCV004460642]	uncertain significance	12	119151168	119151168	Human		name
405702804	CV3326861	single nucleotide variant	NM_194286.4(SRRM4):c.1582G>A (p.Gly528Ser)	not specified [RCV004460643]	likely benign	12	119156544	119156544	Human		name
405702810	CV3326862	single nucleotide variant	NM_194286.4(SRRM4):c.1610A>G (p.Tyr537Cys)	not specified [RCV004460644]	uncertain significance	12	119156572	119156572	Human		name
405701912	CV3330673	single nucleotide variant	NM_001013694.3(SRRD):c.151C>A (p.Pro51Thr)	not specified [RCV004460513]	uncertain significance	22	26484041	26484041	Human		name
405701920	CV3330674	single nucleotide variant	NM_001013694.3(SRRD):c.296C>A (p.Ala99Asp)	not specified [RCV004460514]	uncertain significance	22	26488074	26488074	Human		name
405701956	CV3330679	single nucleotide variant	NM_005839.4(SRRM1):c.1619C>T (p.Thr540Ile)	not specified [RCV004460519]	uncertain significance	1	24662795	24662795	Human		name
405701964	CV3330680	single nucleotide variant	NM_005839.4(SRRM1):c.1675C>T (p.Arg559Trp)	not specified [RCV004460520]	uncertain significance	1	24666861	24666861	Human		name
405701973	CV3330681	single nucleotide variant	NM_005839.4(SRRM1):c.1736G>A (p.Arg579Gln)	not specified [RCV004460521]	uncertain significance	1	24666922	24666922	Human		name
405701979	CV3330682	single nucleotide variant	NM_005839.4(SRRM1):c.2021G>A (p.Arg674Gln)	not specified [RCV004460522]	uncertain significance	1	24669404	24669404	Human		name
405702031	CV3330689	single nucleotide variant	NM_016333.4(SRRM2):c.1022A>C (p.Asp341Ala)	Inborn genetic diseases [RCV004460529]	uncertain significance	16	2760489	2760489	Human	1	name
405702040	CV3330690	single nucleotide variant	NM_016333.4(SRRM2):c.1054C>T (p.Pro352Ser)	Inborn genetic diseases [RCV004460530]	uncertain significance	16	2761582	2761582	Human	1	name
405702045	CV3330691	single nucleotide variant	NM_016333.4(SRRM2):c.1165G>C (p.Glu389Gln)	Inborn genetic diseases [RCV004460531]\|not specified [RCV005241001]	uncertain significance	16	2761693	2761693	Human	1	name
405702058	CV3330693	single nucleotide variant	NM_016333.4(SRRM2):c.1285A>G (p.Lys429Glu)	Inborn genetic diseases [RCV004460533]	uncertain significance	16	2761813	2761813	Human	1	name
405702067	CV3330694	single nucleotide variant	NM_016333.4(SRRM2):c.1294C>T (p.Arg432Trp)	Inborn genetic diseases [RCV004460534]	uncertain significance	16	2761822	2761822	Human	1	name
405702075	CV3330695	single nucleotide variant	NM_016333.4(SRRM2):c.1441A>T (p.Met481Leu)	Inborn genetic diseases [RCV004460535]	uncertain significance	16	2761969	2761969	Human	1	name
405702083	CV3330696	single nucleotide variant	NM_016333.4(SRRM2):c.1646A>G (p.Gln549Arg)	Inborn genetic diseases [RCV004460536]	uncertain significance	16	2762174	2762174	Human	1	name
405702099	CV3330698	single nucleotide variant	NM_016333.4(SRRM2):c.1769C>T (p.Ala590Val)	Inborn genetic diseases [RCV004460538]	likely benign	16	2762297	2762297	Human	1	name
405702107	CV3330699	single nucleotide variant	NM_016333.4(SRRM2):c.1870A>G (p.Arg624Gly)	Inborn genetic diseases [RCV004460539]	uncertain significance	16	2762398	2762398	Human	1	name
405702112	CV3330700	single nucleotide variant	NM_016333.4(SRRM2):c.1898G>A (p.Arg633His)	Inborn genetic diseases [RCV004460540]	uncertain significance	16	2762426	2762426	Human	1	name
405702119	CV3330701	single nucleotide variant	NM_016333.4(SRRM2):c.1931G>A (p.Ser644Asn)	Inborn genetic diseases [RCV004460541]	uncertain significance	16	2762459	2762459	Human	1	name
405702125	CV3330702	single nucleotide variant	NM_016333.4(SRRM2):c.1993A>G (p.Arg665Gly)	Inborn genetic diseases [RCV004460542]	likely benign	16	2762521	2762521	Human	1	name
405702134	CV3330703	single nucleotide variant	NM_016333.4(SRRM2):c.2039G>A (p.Arg680His)	Inborn genetic diseases [RCV004460543]	uncertain significance	16	2762567	2762567	Human	1	name
405702142	CV3330704	single nucleotide variant	NM_016333.4(SRRM2):c.2099G>C (p.Gly700Ala)	Inborn genetic diseases [RCV004460544]	uncertain significance	16	2762627	2762627	Human	1	name
405702148	CV3330705	single nucleotide variant	NM_016333.4(SRRM2):c.2284C>T (p.Leu762Phe)	Inborn genetic diseases [RCV004460545]	uncertain significance	16	2762812	2762812	Human	1	name
405702154	CV3330706	single nucleotide variant	NM_016333.4(SRRM2):c.2290T>C (p.Ser764Pro)	Inborn genetic diseases [RCV004460546]	uncertain significance	16	2762818	2762818	Human	1	name
405702168	CV3330708	single nucleotide variant	NM_016333.4(SRRM2):c.2441G>A (p.Arg814His)	Inborn genetic diseases [RCV004460548]	uncertain significance	16	2762969	2762969	Human	1	name
405702174	CV3330709	single nucleotide variant	NM_016333.4(SRRM2):c.2503C>T (p.His835Tyr)	Inborn genetic diseases [RCV004460549]	uncertain significance	16	2763031	2763031	Human	1	name
405702181	CV3330710	single nucleotide variant	NM_016333.4(SRRM2):c.2804C>G (p.Ser935Cys)	Inborn genetic diseases [RCV004460550]	uncertain significance	16	2763332	2763332	Human	1	name
405702188	CV3330711	single nucleotide variant	NM_016333.4(SRRM2):c.2806C>G (p.Pro936Ala)	Inborn genetic diseases [RCV004460551]	uncertain significance	16	2763334	2763334	Human	1	name
405702194	CV3330712	single nucleotide variant	NM_016333.4(SRRM2):c.2929A>G (p.Thr977Ala)	Inborn genetic diseases [RCV004460552]	uncertain significance	16	2763457	2763457	Human	1	name
407428800	CV3410324	single nucleotide variant	NM_016333.4(SRRM2):c.1027A>G (p.Lys343Glu)	not specified [RCV004587931]	uncertain significance	16	2760494	2760494	Human		name
407427369	CV3410632	single nucleotide variant	NM_016333.4(SRRM2):c.1307C>G (p.Ser436Cys)	not specified [RCV004586279]	uncertain significance	16	2761835	2761835	Human		name
407426949	CV3411749	single nucleotide variant	NM_016333.4(SRRM2):c.2926G>T (p.Asp976Tyr)	not provided [RCV004590927]	uncertain significance	16	2763454	2763454	Human		name
407516716	CV3474815	single nucleotide variant	NM_005839.4(SRRM1):c.1268C>G (p.Thr423Arg)	not specified [RCV004675388]	uncertain significance	1	24655082	24655082	Human		name
407525967	CV3474819	single nucleotide variant	NM_005839.4(SRRM1):c.1418T>C (p.Met473Thr)	not specified [RCV004679487]	uncertain significance	1	24661331	24661331	Human		name
407525971	CV3474820	single nucleotide variant	NM_005839.4(SRRM1):c.1310G>C (p.Gly437Ala)	not specified [RCV004679488]	uncertain significance	1	24655124	24655124	Human		name
407516723	CV3474821	single nucleotide variant	NM_005839.4(SRRM1):c.1991C>G (p.Ser664Cys)	not specified [RCV004675390]	uncertain significance	1	24669374	24669374	Human		name
407516726	CV3474822	single nucleotide variant	NM_005839.4(SRRM1):c.1070G>C (p.Gly357Ala)	not specified [RCV004675391]	uncertain significance	1	24654884	24654884	Human		name
407525977	CV3474826	single nucleotide variant	NM_016333.4(SRRM2):c.2821G>T (p.Val941Leu)	Inborn genetic diseases [RCV004679490]	likely benign	16	2763349	2763349	Human	1	name
407525991	CV3474834	single nucleotide variant	NM_016333.4(SRRM2):c.2171C>T (p.Ser724Phe)	Inborn genetic diseases [RCV004679494]	likely benign	16	2762699	2762699	Human	1	name
407516751	CV3474838	single nucleotide variant	NM_016333.4(SRRM2):c.2056C>A (p.Pro686Thr)	Inborn genetic diseases [RCV004675400]	uncertain significance	16	2762584	2762584	Human	1	name
407516766	CV3474843	single nucleotide variant	NM_016333.4(SRRM2):c.2115A>C (p.Arg705Ser)	Inborn genetic diseases [RCV004675405]	likely benign	16	2762643	2762643	Human	1	name
407516783	CV3474851	single nucleotide variant	NM_016333.4(SRRM2):c.2828C>T (p.Ser943Leu)	Inborn genetic diseases [RCV004675412]	uncertain significance	16	2763356	2763356	Human	1	name
407516800	CV3474860	single nucleotide variant	NM_016333.4(SRRM2):c.1024A>G (p.Lys342Glu)	Inborn genetic diseases [RCV004675419]	uncertain significance	16	2760491	2760491	Human	1	name
407516813	CV3474864	single nucleotide variant	NM_194286.4(SRRM4):c.1232G>A (p.Arg411Lys)	not specified [RCV004675423]	uncertain significance	12	119151172	119151172	Human		name
407526003	CV3474867	single nucleotide variant	NM_194286.4(SRRM4):c.1756A>T (p.Arg586Trp)	not specified [RCV004679499]	uncertain significance	12	119156718	119156718	Human		name
408394451	CV3518265	single nucleotide variant	NM_016333.4(SRRM2):c.1585C>T (p.Gln529Ter)	Intellectual developmental disorder, autosomal dominant 72 [RCV004759588]	likely pathogenic	16	2762113	2762113	Human	1	name
408390914	CV3521102	single nucleotide variant	NM_016333.4(SRRM2):c.2387G>C (p.Arg796Pro)	not provided [RCV004762924]	uncertain significance	16	2762915	2762915	Human		name
408389036	CV3522870	single nucleotide variant	NM_016333.4(SRRM2):c.1490C>G (p.Ser497Cys)	not provided [RCV004769251]	uncertain significance	16	2762018	2762018	Human		name
408385260	CV3526042	single nucleotide variant	NM_016333.4(SRRM2):c.1199C>T (p.Thr400Ile)	not specified [RCV004766953]	uncertain significance	16	2761727	2761727	Human		name
596930035	CV3531315	single nucleotide variant	NM_016333.4(SRRM2):c.2173G>A (p.Gly725Ser)	not provided [RCV004779889]	uncertain significance	16	2762701	2762701	Human		name
596920911	CV3534380	single nucleotide variant	NM_016333.4(SRRM2):c.1393G>A (p.Gly465Ser)	not specified [RCV004783599]	uncertain significance	16	2761921	2761921	Human		name
596925871	CV3535982	single nucleotide variant	NM_016333.4(SRRM2):c.2502T>G (p.Ser834Arg)	Neurodevelopmental disorder [RCV004788412]	uncertain significance	16	2763030	2763030	Human	1	name
596942060	CV3543960	single nucleotide variant	NM_016333.4(SRRM2):c.1383T>A (p.Asn461Lys)	not specified [RCV004799950]	uncertain significance	16	2761911	2761911	Human		name
597779300	CV3611549	single nucleotide variant	NM_001013694.3(SRRD):c.156G>C (p.Glu52Asp)	not specified [RCV004873503]	uncertain significance	22	26484046	26484046	Human		name
597779307	CV3611551	single nucleotide variant	NM_001013694.3(SRRD):c.154G>A (p.Glu52Lys)	not specified [RCV004873505]	uncertain significance	22	26484044	26484044	Human		name
597779320	CV3611555	single nucleotide variant	NM_005839.4(SRRM1):c.2252G>A (p.Arg751Gln)	not specified [RCV004873508]	uncertain significance	1	24670167	24670167	Human		name
597680971	CV3611556	single nucleotide variant	NM_005839.4(SRRM1):c.2354C>T (p.Pro785Leu)	not specified [RCV004857477]	uncertain significance	1	24670269	24670269	Human		name
597779324	CV3611557	single nucleotide variant	NM_005839.4(SRRM1):c.2021G>C (p.Arg674Pro)	not specified [RCV004873509]	uncertain significance	1	24669404	24669404	Human		name
597680981	CV3611558	single nucleotide variant	NM_005839.4(SRRM1):c.1766G>A (p.Arg589His)	not specified [RCV004857478]	uncertain significance	1	24669149	24669149	Human		name
597779328	CV3611559	single nucleotide variant	NM_005839.4(SRRM1):c.1561C>T (p.Arg521Trp)	not specified [RCV004873510]	uncertain significance	1	24662737	24662737	Human		name
597680999	CV3611563	single nucleotide variant	NM_005839.4(SRRM1):c.2392C>T (p.Pro798Ser)	not specified [RCV004857480]	uncertain significance	1	24670307	24670307	Human		name
597681008	CV3611564	single nucleotide variant	NM_005839.4(SRRM1):c.1882T>C (p.Ser628Pro)	not specified [RCV004857481]	uncertain significance	1	24669265	24669265	Human		name
597779343	CV3611567	single nucleotide variant	NM_005839.4(SRRM1):c.2350G>C (p.Val784Leu)	not specified [RCV004873514]	uncertain significance	1	24670265	24670265	Human		name
597779347	CV3611568	single nucleotide variant	NM_005839.4(SRRM1):c.1621T>C (p.Ser541Pro)	not specified [RCV004873515]	uncertain significance	1	24662797	24662797	Human		name
597779351	CV3611569	single nucleotide variant	NM_005839.4(SRRM1):c.2375C>G (p.Pro792Arg)	not specified [RCV004873516]	uncertain significance	1	24670290	24670290	Human		name
597779355	CV3611570	single nucleotide variant	NM_005839.4(SRRM1):c.1982G>A (p.Arg661Lys)	not specified [RCV004873517]	uncertain significance	1	24669365	24669365	Human		name
597632712	CV3611571	single nucleotide variant	NM_016333.4(SRRM2):c.2315G>A (p.Arg772His)	Inborn genetic diseases [RCV004968912]	likely benign	16	2762843	2762843	Human	1	name
597632715	CV3611572	single nucleotide variant	NM_016333.4(SRRM2):c.2803T>A (p.Ser935Thr)	Inborn genetic diseases [RCV004968913]	uncertain significance	16	2763331	2763331	Human	1	name
597632739	CV3611580	single nucleotide variant	NM_016333.4(SRRM2):c.2158A>G (p.Arg720Gly)	Inborn genetic diseases [RCV004968921]	uncertain significance	16	2762686	2762686	Human	1	name
597632742	CV3611581	single nucleotide variant	NM_016333.4(SRRM2):c.2777G>A (p.Arg926Lys)	Inborn genetic diseases [RCV004968922]	uncertain significance	16	2763305	2763305	Human	1	name
597632829	CV3611586	single nucleotide variant	NM_016333.4(SRRM2):c.2804C>T (p.Ser935Phe)	Inborn genetic diseases [RCV004968927]	likely benign	16	2763332	2763332	Human	1	name
597632838	CV3611588	single nucleotide variant	NM_016333.4(SRRM2):c.1823C>T (p.Thr608Ile)	Inborn genetic diseases [RCV004968929]	uncertain significance	16	2762351	2762351	Human	1	name
597632865	CV3611596	single nucleotide variant	NM_016333.4(SRRM2):c.1907G>A (p.Arg636His)	Inborn genetic diseases [RCV004968937]	likely benign	16	2762435	2762435	Human	1	name
597632881	CV3611601	single nucleotide variant	NM_016333.4(SRRM2):c.2075C>T (p.Ser692Phe)	Inborn genetic diseases [RCV004968942]\|not specified [RCV005241052]	uncertain significance	16	2762603	2762603	Human	1	name
597632884	CV3611602	single nucleotide variant	NM_016333.4(SRRM2):c.2188C>T (p.Arg730Trp)	Inborn genetic diseases [RCV004968943]	likely benign	16	2762716	2762716	Human	1	name
597632897	CV3611607	single nucleotide variant	NM_016333.4(SRRM2):c.1228G>A (p.Glu410Lys)	Inborn genetic diseases [RCV004968947]	uncertain significance	16	2761756	2761756	Human	1	name
597632901	CV3611608	single nucleotide variant	NM_016333.4(SRRM2):c.2710C>T (p.Pro904Ser)	Inborn genetic diseases [RCV004968948]	likely benign	16	2763238	2763238	Human	1	name
597632906	CV3611610	single nucleotide variant	NM_016333.4(SRRM2):c.1876A>G (p.Arg626Gly)	Inborn genetic diseases [RCV004968950]	uncertain significance	16	2762404	2762404	Human	1	name
597632914	CV3611612	single nucleotide variant	NM_016333.4(SRRM2):c.2462C>T (p.Pro821Leu)	Inborn genetic diseases [RCV004968952]	likely benign	16	2762990	2762990	Human	1	name
597632917	CV3611613	single nucleotide variant	NM_016333.4(SRRM2):c.1598G>A (p.Arg533His)	Inborn genetic diseases [RCV004968953]	likely benign	16	2762126	2762126	Human	1	name
597633014	CV3611642	single nucleotide variant	NM_016333.4(SRRM2):c.1124G>A (p.Gly375Asp)	Inborn genetic diseases [RCV004968982]	uncertain significance	16	2761652	2761652	Human	1	name
597633032	CV3611647	single nucleotide variant	NM_016333.4(SRRM2):c.1619C>A (p.Pro540Gln)	Inborn genetic diseases [RCV004968987]	uncertain significance	16	2762147	2762147	Human	1	name
597633037	CV3611648	single nucleotide variant	NM_016333.4(SRRM2):c.2264C>T (p.Ser755Phe)	Inborn genetic diseases [RCV004968988]	uncertain significance	16	2762792	2762792	Human	1	name
597681038	CV3611662	single nucleotide variant	NM_194286.4(SRRM4):c.1408T>C (p.Tyr470His)	not specified [RCV004857485]	uncertain significance	12	119154259	119154259	Human		name
597779389	CV3611663	single nucleotide variant	NM_194286.4(SRRM4):c.1805C>T (p.Ser602Leu)	not specified [RCV004873526]	uncertain significance	12	119156767	119156767	Human		name
597655816	CV3731517	single nucleotide variant	NM_016333.4(SRRM2):c.1636A>G (p.Arg546Gly)	not provided [RCV005001698]	uncertain significance	16	2762164	2762164	Human		name
597834039	CV3735741	single nucleotide variant	NM_016333.4(SRRM2):c.1685C>T (p.Ser562Phe)	not provided [RCV005063604]	uncertain significance	16	2762213	2762213	Human		name
597832851	CV3762156	single nucleotide variant	NM_016333.4(SRRM2):c.2138C>T (p.Ser713Phe)	Intellectual developmental disorder, autosomal dominant 72 [RCV005087574]	uncertain significance	16	2762666	2762666	Human	1	name
597861729	CV3880909	single nucleotide variant	NM_016333.4(SRRM2):c.1534C>T (p.Gln512Ter)	Intellectual developmental disorder, autosomal dominant 72 [RCV005229737]	likely pathogenic	16	2762062	2762062	Human	1	name
598126958	CV3887971	single nucleotide variant	NM_016333.4(SRRM2):c.2486C>T (p.Thr829Ile)	not provided [RCV005242657]	uncertain significance	16	2763014	2763014	Human		name
598127937	CV3888385	single nucleotide variant	NM_016333.4(SRRM2):c.2519C>G (p.Pro840Arg)	not provided [RCV005243071]	likely benign	16	2763047	2763047	Human		name
598173302	CV3912331	single nucleotide variant	NM_005839.4(SRRM1):c.1412G>A (p.Gly471Asp)	not specified [RCV005285156]	uncertain significance	1	24661325	24661325	Human		name
598173322	CV3912334	single nucleotide variant	NM_005839.4(SRRM1):c.1763G>A (p.Arg588Gln)	not specified [RCV005285159]	uncertain significance	1	24669146	24669146	Human		name
598173328	CV3912335	single nucleotide variant	NM_005839.4(SRRM1):c.2347G>A (p.Ala783Thr)	not specified [RCV005285160]	uncertain significance	1	24670262	24670262	Human		name
598173348	CV3912341	single nucleotide variant	NM_016333.4(SRRM2):c.1208G>A (p.Arg403His)	Inborn genetic diseases [RCV005285164]	likely benign	16	2761736	2761736	Human	1	name
598173381	CV3912350	single nucleotide variant	NM_016333.4(SRRM2):c.2818A>G (p.Arg940Gly)	Inborn genetic diseases [RCV005285171]	likely benign	16	2763346	2763346	Human	1	name
598173390	CV3912352	single nucleotide variant	NM_016333.4(SRRM2):c.1130C>T (p.Ser377Phe)	Inborn genetic diseases [RCV005285173]	uncertain significance	16	2761658	2761658	Human	1	name
598212936	CV3912353	single nucleotide variant	NM_016333.4(SRRM2):c.1126G>A (p.Gly376Ser)	Inborn genetic diseases [RCV005271034]	likely benign	16	2761654	2761654	Human	1	name
598173395	CV3912354	single nucleotide variant	NM_016333.4(SRRM2):c.1648A>G (p.Arg550Gly)	Inborn genetic diseases [RCV005285174]	uncertain significance	16	2762176	2762176	Human	1	name
598173421	CV3912359	single nucleotide variant	NM_016333.4(SRRM2):c.2144C>G (p.Ser715Cys)	Inborn genetic diseases [RCV005285179]	likely benign	16	2762672	2762672	Human	1	name
598173428	CV3912361	single nucleotide variant	NM_016333.4(SRRM2):c.1897C>T (p.Arg633Cys)	Inborn genetic diseases [RCV005285181]	uncertain significance	16	2762425	2762425	Human	1	name
598173436	CV3912363	single nucleotide variant	NM_016333.4(SRRM2):c.1139C>G (p.Pro380Arg)	Inborn genetic diseases [RCV005285183]	uncertain significance	16	2761667	2761667	Human	1	name
598173450	CV3912366	single nucleotide variant	NM_016333.4(SRRM2):c.1703C>T (p.Ala568Val)	Inborn genetic diseases [RCV005285186]	uncertain significance	16	2762231	2762231	Human	1	name
598173461	CV3912369	single nucleotide variant	NM_016333.4(SRRM2):c.2834C>A (p.Thr945Lys)	Inborn genetic diseases [RCV005285189]	uncertain significance	16	2763362	2763362	Human	1	name
598173490	CV3912376	single nucleotide variant	NM_016333.4(SRRM2):c.2966A>G (p.His989Arg)	Inborn genetic diseases [RCV005285196]	uncertain significance	16	2763494	2763494	Human	1	name
598173502	CV3912379	single nucleotide variant	NM_016333.4(SRRM2):c.2767A>G (p.Ile923Val)	Inborn genetic diseases [RCV005285199]	uncertain significance	16	2763295	2763295	Human	1	name
598212940	CV3912382	single nucleotide variant	NM_016333.4(SRRM2):c.1046G>A (p.Arg349Gln)	Inborn genetic diseases [RCV005271035]	uncertain significance	16	2761574	2761574	Human	1	name
598173561	CV3912394	single nucleotide variant	NM_016333.4(SRRM2):c.2441G>T (p.Arg814Leu)	Inborn genetic diseases [RCV005285212]	uncertain significance	16	2762969	2762969	Human	1	name
598173572	CV3912398	single nucleotide variant	NM_016333.4(SRRM2):c.2159G>C (p.Arg720Thr)	Inborn genetic diseases [RCV005285215]	uncertain significance	16	2762687	2762687	Human	1	name
598173585	CV3912402	single nucleotide variant	NM_016333.4(SRRM2):c.1451C>T (p.Ser484Phe)	Inborn genetic diseases [RCV005285218]	uncertain significance	16	2761979	2761979	Human	1	name
598173612	CV3912408	single nucleotide variant	NM_016333.4(SRRM2):c.2075C>G (p.Ser692Cys)	Inborn genetic diseases [RCV005285224]	uncertain significance	16	2762603	2762603	Human	1	name
598173643	CV3912416	single nucleotide variant	NM_194286.4(SRRM4):c.1235C>T (p.Ala412Val)	not specified [RCV005285230]	uncertain significance	12	119151175	119151175	Human		name
598173658	CV3912419	single nucleotide variant	NM_194286.4(SRRM4):c.1303T>C (p.Tyr435His)	not specified [RCV005285232]	uncertain significance	12	119153561	119153561	Human		name
598173664	CV3912420	single nucleotide variant	NM_194286.4(SRRM4):c.1313A>C (p.Lys438Thr)	not specified [RCV005285233]	uncertain significance	12	119153571	119153571	Human		name
598173676	CV3912422	single nucleotide variant	NM_194286.4(SRRM4):c.1773C>A (p.Ser591Arg)	not specified [RCV005285235]	uncertain significance	12	119156735	119156735	Human		name
598212974	CV3912424	single nucleotide variant	NM_194286.4(SRRM4):c.1196G>C (p.Arg399Pro)	not specified [RCV005271042]	uncertain significance	12	119151136	119151136	Human		name
598173687	CV3912425	single nucleotide variant	NM_194286.4(SRRM4):c.1744C>T (p.Arg582Trp)	not specified [RCV005285237]	uncertain significance	12	119156706	119156706	Human		name
598173706	CV3912428	single nucleotide variant	NM_194286.4(SRRM4):c.1618A>G (p.Ser540Gly)	not specified [RCV005285240]	uncertain significance	12	119156580	119156580	Human		name
617149905	CV4017266	single nucleotide variant	NM_016333.4(SRRM2):c.1958C>T (p.Ala653Val)	not provided [RCV005416923]	uncertain significance	16	2762486	2762486	Human		name
617153297	CV4018603	single nucleotide variant	NM_016333.4(SRRM2):c.1589G>A (p.Arg530Gln)	not specified [RCV005418865]	uncertain significance	16	2762117	2762117	Human		name
617149306	CV4021483	single nucleotide variant	NM_016333.4(SRRM2):c.2656C>T (p.Pro886Ser)	not provided [RCV005425452]	likely benign	16	2763184	2763184	Human		name
617151092	CV4021877	single nucleotide variant	NM_016333.4(SRRM2):c.1669G>C (p.Ala557Pro)	not provided [RCV005426838]	likely benign	16	2762197	2762197	Human		name
15167033	CV703590	single nucleotide variant	NM_016333.4(SRRM2):c.2567C>G (p.Thr856Arg)	not provided [RCV000948968]	benign	16	2763095	2763095	Human		name
15160776	CV714827	single nucleotide variant	NM_016333.4(SRRM2):c.1001C>T (p.Pro334Leu)	not provided [RCV000969968]	benign	16	2760468	2760468	Human		name
15135623	CV714828	single nucleotide variant	NM_016333.4(SRRM2):c.1304G>C (p.Ser435Thr)	not provided [RCV000965318]	benign	16	2761832	2761832	Human		name
15111176	CV726525	single nucleotide variant	NM_016333.4(SRRM2):c.2648C>G (p.Ser883Cys)	not provided [RCV000894219]	benign	16	2763176	2763176	Human		name
8634526	CV89746	single nucleotide variant	NM_194286.3(SRRM4):c.1520G>A (p.Arg507Gln)	Malignant melanoma [RCV000069843]	not provided	12	119154371	119154371	Human		name
40889594	CV972678	single nucleotide variant	NM_016333.4(SRRM2):c.1310C>T (p.Ser437Phe)	Neurodevelopmental abnormality [RCV001264646]	likely benign	16	2761838	2761838	Human	2	name
156231396	CV2093828	single nucleotide variant	NM_016333.4(SRRM2):c.3040T>G (p.Ser1014Ala)	not provided [RCV002894565]	uncertain significance	16	2763568	2763568	Human		name
156079720	CV2173734	single nucleotide variant	NM_016333.4(SRRM2):c.6181A>G (p.Thr2061Ala)	not provided [RCV003053984]	uncertain significance	16	2766709	2766709	Human		name
156137656	CV2196275	single nucleotide variant	NM_016333.4(SRRM2):c.5935C>T (p.Arg1979Cys)	Inborn genetic diseases [RCV002641080]	uncertain significance	16	2766463	2766463	Human	1	name
156148169	CV2197010	single nucleotide variant	NM_016333.4(SRRM2):c.4171G>A (p.Val1391Met)	Inborn genetic diseases [RCV002641703]	uncertain significance	16	2764699	2764699	Human	1	name
156320315	CV2197270	single nucleotide variant	NM_016333.4(SRRM2):c.7967C>T (p.Pro2656Leu)	Inborn genetic diseases [RCV002649123]	uncertain significance	16	2769230	2769230	Human	1	name
156180375	CV2201732	single nucleotide variant	NM_001013694.3(SRRD):c.342C>G (p.Asp114Glu)	not specified [RCV004082177]	uncertain significance	22	26488120	26488120	Human		name
156275209	CV2202720	single nucleotide variant	NM_016333.4(SRRM2):c.5794C>T (p.Arg1932Cys)	Inborn genetic diseases [RCV002669799]	uncertain significance	16	2766322	2766322	Human	1	name
156175193	CV2205225	single nucleotide variant	NM_016333.4(SRRM2):c.6076A>G (p.Ile2026Val)	Inborn genetic diseases [RCV002664967]	uncertain significance	16	2766604	2766604	Human	1	name
156278855	CV2210085	single nucleotide variant	NM_016333.4(SRRM2):c.5062C>T (p.Arg1688Cys)	Inborn genetic diseases [RCV002670023]	uncertain significance	16	2765590	2765590	Human	1	name
156333208	CV2214561	single nucleotide variant	NM_016333.4(SRRM2):c.4190C>T (p.Ser1397Phe)	Inborn genetic diseases [RCV002673567]	uncertain significance	16	2764718	2764718	Human	1	name
156381378	CV2214915	single nucleotide variant	NM_001013694.3(SRRD):c.726G>A (p.Met242Ile)	not specified [RCV004084704]	uncertain significance	22	26490160	26490160	Human		name
156092842	CV2216867	single nucleotide variant	NM_016333.4(SRRM2):c.3796A>G (p.Ser1266Gly)	Inborn genetic diseases [RCV002661462]	uncertain significance	16	2764324	2764324	Human	1	name
156123959	CV2227300	single nucleotide variant	NM_016333.4(SRRM2):c.7783C>T (p.Pro2595Ser)	Inborn genetic diseases [RCV002708026]	uncertain significance	16	2769046	2769046	Human	1	name
156284646	CV2231272	single nucleotide variant	NM_001013694.3(SRRD):c.397G>A (p.Val133Ile)	not specified [RCV004094463]	uncertain significance	22	26488175	26488175	Human		name
155950374	CV2242895	single nucleotide variant	NM_016333.4(SRRM2):c.4761C>A (p.Ser1587Arg)	Inborn genetic diseases [RCV002752982]	uncertain significance	16	2765289	2765289	Human	1	name
156096835	CV2253144	single nucleotide variant	NM_016333.4(SRRM2):c.6902G>A (p.Arg2301Lys)	Inborn genetic diseases [RCV002798868]	uncertain significance	16	2767430	2767430	Human	1	name
156219551	CV2254064	single nucleotide variant	NM_001110199.3(SRRM3):c.116T>C (p.Leu39Pro)	not specified [RCV004129512]	uncertain significance	7	76235182	76235182	Human		name
156311114	CV2260130	single nucleotide variant	NM_016333.4(SRRM2):c.4862C>T (p.Ser1621Phe)	Inborn genetic diseases [RCV002809010]	uncertain significance	16	2765390	2765390	Human	1	name
156153867	CV2266032	single nucleotide variant	NM_001145641.2(SRRM5):c.155C>G (p.Ser52Cys)	not specified [RCV004126851]	uncertain significance	19	43612276	43612276	Human		name
156368573	CV2267036	single nucleotide variant	NM_016333.4(SRRM2):c.3181T>C (p.Ser1061Pro)	Inborn genetic diseases [RCV002813935]	uncertain significance	16	2763709	2763709	Human	1	name
156113955	CV2268463	single nucleotide variant	NM_016333.4(SRRM2):c.4457C>A (p.Pro1486Gln)	Inborn genetic diseases [RCV002799917]	uncertain significance	16	2764985	2764985	Human	1	name
156364406	CV2271916	single nucleotide variant	NM_016333.4(SRRM2):c.5167A>T (p.Arg1723Trp)	Inborn genetic diseases [RCV002813319]	uncertain significance	16	2765695	2765695	Human	1	name
155956213	CV2281897	single nucleotide variant	NM_016333.4(SRRM2):c.7199C>T (p.Pro2400Leu)	Inborn genetic diseases [RCV002840859]\|not provided [RCV003410178]	likely benign\|uncertain significance	16	2767727	2767727	Human	1	name
156245389	CV2283420	single nucleotide variant	NM_001013694.3(SRRD):c.733A>G (p.Ile245Val)	not specified [RCV004139645]	uncertain significance	22	26490167	26490167	Human		name
156124192	CV2285739	single nucleotide variant	NM_016333.4(SRRM2):c.5084C>T (p.Pro1695Leu)	Inborn genetic diseases [RCV002849266]	uncertain significance	16	2765612	2765612	Human	1	name
156263240	CV2287705	single nucleotide variant	NM_016333.4(SRRM2):c.4498C>G (p.Pro1500Ala)	Inborn genetic diseases [RCV002855554]	uncertain significance	16	2765026	2765026	Human	1	name
156281112	CV2288720	single nucleotide variant	NM_016333.4(SRRM2):c.4214C>T (p.Pro1405Leu)	Inborn genetic diseases [RCV002878203]	uncertain significance	16	2764742	2764742	Human	1	name
156146846	CV2289290	single nucleotide variant	NM_016333.4(SRRM2):c.5915G>A (p.Ser1972Asn)	Inborn genetic diseases [RCV002850650]	uncertain significance	16	2766443	2766443	Human	1	name
156182475	CV2298616	single nucleotide variant	NM_016333.4(SRRM2):c.6259C>G (p.Arg2087Gly)	Inborn genetic diseases [RCV002892056]	uncertain significance	16	2766787	2766787	Human	1	name
156203170	CV2300704	single nucleotide variant	NM_016333.4(SRRM2):c.5912G>A (p.Arg1971Gln)	Inborn genetic diseases [RCV002874966]\|not provided [RCV004572824]	uncertain significance	16	2766440	2766440	Human	1	name
155908759	CV2307141	single nucleotide variant	NM_016333.4(SRRM2):c.8026C>A (p.Arg2676Ser)	Inborn genetic diseases [RCV002902232]	uncertain significance	16	2770356	2770356	Human	1	name
156097322	CV2310259	single nucleotide variant	NM_016333.4(SRRM2):c.7127C>G (p.Ser2376Cys)	Inborn genetic diseases [RCV002888408]	uncertain significance	16	2767655	2767655	Human	1	name
156246128	CV2310512	single nucleotide variant	NM_016333.4(SRRM2):c.6634C>G (p.Pro2212Ala)	Inborn genetic diseases [RCV002919631]	uncertain significance	16	2767162	2767162	Human	1	name
156146210	CV2311072	single nucleotide variant	NM_016333.4(SRRM2):c.7904C>A (p.Ser2635Tyr)	Inborn genetic diseases [RCV002915104]	uncertain significance	16	2769167	2769167	Human	1	name
156198727	CV2312942	single nucleotide variant	NM_016333.4(SRRM2):c.7780C>T (p.Arg2594Cys)	Inborn genetic diseases [RCV002892996]	uncertain significance	16	2769043	2769043	Human	1	name
156276769	CV2316559	single nucleotide variant	NM_016333.4(SRRM2):c.6020G>T (p.Arg2007Leu)	Inborn genetic diseases [RCV002934689]	uncertain significance	16	2766548	2766548	Human	1	name
156195253	CV2322331	single nucleotide variant	NM_016333.4(SRRM2):c.4073C>A (p.Pro1358Gln)	Inborn genetic diseases [RCV002931238]	uncertain significance	16	2764601	2764601	Human	1	name
156334637	CV2333414	single nucleotide variant	NM_016333.4(SRRM2):c.5150G>A (p.Arg1717His)	Inborn genetic diseases [RCV002964583]	uncertain significance	16	2765678	2765678	Human	1	name
156274031	CV2334076	single nucleotide variant	NM_016333.4(SRRM2):c.6775T>A (p.Ser2259Thr)	Inborn genetic diseases [RCV002960525]	likely benign	16	2767303	2767303	Human	1	name
156227307	CV2352824	single nucleotide variant	NM_016333.4(SRRM2):c.6044G>A (p.Arg2015His)	Inborn genetic diseases [RCV002986532]	uncertain significance	16	2766572	2766572	Human	1	name
156182578	CV2353166	single nucleotide variant	NM_016333.4(SRRM2):c.3139G>A (p.Glu1047Lys)	Inborn genetic diseases [RCV002984128]	uncertain significance	16	2763667	2763667	Human	1	name
155991610	CV2355492	single nucleotide variant	NM_001013694.3(SRRD):c.878C>T (p.Thr293Ile)	not specified [RCV004205342]	uncertain significance	22	26491530	26491530	Human		name
156016685	CV2360498	single nucleotide variant	NM_016333.4(SRRM2):c.4484C>T (p.Pro1495Leu)	Inborn genetic diseases [RCV002998332]	uncertain significance	16	2765012	2765012	Human	1	name
156336891	CV2360834	single nucleotide variant	NM_016333.4(SRRM2):c.3518A>G (p.Gln1173Arg)	Inborn genetic diseases [RCV002673982]	uncertain significance	16	2764046	2764046	Human	1	name
156383921	CV2361746	single nucleotide variant	NM_016333.4(SRRM2):c.4043C>T (p.Ser1348Phe)	Inborn genetic diseases [RCV002679292]\|not provided [RCV004809960]	likely benign\|uncertain significance	16	2764571	2764571	Human	1	name
156385869	CV2364589	single nucleotide variant	NM_001145641.2(SRRM5):c.230G>A (p.Arg77Gln)	not specified [RCV004219484]	likely benign	19	43612351	43612351	Human		name
156211362	CV2370339	single nucleotide variant	NM_016333.4(SRRM2):c.8017C>T (p.Arg2673Trp)	Inborn genetic diseases [RCV003006814]	uncertain significance	16	2769280	2769280	Human	1	name
156387234	CV2372683	single nucleotide variant	NM_001145641.2(SRRM5):c.289G>A (p.Asp97Asn)	not specified [RCV004221880]	uncertain significance	19	43612410	43612410	Human		name
155998128	CV2373253	single nucleotide variant	NM_016333.4(SRRM2):c.7039A>G (p.Thr2347Ala)	Inborn genetic diseases [RCV002689808]	uncertain significance	16	2767567	2767567	Human	1	name
156076147	CV2375013	single nucleotide variant	NM_016333.4(SRRM2):c.6329A>G (p.Asn2110Ser)	Inborn genetic diseases [RCV002694248]	uncertain significance	16	2766857	2766857	Human	1	name
156075716	CV2377077	single nucleotide variant	NM_016333.4(SRRM2):c.5438G>A (p.Arg1813Gln)	Inborn genetic diseases [RCV002694223]	uncertain significance	16	2765966	2765966	Human	1	name
156092847	CV2381969	single nucleotide variant	NM_016333.4(SRRM2):c.5302C>T (p.Arg1768Cys)	Inborn genetic diseases [RCV002738598]	uncertain significance	16	2765830	2765830	Human	1	name
156210052	CV2382709	single nucleotide variant	NM_016333.4(SRRM2):c.6797C>T (p.Ala2266Val)	Inborn genetic diseases [RCV002744011]	uncertain significance	16	2767325	2767325	Human	1	name
156390962	CV2384977	single nucleotide variant	NM_016333.4(SRRM2):c.8200C>T (p.Arg2734Cys)	Inborn genetic diseases [RCV002724731]	uncertain significance	16	2770668	2770668	Human	1	name
156213807	CV2385873	single nucleotide variant	NM_016333.4(SRRM2):c.4796G>A (p.Gly1599Asp)	Inborn genetic diseases [RCV002744251]	uncertain significance	16	2765324	2765324	Human	1	name
156266933	CV2389238	single nucleotide variant	NM_016333.4(SRRM2):c.7138C>G (p.Leu2380Val)	Inborn genetic diseases [RCV002769797]	uncertain significance	16	2767666	2767666	Human	1	name
156189560	CV2390871	single nucleotide variant	NM_016333.4(SRRM2):c.6049C>T (p.Arg2017Cys)	Inborn genetic diseases [RCV002789087]	uncertain significance	16	2766577	2766577	Human	1	name
156000238	CV2396554	single nucleotide variant	NM_016333.4(SRRM2):c.7934C>T (p.Ser2645Leu)	Inborn genetic diseases [RCV002779326]	uncertain significance	16	2769197	2769197	Human	1	name
156255298	CV2397632	single nucleotide variant	NM_016333.4(SRRM2):c.5413C>T (p.Arg1805Trp)	Inborn genetic diseases [RCV002769116]	uncertain significance	16	2765941	2765941	Human	1	name
155996531	CV2398551	single nucleotide variant	NM_016333.4(SRRM2):c.3110C>G (p.Ala1037Gly)	Inborn genetic diseases [RCV002779008]	uncertain significance	16	2763638	2763638	Human	1	name
156094480	CV2398836	single nucleotide variant	NM_001013694.3(SRRD):c.747C>G (p.Phe249Leu)	not specified [RCV004245159]	uncertain significance	22	26490181	26490181	Human		name
156197254	CV2400722	single nucleotide variant	NM_016333.4(SRRM2):c.4442A>G (p.Asp1481Gly)	Inborn genetic diseases [RCV002789542]	uncertain significance	16	2764970	2764970	Human	1	name
156004897	CV2401033	single nucleotide variant	NM_016333.4(SRRM2):c.4115A>G (p.Lys1372Arg)	Inborn genetic diseases [RCV002779712]\|not provided [RCV003561180]	conflicting interpretations of pathogenicity\|uncertain significance	16	2764643	2764643	Human	1	name
243054083	CV2418413	single nucleotide variant	NM_016333.4(SRRM2):c.6427A>G (p.Arg2143Gly)	not provided [RCV003154439]	uncertain significance	16	2766955	2766955	Human		name
243051248	CV2419764	single nucleotide variant	NM_016333.4(SRRM2):c.3523G>C (p.Asp1175His)	not provided [RCV003156696]	uncertain significance	16	2764051	2764051	Human		name
329386275	CV2428237	single nucleotide variant	NM_016333.4(SRRM2):c.3673C>G (p.Gln1225Glu)	Inborn genetic diseases [RCV003189575]	uncertain significance	16	2764201	2764201	Human	1	name
329356611	CV2430832	single nucleotide variant	NM_016333.4(SRRM2):c.3292C>T (p.Arg1098Trp)	Inborn genetic diseases [RCV003178295]	uncertain significance	16	2763820	2763820	Human	1	name
329373457	CV2434258	single nucleotide variant	NM_016333.4(SRRM2):c.5282G>C (p.Arg1761Pro)	Inborn genetic diseases [RCV003173121]	uncertain significance	16	2765810	2765810	Human	1	name
329377051	CV2435791	single nucleotide variant	NM_016333.4(SRRM2):c.3100T>C (p.Ser1034Pro)	Inborn genetic diseases [RCV003174374]\|not provided [RCV005256905]	likely benign\|uncertain significance	16	2763628	2763628	Human	1	name
329361124	CV2436690	single nucleotide variant	NM_016333.4(SRRM2):c.7202T>G (p.Leu2401Arg)	Inborn genetic diseases [RCV003180242]	uncertain significance	16	2767730	2767730	Human	1	name
329392456	CV2438966	single nucleotide variant	NM_016333.4(SRRM2):c.7232C>T (p.Pro2411Leu)	Inborn genetic diseases [RCV003192675]	uncertain significance	16	2767760	2767760	Human	1	name
329361013	CV2439939	single nucleotide variant	NM_016333.4(SRRM2):c.4492C>T (p.Arg1498Cys)	Inborn genetic diseases [RCV003180186]	uncertain significance	16	2765020	2765020	Human	1	name
329381102	CV2440647	single nucleotide variant	NM_016333.4(SRRM2):c.5087A>G (p.Glu1696Gly)	Inborn genetic diseases [RCV003175605]	uncertain significance	16	2765615	2765615	Human	1	name
329366591	CV2441730	single nucleotide variant	NM_016333.4(SRRM2):c.5122C>T (p.Arg1708Cys)	Inborn genetic diseases [RCV003207834]	uncertain significance	16	2765650	2765650	Human	1	name
329360276	CV2446652	single nucleotide variant	NM_016333.4(SRRM2):c.6046C>T (p.Arg2016Cys)	Inborn genetic diseases [RCV003179813]	uncertain significance	16	2766574	2766574	Human	1	name
329373800	CV2447414	single nucleotide variant	NM_016333.4(SRRM2):c.7403C>T (p.Pro2468Leu)	Inborn genetic diseases [RCV003185243]	uncertain significance	16	2767931	2767931	Human	1	name
329393304	CV2449641	single nucleotide variant	NM_016333.4(SRRM2):c.5657G>A (p.Arg1886His)	Inborn genetic diseases [RCV003193103]	uncertain significance	16	2766185	2766185	Human	1	name
329368912	CV2450460	single nucleotide variant	NM_016333.4(SRRM2):c.4434C>A (p.Ser1478Arg)	Inborn genetic diseases [RCV003208853]	uncertain significance	16	2764962	2764962	Human	1	name
329372924	CV2451729	single nucleotide variant	NM_016333.4(SRRM2):c.4403A>T (p.Asp1468Val)	Inborn genetic diseases [RCV003210272]	uncertain significance	16	2764931	2764931	Human	1	name
329391605	CV2452970	single nucleotide variant	NM_016333.4(SRRM2):c.5140C>G (p.Pro1714Ala)	Inborn genetic diseases [RCV003217358]	uncertain significance	16	2765668	2765668	Human	1	name
329385601	CV2462086	single nucleotide variant	NM_016333.4(SRRM2):c.6508A>G (p.Thr2170Ala)	Inborn genetic diseases [RCV003214485]	uncertain significance	16	2767036	2767036	Human	1	name
329359963	CV2462196	single nucleotide variant	NM_016333.4(SRRM2):c.7060G>A (p.Gly2354Ser)	Inborn genetic diseases [RCV003204625]	likely benign	16	2767588	2767588	Human	1	name
329395686	CV2462932	single nucleotide variant	NM_016333.4(SRRM2):c.7501G>A (p.Val2501Met)	Inborn genetic diseases [RCV003219247]	uncertain significance	16	2768029	2768029	Human	1	name
329398057	CV2466589	single nucleotide variant	NM_016333.4(SRRM2):c.5960C>G (p.Ser1987Cys)	Inborn genetic diseases [RCV003195875]	uncertain significance	16	2766488	2766488	Human	1	name
329353338	CV2469174	single nucleotide variant	NM_016333.4(SRRM2):c.8119C>G (p.Pro2707Ala)	Inborn genetic diseases [RCV003201185]	uncertain significance	16	2770449	2770449	Human	1	name
329399352	CV2470057	single nucleotide variant	NM_016333.4(SRRM2):c.4189T>G (p.Ser1397Ala)	Inborn genetic diseases [RCV003220885]	uncertain significance	16	2764717	2764717	Human	1	name
329352089	CV2476622	single nucleotide variant	NM_016333.4(SRRM2):c.7771C>T (p.Arg2591Ter)	not provided [RCV003222854]	likely pathogenic	16	2769034	2769034	Human		name
329350996	CV2477826	single nucleotide variant	NM_016333.4(SRRM2):c.6908C>G (p.Pro2303Arg)	not provided [RCV003223939]	uncertain significance	16	2767436	2767436	Human		name
329848581	CV2523325	single nucleotide variant	NM_016333.4(SRRM2):c.5840G>C (p.Arg1947Pro)	not provided [RCV003225339]	uncertain significance	16	2766368	2766368	Human		name
329847777	CV2524527	single nucleotide variant	NM_016333.4(SRRM2):c.7093A>C (p.Ser2365Arg)	not provided [RCV003227419]	uncertain significance	16	2767621	2767621	Human		name
329953344	CV2668317	single nucleotide variant	NM_016333.4(SRRM2):c.4558G>C (p.Glu1520Gln)	not provided [RCV003229970]	uncertain significance	16	2765086	2765086	Human		name
329954456	CV2669141	single nucleotide variant	NM_016333.4(SRRM2):c.4256G>C (p.Ser1419Thr)	not provided [RCV003232974]	uncertain significance	16	2764784	2764784	Human		name
329953917	CV2669259	single nucleotide variant	NM_016333.4(SRRM2):c.6928A>C (p.Ser2310Arg)	not provided [RCV003231765]	uncertain significance	16	2767456	2767456	Human		name
329953968	CV2669310	single nucleotide variant	NM_016333.4(SRRM2):c.4798T>G (p.Ser1600Ala)	not provided [RCV003231817]	uncertain significance	16	2765326	2765326	Human		name
329954076	CV2669402	single nucleotide variant	NM_016333.4(SRRM2):c.3593C>T (p.Ser1198Phe)	not provided [RCV003231910]	uncertain significance	16	2764121	2764121	Human		name
329953028	CV2669737	single nucleotide variant	NM_016333.4(SRRM2):c.5782C>T (p.Pro1928Ser)	not provided [RCV003234361]	uncertain significance	16	2766310	2766310	Human		name
329953100	CV2669811	single nucleotide variant	NM_016333.4(SRRM2):c.4793C>T (p.Ser1598Phe)	not provided [RCV003234435]	uncertain significance	16	2765321	2765321	Human		name
329954880	CV2670812	single nucleotide variant	NM_016333.4(SRRM2):c.7946C>T (p.Pro2649Leu)	not provided [RCV003236080]	uncertain significance	16	2769209	2769209	Human		name
329952443	CV2671774	single nucleotide variant	NM_016333.4(SRRM2):c.6950C>T (p.Pro2317Leu)	not provided [RCV003237171]	uncertain significance	16	2767478	2767478	Human		name
401725070	CV2672359	single nucleotide variant	NM_016333.4(SRRM2):c.4663G>A (p.Glu1555Lys)	not provided [RCV003239260]	uncertain significance	16	2765191	2765191	Human		name
401735734	CV2672728	single nucleotide variant	NM_016333.4(SRRM2):c.6584C>T (p.Pro2195Leu)	Inborn genetic diseases [RCV003239417]	uncertain significance	16	2767112	2767112	Human	1	name
401723685	CV2675042	single nucleotide variant	NM_016333.4(SRRM2):c.3626C>T (p.Pro1209Leu)	Inborn genetic diseases [RCV003245248]	uncertain significance	16	2764154	2764154	Human	1	name
401741824	CV2676534	single nucleotide variant	NM_016333.4(SRRM2):c.8182C>T (p.Arg2728Cys)	Inborn genetic diseases [RCV003251543]	uncertain significance	16	2770650	2770650	Human	1	name
401767157	CV2681471	single nucleotide variant	NM_016333.4(SRRM2):c.4534C>T (p.Pro1512Ser)	Inborn genetic diseases [RCV003259721]	uncertain significance	16	2765062	2765062	Human	1	name
401736526	CV2683043	single nucleotide variant	NM_001013694.3(SRRD):c.607G>A (p.Glu203Lys)	not specified [RCV004283820]	uncertain significance	22	26488486	26488486	Human		name
401729386	CV2683663	single nucleotide variant	NM_016333.4(SRRM2):c.5435G>A (p.Arg1812Gln)	Inborn genetic diseases [RCV003247791]	uncertain significance	16	2765963	2765963	Human	1	name
401723770	CV2684861	single nucleotide variant	NM_001013694.3(SRRD):c.803T>C (p.Ile268Thr)	not specified [RCV004296367]	uncertain significance	22	26491063	26491063	Human		name
401734069	CV2688394	single nucleotide variant	NM_016333.4(SRRM2):c.5522G>A (p.Arg1841His)	Inborn genetic diseases [RCV003290661]	uncertain significance	16	2766050	2766050	Human	1	name
401776494	CV2689160	single nucleotide variant	NM_016333.4(SRRM2):c.3073C>G (p.Leu1025Val)	Inborn genetic diseases [RCV003286449]	uncertain significance	16	2763601	2763601	Human	1	name
401736761	CV2689422	single nucleotide variant	NM_016333.4(SRRM2):c.3325G>A (p.Ala1109Thr)	Inborn genetic diseases [RCV003291391]	uncertain significance	16	2763853	2763853	Human	1	name
401748698	CV2694481	single nucleotide variant	NM_016333.4(SRRM2):c.5083C>G (p.Pro1695Ala)	Inborn genetic diseases [RCV003253156]	uncertain significance	16	2765611	2765611	Human	1	name
401737429	CV2695800	single nucleotide variant	NM_016333.4(SRRM2):c.5149C>T (p.Arg1717Cys)	Inborn genetic diseases [RCV003250278]	uncertain significance	16	2765677	2765677	Human	1	name
401759626	CV2701640	single nucleotide variant	NM_016333.4(SRRM2):c.6169C>T (p.Arg2057Cys)	Inborn genetic diseases [RCV003256934]	uncertain significance	16	2766697	2766697	Human	1	name
401758143	CV2704196	single nucleotide variant	NM_016333.4(SRRM2):c.4585G>T (p.Ala1529Ser)	Inborn genetic diseases [RCV003256291]	uncertain significance	16	2765113	2765113	Human	1	name
401778051	CV2704572	single nucleotide variant	NM_016333.4(SRRM2):c.3164T>C (p.Leu1055Pro)	Inborn genetic diseases [RCV003286937]	uncertain significance	16	2763692	2763692	Human	1	name
401778695	CV2705512	single nucleotide variant	NM_016333.4(SRRM2):c.6340A>G (p.Met2114Val)	Inborn genetic diseases [RCV003287187]	uncertain significance	16	2766868	2766868	Human	1	name
401748709	CV2713319	single nucleotide variant	NM_001013694.3(SRRD):c.305G>A (p.Gly102Glu)	not specified [RCV004316832]	uncertain significance	22	26488083	26488083	Human		name
401775050	CV2713757	single nucleotide variant	NM_016333.4(SRRM2):c.6353G>A (p.Ser2118Asn)	Inborn genetic diseases [RCV003262766]	uncertain significance	16	2766881	2766881	Human	1	name
401778440	CV2714727	single nucleotide variant	NM_001013694.3(SRRD):c.298C>T (p.Pro100Ser)	not specified [RCV004320299]	uncertain significance	22	26488076	26488076	Human		name
401777519	CV2718233	single nucleotide variant	NM_016333.4(SRRM2):c.3736G>A (p.Glu1246Lys)	Inborn genetic diseases [RCV003263572]	uncertain significance	16	2764264	2764264	Human	1	name
401779319	CV2718491	single nucleotide variant	NM_016333.4(SRRM2):c.3905C>A (p.Ala1302Asp)	Inborn genetic diseases [RCV003287524]	uncertain significance	16	2764433	2764433	Human	1	name
401750071	CV2719502	single nucleotide variant	NM_016333.4(SRRM2):c.3092G>T (p.Gly1031Val)	Inborn genetic diseases [RCV003295070]	uncertain significance	16	2763620	2763620	Human	1	name
401739519	CV2722160	single nucleotide variant	NM_016333.4(SRRM2):c.7133C>T (p.Ala2378Val)	Inborn genetic diseases [RCV003273971]	uncertain significance	16	2767661	2767661	Human	1	name
401783521	CV2723665	single nucleotide variant	NM_016333.4(SRRM2):c.5057C>T (p.Pro1686Leu)	Inborn genetic diseases [RCV003309662]	uncertain significance	16	2765585	2765585	Human	1	name
401763741	CV2725279	single nucleotide variant	NM_001110199.3(SRRM3):c.101G>T (p.Arg34Leu)	not specified [RCV004319945]	uncertain significance	7	76235167	76235167	Human		name
401728652	CV2729716	single nucleotide variant	NM_001013694.3(SRRD):c.796C>A (p.Pro266Thr)	not specified [RCV004331971]	uncertain significance	22	26491056	26491056	Human		name
401731761	CV2736621	single nucleotide variant	NM_016333.4(SRRM2):c.4285G>A (p.Asp1429Asn)	not provided [RCV003313383]	uncertain significance	16	2764813	2764813	Human		name
401798351	CV2739328	single nucleotide variant	NM_016333.4(SRRM2):c.6209G>T (p.Arg2070Ile)	not provided [RCV003318976]	uncertain significance	16	2766737	2766737	Human		name
401796976	CV2739869	single nucleotide variant	NM_016333.4(SRRM2):c.7058C>T (p.Ala2353Val)	not provided [RCV003319830]	uncertain significance	16	2767586	2767586	Human		name
401799220	CV2741798	single nucleotide variant	NM_016333.4(SRRM2):c.7582A>G (p.Lys2528Glu)	not provided [RCV003323206]	uncertain significance	16	2768110	2768110	Human		name
401830791	CV2748316	single nucleotide variant	NM_016333.4(SRRM2):c.7393C>G (p.Gln2465Glu)	not provided [RCV003329925]	uncertain significance	16	2767921	2767921	Human		name
401872474	CV2749654	single nucleotide variant	NM_016333.4(SRRM2):c.7979C>A (p.Pro2660His)	not provided [RCV003332782]	uncertain significance	16	2769242	2769242	Human		name
401855799	CV2757461	single nucleotide variant	NM_016333.4(SRRM2):c.6149T>C (p.Ile2050Thr)	Inborn genetic diseases [RCV003339988]	uncertain significance	16	2766677	2766677	Human	1	name
401856017	CV2764267	single nucleotide variant	NM_016333.4(SRRM2):c.5396G>A (p.Arg1799Gln)	Inborn genetic diseases [RCV003340163]	uncertain significance	16	2765924	2765924	Human	1	name
401879171	CV2764880	single nucleotide variant	NM_016333.4(SRRM2):c.4195A>T (p.Asn1399Tyr)	Inborn genetic diseases [RCV003349289]	uncertain significance	16	2764723	2764723	Human	1	name
401860019	CV2765438	single nucleotide variant	NM_001110199.3(SRRM3):c.1734C>T (p.Ser578=)	not provided [RCV004707827]\|not specified [RCV004341756]	likely benign	7	76285615	76285615	Human		name
401889664	CV2766801	single nucleotide variant	NM_001110199.3(SRRM3):c.239C>T (p.Ser80Leu)	not specified [RCV004349187]	uncertain significance	7	76248193	76248193	Human		name
401885427	CV2768156	single nucleotide variant	NM_016333.4(SRRM2):c.4201A>C (p.Ser1401Arg)	Inborn genetic diseases [RCV003366537]	uncertain significance	16	2764729	2764729	Human	1	name
401863874	CV2770881	single nucleotide variant	NM_016333.4(SRRM2):c.4877C>T (p.Ala1626Val)	Inborn genetic diseases [RCV003359165]	uncertain significance	16	2765405	2765405	Human	1	name
401879637	CV2772834	single nucleotide variant	NM_016333.4(SRRM2):c.3967A>G (p.Arg1323Gly)	Inborn genetic diseases [RCV003364231]	uncertain significance	16	2764495	2764495	Human	1	name
401860668	CV2776131	single nucleotide variant	NM_016333.4(SRRM2):c.6841G>T (p.Ala2281Ser)	Inborn genetic diseases [RCV003357493]	uncertain significance	16	2767369	2767369	Human	1	name
401871803	CV2779403	single nucleotide variant	NM_016333.4(SRRM2):c.7901C>T (p.Ser2634Phe)	Inborn genetic diseases [RCV003361600]	uncertain significance	16	2769164	2769164	Human	1	name
401864310	CV2781657	single nucleotide variant	NM_016333.4(SRRM2):c.5300C>T (p.Pro1767Leu)	Inborn genetic diseases [RCV003378992]	uncertain significance	16	2765828	2765828	Human	1	name
401875096	CV2791080	single nucleotide variant	NM_016333.4(SRRM2):c.7205T>G (p.Leu2402Arg)	Inborn genetic diseases [RCV003362556]	uncertain significance	16	2767733	2767733	Human	1	name
401898901	CV2792101	single nucleotide variant	NM_016333.4(SRRM2):c.8228C>T (p.Pro2743Leu)	Inborn genetic diseases [RCV003377060]	uncertain significance	16	2770696	2770696	Human	1	name
401907811	CV2795579	single nucleotide variant	NM_016333.4(SRRM2):c.7735G>T (p.Val2579Phe)	Intellectual developmental disorder, autosomal dominant 72 [RCV003389623]	uncertain significance	16	2768998	2768998	Human	1	name
401934346	CV2810954	single nucleotide variant	NM_016333.4(SRRM2):c.4046C>A (p.Ser1349Tyr)	not provided [RCV003411235]	likely benign	16	2764574	2764574	Human		name
401911421	CV2810955	single nucleotide variant	NM_016333.4(SRRM2):c.4411A>G (p.Arg1471Gly)	Inborn genetic diseases [RCV004963651]\|not provided [RCV003426536]	benign\|likely benign	16	2764939	2764939	Human	1	name
401911422	CV2810956	single nucleotide variant	NM_016333.4(SRRM2):c.4727G>A (p.Arg1576Lys)	not provided [RCV003426537]	likely benign	16	2765255	2765255	Human		name
401911424	CV2810957	single nucleotide variant	NM_016333.4(SRRM2):c.4978G>C (p.Glu1660Gln)	not provided [RCV003426538]	uncertain significance	16	2765506	2765506	Human		name
401938472	CV2810958	single nucleotide variant	NM_016333.4(SRRM2):c.5639C>G (p.Thr1880Ser)	not provided [RCV003417593]	uncertain significance	16	2766167	2766167	Human		name
401911425	CV2810961	single nucleotide variant	NM_016333.4(SRRM2):c.6955A>C (p.Thr2319Pro)	not provided [RCV003426539]	likely benign	16	2767483	2767483	Human		name
401922540	CV2825812	single nucleotide variant	NM_001110199.3(SRRM3):c.1002G>T (p.Pro334=)	not provided [RCV003433907]	likely benign	7	76267429	76267429	Human		name
401943660	CV2840129	single nucleotide variant	NM_016333.4(SRRM2):c.3752A>G (p.Gln1251Arg)	not provided [RCV003456913]	likely benign	16	2764280	2764280	Human		name
401964339	CV2843643	single nucleotide variant	NM_016333.4(SRRM2):c.7240C>T (p.Pro2414Ser)	not specified [RCV003479986]	uncertain significance	16	2767768	2767768	Human		name
402507097	CV2944403	single nucleotide variant	NM_016333.4(SRRM2):c.3979T>C (p.Phe1327Leu)	not provided [RCV003662173]	uncertain significance	16	2764507	2764507	Human		name
405244538	CV3050655	single nucleotide variant	NM_016333.4(SRRM2):c.3311C>T (p.Pro1104Leu)	not provided [RCV003720013]	uncertain significance	16	2763839	2763839	Human		name
405265372	CV3185601	single nucleotide variant	NM_016333.4(SRRM2):c.5267C>T (p.Thr1756Ile)	not provided [RCV003886165]	likely benign	16	2765795	2765795	Human		name
405702447	CV3326808	single nucleotide variant	NM_016333.4(SRRM2):c.5458T>C (p.Tyr1820His)	Inborn genetic diseases [RCV004460590]	uncertain significance	16	2765986	2765986	Human	1	name
405702453	CV3326809	single nucleotide variant	NM_016333.4(SRRM2):c.5476G>T (p.Ala1826Ser)	Inborn genetic diseases [RCV004460591]	uncertain significance	16	2766004	2766004	Human	1	name
405702464	CV3326810	single nucleotide variant	NM_016333.4(SRRM2):c.5479C>T (p.Arg1827Trp)	Inborn genetic diseases [RCV004460592]	uncertain significance	16	2766007	2766007	Human	1	name
405702475	CV3326812	single nucleotide variant	NM_016333.4(SRRM2):c.5797C>G (p.Arg1933Gly)	Inborn genetic diseases [RCV004460594]	uncertain significance	16	2766325	2766325	Human	1	name
405702484	CV3326813	single nucleotide variant	NM_016333.4(SRRM2):c.5798G>A (p.Arg1933His)	Inborn genetic diseases [RCV004460595]	uncertain significance	16	2766326	2766326	Human	1	name
405702491	CV3326814	single nucleotide variant	NM_016333.4(SRRM2):c.5821A>G (p.Thr1941Ala)	Inborn genetic diseases [RCV004460596]	uncertain significance	16	2766349	2766349	Human	1	name
405702498	CV3326815	single nucleotide variant	NM_016333.4(SRRM2):c.5834G>A (p.Arg1945His)	Inborn genetic diseases [RCV004460597]	uncertain significance	16	2766362	2766362	Human	1	name
405702513	CV3326817	single nucleotide variant	NM_016333.4(SRRM2):c.6020G>A (p.Arg2007His)	Inborn genetic diseases [RCV004460599]\|not provided [RCV005256973]	likely benign\|uncertain significance	16	2766548	2766548	Human	1	name
405702520	CV3326818	single nucleotide variant	NM_016333.4(SRRM2):c.6026G>A (p.Arg2009Gln)	Inborn genetic diseases [RCV004460600]	uncertain significance	16	2766554	2766554	Human	1	name
405702526	CV3326819	single nucleotide variant	NM_016333.4(SRRM2):c.6112C>A (p.Pro2038Thr)	Inborn genetic diseases [RCV004460601]	uncertain significance	16	2766640	2766640	Human	1	name
405702529	CV3326820	single nucleotide variant	NM_016333.4(SRRM2):c.6142C>G (p.Leu2048Val)	Inborn genetic diseases [RCV004460602]	uncertain significance	16	2766670	2766670	Human	1	name
405702537	CV3326821	single nucleotide variant	NM_016333.4(SRRM2):c.6281C>T (p.Pro2094Leu)	Inborn genetic diseases [RCV004460603]	uncertain significance	16	2766809	2766809	Human	1	name
405702557	CV3326824	single nucleotide variant	NM_016333.4(SRRM2):c.7000G>A (p.Ala2334Thr)	Inborn genetic diseases [RCV004460606]	uncertain significance	16	2767528	2767528	Human	1	name
405702564	CV3326825	single nucleotide variant	NM_016333.4(SRRM2):c.7011C>G (p.Asn2337Lys)	Inborn genetic diseases [RCV004460607]	uncertain significance	16	2767539	2767539	Human	1	name
405702571	CV3326826	single nucleotide variant	NM_016333.4(SRRM2):c.7218G>T (p.Arg2406Ser)	Inborn genetic diseases [RCV004460608]	uncertain significance	16	2767746	2767746	Human	1	name
405702576	CV3326827	single nucleotide variant	NM_016333.4(SRRM2):c.7265A>G (p.Glu2422Gly)	Inborn genetic diseases [RCV004460609]	uncertain significance	16	2767793	2767793	Human	1	name
405702583	CV3326828	single nucleotide variant	NM_016333.4(SRRM2):c.7331A>G (p.Gln2444Arg)	Inborn genetic diseases [RCV004460610]	uncertain significance	16	2767859	2767859	Human	1	name
405702590	CV3326829	single nucleotide variant	NM_016333.4(SRRM2):c.7379G>A (p.Arg2460His)	Inborn genetic diseases [RCV004460611]	likely benign	16	2767907	2767907	Human	1	name
405702604	CV3326831	single nucleotide variant	NM_016333.4(SRRM2):c.7445C>T (p.Thr2482Met)	Inborn genetic diseases [RCV004460613]	uncertain significance	16	2767973	2767973	Human	1	name
405702610	CV3326832	single nucleotide variant	NM_016333.4(SRRM2):c.7495C>G (p.Pro2499Ala)	Inborn genetic diseases [RCV004460614]	uncertain significance	16	2768023	2768023	Human	1	name
405702618	CV3326833	single nucleotide variant	NM_016333.4(SRRM2):c.7505C>T (p.Pro2502Leu)	Inborn genetic diseases [RCV004460615]	uncertain significance	16	2768033	2768033	Human	1	name
405702625	CV3326834	single nucleotide variant	NM_016333.4(SRRM2):c.7706C>T (p.Pro2569Leu)	Inborn genetic diseases [RCV004460616]	likely benign	16	2768234	2768234	Human	1	name
405702638	CV3326836	single nucleotide variant	NM_016333.4(SRRM2):c.7841C>G (p.Ser2614Cys)	Inborn genetic diseases [RCV004460618]	likely benign	16	2769104	2769104	Human	1	name
405702643	CV3326837	single nucleotide variant	NM_016333.4(SRRM2):c.7886C>G (p.Ser2629Cys)	Inborn genetic diseases [RCV004460619]	uncertain significance	16	2769149	2769149	Human	1	name
405702656	CV3326839	single nucleotide variant	NM_016333.4(SRRM2):c.8036G>A (p.Arg2679Gln)	Inborn genetic diseases [RCV004460621]	uncertain significance	16	2770366	2770366	Human	1	name
405702664	CV3326840	single nucleotide variant	NM_016333.4(SRRM2):c.8039A>G (p.Lys2680Arg)	Inborn genetic diseases [RCV004460622]	uncertain significance	16	2770369	2770369	Human	1	name
405702678	CV3326842	single nucleotide variant	NM_016333.4(SRRM2):c.8158C>T (p.Arg2720Trp)	Inborn genetic diseases [RCV004460624]	likely benign	16	2770626	2770626	Human	1	name
405702730	CV3326850	single nucleotide variant	NM_001110199.3(SRRM3):c.176G>A (p.Arg59His)	not specified [RCV004460632]	uncertain significance	7	76235242	76235242	Human		name
405702933	CV3326878	single nucleotide variant	NM_001145641.2(SRRM5):c.133G>C (p.Val45Leu)	not specified [RCV004460660]	uncertain significance	19	43612254	43612254	Human		name
405702978	CV3326884	single nucleotide variant	NM_001145641.2(SRRM5):c.203C>T (p.Thr68Ile)	not specified [RCV004460666]	uncertain significance	19	43612324	43612324	Human		name
405701926	CV3330675	single nucleotide variant	NM_001013694.3(SRRD):c.365T>C (p.Val122Ala)	not specified [RCV004460515]	uncertain significance	22	26488143	26488143	Human		name
405701932	CV3330676	single nucleotide variant	NM_001013694.3(SRRD):c.500A>G (p.Glu167Gly)	not specified [RCV004460516]	uncertain significance	22	26488278	26488278	Human		name
405702204	CV3330713	single nucleotide variant	NM_016333.4(SRRM2):c.3017G>C (p.Gly1006Ala)	Inborn genetic diseases [RCV004460553]	uncertain significance	16	2763545	2763545	Human	1	name
405702209	CV3330714	single nucleotide variant	NM_016333.4(SRRM2):c.3143G>A (p.Ser1048Asn)	Inborn genetic diseases [RCV004460554]	uncertain significance	16	2763671	2763671	Human	1	name
405702214	CV3330715	single nucleotide variant	NM_016333.4(SRRM2):c.3203G>C (p.Arg1068Thr)	Inborn genetic diseases [RCV004460555]	uncertain significance	16	2763731	2763731	Human	1	name
405702221	CV3330716	single nucleotide variant	NM_016333.4(SRRM2):c.3268T>C (p.Ser1090Pro)	Inborn genetic diseases [RCV004460556]	likely benign	16	2763796	2763796	Human	1	name
405702225	CV3330717	single nucleotide variant	NM_016333.4(SRRM2):c.3386C>T (p.Ser1129Phe)	Inborn genetic diseases [RCV004460557]	uncertain significance	16	2763914	2763914	Human	1	name
405702238	CV3330719	single nucleotide variant	NM_016333.4(SRRM2):c.3761C>T (p.Ser1254Phe)	Inborn genetic diseases [RCV004460559]	uncertain significance	16	2764289	2764289	Human	1	name
405702247	CV3330720	single nucleotide variant	NM_016333.4(SRRM2):c.3874T>G (p.Ser1292Ala)	Inborn genetic diseases [RCV004460560]\|not provided [RCV005256972]	likely benign\|uncertain significance	16	2764402	2764402	Human	1	name
405702253	CV3330721	single nucleotide variant	NM_016333.4(SRRM2):c.3883G>C (p.Ala1295Pro)	Inborn genetic diseases [RCV004460561]	uncertain significance	16	2764411	2764411	Human	1	name
405702258	CV3330722	single nucleotide variant	NM_016333.4(SRRM2):c.3988C>T (p.Pro1330Ser)	Inborn genetic diseases [RCV004460562]	likely benign	16	2764516	2764516	Human	1	name
405702266	CV3330723	single nucleotide variant	NM_016333.4(SRRM2):c.4147A>C (p.Ser1383Arg)	Inborn genetic diseases [RCV004460563]	uncertain significance	16	2764675	2764675	Human	1	name
405702278	CV3330725	single nucleotide variant	NM_016333.4(SRRM2):c.4180G>T (p.Ala1394Ser)	Inborn genetic diseases [RCV004460565]	uncertain significance	16	2764708	2764708	Human	1	name
405702288	CV3330726	single nucleotide variant	NM_016333.4(SRRM2):c.4183G>A (p.Gly1395Arg)	Inborn genetic diseases [RCV004460566]	uncertain significance	16	2764711	2764711	Human	1	name
405702295	CV3330727	single nucleotide variant	NM_016333.4(SRRM2):c.4444T>C (p.Ser1482Pro)	Inborn genetic diseases [RCV004460567]	uncertain significance	16	2764972	2764972	Human	1	name
405702301	CV3330728	single nucleotide variant	NM_016333.4(SRRM2):c.4582G>A (p.Val1528Met)	Inborn genetic diseases [RCV004460568]	uncertain significance	16	2765110	2765110	Human	1	name
405702307	CV3330729	single nucleotide variant	NM_016333.4(SRRM2):c.4589G>A (p.Arg1530Gln)	Inborn genetic diseases [RCV004460569]	uncertain significance	16	2765117	2765117	Human	1	name
405702312	CV3330730	single nucleotide variant	NM_016333.4(SRRM2):c.4661A>T (p.Gln1554Leu)	Inborn genetic diseases [RCV004460570]	likely benign	16	2765189	2765189	Human	1	name
405702321	CV3330731	single nucleotide variant	NM_016333.4(SRRM2):c.4678G>A (p.Asp1560Asn)	Inborn genetic diseases [RCV004460571]	uncertain significance	16	2765206	2765206	Human	1	name
405702334	CV3330733	single nucleotide variant	NM_016333.4(SRRM2):c.4694C>G (p.Ser1565Cys)	Inborn genetic diseases [RCV004460573]	uncertain significance	16	2765222	2765222	Human	1	name
405702341	CV3330734	single nucleotide variant	NM_016333.4(SRRM2):c.4804C>T (p.Pro1602Ser)	Inborn genetic diseases [RCV004460574]	uncertain significance	16	2765332	2765332	Human	1	name
405702350	CV3330735	single nucleotide variant	NM_016333.4(SRRM2):c.4825A>G (p.Arg1609Gly)	Inborn genetic diseases [RCV004460575]	uncertain significance	16	2765353	2765353	Human	1	name
405702363	CV3330737	single nucleotide variant	NM_016333.4(SRRM2):c.4950A>T (p.Glu1650Asp)	Inborn genetic diseases [RCV004460577]	uncertain significance	16	2765478	2765478	Human	1	name
405702370	CV3330738	single nucleotide variant	NM_016333.4(SRRM2):c.5002G>A (p.Ala1668Thr)	Inborn genetic diseases [RCV004460578]	uncertain significance	16	2765530	2765530	Human	1	name
405702377	CV3330739	single nucleotide variant	NM_016333.4(SRRM2):c.5048G>A (p.Arg1683His)	Inborn genetic diseases [RCV004460579]	uncertain significance	16	2765576	2765576	Human	1	name
405702383	CV3330740	single nucleotide variant	NM_016333.4(SRRM2):c.5060G>A (p.Arg1687Gln)	Inborn genetic diseases [RCV004460580]	uncertain significance	16	2765588	2765588	Human	1	name
405702399	CV3330743	single nucleotide variant	NM_016333.4(SRRM2):c.5108T>C (p.Leu1703Pro)	Inborn genetic diseases [RCV004460583]	uncertain significance	16	2765636	2765636	Human	1	name
405702405	CV3330744	single nucleotide variant	NM_016333.4(SRRM2):c.5114G>A (p.Arg1705His)	Inborn genetic diseases [RCV004460584]	uncertain significance	16	2765642	2765642	Human	1	name
405702412	CV3330745	single nucleotide variant	NM_016333.4(SRRM2):c.5129C>T (p.Ala1710Val)	Inborn genetic diseases [RCV004460585]	uncertain significance	16	2765657	2765657	Human	1	name
405702418	CV3330746	single nucleotide variant	NM_016333.4(SRRM2):c.5231G>A (p.Arg1744Gln)	Inborn genetic diseases [RCV004460586]	uncertain significance	16	2765759	2765759	Human	1	name
405702424	CV3330747	single nucleotide variant	NM_016333.4(SRRM2):c.5257A>G (p.Thr1753Ala)	Inborn genetic diseases [RCV004460587]	likely benign	16	2765785	2765785	Human	1	name
405702432	CV3330748	single nucleotide variant	NM_016333.4(SRRM2):c.5291C>T (p.Ser1764Leu)	Inborn genetic diseases [RCV004460588]	uncertain significance	16	2765819	2765819	Human	1	name
405702437	CV3330749	single nucleotide variant	NM_016333.4(SRRM2):c.5423C>T (p.Ser1808Leu)	Inborn genetic diseases [RCV004460589]	uncertain significance	16	2765951	2765951	Human	1	name
405854743	CV3394858	single nucleotide variant	NM_016333.4(SRRM2):c.6319G>T (p.Val2107Leu)	not provided [RCV004554999]	uncertain significance	16	2766847	2766847	Human		name
405873082	CV3398388	single nucleotide variant	NM_016333.4(SRRM2):c.4892C>G (p.Ala1631Gly)	not provided [RCV004575884]	uncertain significance	16	2765420	2765420	Human		name
407426236	CV3409776	single nucleotide variant	NM_016333.4(SRRM2):c.3439A>T (p.Thr1147Ser)	not provided [RCV004585708]	uncertain significance	16	2763967	2763967	Human		name
407428116	CV3410072	single nucleotide variant	NM_016333.4(SRRM2):c.6143T>G (p.Leu2048Arg)	not specified [RCV004587680]	uncertain significance	16	2766671	2766671	Human		name
407428650	CV3410313	single nucleotide variant	NM_016333.4(SRRM2):c.5498C>T (p.Thr1833Ile)	not specified [RCV004587920]	uncertain significance	16	2766026	2766026	Human		name
407428135	CV3412354	single nucleotide variant	NM_016333.4(SRRM2):c.5204C>G (p.Pro1735Arg)	not provided [RCV004593522]	uncertain significance	16	2765732	2765732	Human		name
407487448	CV3474812	single nucleotide variant	NM_001013694.3(SRRD):c.925G>A (p.Asp309Asn)	not specified [RCV004675385]	uncertain significance	22	26491577	26491577	Human		name
407516713	CV3474814	single nucleotide variant	NM_001013694.3(SRRD):c.454T>G (p.Cys152Gly)	not specified [RCV004675387]	uncertain significance	22	26488232	26488232	Human		name
407525974	CV3474823	single nucleotide variant	NM_016333.4(SRRM2):c.7930T>A (p.Ser2644Thr)	Inborn genetic diseases [RCV004679489]	likely benign	16	2769193	2769193	Human	1	name
407516730	CV3474824	single nucleotide variant	NM_016333.4(SRRM2):c.5621G>A (p.Arg1874Gln)	Inborn genetic diseases [RCV004675392]	uncertain significance	16	2766149	2766149	Human	1	name
407516732	CV3474825	single nucleotide variant	NM_016333.4(SRRM2):c.6086G>A (p.Arg2029His)	Inborn genetic diseases [RCV004675393]	uncertain significance	16	2766614	2766614	Human	1	name
407516735	CV3474827	single nucleotide variant	NM_016333.4(SRRM2):c.8005C>T (p.Pro2669Ser)	Inborn genetic diseases [RCV004675394]	likely benign	16	2769268	2769268	Human	1	name
407516740	CV3474829	single nucleotide variant	NM_016333.4(SRRM2):c.5326C>T (p.Arg1776Cys)	Inborn genetic diseases [RCV004675396]	likely benign	16	2765854	2765854	Human	1	name
407525980	CV3474830	single nucleotide variant	NM_016333.4(SRRM2):c.4613G>A (p.Arg1538His)	Inborn genetic diseases [RCV004679491]	likely benign	16	2765141	2765141	Human	1	name
407525983	CV3474831	single nucleotide variant	NM_016333.4(SRRM2):c.3557A>C (p.Lys1186Thr)	Inborn genetic diseases [RCV004679492]	uncertain significance	16	2764085	2764085	Human	1	name
407516743	CV3474832	single nucleotide variant	NM_016333.4(SRRM2):c.3376A>G (p.Met1126Val)	Inborn genetic diseases [RCV004675397]	likely benign	16	2763904	2763904	Human	1	name
407516745	CV3474835	single nucleotide variant	NM_016333.4(SRRM2):c.6155G>A (p.Arg2052His)	Inborn genetic diseases [RCV004675398]	likely benign	16	2766683	2766683	Human	1	name
407516748	CV3474836	single nucleotide variant	NM_016333.4(SRRM2):c.5068A>C (p.Ser1690Arg)	Inborn genetic diseases [RCV004675399]	uncertain significance	16	2765596	2765596	Human	1	name
407525993	CV3474837	single nucleotide variant	NM_016333.4(SRRM2):c.4607G>A (p.Arg1536Lys)	Inborn genetic diseases [RCV004679495]	uncertain significance	16	2765135	2765135	Human	1	name
407516755	CV3474839	single nucleotide variant	NM_016333.4(SRRM2):c.7817G>A (p.Arg2606His)	Inborn genetic diseases [RCV004675401]	uncertain significance	16	2769080	2769080	Human	1	name
407516757	CV3474840	single nucleotide variant	NM_016333.4(SRRM2):c.3250C>T (p.Pro1084Ser)	Inborn genetic diseases [RCV004675402]	likely benign	16	2763778	2763778	Human	1	name
407516760	CV3474841	single nucleotide variant	NM_016333.4(SRRM2):c.5282G>A (p.Arg1761His)	Inborn genetic diseases [RCV004675403]	uncertain significance	16	2765810	2765810	Human	1	name
407516763	CV3474842	single nucleotide variant	NM_016333.4(SRRM2):c.6043C>T (p.Arg2015Cys)	Inborn genetic diseases [RCV004675404]	uncertain significance	16	2766571	2766571	Human	1	name
407516768	CV3474844	single nucleotide variant	NM_016333.4(SRRM2):c.6437T>C (p.Met2146Thr)	Inborn genetic diseases [RCV004675406]	uncertain significance	16	2766965	2766965	Human	1	name
407516773	CV3474846	single nucleotide variant	NM_016333.4(SRRM2):c.3770C>G (p.Ser1257Cys)	Inborn genetic diseases [RCV004675408]	uncertain significance	16	2764298	2764298	Human	1	name
407516775	CV3474847	single nucleotide variant	NM_016333.4(SRRM2):c.5975G>C (p.Arg1992Thr)	Inborn genetic diseases [RCV004675409]	uncertain significance	16	2766503	2766503	Human	1	name
407525996	CV3474848	single nucleotide variant	NM_016333.4(SRRM2):c.7468C>A (p.His2490Asn)	Inborn genetic diseases [RCV004679496]	uncertain significance	16	2767996	2767996	Human	1	name
407516779	CV3474849	single nucleotide variant	NM_016333.4(SRRM2):c.3787A>C (p.Met1263Leu)	Inborn genetic diseases [RCV004675410]	uncertain significance	16	2764315	2764315	Human	1	name
407516782	CV3474850	single nucleotide variant	NM_016333.4(SRRM2):c.4493G>A (p.Arg1498His)	Inborn genetic diseases [RCV004675411]	likely benign	16	2765021	2765021	Human	1	name
407525998	CV3474852	single nucleotide variant	NM_016333.4(SRRM2):c.4331C>T (p.Ser1444Phe)	Inborn genetic diseases [RCV004679497]	likely benign	16	2764859	2764859	Human	1	name
407516786	CV3474853	single nucleotide variant	NM_016333.4(SRRM2):c.4484C>A (p.Pro1495Gln)	Inborn genetic diseases [RCV004675413]	uncertain significance	16	2765012	2765012	Human	1	name
407516789	CV3474854	single nucleotide variant	NM_016333.4(SRRM2):c.6385C>A (p.Arg2129Ser)	Inborn genetic diseases [RCV004675414]	uncertain significance	16	2766913	2766913	Human	1	name
407516790	CV3474855	single nucleotide variant	NM_016333.4(SRRM2):c.5545C>T (p.Arg1849Trp)	Inborn genetic diseases [RCV004675415]	uncertain significance	16	2766073	2766073	Human	1	name
407516793	CV3474856	single nucleotide variant	NM_016333.4(SRRM2):c.4491T>G (p.Ser1497Arg)	Inborn genetic diseases [RCV004675416]	uncertain significance	16	2765019	2765019	Human	1	name
407526000	CV3474857	single nucleotide variant	NM_016333.4(SRRM2):c.7288A>G (p.Arg2430Gly)	Inborn genetic diseases [RCV004679498]	uncertain significance	16	2767816	2767816	Human	1	name
407516796	CV3474858	single nucleotide variant	NM_016333.4(SRRM2):c.5957C>T (p.Thr1986Ile)	Inborn genetic diseases [RCV004675417]	uncertain significance	16	2766485	2766485	Human	1	name
407516798	CV3474859	single nucleotide variant	NM_016333.4(SRRM2):c.5350A>G (p.Thr1784Ala)	Inborn genetic diseases [RCV004675418]	uncertain significance	16	2765878	2765878	Human	1	name
407516806	CV3474862	single nucleotide variant	NM_001110199.3(SRRM3):c.146G>A (p.Arg49His)	not specified [RCV004675421]	uncertain significance	7	76235212	76235212	Human		name
407476552	CV3494926	single nucleotide variant	NM_016333.4(SRRM2):c.7774G>A (p.Glu2592Lys)	not specified [RCV004690827]	uncertain significance	16	2769037	2769037	Human		name
407574242	CV3498615	single nucleotide variant	NM_016333.4(SRRM2):c.4930G>A (p.Gly1644Ser)	not specified [RCV004703091]	uncertain significance	16	2765458	2765458	Human		name
407574319	CV3498668	single nucleotide variant	NM_016333.4(SRRM2):c.6931C>T (p.Leu2311Phe)	not specified [RCV004703144]	uncertain significance	16	2767459	2767459	Human		name
408381390	CV3501344	single nucleotide variant	NM_016333.4(SRRM2):c.6079C>G (p.Arg2027Gly)	not provided [RCV004727433]	uncertain significance	16	2766607	2766607	Human		name
408373373	CV3502237	single nucleotide variant	NM_016333.4(SRRM2):c.4791G>T (p.Arg1597Ser)	not provided [RCV004725824]	uncertain significance	16	2765319	2765319	Human		name
408375131	CV3502576	single nucleotide variant	NM_016333.4(SRRM2):c.4835C>G (p.Pro1612Arg)	not provided [RCV004726163]	uncertain significance	16	2765363	2765363	Human		name
408369836	CV3502872	single nucleotide variant	NM_016333.4(SRRM2):c.6918G>C (p.Leu2306Phe)	not provided [RCV004723993]	uncertain significance	16	2767446	2767446	Human		name
408370179	CV3503004	single nucleotide variant	NM_016333.4(SRRM2):c.8063C>G (p.Ser2688Cys)	not provided [RCV004724125]	uncertain significance	16	2770393	2770393	Human		name
408394611	CV3518342	single nucleotide variant	NM_016333.4(SRRM2):c.5653C>T (p.Arg1885Ter)	Intellectual developmental disorder, autosomal dominant 72 [RCV004759665]	pathogenic	16	2766181	2766181	Human	1	name
408389850	CV3519100	single nucleotide variant	NM_016333.4(SRRM2):c.7277C>T (p.Ser2426Phe)	not provided [RCV004762409]	uncertain significance	16	2767805	2767805	Human		name
408390647	CV3519460	single nucleotide variant	NM_016333.4(SRRM2):c.3006A>T (p.Gln1002His)	not provided [RCV004762769]	uncertain significance	16	2763534	2763534	Human		name
408393278	CV3519756	single nucleotide variant	NM_016333.4(SRRM2):c.5885C>T (p.Thr1962Ile)	not provided [RCV004764052]	uncertain significance	16	2766413	2766413	Human		name
408383979	CV3520011	single nucleotide variant	NM_016333.4(SRRM2):c.6908C>T (p.Pro2303Leu)	not provided [RCV004759832]	uncertain significance	16	2767436	2767436	Human		name
408391640	CV3521399	single nucleotide variant	NM_016333.4(SRRM2):c.5581T>G (p.Trp1861Gly)	not provided [RCV004763221]	uncertain significance	16	2766109	2766109	Human		name
408386555	CV3522579	single nucleotide variant	NM_016333.4(SRRM2):c.4871C>G (p.Pro1624Arg)	not provided [RCV004767939]	uncertain significance	16	2765399	2765399	Human		name
408389869	CV3524802	single nucleotide variant	NM_016333.4(SRRM2):c.4894C>A (p.Leu1632Ile)	not provided [RCV004769697]	uncertain significance	16	2765422	2765422	Human		name
408383980	CV3525882	single nucleotide variant	NM_016333.4(SRRM2):c.6839C>T (p.Ser2280Leu)	not specified [RCV004766792]	uncertain significance	16	2767367	2767367	Human		name
408387671	CV3527141	single nucleotide variant	NM_016333.4(SRRM2):c.8246C>T (p.Ser2749Phe)	not provided [RCV004773443]	uncertain significance	16	2770714	2770714	Human		name
408385651	CV3528613	single nucleotide variant	NM_016333.4(SRRM2):c.7742G>T (p.Ser2581Ile)	not provided [RCV004772446]	uncertain significance	16	2769005	2769005	Human		name
408385855	CV3528713	single nucleotide variant	NM_016333.4(SRRM2):c.3970G>A (p.Glu1324Lys)	not provided [RCV004772546]	uncertain significance	16	2764498	2764498	Human		name
408386414	CV3528914	single nucleotide variant	NM_016333.4(SRRM2):c.5534C>G (p.Pro1845Arg)	not provided [RCV004772747]	uncertain significance	16	2766062	2766062	Human		name
408388760	CV3529032	single nucleotide variant	NM_016333.4(SRRM2):c.5131T>A (p.Ser1711Thr)	not provided [RCV004773854]	uncertain significance	16	2765659	2765659	Human		name
408388787	CV3529100	single nucleotide variant	NM_016333.4(SRRM2):c.8086G>A (p.Val2696Met)	not provided [RCV004773922]	uncertain significance	16	2770416	2770416	Human		name
408388808	CV3529107	single nucleotide variant	NM_016333.4(SRRM2):c.4548A>C (p.Arg1516Ser)	not provided [RCV004773929]	uncertain significance	16	2765076	2765076	Human		name
408389236	CV3529284	single nucleotide variant	NM_016333.4(SRRM2):c.3350A>G (p.Asp1117Gly)	not provided [RCV004774106]	uncertain significance	16	2763878	2763878	Human		name
596931016	CV3529858	single nucleotide variant	NM_016333.4(SRRM2):c.7735G>A (p.Val2579Ile)	not provided [RCV004780908]	uncertain significance	16	2768998	2768998	Human		name
596931211	CV3531544	single nucleotide variant	NM_016333.4(SRRM2):c.8249G>T (p.Arg2750Met)	not provided [RCV004781106]	uncertain significance	16	2770717	2770717	Human		name
596924375	CV3532241	single nucleotide variant	NM_016333.4(SRRM2):c.7430C>G (p.Ser2477Cys)	not provided [RCV004777352]	uncertain significance	16	2767958	2767958	Human		name
596920558	CV3534031	single nucleotide variant	NM_016333.4(SRRM2):c.4883C>T (p.Ala1628Val)	not specified [RCV004783249]	uncertain significance	16	2765411	2765411	Human		name
596920365	CV3534548	single nucleotide variant	NM_016333.4(SRRM2):c.7025G>A (p.Arg2342Gln)	not specified [RCV004782109]	uncertain significance	16	2767553	2767553	Human		name
596921548	CV3535170	single nucleotide variant	NM_016333.4(SRRM2):c.5849C>G (p.Thr1950Ser)	not provided [RCV004784729]	uncertain significance	16	2766377	2766377	Human		name
596925868	CV3535981	single nucleotide variant	NM_016333.4(SRRM2):c.5840G>T (p.Arg1947Leu)	Neurodevelopmental disorder [RCV004788411]	uncertain significance	16	2766368	2766368	Human	1	name
596923011	CV3537511	single nucleotide variant	NM_016333.4(SRRM2):c.3455C>T (p.Ser1152Phe)	not provided [RCV004787481]	uncertain significance	16	2763983	2763983	Human		name
596929086	CV3540785	single nucleotide variant	NM_016333.4(SRRM2):c.4579A>G (p.Thr1527Ala)	not provided [RCV004795114]	uncertain significance	16	2765107	2765107	Human		name
596943800	CV3543032	single nucleotide variant	NM_016333.4(SRRM2):c.6499C>A (p.His2167Asn)	not provided [RCV004798617]	uncertain significance	16	2767027	2767027	Human		name
596942517	CV3544145	single nucleotide variant	NM_016333.4(SRRM2):c.7675A>G (p.Ser2559Gly)	not specified [RCV004800136]	uncertain significance	16	2768203	2768203	Human		name
596939998	CV3550747	single nucleotide variant	NM_016333.4(SRRM2):c.7892C>T (p.Ser2631Phe)	not provided [RCV004814647]	uncertain significance	16	2769155	2769155	Human		name
596940320	CV3550882	single nucleotide variant	NM_016333.4(SRRM2):c.7130G>A (p.Gly2377Asp)	not provided [RCV004814782]	uncertain significance	16	2767658	2767658	Human		name
597680954	CV3611547	single nucleotide variant	NM_001013694.3(SRRD):c.592G>A (p.Val198Ile)	not specified [RCV004857475]	uncertain significance	22	26488471	26488471	Human		name
597779297	CV3611548	single nucleotide variant	NM_001013694.3(SRRD):c.559G>A (p.Glu187Lys)	not specified [RCV004873502]	uncertain significance	22	26488438	26488438	Human		name
597779303	CV3611550	single nucleotide variant	NM_001013694.3(SRRD):c.454T>C (p.Cys152Arg)	not specified [RCV004873504]	uncertain significance	22	26488232	26488232	Human		name
597779311	CV3611552	single nucleotide variant	NM_001013694.3(SRRD):c.620G>A (p.Arg207Gln)	not specified [RCV004873506]	uncertain significance	22	26490054	26490054	Human		name
597779315	CV3611554	single nucleotide variant	NM_001013694.3(SRRD):c.859A>C (p.Met287Leu)	not specified [RCV004873507]	uncertain significance	22	26491511	26491511	Human		name
597632718	CV3611573	single nucleotide variant	NM_016333.4(SRRM2):c.3389G>T (p.Gly1130Val)	Inborn genetic diseases [RCV004968914]	uncertain significance	16	2763917	2763917	Human	1	name
597632721	CV3611574	single nucleotide variant	NM_016333.4(SRRM2):c.8026C>T (p.Arg2676Cys)	Inborn genetic diseases [RCV004968915]	likely benign	16	2770356	2770356	Human	1	name
597632723	CV3611575	single nucleotide variant	NM_016333.4(SRRM2):c.3853G>T (p.Asp1285Tyr)	Inborn genetic diseases [RCV004968916]	uncertain significance	16	2764381	2764381	Human	1	name
597632727	CV3611576	single nucleotide variant	NM_016333.4(SRRM2):c.4904G>A (p.Arg1635Gln)	Inborn genetic diseases [RCV004968917]	likely benign	16	2765432	2765432	Human	1	name
597632730	CV3611577	single nucleotide variant	NM_016333.4(SRRM2):c.5237G>A (p.Arg1746His)	Inborn genetic diseases [RCV004968918]	uncertain significance	16	2765765	2765765	Human	1	name
597632818	CV3611583	single nucleotide variant	NM_016333.4(SRRM2):c.4889G>A (p.Arg1630Gln)	Inborn genetic diseases [RCV004968924]	likely benign	16	2765417	2765417	Human	1	name
597632833	CV3611587	single nucleotide variant	NM_016333.4(SRRM2):c.3421G>C (p.Asp1141His)	Inborn genetic diseases [RCV004968928]	uncertain significance	16	2763949	2763949	Human	1	name
597632839	CV3611589	single nucleotide variant	NM_016333.4(SRRM2):c.6097C>T (p.Arg2033Ter)	Inborn genetic diseases [RCV004968930]	pathogenic	16	2766625	2766625	Human	1	name
597632844	CV3611590	single nucleotide variant	NM_016333.4(SRRM2):c.6245G>T (p.Gly2082Val)	Inborn genetic diseases [RCV004968931]	likely benign	16	2766773	2766773	Human	1	name
597632852	CV3611592	single nucleotide variant	NM_016333.4(SRRM2):c.5198C>T (p.Pro1733Leu)	Inborn genetic diseases [RCV004968933]	likely benign	16	2765726	2765726	Human	1	name
597632859	CV3611594	single nucleotide variant	NM_016333.4(SRRM2):c.7115C>T (p.Ala2372Val)	Inborn genetic diseases [RCV004968935]	uncertain significance	16	2767643	2767643	Human	1	name
597632863	CV3611595	single nucleotide variant	NM_016333.4(SRRM2):c.3401A>G (p.Glu1134Gly)	Inborn genetic diseases [RCV004968936]	uncertain significance	16	2763929	2763929	Human	1	name
597632869	CV3611597	single nucleotide variant	NM_016333.4(SRRM2):c.3799A>G (p.Asn1267Asp)	Inborn genetic diseases [RCV004968938]	uncertain significance	16	2764327	2764327	Human	1	name
597632873	CV3611598	single nucleotide variant	NM_016333.4(SRRM2):c.6233G>A (p.Arg2078His)	Inborn genetic diseases [RCV004968939]	likely benign	16	2766761	2766761	Human	1	name
597632875	CV3611599	single nucleotide variant	NM_016333.4(SRRM2):c.4960A>G (p.Ser1654Gly)	Inborn genetic diseases [RCV004968940]	uncertain significance	16	2765488	2765488	Human	1	name
597632878	CV3611600	single nucleotide variant	NM_016333.4(SRRM2):c.6442G>C (p.Val2148Leu)	Inborn genetic diseases [RCV004968941]	uncertain significance	16	2766970	2766970	Human	1	name
597632891	CV3611604	single nucleotide variant	NM_016333.4(SRRM2):c.7807C>T (p.Arg2603Trp)	Inborn genetic diseases [RCV004968945]	uncertain significance	16	2769070	2769070	Human	1	name
597632894	CV3611605	single nucleotide variant	NM_016333.4(SRRM2):c.5390C>T (p.Thr1797Ile)	Inborn genetic diseases [RCV004968946]	uncertain significance	16	2765918	2765918	Human	1	name
597632904	CV3611609	single nucleotide variant	NM_016333.4(SRRM2):c.6332G>A (p.Ser2111Asn)	Inborn genetic diseases [RCV004968949]	likely benign	16	2766860	2766860	Human	1	name
597632911	CV3611611	single nucleotide variant	NM_016333.4(SRRM2):c.4687C>T (p.Pro1563Ser)	Inborn genetic diseases [RCV004968951]	likely benign	16	2765215	2765215	Human	1	name
597632925	CV3611615	single nucleotide variant	NM_016333.4(SRRM2):c.5887C>T (p.Pro1963Ser)	Inborn genetic diseases [RCV004968955]	uncertain significance	16	2766415	2766415	Human	1	name
597632927	CV3611616	single nucleotide variant	NM_016333.4(SRRM2):c.5404C>G (p.Gln1802Glu)	Inborn genetic diseases [RCV004968956]	uncertain significance	16	2765932	2765932	Human	1	name
597632932	CV3611617	single nucleotide variant	NM_016333.4(SRRM2):c.7474G>A (p.Gly2492Ser)	Inborn genetic diseases [RCV004968957]	uncertain significance	16	2768002	2768002	Human	1	name
597632933	CV3611618	single nucleotide variant	NM_016333.4(SRRM2):c.4262C>T (p.Ser1421Phe)	Inborn genetic diseases [RCV004968958]	uncertain significance	16	2764790	2764790	Human	1	name
597632938	CV3611619	single nucleotide variant	NM_016333.4(SRRM2):c.8231T>C (p.Met2744Thr)	Inborn genetic diseases [RCV004968959]	uncertain significance	16	2770699	2770699	Human	1	name
597632939	CV3611620	single nucleotide variant	NM_016333.4(SRRM2):c.7394A>G (p.Gln2465Arg)	Inborn genetic diseases [RCV004968960]	uncertain significance	16	2767922	2767922	Human	1	name
597632944	CV3611621	single nucleotide variant	NM_016333.4(SRRM2):c.7338G>T (p.Gln2446His)	Inborn genetic diseases [RCV004968961]	uncertain significance	16	2767866	2767866	Human	1	name
597632948	CV3611622	single nucleotide variant	NM_016333.4(SRRM2):c.7489C>T (p.Pro2497Ser)	Inborn genetic diseases [RCV004968962]	uncertain significance	16	2768017	2768017	Human	1	name
597632950	CV3611623	single nucleotide variant	NM_016333.4(SRRM2):c.7883C>T (p.Ser2628Phe)	Inborn genetic diseases [RCV004968963]	uncertain significance	16	2769146	2769146	Human	1	name
597632954	CV3611624	single nucleotide variant	NM_016333.4(SRRM2):c.4505C>T (p.Ser1502Phe)	Inborn genetic diseases [RCV004968964]	uncertain significance	16	2765033	2765033	Human	1	name
597632957	CV3611625	single nucleotide variant	NM_016333.4(SRRM2):c.7274C>G (p.Pro2425Arg)	Inborn genetic diseases [RCV004968965]	uncertain significance	16	2767802	2767802	Human	1	name
597632960	CV3611626	single nucleotide variant	NM_016333.4(SRRM2):c.7483T>G (p.Ser2495Ala)	Inborn genetic diseases [RCV004968966]	uncertain significance	16	2768011	2768011	Human	1	name
597632968	CV3611628	single nucleotide variant	NM_016333.4(SRRM2):c.5567C>T (p.Thr1856Ile)	Inborn genetic diseases [RCV004968968]	uncertain significance	16	2766095	2766095	Human	1	name
597632973	CV3611630	single nucleotide variant	NM_016333.4(SRRM2):c.5363G>A (p.Arg1788Gln)	Inborn genetic diseases [RCV004968970]	uncertain significance	16	2765891	2765891	Human	1	name
597632977	CV3611631	single nucleotide variant	NM_016333.4(SRRM2):c.5506C>T (p.Arg1836Ter)	Inborn genetic diseases [RCV004968971]	pathogenic	16	2766034	2766034	Human	1	name
597632980	CV3611632	single nucleotide variant	NM_016333.4(SRRM2):c.4113G>A (p.Met1371Ile)	Inborn genetic diseases [RCV004968972]	uncertain significance	16	2764641	2764641	Human	1	name
597632985	CV3611633	single nucleotide variant	NM_016333.4(SRRM2):c.6133C>T (p.Arg2045Cys)	Inborn genetic diseases [RCV004968973]	uncertain significance	16	2766661	2766661	Human	1	name
597632987	CV3611634	single nucleotide variant	NM_016333.4(SRRM2):c.4241C>A (p.Pro1414His)	Inborn genetic diseases [RCV004968974]	uncertain significance	16	2764769	2764769	Human	1	name
597632998	CV3611637	single nucleotide variant	NM_016333.4(SRRM2):c.4165G>C (p.Asp1389His)	Inborn genetic diseases [RCV004968977]	uncertain significance	16	2764693	2764693	Human	1	name
597633001	CV3611638	single nucleotide variant	NM_016333.4(SRRM2):c.5681C>T (p.Pro1894Leu)	Inborn genetic diseases [RCV004968978]	uncertain significance	16	2766209	2766209	Human	1	name
597633003	CV3611639	single nucleotide variant	NM_016333.4(SRRM2):c.3074T>C (p.Leu1025Pro)	Inborn genetic diseases [RCV004968979]	likely benign	16	2763602	2763602	Human	1	name
597633008	CV3611640	single nucleotide variant	NM_016333.4(SRRM2):c.4880C>T (p.Pro1627Leu)	Inborn genetic diseases [RCV004968980]	uncertain significance	16	2765408	2765408	Human	1	name
597633017	CV3611643	single nucleotide variant	NM_016333.4(SRRM2):c.4559A>G (p.Glu1520Gly)	Inborn genetic diseases [RCV004968983]	uncertain significance	16	2765087	2765087	Human	1	name
597633021	CV3611644	single nucleotide variant	NM_016333.4(SRRM2):c.4769G>C (p.Arg1590Pro)	Inborn genetic diseases [RCV004968984]	uncertain significance	16	2765297	2765297	Human	1	name
597633024	CV3611645	single nucleotide variant	NM_016333.4(SRRM2):c.4000A>G (p.Arg1334Gly)	Inborn genetic diseases [RCV004968985]	uncertain significance	16	2764528	2764528	Human	1	name
597633028	CV3611646	single nucleotide variant	NM_016333.4(SRRM2):c.8150G>C (p.Arg2717Pro)	Inborn genetic diseases [RCV004968986]	uncertain significance	16	2770618	2770618	Human	1	name
597633039	CV3611649	single nucleotide variant	NM_016333.4(SRRM2):c.6190G>T (p.Gly2064Cys)	Inborn genetic diseases [RCV004968989]	uncertain significance	16	2766718	2766718	Human	1	name
597633043	CV3611650	single nucleotide variant	NM_016333.4(SRRM2):c.5321G>A (p.Arg1774His)	Inborn genetic diseases [RCV004968990]	uncertain significance	16	2765849	2765849	Human	1	name
597633047	CV3611651	single nucleotide variant	NM_016333.4(SRRM2):c.5647A>C (p.Ile1883Leu)	Inborn genetic diseases [RCV004968991]	uncertain significance	16	2766175	2766175	Human	1	name
597779359	CV3611653	single nucleotide variant	NM_001110199.3(SRRM3):c.275G>A (p.Arg92Gln)	not specified [RCV004873518]	uncertain significance	7	76248229	76248229	Human		name
597779367	CV3611655	single nucleotide variant	NM_001110199.3(SRRM3):c.128A>G (p.Glu43Gly)	not specified [RCV004873520]	uncertain significance	7	76235194	76235194	Human		name
597715461	CV3733191	single nucleotide variant	NM_016333.4(SRRM2):c.5746T>A (p.Ser1916Thr)	not provided [RCV005052380]	uncertain significance	16	2766274	2766274	Human		name
597973102	CV3790936	single nucleotide variant	NM_016333.4(SRRM2):c.5122C>A (p.Arg1708Ser)	not provided [RCV005143151]	uncertain significance	16	2765650	2765650	Human		name
598126126	CV3881784	single nucleotide variant	NM_016333.4(SRRM2):c.4766C>T (p.Ser1589Phe)	not provided [RCV005233335]	uncertain significance	16	2765294	2765294	Human		name
598129765	CV3887186	single nucleotide variant	NM_016333.4(SRRM2):c.6173C>G (p.Thr2058Ser)	not provided [RCV005245246]	uncertain significance	16	2766701	2766701	Human		name
598129851	CV3887273	single nucleotide variant	NM_016333.4(SRRM2):c.6774C>G (p.Asp2258Glu)	not provided [RCV005245333]	likely benign	16	2767302	2767302	Human		name
598216203	CV3891455	single nucleotide variant	NM_016333.4(SRRM2):c.5059C>T (p.Arg1687Ter)	Intellectual developmental disorder, autosomal dominant 72 [RCV005252297]	likely pathogenic	16	2765587	2765587	Human	1	name
598218908	CV3891727	single nucleotide variant	NM_016333.4(SRRM2):c.6007C>T (p.Arg2003Ter)	Intellectual developmental disorder, autosomal dominant 72 [RCV005252570]	pathogenic	16	2766535	2766535	Human	1	name
598202499	CV3892825	single nucleotide variant	NM_016333.4(SRRM2):c.7016T>C (p.Val2339Ala)	not provided [RCV005255155]	uncertain significance	16	2767544	2767544	Human		name
598225318	CV3894233	single nucleotide variant	NM_016333.4(SRRM2):c.4661A>G (p.Gln1554Arg)	not provided [RCV005257476]	likely benign	16	2765189	2765189	Human		name
598173282	CV3912328	single nucleotide variant	NM_001013694.3(SRRD):c.631G>A (p.Gly211Arg)	not specified [RCV005285153]	uncertain significance	22	26490065	26490065	Human		name
598173289	CV3912329	single nucleotide variant	NM_001013694.3(SRRD):c.922A>G (p.Ile308Val)	not specified [RCV005285154]	uncertain significance	22	26491574	26491574	Human		name
598173338	CV3912338	single nucleotide variant	NM_016333.4(SRRM2):c.6997C>G (p.Pro2333Ala)	Inborn genetic diseases [RCV005285162]	likely benign	16	2767525	2767525	Human	1	name
598173343	CV3912339	single nucleotide variant	NM_016333.4(SRRM2):c.7973C>A (p.Ala2658Asp)	Inborn genetic diseases [RCV005285163]	likely benign	16	2769236	2769236	Human	1	name
598212922	CV3912340	single nucleotide variant	NM_016333.4(SRRM2):c.3553G>A (p.Asp1185Asn)	Inborn genetic diseases [RCV005271031]	uncertain significance	16	2764081	2764081	Human	1	name
598173352	CV3912342	single nucleotide variant	NM_016333.4(SRRM2):c.4385C>T (p.Ser1462Phe)	Inborn genetic diseases [RCV005285165]	likely benign	16	2764913	2764913	Human	1	name
598173356	CV3912343	single nucleotide variant	NM_016333.4(SRRM2):c.6385C>T (p.Arg2129Cys)	Inborn genetic diseases [RCV005285166]	likely benign	16	2766913	2766913	Human	1	name
598173361	CV3912344	single nucleotide variant	NM_016333.4(SRRM2):c.6733G>T (p.Ala2245Ser)	Inborn genetic diseases [RCV005285167]	uncertain significance	16	2767261	2767261	Human	1	name
598173365	CV3912345	single nucleotide variant	NM_016333.4(SRRM2):c.4627C>G (p.Gln1543Glu)	Inborn genetic diseases [RCV005285168]	uncertain significance	16	2765155	2765155	Human	1	name
598212927	CV3912346	single nucleotide variant	NM_016333.4(SRRM2):c.3806A>G (p.Glu1269Gly)	Inborn genetic diseases [RCV005271032]	uncertain significance	16	2764334	2764334	Human	1	name
598212930	CV3912348	single nucleotide variant	NM_016333.4(SRRM2):c.4120C>A (p.Gln1374Lys)	Inborn genetic diseases [RCV005271033]	uncertain significance	16	2764648	2764648	Human	1	name
598173377	CV3912349	single nucleotide variant	NM_016333.4(SRRM2):c.5558G>A (p.Arg1853His)	Inborn genetic diseases [RCV005285170]	uncertain significance	16	2766086	2766086	Human	1	name
598173384	CV3912351	single nucleotide variant	NM_016333.4(SRRM2):c.6128G>A (p.Arg2043Gln)	Inborn genetic diseases [RCV005285172]	likely benign	16	2766656	2766656	Human	1	name
598173400	CV3912355	single nucleotide variant	NM_016333.4(SRRM2):c.8194C>T (p.His2732Tyr)	Inborn genetic diseases [RCV005285175]	uncertain significance	16	2770662	2770662	Human	1	name
598173403	CV3912356	single nucleotide variant	NM_016333.4(SRRM2):c.3955A>C (p.Asn1319His)	Inborn genetic diseases [RCV005285176]	uncertain significance	16	2764483	2764483	Human	1	name
598173415	CV3912358	single nucleotide variant	NM_016333.4(SRRM2):c.4981C>T (p.His1661Tyr)	Inborn genetic diseases [RCV005285178]	likely benign	16	2765509	2765509	Human	1	name
598173423	CV3912360	single nucleotide variant	NM_016333.4(SRRM2):c.6188G>A (p.Arg2063Gln)	Inborn genetic diseases [RCV005285180]	likely benign	16	2766716	2766716	Human	1	name
598173434	CV3912362	single nucleotide variant	NM_016333.4(SRRM2):c.4018G>A (p.Gly1340Ser)	Inborn genetic diseases [RCV005285182]	uncertain significance	16	2764546	2764546	Human	1	name
598173441	CV3912364	single nucleotide variant	NM_016333.4(SRRM2):c.5495G>A (p.Arg1832Gln)	Inborn genetic diseases [RCV005285184]	uncertain significance	16	2766023	2766023	Human	1	name
598173447	CV3912365	single nucleotide variant	NM_016333.4(SRRM2):c.6934A>T (p.Thr2312Ser)	Inborn genetic diseases [RCV005285185]	likely benign	16	2767462	2767462	Human	1	name
598173454	CV3912367	single nucleotide variant	NM_016333.4(SRRM2):c.5654G>A (p.Arg1885Gln)	Inborn genetic diseases [RCV005285187]	uncertain significance	16	2766182	2766182	Human	1	name
598173458	CV3912368	single nucleotide variant	NM_016333.4(SRRM2):c.6376C>A (p.Pro2126Thr)	Inborn genetic diseases [RCV005285188]	uncertain significance	16	2766904	2766904	Human	1	name
598173465	CV3912370	single nucleotide variant	NM_016333.4(SRRM2):c.5165C>G (p.Pro1722Arg)	Inborn genetic diseases [RCV005285190]	uncertain significance	16	2765693	2765693	Human	1	name
598173470	CV3912371	single nucleotide variant	NM_016333.4(SRRM2):c.3637A>G (p.Arg1213Gly)	Inborn genetic diseases [RCV005285191]	uncertain significance	16	2764165	2764165	Human	1	name
598173474	CV3912372	single nucleotide variant	NM_016333.4(SRRM2):c.8122C>T (p.Arg2708Trp)	Inborn genetic diseases [RCV005285192]	uncertain significance	16	2770452	2770452	Human	1	name
598173477	CV3912373	single nucleotide variant	NM_016333.4(SRRM2):c.4136C>T (p.Ser1379Phe)	Inborn genetic diseases [RCV005285193]	uncertain significance	16	2764664	2764664	Human	1	name
598173483	CV3912374	single nucleotide variant	NM_016333.4(SRRM2):c.3973A>T (p.Asn1325Tyr)	Inborn genetic diseases [RCV005285194]	uncertain significance	16	2764501	2764501	Human	1	name
598173499	CV3912378	single nucleotide variant	NM_016333.4(SRRM2):c.7519G>T (p.Gly2507Trp)	Inborn genetic diseases [RCV005285198]	uncertain significance	16	2768047	2768047	Human	1	name
598173508	CV3912380	single nucleotide variant	NM_016333.4(SRRM2):c.7468C>T (p.His2490Tyr)	Inborn genetic diseases [RCV005285200]	uncertain significance	16	2767996	2767996	Human	1	name
598173512	CV3912381	single nucleotide variant	NM_016333.4(SRRM2):c.5204C>T (p.Pro1735Leu)	Inborn genetic diseases [RCV005285201]	likely benign	16	2765732	2765732	Human	1	name
598173517	CV3912383	single nucleotide variant	NM_016333.4(SRRM2):c.5524T>G (p.Ser1842Ala)	Inborn genetic diseases [RCV005285202]	uncertain significance	16	2766052	2766052	Human	1	name
598173522	CV3912384	single nucleotide variant	NM_016333.4(SRRM2):c.6710C>T (p.Ala2237Val)	Inborn genetic diseases [RCV005285203]	uncertain significance	16	2767238	2767238	Human	1	name
598173527	CV3912385	single nucleotide variant	NM_016333.4(SRRM2):c.6751C>A (p.Pro2251Thr)	Inborn genetic diseases [RCV005285204]	uncertain significance	16	2767279	2767279	Human	1	name
598173529	CV3912386	single nucleotide variant	NM_016333.4(SRRM2):c.5487A>T (p.Glu1829Asp)	Inborn genetic diseases [RCV005285205]	uncertain significance	16	2766015	2766015	Human	1	name
598173534	CV3912387	single nucleotide variant	NM_016333.4(SRRM2):c.6878C>T (p.Pro2293Leu)	Inborn genetic diseases [RCV005285206]	uncertain significance	16	2767406	2767406	Human	1	name
598173543	CV3912389	single nucleotide variant	NM_016333.4(SRRM2):c.6034C>G (p.Pro2012Ala)	Inborn genetic diseases [RCV005285208]	uncertain significance	16	2766562	2766562	Human	1	name
598173547	CV3912390	single nucleotide variant	NM_016333.4(SRRM2):c.5624G>T (p.Arg1875Leu)	Inborn genetic diseases [RCV005285209]	uncertain significance	16	2766152	2766152	Human	1	name
598173550	CV3912391	single nucleotide variant	NM_016333.4(SRRM2):c.5510G>T (p.Arg1837Leu)	Inborn genetic diseases [RCV005285210]	uncertain significance	16	2766038	2766038	Human	1	name
598173555	CV3912392	single nucleotide variant	NM_016333.4(SRRM2):c.6278C>T (p.Pro2093Leu)	Inborn genetic diseases [RCV005285211]	uncertain significance	16	2766806	2766806	Human	1	name
598173563	CV3912395	single nucleotide variant	NM_016333.4(SRRM2):c.6478C>T (p.Pro2160Ser)	Inborn genetic diseases [RCV005285213]	uncertain significance	16	2767006	2767006	Human	1	name
598173568	CV3912396	single nucleotide variant	NM_016333.4(SRRM2):c.7925C>T (p.Ser2642Phe)	Inborn genetic diseases [RCV005285214]	uncertain significance	16	2769188	2769188	Human	1	name
598212947	CV3912397	single nucleotide variant	NM_016333.4(SRRM2):c.5641C>T (p.Pro1881Ser)	Inborn genetic diseases [RCV005271037]	uncertain significance	16	2766169	2766169	Human	1	name
598173575	CV3912399	single nucleotide variant	NM_016333.4(SRRM2):c.3266A>G (p.Lys1089Arg)	Inborn genetic diseases [RCV005285216]	uncertain significance	16	2763794	2763794	Human	1	name
598173580	CV3912401	single nucleotide variant	NM_016333.4(SRRM2):c.3989C>T (p.Pro1330Leu)	Inborn genetic diseases [RCV005285217]	uncertain significance	16	2764517	2764517	Human	1	name
598173596	CV3912404	single nucleotide variant	NM_016333.4(SRRM2):c.7313C>T (p.Ser2438Phe)	Inborn genetic diseases [RCV005285220]	uncertain significance	16	2767841	2767841	Human	1	name
598173600	CV3912405	single nucleotide variant	NM_016333.4(SRRM2):c.8057G>A (p.Arg2686Lys)	Inborn genetic diseases [RCV005285221]	uncertain significance	16	2770387	2770387	Human	1	name
598173604	CV3912406	single nucleotide variant	NM_016333.4(SRRM2):c.5375G>C (p.Gly1792Ala)	Inborn genetic diseases [RCV005285222]	uncertain significance	16	2765903	2765903	Human	1	name
598173616	CV3912409	single nucleotide variant	NM_016333.4(SRRM2):c.4532C>T (p.Thr1511Ile)	Inborn genetic diseases [RCV005285225]	uncertain significance	16	2765060	2765060	Human	1	name
598173733	CV3922797	single nucleotide variant	NM_001145641.2(SRRM5):c.248G>A (p.Arg83Gln)	not specified [RCV005285244]	likely benign	19	43612369	43612369	Human		name
598173753	CV3922800	single nucleotide variant	NM_001145641.2(SRRM5):c.169A>G (p.Met57Val)	not specified [RCV005285247]	likely benign	19	43612290	43612290	Human		name
617152449	CV4018053	single nucleotide variant	NM_016333.4(SRRM2):c.6734C>T (p.Ala2245Val)	not specified [RCV005417843]	uncertain significance	16	2767262	2767262	Human		name
617150353	CV4021724	single nucleotide variant	NM_016333.4(SRRM2):c.7301C>T (p.Ala2434Val)	not provided [RCV005425693]	likely benign	16	2767829	2767829	Human		name
617150992	CV4021919	single nucleotide variant	NM_016333.4(SRRM2):c.5849C>T (p.Thr1950Ile)	not provided [RCV005426880]	uncertain significance	16	2766377	2766377	Human		name
21075316	CV797295	single nucleotide variant	NM_016333.4(SRRM2):c.3891A>T (p.Glu1297Asp)	not provided [RCV000996174]	uncertain significance	16	2764419	2764419	Human		name
21075317	CV797296	single nucleotide variant	NM_016333.4(SRRM2):c.4784G>A (p.Arg1595His)	not provided [RCV000996175]	uncertain significance	16	2765312	2765312	Human		name
21075318	CV797297	single nucleotide variant	NM_016333.4(SRRM2):c.6884T>C (p.Val2295Ala)	Inborn genetic diseases [RCV003160130]\|not provided [RCV000996176]	uncertain significance	16	2767412	2767412	Human	1	name

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