Srrm2 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

788 records found for search term Srrm2

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
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
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
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
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
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
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
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
408391832	CV3523454	single nucleotide variant	NM_016333.4(SRRM2):c.80G>C (p.Arg27Pro)	not provided [RCV004770828]	uncertain significance	16	2756444	2756444	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
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
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
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
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
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
598129085	CV3886889	single nucleotide variant	NM_016333.4(SRRM2):c.2787C>T (p.Ser929=)	not provided [RCV005244549]	benign	16	2763315	2763315	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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
405727140	CV3235241	deletion	NM_016333.4(SRRM2):c.4537del (p.Gln1513fs)	Neurodevelopmental disorder [RCV004018272]	likely pathogenic	16	2765060	2765060	Human	1	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
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
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
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
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
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
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
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
150536082	CV1312263	single nucleotide variant	NM_016333.4(SRRM2):c.3346C>T (p.Gln1116Ter)	Intellectual developmental disorder, autosomal dominant 72 [RCV003238148]\|Neurodevelopmental disorder [RCV001780025]	pathogenic	16	2763874	2763874	Human	2	name
151347910	CV1323768	single nucleotide variant	NM_016333.4(SRRM2):c.4913C>G (p.Ser1638Ter)	Intellectual developmental disorder, autosomal dominant 72 [RCV003238150]\|Neurodevelopmental disorder [RCV001807702]	pathogenic	16	2765441	2765441	Human	2	name
151347914	CV1323772	single nucleotide variant	NM_016333.4(SRRM2):c.5074C>T (p.Arg1692Ter)	Neurodevelopmental disorder [RCV001807706]	pathogenic	16	2765602	2765602	Human	1	name
151347920	CV1323778	single nucleotide variant	NM_016333.4(SRRM2):c.6127C>T (p.Arg2043Ter)	Intellectual developmental disorder, autosomal dominant 72 [RCV003238152]\|Neurodevelopmental disorder [RCV001807712]	pathogenic	16	2766655	2766655	Human	2	name
151347921	CV1323779	single nucleotide variant	NM_016333.4(SRRM2):c.4616C>A (p.Ser1539Ter)	Intellectual developmental disorder, autosomal dominant 72 [RCV003238153]\|Neurodevelopmental disorder [RCV001807713]	pathogenic	16	2765144	2765144	Human	2	name
151347926	CV1323784	single nucleotide variant	NM_016333.4(SRRM2):c.6265C>T (p.Arg2089Ter)	Neurodevelopmental disorder [RCV001807718]	pathogenic	16	2766793	2766793	Human	1	name
153301098	CV1688943	single nucleotide variant	NM_016333.4(SRRM2):c.3206C>G (p.Ser1069Cys)	SRRM2-related Neurodevelopmental disorder [RCV002266671]	uncertain significance	16	2763734	2763734	Human		name , trait
155265697	CV1695843	single nucleotide variant	NM_016333.4(SRRM2):c.5225C>G (p.Ser1742Ter)	not provided [RCV002280575]	uncertain significance	16	2765753	2765753	Human		name
155645874	CV1709230	single nucleotide variant	NM_016333.4(SRRM2):c.5230C>T (p.Arg1744Ter)	Intellectual developmental disorder, autosomal dominant 72 [RCV004785565]\|not provided [RCV002292106]	pathogenic\|uncertain significance	16	2765758	2765758	Human	1	name
155795544	CV1861363	single nucleotide variant	NM_016333.4(SRRM2):c.5623C>T (p.Arg1875Ter)	not provided [RCV002469645]	uncertain significance	16	2766151	2766151	Human		name
155947647	CV1921715	single nucleotide variant	NM_016333.4(SRRM2):c.4078C>T (p.Leu1360Phe)	not provided [RCV002616038]	uncertain significance	16	2764606	2764606	Human		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
155915478	CV2200325	single nucleotide variant	NM_016333.4(SRRM2):c.8093G>A (p.Arg2698His)	Inborn genetic diseases [RCV002682069]	uncertain significance	16	2770423	2770423	Human	1	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
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
155927284	CV2218338	single nucleotide variant	NM_016333.4(SRRM2):c.5863C>T (p.Arg1955Cys)	Inborn genetic diseases [RCV002683680]	uncertain significance	16	2766391	2766391	Human	1	name
156040607	CV2219492	single nucleotide variant	NM_016333.4(SRRM2):c.3293G>A (p.Arg1098Gln)	Inborn genetic diseases [RCV002692234]	likely benign	16	2763821	2763821	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
156072295	CV2233356	single nucleotide variant	NM_016333.4(SRRM2):c.8018G>A (p.Arg2673Gln)	Inborn genetic diseases [RCV002737431]	uncertain significance	16	2769281	2769281	Human	1	name
155946392	CV2238117	single nucleotide variant	NM_016333.4(SRRM2):c.5236C>T (p.Arg1746Cys)	Inborn genetic diseases [RCV002752546]\|not provided [RCV005425073]	likely benign\|uncertain significance	16	2765764	2765764	Human	1	name
155970528	CV2241438	single nucleotide variant	NM_016333.4(SRRM2):c.5336G>A (p.Arg1779Lys)	Inborn genetic diseases [RCV002776799]	uncertain significance	16	2765864	2765864	Human	1	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
155989038	CV2251274	single nucleotide variant	NM_016333.4(SRRM2):c.3749G>T (p.Gly1250Val)	Inborn genetic diseases [RCV002778387]	uncertain significance	16	2764277	2764277	Human	1	name
155993127	CV2252140	single nucleotide variant	NM_016333.4(SRRM2):c.7693G>A (p.Gly2565Ser)	Inborn genetic diseases [RCV002778720]	uncertain significance	16	2768221	2768221	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
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
156041719	CV2261399	single nucleotide variant	NM_016333.4(SRRM2):c.3448T>C (p.Ser1150Pro)	Inborn genetic diseases [RCV002821783]	uncertain significance	16	2763976	2763976	Human	1	name
155976265	CV2266278	single nucleotide variant	NM_016333.4(SRRM2):c.7907C>T (p.Ser2636Phe)	Inborn genetic diseases [RCV002818164]	uncertain significance	16	2769170	2769170	Human	1	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
155948211	CV2272024	single nucleotide variant	NM_016333.4(SRRM2):c.7589G>A (p.Arg2530Gln)	Inborn genetic diseases [RCV002840078]	uncertain significance	16	2768117	2768117	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
155958471	CV2282203	single nucleotide variant	NM_016333.4(SRRM2):c.4037G>T (p.Gly1346Val)	Inborn genetic diseases [RCV002841085]	uncertain significance	16	2764565	2764565	Human	1	name
155965594	CV2283987	single nucleotide variant	NM_016333.4(SRRM2):c.7714C>T (p.Pro2572Ser)	Inborn genetic diseases [RCV002841727]	uncertain significance	16	2768242	2768242	Human	1	name
155990361	CV2285243	single nucleotide variant	NM_016333.4(SRRM2):c.6590C>T (p.Pro2197Leu)	Inborn genetic diseases [RCV002882385]	uncertain significance	16	2767118	2767118	Human	1	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
156046135	CV2319073	single nucleotide variant	NM_016333.4(SRRM2):c.3440C>G (p.Thr1147Arg)	Inborn genetic diseases [RCV002949840]	uncertain significance	16	2763968	2763968	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
155967763	CV2329964	single nucleotide variant	NM_016333.4(SRRM2):c.3242C>T (p.Ser1081Leu)	Inborn genetic diseases [RCV002945513]	uncertain significance	16	2763770	2763770	Human	1	name
155919633	CV2333232	single nucleotide variant	NM_016333.4(SRRM2):c.3335C>T (p.Ser1112Phe)	Inborn genetic diseases [RCV002969200]	uncertain significance	16	2763863	2763863	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
156035839	CV2338978	single nucleotide variant	NM_016333.4(SRRM2):c.6179G>A (p.Arg2060Gln)	Inborn genetic diseases [RCV002976857]	uncertain significance	16	2766707	2766707	Human	1	name
156065219	CV2346474	single nucleotide variant	NM_016333.4(SRRM2):c.3232C>G (p.Gln1078Glu)	Inborn genetic diseases [RCV003000418]	uncertain significance	16	2763760	2763760	Human	1	name
155924481	CV2352081	single nucleotide variant	NM_016333.4(SRRM2):c.6155G>C (p.Arg2052Pro)	Inborn genetic diseases [RCV002969850]	uncertain significance	16	2766683	2766683	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
156067197	CV2356629	single nucleotide variant	NM_016333.4(SRRM2):c.6085C>T (p.Arg2029Cys)	Inborn genetic diseases [RCV003000530]	uncertain significance	16	2766613	2766613	Human	1	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
155929906	CV2360996	single nucleotide variant	NM_016333.4(SRRM2):c.4649G>T (p.Ser1550Ile)	Inborn genetic diseases [RCV002684017]\|not specified [RCV005406626]	uncertain significance	16	2765177	2765177	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
155928470	CV2363290	single nucleotide variant	NM_016333.4(SRRM2):c.6896G>C (p.Gly2299Ala)	Inborn genetic diseases [RCV002683832]	uncertain significance	16	2767424	2767424	Human	1	name
156052153	CV2363335	single nucleotide variant	NM_016333.4(SRRM2):c.6202T>G (p.Leu2068Val)	Inborn genetic diseases [RCV002692913]	uncertain significance	16	2766730	2766730	Human	1	name
155929366	CV2363501	single nucleotide variant	NM_016333.4(SRRM2):c.5426G>A (p.Arg1809Gln)	Inborn genetic diseases [RCV002683945]	uncertain significance	16	2765954	2765954	Human	1	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
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
156032061	CV2376449	single nucleotide variant	NM_016333.4(SRRM2):c.3101C>T (p.Ser1034Phe)	Inborn genetic diseases [RCV002703730]	uncertain significance	16	2763629	2763629	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
155939815	CV2378854	single nucleotide variant	NM_016333.4(SRRM2):c.4936G>C (p.Gly1646Arg)	Inborn genetic diseases [RCV002730015]	uncertain significance	16	2765464	2765464	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
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 , trait , alternate_id
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
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
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
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
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
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
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
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
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
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
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
401943660	CV2840129	single nucleotide variant	NM_016333.4(SRRM2):c.3752A>G (p.Gln1251Arg)	not provided [RCV003456913]	likely benign	16	2764280	2764280	Human		name
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 , trait , alternate_id
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
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
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
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
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
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
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
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
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
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
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
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
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
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
15178631	CV703592	single nucleotide variant	NM_016333.4(SRRM2):c.4421C>T (p.Ser1474Phe)	not provided [RCV000951328]	benign\|likely benign	16	2764949	2764949	Human		name
15126775	CV714830	single nucleotide variant	NM_016333.4(SRRM2):c.3423C>G (p.Asp1141Glu)	not provided [RCV000963797]	benign\|likely benign	16	2763951	2763951	Human		name
15172982	CV714831	single nucleotide variant	NM_016333.4(SRRM2):c.5255G>C (p.Arg1752Pro)	not provided [RCV000972524]	benign	16	2765783	2765783	Human		name
15168539	CV714832	single nucleotide variant	NM_016333.4(SRRM2):c.5990G>A (p.Arg1997His)	not provided [RCV000971635]	likely benign	16	2766518	2766518	Human		name
15131084	CV714833	single nucleotide variant	NM_016333.4(SRRM2):c.6098G>C (p.Arg2033Pro)	not provided [RCV000964544]	benign	16	2766626	2766626	Human		name
15123984	CV714836	single nucleotide variant	NM_016333.4(SRRM2):c.7787C>T (p.Pro2596Leu)	not provided [RCV000963340]	benign\|likely benign	16	2769050	2769050	Human		name
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 , trait , alternate_id
15181570	CV726531	single nucleotide variant	NM_016333.4(SRRM2):c.7537A>G (p.Thr2513Ala)	not provided [RCV000885795]	benign\|likely benign	16	2768065	2768065	Human		name
15172210	CV726536	single nucleotide variant	NM_016333.4(SRRM2):c.8098C>T (p.Arg2700Cys)	not provided [RCV000883797]	likely benign	16	2770428	2770428	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
401907456	CV2801123	duplication	NM_016333.4(SRRM2):c.339_340dup (p.Gln114fs)	SRRM2-related disorder [RCV003397365]	likely pathogenic	16	2757567	2757568	Human		name , trait , alternate_id
596947268	CV3548818	duplication	NM_016333.4(SRRM2):c.321_327dup (p.Glu110fs)	not provided [RCV004811142]	pathogenic	16	2757548	2757549	Human		name
15123977	CV714825	microsatellite	NM_016333.4(SRRM2):c.794CTG[1] (p.Ala266del)	not provided [RCV000963339]	benign\|likely benign	16	2759622	2759624	Human		name
405286323	CV3218746	microsatellite	NM_016333.4(SRRM2):c.2736ATC[1] (p.Ser914del)	SRRM2-related disorder [RCV003959462]	likely benign	16	2763262	2763264	Human		name , trait , alternate_id
597655244	CV3552211	microsatellite	NM_016333.4(SRRM2):c.2764ATA[1] (p.Ile923del)	Intellectual developmental disorder, autosomal dominant 72 [RCV004821069]	uncertain significance	16	2763291	2763293	Human		name
150536084	CV1312264	deletion	NM_016333.4(SRRM2):c.2970_2971del (p.Gly991fs)	Intellectual developmental disorder, autosomal dominant 72 [RCV003238149]\|Neurodevelopmental disorder [RCV001780026]	pathogenic	16	2763498	2763499	Human	2	name
151347918	CV1323776	deletion	NM_016333.4(SRRM2):c.2214_2215del (p.Arg739fs)	Neurodevelopmental disorder [RCV001807710]	pathogenic	16	2762741	2762742	Human	1	name
151347922	CV1323780	deletion	NM_016333.4(SRRM2):c.2782_2785del (p.Arg928fs)	Intellectual developmental disorder, autosomal dominant 72 [RCV003238154]\|Neurodevelopmental disorder [RCV001807714]	pathogenic	16	2763308	2763311	Human	2	name
405175883	CV3119256	deletion	NM_016333.4(SRRM2):c.2783_2784del (p.Arg928fs)	not provided [RCV003819541]	pathogenic	16	2763310	2763311	Human		name
407453516	CV3416334	microsatellite	NM_016333.4(SRRM2):c.7899TTC[3] (p.Ser2648del)	not provided [RCV004597592]	likely benign	16	2769160	2769162	Human		name
408377989	CV3500901	microsatellite	NM_016333.4(SRRM2):c.7638ATC[1] (p.Ser2556del)	not provided [RCV004722551]	likely benign	16	2768164	2768166	Human		name
597656895	CV3731621	microsatellite	NM_016333.4(SRRM2):c.7194ACC[1] (p.Pro2400del)	not provided [RCV005001802]	uncertain significance	16	2767721	2767723	Human		name
15154361	CV714837	microsatellite	NM_016333.4(SRRM2):c.7857CTC[6] (p.Ser2648del)	not provided [RCV000968723]	benign	16	2769118	2769120	Human		name
151347911	CV1323769	duplication	NM_016333.4(SRRM2):c.4200_4203dup (p.Ile1402fs)	Neurodevelopmental disorder [RCV001807703]	pathogenic	16	2764727	2764728	Human	1	name
151347912	CV1323770	deletion	NM_016333.4(SRRM2):c.3426_3427del (p.Ser1143fs)	Neurodevelopmental disorder [RCV001807704]	pathogenic	16	2763954	2763955	Human	1	name
151347915	CV1323773	duplication	NM_016333.4(SRRM2):c.5410_5411dup (p.Ser1804fs)	Neurodevelopmental disorder [RCV001807707]	pathogenic	16	2765936	2765937	Human	1	name
151347916	CV1323774	microsatellite	NM_016333.4(SRRM2):c.6042_6043del (p.Arg2015fs)	Neurodevelopmental disorder [RCV001807708]	pathogenic	16	2766568	2766569	Human		name
151347923	CV1323781	deletion	NM_016333.4(SRRM2):c.4528_4529del (p.Leu1510fs)	Neurodevelopmental disorder [RCV001807715]	pathogenic	16	2765055	2765056	Human	1	name
151347924	CV1323782	deletion	NM_016333.4(SRRM2):c.4512_4578del (p.Asn1506fs)	Neurodevelopmental disorder [RCV001807716]	pathogenic	16	2765039	2765105	Human	1	name
151347925	CV1323783	deletion	NM_016333.4(SRRM2):c.7254_7257del (p.Met2419fs)	Neurodevelopmental disorder [RCV001807717]	pathogenic	16	2767781	2767784	Human	1	name
155268995	CV1705825	microsatellite	NM_016333.4(SRRM2):c.6777_6778del (p.Arg2260fs)	Status epilepticus [RCV002286480]	likely pathogenic	16	2767302	2767303	Human		name
329395382	CV2473128	microsatellite	NM_016333.4(SRRM2):c.7748_7758del (p.Thr2583fs)	Intellectual developmental disorder, autosomal dominant 72 [RCV004763624]\|not provided [RCV003219112]	pathogenic\|likely pathogenic	16	2769000	2769010	Human		name
401733588	CV2736872	deletion	NM_016333.4(SRRM2):c.1965_1967del (p.Gly656del)	not provided [RCV003313634]	uncertain significance	16	2762492	2762494	Human		name
401912729	CV2829959	duplication	NM_016333.4(SRRM2):c.8225_8234dup (p.His2746fs)	not provided [RCV003441173]	uncertain significance	16	2770692	2770693	Human		name
405026753	CV2852872	microsatellite	NM_016333.4(SRRM2):c.4583_4584del (p.Val1528fs)	Intellectual developmental disorder, autosomal dominant 72 [RCV003494066]	pathogenic	16	2765109	2765110	Human		name
407516771	CV3474845	microsatellite	NM_016333.4(SRRM2):c.8064_8065del (p.Arg2689fs)	Inborn genetic diseases [RCV004675407]	pathogenic	16	2770391	2770392	Human		name
408381760	CV3518078	deletion	NM_016333.4(SRRM2):c.3399_3403del (p.Ser1136fs)	Intellectual developmental disorder, autosomal dominant 72 [RCV004741027]	pathogenic	16	2763926	2763930	Human	1	name
617150212	CV4016820	deletion	NM_016333.4(SRRM2):c.6528_6598del (p.Ala2177fs)	Intellectual developmental disorder, autosomal dominant 72 [RCV005415916]	pathogenic	16	2767056	2767126	Human	1	name
243049757	CV2417138	deletion	NM_016333.4(SRRM2):c.5289_5291del (p.Ser1764del)	not provided [RCV003152009]	uncertain significance	16	2765816	2765818	Human		name
329351054	CV2477884	deletion	NM_016333.4(SRRM2):c.7319_7321del (p.Leu2440del)	not provided [RCV003223997]	uncertain significance	16	2767846	2767848	Human		name
405700929	CV3224939	deletion	NM_016333.4(SRRM2):c.3814_3816del (p.Pro1272del)	Intellectual developmental disorder, autosomal dominant 72 [RCV003989223]	uncertain significance	16	2764340	2764342	Human	1	name
408383922	CV3526847	deletion	NM_016333.4(SRRM2):c.4129_4131del (p.Arg1377del)	not provided [RCV004772160]	uncertain significance	16	2764656	2764658	Human		name
405702671	CV3326841	insertion	NM_016333.4(SRRM2):c.8074_8075insAA (p.Ser2692fs)	Inborn genetic diseases [RCV004460623]	uncertain significance	16	2770403	2770404	Human	1	name
329350762	CV2421803	deletion	NM_016333.4(SRRM2):c.8226del (p.Pro2743_Met2744insTer)	not provided [RCV003159507]	uncertain significance	16	2770693	2770693	Human		name
617152858	CV4020922	microsatellite	NM_016333.4(SRRM2):c.7857CTC[5] (p.Ser2647_Ser2648del)	not provided [RCV005428675]	likely benign	16	2769118	2769123	Human		name
405702090	CV3330697	deletion	NM_016333.4(SRRM2):c.1734_1766del (p.571GRSRSRTPARR[1])	Inborn genetic diseases [RCV004460537]	uncertain significance	16	2762251	2762283	Human	1	name
408373691	CV3502324	deletion	NM_016333.4(SRRM2):c.1719_1751del (p.571GRSRSRTPARR[1])	not provided [RCV004725911]	uncertain significance	16	2762245	2762277	Human		name
329952498	CV2669936	deletion	NM_016333.4(SRRM2):c.6780_6863del (p.Ala2263_Pro2290del)	not provided [RCV003233149]	uncertain significance	16	2767304	2767387	Human		name
597632994	CV3611636	deletion	NM_016333.4(SRRM2):c.5355_5362del (p.Arg1786_Arg1787insTer)	Inborn genetic diseases [RCV004968976]	pathogenic	16	2765882	2765889	Human	1	name
616938531	CV4015020	duplication	NM_016333.4(SRRM2):c.5247_5249dup (p.Ser1750_Pro1751insSer)	not provided [RCV005412036]	uncertain significance	16	2765772	2765773	Human		name
405707133	CV3225338	microsatellite	NM_016333.4(SRRM2):c.7857CTC[9] (p.Ser2648_Pro2649insSerSer)	Intellectual developmental disorder, autosomal dominant 72 [RCV003990392]	uncertain significance	16	2769117	2769118	Human		name
598200144	CV3892626	insertion	NM_016333.4(SRRM2):c.1687_1688insGAC (p.Ser562_His563insArg)	not provided [RCV005254459]	uncertain significance	16	2762214	2762215	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message