Sbds Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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232 records found for search term Sbds

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150334427	CV1171752	single nucleotide variant	NM_016038.4(SBDS):c.*69G>A	not provided [RCV001540038]	benign	7	66988302	66988302	Human		name
150493498	CV1281998	single nucleotide variant	NM_016038.4(SBDS):c.-16T>A	not provided [RCV001717021]	benign	7	66995433	66995433	Human		name
8557269	CV18235	single nucleotide variant	NM_016038.4(SBDS):c.258+2T>C	Aplastic anemia [RCV002272008]\|Aplastic anemia, susceptibility to [RCV000003348]\|Inborn genetic diseases [RCV000623539]\|SBDS-related disorder [RCV003407264]\|Short stature [RCV000626935]\|Shwachman syndrome [RCV001270036]\|Shwachman-Diamond syndrome 1 [RCV000003347 ... (more) ]\|Shwachman-Diamond syndrome 1 [RCV000763594]\|not provided [RCV000255013]\|not specified [RCV000506317]	pathogenic\|likely pathogenic\|risk factor	7	66994210	66994210	Human	14	name , trait , alternate_id
329846512	CV2523752	single nucleotide variant	NM_016038.4(SBDS):c.128+3G>C	Shwachman-Diamond syndrome 1 [RCV003226042]	uncertain significance	7	66995287	66995287	Human	1	name
329953512	CV2668465	single nucleotide variant	NM_016038.4(SBDS):c.129-3A>G	Shwachman-Diamond syndrome 1 [RCV005254755]\|not provided [RCV003230118]	likely pathogenic\|uncertain significance	7	66994344	66994344	Human	1	name
329954971	CV2670903	single nucleotide variant	NM_016038.4(SBDS):c.258+6T>C	not provided [RCV003236171]	uncertain significance	7	66994206	66994206	Human		name
401948925	CV2838318	single nucleotide variant	NM_016038.4(SBDS):c.129-2A>C	Aplastic anemia [RCV003472595]	likely pathogenic	7	66994343	66994343	Human	2	name
401948926	CV2838319	single nucleotide variant	NM_016038.4(SBDS):c.624+1G>A	Aplastic anemia [RCV003472596]\|Shwachman-Diamond syndrome 1 [RCV005254800]	likely pathogenic	7	66991136	66991136	Human	3	name
401948927	CV2838321	single nucleotide variant	NM_016038.4(SBDS):c.128+1G>A	Aplastic anemia [RCV003472598]	likely pathogenic	7	66995289	66995289	Human	2	name
401948928	CV2838322	single nucleotide variant	NM_016038.4(SBDS):c.259-2A>C	Aplastic anemia [RCV003472599]	likely pathogenic	7	66993419	66993419	Human	2	name
8566974	CV34390	single nucleotide variant	NM_016038.4(SBDS):c.258+1G>C	Aplastic anemia [RCV003473116]\|Inborn genetic diseases [RCV002453265]\|Shwachman-Diamond syndrome 1 [RCV000020728]\|Shwachman-Diamond syndrome 1 [RCV000768305]\|not provided [RCV000413600]	pathogenic	7	66994211	66994211	Human	4	name
8566978	CV34394	single nucleotide variant	NM_016038.4(SBDS):c.624+1G>C	Shwachman-Diamond syndrome 1 [RCV000020732]\|not provided [RCV001818170]	pathogenic\|not provided	7	66991136	66991136	Human	1	name
596930163	CV3540194	single nucleotide variant	NM_016038.4(SBDS):c.259-2A>G	not provided [RCV004792181]	likely pathogenic	7	66993419	66993419	Human		name
598228397	CV3893047	single nucleotide variant	NM_016038.4(SBDS):c.129-2A>G	Shwachman-Diamond syndrome 1 [RCV005255374]	pathogenic	7	66994343	66994343	Human	1	name
13211969	CV425762	duplication	NM_016038.4(SBDS):c.624+2dup	not provided [RCV000498161]	likely pathogenic	7	66991134	66991135	Human		name
34888459	CV917739	single nucleotide variant	NM_016038.4(SBDS):c.460-1G>A	Inborn genetic diseases [RCV002339490]\|Shwachman-Diamond syndrome 1 [RCV001194601]	pathogenic	7	66991302	66991302	Human	2	name
126739586	CV1020386	deletion	NM_016038.2(SBDS):c.625-1delG	Shwachman-Diamond syndrome 1 [RCV001335791]	pathogenic	7	66988499	66988499	Human	1	name
150491167	CV1222712	single nucleotide variant	NM_016038.4(SBDS):c.459+92A>G	not provided [RCV001618773]	benign	7	66993125	66993125	Human		name
150509355	CV1229868	single nucleotide variant	NM_016038.4(SBDS):c.128+80T>C	not provided [RCV001636448]	benign	7	66995210	66995210	Human		name
150430734	CV1243454	single nucleotide variant	NM_016038.4(SBDS):c.129-87A>G	not provided [RCV001663073]	benign	7	66994428	66994428	Human		name
150468019	CV1256990	single nucleotide variant	NM_016038.4(SBDS):c.258+54T>G	not provided [RCV001670636]	benign	7	66994158	66994158	Human		name
150492814	CV1257428	single nucleotide variant	NM_016038.4(SBDS):c.258+48T>C	not provided [RCV001675101]	likely benign	7	66994164	66994164	Human		name
150448455	CV1275541	single nucleotide variant	NM_016038.4(SBDS):c.129-80T>C	not provided [RCV001707996]	benign	7	66994421	66994421	Human		name
150451172	CV1276559	single nucleotide variant	NM_016038.4(SBDS):c.129-76A>G	not provided [RCV001708348]	benign	7	66994417	66994417	Human		name
11551614	CV252907	single nucleotide variant	NM_016038.4(SBDS):c.258+19A>G	Aplastic anemia [RCV005235237]\|Shwachman-Diamond syndrome 1 [RCV003316433]\|not provided [RCV001689875]\|not specified [RCV000253271]	benign	7	66994193	66994193	Human	3	name
13435803	CV433900	single nucleotide variant	NM_016038.4(SBDS):c.129-71G>A	Aplastic anemia [RCV005235369]\|Shwachman-Diamond syndrome 1 [RCV003316656]\|not provided [RCV001683546]\|not specified [RCV000506038]	benign	7	66994412	66994412	Human	3	name
150513638	CV1229083	single nucleotide variant	NM_016038.4(SBDS):c.128+266G>A	not provided [RCV001637925]	benign	7	66995024	66995024	Human		name
150464326	CV1252660	single nucleotide variant	NM_016038.4(SBDS):c.129-190A>C	not provided [RCV001669984]	benign	7	66994531	66994531	Human		name
150478564	CV1281999	single nucleotide variant	NM_016038.4(SBDS):c.129-185G>A	not provided [RCV001714316]	benign	7	66994526	66994526	Human		name
150498419	CV1282000	single nucleotide variant	NM_016038.4(SBDS):c.129-170G>A	not provided [RCV001718016]	benign	7	66994511	66994511	Human		name
150478570	CV1282003	single nucleotide variant	NM_016038.4(SBDS):c.459+196T>A	not provided [RCV001714317]	benign	7	66993021	66993021	Human		name
13436929	CV433899	single nucleotide variant	NM_016038.4(SBDS):c.129-160T>G	not specified [RCV000508002]	benign	7	66994501	66994501	Human	2	name
13436929	CV433899	single nucleotide variant	NM_016038.4(SBDS):c.129-160T>G	not specified [RCV000508002]	benign	7	66994501	66994502	Human	2	name
401948923	CV2838315	deletion	NM_016038.4(SBDS):c.129-71_140del	Aplastic anemia [RCV003472592]	likely pathogenic	7	66994330	66994412	Human	2	name
598194985	CV3900043	single nucleotide variant	NM_016038.4(SBDS):c.6G>C (p.Ser2=)	Inborn genetic diseases [RCV005267664]	likely benign	7	66995412	66995412	Human	1	name
598194891	CV3900022	single nucleotide variant	NM_016038.4(SBDS):c.15C>T (p.Thr5=)	Inborn genetic diseases [RCV005267643]	likely benign	7	66995403	66995403	Human	1	name
155664234	CV1786477	single nucleotide variant	NM_016038.4(SBDS):c.36A>G (p.Leu12=)	Inborn genetic diseases [RCV002348892]	likely benign	7	66995382	66995382	Human	1	name
597695732	CV3605191	single nucleotide variant	NM_016038.4(SBDS):c.66T>C (p.Arg22=)	Inborn genetic diseases [RCV004954787]	likely benign	7	66995352	66995352	Human	1	name
597695738	CV3605194	single nucleotide variant	NM_016038.4(SBDS):c.90C>T (p.Ala30=)	Inborn genetic diseases [RCV004954788]	likely benign	7	66995328	66995328	Human	1	name
597695781	CV3605204	single nucleotide variant	NM_016038.4(SBDS):c.72G>A (p.Gly24=)	Inborn genetic diseases [RCV004954794]	likely benign	7	66995346	66995346	Human	1	name
597632550	CV3605215	single nucleotide variant	NM_016038.4(SBDS):c.57G>A (p.Arg19=)	Inborn genetic diseases [RCV004968855]	likely benign	7	66995361	66995361	Human	1	name
598194868	CV3900015	single nucleotide variant	NM_016038.4(SBDS):c.87C>T (p.Ile29=)	Inborn genetic diseases [RCV005267636]	likely benign	7	66995331	66995331	Human	1	name
598195019	CV3900051	single nucleotide variant	NM_016038.4(SBDS):c.51G>A (p.Val17=)	Inborn genetic diseases [RCV005267672]	likely benign	7	66995367	66995367	Human	1	name
12912697	CV421640	duplication	NM_016038.4(SBDS):c.23dup (p.Asn8fs)	not provided [RCV000492909]	likely pathogenic	7	66995394	66995395	Human		name
13482310	CV444152	deletion	NM_016038.4(SBDS):c.13del (p.Thr5fs)	Aplastic anemia [RCV003476214]\|Shwachman-Diamond syndrome 1 [RCV003230528]\|not provided [RCV000521751]	pathogenic\|likely pathogenic	7	66995405	66995405	Human	3	name
21074852	CV798588	deletion	NM_016038.4(SBDS):c.18del (p.Thr7fs)	Aplastic anemia [RCV003473537]\|Shwachman-Diamond syndrome 1 [RCV000995634]	pathogenic	7	66995400	66995400	Human	3	name
150502465	CV1254539	single nucleotide variant	NM_016038.4(SBDS):c.183T>C (p.Ser61=)	Inborn genetic diseases [RCV002414295]\|not provided [RCV001677241]\|not specified [RCV004770186]	benign\|likely benign	7	66994287	66994287	Human	1	name
8557270	CV18236	single nucleotide variant	NM_016038.4(SBDS):c.24C>A (p.Asn8Lys)	Shwachman-Diamond syndrome 1 [RCV000003349]	pathogenic\|uncertain significance	7	66995394	66995394	Human	1	name
155671394	CV1847532	single nucleotide variant	NM_016038.4(SBDS):c.222G>T (p.Ala74=)	Inborn genetic diseases [RCV002420130]	likely benign	7	66994248	66994248	Human	1	name
8566972	CV34388	single nucleotide variant	NM_016038.4(SBDS):c.141C>T (p.Leu47=)	Inborn genetic diseases [RCV002390117]\|Shwachman-Diamond syndrome 1 [RCV000020726]\|not provided [RCV001618216]\|not specified [RCV000244955]	benign	7	66994329	66994329	Human	2	name
8566973	CV34389	single nucleotide variant	NM_016038.4(SBDS):c.201A>G (p.Lys67=)	Aplastic anemia [RCV005234787]\|Inborn genetic diseases [RCV002415423]\|Shwachman-Diamond syndrome 1 [RCV000020727]\|not provided [RCV001650838]\|not specified [RCV000249931]	benign	7	66994269	66994269	Human	4	name
597695746	CV3605197	single nucleotide variant	NM_016038.4(SBDS):c.207A>G (p.Glu69=)	Inborn genetic diseases [RCV004954789]	likely benign	7	66994263	66994263	Human	1	name
597695815	CV3605214	single nucleotide variant	NM_016038.4(SBDS):c.294A>G (p.Lys98=)	Inborn genetic diseases [RCV004954799]	likely benign	7	66993382	66993382	Human	1	name
598194833	CV3900006	single nucleotide variant	NM_016038.4(SBDS):c.261T>A (p.Ile87=)	Inborn genetic diseases [RCV005267627]	likely benign	7	66993415	66993415	Human	1	name
598194858	CV3900012	single nucleotide variant	NM_016038.4(SBDS):c.291T>C (p.Asp97=)	Inborn genetic diseases [RCV005267633]	likely benign	7	66993385	66993385	Human	1	name
598194877	CV3900018	single nucleotide variant	NM_016038.4(SBDS):c.222G>A (p.Ala74=)	Inborn genetic diseases [RCV005267639]	likely benign	7	66994248	66994248	Human	1	name
598194944	CV3900034	single nucleotide variant	NM_016038.4(SBDS):c.23A>G (p.Asn8Ser)	Inborn genetic diseases [RCV005267655]	uncertain significance	7	66995395	66995395	Human	1	name
598195023	CV3900052	single nucleotide variant	NM_016038.4(SBDS):c.14C>G (p.Thr5Ser)	Inborn genetic diseases [RCV005267673]	uncertain significance	7	66995404	66995404	Human	1	name
598195052	CV3900059	single nucleotide variant	NM_016038.4(SBDS):c.267T>C (p.Thr89=)	Inborn genetic diseases [RCV005267680]	likely benign	7	66993409	66993409	Human	1	name
13530494	CV502134	single nucleotide variant	NM_016038.4(SBDS):c.108C>T (p.Val36=)	not specified [RCV000600719]	likely benign	7	66995310	66995310	Human		name
150498423	CV1282001	single nucleotide variant	NM_016038.4(SBDS):c.357T>C (p.Cys119=)	Inborn genetic diseases [RCV002458566]\|not provided [RCV001718017]\|not specified [RCV001821964]	benign\|likely benign	7	66993319	66993319	Human	1	name
151356134	CV1328898	single nucleotide variant	NM_016038.4(SBDS):c.429G>A (p.Ser143=)	Inborn genetic diseases [RCV003355553]\|not specified [RCV001822487]	likely benign	7	66993247	66993247	Human	1	name
155704937	CV1787686	single nucleotide variant	NM_016038.4(SBDS):c.40A>T (p.Asn14Tyr)	Inborn genetic diseases [RCV002323313]	uncertain significance	7	66995378	66995378	Human	1	name
155704124	CV1810632	single nucleotide variant	NM_016038.4(SBDS):c.579G>A (p.Leu193=)	Inborn genetic diseases [RCV002359821]	likely benign	7	66991182	66991182	Human	1	name
155670425	CV1819177	single nucleotide variant	NM_016038.4(SBDS):c.70G>A (p.Gly24Arg)	Inborn genetic diseases [RCV002367357]\|SBDS-related disorder [RCV004756393]	uncertain significance	7	66995348	66995348	Human	2	name , trait , alternate_id
155668159	CV1821879	single nucleotide variant	NM_016038.4(SBDS):c.666G>A (p.Glu222=)	Inborn genetic diseases [RCV002366951]	likely benign	7	66988458	66988458	Human	1	name
8557271	CV18237	duplication	NM_016038.4(SBDS):c.101dup (p.Asn34fs)	Shwachman-Diamond syndrome 1 [RCV000003350]	pathogenic	7	66995316	66995317	Human	1	name
10768587	CV219162	single nucleotide variant	NM_016038.4(SBDS):c.98A>C (p.Lys33Thr)	Aplastic anemia [RCV003474976]\|Shwachman-Diamond syndrome 1 [RCV000206645]	pathogenic\|likely pathogenic	7	66995320	66995320	Human	3	name
329380210	CV2426451	single nucleotide variant	NM_016038.4(SBDS):c.711C>T (p.Leu237=)	Inborn genetic diseases [RCV003187507]	likely benign	7	66988413	66988413	Human	1	name
329380213	CV2426452	single nucleotide variant	NM_016038.4(SBDS):c.333T>C (p.Ile111=)	Inborn genetic diseases [RCV003187508]	likely benign	7	66993343	66993343	Human	1	name
329354903	CV2473276	deletion	NM_016038.4(SBDS):c.258+347_459+223del	Shwachman-Diamond syndrome 1 [RCV003221317]	pathogenic	7	66992994	66993865	Human	1	name
11559958	CV259872	deletion	NM_016038.4(SBDS):c.120del (p.Ser41fs)	Aplastic anemia [RCV003475858]\|Shwachman-Diamond syndrome 1 [RCV000020725]\|Shwachman-Diamond syndrome 1 [RCV002503966]\|not provided [RCV000255360]	pathogenic\|not provided	7	66995298	66995298	Human	3	name
401948920	CV2838311	deletion	NM_016038.4(SBDS):c.107del (p.Val36fs)	Aplastic anemia [RCV003472588]	pathogenic	7	66995311	66995311	Human	2	name
401948813	CV2838316	duplication	NM_016038.4(SBDS):c.115dup (p.Trp39fs)	Aplastic anemia [RCV003472593]	likely pathogenic	7	66995302	66995303	Human	2	name
405706995	CV3384142	single nucleotide variant	NM_016038.4(SBDS):c.387C>T (p.Thr129=)	Inborn genetic diseases [RCV004521887]\|not provided [RCV004598323]	likely benign	7	66993289	66993289	Human	1	name
405855396	CV3394159	single nucleotide variant	NM_016038.4(SBDS):c.38C>T (p.Thr13Ile)	Shwachman-Diamond syndrome 1 [RCV004547386]	uncertain significance	7	66995380	66995380	Human	1	name
405869692	CV3399413	duplication	NM_016038.4(SBDS):c.171dup (p.Val58fs)	Aplastic anemia [RCV004573557]	likely pathogenic	7	66994298	66994299	Human	2	name
8566980	CV34396	single nucleotide variant	NM_016038.4(SBDS):c.651C>T (p.Phe217=)	Aplastic anemia [RCV005234789]\|Inborn genetic diseases [RCV002362593]\|Shwachman-Diamond syndrome 1 [RCV000020734]\|not provided [RCV001711077]\|not specified [RCV000250235]	benign\|not provided	7	66988473	66988473	Human	4	name
596925499	CV3542103	single nucleotide variant	NM_016038.4(SBDS):c.40A>G (p.Asn14Asp)	Shwachman-Diamond syndrome 1 [RCV004795819]	uncertain significance	7	66995378	66995378	Human	2	name
596925853	CV3542167	duplication	NM_016038.4(SBDS):c.160dup (p.His54fs)	Shwachman-Diamond syndrome 1 [RCV004795885]	pathogenic	7	66994309	66994310	Human	2	name
597632532	CV3605196	single nucleotide variant	NM_016038.4(SBDS):c.717G>A (p.Leu239=)	Inborn genetic diseases [RCV004968849]	likely benign	7	66988407	66988407	Human	1	name
597695753	CV3605198	single nucleotide variant	NM_016038.4(SBDS):c.348A>C (p.Ala116=)	Inborn genetic diseases [RCV004954790]	likely benign	7	66993328	66993328	Human	1	name
597632534	CV3605201	single nucleotide variant	NM_016038.4(SBDS):c.71G>A (p.Gly24Glu)	Inborn genetic diseases [RCV004968850]	uncertain significance	7	66995347	66995347	Human	1	name
597695787	CV3605205	single nucleotide variant	NM_016038.4(SBDS):c.366T>C (p.Pro122=)	Inborn genetic diseases [RCV004954795]	likely benign	7	66993310	66993310	Human	1	name
597695803	CV3605209	single nucleotide variant	NM_016038.4(SBDS):c.64C>T (p.Arg22Cys)	Inborn genetic diseases [RCV004954797]	uncertain significance	7	66995354	66995354	Human	1	name
597632546	CV3605213	single nucleotide variant	NM_016038.4(SBDS):c.726A>G (p.Val242=)	Inborn genetic diseases [RCV004968854]	likely benign	7	66988398	66988398	Human	1	name
597695823	CV3605217	single nucleotide variant	NM_016038.4(SBDS):c.76C>T (p.Arg26Cys)	Inborn genetic diseases [RCV004954800]	uncertain significance	7	66995342	66995342	Human	1	name
597695830	CV3605218	single nucleotide variant	NM_016038.4(SBDS):c.735A>G (p.Gly245=)	Inborn genetic diseases [RCV004954801]	likely benign	7	66988389	66988389	Human	1	name
598228400	CV3893048	deletion	NM_016038.4(SBDS):c.123del (p.Ser41fs)	Shwachman-Diamond syndrome 1 [RCV005255375]	pathogenic	7	66995295	66995295	Human	1	name
598194812	CV3900000	single nucleotide variant	NM_016038.4(SBDS):c.657A>G (p.Glu219=)	Inborn genetic diseases [RCV005267621]	likely benign	7	66988467	66988467	Human	1	name
598194818	CV3900002	single nucleotide variant	NM_016038.4(SBDS):c.339T>C (p.Thr113=)	Inborn genetic diseases [RCV005267623]	likely benign	7	66993337	66993337	Human	1	name
598194819	CV3900003	single nucleotide variant	NM_016038.4(SBDS):c.723T>C (p.Asp241=)	Inborn genetic diseases [RCV005267624]	likely benign	7	66988401	66988401	Human	1	name
598194845	CV3900009	single nucleotide variant	NM_016038.4(SBDS):c.681A>G (p.Glu227=)	Inborn genetic diseases [RCV005267630]	likely benign	7	66988443	66988443	Human	1	name
598194860	CV3900013	single nucleotide variant	NM_016038.4(SBDS):c.420C>T (p.Ile140=)	Inborn genetic diseases [RCV005267634]	likely benign	7	66993256	66993256	Human	1	name
598194864	CV3900014	single nucleotide variant	NM_016038.4(SBDS):c.577C>T (p.Leu193=)	Inborn genetic diseases [RCV005267635]	likely benign	7	66991184	66991184	Human	1	name
598194909	CV3900026	single nucleotide variant	NM_016038.4(SBDS):c.348A>G (p.Ala116=)	Inborn genetic diseases [RCV005267647]	likely benign	7	66993328	66993328	Human	1	name
598194922	CV3900029	single nucleotide variant	NM_016038.4(SBDS):c.342T>C (p.Ile114=)	Inborn genetic diseases [RCV005267650]	likely benign	7	66993334	66993334	Human	1	name
598194927	CV3900030	single nucleotide variant	NM_016038.4(SBDS):c.708A>G (p.Val236=)	Inborn genetic diseases [RCV005267651]	likely benign	7	66988416	66988416	Human	1	name
598194932	CV3900031	single nucleotide variant	NM_016038.4(SBDS):c.616T>C (p.Leu206=)	Inborn genetic diseases [RCV005267652]	likely benign	7	66991145	66991145	Human	1	name
598194937	CV3900032	single nucleotide variant	NM_016038.4(SBDS):c.38C>G (p.Thr13Ser)	Inborn genetic diseases [RCV005267653]	uncertain significance	7	66995380	66995380	Human	1	name
598194960	CV3900038	single nucleotide variant	NM_016038.4(SBDS):c.669A>C (p.Leu223=)	Inborn genetic diseases [RCV005267659]	likely benign	7	66988455	66988455	Human	1	name
598194966	CV3900039	single nucleotide variant	NM_016038.4(SBDS):c.32G>T (p.Arg11Leu)	Inborn genetic diseases [RCV005267660]	uncertain significance	7	66995386	66995386	Human	1	name
598194969	CV3900040	single nucleotide variant	NM_016038.4(SBDS):c.71G>T (p.Gly24Val)	Inborn genetic diseases [RCV005267661]	uncertain significance	7	66995347	66995347	Human	1	name
598194993	CV3900045	single nucleotide variant	NM_016038.4(SBDS):c.351C>T (p.Asp117=)	Inborn genetic diseases [RCV005267666]	likely benign	7	66993325	66993325	Human	1	name
598195002	CV3900047	single nucleotide variant	NM_016038.4(SBDS):c.309A>G (p.Gln103=)	Inborn genetic diseases [RCV005267668]	likely benign	7	66993367	66993367	Human	1	name
598195051	CV3900058	single nucleotide variant	NM_016038.4(SBDS):c.633G>C (p.Leu211=)	Inborn genetic diseases [RCV005267679]	likely benign	7	66988491	66988491	Human	1	name
598195069	CV3900063	single nucleotide variant	NM_016038.4(SBDS):c.579G>C (p.Leu193=)	Inborn genetic diseases [RCV005267684]	likely benign	7	66991182	66991182	Human	1	name
12906524	CV415110	single nucleotide variant	NM_016038.4(SBDS):c.41A>G (p.Asn14Ser)	Shwachman-Diamond syndrome 1 [RCV005252924]\|not provided [RCV000489325]	likely pathogenic\|uncertain significance	7	66995377	66995377	Human	1	name
12913464	CV421639	single nucleotide variant	NM_016038.4(SBDS):c.95A>G (p.Tyr32Cys)	Aplastic anemia [RCV003476190]\|not provided [RCV000493847]	likely pathogenic	7	66995323	66995323	Human	2	name
13216681	CV428742	single nucleotide variant	NM_016038.4(SBDS):c.345G>A (p.Val115=)	not specified [RCV000504062]	pathogenic\|likely benign	7	66993331	66993331	Human		name
14699461	CV624356	single nucleotide variant	NM_016038.4(SBDS):c.61A>T (p.Lys21Ter)	not provided [RCV000788830]	likely pathogenic	7	66995357	66995357	Human		name
126746520	CV1016931	deletion	NM_016038.4(SBDS):c.693del (p.Gly232fs)	Shwachman-Diamond syndrome 1 [RCV001330902]	pathogenic	7	66988431	66988431	Human		name
151355569	CV1328636	single nucleotide variant	NM_016038.4(SBDS):c.107T>C (p.Val36Ala)	SBDS-related disorder [RCV003956403]\|not specified [RCV001820641]	uncertain significance	7	66995311	66995311	Human	1	name , trait , alternate_id
152061856	CV1666443	single nucleotide variant	NM_016038.4(SBDS):c.173T>C (p.Val58Ala)	Inborn genetic diseases [RCV003101220]\|Shwachman-Diamond syndrome 1 [RCV002208776]	uncertain significance	7	66994297	66994297	Human	3	name
155722059	CV1840751	single nucleotide variant	NM_016038.4(SBDS):c.217A>C (p.Ser73Arg)	Inborn genetic diseases [RCV002432864]	uncertain significance	7	66994253	66994253	Human	1	name
155703056	CV1852282	single nucleotide variant	NM_016038.4(SBDS):c.266C>G (p.Thr89Ser)	Inborn genetic diseases [RCV002428795]	uncertain significance	7	66993410	66993410	Human	1	name
155679267	CV1854204	single nucleotide variant	NM_016038.4(SBDS):c.274G>C (p.Glu92Gln)	Inborn genetic diseases [RCV002439355]	uncertain significance	7	66993402	66993402	Human	1	name
155921686	CV2276354	single nucleotide variant	NM_016038.4(SBDS):c.160C>T (p.His54Tyr)	Inborn genetic diseases [RCV002859755]	uncertain significance	7	66994310	66994310	Human	1	name
401948921	CV2838312	deletion	NM_016038.4(SBDS):c.523del (p.Arg175fs)	Aplastic anemia [RCV003472589]	likely pathogenic	7	66991238	66991238	Human	2	name
401948817	CV2838320	single nucleotide variant	NM_016038.4(SBDS):c.101A>T (p.Asn34Ile)	Aplastic anemia [RCV003472597]	likely pathogenic	7	66995317	66995317	Human	2	name
405869690	CV3399411	single nucleotide variant	NM_016038.4(SBDS):c.164C>G (p.Ser55Ter)	Aplastic anemia [RCV004573555]	likely pathogenic	7	66994306	66994306	Human	2	name
407514293	CV3483713	single nucleotide variant	NM_016038.4(SBDS):c.115T>C (p.Trp39Arg)	Inborn genetic diseases [RCV004674499]	uncertain significance	7	66995303	66995303	Human	1	name
408381686	CV3501932	single nucleotide variant	NM_016038.4(SBDS):c.166G>A (p.Val56Met)	not provided [RCV004729460]	uncertain significance	7	66994304	66994304	Human		name
408366746	CV3515818	deletion	NM_016038.4(SBDS):c.587del (p.Val196fs)	SBDS-related disorder [RCV004756988]	likely pathogenic	7	66991174	66991174	Human		name , trait , alternate_id
596926775	CV3536334	deletion	NM_016038.4(SBDS):c.566del (p.Lys189fs)	Shwachman-Diamond syndrome 1 [RCV004789741]	likely pathogenic	7	66991195	66991195	Human	1	name
597632529	CV3605195	single nucleotide variant	NM_016038.4(SBDS):c.157A>G (p.Thr53Ala)	Inborn genetic diseases [RCV004968848]	uncertain significance	7	66994313	66994313	Human	1	name
597695768	CV3605200	single nucleotide variant	NM_016038.4(SBDS):c.253A>C (p.Lys85Gln)	Inborn genetic diseases [RCV004954792]	uncertain significance	7	66994217	66994217	Human	1	name
597695776	CV3605203	single nucleotide variant	NM_016038.4(SBDS):c.109G>A (p.Val37Ile)	Inborn genetic diseases [RCV004954793]	uncertain significance	7	66995309	66995309	Human	1	name
597632538	CV3605206	single nucleotide variant	NM_016038.4(SBDS):c.263T>C (p.Leu88Ser)	Inborn genetic diseases [RCV004968851]	uncertain significance	7	66993413	66993413	Human	1	name
597632553	CV3605216	single nucleotide variant	NM_016038.4(SBDS):c.192G>C (p.Gln64His)	Inborn genetic diseases [RCV004968856]	uncertain significance	7	66994278	66994278	Human	1	name
597695853	CV3605223	single nucleotide variant	NM_016038.4(SBDS):c.102C>G (p.Asn34Lys)	Inborn genetic diseases [RCV004954804]	uncertain significance	7	66995316	66995316	Human	1	name
12839407	CV369588	single nucleotide variant	NM_016038.4(SBDS):c.127G>T (p.Val43Leu)	not provided [RCV001354457]\|not specified [RCV001821161]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	66995291	66995291	Human		name
598202655	CV3892668	single nucleotide variant	NM_016038.4(SBDS):c.158C>T (p.Thr53Ile)	Inborn genetic diseases [RCV005269249]\|not provided [RCV005254501]	uncertain significance	7	66994312	66994312	Human	1	name
598228389	CV3893046	single nucleotide variant	NM_016038.4(SBDS):c.170T>C (p.Phe57Ser)	Shwachman-Diamond syndrome 1 [RCV005255373]	uncertain significance	7	66994300	66994300	Human	1	name
598194838	CV3900007	single nucleotide variant	NM_016038.4(SBDS):c.139C>G (p.Leu47Val)	Inborn genetic diseases [RCV005267628]	uncertain significance	7	66994331	66994331	Human	1	name
598194853	CV3900011	single nucleotide variant	NM_016038.4(SBDS):c.274G>A (p.Glu92Lys)	Inborn genetic diseases [RCV005267632]	uncertain significance	7	66993402	66993402	Human	1	name
598194884	CV3900020	single nucleotide variant	NM_016038.4(SBDS):c.191A>G (p.Gln64Arg)	Inborn genetic diseases [RCV005267641]	uncertain significance	7	66994279	66994279	Human	1	name
598194888	CV3900021	single nucleotide variant	NM_016038.4(SBDS):c.117G>T (p.Trp39Cys)	Inborn genetic diseases [RCV005267642]	uncertain significance	7	66995301	66995301	Human	1	name
598194957	CV3900037	single nucleotide variant	NM_016038.4(SBDS):c.177T>G (p.Asn59Lys)	Inborn genetic diseases [RCV005267658]	uncertain significance	7	66994293	66994293	Human	1	name
598195011	CV3900049	single nucleotide variant	NM_016038.4(SBDS):c.218G>A (p.Ser73Asn)	Inborn genetic diseases [RCV005267670]	uncertain significance	7	66994252	66994252	Human	1	name
598195031	CV3900054	single nucleotide variant	NM_016038.4(SBDS):c.257A>G (p.Gln86Arg)	Inborn genetic diseases [RCV005267675]	uncertain significance	7	66994213	66994213	Human	1	name
616934121	CV4012122	single nucleotide variant	NM_016038.4(SBDS):c.250T>C (p.Cys84Arg)	not specified [RCV005409156]	uncertain significance	7	66994220	66994220	Human		name
13488832	CV444151	single nucleotide variant	NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	Inborn genetic diseases [RCV004023534]\|Intellectual disability [RCV001293358]\|Short stature [RCV000626934]\|Shwachman-Diamond syndrome 1 [RCV000987895]\|Shwachman-Diamond syndrome 1 [RCV005034065]\|not provided [RCV000523697]	pathogenic\|likely pathogenic	7	66994286	66994286	Human	11	name
13705027	CV539969	single nucleotide variant	NM_016038.4(SBDS):c.260T>G (p.Ile87Ser)	Shwachman-Diamond syndrome 1 [RCV000664070]	uncertain significance	7	66993416	66993416	Human	1	name
13705025	CV539970	single nucleotide variant	NM_016038.4(SBDS):c.199A>G (p.Lys67Glu)	Shwachman-Diamond syndrome 1 [RCV000664068]	uncertain significance	7	66994271	66994271	Human	1	name
13705024	CV539971	single nucleotide variant	NM_016038.4(SBDS):c.131A>G (p.Glu44Gly)	Shwachman-Diamond syndrome 1 [RCV000664067]	uncertain significance	7	66994339	66994339	Human	1	name
21074851	CV798587	single nucleotide variant	NM_016038.4(SBDS):c.167T>C (p.Val56Ala)	Shwachman-Diamond syndrome 1 [RCV000995633]	likely pathogenic	7	66994303	66994303	Human	1	name
127287991	CV1152274	single nucleotide variant	NM_016038.4(SBDS):c.664G>C (p.Glu222Gln)	Shwachman-Diamond syndrome 1 [RCV005038245]\|not provided [RCV001508208]	uncertain significance	7	66988460	66988460	Human	2	name
151233732	CV1317583	single nucleotide variant	NM_016038.4(SBDS):c.326G>C (p.Arg109Thr)	Shwachman-Diamond syndrome 1 [RCV001788963]	uncertain significance	7	66993350	66993350	Human	1	name
151233953	CV1319218	single nucleotide variant	NM_016038.4(SBDS):c.653G>A (p.Arg218Gln)	Aplastic anemia [RCV003475094]\|Shwachman-Diamond syndrome 1 [RCV001797037]\|not specified [RCV004801050]	likely pathogenic\|uncertain significance	7	66988471	66988471	Human	3	name
151356092	CV1328856	single nucleotide variant	NM_016038.4(SBDS):c.386C>G (p.Thr129Ser)	Inborn genetic diseases [RCV004656661]\|not specified [RCV001822445]	uncertain significance	7	66993290	66993290	Human	1	name
151662765	CV1330672	single nucleotide variant	NM_016038.4(SBDS):c.629G>A (p.Cys210Tyr)	Shwachman-Diamond syndrome 1 [RCV001824235]	likely pathogenic	7	66988495	66988495	Human	1	name
155742021	CV1802579	single nucleotide variant	NM_016038.4(SBDS):c.512A>G (p.His171Arg)	Inborn genetic diseases [RCV002344213]	uncertain significance	7	66991249	66991249	Human	1	name
155706107	CV1807504	single nucleotide variant	NM_016038.4(SBDS):c.613C>T (p.Gln205Ter)	Inborn genetic diseases [RCV002360371]	pathogenic	7	66991148	66991148	Human	1	name
155717953	CV1823075	single nucleotide variant	NM_016038.4(SBDS):c.736G>A (p.Asp246Asn)	Inborn genetic diseases [RCV002380355]\|not provided [RCV004793798]	uncertain significance	7	66988388	66988388	Human	1	name
156268997	CV2195057	single nucleotide variant	NM_016038.4(SBDS):c.524G>A (p.Arg175Gln)	Inborn genetic diseases [RCV002669428]	uncertain significance	7	66991237	66991237	Human	1	name
155932809	CV2228741	duplication	NM_016038.4(SBDS):c.53_56dup (p.Met20fs)	Inborn genetic diseases [RCV002729014]	pathogenic	7	66995361	66995362	Human	1	name
156033771	CV2236357	single nucleotide variant	NM_016038.4(SBDS):c.351C>G (p.Asp117Glu)	Inborn genetic diseases [RCV002758258]	uncertain significance	7	66993325	66993325	Human	1	name
243063928	CV2405457	single nucleotide variant	NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)	Shwachman-Diamond syndrome 1 [RCV003142536]	likely pathogenic	7	66991283	66991283	Human	1	name
243051028	CV2415626	single nucleotide variant	NM_016038.4(SBDS):c.541A>G (p.Asn181Asp)	Inborn genetic diseases [RCV005273634]\|Shwachman-Diamond syndrome 1 [RCV003148226]	uncertain significance	7	66991220	66991220	Human	2	name
329360826	CV2463022	single nucleotide variant	NM_016038.4(SBDS):c.431T>C (p.Val144Ala)	Inborn genetic diseases [RCV003205206]	uncertain significance	7	66993245	66993245	Human	1	name
401770883	CV2686063	single nucleotide variant	NM_016038.4(SBDS):c.695G>T (p.Gly232Val)	Inborn genetic diseases [RCV003284543]	uncertain significance	7	66988429	66988429	Human	1	name
401720822	CV2702133	single nucleotide variant	NM_016038.4(SBDS):c.498G>C (p.Lys166Asn)	Inborn genetic diseases [RCV003267372]	uncertain significance	7	66991263	66991263	Human	1	name
401948922	CV2838313	single nucleotide variant	NM_016038.4(SBDS):c.428C>T (p.Ser143Leu)	Aplastic anemia [RCV003472590]\|Shwachman-Diamond syndrome 1 [RCV005254798]	likely pathogenic	7	66993248	66993248	Human	3	name
405724804	CV3320738	single nucleotide variant	NM_016038.4(SBDS):c.313G>A (p.Glu105Lys)	Inborn genetic diseases [RCV004450299]	uncertain significance	7	66993363	66993363	Human	1	name
405724813	CV3320739	single nucleotide variant	NM_016038.4(SBDS):c.635T>G (p.Ile212Ser)	Inborn genetic diseases [RCV004450300]	uncertain significance	7	66988489	66988489	Human	1	name
405869691	CV3399412	single nucleotide variant	NM_016038.4(SBDS):c.443A>G (p.Lys148Arg)	Aplastic anemia [RCV004573556]	uncertain significance	7	66993233	66993233	Human	2	name
407429273	CV3413627	single nucleotide variant	NM_016038.4(SBDS):c.664G>T (p.Glu222Ter)	Shwachman-Diamond syndrome 1 [RCV004595036]	likely pathogenic	7	66988460	66988460	Human	1	name
8566976	CV34392	single nucleotide variant	NM_016038.4(SBDS):c.377G>C (p.Arg126Thr)	Shwachman-Diamond syndrome 1 [RCV000020730]	pathogenic\|not provided	7	66993299	66993299	Human	1	name
8566977	CV34393	single nucleotide variant	NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)	Aplastic anemia [RCV003473118]\|Shwachman-Diamond syndrome 1 [RCV000020731]\|Shwachman-Diamond syndrome 1 [RCV005394169]\|not provided [RCV003314555]	pathogenic\|likely pathogenic\|uncertain significance	7	66991256	66991256	Human	3	name
8566979	CV34395	single nucleotide variant	NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)	Aplastic anemia [RCV005234788]\|Inborn genetic diseases [RCV002362592]\|Shwachman-Diamond syndrome 1 [RCV000020733]\|not provided [RCV001668130]\|not specified [RCV000202999]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	66988489	66988489	Human	4	name
8566981	CV34397	single nucleotide variant	NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)	Aplastic anemia [RCV003315402]\|Shwachman-Diamond syndrome 1 [RCV000020735]\|not provided [RCV003125834]	pathogenic\|likely pathogenic\|not provided	7	66988472	66988472	Human	3	name
408388582	CV3529030	single nucleotide variant	NM_016038.4(SBDS):c.331A>G (p.Ile111Val)	not provided [RCV004773852]	uncertain significance	7	66993345	66993345	Human		name
596942948	CV3544257	single nucleotide variant	NM_016038.4(SBDS):c.500T>C (p.Ile167Thr)	not specified [RCV004800250]	uncertain significance	7	66991261	66991261	Human		name
12742690	CV359661	single nucleotide variant	NM_016038.4(SBDS):c.388G>A (p.Val130Met)	Inborn genetic diseases [RCV004022157]\|Shwachman-Diamond syndrome 1 [RCV000987894]\|not provided [RCV000414254]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	66993288	66993288	Human	2	name
597632524	CV3605190	single nucleotide variant	NM_016038.4(SBDS):c.745T>A (p.Phe249Ile)	Inborn genetic diseases [RCV004968846]	uncertain significance	7	66988379	66988379	Human	1	name
597632526	CV3605192	single nucleotide variant	NM_016038.4(SBDS):c.514A>G (p.Met172Val)	Inborn genetic diseases [RCV004968847]	uncertain significance	7	66991247	66991247	Human	1	name
597695761	CV3605199	single nucleotide variant	NM_016038.4(SBDS):c.659T>C (p.Ile220Thr)	Inborn genetic diseases [RCV004954791]	uncertain significance	7	66988465	66988465	Human	1	name
597695794	CV3605207	single nucleotide variant	NM_016038.4(SBDS):c.412A>G (p.Lys138Glu)	Inborn genetic diseases [RCV004954796]	uncertain significance	7	66993264	66993264	Human	1	name
597632542	CV3605208	single nucleotide variant	NM_016038.4(SBDS):c.398T>C (p.Ile133Thr)	Inborn genetic diseases [RCV004968852]	uncertain significance	7	66993278	66993278	Human	1	name
597632544	CV3605210	single nucleotide variant	NM_016038.4(SBDS):c.496A>G (p.Lys166Glu)	Inborn genetic diseases [RCV004968853]	uncertain significance	7	66991265	66991265	Human	1	name
597695810	CV3605211	single nucleotide variant	NM_016038.4(SBDS):c.647G>A (p.Cys216Tyr)	Inborn genetic diseases [RCV004954798]	uncertain significance	7	66988477	66988477	Human	1	name
597695838	CV3605219	single nucleotide variant	NM_016038.4(SBDS):c.643G>A (p.Gly215Ser)	Inborn genetic diseases [RCV004954802]	uncertain significance	7	66988481	66988481	Human	1	name
597695845	CV3605220	single nucleotide variant	NM_016038.4(SBDS):c.542A>G (p.Asn181Ser)	Inborn genetic diseases [RCV004954803]	uncertain significance	7	66991219	66991219	Human	1	name
597632556	CV3605222	single nucleotide variant	NM_016038.4(SBDS):c.538G>A (p.Val180Ile)	Inborn genetic diseases [RCV004968857]	uncertain significance	7	66991223	66991223	Human	1	name
597695861	CV3605224	single nucleotide variant	NM_016038.4(SBDS):c.586G>T (p.Val196Phe)	Inborn genetic diseases [RCV004954805]	uncertain significance	7	66991175	66991175	Human	1	name
597632558	CV3605225	single nucleotide variant	NM_016038.4(SBDS):c.446G>C (p.Ser149Thr)	Inborn genetic diseases [RCV004968858]	uncertain significance	7	66993230	66993230	Human	1	name
598228359	CV3893042	single nucleotide variant	NM_016038.4(SBDS):c.501A>G (p.Ile167Met)	Shwachman-Diamond syndrome 1 [RCV005255369]	uncertain significance	7	66991260	66991260	Human	1	name
598228367	CV3893043	single nucleotide variant	NM_016038.4(SBDS):c.410T>C (p.Met137Thr)	Shwachman-Diamond syndrome 1 [RCV005255370]	uncertain significance	7	66993266	66993266	Human	1	name
598228375	CV3893044	single nucleotide variant	NM_016038.4(SBDS):c.354A>C (p.Lys118Asn)	Shwachman-Diamond syndrome 1 [RCV005255371]	uncertain significance	7	66993322	66993322	Human	1	name
598194824	CV3900004	single nucleotide variant	NM_016038.4(SBDS):c.341T>C (p.Ile114Thr)	Inborn genetic diseases [RCV005267625]	uncertain significance	7	66993335	66993335	Human	1	name
598194829	CV3900005	single nucleotide variant	NM_016038.4(SBDS):c.730G>A (p.Glu244Lys)	Inborn genetic diseases [RCV005267626]	uncertain significance	7	66988394	66988394	Human	1	name
598194842	CV3900008	single nucleotide variant	NM_016038.4(SBDS):c.675A>T (p.Lys225Asn)	Inborn genetic diseases [RCV005267629]	uncertain significance	7	66988449	66988449	Human	1	name
598194849	CV3900010	single nucleotide variant	NM_016038.4(SBDS):c.377G>A (p.Arg126Lys)	Inborn genetic diseases [RCV005267631]	uncertain significance	7	66993299	66993299	Human	1	name
598194871	CV3900016	single nucleotide variant	NM_016038.4(SBDS):c.379C>A (p.Pro127Thr)	Inborn genetic diseases [RCV005267637]	uncertain significance	7	66993297	66993297	Human	1	name
598194875	CV3900017	single nucleotide variant	NM_016038.4(SBDS):c.369A>C (p.Glu123Asp)	Inborn genetic diseases [RCV005267638]	uncertain significance	7	66993307	66993307	Human	1	name
598194881	CV3900019	single nucleotide variant	NM_016038.4(SBDS):c.672A>G (p.Ile224Met)	Inborn genetic diseases [RCV005267640]	uncertain significance	7	66988452	66988452	Human	1	name
598194896	CV3900023	single nucleotide variant	NM_016038.4(SBDS):c.739G>A (p.Glu247Lys)	Inborn genetic diseases [RCV005267644]	uncertain significance	7	66988385	66988385	Human	1	name
598194901	CV3900024	single nucleotide variant	NM_016038.4(SBDS):c.382T>C (p.Tyr128His)	Inborn genetic diseases [RCV005267645]	uncertain significance	7	66993294	66993294	Human	1	name
598194904	CV3900025	single nucleotide variant	NM_016038.4(SBDS):c.320T>C (p.Met107Thr)	Inborn genetic diseases [RCV005267646]	uncertain significance	7	66993356	66993356	Human	1	name
598194913	CV3900027	single nucleotide variant	NM_016038.4(SBDS):c.406G>A (p.Ala136Thr)	Inborn genetic diseases [RCV005267648]	uncertain significance	7	66993270	66993270	Human	1	name
598194941	CV3900033	single nucleotide variant	NM_016038.4(SBDS):c.703G>C (p.Glu235Gln)	Inborn genetic diseases [RCV005267654]	uncertain significance	7	66988421	66988421	Human	1	name
598194948	CV3900035	single nucleotide variant	NM_016038.4(SBDS):c.383A>T (p.Tyr128Phe)	Inborn genetic diseases [RCV005267656]	uncertain significance	7	66993293	66993293	Human	1	name
598194952	CV3900036	single nucleotide variant	NM_016038.4(SBDS):c.406G>T (p.Ala136Ser)	Inborn genetic diseases [RCV005267657]	uncertain significance	7	66993270	66993270	Human	1	name
598194973	CV3900041	single nucleotide variant	NM_016038.4(SBDS):c.392T>C (p.Ile131Thr)	Inborn genetic diseases [RCV005267662]	uncertain significance	7	66993284	66993284	Human	1	name
598194979	CV3900042	single nucleotide variant	NM_016038.4(SBDS):c.629G>T (p.Cys210Phe)	Inborn genetic diseases [RCV005267663]	uncertain significance	7	66988495	66988495	Human	1	name
598194988	CV3900044	single nucleotide variant	NM_016038.4(SBDS):c.710T>A (p.Leu237His)	Inborn genetic diseases [RCV005267665]	uncertain significance	7	66988414	66988414	Human	1	name
598194998	CV3900046	single nucleotide variant	NM_016038.4(SBDS):c.521T>A (p.Leu174His)	Inborn genetic diseases [RCV005267667]	uncertain significance	7	66991240	66991240	Human	1	name
598195015	CV3900050	single nucleotide variant	NM_016038.4(SBDS):c.640C>A (p.Pro214Thr)	Inborn genetic diseases [RCV005267671]	uncertain significance	7	66988484	66988484	Human	1	name
598195027	CV3900053	single nucleotide variant	NM_016038.4(SBDS):c.440A>G (p.Asn147Ser)	Inborn genetic diseases [RCV005267674]	uncertain significance	7	66993236	66993236	Human	1	name
598195035	CV3900055	single nucleotide variant	NM_016038.4(SBDS):c.375G>C (p.Lys125Asn)	Inborn genetic diseases [RCV005267676]	uncertain significance	7	66993301	66993301	Human	1	name
598195041	CV3900056	single nucleotide variant	NM_016038.4(SBDS):c.682A>G (p.Thr228Ala)	Inborn genetic diseases [RCV005267677]	uncertain significance	7	66988442	66988442	Human	1	name
598195057	CV3900060	single nucleotide variant	NM_016038.4(SBDS):c.695G>A (p.Gly232Asp)	Inborn genetic diseases [RCV005267681]	uncertain significance	7	66988429	66988429	Human	1	name
598195062	CV3900061	single nucleotide variant	NM_016038.4(SBDS):c.347C>T (p.Ala116Val)	Inborn genetic diseases [RCV005267682]	uncertain significance	7	66993329	66993329	Human	1	name
598195066	CV3900062	single nucleotide variant	NM_016038.4(SBDS):c.321G>C (p.Met107Ile)	Inborn genetic diseases [RCV005267683]	uncertain significance	7	66993355	66993355	Human	1	name
598195073	CV3900064	single nucleotide variant	NM_016038.4(SBDS):c.687A>C (p.Lys229Asn)	Inborn genetic diseases [RCV005267685]	uncertain significance	7	66988437	66988437	Human	1	name
598195076	CV3900065	single nucleotide variant	NM_016038.4(SBDS):c.649T>A (p.Phe217Ile)	Inborn genetic diseases [RCV005267686]	uncertain significance	7	66988475	66988475	Human	1	name
598195082	CV3900066	single nucleotide variant	NM_016038.4(SBDS):c.415G>A (p.Asp139Asn)	Inborn genetic diseases [RCV005267687]	uncertain significance	7	66993261	66993261	Human	1	name
598195087	CV3900067	single nucleotide variant	NM_016038.4(SBDS):c.444G>C (p.Lys148Asn)	Inborn genetic diseases [RCV005267688]	uncertain significance	7	66993232	66993232	Human	1	name
598195091	CV3900068	single nucleotide variant	NM_016038.4(SBDS):c.457C>G (p.Gln153Glu)	Inborn genetic diseases [RCV005267689]	uncertain significance	7	66993219	66993219	Human	1	name
12894974	CV407244	single nucleotide variant	NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)	Aplastic anemia [RCV003476153]\|Shwachman-Diamond syndrome 1 [RCV002063697]\|Shwachman-Diamond syndrome 1 [RCV005252904]\|not provided [RCV000484843]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	66991238	66991238	Human	3	name
13216575	CV428741	single nucleotide variant	NM_016038.4(SBDS):c.671T>C (p.Ile224Thr)	Inborn genetic diseases [RCV004965511]\|not specified [RCV000503933]	uncertain significance	7	66988453	66988453	Human	1	name
21069510	CV796058	single nucleotide variant	NM_016038.4(SBDS):c.719A>G (p.Lys240Arg)	Inborn genetic diseases [RCV004962992]\|Shwachman-Diamond syndrome 1 [RCV005047176]\|not provided [RCV000998798]	uncertain significance	7	66988405	66988405	Human	3	name
8566971	CV34387	deletion	NM_016038.2(SBDS):c.119delG (p.Ser41Alafs)	Shwachman syndrome [RCV000020725]	pathogenic	7	66995299	66995299	Human		name
8566975	CV34391	microsatellite	NM_016038.4(SBDS):c.297_300del (p.Glu99fs)	Aplastic anemia [RCV003473117]\|SBDS-related disorder [RCV003904855]\|Shwachman-Diamond syndrome 1 [RCV000020729]\|Shwachman-Diamond syndrome 1 [RCV002482895]\|not provided [RCV001558258]	pathogenic\|not provided	7	66993376	66993379	Human		name , trait , alternate_id
126739580	CV1020387	duplication	NM_016038.4(SBDS):c.452_453dup (p.Gln152fs)	Aplastic anemia [RCV003475533]\|Shwachman-Diamond syndrome 1 [RCV003131368]	pathogenic\|likely pathogenic	7	66993222	66993223	Human	3	name
150544869	CV1315296	microsatellite	NM_016038.4(SBDS):c.305_308del (p.Thr102fs)	Shwachman-Diamond syndrome 1 [RCV001783711]	likely pathogenic\|conflicting interpretations of pathogenicity	7	66993368	66993371	Human		name
401948924	CV2838317	microsatellite	NM_016038.4(SBDS):c.307_308del (p.Gln103fs)	Aplastic anemia [RCV003472594]\|Shwachman-Diamond syndrome 1 [RCV005036818]\|Shwachman-Diamond syndrome 1 [RCV005254799]	pathogenic	7	66993368	66993369	Human		name
13520681	CV495337	microsatellite	NM_016038.4(SBDS):c.728AAG[1] (p.Glu244del)	Shwachman-Diamond syndrome 1 [RCV005252989]\|not provided [RCV000598834]	likely pathogenic\|uncertain significance	7	66988391	66988393	Human		name
40886885	CV973619	deletion	NM_016038.4(SBDS):c.373_374del (p.Lys125fs)	Inborn genetic diseases [RCV001266193]	pathogenic	7	66993302	66993303	Human	1	name
8654632	CV18234	indel	NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)	Aplastic anemia [RCV003472961]\|Inborn genetic diseases [RCV000622680]\|SBDS-related disorder [RCV003904800]\|Shwachman syndrome [RCV004017224]\|Shwachman-Diamond syndrome 1 [RCV000003346]\|Shwachman-Diamond syndrome 1 [RCV002496241]\|not provided [RCV000255938]	pathogenic	7	66994286	66994287	Human		name , trait , alternate_id
598198621	CV4007204	insertion	NM_016038.4(SBDS):c.77_78insGCCGGGAAGCGC (p.Arg26_Phe27insProGlySerAla)	Hereditary cancer-predisposing syndrome [RCV005398034]	uncertain significance	7	66995340	66995341	Human	1	name

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