Rbbp8 Variant Search Result - Rat Genome Database

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487 records found for search term Rbbp8

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
13216787	CV430046	single nucleotide variant	NM_002894.3(RBBP8):c.-1G>A	not specified [RCV000504061]	uncertain significance	18	22936851	22936851	Human		name
11647916	CV341071	single nucleotide variant	NM_002894.3(RBBP8):c.-83A>G	Microcephaly with mental retardation and digital anomalies [RCV000378399]\|Seckel syndrome [RCV000279244]	uncertain significance	18	22936769	22936769	Human		name
11613580	CV341105	single nucleotide variant	NM_002894.3(RBBP8):c.*97G>C	Microcephaly with mental retardation and digital anomalies [RCV000327114]\|Seckel syndrome [RCV000269771]	uncertain significance	18	23026337	23026337	Human		name
11629892	CV347941	single nucleotide variant	NM_002894.3(RBBP8):c.-57T>C	Microcephaly with mental retardation and digital anomalies [RCV000402446]\|Seckel syndrome [RCV000335375]	uncertain significance	18	22936795	22936795	Human		name
8658656	CV133693	single nucleotide variant	RBBP8:c.298C>T (p.Arg100Trp)	Seckel syndrome 2 [RCV000116205]	pathogenic	18	22968855	22968855	Human		name
11649726	CV330816	single nucleotide variant	NM_002894.3(RBBP8):c.-265C>T	Microcephaly with mental retardation and digital anomalies [RCV000289122]\|Seckel syndrome [RCV000344140]	uncertain significance	18	22933398	22933398	Human		name
11617546	CV330821	single nucleotide variant	NM_002894.3(RBBP8):c.-250G>A	Microcephaly with mental retardation and digital anomalies [RCV000341654]\|Seckel syndrome [RCV000305459]	uncertain significance	18	22933413	22933413	Human		name
11614364	CV330823	single nucleotide variant	NM_002894.3(RBBP8):c.-180G>A	Microcephaly with mental retardation and digital anomalies [RCV000326848]\|Seckel syndrome [RCV000276532]	uncertain significance	18	22933483	22933483	Human		name
11613942	CV330840	single nucleotide variant	NM_002894.3(RBBP8):c.*168T>A	Microcephaly with mental retardation and digital anomalies [RCV000272861]\|Seckel syndrome [RCV000384020]	uncertain significance	18	23026408	23026408	Human		name
11649930	CV341052	single nucleotide variant	NM_002894.3(RBBP8):c.-253G>A	Microcephaly with mental retardation and digital anomalies [RCV000290289]\|Seckel syndrome [RCV000384575]	uncertain significance	18	22933410	22933410	Human		name
11647175	CV341066	single nucleotide variant	NM_002894.3(RBBP8):c.-208G>C	Microcephaly with mental retardation and digital anomalies [RCV000275149]\|Seckel syndrome [RCV000355836]	uncertain significance	18	22933455	22933455	Human		name
11648648	CV341067	single nucleotide variant	NM_002894.3(RBBP8):c.-102G>A	Microcephaly with mental retardation and digital anomalies [RCV000282827]\|Seckel syndrome [RCV000342471]	uncertain significance	18	22933561	22933561	Human		name
11619073	CV341109	single nucleotide variant	NM_002894.3(RBBP8):c.*223C>T	Microcephaly with mental retardation and digital anomalies [RCV000320941]\|Seckel syndrome [RCV000377789]	uncertain significance	18	23026463	23026463	Human		name
11627930	CV346631	single nucleotide variant	NM_002894.3(RBBP8):c.-288G>A	Microcephaly with mental retardation and digital anomalies [RCV000386896]\|Seckel syndrome [RCV000292217]	likely benign	18	22933375	22933375	Human		name
11656387	CV346636	single nucleotide variant	NM_002894.3(RBBP8):c.-269C>T	Microcephaly with mental retardation and digital anomalies [RCV000387620]\|Seckel syndrome [RCV000333170]	uncertain significance	18	22933394	22933394	Human		name
11630060	CV346644	single nucleotide variant	NM_002894.3(RBBP8):c.-252C>T	Microcephaly with mental retardation and digital anomalies [RCV000340383]\|Seckel syndrome [RCV000402867]	benign	18	22933411	22933411	Human		name
11628386	CV346652	single nucleotide variant	NM_002894.3(RBBP8):c.-225G>C	Microcephaly with mental retardation and digital anomalies [RCV000301044]\|Seckel syndrome [RCV000406394]	uncertain significance	18	22933438	22933438	Human		name
11628907	CV347935	single nucleotide variant	NM_002894.3(RBBP8):c.-194C>T	Microcephaly with mental retardation and digital anomalies [RCV000371118]\|Seckel syndrome [RCV000311725]	likely benign	18	22933469	22933469	Human		name
11646835	CV347939	single nucleotide variant	NM_002894.3(RBBP8):c.-165C>G	Microcephaly with mental retardation and digital anomalies [RCV000381600]\|Seckel syndrome [RCV000273120]	uncertain significance	18	22933498	22933498	Human		name
11629581	CV347940	single nucleotide variant	NM_002894.3(RBBP8):c.-134G>A	Microcephaly with mental retardation and digital anomalies [RCV000378223]\|Seckel syndrome [RCV000328192]	uncertain significance	18	22933529	22933529	Human		name
8657659	CV135547	single nucleotide variant	NM_002894.3(RBBP8):c.604+1G>T	Seckel syndrome 2 [RCV000118129]\|not provided [RCV002514585]	pathogenic\|uncertain significance	18	22982394	22982394	Human	1	name
151822556	CV1412465	single nucleotide variant	NM_002894.3(RBBP8):c.152+1G>A	not provided [RCV001919717]	uncertain significance	18	22946487	22946487	Human		name
152130312	CV1584037	single nucleotide variant	NM_002894.3(RBBP8):c.110-4T>G	not provided [RCV002199228]	likely benign	18	22946440	22946440	Human		name
155967250	CV2049054	single nucleotide variant	NM_002894.3(RBBP8):c.428+6T>C	Seckel syndrome 2 [RCV002776565]	uncertain significance	18	22975225	22975225	Human	1	name
10404269	CV208436	single nucleotide variant	NM_002894.3(RBBP8):c.109+6A>G	RBBP8-related disorder [RCV004530143]\|not provided [RCV000894942]\|not specified [RCV000194667]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	22936966	22936966	Human	1	name , trait , alternate_id
156040379	CV2130490	deletion	NM_002894.3(RBBP8):c.604+1del	not provided [RCV002949596]	uncertain significance	18	22982393	22982393	Human		name
405112726	CV3133643	single nucleotide variant	NM_002894.3(RBBP8):c.153-6C>T	not provided [RCV003836436]	likely benign	18	22949612	22949612	Human		name
12847515	CV376719	single nucleotide variant	NM_002894.3(RBBP8):c.153-3T>C	RBBP8-related disorder [RCV004732873]\|not provided [RCV002519547]\|not specified [RCV000443626]	likely benign\|uncertain significance	18	22949615	22949615	Human	1	name , trait , alternate_id
12839400	CV376721	single nucleotide variant	NM_002894.3(RBBP8):c.808-8T>C	not specified [RCV000428743]	likely benign	18	22990929	22990929	Human		name
597927979	CV3816076	single nucleotide variant	NM_002894.3(RBBP8):c.428+7A>G	not provided [RCV005156657]	likely benign	18	22975226	22975226	Human		name
13540050	CV506284	single nucleotide variant	NM_002894.3(RBBP8):c.362-7T>C	not provided [RCV000942364]	likely benign	18	22975146	22975146	Human		name
150405435	CV1178247	single nucleotide variant	NM_002894.3(RBBP8):c.921-97C>A	not provided [RCV001544862]	likely benign	18	22992651	22992651	Human		name
150419285	CV1181612	single nucleotide variant	NM_002894.3(RBBP8):c.153-79A>G	not provided [RCV001550976]	likely benign	18	22949539	22949539	Human		name
150424661	CV1185345	single nucleotide variant	NM_002894.3(RBBP8):c.807+90A>G	not provided [RCV001556956]	likely benign	18	22989408	22989408	Human		name
150484083	CV1222416	single nucleotide variant	NM_002894.3(RBBP8):c.152+24A>T	not provided [RCV001617419]	benign	18	22946510	22946510	Human		name
151348670	CV1324156	single nucleotide variant	NM_002894.3(RBBP8):c.2287+1G>A	Jawad syndrome [RCV001808071]	likely pathogenic	18	23001730	23001730	Human	1	name
151767795	CV1407957	single nucleotide variant	NM_002894.3(RBBP8):c.2143+1G>C	not provided [RCV001914682]	uncertain significance	18	22997735	22997735	Human		name
151802625	CV1437622	single nucleotide variant	NM_002894.3(RBBP8):c.2358-3C>G	not provided [RCV001899200]	uncertain significance	18	23016825	23016825	Human		name
151848136	CV1450871	single nucleotide variant	NM_002894.3(RBBP8):c.2358-2A>G	not provided [RCV001957611]	uncertain significance	18	23016826	23016826	Human		name
151747481	CV1478633	single nucleotide variant	NM_002894.3(RBBP8):c.109+17A>G	not provided [RCV002022999]	likely benign\|uncertain significance	18	22936977	22936977	Human		name
152055167	CV1522514	single nucleotide variant	NM_002894.3(RBBP8):c.153-19T>C	not provided [RCV002146136]	likely benign	18	22949599	22949599	Human		name
152120724	CV1574303	deletion	NM_002894.3(RBBP8):c.808-11del	not provided [RCV002175542]	benign\|conflicting interpretations of pathogenicity	18	22990923	22990923	Human		name
152044795	CV1588656	deletion	NM_002894.3(RBBP8):c.153-17del	not provided [RCV002188707]	likely benign	18	22949599	22949599	Human		name
156151892	CV1961070	single nucleotide variant	NM_002894.3(RBBP8):c.920+15G>A	not provided [RCV002572925]	likely benign	18	22991064	22991064	Human		name
156319566	CV1965975	duplication	NM_002894.3(RBBP8):c.605-11dup	not provided [RCV002600143]	benign	18	22984868	22984869	Human		name
156305311	CV1966267	single nucleotide variant	NM_002894.3(RBBP8):c.605-12T>C	not provided [RCV002578419]	likely benign	18	22984874	22984874	Human		name
156245656	CV1969530	single nucleotide variant	NM_002894.3(RBBP8):c.920+15G>T	not provided [RCV002597299]	likely benign	18	22991064	22991064	Human		name
156042185	CV1999071	single nucleotide variant	NM_002894.3(RBBP8):c.2596+3G>A	Inborn genetic diseases [RCV002659080]\|not provided [RCV002659079]	uncertain significance	18	23022273	23022273	Human	1	name
155957633	CV2040242	duplication	NM_002894.3(RBBP8):c.110-16dup	not provided [RCV002776100]	benign	18	22946424	22946425	Human		name
10403361	CV208441	single nucleotide variant	NM_002894.3(RBBP8):c.1812+6T>A	not specified [RCV000192322]	uncertain significance	18	22993645	22993645	Human		name
10404304	CV208443	single nucleotide variant	NM_002894.3(RBBP8):c.2455-4T>G	not provided [RCV000767032]\|not specified [RCV000194747]	uncertain significance	18	23022125	23022125	Human		name
156374411	CV2190834	single nucleotide variant	NM_002894.3(RBBP8):c.808-16T>C	not provided [RCV003049976]	likely benign	18	22990921	22990921	Human		name
156223478	CV2209231	single nucleotide variant	NM_002894.3(RBBP8):c.1939+3G>T	Inborn genetic diseases [RCV002712281]	uncertain significance	18	22993850	22993850	Human	1	name
405175146	CV2864462	single nucleotide variant	NM_002894.3(RBBP8):c.249-17C>T	not provided [RCV003542667]	likely benign	18	22968789	22968789	Human		name
405121873	CV2888013	single nucleotide variant	NM_002894.3(RBBP8):c.1940-8T>C	not provided [RCV003559073]	likely benign	18	22996366	22996366	Human		name
405208537	CV2909264	single nucleotide variant	NM_002894.3(RBBP8):c.604+19T>C	not provided [RCV003566801]	likely benign	18	22982412	22982412	Human		name
402488996	CV2941668	single nucleotide variant	NM_002894.3(RBBP8):c.709+10A>T	not provided [RCV003660364]	likely benign	18	22985000	22985000	Human		name
405242799	CV2971031	single nucleotide variant	NM_002894.3(RBBP8):c.709+15G>A	not provided [RCV003684295]	likely benign	18	22985005	22985005	Human		name
405091646	CV3122644	single nucleotide variant	NM_002894.3(RBBP8):c.709+18A>G	not provided [RCV003811209]	likely benign	18	22985008	22985008	Human		name
405143805	CV3126105	single nucleotide variant	NM_002894.3(RBBP8):c.361+13T>C	not provided [RCV003817021]	likely benign	18	22968931	22968931	Human		name
405145205	CV3155855	single nucleotide variant	NM_002894.3(RBBP8):c.110-18T>C	not provided [RCV003855897]	likely benign	18	22946426	22946426	Human		name
405853449	CV3392781	single nucleotide variant	NM_002894.3(RBBP8):c.2144-2A>G	not specified [RCV004526506]	uncertain significance	18	23001584	23001584	Human		name
11617048	CV341077	single nucleotide variant	NM_002894.3(RBBP8):c.110-15C>T	not provided [RCV002776101]	likely benign\|uncertain significance	18	22946429	22946429	Human		name
11612743	CV341102	single nucleotide variant	NM_002894.3(RBBP8):c.1813-9C>A	RBBP8-related disorder [RCV004536397]\|not provided [RCV002751359]	likely benign\|uncertain significance	18	22993712	22993712	Human	1	name , trait , alternate_id
11629092	CV346654	single nucleotide variant	NM_002894.3(RBBP8):c.248+12A>C	not provided [RCV002124488]	likely benign\|uncertain significance	18	22949725	22949725	Human		name
597867863	CV3858209	single nucleotide variant	NM_002894.3(RBBP8):c.2029-4T>G	not provided [RCV005196952]	likely benign	18	22997616	22997616	Human		name
13526596	CV506519	single nucleotide variant	NM_002894.3(RBBP8):c.428+18A>C	not provided [RCV002065293]\|not specified [RCV000604335]	likely benign	18	22975237	22975237	Human		name
13526877	CV506876	single nucleotide variant	NM_002894.3(RBBP8):c.429-16T>C	not provided [RCV002529427]\|not specified [RCV000604733]	benign\|likely benign	18	22982202	22982202	Human		name
13541233	CV507319	duplication	NM_002894.3(RBBP8):c.709+12dup	not specified [RCV000615872]	likely benign	18	22985001	22985002	Human		name
14724989	CV669415	single nucleotide variant	NM_002894.3(RBBP8):c.428+37T>C	Jawad syndrome [RCV001796269]\|Seckel syndrome 2 [RCV001796268]\|not provided [RCV000833231]	benign	18	22975256	22975256	Human	2	name
150331615	CV1163643	single nucleotide variant	NM_002894.3(RBBP8):c.709+139T>C	not provided [RCV001527875]	benign	18	22985129	22985129	Human		name
150331916	CV1163644	single nucleotide variant	NM_002894.3(RBBP8):c.2028+86C>T	not provided [RCV001528002]	likely benign	18	22996548	22996548	Human		name
150404773	CV1178246	duplication	NM_002894.3(RBBP8):c.361+269dup	not provided [RCV001544571]	likely benign	18	22969175	22969176	Human		name
150410598	CV1192025	single nucleotide variant	NM_002894.3(RBBP8):c.152+153G>A	not provided [RCV001566137]	likely benign	18	22946639	22946639	Human		name
150410178	CV1192026	single nucleotide variant	NM_002894.3(RBBP8):c.248+210T>C	not provided [RCV001565917]	likely benign	18	22949923	22949923	Human		name
150417474	CV1195294	single nucleotide variant	NM_002894.3(RBBP8):c.109+225A>G	not provided [RCV001568784]	likely benign	18	22937185	22937185	Human		name
150405436	CV1195295	deletion	NM_002894.3(RBBP8):c.110-172del	not provided [RCV001571627]	likely benign	18	22946271	22946271	Human		name
150437643	CV1201284	single nucleotide variant	NM_002894.3(RBBP8):c.2455-68G>A	not provided [RCV001583096]	likely benign	18	23022061	23022061	Human		name
150456653	CV1202523	single nucleotide variant	NM_002894.3(RBBP8):c.1940-97G>T	not provided [RCV001586176]	likely benign	18	22996277	22996277	Human		name
150457604	CV1202643	single nucleotide variant	NM_002894.3(RBBP8):c.109+106G>C	not provided [RCV001586296]	likely benign	18	22937066	22937066	Human		name
150499226	CV1209048	single nucleotide variant	NM_002894.3(RBBP8):c.110-300C>T	not provided [RCV001594265]	likely benign	18	22946144	22946144	Human		name
150491014	CV1210295	single nucleotide variant	NM_002894.3(RBBP8):c.605-196A>G	not provided [RCV001592577]	likely benign	18	22984690	22984690	Human		name
150450207	CV1215217	single nucleotide variant	NM_002894.3(RBBP8):c.1939+56A>G	not provided [RCV001611807]	benign	18	22993903	22993903	Human		name
150466376	CV1218179	single nucleotide variant	NM_002894.3(RBBP8):c.1939+63A>G	not provided [RCV001614305]	benign	18	22993910	22993910	Human		name
150498959	CV1224508	single nucleotide variant	NM_002894.3(RBBP8):c.249-286T>C	not provided [RCV001620338]	benign	18	22968520	22968520	Human		name
150475203	CV1234561	single nucleotide variant	NM_002894.3(RBBP8):c.2144-82T>C	not provided [RCV001651881]	benign	18	23001504	23001504	Human		name
150465784	CV1240299	deletion	NM_002894.3(RBBP8):c.361+269del	not provided [RCV001650060]	benign	18	22969176	22969176	Human		name
150494808	CV1241465	single nucleotide variant	NM_002894.3(RBBP8):c.2143+92T>C	not provided [RCV001655472]	benign	18	22997826	22997826	Human		name
150483716	CV1246997	single nucleotide variant	NM_002894.3(RBBP8):c.808-196A>G	not provided [RCV001673493]	benign	18	22990741	22990741	Human		name
150484081	CV1247064	single nucleotide variant	NM_002894.3(RBBP8):c.428+167G>A	not provided [RCV001673560]	benign	18	22975386	22975386	Human		name
150437600	CV1249897	single nucleotide variant	NM_002894.3(RBBP8):c.110-239A>G	not provided [RCV001665811]	benign	18	22946205	22946205	Human		name
150477337	CV1262487	single nucleotide variant	NM_002894.3(RBBP8):c.709+269T>C	not provided [RCV001685300]	benign	18	22985259	22985259	Human		name
150514603	CV1285258	single nucleotide variant	NM_002894.3(RBBP8):c.248+179G>C	not provided [RCV001722711]	benign	18	22949892	22949892	Human		name
150443396	CV1287878	single nucleotide variant	NM_002894.3(RBBP8):c.807+182A>G	not provided [RCV001725600]	benign	18	22989500	22989500	Human		name
151726115	CV1433429	deletion	NM_002894.3(RBBP8):c.1939+20del	Jawad syndrome [RCV002507761]\|not provided [RCV001983699]	likely benign\|uncertain significance	18	22993866	22993866	Human	1	name
152127460	CV1596393	single nucleotide variant	NM_002894.3(RBBP8):c.2358-11T>C	not provided [RCV002118643]	likely benign	18	23016817	23016817	Human		name
152130774	CV1631016	single nucleotide variant	NM_002894.3(RBBP8):c.1813-16A>G	not provided [RCV002119059]	likely benign	18	22993705	22993705	Human		name
156211296	CV1955772	single nucleotide variant	NM_002894.3(RBBP8):c.1939+20G>T	not provided [RCV002575165]	likely benign	18	22993867	22993867	Human		name
156173608	CV1968469	single nucleotide variant	NM_002894.3(RBBP8):c.1939+17C>T	not provided [RCV002594846]	likely benign	18	22993864	22993864	Human		name
156415472	CV1991092	single nucleotide variant	NM_002894.3(RBBP8):c.2288-20T>C	not provided [RCV002609684]	likely benign	18	23006343	23006343	Human		name
156256637	CV2041290	single nucleotide variant	NM_002894.3(RBBP8):c.2288-19G>C	not provided [RCV002806189]	likely benign	18	23006344	23006344	Human		name
156036288	CV2052543	single nucleotide variant	NM_002894.3(RBBP8):c.2288-19G>A	not provided [RCV002796262]	likely benign	18	23006344	23006344	Human		name
402501301	CV2943714	single nucleotide variant	NM_002894.3(RBBP8):c.1940-20G>C	not provided [RCV003661636]	likely benign	18	22996354	22996354	Human		name
405091685	CV2946970	single nucleotide variant	NM_002894.3(RBBP8):c.2144-19C>T	not provided [RCV003665326]	likely benign	18	23001567	23001567	Human		name
405159864	CV2950208	single nucleotide variant	NM_002894.3(RBBP8):c.1812+16T>C	not provided [RCV003674605]	likely benign	18	22993655	22993655	Human		name
405058660	CV3129357	single nucleotide variant	NM_002894.3(RBBP8):c.2028+13G>T	not provided [RCV003832626]	likely benign	18	22996475	22996475	Human		name
405244803	CV3161609	single nucleotide variant	NM_002894.3(RBBP8):c.1939+20G>A	not provided [RCV003868322]	likely benign	18	22993867	22993867	Human		name
404985878	CV3183822	single nucleotide variant	NM_002894.3(RBBP8):c.1812+18A>G	not provided [RCV003881099]	likely benign	18	22993657	22993657	Human		name
11629780	CV346664	single nucleotide variant	NM_002894.3(RBBP8):c.1939+12A>G	not provided [RCV002056648]\|not specified [RCV000444736]	benign\|likely benign	18	22993859	22993859	Human		name
597930790	CV3745887	single nucleotide variant	NM_002894.3(RBBP8):c.2029-19T>G	not provided [RCV005075872]	likely benign	18	22997601	22997601	Human		name
597840794	CV3756143	single nucleotide variant	NM_002894.3(RBBP8):c.2596+16G>C	not provided [RCV005086415]	likely benign	18	23022286	23022286	Human		name
597880754	CV3810317	single nucleotide variant	NM_002894.3(RBBP8):c.1813-12T>C	not provided [RCV005149778]	likely benign	18	22993709	22993709	Human		name
597894207	CV3857162	single nucleotide variant	NM_002894.3(RBBP8):c.2454+10A>T	not provided [RCV005201026]	likely benign	18	23016934	23016934	Human		name
8568326	CV39365	single nucleotide variant	NM_002894.3(RBBP8):c.2287+53T>G	Seckel syndrome 2 [RCV000023361]	pathogenic	18	23001782	23001782	Human	1	name
14725094	CV668308	single nucleotide variant	NM_002894.3(RBBP8):c.2288-81C>T	not provided [RCV000833279]	benign	18	23006282	23006282	Human		name
14746234	CV669410	single nucleotide variant	NM_002894.3(RBBP8):c.-98-343C>A	not provided [RCV000844222]	benign	18	22936411	22936411	Human		name
14746235	CV669414	single nucleotide variant	NM_002894.3(RBBP8):c.-98-336C>T	not provided [RCV000844223]	benign	18	22936418	22936418	Human		name
14711621	CV669685	single nucleotide variant	NM_002894.3(RBBP8):c.604+162G>A	not provided [RCV000828105]	benign	18	22982555	22982555	Human		name
14716175	CV669686	single nucleotide variant	NM_002894.3(RBBP8):c.710-247G>A	not provided [RCV000829640]	benign	18	22988974	22988974	Human		name
15182127	CV745015	single nucleotide variant	NM_002894.3(RBBP8):c.2597-10T>G	not provided [RCV000907748]	likely benign	18	23026133	23026133	Human		name
150334725	CV1173105	duplication	NM_002894.3(RBBP8):c.2455-296dup	not provided [RCV001540205]	benign	18	23021820	23021821	Human		name
150407084	CV1192027	single nucleotide variant	NM_002894.3(RBBP8):c.2357+272G>A	not provided [RCV001564904]	likely benign	18	23006704	23006704	Human		name
150410979	CV1192028	single nucleotide variant	NM_002894.3(RBBP8):c.2358-204T>C	not provided [RCV001566330]	likely benign	18	23016624	23016624	Human		name
150420672	CV1199017	deletion	NM_002894.3(RBBP8):c.2455-296del	not provided [RCV001577714]	likely benign	18	23021821	23021821	Human		name
150506672	CV1226403	single nucleotide variant	NM_002894.3(RBBP8):c.2596+123G>C	not provided [RCV001635771]	benign	18	23022393	23022393	Human		name
150504144	CV1240696	single nucleotide variant	NM_002894.3(RBBP8):c.2287+118G>A	not provided [RCV001657539]	benign	18	23001847	23001847	Human		name
150431041	CV1243564	single nucleotide variant	NM_002894.3(RBBP8):c.2144-210G>A	not provided [RCV001663184]	benign	18	23001376	23001376	Human		name
150436765	CV1249747	single nucleotide variant	NM_002894.3(RBBP8):c.1939+205G>A	not provided [RCV001665661]	benign	18	22994052	22994052	Human		name
150507545	CV1256960	single nucleotide variant	NM_002894.3(RBBP8):c.2357+130C>T	not provided [RCV001678463]	benign	18	23006562	23006562	Human		name
150492001	CV1280766	single nucleotide variant	NM_002894.3(RBBP8):c.2029-147G>A	not provided [RCV001716734]	benign	18	22997473	22997473	Human		name
14725032	CV669178	single nucleotide variant	NM_002894.3(RBBP8):c.1940-156G>T	not provided [RCV000833252]	benign	18	22996218	22996218	Human		name
14746242	CV669693	single nucleotide variant	NM_002894.3(RBBP8):c.2029-253G>A	not provided [RCV000844230]	benign	18	22997367	22997367	Human		name
14723592	CV669695	single nucleotide variant	NM_002894.3(RBBP8):c.2029-127T>A	not provided [RCV000832603]	benign	18	22997493	22997493	Human		name
150491530	CV1251204	microsatellite	NM_002894.3(RBBP8):c.605-48TCA[2]	Jawad syndrome [RCV001796683]\|Seckel syndrome 2 [RCV001796682]\|not provided [RCV001674872]	benign	18	22984838	22984840	Human		name
151789001	CV1394141	microsatellite	NM_002894.3(RBBP8):c.604+6_604+7del	not provided [RCV002046916]	uncertain significance	18	22982397	22982398	Human		name
156087999	CV1983873	single nucleotide variant	NM_002894.3(RBBP8):c.6C>T (p.Asn2=)	not provided [RCV002621761]	likely benign	18	22936857	22936857	Human		name
155996701	CV1875920	single nucleotide variant	NM_002894.3(RBBP8):c.12G>A (p.Ser4=)	not provided [RCV003076379]	likely benign	18	22936863	22936863	Human		name
150502501	CV1254548	deletion	NM_002894.3(RBBP8):c.-99+17_-99+24del	not provided [RCV001677250]	benign	18	22933580	22933587	Human		name
152028294	CV1586834	microsatellite	NM_002894.3(RBBP8):c.2029-5_2029-2del	not provided [RCV002085417]	likely benign	18	22997609	22997612	Human		name
156097127	CV2110701	single nucleotide variant	NM_002894.3(RBBP8):c.3G>A (p.Met1Ile)	not provided [RCV002926903]	uncertain significance	18	22936854	22936854	Human		name
155913714	CV2149585	deletion	NM_002894.3(RBBP8):c.605-21_605-19del	not provided [RCV003012443]	likely benign	18	22984864	22984866	Human		name
597870895	CV3749975	single nucleotide variant	NM_002894.3(RBBP8):c.48A>G (p.Thr16=)	not provided [RCV005068656]	likely benign	18	22936899	22936899	Human		name
597840386	CV3756077	microsatellite	NM_002894.3(RBBP8):c.153-16_153-13del	not provided [RCV005086349]	likely benign	18	22949596	22949599	Human		name
15186446	CV741308	single nucleotide variant	NM_002894.3(RBBP8):c.93T>C (p.His31=)	not provided [RCV000908810]	likely benign	18	22936944	22936944	Human		name
151851468	CV1349582	single nucleotide variant	NM_002894.3(RBBP8):c.279A>G (p.Ala93=)	RBBP8-related disorder [RCV004538659]\|not provided [RCV001958051]	likely benign\|uncertain significance	18	22968836	22968836	Human	1	name , trait , alternate_id
156119300	CV2183176	single nucleotide variant	NM_002894.3(RBBP8):c.282A>G (p.Val94=)	not provided [RCV003039249]	likely benign	18	22968839	22968839	Human		name
405210110	CV2866876	single nucleotide variant	NM_002894.3(RBBP8):c.255A>G (p.Arg85=)	not provided [RCV003552360]	likely benign	18	22968812	22968812	Human		name
597915796	CV3789110	single nucleotide variant	NM_002894.3(RBBP8):c.279A>C (p.Ala93=)	not provided [RCV005129407]	likely benign	18	22968836	22968836	Human		name
597949765	CV3814762	single nucleotide variant	NM_002894.3(RBBP8):c.216C>A (p.Val72=)	not provided [RCV005160903]	likely benign	18	22949681	22949681	Human		name
597889678	CV3856119	single nucleotide variant	NM_002894.3(RBBP8):c.14G>A (p.Gly5Glu)	not provided [RCV005200364]	uncertain significance	18	22936865	22936865	Human		name
15102481	CV756390	single nucleotide variant	NM_002894.3(RBBP8):c.228C>T (p.Thr76=)	RBBP8-related disorder [RCV004543430]\|not provided [RCV000914973]\|not specified [RCV001818859]	likely benign	18	22949693	22949693	Human	1	name , trait , alternate_id
150334964	CV1166278	single nucleotide variant	NM_002894.3(RBBP8):c.726C>T (p.Ser242=)	not provided [RCV001531278]	likely benign	18	22989237	22989237	Human		name
151889659	CV1420306	single nucleotide variant	NM_002894.3(RBBP8):c.74C>T (p.Thr25Ile)	not provided [RCV002001343]	uncertain significance	18	22936925	22936925	Human		name
152139621	CV1560091	microsatellite	NM_002894.3(RBBP8):c.2287+56_2287+60del	RBBP8-related disorder [RCV004543881]\|not provided [RCV002138003]	likely benign	18	23001778	23001782	Human		name , trait , alternate_id
152040556	CV1561754	single nucleotide variant	NM_002894.3(RBBP8):c.735C>G (p.Thr245=)	not provided [RCV002188194]	likely benign	18	22989246	22989246	Human		name
152164191	CV1619707	single nucleotide variant	NM_002894.3(RBBP8):c.450A>G (p.Ala150=)	not provided [RCV002181485]	likely benign	18	22982239	22982239	Human		name
152064842	CV1654375	single nucleotide variant	NM_002894.3(RBBP8):c.354A>G (p.Thr118=)	not provided [RCV002191012]	likely benign	18	22968911	22968911	Human		name
156388525	CV1996009	single nucleotide variant	NM_002894.3(RBBP8):c.438A>G (p.Gln146=)	not provided [RCV002654175]	likely benign	18	22982227	22982227	Human		name
156293500	CV2047342	single nucleotide variant	NM_002894.3(RBBP8):c.816A>G (p.Gln272=)	not provided [RCV002770867]	likely benign	18	22990945	22990945	Human		name
404992829	CV2850896	single nucleotide variant	NM_002894.3(RBBP8):c.65A>C (p.Asp22Ala)	not provided [RCV003491397]	uncertain significance	18	22936916	22936916	Human		name
405119237	CV2955983	single nucleotide variant	NM_002894.3(RBBP8):c.324T>C (p.Asn108=)	not provided [RCV003671287]	likely benign	18	22968881	22968881	Human		name
405163364	CV3160056	single nucleotide variant	NM_002894.3(RBBP8):c.516C>T (p.Gly172=)	not provided [RCV003857127]	likely benign	18	22982305	22982305	Human		name
11613689	CV341085	single nucleotide variant	NM_002894.3(RBBP8):c.348T>C (p.Leu116=)	Microcephaly with mental retardation and digital anomalies [RCV000270872]\|Seckel syndrome [RCV000370064]	uncertain significance	18	22968905	22968905	Human		name
11613412	CV341091	single nucleotide variant	NM_002894.3(RBBP8):c.891A>G (p.Glu297=)	not provided [RCV000901401]	likely benign\|uncertain significance	18	22991020	22991020	Human		name
11628665	CV346655	single nucleotide variant	NM_002894.3(RBBP8):c.684T>C (p.Tyr228=)	not provided [RCV003117910]	likely benign\|uncertain significance	18	22984965	22984965	Human		name
407467473	CV3468787	single nucleotide variant	NM_002894.3(RBBP8):c.45T>A (p.Asp15Glu)	Inborn genetic diseases [RCV004660730]	uncertain significance	18	22936896	22936896	Human	1	name
11629417	CV347942	single nucleotide variant	NM_002894.3(RBBP8):c.927A>G (p.Ser309=)	Jawad syndrome [RCV000323410]\|Seckel syndrome [RCV000373382]\|not provided [RCV002056647]	likely benign\|uncertain significance	18	22992754	22992754	Human	2	name
408378948	CV3503960	single nucleotide variant	NM_002894.3(RBBP8):c.603T>C (p.Asn201=)	RBBP8-related disorder [RCV004728195]	likely benign	18	22982392	22982392	Human	1	name , trait , alternate_id
597867045	CV3739109	single nucleotide variant	NM_002894.3(RBBP8):c.579A>G (p.Lys193=)	not provided [RCV005068176]	likely benign	18	22982368	22982368	Human		name
597836454	CV3739809	deletion	NM_002894.3(RBBP8):c.2287+14_2287+15del	not provided [RCV005064029]	likely benign	18	23001742	23001743	Human		name
597860715	CV3813432	single nucleotide variant	NM_002894.3(RBBP8):c.897A>G (p.Thr299=)	not provided [RCV005146694]	likely benign	18	22991026	22991026	Human		name
597877405	CV3825783	single nucleotide variant	NM_002894.3(RBBP8):c.315G>A (p.Glu105=)	not provided [RCV005177657]	likely benign	18	22968872	22968872	Human		name
598225394	CV3894244	single nucleotide variant	NM_002894.3(RBBP8):c.522C>T (p.Asn174=)	not provided [RCV005257487]	likely benign	18	22982311	22982311	Human		name
598186179	CV3902447	single nucleotide variant	NM_002894.3(RBBP8):c.53G>A (p.Ser18Asn)	Inborn genetic diseases [RCV005266039]	likely benign	18	22936904	22936904	Human	1	name
13540322	CV507321	single nucleotide variant	NM_002894.3(RBBP8):c.843G>A (p.Glu281=)	Inborn genetic diseases [RCV005260242]\|not provided [RCV000905142]	benign\|likely benign	18	22990972	22990972	Human	1	name
15175392	CV715904	single nucleotide variant	NM_002894.3(RBBP8):c.492G>A (p.Pro164=)	not provided [RCV000972934]\|not specified [RCV001819128]	likely benign	18	22982281	22982281	Human		name
15190895	CV741309	single nucleotide variant	NM_002894.3(RBBP8):c.303A>G (p.Lys101=)	not provided [RCV000910086]	likely benign	18	22968860	22968860	Human		name
15196460	CV756391	single nucleotide variant	NM_002894.3(RBBP8):c.399G>A (p.Lys133=)	not provided [RCV000911702]	likely benign	18	22975190	22975190	Human		name
151354786	CV1327853	single nucleotide variant	NM_002894.3(RBBP8):c.191A>G (p.Gln64Arg)	not specified [RCV001819328]	uncertain significance	18	22949656	22949656	Human		name
8660501	CV135550	single nucleotide variant	NM_002894.3(RBBP8):c.1644T>C (p.Asp548=)	RBBP8-related disorder [RCV004542850]\|not provided [RCV000949829]\|not specified [RCV000118132]	benign\|likely benign\|uncertain significance	18	22993471	22993471	Human	1	name , trait , alternate_id
8660503	CV135553	single nucleotide variant	NM_002894.3(RBBP8):c.2115G>A (p.Lys705=)	Jawad syndrome [RCV001795179]\|Seckel syndrome 2 [RCV001795178]\|not provided [RCV001682822]\|not specified [RCV000118135]	benign\|likely benign	18	22997706	22997706	Human	2	name
151804595	CV1424848	single nucleotide variant	NM_002894.3(RBBP8):c.293A>G (p.His98Arg)	Inborn genetic diseases [RCV002550420]\|Jawad syndrome [RCV002482558]\|not provided [RCV001867436]	uncertain significance	18	22968850	22968850	Human	2	name
152171374	CV1544123	single nucleotide variant	NM_002894.3(RBBP8):c.2055A>G (p.Gly685=)	not provided [RCV002162089]	benign	18	22997646	22997646	Human		name
152173858	CV1567318	single nucleotide variant	NM_002894.3(RBBP8):c.1767T>A (p.Arg589=)	not provided [RCV002144250]	likely benign	18	22993594	22993594	Human		name
152123786	CV1570642	single nucleotide variant	NM_002894.3(RBBP8):c.1326C>G (p.Gly442=)	not provided [RCV002217129]	likely benign	18	22993153	22993153	Human		name
152085548	CV1573738	single nucleotide variant	NM_002894.3(RBBP8):c.1284T>C (p.Ser428=)	not provided [RCV002149876]	likely benign	18	22993111	22993111	Human		name
152027083	CV1593870	single nucleotide variant	NM_002894.3(RBBP8):c.2436G>A (p.Thr812=)	not provided [RCV002104774]	likely benign	18	23016906	23016906	Human		name
152171779	CV1597789	single nucleotide variant	NM_002894.3(RBBP8):c.1743T>C (p.Asn581=)	not provided [RCV002162232]	likely benign	18	22993570	22993570	Human		name
152030605	CV1622258	single nucleotide variant	NM_002894.3(RBBP8):c.2487A>G (p.Glu829=)	not provided [RCV002186510]	likely benign	18	23022161	23022161	Human		name
152089655	CV1634041	single nucleotide variant	NM_002894.3(RBBP8):c.2073C>T (p.Asp691=)	not provided [RCV002194131]	likely benign	18	22997664	22997664	Human		name
152116160	CV1653723	single nucleotide variant	NM_002894.3(RBBP8):c.1467A>G (p.Lys489=)	not provided [RCV002153679]	likely benign	18	22993294	22993294	Human		name
152087947	CV1655513	single nucleotide variant	NM_002894.3(RBBP8):c.1680C>T (p.Ile560=)	not provided [RCV002193893]	likely benign	18	22993507	22993507	Human		name
152123940	CV1660441	single nucleotide variant	NM_002894.3(RBBP8):c.1318T>C (p.Leu440=)	not provided [RCV002154617]	likely benign	18	22993145	22993145	Human		name
156323654	CV1882764	single nucleotide variant	NM_002894.3(RBBP8):c.296T>C (p.Met99Thr)	not provided [RCV003089338]	uncertain significance	18	22968853	22968853	Human		name
156178876	CV1888177	single nucleotide variant	NM_002894.3(RBBP8):c.220C>T (p.His74Tyr)	not provided [RCV003083489]\|not specified [RCV003151438]	uncertain significance	18	22949685	22949685	Human		name
156314098	CV1907009	single nucleotide variant	NM_002894.3(RBBP8):c.2658A>G (p.Ala886=)	not provided [RCV003088617]	likely benign	18	23026204	23026204	Human		name
156177879	CV1953257	single nucleotide variant	NM_002894.3(RBBP8):c.1203A>T (p.Ser401=)	not provided [RCV002574021]	likely benign	18	22993030	22993030	Human		name
156415826	CV1987575	single nucleotide variant	NM_002894.3(RBBP8):c.2655C>T (p.Asn885=)	not provided [RCV002609855]	likely benign	18	23026201	23026201	Human		name
156365246	CV2010679	single nucleotide variant	NM_002894.3(RBBP8):c.2436G>C (p.Thr812=)	not provided [RCV002676516]	likely benign	18	23016906	23016906	Human		name
155907406	CV2048290	single nucleotide variant	NM_002894.3(RBBP8):c.1477C>T (p.Leu493=)	not provided [RCV002771340]	likely benign	18	22993304	22993304	Human		name
10403907	CV208442	single nucleotide variant	NM_002894.3(RBBP8):c.1902T>C (p.Cys634=)	not provided [RCV001857700]\|not specified [RCV000193702]	likely benign\|uncertain significance	18	22993810	22993810	Human		name
156312206	CV2120090	single nucleotide variant	NM_002894.3(RBBP8):c.1110T>G (p.Ser370=)	not provided [RCV002962685]	likely benign	18	22992937	22992937	Human		name
156070342	CV2172585	single nucleotide variant	NM_002894.3(RBBP8):c.2368T>C (p.Leu790=)	not provided [RCV003053698]	likely benign	18	23016838	23016838	Human		name
401775490	CV2710587	single nucleotide variant	NM_002894.3(RBBP8):c.189T>G (p.Asn63Lys)	Inborn genetic diseases [RCV003262913]	uncertain significance	18	22949654	22949654	Human	1	name
405118975	CV2955931	single nucleotide variant	NM_002894.3(RBBP8):c.1827T>C (p.His609=)	RBBP8-related disorder [RCV004539054]\|not provided [RCV003671258]	likely benign	18	22993735	22993735	Human	1	name , trait , alternate_id
405127216	CV2958596	single nucleotide variant	NM_002894.3(RBBP8):c.1383C>G (p.Pro461=)	not provided [RCV003668040]	likely benign	18	22993210	22993210	Human		name
405146409	CV2962690	single nucleotide variant	NM_002894.3(RBBP8):c.1704T>A (p.Ser568=)	not provided [RCV003673678]	likely benign	18	22993531	22993531	Human		name
405121334	CV3024596	single nucleotide variant	NM_002894.3(RBBP8):c.2271C>T (p.Ala757=)	not provided [RCV003700791]	likely benign	18	23001713	23001713	Human		name
405236081	CV3038016	single nucleotide variant	NM_002894.3(RBBP8):c.2232C>T (p.Phe744=)	not provided [RCV003712381]	likely benign	18	23001674	23001674	Human		name
405228397	CV3065801	single nucleotide variant	NM_002894.3(RBBP8):c.2337G>A (p.Pro779=)	not provided [RCV003734461]	likely benign	18	23006412	23006412	Human		name
405033336	CV3075165	single nucleotide variant	NM_002894.3(RBBP8):c.2079A>C (p.Thr693=)	not provided [RCV003739313]	likely benign	18	22997670	22997670	Human		name
405209547	CV3117334	single nucleotide variant	NM_002894.3(RBBP8):c.1977G>A (p.Pro659=)	not provided [RCV003823121]	likely benign	18	22996411	22996411	Human		name
405102526	CV3119454	single nucleotide variant	NM_002894.3(RBBP8):c.2494T>C (p.Leu832=)	not provided [RCV003811716]	likely benign	18	23022168	23022168	Human		name
405106526	CV3136135	single nucleotide variant	NM_002894.3(RBBP8):c.1638C>G (p.Pro546=)	not provided [RCV003835481]	likely benign	18	22993465	22993465	Human		name
402465932	CV3177381	single nucleotide variant	NM_002894.3(RBBP8):c.2061A>G (p.Thr687=)	not provided [RCV003873012]	likely benign	18	22997652	22997652	Human		name
11658819	CV330824	single nucleotide variant	NM_002894.3(RBBP8):c.1260T>C (p.Asn420=)	Microcephaly with mental retardation and digital anomalies [RCV000351837]\|Seckel syndrome [RCV000391580]	uncertain significance	18	22993087	22993087	Human		name
11615804	CV330831	single nucleotide variant	NM_002894.3(RBBP8):c.1290T>A (p.Thr430=)	RBBP8-related disorder [RCV004544587]\|not provided [RCV000900773]	benign\|likely benign\|uncertain significance	18	22993117	22993117	Human	1	name , trait , alternate_id
11622328	CV330832	single nucleotide variant	NM_002894.3(RBBP8):c.1386A>G (p.Gln462=)	Microcephaly with mental retardation and digital anomalies [RCV000359219]\|Seckel syndrome [RCV000402481]	uncertain significance	18	22993213	22993213	Human		name
11612622	CV341092	single nucleotide variant	NM_002894.3(RBBP8):c.1632G>A (p.Thr544=)	not provided [RCV000888027]	likely benign\|uncertain significance	18	22993459	22993459	Human		name
11657317	CV341103	single nucleotide variant	NM_002894.3(RBBP8):c.2142A>T (p.Ser714=)	Microcephaly with mental retardation and digital anomalies [RCV000402827]\|Seckel syndrome [RCV000340237]	uncertain significance	18	22997733	22997733	Human		name
407507285	CV3468785	single nucleotide variant	NM_002894.3(RBBP8):c.202G>A (p.Glu68Lys)	Inborn genetic diseases [RCV004671669]	uncertain significance	18	22949667	22949667	Human	1	name
597921435	CV3738385	single nucleotide variant	NM_002894.3(RBBP8):c.2334G>A (p.Glu778=)	not provided [RCV005074791]	likely benign	18	23006409	23006409	Human		name
597878297	CV3744357	single nucleotide variant	NM_002894.3(RBBP8):c.1584T>C (p.Ile528=)	not provided [RCV005069571]	likely benign	18	22993411	22993411	Human		name
597966082	CV3751494	single nucleotide variant	NM_002894.3(RBBP8):c.1566T>C (p.Tyr522=)	not provided [RCV005082863]	likely benign	18	22993393	22993393	Human		name
12849426	CV376900	single nucleotide variant	NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter)	Seckel syndrome 2 [RCV002272237]\|not provided [RCV000429695]	likely pathogenic	18	22946473	22946473	Human	1	name
597932632	CV3789836	single nucleotide variant	NM_002894.3(RBBP8):c.1146T>C (p.Ser382=)	not provided [RCV005131915]	likely benign	18	22992973	22992973	Human		name
597895056	CV3806280	single nucleotide variant	NM_002894.3(RBBP8):c.1413C>T (p.Phe471=)	not provided [RCV005151863]	likely benign	18	22993240	22993240	Human		name
15167565	CV715905	single nucleotide variant	NM_002894.3(RBBP8):c.1791G>A (p.Glu597=)	not provided [RCV000971425]	benign	18	22993618	22993618	Human		name
15166169	CV741311	single nucleotide variant	NM_002894.3(RBBP8):c.1782G>A (p.Leu594=)	not provided [RCV000904384]	likely benign	18	22993609	22993609	Human		name
15127176	CV756392	single nucleotide variant	NM_002894.3(RBBP8):c.1134A>G (p.Lys378=)	not provided [RCV000919452]	likely benign	18	22992961	22992961	Human		name
15202529	CV756393	single nucleotide variant	NM_002894.3(RBBP8):c.1593C>A (p.Gly531=)	not provided [RCV000913454]	likely benign	18	22993420	22993420	Human		name
15177662	CV772047	single nucleotide variant	NM_002894.3(RBBP8):c.2196A>T (p.Thr732=)	not provided [RCV000929213]	likely benign	18	23001638	23001638	Human		name
15115713	CV785842	single nucleotide variant	NM_002894.3(RBBP8):c.1167T>C (p.Ser389=)	not provided [RCV000978460]	likely benign	18	22992994	22992994	Human		name
150410669	CV1196200	single nucleotide variant	NM_002894.3(RBBP8):c.329G>A (p.Arg110Gln)	Inborn genetic diseases [RCV004039404]\|not provided [RCV001573240]	uncertain significance	18	22968886	22968886	Human	1	name
150434247	CV1243903	duplication	NM_002894.3(RBBP8):c.2455-297_2455-296dup	not provided [RCV001665110]	likely benign	18	23021820	23021821	Human		name
150544810	CV1315258	single nucleotide variant	NM_002894.3(RBBP8):c.367G>T (p.Glu123Ter)	not provided [RCV001783672]	likely pathogenic	18	22975158	22975158	Human		name
150544812	CV1315259	deletion	NM_002894.3(RBBP8):c.1072del (p.His358fs)	Inborn genetic diseases [RCV002544269]\|not provided [RCV001783673]	pathogenic\|likely pathogenic	18	22992899	22992899	Human	1	name
8657467	CV132702	single nucleotide variant	NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)	Jawad syndrome [RCV002470768]\|Jawad syndrome [RCV002490771]\|Seckel syndrome 2 [RCV000115043]\|not specified [RCV001818257]	pathogenic\|likely pathogenic\|uncertain significance	18	22968855	22968855	Human	2	name
151355992	CV1328756	single nucleotide variant	NM_002894.3(RBBP8):c.335A>G (p.Gln112Arg)	not specified [RCV001822345]	uncertain significance	18	22968892	22968892	Human		name
151812897	CV1343652	single nucleotide variant	NM_002894.3(RBBP8):c.703A>G (p.Met235Val)	not provided [RCV001918788]	uncertain significance	18	22984984	22984984	Human		name
151844015	CV1363377	single nucleotide variant	NM_002894.3(RBBP8):c.689A>C (p.Gln230Pro)	not provided [RCV002032163]	uncertain significance	18	22984970	22984970	Human		name
151781745	CV1369707	single nucleotide variant	NM_002894.3(RBBP8):c.328C>T (p.Arg110Trp)	not provided [RCV001930504]	uncertain significance	18	22968885	22968885	Human		name
151782417	CV1381496	single nucleotide variant	NM_002894.3(RBBP8):c.446A>G (p.Gln149Arg)	not provided [RCV001875487]	uncertain significance	18	22982235	22982235	Human		name
151725868	CV1395240	single nucleotide variant	NM_002894.3(RBBP8):c.598G>A (p.Ala200Thr)	not provided [RCV001966578]	uncertain significance	18	22982387	22982387	Human		name
151858829	CV1398354	single nucleotide variant	NM_002894.3(RBBP8):c.683A>G (p.Tyr228Cys)	not provided [RCV002017504]	uncertain significance	18	22984964	22984964	Human		name
151744806	CV1406927	single nucleotide variant	NM_002894.3(RBBP8):c.538G>T (p.Glu180Ter)	not provided [RCV002006191]	uncertain significance	18	22982327	22982327	Human		name
151841075	CV1415475	single nucleotide variant	NM_002894.3(RBBP8):c.985G>A (p.Val329Ile)	Inborn genetic diseases [RCV003167268]\|not provided [RCV001921541]	uncertain significance	18	22992812	22992812	Human	1	name
151831550	CV1459370	single nucleotide variant	NM_002894.3(RBBP8):c.368A>G (p.Glu123Gly)	not provided [RCV002050769]	uncertain significance	18	22975159	22975159	Human		name
151870367	CV1466567	single nucleotide variant	NM_002894.3(RBBP8):c.530G>A (p.Arg177Gln)	not provided [RCV001925124]	uncertain significance	18	22982319	22982319	Human		name
155266656	CV1699224	single nucleotide variant	NM_002894.3(RBBP8):c.631A>G (p.Thr211Ala)	not provided [RCV002283019]	uncertain significance	18	22984912	22984912	Human		name
155702226	CV1771196	single nucleotide variant	NM_002894.3(RBBP8):c.845T>A (p.Leu282His)	not provided [RCV002295677]	uncertain significance	18	22990974	22990974	Human		name
155941094	CV1910072	single nucleotide variant	NM_002894.3(RBBP8):c.590C>G (p.Ser197Cys)	Inborn genetic diseases [RCV002615639]\|not provided [RCV002599817]	uncertain significance	18	22982379	22982379	Human	1	name
156036588	CV1938462	single nucleotide variant	NM_002894.3(RBBP8):c.457C>G (p.Leu153Val)	Inborn genetic diseases [RCV002845770]\|not provided [RCV003111696]	uncertain significance	18	22982246	22982246	Human	1	name
155924713	CV1987711	single nucleotide variant	NM_002894.3(RBBP8):c.875A>T (p.Lys292Ile)	not provided [RCV002614717]	uncertain significance	18	22991004	22991004	Human		name
156190774	CV2066373	deletion	NM_002894.3(RBBP8):c.2554del (p.Trp852fs)	not provided [RCV002828601]	uncertain significance	18	23022224	23022224	Human		name
10403525	CV208437	single nucleotide variant	NM_002894.3(RBBP8):c.553C>G (p.Arg185Gly)	not specified [RCV000192757]	uncertain significance	18	22982342	22982342	Human		name
10404088	CV208438	single nucleotide variant	NM_002894.3(RBBP8):c.592G>A (p.Val198Met)	not provided [RCV001799630]\|not specified [RCV000194155]	uncertain significance	18	22982381	22982381	Human		name
10404335	CV208439	single nucleotide variant	NM_002894.3(RBBP8):c.871A>G (p.Lys291Glu)	not provided [RCV001853105]\|not specified [RCV000194822]	uncertain significance	18	22991000	22991000	Human		name
10403555	CV208440	single nucleotide variant	NM_002894.3(RBBP8):c.946C>T (p.Pro316Ser)	not specified [RCV000192829]	uncertain significance	18	22992773	22992773	Human		name
156378517	CV2117762	single nucleotide variant	NM_002894.3(RBBP8):c.344A>G (p.Lys115Arg)	not provided [RCV002942953]	uncertain significance	18	22968901	22968901	Human		name
156389191	CV2122286	single nucleotide variant	NM_002894.3(RBBP8):c.800A>G (p.Glu267Gly)	not provided [RCV002943727]	uncertain significance	18	22989311	22989311	Human		name
156038298	CV2143315	single nucleotide variant	NM_002894.3(RBBP8):c.517G>A (p.Val173Ile)	Inborn genetic diseases [RCV003250693]\|not provided [RCV002999418]	likely benign\|uncertain significance	18	22982306	22982306	Human	1	name
156325952	CV2209506	single nucleotide variant	NM_002894.3(RBBP8):c.425T>C (p.Ile142Thr)	Inborn genetic diseases [RCV002717412]	uncertain significance	18	22975216	22975216	Human	1	name
156315677	CV2250807	single nucleotide variant	NM_002894.3(RBBP8):c.971G>A (p.Arg324Gln)	Inborn genetic diseases [RCV002809489]	uncertain significance	18	22992798	22992798	Human	1	name
155939689	CV2293955	single nucleotide variant	NM_002894.3(RBBP8):c.900A>C (p.Arg300Ser)	Inborn genetic diseases [RCV002879473]	uncertain significance	18	22991029	22991029	Human	1	name
156074429	CV2376971	single nucleotide variant	NM_002894.3(RBBP8):c.889G>A (p.Glu297Lys)	Inborn genetic diseases [RCV002694151]	uncertain significance	18	22991018	22991018	Human	1	name
156346266	CV2377979	single nucleotide variant	NM_002894.3(RBBP8):c.331C>A (p.Gln111Lys)	Inborn genetic diseases [RCV002719749]	uncertain significance	18	22968888	22968888	Human	1	name
401732495	CV2691024	single nucleotide variant	NM_002894.3(RBBP8):c.596G>A (p.Cys199Tyr)	Inborn genetic diseases [RCV003290198]	uncertain significance	18	22982385	22982385	Human	1	name
401717709	CV2710659	single nucleotide variant	NM_002894.3(RBBP8):c.547C>T (p.His183Tyr)	Inborn genetic diseases [RCV003242812]	uncertain significance	18	22982336	22982336	Human	1	name
401919323	CV2794858	deletion	NM_002894.3(RBBP8):c.1486del (p.Arg496fs)	not specified [RCV003388533]	uncertain significance	18	22993313	22993313	Human		name
405240741	CV2973908	single nucleotide variant	NM_002894.3(RBBP8):c.772G>T (p.Ala258Ser)	not provided [RCV003683954]	uncertain significance	18	22989283	22989283	Human		name
405031493	CV3077453	single nucleotide variant	NM_002894.3(RBBP8):c.355G>A (p.Glu119Lys)	not provided [RCV003739125]	uncertain significance	18	22968912	22968912	Human		name
405669731	CV3308729	single nucleotide variant	NM_002894.3(RBBP8):c.620C>G (p.Ser207Cys)	Inborn genetic diseases [RCV004441010]	uncertain significance	18	22984901	22984901	Human	1	name
405669736	CV3308730	single nucleotide variant	NM_002894.3(RBBP8):c.745T>A (p.Ser249Thr)	Inborn genetic diseases [RCV004441011]	uncertain significance	18	22989256	22989256	Human	1	name
11626867	CV346658	single nucleotide variant	NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala)	Jawad syndrome [RCV002487437]\|not provided [RCV000903562]	benign\|likely benign	18	22989247	22989247	Human	1	name
407467484	CV3468790	single nucleotide variant	NM_002894.3(RBBP8):c.367G>C (p.Glu123Gln)	Inborn genetic diseases [RCV004660733]	uncertain significance	18	22975158	22975158	Human	1	name
597708175	CV3589622	single nucleotide variant	NM_002894.3(RBBP8):c.880C>G (p.Pro294Ala)	Inborn genetic diseases [RCV004957638]	uncertain significance	18	22991009	22991009	Human	1	name
597708208	CV3589627	single nucleotide variant	NM_002894.3(RBBP8):c.943A>T (p.Thr315Ser)	Inborn genetic diseases [RCV004957643]	uncertain significance	18	22992770	22992770	Human	1	name
597932942	CV3812807	single nucleotide variant	NM_002894.3(RBBP8):c.898A>G (p.Arg300Gly)	not provided [RCV005157340]	uncertain significance	18	22991027	22991027	Human		name
597950522	CV3815155	single nucleotide variant	NM_002894.3(RBBP8):c.835G>A (p.Gly279Ser)	not provided [RCV005161105]	uncertain significance	18	22990964	22990964	Human		name
598186162	CV3902444	single nucleotide variant	NM_002894.3(RBBP8):c.550G>A (p.Val184Ile)	Inborn genetic diseases [RCV005266036]	uncertain significance	18	22982339	22982339	Human	1	name
598186165	CV3902445	single nucleotide variant	NM_002894.3(RBBP8):c.843G>T (p.Glu281Asp)	Inborn genetic diseases [RCV005266037]	uncertain significance	18	22990972	22990972	Human	1	name
598186172	CV3902446	single nucleotide variant	NM_002894.3(RBBP8):c.440A>T (p.Gln147Leu)	Inborn genetic diseases [RCV005266038]	uncertain significance	18	22982229	22982229	Human	1	name
598186192	CV3902449	single nucleotide variant	NM_002894.3(RBBP8):c.946C>A (p.Pro316Thr)	Inborn genetic diseases [RCV005266041]	uncertain significance	18	22992773	22992773	Human	1	name
598186196	CV3902450	single nucleotide variant	NM_002894.3(RBBP8):c.678C>G (p.Asp226Glu)	Inborn genetic diseases [RCV005266042]	uncertain significance	18	22984959	22984959	Human	1	name
598186217	CV3902453	single nucleotide variant	NM_002894.3(RBBP8):c.617T>C (p.Val206Ala)	Inborn genetic diseases [RCV005266045]	uncertain significance	18	22984898	22984898	Human	1	name
13214498	CV430047	single nucleotide variant	NM_002894.3(RBBP8):c.541A>T (p.Asn181Tyr)	not specified [RCV000501340]	uncertain significance	18	22982330	22982330	Human		name
14693145	CV620617	duplication	NM_002894.3(RBBP8):c.1071dup (p.His358fs)	not provided [RCV001873174]	uncertain significance	18	22992889	22992890	Human		name
126726843	CV1018417	single nucleotide variant	NM_002894.3(RBBP8):c.2435C>T (p.Thr812Met)	Inborn genetic diseases [RCV002546539]\|Jawad syndrome [RCV001332197]\|not provided [RCV003738045]	uncertain significance	18	23016905	23016905	Human	2	name
126740425	CV1021738	single nucleotide variant	NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys)	Jawad syndrome [RCV001335994]\|Jawad syndrome [RCV002486342]\|not provided [RCV001865841]\|not specified [RCV001820030]	uncertain significance	18	23001588	23001588	Human	1	name
151872617	CV1339686	single nucleotide variant	NM_002894.3(RBBP8):c.1656G>T (p.Glu552Asp)	not provided [RCV002035871]	uncertain significance	18	22993483	22993483	Human		name
151877488	CV1342237	single nucleotide variant	NM_002894.3(RBBP8):c.1976C>T (p.Pro659Leu)	Inborn genetic diseases [RCV004044505]\|not provided [RCV001961224]	uncertain significance	18	22996410	22996410	Human	1	name
151851507	CV1349594	single nucleotide variant	NM_002894.3(RBBP8):c.2465A>T (p.Asp822Val)	not provided [RCV001958056]	uncertain significance	18	23022139	23022139	Human		name
151747427	CV1352943	single nucleotide variant	NM_002894.3(RBBP8):c.1370A>C (p.Glu457Ala)	not provided [RCV001912593]	uncertain significance	18	22993197	22993197	Human		name
8660499	CV135548	single nucleotide variant	NM_002894.3(RBBP8):c.1071A>C (p.Lys357Asn)	RBBP8-related disorder [RCV004529980]\|not provided [RCV000440904]\|not specified [RCV000118130]	benign\|likely benign	18	22992898	22992898	Human	1	name , trait , alternate_id
8660500	CV135549	single nucleotide variant	NM_002894.3(RBBP8):c.1367A>G (p.His456Arg)	RBBP8-related disorder [RCV004529981]\|not provided [RCV000118131]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	22993194	22993194	Human	1	name , trait , alternate_id
8660502	CV135551	single nucleotide variant	NM_002894.3(RBBP8):c.1766G>A (p.Arg589His)	RBBP8-related disorder [RCV004529982]\|not provided [RCV000885095]\|not specified [RCV000118133]	benign	18	22993593	22993593	Human	1	name , trait , alternate_id
8657660	CV135552	single nucleotide variant	NM_002894.3(RBBP8):c.1865G>A (p.Gly622Glu)	not provided [RCV000118134]	uncertain significance	18	22993773	22993773	Human		name
151852336	CV1357138	single nucleotide variant	NM_002894.3(RBBP8):c.1328G>A (p.Arg443Gln)	Inborn genetic diseases [RCV004039669]\|not provided [RCV001904263]	uncertain significance	18	22993155	22993155	Human	1	name
151722702	CV1361783	single nucleotide variant	NM_002894.3(RBBP8):c.1243T>A (p.Ser415Thr)	Inborn genetic diseases [RCV004955826]\|Jawad syndrome [RCV005023440]\|not provided [RCV001945139]	uncertain significance	18	22993070	22993070	Human	2	name
151866061	CV1381265	single nucleotide variant	NM_002894.3(RBBP8):c.1453T>C (p.Cys485Arg)	not provided [RCV001905896]	uncertain significance	18	22993280	22993280	Human		name
151838493	CV1383259	single nucleotide variant	NM_002894.3(RBBP8):c.1055A>C (p.Gln352Pro)	not provided [RCV001921249]	uncertain significance	18	22992882	22992882	Human		name
151874233	CV1388132	single nucleotide variant	NM_002894.3(RBBP8):c.1063A>G (p.Lys355Glu)	not provided [RCV001981693]	uncertain significance	18	22992890	22992890	Human		name
151747336	CV1399230	single nucleotide variant	NM_002894.3(RBBP8):c.1504C>T (p.Arg502Cys)	Inborn genetic diseases [RCV004955751]\|not provided [RCV001927125]	uncertain significance	18	22993331	22993331	Human	1	name
151667717	CV1414474	single nucleotide variant	NM_002894.3(RBBP8):c.2148A>T (p.Glu716Asp)	not provided [RCV001870646]	uncertain significance	18	23001590	23001590	Human		name
151864571	CV1416538	single nucleotide variant	NM_002894.3(RBBP8):c.2620C>G (p.Pro874Ala)	not provided [RCV001997570]	uncertain significance	18	23026166	23026166	Human		name
151892749	CV1419128	single nucleotide variant	NM_002894.3(RBBP8):c.2468T>C (p.Met823Thr)	not provided [RCV001944443]	uncertain significance	18	23022142	23022142	Human		name
151806234	CV1430040	single nucleotide variant	NM_002894.3(RBBP8):c.2629C>T (p.Arg877Cys)	not provided [RCV001974361]	uncertain significance	18	23026175	23026175	Human		name
151804622	CV1430711	single nucleotide variant	NM_002894.3(RBBP8):c.2656G>C (p.Ala886Pro)	not provided [RCV001899386]	uncertain significance	18	23026202	23026202	Human		name
151841129	CV1463063	single nucleotide variant	NM_002894.3(RBBP8):c.1553A>G (p.Gln518Arg)	not provided [RCV002031831]	uncertain significance	18	22993380	22993380	Human		name
151851282	CV1465120	single nucleotide variant	NM_002894.3(RBBP8):c.1745C>T (p.Ala582Val)	not provided [RCV001995993]	uncertain significance	18	22993572	22993572	Human		name
151822469	CV1466106	single nucleotide variant	NM_002894.3(RBBP8):c.2165A>C (p.Asp722Ala)	not provided [RCV001879346]	uncertain significance	18	23001607	23001607	Human		name
151792607	CV1471268	single nucleotide variant	NM_002894.3(RBBP8):c.1147G>A (p.Ala383Thr)	not provided [RCV001931564]	uncertain significance	18	22992974	22992974	Human		name
151891030	CV1473227	single nucleotide variant	NM_002894.3(RBBP8):c.2498C>A (p.Ala833Asp)	Inborn genetic diseases [RCV004041103]\|not provided [RCV001888576]	uncertain significance	18	23022172	23022172	Human	1	name
151753318	CV1480166	single nucleotide variant	NM_002894.3(RBBP8):c.1361G>T (p.Ser454Ile)	not provided [RCV001927743]	uncertain significance	18	22993188	22993188	Human		name
151726523	CV1482283	single nucleotide variant	NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro)	Inborn genetic diseases [RCV002548814]\|Jawad syndrome [RCV002486719]\|not provided [RCV002020843]	uncertain significance	18	22993836	22993836	Human	2	name
151865779	CV1495186	single nucleotide variant	NM_002894.3(RBBP8):c.1807A>G (p.Ile603Val)	not provided [RCV001980698]	uncertain significance	18	22993634	22993634	Human		name
151873204	CV1499487	single nucleotide variant	NM_002894.3(RBBP8):c.1445A>G (p.Asn482Ser)	not provided [RCV001885538]	uncertain significance	18	22993272	22993272	Human		name
151804351	CV1503318	single nucleotide variant	NM_002894.3(RBBP8):c.2024C>T (p.Thr675Ile)	Jawad syndrome [RCV004728982]\|not provided [RCV002011853]	likely benign\|uncertain significance	18	22996458	22996458	Human	1	name
151867901	CV1516545	single nucleotide variant	NM_002894.3(RBBP8):c.2203G>A (p.Glu735Lys)	not provided [RCV001980930]	uncertain significance	18	23001645	23001645	Human		name
152979388	CV1675529	single nucleotide variant	NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter)	Jawad syndrome [RCV002244119]	likely pathogenic	18	22997639	22997639	Human	1	name
155730009	CV1780712	single nucleotide variant	NM_002894.3(RBBP8):c.2474C>T (p.Ala825Val)	RBBP8-related disorder [RCV002308497]	likely pathogenic	18	23022148	23022148	Human	1	name , trait , alternate_id
156227984	CV1896522	single nucleotide variant	NM_002894.3(RBBP8):c.2254G>C (p.Glu752Gln)	not provided [RCV003085251]	uncertain significance	18	23001696	23001696	Human		name
156300916	CV1933475	single nucleotide variant	NM_002894.3(RBBP8):c.2512C>T (p.His838Tyr)	Inborn genetic diseases [RCV002629241]\|not provided [RCV002629240]	uncertain significance	18	23022186	23022186	Human	1	name
156301580	CV1955602	single nucleotide variant	NM_002894.3(RBBP8):c.1940A>T (p.Asp647Val)	not provided [RCV002578250]	uncertain significance	18	22996374	22996374	Human		name
156306566	CV1966486	single nucleotide variant	NM_002894.3(RBBP8):c.2563G>C (p.Gly855Arg)	not provided [RCV002578476]	uncertain significance	18	23022237	23022237	Human		name
156013536	CV1986136	single nucleotide variant	NM_002894.3(RBBP8):c.2225A>G (p.Asp742Gly)	not provided [RCV002636346]	uncertain significance	18	23001667	23001667	Human		name
156390216	CV1990049	single nucleotide variant	NM_002894.3(RBBP8):c.1700G>C (p.Cys567Ser)	Inborn genetic diseases [RCV002604602]\|not provided [RCV002604601]	likely benign\|uncertain significance	18	22993527	22993527	Human	1	name
156127624	CV1993104	single nucleotide variant	NM_002894.3(RBBP8):c.1925T>C (p.Leu642Pro)	not provided [RCV002623187]	uncertain significance	18	22993833	22993833	Human		name
156371869	CV1993546	single nucleotide variant	NM_002894.3(RBBP8):c.1612G>C (p.Ala538Pro)	not provided [RCV002652965]	uncertain significance	18	22993439	22993439	Human		name
156210063	CV2000906	single nucleotide variant	NM_002894.3(RBBP8):c.2576C>G (p.Thr859Ser)	not provided [RCV002666810]	uncertain significance	18	23022250	23022250	Human		name
156358467	CV2006813	single nucleotide variant	NM_002894.3(RBBP8):c.1369G>A (p.Glu457Lys)	not provided [RCV002676085]	uncertain significance	18	22993196	22993196	Human		name
156127765	CV2031412	single nucleotide variant	NM_002894.3(RBBP8):c.1815T>A (p.Ser605Arg)	not provided [RCV002740448]	uncertain significance	18	22993723	22993723	Human		name
155932470	CV2035153	single nucleotide variant	NM_002894.3(RBBP8):c.1687C>G (p.Pro563Ala)	not provided [RCV002751237]	uncertain significance	18	22993514	22993514	Human		name
155934348	CV2035280	single nucleotide variant	NM_002894.3(RBBP8):c.1958T>C (p.Ile653Thr)	Inborn genetic diseases [RCV004958749]\|not provided [RCV002751341]	uncertain significance	18	22996392	22996392	Human	1	name
156127365	CV2036396	single nucleotide variant	NM_002894.3(RBBP8):c.2153G>C (p.Arg718Thr)	not provided [RCV002786033]	uncertain significance	18	23001595	23001595	Human		name
156231293	CV2039719	single nucleotide variant	NM_002894.3(RBBP8):c.1505G>A (p.Arg502His)	not provided [RCV002805324]	uncertain significance	18	22993332	22993332	Human		name
156290446	CV2068826	single nucleotide variant	NM_002894.3(RBBP8):c.2692T>A (p.Ter898Lys)	not provided [RCV002856729]	uncertain significance	18	23026238	23026238	Human		name
8558953	CV20863	single nucleotide variant	NM_002894.3(RBBP8):c.1009A>G (p.Lys337Glu)	Carcinoma of pancreas [RCV000006180]\|not provided [RCV001851692]	pathogenic\|uncertain significance\|other	18	22992836	22992836	Human	1	name
156130758	CV2114839	single nucleotide variant	NM_002894.3(RBBP8):c.1772G>C (p.Arg591Pro)	not provided [RCV002914543]	uncertain significance	18	22993599	22993599	Human		name
156257640	CV2142279	single nucleotide variant	NM_002894.3(RBBP8):c.2099T>C (p.Leu700Pro)	not provided [RCV002988357]	uncertain significance	18	22997690	22997690	Human		name
156220981	CV2173243	single nucleotide variant	NM_002894.3(RBBP8):c.2080T>A (p.Leu694Met)	not provided [RCV003025192]	uncertain significance	18	22997671	22997671	Human		name
156341049	CV2179826	single nucleotide variant	NM_002894.3(RBBP8):c.1724T>C (p.Leu575Ser)	not provided [RCV003030286]	uncertain significance	18	22993551	22993551	Human		name
156127434	CV2185748	single nucleotide variant	NM_002894.3(RBBP8):c.1705C>T (p.Pro569Ser)	not provided [RCV003055705]	uncertain significance	18	22993532	22993532	Human		name
156402815	CV2189553	single nucleotide variant	NM_002894.3(RBBP8):c.1318T>A (p.Leu440Met)	not provided [RCV003052472]	uncertain significance	18	22993145	22993145	Human		name
156038437	CV2214952	single nucleotide variant	NM_002894.3(RBBP8):c.2042C>G (p.Ser681Ter)	Inborn genetic diseases [RCV002692085]	pathogenic	18	22997633	22997633	Human	1	name
156389199	CV2226118	single nucleotide variant	NM_002894.3(RBBP8):c.1103G>A (p.Cys368Tyr)	Inborn genetic diseases [RCV002724300]	uncertain significance	18	22992930	22992930	Human	1	name
156088253	CV2241385	single nucleotide variant	NM_002894.3(RBBP8):c.2614C>G (p.Leu872Val)	Inborn genetic diseases [RCV002738323]	uncertain significance	18	23026160	23026160	Human	1	name
156196975	CV2293516	single nucleotide variant	NM_002894.3(RBBP8):c.2180T>A (p.Met727Lys)	Inborn genetic diseases [RCV002874584]	uncertain significance	18	23001622	23001622	Human	1	name
156074492	CV2321677	single nucleotide variant	NM_002894.3(RBBP8):c.2534C>G (p.Pro845Arg)	Inborn genetic diseases [RCV002925806]	uncertain significance	18	23022208	23022208	Human	1	name
156308521	CV2332359	single nucleotide variant	NM_002894.3(RBBP8):c.2003T>G (p.Met668Arg)	Inborn genetic diseases [RCV002937017]	uncertain significance	18	22996437	22996437	Human	1	name
155917411	CV2362294	single nucleotide variant	NM_002894.3(RBBP8):c.2456A>T (p.Tyr819Phe)	Inborn genetic diseases [RCV003012794]	uncertain significance	18	23022130	23022130	Human	1	name
11350998	CV236900	single nucleotide variant	NM_002894.3(RBBP8):c.1771C>T (p.Arg591Cys)	Inborn genetic diseases [RCV004020715]\|not provided [RCV000224760]	uncertain significance	18	22993598	22993598	Human	1	name
156269127	CV2372169	single nucleotide variant	NM_002894.3(RBBP8):c.1223T>G (p.Ile408Arg)	Inborn genetic diseases [RCV002703502]	uncertain significance	18	22993050	22993050	Human	1	name
329401737	CV2457352	single nucleotide variant	NM_002894.3(RBBP8):c.2221G>A (p.Ala741Thr)	Inborn genetic diseases [RCV003198750]	uncertain significance	18	23001663	23001663	Human	1	name
401857809	CV2758968	single nucleotide variant	NM_002894.3(RBBP8):c.1364A>G (p.Glu455Gly)	Inborn genetic diseases [RCV003341280]	uncertain significance	18	22993191	22993191	Human	1	name
401893488	CV2763489	single nucleotide variant	NM_002894.3(RBBP8):c.2248G>A (p.Glu750Lys)	Inborn genetic diseases [RCV003370727]	uncertain significance	18	23001690	23001690	Human	1	name
401906685	CV2818253	single nucleotide variant	NM_002894.3(RBBP8):c.2481A>C (p.Glu827Asp)	not provided [RCV003421609]	uncertain significance	18	23022155	23022155	Human		name
404992821	CV2850895	single nucleotide variant	NM_002894.3(RBBP8):c.1487G>A (p.Arg496Gln)	not provided [RCV003491396]	uncertain significance	18	22993314	22993314	Human		name
405123039	CV2885070	single nucleotide variant	NM_002894.3(RBBP8):c.1520A>G (p.Gln507Arg)	not provided [RCV003559277]	uncertain significance	18	22993347	22993347	Human		name
11614232	CV330837	single nucleotide variant	NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln)	Jawad syndrome [RCV001195854]\|Jawad syndrome [RCV005025460]\|not provided [RCV001731599]	uncertain significance	18	23022190	23022190	Human	1	name
405669701	CV3308723	single nucleotide variant	NM_002894.3(RBBP8):c.1622G>A (p.Gly541Asp)	Inborn genetic diseases [RCV004441004]	uncertain significance	18	22993449	22993449	Human	1	name
405669706	CV3308724	single nucleotide variant	NM_002894.3(RBBP8):c.2030A>G (p.Asp677Gly)	Inborn genetic diseases [RCV004441005]	uncertain significance	18	22997621	22997621	Human	1	name
405669711	CV3308725	single nucleotide variant	NM_002894.3(RBBP8):c.2177A>G (p.Asp726Gly)	Inborn genetic diseases [RCV004441006]	uncertain significance	18	23001619	23001619	Human	1	name
405669716	CV3308726	single nucleotide variant	NM_002894.3(RBBP8):c.2188C>T (p.Arg730Trp)	Inborn genetic diseases [RCV004441007]	uncertain significance	18	23001630	23001630	Human	1	name
405669726	CV3308728	single nucleotide variant	NM_002894.3(RBBP8):c.2613T>A (p.Asp871Glu)	Inborn genetic diseases [RCV004441009]	uncertain significance	18	23026159	23026159	Human	1	name
11628594	CV346659	single nucleotide variant	NM_002894.3(RBBP8):c.1486C>T (p.Arg496Ter)	RBBP8-related disorder [RCV000305403]	uncertain significance	18	22993313	22993313	Human		name , trait , alternate_id
11628585	CV346673	single nucleotide variant	NM_002894.3(RBBP8):c.2399G>A (p.Arg800Gln)	Inborn genetic diseases [RCV002744708]\|not provided [RCV005099177]	uncertain significance	18	23016869	23016869	Human	1	name
11629795	CV346675	single nucleotide variant	NM_002894.3(RBBP8):c.2630G>A (p.Arg877His)	not provided [RCV001850743]\|not specified [RCV000502999]	uncertain significance	18	23026176	23026176	Human		name
407467471	CV3468786	single nucleotide variant	NM_002894.3(RBBP8):c.2179A>G (p.Met727Val)	Inborn genetic diseases [RCV004660729]	uncertain significance	18	23001621	23001621	Human	1	name
407467481	CV3468789	single nucleotide variant	NM_002894.3(RBBP8):c.1874T>C (p.Leu625Pro)	Inborn genetic diseases [RCV004660732]	uncertain significance	18	22993782	22993782	Human	1	name
11627742	CV347943	single nucleotide variant	NM_002894.3(RBBP8):c.1967G>A (p.Ser656Asn)	not provided [RCV002036280]	uncertain significance	18	22996401	22996401	Human		name
408386671	CV3518483	single nucleotide variant	NM_002894.3(RBBP8):c.1379G>A (p.Cys460Tyr)	not provided [RCV004760801]	uncertain significance	18	22993206	22993206	Human		name
596928486	CV3540425	single nucleotide variant	NM_002894.3(RBBP8):c.1812G>T (p.Lys604Asn)	Jawad syndrome [RCV004794752]	uncertain significance	18	22993639	22993639	Human	1	name
597708159	CV3589619	single nucleotide variant	NM_002894.3(RBBP8):c.1423A>G (p.Met475Val)	Inborn genetic diseases [RCV004957636]	uncertain significance	18	22993250	22993250	Human	1	name
597708168	CV3589620	single nucleotide variant	NM_002894.3(RBBP8):c.2483G>A (p.Arg828Lys)	Inborn genetic diseases [RCV004957637]	uncertain significance	18	23022157	23022157	Human	1	name
597708181	CV3589623	single nucleotide variant	NM_002894.3(RBBP8):c.1910G>A (p.Gly637Asp)	Inborn genetic diseases [RCV004957639]	uncertain significance	18	22993818	22993818	Human	1	name
597708187	CV3589624	single nucleotide variant	NM_002894.3(RBBP8):c.2348G>C (p.Gly783Ala)	Inborn genetic diseases [RCV004957640]	uncertain significance	18	23006423	23006423	Human	1	name
597708194	CV3589625	single nucleotide variant	NM_002894.3(RBBP8):c.2438G>T (p.Cys813Phe)	Inborn genetic diseases [RCV004957641]	uncertain significance	18	23016908	23016908	Human	1	name
597708202	CV3589626	single nucleotide variant	NM_002894.3(RBBP8):c.2656G>A (p.Ala886Thr)	Inborn genetic diseases [RCV004957642]	uncertain significance	18	23026202	23026202	Human	1	name
597708215	CV3589628	single nucleotide variant	NM_002894.3(RBBP8):c.1456G>A (p.Val486Met)	Inborn genetic diseases [RCV004957644]	uncertain significance	18	22993283	22993283	Human	1	name
597708222	CV3589629	single nucleotide variant	NM_002894.3(RBBP8):c.1076T>A (p.Leu359Gln)	Inborn genetic diseases [RCV004957645]	uncertain significance	18	22992903	22992903	Human	1	name
597645445	CV3712487	single nucleotide variant	NM_002894.3(RBBP8):c.2329G>A (p.Val777Met)	Jawad syndrome [RCV005026177]	uncertain significance	18	23006404	23006404	Human	1	name
597857914	CV3748211	single nucleotide variant	NM_002894.3(RBBP8):c.1699T>A (p.Cys567Ser)	not provided [RCV005067033]	uncertain significance	18	22993526	22993526	Human		name
597975816	CV3795943	single nucleotide variant	NM_002894.3(RBBP8):c.2539A>G (p.Thr847Ala)	not provided [RCV005144774]	uncertain significance	18	23022213	23022213	Human		name
597953066	CV3815903	single nucleotide variant	NM_002894.3(RBBP8):c.1598C>T (p.Ser533Phe)	not provided [RCV005161655]	uncertain significance	18	22993425	22993425	Human		name
597841308	CV3825496	single nucleotide variant	NM_002894.3(RBBP8):c.1739A>T (p.Glu580Val)	not provided [RCV005172179]	uncertain significance	18	22993566	22993566	Human		name
597972254	CV3829540	single nucleotide variant	NM_002894.3(RBBP8):c.2294G>T (p.Gly765Val)	not provided [RCV005167327]	uncertain significance	18	23006369	23006369	Human		name
597946706	CV3841716	single nucleotide variant	NM_002894.3(RBBP8):c.1834A>G (p.Ile612Val)	not provided [RCV005189150]	uncertain significance	18	22993742	22993742	Human		name
598186156	CV3902443	single nucleotide variant	NM_002894.3(RBBP8):c.2398C>T (p.Arg800Trp)	Inborn genetic diseases [RCV005266035]	uncertain significance	18	23016868	23016868	Human	1	name
598186186	CV3902448	single nucleotide variant	NM_002894.3(RBBP8):c.2165A>G (p.Asp722Gly)	Inborn genetic diseases [RCV005266040]	uncertain significance	18	23001607	23001607	Human	1	name
598186203	CV3902451	single nucleotide variant	NM_002894.3(RBBP8):c.1235T>C (p.Ile412Thr)	Inborn genetic diseases [RCV005266043]	uncertain significance	18	22993062	22993062	Human	1	name
598186211	CV3902452	single nucleotide variant	NM_002894.3(RBBP8):c.1883T>G (p.Val628Gly)	Inborn genetic diseases [RCV005266044]	uncertain significance	18	22993791	22993791	Human	1	name
12893801	CV410325	single nucleotide variant	NM_002894.3(RBBP8):c.2515C>T (p.Arg839Ter)	not provided [RCV000480286]	likely pathogenic\|conflicting interpretations of pathogenicity	18	23022189	23022189	Human		name
13213248	CV430049	single nucleotide variant	NM_002894.3(RBBP8):c.2257G>A (p.Glu753Lys)	not provided [RCV001857157]\|not specified [RCV000499702]	uncertain significance	18	23001699	23001699	Human		name
13214391	CV430050	single nucleotide variant	NM_002894.3(RBBP8):c.2383C>G (p.His795Asp)	not specified [RCV000501208]	uncertain significance	18	23016853	23016853	Human		name
13213062	CV430051	single nucleotide variant	NM_002894.3(RBBP8):c.2530C>G (p.Pro844Ala)	Inborn genetic diseases [RCV004955557]\|not specified [RCV000499568]	uncertain significance	18	23022204	23022204	Human	1	name
13214609	CV430052	single nucleotide variant	NM_002894.3(RBBP8):c.2613T>G (p.Asp871Glu)	Inborn genetic diseases [RCV004023400]\|not specified [RCV000501368]	uncertain significance	18	23026159	23026159	Human	1	name
13477172	CV445940	single nucleotide variant	NM_002894.3(RBBP8):c.2579A>C (p.Gln860Pro)	Inborn genetic diseases [RCV005260150]\|not provided [RCV000520325]	uncertain significance	18	23022253	23022253	Human	1	name
13517848	CV493927	single nucleotide variant	NM_002894.3(RBBP8):c.2074T>G (p.Cys692Gly)	Inborn genetic diseases [RCV002531110]\|not provided [RCV000596867]	uncertain significance	18	22997665	22997665	Human	1	name
13705521	CV536963	single nucleotide variant	NM_002894.3(RBBP8):c.1748T>A (p.Val583Asp)	not provided [RCV000658074]	uncertain significance	18	22993575	22993575	Human		name
13705707	CV536964	single nucleotide variant	NM_002894.3(RBBP8):c.2336C>T (p.Pro779Leu)	not provided [RCV000658287]	uncertain significance	18	23006411	23006411	Human		name
13832214	CV582706	single nucleotide variant	NM_002894.3(RBBP8):c.2692T>C (p.Ter898Gln)	not provided [RCV000722898]	uncertain significance	18	23026238	23026238	Human		name
15127791	CV741310	single nucleotide variant	NM_002894.3(RBBP8):c.1242A>T (p.Glu414Asp)	RBBP8-related disorder [RCV004541861]\|not provided [RCV000897168]	likely benign	18	22993069	22993069	Human	1	name , trait , alternate_id
38597064	CV801922	single nucleotide variant	NM_002894.3(RBBP8):c.2522G>A (p.Arg841His)	Microcephaly [RCV001252883]	uncertain significance	18	23022196	23022196	Human	2	name
597861210	CV3880808	duplication	NM_002894.3(RBBP8):c.1621_1625dup (p.Asn542fs)	RBBP8-related disorder [RCV005229643]	likely pathogenic	18	22993447	22993448	Human	1	name , trait , alternate_id
8568327	CV39366	deletion	NM_002894.3(RBBP8):c.1808_1809del (p.Ile603fs)	Jawad syndrome [RCV000023362]	pathogenic	18	22993634	22993635	Human	1	name
38459462	CV919789	microsatellite	NM_002894.3(RBBP8):c.1457_1458del (p.Val486fs)	Jawad syndrome [RCV001195853]\|not provided [RCV001863096]	likely pathogenic\|uncertain significance	18	22993280	22993281	Human		name
151884567	CV1432562	deletion	NM_002894.3(RBBP8):c.1955_1957del (p.Asn652del)	not provided [RCV002000302]	uncertain significance	18	22996388	22996390	Human		name
151828640	CV1479992	deletion	NM_002894.3(RBBP8):c.1316_1318del (p.Ser439del)	not provided [RCV001901580]	uncertain significance	18	22993141	22993143	Human		name
13215894	CV430048	deletion	NM_002894.3(RBBP8):c.1223_1228del (p.Ile408_Asn409del)	Jawad syndrome [RCV004722839]\|Seckel syndrome 2 [RCV004820854]\|not provided [RCV002524281]\|not specified [RCV000503080]	likely benign\|uncertain significance	18	22993048	22993053	Human	2	name
126740433	CV1021737	deletion	NM_002894.3(RBBP8):c.317_318del (p.Glu105_Phe106insTer)	Jawad syndrome [RCV001335995]	pathogenic	18	22968873	22968874	Human	1	name
156254823	CV2280924	single nucleotide variant	NM_080833.3(RBBP8NL):c.19T>C (p.Ser7Pro)	not specified [RCV004145167]	uncertain significance	20	62419629	62419629	Human		name
156186975	CV2292434	single nucleotide variant	NM_080833.3(RBBP8NL):c.30G>T (p.Arg10Ser)	not specified [RCV004150228]	uncertain significance	20	62419618	62419618	Human		name
155979671	CV2215241	single nucleotide variant	NM_080833.3(RBBP8NL):c.119T>C (p.Ile40Thr)	not specified [RCV004086946]	uncertain significance	20	62417305	62417305	Human		name
155939114	CV2225345	single nucleotide variant	NM_080833.3(RBBP8NL):c.241G>C (p.Glu81Gln)	not specified [RCV004100767]	uncertain significance	20	62416832	62416832	Human		name
156298263	CV2329167	single nucleotide variant	NM_080833.3(RBBP8NL):c.181C>G (p.Leu61Val)	not specified [RCV004173922]	likely benign	20	62417243	62417243	Human		name
155926888	CV2345288	single nucleotide variant	NM_080833.3(RBBP8NL):c.232G>C (p.Val78Leu)	not specified [RCV004196023]	uncertain significance	20	62416841	62416841	Human		name
156070535	CV2354191	single nucleotide variant	NM_080833.3(RBBP8NL):c.152G>A (p.Arg51Gln)	not specified [RCV004206622]	uncertain significance	20	62417272	62417272	Human		name
329375715	CV2468778	single nucleotide variant	NM_080833.3(RBBP8NL):c.110C>T (p.Ala37Val)	not specified [RCV004280096]	uncertain significance	20	62417314	62417314	Human		name
401770711	CV2685855	single nucleotide variant	NM_080833.3(RBBP8NL):c.211G>A (p.Gly71Ser)	not specified [RCV004294839]	uncertain significance	20	62416862	62416862	Human		name
405669746	CV3308732	single nucleotide variant	NM_080833.3(RBBP8NL):c.115A>G (p.Arg39Gly)	not specified [RCV004441013]	uncertain significance	20	62417309	62417309	Human		name
407467497	CV3468795	single nucleotide variant	NM_080833.3(RBBP8NL):c.271G>A (p.Glu91Lys)	not specified [RCV004660736]	uncertain significance	20	62416802	62416802	Human		name
598186221	CV3902454	single nucleotide variant	NM_080833.3(RBBP8NL):c.257G>A (p.Arg86Gln)	not specified [RCV005266046]	uncertain significance	20	62416816	62416816	Human		name
598186273	CV3902462	single nucleotide variant	NM_080833.3(RBBP8NL):c.101G>A (p.Cys34Tyr)	not specified [RCV005266053]	uncertain significance	20	62418426	62418426	Human		name
156308591	CV2249535	single nucleotide variant	NM_080833.3(RBBP8NL):c.427C>G (p.Pro143Ala)	not specified [RCV004120564]	uncertain significance	20	62415905	62415905	Human		name
155907207	CV2302169	single nucleotide variant	NM_080833.3(RBBP8NL):c.428C>T (p.Pro143Leu)	not specified [RCV004159176]	uncertain significance	20	62415904	62415904	Human		name
156219897	CV2393651	single nucleotide variant	NM_080833.3(RBBP8NL):c.637C>T (p.Arg213Cys)	not specified [RCV004231460]	uncertain significance	20	62415278	62415278	Human		name
329368010	CV2442610	single nucleotide variant	NM_080833.3(RBBP8NL):c.811C>T (p.Arg271Trp)	not specified [RCV004264968]	uncertain significance	20	62414540	62414540	Human		name
329367461	CV2456823	single nucleotide variant	NM_080833.3(RBBP8NL):c.589C>T (p.Pro197Ser)	not specified [RCV004270791]	uncertain significance	20	62415616	62415616	Human		name
401766286	CV2679635	single nucleotide variant	NM_080833.3(RBBP8NL):c.298C>T (p.Arg100Cys)	not specified [RCV004282110]	uncertain significance	20	62416775	62416775	Human		name
401750105	CV2704988	single nucleotide variant	NM_080833.3(RBBP8NL):c.953G>A (p.Arg318Gln)	not specified [RCV004309593]	likely benign	20	62414398	62414398	Human		name
401734421	CV2709496	single nucleotide variant	NM_080833.3(RBBP8NL):c.535C>T (p.Arg179Trp)	not specified [RCV004318738]	uncertain significance	20	62415797	62415797	Human		name
401897131	CV2789851	single nucleotide variant	NM_080833.3(RBBP8NL):c.750C>G (p.Ser250Arg)	not specified [RCV004362239]	uncertain significance	20	62415165	62415165	Human		name
401930512	CV2824582	single nucleotide variant	NM_080833.3(RBBP8NL):c.800T>C (p.Leu267Pro)	not provided [RCV003440485]	benign	20	62414551	62414551	Human		name
405669769	CV3308737	single nucleotide variant	NM_080833.3(RBBP8NL):c.314C>T (p.Thr105Ile)	not specified [RCV004441018]	uncertain significance	20	62416236	62416236	Human		name
405669774	CV3308738	single nucleotide variant	NM_080833.3(RBBP8NL):c.328G>C (p.Gly110Arg)	not specified [RCV004441019]	likely benign	20	62416222	62416222	Human		name
405669780	CV3308739	single nucleotide variant	NM_080833.3(RBBP8NL):c.346G>A (p.Glu116Lys)	not specified [RCV004441020]	likely benign	20	62416204	62416204	Human		name
405669783	CV3308740	single nucleotide variant	NM_080833.3(RBBP8NL):c.523G>A (p.Gly175Ser)	not specified [RCV004441021]	uncertain significance	20	62415809	62415809	Human		name
405669788	CV3308741	single nucleotide variant	NM_080833.3(RBBP8NL):c.703G>A (p.Asp235Asn)	not specified [RCV004441022]	uncertain significance	20	62415212	62415212	Human		name
405669794	CV3308742	single nucleotide variant	NM_080833.3(RBBP8NL):c.952C>T (p.Arg318Trp)	not specified [RCV004441023]	uncertain significance	20	62414399	62414399	Human		name
407507293	CV3468796	single nucleotide variant	NM_080833.3(RBBP8NL):c.812G>A (p.Arg271Gln)	not specified [RCV004671672]	uncertain significance	20	62414539	62414539	Human		name
407467509	CV3468799	single nucleotide variant	NM_080833.3(RBBP8NL):c.497A>T (p.His166Leu)	not specified [RCV004660739]	uncertain significance	20	62415835	62415835	Human		name
597784668	CV3589633	single nucleotide variant	NM_080833.3(RBBP8NL):c.880C>T (p.Arg294Cys)	not specified [RCV004854534]	uncertain significance	20	62414471	62414471	Human		name
597707925	CV3589635	single nucleotide variant	NM_080833.3(RBBP8NL):c.371G>A (p.Arg124Gln)	not specified [RCV004860667]	uncertain significance	20	62416179	62416179	Human		name
597784677	CV3589636	single nucleotide variant	NM_080833.3(RBBP8NL):c.395C>T (p.Pro132Leu)	not specified [RCV004854536]	uncertain significance	20	62415937	62415937	Human		name
597784681	CV3589638	single nucleotide variant	NM_080833.3(RBBP8NL):c.319G>A (p.Glu107Lys)	not specified [RCV004854537]	uncertain significance	20	62416231	62416231	Human		name
597707944	CV3589639	single nucleotide variant	NM_080833.3(RBBP8NL):c.719A>G (p.Asn240Ser)	not specified [RCV004860669]	uncertain significance	20	62415196	62415196	Human		name
597707952	CV3589641	single nucleotide variant	NM_080833.3(RBBP8NL):c.535C>G (p.Arg179Gly)	not specified [RCV004860670]	uncertain significance	20	62415797	62415797	Human		name
598186244	CV3902457	single nucleotide variant	NM_080833.3(RBBP8NL):c.473T>C (p.Ile158Thr)	not specified [RCV005266049]	uncertain significance	20	62415859	62415859	Human		name
598186250	CV3902458	single nucleotide variant	NM_080833.3(RBBP8NL):c.839C>T (p.Pro280Leu)	not specified [RCV005266050]	likely benign	20	62414512	62414512	Human		name
598186264	CV3902461	single nucleotide variant	NM_080833.3(RBBP8NL):c.536G>A (p.Arg179Gln)	not specified [RCV005266052]	likely benign	20	62415796	62415796	Human		name
598186296	CV3902465	single nucleotide variant	NM_080833.3(RBBP8NL):c.538G>C (p.Gly180Arg)	not specified [RCV005266056]	uncertain significance	20	62415794	62415794	Human		name
156156718	CV2238543	single nucleotide variant	NM_080833.3(RBBP8NL):c.1666G>A (p.Gly556Ser)	not specified [RCV004107159]	uncertain significance	20	62413410	62413410	Human		name
156065240	CV2272487	single nucleotide variant	NM_080833.3(RBBP8NL):c.1961C>T (p.Pro654Leu)	not specified [RCV004133401]	uncertain significance	20	62410912	62410912	Human		name
156063142	CV2316724	single nucleotide variant	NM_080833.3(RBBP8NL):c.1262G>A (p.Gly421Asp)	not specified [RCV004171948]	uncertain significance	20	62414089	62414089	Human		name
155905836	CV2357194	single nucleotide variant	NM_080833.3(RBBP8NL):c.1265C>T (p.Pro422Leu)	not specified [RCV004206979]	uncertain significance	20	62414086	62414086	Human		name
156345212	CV2382121	single nucleotide variant	NM_080833.3(RBBP8NL):c.1528A>G (p.Met510Val)	not specified [RCV004228083]	likely benign	20	62413823	62413823	Human		name
329391034	CV2447639	single nucleotide variant	NM_080833.3(RBBP8NL):c.1825G>A (p.Gly609Arg)	not specified [RCV004258441]	uncertain significance	20	62412675	62412675	Human		name
329352683	CV2470313	single nucleotide variant	NM_080833.3(RBBP8NL):c.1122G>T (p.Arg374Ser)	not specified [RCV004279707]	uncertain significance	20	62414229	62414229	Human		name
401761223	CV2689070	single nucleotide variant	NM_080833.3(RBBP8NL):c.1109C>T (p.Ala370Val)	not specified [RCV004305841]	likely benign	20	62414242	62414242	Human		name
401758755	CV2694261	single nucleotide variant	NM_080833.3(RBBP8NL):c.1789G>A (p.Gly597Arg)	not specified [RCV004302673]	uncertain significance	20	62412711	62412711	Human		name
401762861	CV2710349	single nucleotide variant	NM_080833.3(RBBP8NL):c.1429C>T (p.Pro477Ser)	not specified [RCV004317516]	uncertain significance	20	62413922	62413922	Human		name
401753258	CV2720689	single nucleotide variant	NM_080833.3(RBBP8NL):c.1234T>C (p.Ser412Pro)	not specified [RCV004328050]	likely benign	20	62414117	62414117	Human		name
401875718	CV2789142	single nucleotide variant	NM_080833.3(RBBP8NL):c.1708T>C (p.Ser570Pro)	not specified [RCV004365193]	uncertain significance	20	62412868	62412868	Human		name
405669751	CV3308733	single nucleotide variant	NM_080833.3(RBBP8NL):c.1205C>T (p.Thr402Ile)	not specified [RCV004441014]	uncertain significance	20	62414146	62414146	Human		name
405669757	CV3308734	single nucleotide variant	NM_080833.3(RBBP8NL):c.1219G>A (p.Ala407Thr)	not specified [RCV004441015]	uncertain significance	20	62414132	62414132	Human		name
405669761	CV3308735	single nucleotide variant	NM_080833.3(RBBP8NL):c.1556C>T (p.Ser519Phe)	not specified [RCV004441016]	uncertain significance	20	62413520	62413520	Human		name
405669765	CV3308736	single nucleotide variant	NM_080833.3(RBBP8NL):c.1787C>A (p.Thr596Asn)	not specified [RCV004441017]	uncertain significance	20	62412713	62412713	Human		name
407467489	CV3468791	single nucleotide variant	NM_080833.3(RBBP8NL):c.1334C>T (p.Ser445Leu)	not specified [RCV004660734]	uncertain significance	20	62414017	62414017	Human		name
407507286	CV3468792	single nucleotide variant	NM_080833.3(RBBP8NL):c.1939A>G (p.Arg647Gly)	not specified [RCV004671670]	uncertain significance	20	62410934	62410934	Human		name
407467492	CV3468793	single nucleotide variant	NM_080833.3(RBBP8NL):c.1489G>A (p.Gly497Arg)	not specified [RCV004660735]	uncertain significance	20	62413862	62413862	Human		name
407507290	CV3468794	single nucleotide variant	NM_080833.3(RBBP8NL):c.1358A>G (p.Gln453Arg)	not specified [RCV004671671]	likely benign	20	62413993	62413993	Human		name
407467501	CV3468797	single nucleotide variant	NM_080833.3(RBBP8NL):c.1393C>T (p.Leu465Phe)	not specified [RCV004660737]	uncertain significance	20	62413958	62413958	Human		name
407467505	CV3468798	single nucleotide variant	NM_080833.3(RBBP8NL):c.1375G>A (p.Ala459Thr)	not specified [RCV004660738]	uncertain significance	20	62413976	62413976	Human		name
407467514	CV3468800	single nucleotide variant	NM_080833.3(RBBP8NL):c.1317C>A (p.Asp439Glu)	not specified [RCV004660740]	uncertain significance	20	62414034	62414034	Human		name
597707914	CV3589632	single nucleotide variant	NM_080833.3(RBBP8NL):c.1171G>C (p.Gly391Arg)	not specified [RCV004860666]	uncertain significance	20	62414180	62414180	Human		name
597784673	CV3589634	single nucleotide variant	NM_080833.3(RBBP8NL):c.1652C>T (p.Pro551Leu)	not specified [RCV004854535]	likely benign	20	62413424	62413424	Human		name
597707934	CV3589637	single nucleotide variant	NM_080833.3(RBBP8NL):c.1201G>A (p.Gly401Arg)	not specified [RCV004860668]	uncertain significance	20	62414150	62414150	Human		name
597784686	CV3589640	single nucleotide variant	NM_080833.3(RBBP8NL):c.1373C>G (p.Pro458Arg)	not specified [RCV004854538]	uncertain significance	20	62413978	62413978	Human		name
597784690	CV3589642	single nucleotide variant	NM_080833.3(RBBP8NL):c.1012G>A (p.Gly338Arg)	not specified [RCV004854539]	uncertain significance	20	62414339	62414339	Human		name
597784694	CV3589643	single nucleotide variant	NM_080833.3(RBBP8NL):c.1580G>A (p.Gly527Asp)	not specified [RCV004854540]	uncertain significance	20	62413496	62413496	Human		name
597784699	CV3589644	single nucleotide variant	NM_080833.3(RBBP8NL):c.1456C>A (p.Arg486Ser)	not specified [RCV004854541]	uncertain significance	20	62413895	62413895	Human		name
598186257	CV3902459	single nucleotide variant	NM_080833.3(RBBP8NL):c.1436C>A (p.Thr479Asn)	not specified [RCV005266051]	uncertain significance	20	62413915	62413915	Human		name
598203653	CV3902460	single nucleotide variant	NM_080833.3(RBBP8NL):c.1824C>G (p.His608Gln)	not specified [RCV005269410]	uncertain significance	20	62412676	62412676	Human		name
598186279	CV3902463	single nucleotide variant	NM_080833.3(RBBP8NL):c.1837C>T (p.Pro613Ser)	not specified [RCV005266054]	uncertain significance	20	62412663	62412663	Human		name
598186287	CV3902464	single nucleotide variant	NM_080833.3(RBBP8NL):c.1423C>T (p.Pro475Ser)	not specified [RCV005266055]	uncertain significance	20	62413928	62413928	Human		name

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