P4hb Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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347 records found for search term P4hb

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150507517	CV1256953	single nucleotide variant	NM_000918.4(P4HB):c.-13A>C	not provided [RCV001678456]	benign	17	81860484	81860484	Human		name
150339627	CV1167704	single nucleotide variant	NM_000918.4(P4HB):c.*217A>C	not provided [RCV001534387]	benign	17	81843795	81843795	Human		name
151735453	CV1440687	single nucleotide variant	NM_000918.4(P4HB):c.353-3T>C	not provided [RCV001911341]	uncertain significance	17	81855589	81855589	Human		name
152079611	CV1557923	single nucleotide variant	NM_000918.4(P4HB):c.146-9C>T	not provided [RCV002170366]	likely benign	17	81859396	81859396	Human		name
152060455	CV1559201	single nucleotide variant	NM_000918.4(P4HB):c.729+4C>T	not provided [RCV002167938]	benign	17	81847239	81847239	Human		name
156344144	CV1907587	single nucleotide variant	NM_000918.4(P4HB):c.145+9C>G	not provided [RCV003090537]	likely benign	17	81860318	81860318	Human		name
405216133	CV2876281	single nucleotide variant	NM_000918.4(P4HB):c.146-8G>A	not provided [RCV003553219]	likely benign	17	81859395	81859395	Human		name
405124751	CV2961599	single nucleotide variant	NM_000918.4(P4HB):c.486+9C>T	not provided [RCV003667757]	likely benign	17	81855444	81855444	Human		name
405029662	CV3012535	single nucleotide variant	NM_000918.4(P4HB):c.730-1G>A	not provided [RCV003695471]	uncertain significance	17	81847073	81847073	Human		name
405221114	CV3032284	single nucleotide variant	NM_000918.4(P4HB):c.729+4C>A	not provided [RCV003709980]	uncertain significance	17	81847239	81847239	Human		name
597940943	CV3757310	single nucleotide variant	NM_000918.4(P4HB):c.625-6C>T	not provided [RCV005077496]	likely benign	17	81847353	81847353	Human		name
597911623	CV3826158	single nucleotide variant	NM_000918.4(P4HB):c.487-9C>T	not provided [RCV005182894]	likely benign	17	81855288	81855288	Human		name
597910097	CV3830137	single nucleotide variant	NM_000918.4(P4HB):c.145+9C>T	not provided [RCV005182707]	likely benign	17	81860318	81860318	Human		name
598127919	CV3882963	single nucleotide variant	NM_000918.4(P4HB):c.624+3G>T	Cole-Carpenter syndrome 1 [RCV005234496]	uncertain significance	17	81855139	81855139	Human	1	name
15199417	CV776458	single nucleotide variant	NM_000918.4(P4HB):c.856-8T>A	P4HB-related disorder [RCV003925817]\|not provided [RCV000935099]	benign\|likely benign	17	81846637	81846637	Human	1	name , trait , alternate_id
150406223	CV1178226	single nucleotide variant	NM_000918.4(P4HB):c.353-60C>T	not provided [RCV001545202]	likely benign	17	81855646	81855646	Human		name
150446949	CV1201805	single nucleotide variant	NM_000918.4(P4HB):c.487-73G>A	not provided [RCV001584673]	likely benign	17	81855352	81855352	Human		name
150494775	CV1204890	single nucleotide variant	NM_000918.4(P4HB):c.145+73C>A	not provided [RCV001593382]	likely benign	17	81860254	81860254	Human		name
150502495	CV1212247	single nucleotide variant	NM_000918.4(P4HB):c.146-61G>A	not provided [RCV001595120]	benign	17	81859448	81859448	Human		name
150476181	CV1216774	single nucleotide variant	NM_000918.4(P4HB):c.145+44A>G	not provided [RCV001616067]	benign	17	81860283	81860283	Human		name
150440878	CV1220230	single nucleotide variant	NM_000918.4(P4HB):c.352+52C>T	not provided [RCV001610213]	benign	17	81859129	81859129	Human		name
150480093	CV1221902	single nucleotide variant	NM_000918.4(P4HB):c.730-65A>G	not provided [RCV001616698]	benign	17	81847137	81847137	Human		name
150510921	CV1229295	single nucleotide variant	NM_000918.4(P4HB):c.624+94C>T	not provided [RCV001637223]	benign	17	81855048	81855048	Human		name
150430685	CV1231002	single nucleotide variant	NM_000918.4(P4HB):c.1359+4C>T	not provided [RCV001641551]	benign	17	81845557	81845557	Human		name
150501796	CV1256401	single nucleotide variant	NM_000918.4(P4HB):c.730-55T>C	not provided [RCV001677025]	benign	17	81847127	81847127	Human		name
150453791	CV1260567	single nucleotide variant	NM_000918.4(P4HB):c.1447-9G>A	not provided [RCV001681059]	benign	17	81844101	81844101	Human		name
150440995	CV1265490	single nucleotide variant	NM_000918.4(P4HB):c.486+25T>C	not provided [RCV001679193]	benign	17	81855428	81855428	Human		name
152132687	CV1545197	single nucleotide variant	NM_000918.4(P4HB):c.855+19T>C	not provided [RCV002119294]	likely benign	17	81846928	81846928	Human		name
152138458	CV1565066	single nucleotide variant	NM_000918.4(P4HB):c.352+17G>A	not provided [RCV002083835]	likely benign	17	81859164	81859164	Human		name
152072753	CV1574506	single nucleotide variant	NM_000918.4(P4HB):c.487-14C>T	not provided [RCV002192003]	likely benign	17	81855293	81855293	Human		name
152048641	CV1585416	single nucleotide variant	NM_000918.4(P4HB):c.625-13T>C	not provided [RCV002145389]	benign	17	81847360	81847360	Human		name
152113137	CV1585908	single nucleotide variant	NM_000918.4(P4HB):c.486+19C>T	not provided [RCV002153320]	likely benign	17	81855434	81855434	Human		name
152066712	CV1636608	deletion	NM_000918.4(P4HB):c.146-16del	not provided [RCV002110890]	benign	17	81859403	81859403	Human		name
156418440	CV1911111	single nucleotide variant	NM_000918.4(P4HB):c.625-10C>T	not provided [RCV002611631]	likely benign	17	81847357	81847357	Human		name
156235197	CV1952747	single nucleotide variant	NM_000918.4(P4HB):c.487-12C>T	not provided [RCV002576026]	likely benign	17	81855291	81855291	Human		name
156204235	CV1980270	single nucleotide variant	NM_000918.4(P4HB):c.145+19G>C	not provided [RCV002625838]	likely benign	17	81860308	81860308	Human		name
156414654	CV1982914	single nucleotide variant	NM_000918.4(P4HB):c.624+12C>T	not provided [RCV002609302]	likely benign	17	81855130	81855130	Human		name
155915422	CV2022004	single nucleotide variant	NM_000918.4(P4HB):c.625-11T>G	not provided [RCV002727104]	likely benign	17	81847358	81847358	Human		name
156330888	CV2061333	single nucleotide variant	NM_000918.4(P4HB):c.487-13C>T	not provided [RCV002810671]	likely benign	17	81855292	81855292	Human		name
156031307	CV2105690	single nucleotide variant	NM_000918.4(P4HB):c.1056+9G>A	not provided [RCV002910078]	likely benign	17	81846420	81846420	Human		name
402476649	CV2857198	single nucleotide variant	NM_000918.4(P4HB):c.624+18G>A	not provided [RCV003543403]	likely benign	17	81855124	81855124	Human		name
405044982	CV2859673	single nucleotide variant	NM_000918.4(P4HB):c.487-18T>C	not provided [RCV003579293]	likely benign	17	81855297	81855297	Human		name
405198759	CV2901075	single nucleotide variant	NM_000918.4(P4HB):c.729+13T>G	not provided [RCV003565703]	likely benign	17	81847230	81847230	Human		name
405198768	CV2901076	single nucleotide variant	NM_000918.4(P4HB):c.625-20G>C	not provided [RCV003565704]	likely benign	17	81847367	81847367	Human		name
405245355	CV2968961	single nucleotide variant	NM_000918.4(P4HB):c.352+19C>T	not provided [RCV003685045]	likely benign	17	81859162	81859162	Human		name
405200178	CV3056676	single nucleotide variant	NM_000918.4(P4HB):c.1447-7A>G	not provided [RCV003730637]	likely benign	17	81844099	81844099	Human		name
405132990	CV3115265	single nucleotide variant	NM_000918.4(P4HB):c.624+19C>G	not provided [RCV003816110]	likely benign	17	81855123	81855123	Human		name
597918358	CV3737825	single nucleotide variant	NM_000918.4(P4HB):c.856-17C>T	not provided [RCV005074424]	likely benign	17	81846646	81846646	Human		name
597888668	CV3739290	single nucleotide variant	NM_000918.4(P4HB):c.1177+9T>C	not provided [RCV005070837]	likely benign	17	81845862	81845862	Human		name
597976014	CV3829030	single nucleotide variant	NM_000918.4(P4HB):c.1056+3G>T	not provided [RCV005169479]	uncertain significance	17	81846426	81846426	Human		name
150424212	CV1185331	single nucleotide variant	NM_000918.4(P4HB):c.145+143G>A	not provided [RCV001556366]	likely benign	17	81860184	81860184	Human		name
150405528	CV1195274	single nucleotide variant	NM_000918.4(P4HB):c.1446+76C>G	not provided [RCV001571669]	likely benign	17	81845068	81845068	Human		name
8585560	CV120147	single nucleotide variant	NM_000918.3(P4HB):c.352+607C>G	Lung cancer [RCV000100667]	uncertain significance	17	81858574	81858574	Human		name
150468876	CV1207479	single nucleotide variant	NM_000918.4(P4HB):c.855+108G>A	not provided [RCV001588168]	likely benign	17	81846839	81846839	Human		name
150480012	CV1207934	single nucleotide variant	NM_000918.4(P4HB):c.624+118T>C	not provided [RCV001590210]	likely benign	17	81855024	81855024	Human		name
150473225	CV1217593	single nucleotide variant	NM_000918.4(P4HB):c.1446+70T>G	not provided [RCV001615604]	benign	17	81845074	81845074	Human		name
150430000	CV1231570	single nucleotide variant	NM_000918.4(P4HB):c.624+143G>T	not provided [RCV001641137]	benign	17	81854999	81854999	Human		name
150463137	CV1235012	single nucleotide variant	NM_000918.4(P4HB):c.624+190T>C	not provided [RCV001649594]	benign	17	81854952	81854952	Human		name
150485237	CV1250187	single nucleotide variant	NM_000918.4(P4HB):c.625-146T>C	not provided [RCV001673800]	benign	17	81847493	81847493	Human		name
150468582	CV1259518	single nucleotide variant	NM_000918.4(P4HB):c.353-312G>T	not provided [RCV001683818]	benign	17	81855898	81855898	Human		name
150484868	CV1261977	single nucleotide variant	NM_000918.4(P4HB):c.1447-87C>T	not provided [RCV001686668]	benign	17	81844179	81844179	Human		name
150474949	CV1263433	single nucleotide variant	NM_000918.4(P4HB):c.855+102T>C	not provided [RCV001684956]	benign	17	81846845	81846845	Human		name
150494359	CV1267338	single nucleotide variant	NM_000918.4(P4HB):c.352+131G>A	not provided [RCV001688366]	benign	17	81859050	81859050	Human		name
150463360	CV1273142	duplication	NM_000918.4(P4HB):c.624+243dup	not provided [RCV001693899]	benign	17	81854885	81854886	Human		name
150436714	CV1286414	single nucleotide variant	NM_000918.4(P4HB):c.145+151A>C	not provided [RCV001724490]	benign	17	81860176	81860176	Human		name
152132745	CV1545206	single nucleotide variant	NM_000918.4(P4HB):c.1056+16C>A	not provided [RCV002119300]	likely benign	17	81846413	81846413	Human		name
152080581	CV1546553	single nucleotide variant	NM_000918.4(P4HB):c.1056+17G>A	not provided [RCV002130768]	likely benign	17	81846412	81846412	Human		name
152046409	CV1556250	single nucleotide variant	NM_000918.4(P4HB):c.1057-20G>A	not provided [RCV002206970]	likely benign	17	81846011	81846011	Human		name
152075321	CV1616668	duplication	NM_000918.4(P4HB):c.1056+16dup	not provided [RCV002210515]	benign	17	81846412	81846413	Human		name
152026086	CV1639246	single nucleotide variant	NM_000918.4(P4HB):c.1056+14C>T	not provided [RCV002185033]	likely benign	17	81846415	81846415	Human		name
152168555	CV1644425	single nucleotide variant	NM_000918.4(P4HB):c.1359+14C>T	not provided [RCV002182485]	likely benign	17	81845547	81845547	Human		name
152048563	CV1656896	single nucleotide variant	NM_000918.4(P4HB):c.1359+20G>A	not provided [RCV002189115]	benign	17	81845541	81845541	Human		name
156101580	CV1960343	single nucleotide variant	NM_000918.4(P4HB):c.1360-11G>A	not provided [RCV002570867]	benign	17	81845241	81845241	Human		name
156071223	CV2032700	single nucleotide variant	NM_000918.4(P4HB):c.1177+17C>T	not provided [RCV002760325]	likely benign	17	81845854	81845854	Human		name
156370529	CV2048672	single nucleotide variant	NM_000918.4(P4HB):c.1359+19C>T	not provided [RCV002814248]	benign	17	81845542	81845542	Human		name
156254992	CV2098203	single nucleotide variant	NM_000918.4(P4HB):c.1056+10C>T	not provided [RCV002895386]	likely benign	17	81846419	81846419	Human		name
402505412	CV3007290	single nucleotide variant	NM_000918.4(P4HB):c.1178-10T>C	not provided [RCV003688798]	likely benign	17	81845752	81845752	Human		name
405175405	CV3123049	single nucleotide variant	NM_000918.4(P4HB):c.1360-15C>T	not provided [RCV003819448]	likely benign	17	81845245	81845245	Human		name
405142825	CV3125927	single nucleotide variant	NM_000918.4(P4HB):c.1446+14C>T	not provided [RCV003816843]	likely benign	17	81845130	81845130	Human		name
402496880	CV3179236	single nucleotide variant	NM_000918.4(P4HB):c.1447-15T>C	not provided [RCV003877503]	benign	17	81844107	81844107	Human		name
597830829	CV3739487	single nucleotide variant	NM_000918.4(P4HB):c.1056+11G>A	not provided [RCV005062377]	likely benign	17	81846418	81846418	Human		name
597955272	CV3757585	single nucleotide variant	NM_000918.4(P4HB):c.1057-18G>A	not provided [RCV005080251]	likely benign	17	81846009	81846009	Human		name
597865085	CV3767166	single nucleotide variant	NM_000918.4(P4HB):c.1446+10G>T	not provided [RCV005106688]	likely benign	17	81845134	81845134	Human		name
597960199	CV3797985	deletion	NM_000918.4(P4HB):c.1056+16del	not provided [RCV005138459]	benign	17	81846413	81846413	Human		name
597918187	CV3811077	single nucleotide variant	NM_000918.4(P4HB):c.1360-13C>T	not provided [RCV005155112]	likely benign	17	81845243	81845243	Human		name
597920176	CV3811750	single nucleotide variant	NM_000918.4(P4HB):c.1056+16C>T	not provided [RCV005155581]	likely benign	17	81846413	81846413	Human		name
15151660	CV760611	single nucleotide variant	NM_000918.4(P4HB):c.1177+10G>T	not provided [RCV000923722]	likely benign	17	81845861	81845861	Human		name
150420438	CV1195273	single nucleotide variant	NM_000918.4(P4HB):c.1447-163C>T	not provided [RCV001570119]	likely benign	17	81844255	81844255	Human		name
150442169	CV1204663	single nucleotide variant	NM_000918.4(P4HB):c.1447-303G>A	not provided [RCV001583770]	likely benign	17	81844395	81844395	Human		name
150434077	CV1243862	single nucleotide variant	NM_000918.4(P4HB):c.1057-122C>T	not provided [RCV001665068]	benign	17	81846113	81846113	Human		name
596947666	CV3547246	single nucleotide variant	NM_000918.4(P4HB):c.1446+135C>T	not provided [RCV004811550]	likely benign	17	81845009	81845009	Human		name
405057273	CV3134877	microsatellite	NM_000918.4(P4HB):c.487-9_487-7del	not provided [RCV003832549]	likely benign	17	81855286	81855288	Human		name
405146530	CV2949946	single nucleotide variant	NM_000918.4(P4HB):c.19C>T (p.Leu7=)	not provided [RCV003669665]	likely benign	17	81860453	81860453	Human		name
15109986	CV756297	single nucleotide variant	NM_000918.4(P4HB):c.16C>T (p.Leu6=)	not provided [RCV000916445]	likely benign	17	81860456	81860456	Human		name
150490933	CV1251108	single nucleotide variant	NM_000918.4(P4HB):c.88C>A (p.Arg30=)	not provided [RCV001674776]	benign	17	81860384	81860384	Human		name
156318945	CV2014331	single nucleotide variant	NM_000918.4(P4HB):c.60C>G (p.Pro20=)	not provided [RCV002672066]	likely benign	17	81860412	81860412	Human		name
597839021	CV3736961	single nucleotide variant	NM_000918.4(P4HB):c.63G>A (p.Glu21=)	not provided [RCV005064441]	likely benign	17	81860409	81860409	Human		name
597842198	CV3752888	single nucleotide variant	NM_000918.4(P4HB):c.93A>G (p.Lys31=)	not provided [RCV005086617]	likely benign	17	81860379	81860379	Human		name
598128069	CV3883087	single nucleotide variant	NM_000918.4(P4HB):c.84G>A (p.Val28=)	Cole-Carpenter syndrome 1 [RCV005234620]	likely benign	17	81860388	81860388	Human	1	name
150427309	CV1188610	single nucleotide variant	NM_000918.4(P4HB):c.14C>T (p.Ala5Val)	not provided [RCV001560756]	uncertain significance	17	81860458	81860458	Human		name
151872031	CV1487805	single nucleotide variant	NM_000918.4(P4HB):c.285C>T (p.Gly95=)	not provided [RCV001981425]	likely benign\|uncertain significance	17	81859248	81859248	Human		name
152082722	CV1525202	single nucleotide variant	NM_000918.4(P4HB):c.225C>T (p.Ser75=)	not provided [RCV002131027]	likely benign	17	81859308	81859308	Human		name
152166548	CV1532845	single nucleotide variant	NM_000918.4(P4HB):c.133C>T (p.Leu45=)	P4HB-related disorder [RCV003971190]\|not provided [RCV002204469]	benign\|likely benign	17	81860339	81860339	Human	1	name , trait , alternate_id
152152747	CV1609906	single nucleotide variant	NM_000918.4(P4HB):c.249C>T (p.Asp83=)	not provided [RCV002179707]	likely benign	17	81859284	81859284	Human		name
152140529	CV1613868	single nucleotide variant	NM_000918.4(P4HB):c.207G>A (p.Lys69=)	not provided [RCV002084094]	likely benign	17	81859326	81859326	Human		name
152161954	CV1635659	single nucleotide variant	NM_000918.4(P4HB):c.276G>A (p.Gln92=)	not provided [RCV002203585]	likely benign	17	81859257	81859257	Human		name
156446744	CV1948097	single nucleotide variant	NM_000918.4(P4HB):c.23G>A (p.Cys8Tyr)	Inborn genetic diseases [RCV005382600]\|not provided [RCV003118259]	uncertain significance	17	81860449	81860449	Human	1	name
156406865	CV1963800	single nucleotide variant	NM_000918.4(P4HB):c.255G>A (p.Thr85=)	not provided [RCV002586042]	likely benign	17	81859278	81859278	Human		name
156212561	CV2036996	single nucleotide variant	NM_000918.4(P4HB):c.282C>T (p.Tyr94=)	not provided [RCV002790300]	likely benign	17	81859251	81859251	Human		name
156066452	CV2270777	single nucleotide variant	NM_000918.4(P4HB):c.10C>G (p.Arg4Gly)	Inborn genetic diseases [RCV002823206]	uncertain significance	17	81860462	81860462	Human	1	name
156034225	CV2275203	single nucleotide variant	NM_000918.4(P4HB):c.13G>A (p.Ala5Thr)	Inborn genetic diseases [RCV002845613]	uncertain significance	17	81860459	81860459	Human	1	name
405231766	CV2964648	single nucleotide variant	NM_000918.4(P4HB):c.216A>C (p.Ala72=)	not provided [RCV003682317]	likely benign	17	81859317	81859317	Human		name
597943001	CV3757772	single nucleotide variant	NM_000918.4(P4HB):c.225C>A (p.Ser75=)	not provided [RCV005077770]	likely benign	17	81859308	81859308	Human		name
597893168	CV3785404	single nucleotide variant	NM_000918.4(P4HB):c.180C>T (p.Ala60=)	not provided [RCV005125990]	likely benign	17	81859353	81859353	Human		name
597916253	CV3860974	single nucleotide variant	NM_000918.4(P4HB):c.231C>A (p.Ile77=)	not provided [RCV005204337]	likely benign	17	81859302	81859302	Human		name
150335257	CV1164635	duplication	NM_000918.4(P4HB):c.236dup (p.Leu79fs)	Cole-Carpenter syndrome 1 [RCV001530199]	likely pathogenic	17	81859296	81859297	Human	1	name
150448349	CV1214962	single nucleotide variant	NM_000918.4(P4HB):c.714C>T (p.Ile238=)	not provided [RCV001611551]	benign	17	81847258	81847258	Human		name
151766080	CV1348551	single nucleotide variant	NM_000918.4(P4HB):c.37G>A (p.Ala13Thr)	not provided [RCV001895870]	uncertain significance	17	81860435	81860435	Human		name
151839402	CV1415206	single nucleotide variant	NM_000918.4(P4HB):c.396C>T (p.Arg132=)	not provided [RCV001921350]	likely benign\|uncertain significance	17	81855543	81855543	Human		name
152068804	CV1569831	single nucleotide variant	NM_000918.4(P4HB):c.441G>A (p.Glu147=)	not provided [RCV002191503]	likely benign	17	81855498	81855498	Human		name
152097988	CV1611629	single nucleotide variant	NM_000918.4(P4HB):c.879C>T (p.Ser293=)	not provided [RCV002172724]	likely benign	17	81846606	81846606	Human		name
152166540	CV1621108	single nucleotide variant	NM_000918.4(P4HB):c.471C>T (p.Val157=)	not provided [RCV002181956]	likely benign	17	81855468	81855468	Human		name
152030863	CV1632343	single nucleotide variant	NM_000918.4(P4HB):c.723C>T (p.Thr241=)	not provided [RCV002124434]	benign	17	81847249	81847249	Human		name
152028835	CV1639748	single nucleotide variant	NM_000918.4(P4HB):c.375C>T (p.Ile125=)	not provided [RCV002085596]	likely benign	17	81855564	81855564	Human		name
152114483	CV1651281	single nucleotide variant	NM_000918.4(P4HB):c.777G>A (p.Leu259=)	not provided [RCV002153482]	likely benign	17	81847025	81847025	Human		name
152119736	CV1654778	single nucleotide variant	NM_000918.4(P4HB):c.888C>T (p.Thr296=)	not provided [RCV002216617]	likely benign	17	81846597	81846597	Human		name
152057504	CV1656548	single nucleotide variant	NM_000918.4(P4HB):c.837C>T (p.Ala279=)	not provided [RCV002109723]	likely benign	17	81846965	81846965	Human		name
152081058	CV1667077	single nucleotide variant	NM_000918.4(P4HB):c.75C>G (p.His25Gln)	not provided [RCV002211423]	uncertain significance	17	81860397	81860397	Human		name
155689863	CV1777887	single nucleotide variant	NM_000918.4(P4HB):c.73C>T (p.His25Tyr)	not provided [RCV002299228]	uncertain significance	17	81860399	81860399	Human		name
156403533	CV1885822	single nucleotide variant	NM_000918.4(P4HB):c.864C>T (p.Phe288=)	not provided [RCV003069495]	benign	17	81846621	81846621	Human		name
156202816	CV1916889	single nucleotide variant	NM_000918.4(P4HB):c.573C>T (p.Asp191=)	not provided [RCV002595767]	benign	17	81855193	81855193	Human		name
156145505	CV1922969	single nucleotide variant	NM_000918.4(P4HB):c.474C>T (p.Ile158=)	not provided [RCV002623818]	likely benign	17	81855465	81855465	Human		name
156320661	CV1968532	single nucleotide variant	NM_000918.4(P4HB):c.47G>A (p.Arg16His)	not provided [RCV002630320]	likely benign	17	81860425	81860425	Human		name
156241024	CV1996364	single nucleotide variant	NM_000918.4(P4HB):c.978G>A (p.Lys326=)	not provided [RCV002667928]	likely benign	17	81846507	81846507	Human		name
156222278	CV2009222	single nucleotide variant	NM_000918.4(P4HB):c.70G>A (p.Asp24Asn)	not provided [RCV002701050]	uncertain significance	17	81860402	81860402	Human		name
156218312	CV2035579	single nucleotide variant	NM_000918.4(P4HB):c.405G>A (p.Pro135=)	not provided [RCV002766891]	likely benign	17	81855534	81855534	Human		name
156355757	CV2062733	single nucleotide variant	NM_000918.4(P4HB):c.825C>T (p.Phe275=)	not provided [RCV002812115]	likely benign	17	81846977	81846977	Human		name
155957091	CV2066325	single nucleotide variant	NM_000918.4(P4HB):c.98A>G (p.Asn33Ser)	not provided [RCV002816575]	uncertain significance	17	81860374	81860374	Human		name
155908976	CV2131016	single nucleotide variant	NM_000918.4(P4HB):c.312C>T (p.Phe104=)	not provided [RCV002967902]	likely benign	17	81859221	81859221	Human		name
156099084	CV2152921	single nucleotide variant	NM_000918.4(P4HB):c.97A>G (p.Asn33Asp)	not provided [RCV003020979]	uncertain significance	17	81860375	81860375	Human		name
405064262	CV2878934	single nucleotide variant	NM_000918.4(P4HB):c.38C>T (p.Ala13Val)	not provided [RCV003548124]	uncertain significance	17	81860434	81860434	Human		name
405036396	CV2932747	single nucleotide variant	NM_000918.4(P4HB):c.639G>T (p.Arg213=)	not provided [RCV003578737]	likely benign	17	81847333	81847333	Human		name
402521565	CV2940093	single nucleotide variant	NM_000918.4(P4HB):c.339C>T (p.Pro113=)	not provided [RCV003663289]	likely benign	17	81859194	81859194	Human		name
405078981	CV2945349	single nucleotide variant	NM_000918.4(P4HB):c.390G>A (p.Lys130=)	not provided [RCV003664402]	likely benign	17	81855549	81855549	Human		name
405203662	CV2989439	single nucleotide variant	NM_000918.4(P4HB):c.816G>A (p.Leu272=)	not provided [RCV003678399]	likely benign	17	81846986	81846986	Human		name
405118271	CV3020353	single nucleotide variant	NM_000918.4(P4HB):c.300C>T (p.Pro100=)	not provided [RCV003700388]	likely benign	17	81859233	81859233	Human		name
405252078	CV3046269	single nucleotide variant	NM_000918.4(P4HB):c.498G>A (p.Ser166=)	not provided [RCV003722011]	likely benign	17	81855268	81855268	Human		name
405088336	CV3047864	single nucleotide variant	NM_000918.4(P4HB):c.942C>T (p.Ala314=)	not provided [RCV003717555]	likely benign	17	81846543	81846543	Human		name
405162218	CV3062681	single nucleotide variant	NM_000918.4(P4HB):c.82G>A (p.Val28Met)	not provided [RCV003727179]	uncertain significance	17	81860390	81860390	Human		name
405220143	CV3063399	single nucleotide variant	NM_000918.4(P4HB):c.939G>A (p.Pro313=)	not provided [RCV003733122]	likely benign	17	81846546	81846546	Human		name
405188273	CV3121237	single nucleotide variant	NM_000918.4(P4HB):c.549A>G (p.Pro183=)	not provided [RCV003820693]	likely benign	17	81855217	81855217	Human		name
405140042	CV3125785	single nucleotide variant	NM_000918.4(P4HB):c.363G>A (p.Glu121=)	not provided [RCV003816700]	likely benign	17	81855576	81855576	Human		name
405151917	CV3142120	single nucleotide variant	NM_000918.4(P4HB):c.606G>A (p.Gly202=)	not provided [RCV003840042]	likely benign	17	81855160	81855160	Human		name
405196286	CV3146547	single nucleotide variant	NM_000918.4(P4HB):c.987C>T (p.Pro329=)	not provided [RCV003843902]	likely benign	17	81846498	81846498	Human		name
405291773	CV3206126	single nucleotide variant	NM_000918.4(P4HB):c.912C>T (p.Phe304=)	P4HB-related disorder [RCV003964197]	likely benign	17	81846573	81846573	Human		name , trait , alternate_id
405270305	CV3215480	single nucleotide variant	NM_000918.4(P4HB):c.558C>T (p.Ile186=)	P4HB-related disorder [RCV003949220]	likely benign	17	81855208	81855208	Human		name , trait , alternate_id
405740149	CV3371365	single nucleotide variant	NM_000918.4(P4HB):c.91A>C (p.Lys31Gln)	Inborn genetic diseases [RCV004497614]	uncertain significance	17	81860381	81860381	Human	1	name
597913375	CV3740483	single nucleotide variant	NM_000918.4(P4HB):c.612C>T (p.Val204=)	not provided [RCV005073820]	likely benign	17	81855154	81855154	Human		name
597835738	CV3761015	single nucleotide variant	NM_000918.4(P4HB):c.594C>T (p.Leu198=)	not provided [RCV005085566]	likely benign	17	81855172	81855172	Human		name
597850963	CV3761787	single nucleotide variant	NM_000918.4(P4HB):c.58C>G (p.Pro20Ala)	not provided [RCV005087883]	uncertain significance	17	81860414	81860414	Human		name
597939504	CV3775253	single nucleotide variant	NM_000918.4(P4HB):c.714C>A (p.Ile238=)	not provided [RCV005118079]	likely benign	17	81847258	81847258	Human		name
597970823	CV3802102	single nucleotide variant	NM_000918.4(P4HB):c.807C>T (p.Asp269=)	not provided [RCV005141894]	likely benign	17	81846995	81846995	Human		name
597927483	CV3836953	single nucleotide variant	NM_000918.4(P4HB):c.772C>T (p.Leu258=)	not provided [RCV005185304]	likely benign	17	81847030	81847030	Human		name
597956172	CV3838151	single nucleotide variant	NM_000918.4(P4HB):c.429C>T (p.Gly143=)	not provided [RCV005191526]	likely benign	17	81855510	81855510	Human		name
597906675	CV3842885	single nucleotide variant	NM_000918.4(P4HB):c.420G>C (p.Leu140=)	not provided [RCV005182192]	likely benign	17	81855519	81855519	Human		name
15198329	CV727573	single nucleotide variant	NM_000918.4(P4HB):c.303C>T (p.Thr101=)	P4HB-related disorder [RCV003957934]\|not provided [RCV000890324]	benign\|likely benign	17	81859230	81859230	Human	1	name , trait , alternate_id
15122311	CV741216	single nucleotide variant	NM_000918.4(P4HB):c.378G>A (p.Val126=)	not provided [RCV000896219]	likely benign	17	81855561	81855561	Human		name
15109980	CV756293	single nucleotide variant	NM_000918.4(P4HB):c.933G>A (p.Glu311=)	not provided [RCV000916444]	likely benign	17	81846552	81846552	Human		name
15160082	CV756294	single nucleotide variant	NM_000918.4(P4HB):c.873C>T (p.Ile291=)	P4HB-related disorder [RCV003970528]\|not provided [RCV000925412]	likely benign	17	81846612	81846612	Human	1	name , trait , alternate_id
15109490	CV756295	single nucleotide variant	NM_000918.4(P4HB):c.693C>T (p.His231=)	not provided [RCV000916346]	likely benign	17	81847279	81847279	Human		name
15114830	CV756296	single nucleotide variant	NM_000918.4(P4HB):c.426C>T (p.Asp142=)	not provided [RCV000917349]	likely benign	17	81855513	81855513	Human		name
150471046	CV1209461	insertion	NM_000918.4(P4HB):c.624+245_624+246insC	not provided [RCV001588572]	likely benign	17	81854896	81854897	Human		name
150446043	CV1250608	single nucleotide variant	NM_000918.4(P4HB):c.1365T>C (p.Ile455=)	not provided [RCV001667112]	benign	17	81845225	81845225	Human		name
150497606	CV1281461	single nucleotide variant	NM_000918.4(P4HB):c.1302C>T (p.Ala434=)	not provided [RCV001717878]	benign\|likely benign	17	81845618	81845618	Human		name
151778309	CV1449747	single nucleotide variant	NM_000918.4(P4HB):c.234G>C (p.Arg78Ser)	not provided [RCV002009498]	uncertain significance	17	81859299	81859299	Human		name
151734036	CV1509973	single nucleotide variant	NM_000918.4(P4HB):c.290G>A (p.Arg97His)	not provided [RCV001892545]	likely benign\|uncertain significance	17	81859243	81859243	Human		name
152046454	CV1525848	single nucleotide variant	NM_000918.4(P4HB):c.104C>T (p.Ala35Val)	Inborn genetic diseases [RCV004656889]\|P4HB-related disorder [RCV003903533]\|not provided [RCV002126698]	benign\|likely benign\|uncertain significance	17	81860368	81860368	Human	2	name , trait , alternate_id
152031412	CV1561176	single nucleotide variant	NM_000918.4(P4HB):c.1005G>A (p.Thr335=)	not provided [RCV002106149]	likely benign	17	81846480	81846480	Human		name
152081928	CV1589493	single nucleotide variant	NM_000918.4(P4HB):c.1161C>T (p.Asn387=)	not provided [RCV002112870]	likely benign	17	81845887	81845887	Human		name
152167900	CV1611795	single nucleotide variant	NM_000918.4(P4HB):c.1323C>G (p.Pro441=)	not provided [RCV002182288]	likely benign	17	81845597	81845597	Human		name
156221862	CV1965457	single nucleotide variant	NM_000918.4(P4HB):c.1137C>T (p.Asp379=)	not provided [RCV002596491]	likely benign	17	81845911	81845911	Human		name
156213490	CV2018987	single nucleotide variant	NM_000918.4(P4HB):c.1476G>A (p.Glu492=)	not provided [RCV002700718]	likely benign	17	81844063	81844063	Human		name
156270985	CV2026941	single nucleotide variant	NM_000918.4(P4HB):c.283G>C (p.Gly95Arg)	not provided [RCV002746638]	uncertain significance	17	81859250	81859250	Human		name
156114104	CV2039181	single nucleotide variant	NM_000918.4(P4HB):c.1290C>T (p.Asn430=)	not provided [RCV002785521]	likely benign	17	81845630	81845630	Human		name
156158914	CV2095055	single nucleotide variant	NM_000918.4(P4HB):c.220G>C (p.Gly74Arg)	not provided [RCV002890914]	uncertain significance	17	81859313	81859313	Human		name
156104052	CV2132426	single nucleotide variant	NM_000918.4(P4HB):c.1083G>A (p.Pro361=)	P4HB-related disorder [RCV003936493]\|not provided [RCV003002325]	benign\|likely benign	17	81845965	81845965	Human	1	name , trait , alternate_id
156337582	CV2168554	single nucleotide variant	NM_000918.4(P4HB):c.118G>T (p.Ala40Ser)	not provided [RCV003030105]	uncertain significance	17	81860354	81860354	Human		name
155906890	CV2302110	single nucleotide variant	NM_000918.4(P4HB):c.233G>C (p.Arg78Thr)	Inborn genetic diseases [RCV002901939]	uncertain significance	17	81859300	81859300	Human	1	name
405169037	CV2911640	single nucleotide variant	NM_000918.4(P4HB):c.1014G>A (p.Arg338=)	not provided [RCV003562929]	likely benign	17	81846471	81846471	Human		name
404979700	CV3127781	single nucleotide variant	NM_000918.4(P4HB):c.1266C>T (p.Ile422=)	not provided [RCV003825813]	likely benign	17	81845654	81845654	Human		name
405131427	CV3133459	single nucleotide variant	NM_000918.4(P4HB):c.286G>C (p.Val96Leu)	not provided [RCV003838429]	uncertain significance	17	81859247	81859247	Human		name
405233721	CV3144973	single nucleotide variant	NM_000918.4(P4HB):c.1239G>A (p.Thr413=)	not provided [RCV003853230]	likely benign	17	81845681	81845681	Human		name
405221109	CV3154714	single nucleotide variant	NM_000918.4(P4HB):c.253A>G (p.Thr85Ala)	not provided [RCV003847209]	uncertain significance	17	81859280	81859280	Human		name
405258177	CV3208224	single nucleotide variant	NM_000918.4(P4HB):c.1416C>T (p.Ser472=)	P4HB-related disorder [RCV003941661]\|not provided [RCV005064826]	likely benign	17	81845174	81845174	Human	1	name , trait , alternate_id
407517429	CV3470004	single nucleotide variant	NM_000918.4(P4HB):c.152C>T (p.Pro51Leu)	Inborn genetic diseases [RCV004650650]\|not provided [RCV005250344]	uncertain significance	17	81859381	81859381	Human	1	name
408366078	CV3515099	single nucleotide variant	NM_000918.4(P4HB):c.1228C>T (p.Leu410=)	P4HB-related disorder [RCV004755565]	likely benign	17	81845692	81845692	Human		name , trait , alternate_id
597906900	CV3738843	single nucleotide variant	NM_000918.4(P4HB):c.1512G>A (p.Val504=)	not provided [RCV005073078]	likely benign	17	81844027	81844027	Human		name
597857174	CV3748136	single nucleotide variant	NM_000918.4(P4HB):c.1197C>T (p.His399=)	not provided [RCV005066958]	likely benign	17	81845723	81845723	Human		name
597916146	CV3779320	single nucleotide variant	NM_000918.4(P4HB):c.1059C>A (p.Pro353=)	not provided [RCV005129461]	likely benign	17	81845989	81845989	Human		name
597969294	CV3791303	single nucleotide variant	NM_000918.4(P4HB):c.196G>A (p.Ala66Thr)	not provided [RCV005141335]	uncertain significance	17	81859337	81859337	Human		name
15150786	CV727572	single nucleotide variant	NM_000918.4(P4HB):c.1497T>C (p.Asp499=)	P4HB-related disorder [RCV003955793]\|not provided [RCV000879456]	benign\|likely benign	17	81844042	81844042	Human	1	name , trait , alternate_id
15193107	CV727574	single nucleotide variant	NM_000918.4(P4HB):c.281A>G (p.Tyr94Cys)	P4HB-related disorder [RCV003920726]\|not provided [RCV000888855]	benign\|likely benign	17	81859252	81859252	Human	1	name , trait , alternate_id
15138700	CV741213	single nucleotide variant	NM_000918.4(P4HB):c.1443T>C (p.Asp481=)	not provided [RCV000899027]	likely benign	17	81845147	81845147	Human		name
15188047	CV741214	single nucleotide variant	NM_000918.4(P4HB):c.1374C>T (p.Asn458=)	not provided [RCV000909257]	benign	17	81845216	81845216	Human		name
15162734	CV741215	single nucleotide variant	NM_000918.4(P4HB):c.1251T>C (p.His417=)	not provided [RCV000903619]	likely benign	17	81845669	81845669	Human		name
15150277	CV756289	single nucleotide variant	NM_000918.4(P4HB):c.1452C>T (p.Leu484=)	not provided [RCV000923443]	likely benign	17	81844087	81844087	Human		name
15202150	CV756290	single nucleotide variant	NM_000918.4(P4HB):c.1407C>T (p.Phe469=)	not provided [RCV000913349]	likely benign	17	81845183	81845183	Human		name
15110433	CV756291	single nucleotide variant	NM_000918.4(P4HB):c.1350C>T (p.Ala450=)	not provided [RCV000916532]	benign	17	81845570	81845570	Human		name
15200007	CV756292	single nucleotide variant	NM_000918.4(P4HB):c.1158A>G (p.Lys386=)	P4HB-related disorder [RCV003950768]\|not provided [RCV000912718]	likely benign	17	81845890	81845890	Human	1	name , trait , alternate_id
126734440	CV1021719	single nucleotide variant	NM_000918.4(P4HB):c.718T>C (p.Phe240Leu)	Cole-Carpenter syndrome 1 [RCV001334603]	uncertain significance	17	81847254	81847254	Human	1	name
127295734	CV1158199	single nucleotide variant	NM_000918.4(P4HB):c.430G>A (p.Ala144Thr)	Cole-Carpenter syndrome 1 [RCV002495787]\|P4HB-related disorder [RCV004754766]\|not provided [RCV001512301]	benign\|likely benign	17	81855509	81855509	Human	2	name , trait , alternate_id
150485105	CV1222634	single nucleotide variant	NM_000918.4(P4HB):c.404C>T (p.Pro135Leu)	not provided [RCV001617637]	benign	17	81855535	81855535	Human		name
150502621	CV1223264	deletion	NM_000918.4(P4HB):c.1447-161_1447-160del	not provided [RCV001621198]	benign	17	81844252	81844253	Human		name
150541093	CV1298668	single nucleotide variant	NM_000918.4(P4HB):c.709G>A (p.Val237Ile)	Inborn genetic diseases [RCV002540314]\|not provided [RCV001760816]	conflicting interpretations of pathogenicity\|uncertain significance	17	81847263	81847263	Human	1	name
150556473	CV1303160	single nucleotide variant	NM_000918.4(P4HB):c.992C>T (p.Ser331Leu)	Inborn genetic diseases [RCV003247017]\|not provided [RCV001774353]	uncertain significance	17	81846493	81846493	Human	1	name
151722418	CV1406646	single nucleotide variant	NM_000918.4(P4HB):c.620A>G (p.Lys207Arg)	not provided [RCV002003862]	uncertain significance	17	81855146	81855146	Human		name
151842952	CV1408689	single nucleotide variant	NM_000918.4(P4HB):c.449T>C (p.Val150Ala)	not provided [RCV002015559]	uncertain significance	17	81855490	81855490	Human		name
151775616	CV1427069	single nucleotide variant	NM_000918.4(P4HB):c.689A>G (p.Lys230Arg)	not provided [RCV002009262]	uncertain significance	17	81847283	81847283	Human		name
151851086	CV1460513	single nucleotide variant	NM_000918.4(P4HB):c.838G>A (p.Glu280Lys)	not provided [RCV001904104]	benign\|uncertain significance	17	81846964	81846964	Human		name
151751339	CV1464107	single nucleotide variant	NM_000918.4(P4HB):c.448G>T (p.Val150Leu)	not provided [RCV001948168]	uncertain significance	17	81855491	81855491	Human		name
151814981	CV1485546	single nucleotide variant	NM_000918.4(P4HB):c.899G>A (p.Arg300His)	not provided [RCV002029337]	uncertain significance	17	81846586	81846586	Human		name
151876628	CV1490198	single nucleotide variant	NM_000918.4(P4HB):c.803A>G (p.Tyr268Cys)	not provided [RCV001940472]	benign\|uncertain significance	17	81846999	81846999	Human		name
151873172	CV1493135	single nucleotide variant	NM_000918.4(P4HB):c.693C>G (p.His231Gln)	Inborn genetic diseases [RCV004042677]\|not provided [RCV001906748]	benign\|uncertain significance	17	81847279	81847279	Human	1	name
151766003	CV1496042	single nucleotide variant	NM_000918.4(P4HB):c.376G>A (p.Val126Met)	not provided [RCV001873979]	uncertain significance	17	81855563	81855563	Human		name
151809484	CV1497071	single nucleotide variant	NM_000918.4(P4HB):c.574G>A (p.Val192Met)	Inborn genetic diseases [RCV004656760]\|not provided [RCV001974634]	uncertain significance	17	81855192	81855192	Human	1	name
151858750	CV1503551	single nucleotide variant	NM_000918.4(P4HB):c.497C>T (p.Ser166Leu)	Inborn genetic diseases [RCV005382300]\|not provided [RCV001979852]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	81855269	81855269	Human	1	name
151791582	CV1509490	single nucleotide variant	NM_000918.4(P4HB):c.664A>G (p.Lys222Glu)	not provided [RCV001876566]	uncertain significance	17	81847308	81847308	Human		name
151890595	CV1511216	single nucleotide variant	NM_000918.4(P4HB):c.724G>A (p.Glu242Lys)	Inborn genetic diseases [RCV003264339]\|not provided [RCV001963694]	uncertain significance	17	81847248	81847248	Human	1	name
151889048	CV1516109	single nucleotide variant	NM_000918.4(P4HB):c.395G>T (p.Arg132Leu)	not provided [RCV002038524]	uncertain significance	17	81855544	81855544	Human		name
152033135	CV1542611	single nucleotide variant	NM_000918.4(P4HB):c.808G>A (p.Gly270Ser)	not provided [RCV002106510]	benign	17	81846994	81846994	Human		name
152080333	CV1546504	single nucleotide variant	NM_000918.4(P4HB):c.874G>A (p.Asp292Asn)	P4HB-related disorder [RCV003951217]\|not provided [RCV002130743]	benign\|likely benign	17	81846611	81846611	Human	1	name , trait , alternate_id
152063530	CV1587826	single nucleotide variant	NM_000918.4(P4HB):c.638G>A (p.Arg213Gln)	not provided [RCV002090558]	benign	17	81847334	81847334	Human		name
152050048	CV1664677	single nucleotide variant	NM_000918.4(P4HB):c.616T>G (p.Phe206Val)	not provided [RCV002127133]	likely benign\|conflicting interpretations of pathogenicity	17	81855150	81855150	Human		name
155803901	CV1858468	single nucleotide variant	NM_000918.4(P4HB):c.362A>G (p.Glu121Gly)	Inborn genetic diseases [RCV003289513]\|not provided [RCV002462778]	uncertain significance	17	81855577	81855577	Human	1	name
156356776	CV1891120	single nucleotide variant	NM_000918.4(P4HB):c.787A>C (p.Lys263Gln)	not provided [RCV003091412]	uncertain significance	17	81847015	81847015	Human		name
156111660	CV1961685	single nucleotide variant	NM_000918.4(P4HB):c.889G>A (p.Asp297Asn)	not provided [RCV002592798]	uncertain significance	17	81846596	81846596	Human		name
156415333	CV1962151	single nucleotide variant	NM_000918.4(P4HB):c.737C>T (p.Pro246Leu)	not provided [RCV002589106]	uncertain significance	17	81847065	81847065	Human		name
156337177	CV1964009	single nucleotide variant	NM_000918.4(P4HB):c.320A>G (p.Asn107Ser)	not provided [RCV002580306]	benign	17	81859213	81859213	Human		name
156403641	CV1989583	single nucleotide variant	NM_000918.4(P4HB):c.307A>G (p.Lys103Glu)	not provided [RCV002657885]	uncertain significance	17	81859226	81859226	Human		name
156310191	CV2000037	single nucleotide variant	NM_000918.4(P4HB):c.874G>C (p.Asp292His)	not provided [RCV002671589]	uncertain significance	17	81846611	81846611	Human		name
156235395	CV2036453	single nucleotide variant	NM_000918.4(P4HB):c.304A>G (p.Ile102Val)	not provided [RCV002805477]	uncertain significance	17	81859229	81859229	Human		name
156036253	CV2052542	single nucleotide variant	NM_000918.4(P4HB):c.809G>A (p.Gly270Asp)	not provided [RCV002796261]	benign\|uncertain significance	17	81846993	81846993	Human		name
156177520	CV2072106	single nucleotide variant	NM_000918.4(P4HB):c.426C>G (p.Asp142Glu)	not provided [RCV002851731]	uncertain significance	17	81855513	81855513	Human		name
156361635	CV2119517	single nucleotide variant	NM_000918.4(P4HB):c.544A>T (p.Ile182Leu)	Inborn genetic diseases [RCV005382509]\|not provided [RCV002967017]	uncertain significance	17	81855222	81855222	Human	1	name
156181148	CV2155519	single nucleotide variant	NM_000918.4(P4HB):c.580T>C (p.Ser194Pro)	not provided [RCV003005707]	uncertain significance	17	81855186	81855186	Human		name
156191873	CV2162134	single nucleotide variant	NM_000918.4(P4HB):c.527C>G (p.Ala176Gly)	not provided [RCV003041675]	uncertain significance	17	81855239	81855239	Human		name
243049892	CV2417235	deletion	NM_000918.4(P4HB):c.1160del (p.Asn387fs)	not provided [RCV003152107]	uncertain significance	17	81845888	81845888	Human		name
401744570	CV2688190	single nucleotide variant	NM_000918.4(P4HB):c.706C>T (p.Leu236Phe)	Inborn genetic diseases [RCV003275323]	uncertain significance	17	81847266	81847266	Human	1	name
401937775	CV2797022	single nucleotide variant	NM_000918.4(P4HB):c.475G>T (p.Gly159Cys)	P4HB-related disorder [RCV003416870]	uncertain significance	17	81855464	81855464	Human		name , trait , alternate_id
401908457	CV2801344	single nucleotide variant	NM_000918.4(P4HB):c.994G>A (p.Glu332Lys)	P4HB-related disorder [RCV003397585]	uncertain significance	17	81846491	81846491	Human		name , trait , alternate_id
405222401	CV2891006	single nucleotide variant	NM_000918.4(P4HB):c.398C>T (p.Thr133Met)	not provided [RCV003554127]	uncertain significance	17	81855541	81855541	Human		name
405058996	CV2929009	single nucleotide variant	NM_000918.4(P4HB):c.395G>C (p.Arg132Pro)	not provided [RCV003580331]	uncertain significance	17	81855544	81855544	Human		name
404981636	CV3006139	single nucleotide variant	NM_000918.4(P4HB):c.505G>A (p.Ala169Thr)	not provided [RCV003691160]	uncertain significance	17	81855261	81855261	Human		name
405075573	CV3007865	single nucleotide variant	NM_000918.4(P4HB):c.536T>C (p.Ile179Thr)	not provided [RCV003716737]	uncertain significance	17	81855230	81855230	Human		name
405207132	CV3036921	single nucleotide variant	NM_000918.4(P4HB):c.566A>G (p.Asn189Ser)	Inborn genetic diseases [RCV004373936]\|not provided [RCV003708149]	uncertain significance	17	81855200	81855200	Human	1	name
405126709	CV3053561	single nucleotide variant	NM_000918.4(P4HB):c.802T>G (p.Tyr268Asp)	not provided [RCV003724441]	uncertain significance	17	81847000	81847000	Human		name
405200742	CV3128947	single nucleotide variant	NM_000918.4(P4HB):c.568A>T (p.Ser190Cys)	not provided [RCV003821990]	uncertain significance	17	81855198	81855198	Human		name
405117874	CV3131008	single nucleotide variant	NM_000918.4(P4HB):c.484A>G (p.Lys162Glu)	not provided [RCV003837064]	uncertain significance	17	81855455	81855455	Human		name
405131416	CV3133458	single nucleotide variant	NM_000918.4(P4HB):c.583A>G (p.Lys195Glu)	not provided [RCV003838428]	uncertain significance	17	81855183	81855183	Human		name
402473956	CV3172307	single nucleotide variant	NM_000918.4(P4HB):c.490G>A (p.Val164Met)	not provided [RCV003874910]	uncertain significance	17	81855276	81855276	Human		name
405740136	CV3371363	single nucleotide variant	NM_000918.4(P4HB):c.327C>A (p.Asp109Glu)	Inborn genetic diseases [RCV004497612]	uncertain significance	17	81859206	81859206	Human	1	name
405740142	CV3371364	single nucleotide variant	NM_000918.4(P4HB):c.478T>G (p.Phe160Val)	Inborn genetic diseases [RCV004497613]	uncertain significance	17	81855461	81855461	Human	1	name
407427117	CV3410454	single nucleotide variant	NM_000918.4(P4HB):c.801C>G (p.Asp267Glu)	not specified [RCV004586101]	uncertain significance	17	81847001	81847001	Human		name
407505942	CV3496091	single nucleotide variant	NM_000918.4(P4HB):c.608T>C (p.Val203Ala)	not provided [RCV004697931]	uncertain significance	17	81855158	81855158	Human		name
408389340	CV3523023	single nucleotide variant	NM_000918.4(P4HB):c.685A>G (p.Ile229Val)	not provided [RCV004769404]	uncertain significance	17	81847287	81847287	Human		name
596924444	CV3532265	single nucleotide variant	NM_000918.4(P4HB):c.337C>A (p.Pro113Thr)	not provided [RCV004777376]	uncertain significance	17	81859196	81859196	Human		name
597702393	CV3578230	single nucleotide variant	NM_000918.4(P4HB):c.311T>C (p.Phe104Ser)	Inborn genetic diseases [RCV004956818]	uncertain significance	17	81859222	81859222	Human	1	name
597967901	CV3752131	single nucleotide variant	NM_000918.4(P4HB):c.595G>A (p.Asp199Asn)	not provided [RCV005083325]	uncertain significance	17	81855171	81855171	Human		name
597941262	CV3757366	single nucleotide variant	NM_000918.4(P4HB):c.731C>T (p.Thr244Ile)	not provided [RCV005077552]	uncertain significance	17	81847071	81847071	Human		name
597941850	CV3757475	single nucleotide variant	NM_000918.4(P4HB):c.427G>A (p.Gly143Ser)	not provided [RCV005077661]	uncertain significance	17	81855512	81855512	Human		name
597938274	CV3760068	single nucleotide variant	NM_000918.4(P4HB):c.329C>T (p.Thr110Met)	Cole-Carpenter syndrome 1 [RCV005230835]\|not provided [RCV005076992]	uncertain significance	17	81859204	81859204	Human	1	name
597938555	CV3760128	single nucleotide variant	NM_000918.4(P4HB):c.395G>A (p.Arg132His)	not provided [RCV005077052]	uncertain significance	17	81855544	81855544	Human		name
597962655	CV3791494	single nucleotide variant	NM_000918.4(P4HB):c.479T>C (p.Phe160Ser)	not provided [RCV005139248]	uncertain significance	17	81855460	81855460	Human		name
597959784	CV3794220	single nucleotide variant	NM_000918.4(P4HB):c.622A>C (p.Lys208Gln)	not provided [RCV005138333]	uncertain significance	17	81855144	81855144	Human		name
597975162	CV3798774	single nucleotide variant	NM_000918.4(P4HB):c.871A>G (p.Ile291Val)	not provided [RCV005144363]	uncertain significance	17	81846614	81846614	Human		name
597973291	CV3801048	single nucleotide variant	NM_000918.4(P4HB):c.665A>G (p.Lys222Arg)	not provided [RCV005143243]	uncertain significance	17	81847307	81847307	Human		name
597938350	CV3808230	single nucleotide variant	NM_000918.4(P4HB):c.761A>T (p.Lys254Met)	not provided [RCV005158418]	uncertain significance	17	81847041	81847041	Human		name
597951350	CV3815344	single nucleotide variant	NM_000918.4(P4HB):c.605G>A (p.Gly202Glu)	not provided [RCV005161294]	uncertain significance	17	81855161	81855161	Human		name
597875660	CV3816828	single nucleotide variant	NM_000918.4(P4HB):c.988G>A (p.Glu330Lys)	not provided [RCV005148881]	uncertain significance	17	81846497	81846497	Human		name
597837722	CV3828854	single nucleotide variant	NM_000918.4(P4HB):c.788A>G (p.Lys263Arg)	not provided [RCV005171547]	uncertain significance	17	81847014	81847014	Human		name
597959702	CV3843433	single nucleotide variant	NM_000918.4(P4HB):c.692A>C (p.His231Pro)	not provided [RCV005192468]	uncertain significance	17	81847280	81847280	Human		name
598163675	CV3995917	single nucleotide variant	NM_000918.4(P4HB):c.569G>T (p.Ser190Ile)	Inborn genetic diseases [RCV005391029]	uncertain significance	17	81855197	81855197	Human	1	name
598163679	CV3995918	single nucleotide variant	NM_000918.4(P4HB):c.440A>G (p.Glu147Gly)	Inborn genetic diseases [RCV005391030]	uncertain significance	17	81855499	81855499	Human	1	name
150508981	CV1244965	single nucleotide variant	NM_000918.4(P4HB):c.1033C>G (p.Arg345Gly)	not provided [RCV001659216]	benign	17	81846452	81846452	Human		name
151861517	CV1364939	single nucleotide variant	NM_000918.4(P4HB):c.1444G>T (p.Asp482Tyr)	not provided [RCV002017812]	uncertain significance	17	81845146	81845146	Human		name
151777565	CV1365363	single nucleotide variant	NM_000918.4(P4HB):c.1238C>T (p.Thr413Met)	Inborn genetic diseases [RCV002551131]\|not provided [RCV001864661]	uncertain significance	17	81845682	81845682	Human	1	name
151746975	CV1375126	single nucleotide variant	NM_000918.4(P4HB):c.1306A>G (p.Lys436Glu)	not provided [RCV001947707]	uncertain significance	17	81845614	81845614	Human		name
151742146	CV1404974	single nucleotide variant	NM_000918.4(P4HB):c.1192G>A (p.Gly398Ser)	not provided [RCV001947202]	uncertain significance	17	81845728	81845728	Human		name
151782948	CV1422374	single nucleotide variant	NM_000918.4(P4HB):c.1495G>A (p.Asp499Asn)	not provided [RCV001972250]	uncertain significance	17	81844044	81844044	Human		name
151847223	CV1439633	single nucleotide variant	NM_000918.4(P4HB):c.1514A>G (p.Lys505Arg)	Inborn genetic diseases [RCV004046246]\|not provided [RCV002016092]	uncertain significance	17	81844025	81844025	Human	1	name
151727561	CV1486348	single nucleotide variant	NM_000918.4(P4HB):c.1199G>T (p.Cys400Phe)	not provided [RCV001891912]	uncertain significance	17	81845721	81845721	Human		name
151788838	CV1488939	single nucleotide variant	NM_000918.4(P4HB):c.1420G>A (p.Gly474Ser)	not provided [RCV002010490]	uncertain significance	17	81845170	81845170	Human		name
151878586	CV1506065	single nucleotide variant	NM_000918.4(P4HB):c.1424A>G (p.Gln475Arg)	Inborn genetic diseases [RCV004953261]\|not provided [RCV001886162]	uncertain significance	17	81845166	81845166	Human	1	name
152069588	CV1589225	single nucleotide variant	NM_000918.4(P4HB):c.1358C>T (p.Thr453Met)	not provided [RCV002209805]	likely benign	17	81845562	81845562	Human		name
152981701	CV1677005	single nucleotide variant	NM_000918.4(P4HB):c.1000C>G (p.Leu334Val)	not specified [RCV002248072]	uncertain significance	17	81846485	81846485	Human		name
156381178	CV1868279	single nucleotide variant	NM_000918.4(P4HB):c.1004C>T (p.Thr335Met)	not provided [RCV003050497]	likely benign	17	81846481	81846481	Human		name
10042026	CV187226	single nucleotide variant	NM_000918.4(P4HB):c.1178A>G (p.Tyr393Cys)	Cole-Carpenter syndrome 1 [RCV000169753]\|not provided [RCV003556214]	pathogenic\|not provided	17	81845742	81845742	Human	1	name
156031042	CV1899622	single nucleotide variant	NM_000918.4(P4HB):c.1198T>C (p.Cys400Arg)	not provided [RCV003100651]	likely pathogenic	17	81845722	81845722	Human		name
156216857	CV1927776	single nucleotide variant	NM_000918.4(P4HB):c.1275G>A (p.Met425Ile)	not provided [RCV002644233]	uncertain significance	17	81845645	81845645	Human		name
156444622	CV1948352	single nucleotide variant	NM_000918.4(P4HB):c.1381C>T (p.Arg461Cys)	not provided [RCV003115547]	uncertain significance	17	81845209	81845209	Human		name
156141027	CV2040809	single nucleotide variant	NM_000918.4(P4HB):c.1095C>G (p.Asp365Glu)	not provided [RCV002786523]	uncertain significance	17	81845953	81845953	Human		name
156030596	CV2052230	single nucleotide variant	NM_000918.4(P4HB):c.1096A>G (p.Lys366Glu)	not provided [RCV002821047]	uncertain significance	17	81845952	81845952	Human		name
155925110	CV2073880	single nucleotide variant	NM_000918.4(P4HB):c.1136A>T (p.Asp379Val)	not provided [RCV002838492]	uncertain significance	17	81845912	81845912	Human		name
156305092	CV2105203	single nucleotide variant	NM_000918.4(P4HB):c.1237A>G (p.Thr413Ala)	not provided [RCV002922778]	uncertain significance	17	81845683	81845683	Human		name
156214348	CV2114698	microsatellite	NM_000918.4(P4HB):c.63GGA[2] (p.Glu23del)	not provided [RCV002932197]	likely benign\|uncertain significance	17	81860401	81860403	Human		name
156307758	CV2115696	single nucleotide variant	NM_000918.4(P4HB):c.1153A>G (p.Lys385Glu)	Cole-Carpenter syndrome 1 [RCV003138396]\|Inborn genetic diseases [RCV004958842]\|not provided [RCV002922902]	uncertain significance	17	81845895	81845895	Human	2	name
156054737	CV2192629	single nucleotide variant	NM_000918.4(P4HB):c.1214C>T (p.Pro405Leu)	not provided [RCV003037036]	uncertain significance	17	81845706	81845706	Human		name
156206151	CV2297936	single nucleotide variant	NM_000918.4(P4HB):c.1489G>A (p.Glu497Lys)	Inborn genetic diseases [RCV002875154]	uncertain significance	17	81844050	81844050	Human	1	name
156162567	CV2368224	single nucleotide variant	NM_000918.4(P4HB):c.1355G>A (p.Arg452Lys)	Inborn genetic diseases [RCV002698353]\|not provided [RCV003548954]	uncertain significance	17	81845565	81845565	Human	1	name
156218194	CV2386215	single nucleotide variant	NM_000918.4(P4HB):c.1009G>A (p.Glu337Lys)	Inborn genetic diseases [RCV002744548]	uncertain significance	17	81846476	81846476	Human	1	name
243059360	CV2408476	single nucleotide variant	NM_000918.4(P4HB):c.1453G>C (p.Glu485Gln)	Cole-Carpenter syndrome 1 [RCV003134721]	uncertain significance	17	81844086	81844086	Human	1	name
401907928	CV2818103	single nucleotide variant	NM_000918.4(P4HB):c.1280C>T (p.Ser427Leu)	Inborn genetic diseases [RCV004654216]\|not provided [RCV003422982]	uncertain significance	17	81845640	81845640	Human	1	name
402477389	CV2914330	single nucleotide variant	NM_000918.4(P4HB):c.1253A>G (p.Glu418Gly)	not provided [RCV003571655]	uncertain significance	17	81845667	81845667	Human		name
405076448	CV2948572	single nucleotide variant	NM_000918.4(P4HB):c.1018A>G (p.Thr340Ala)	not provided [RCV003664239]	uncertain significance	17	81846467	81846467	Human		name
405088585	CV3025083	single nucleotide variant	NM_000918.4(P4HB):c.1255A>G (p.Asn419Asp)	not provided [RCV003699577]	uncertain significance	17	81845665	81845665	Human		name
405157318	CV3037362	single nucleotide variant	NM_000918.4(P4HB):c.1456G>A (p.Asp486Asn)	not provided [RCV003703626]	uncertain significance	17	81844083	81844083	Human		name
405121758	CV3116573	single nucleotide variant	NM_000918.4(P4HB):c.1006G>T (p.Ala336Ser)	not provided [RCV003814875]	benign	17	81846479	81846479	Human		name
405067517	CV3140105	single nucleotide variant	NM_000918.4(P4HB):c.1291G>A (p.Glu431Lys)	not provided [RCV003833260]	uncertain significance	17	81845629	81845629	Human		name
405215983	CV3143333	single nucleotide variant	NM_000918.4(P4HB):c.1376G>A (p.Gly459Glu)	not provided [RCV003846497]	uncertain significance	17	81845214	81845214	Human		name
405174027	CV3151851	single nucleotide variant	NM_000918.4(P4HB):c.1416C>G (p.Ser472Arg)	not provided [RCV003858002]	uncertain significance	17	81845174	81845174	Human		name
405140728	CV3155262	single nucleotide variant	NM_000918.4(P4HB):c.1244A>G (p.Lys415Arg)	not provided [RCV003855500]	uncertain significance	17	81845676	81845676	Human		name
405740126	CV3371361	single nucleotide variant	NM_000918.4(P4HB):c.1282A>G (p.Thr428Ala)	Inborn genetic diseases [RCV004497610]	uncertain significance	17	81845638	81845638	Human	1	name
405740131	CV3371362	single nucleotide variant	NM_000918.4(P4HB):c.1430G>C (p.Gly477Ala)	Inborn genetic diseases [RCV004497611]	uncertain significance	17	81845160	81845160	Human	1	name
407505934	CV3496090	single nucleotide variant	NM_000918.4(P4HB):c.1453G>T (p.Glu485Ter)	not provided [RCV004697930]	uncertain significance	17	81844086	81844086	Human		name
408365730	CV3509269	single nucleotide variant	NM_000918.4(P4HB):c.1150G>T (p.Glu384Ter)	P4HB-related disorder [RCV004755201]	uncertain significance	17	81845898	81845898	Human		name , trait , alternate_id
597702383	CV3578229	single nucleotide variant	NM_000918.4(P4HB):c.1034G>A (p.Arg345His)	Inborn genetic diseases [RCV004956817]\|not provided [RCV005107663]	uncertain significance	17	81846451	81846451	Human	1	name
597871675	CV3750054	single nucleotide variant	NM_000918.4(P4HB):c.1250A>G (p.His417Arg)	not provided [RCV005068735]	uncertain significance	17	81845670	81845670	Human		name
597934525	CV3750494	single nucleotide variant	NM_000918.4(P4HB):c.1417G>A (p.Gly473Ser)	not provided [RCV005076419]	uncertain significance	17	81845173	81845173	Human		name
597942349	CV3779894	single nucleotide variant	NM_000918.4(P4HB):c.1220G>A (p.Trp407Ter)	not provided [RCV005118903]	uncertain significance	17	81845700	81845700	Human		name
597900134	CV3796520	single nucleotide variant	NM_000918.4(P4HB):c.1012A>G (p.Arg338Gly)	not provided [RCV005152603]	uncertain significance	17	81846473	81846473	Human		name
597957580	CV3800438	single nucleotide variant	NM_000918.4(P4HB):c.1356G>T (p.Arg452Ser)	not provided [RCV005137530]	uncertain significance	17	81845564	81845564	Human		name
597863110	CV3813573	single nucleotide variant	NM_000918.4(P4HB):c.1382G>A (p.Arg461His)	not provided [RCV005146835]	uncertain significance	17	81845208	81845208	Human		name
597951722	CV3815391	single nucleotide variant	NM_000918.4(P4HB):c.1087G>A (p.Asp363Asn)	not provided [RCV005161341]	uncertain significance	17	81845961	81845961	Human		name
597972309	CV3829568	single nucleotide variant	NM_000918.4(P4HB):c.1082C>T (p.Pro361Leu)	not provided [RCV005167355]	uncertain significance	17	81845966	81845966	Human		name
597934380	CV3845060	single nucleotide variant	NM_000918.4(P4HB):c.1033C>T (p.Arg345Cys)	not provided [RCV005186373]	uncertain significance	17	81846452	81846452	Human		name
597943372	CV3847661	single nucleotide variant	NM_000918.4(P4HB):c.1466A>C (p.Glu489Ala)	not provided [RCV005188389]	uncertain significance	17	81844073	81844073	Human		name
597896696	CV3854094	single nucleotide variant	NM_000918.4(P4HB):c.1483A>G (p.Met495Val)	not provided [RCV005201378]	uncertain significance	17	81844056	81844056	Human		name
597896705	CV3854095	single nucleotide variant	NM_000918.4(P4HB):c.1294G>A (p.Val432Met)	not provided [RCV005201379]	uncertain significance	17	81845626	81845626	Human		name
598208834	CV4007781	single nucleotide variant	NM_000918.4(P4HB):c.1069A>G (p.Ser357Gly)	Cole-Carpenter syndrome 1 [RCV005400095]	uncertain significance	17	81845979	81845979	Human	1	name
12905992	CV413482	single nucleotide variant	NM_000918.4(P4HB):c.1199G>A (p.Cys400Tyr)	not provided [RCV000488283]	uncertain significance	17	81845721	81845721	Human		name
40816180	CV858288	single nucleotide variant	NM_000918.4(P4HB):c.1200C>G (p.Cys400Trp)	Cole-Carpenter syndrome [RCV001260283]	uncertain significance	17	81845720	81845720	Human	1	name
38463221	CV919783	single nucleotide variant	NM_000918.4(P4HB):c.1148A>T (p.Asp383Val)	Cole-Carpenter syndrome 1 [RCV001198907]	uncertain significance	17	81845900	81845900	Human	1	name
150442542	CV1266248	insertion	NM_000918.4(P4HB):c.624+308_624+309insAGAC	not provided [RCV001690684]	benign	17	81854833	81854834	Human		name
151884523	CV1432521	microsatellite	NM_000918.4(P4HB):c.362_363del (p.Glu121fs)	not provided [RCV002000293]	uncertain significance	17	81855576	81855577	Human		name
156061028	CV2008263	microsatellite	NM_000918.4(P4HB):c.1495GAT[1] (p.Asp500del)	not provided [RCV002705386]	uncertain significance	17	81844039	81844041	Human		name
156237566	CV2183805	inversion	NM_000918.4(P4HB):c.1365_1366inv (p.Asp456Asn)	not provided [RCV003059540]	likely benign	17	81845224	81845225	Human		name
156438310	CV2401537	indel	NM_000918.4(P4HB):c.1199_1200delinsTT (p.Cys400Phe)	Cole-Carpenter syndrome 1 [RCV003108241]	uncertain significance	17	81845720	81845721	Human		name

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