Wdr45 Variant Search Result - Rat Genome Database

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583 records found for search term Wdr45

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150413981	CV1199492	single nucleotide variant	NM_007075.4(WDR45):c.-467A>G	not provided [RCV001574790]	likely benign	X	49101149	49101149	Human		name
150431527	CV1206379	single nucleotide variant	NM_007075.4(WDR45):c.-140G>A	not provided [RCV001581028]	likely benign	X	49100327	49100327	Human		name
12846094	CV379315	single nucleotide variant	NM_007075.4(WDR45):c.-363A>T	not specified [RCV000441005]	likely benign	X	49100550	49100550	Human		name
12846300	CV379316	single nucleotide variant	NM_007075.4(WDR45):c.-385G>C	not specified [RCV000441389]	benign\|likely benign	X	49101067	49101067	Human		name
13539793	CV508155	single nucleotide variant	NM_007075.4(WDR45):c.-372T>C	not specified [RCV000613762]	likely benign	X	49101054	49101054	Human		name
12839216	CV378364	single nucleotide variant	NM_001029896.2(WDR45):c.*19T>A	not specified [RCV000428401]	likely benign	X	49074784	49074784	Human		name
13538283	CV508592	single nucleotide variant	NM_001029896.2(WDR45):c.-12C>T	not specified [RCV000611605]	likely benign	X	49078107	49078107	Human		name
150442513	CV1233711	single nucleotide variant	NM_001029896.2(WDR45):c.131-40=	not provided [RCV001645399]	benign	X	49077787	49077787	Human		name
156359592	CV2184021	duplication	NM_001029896.2(WDR45):c.56-8dup	Neurodegeneration with brain iron accumulation 5 [RCV003048926]	likely benign	X	49077918	49077919	Human	1	name
597882681	CV3784137	single nucleotide variant	NM_001029896.2(WDR45):c.56-3C>T	Neurodegeneration with brain iron accumulation 5 [RCV005124425]	uncertain significance	X	49077914	49077914	Human	1	name
616933608	CV4013512	single nucleotide variant	NM_001029896.2(WDR45):c.56-1G>A	Neurodegeneration with brain iron accumulation 5 [RCV005411074]	pathogenic	X	49077912	49077912	Human	1	name
13525093	CV508295	microsatellite	NM_007075.4(WDR45):c.-50GAAA[1]	not specified [RCV000602685]	likely benign	X	49100230	49100233	Human		name
14706647	CV653535	single nucleotide variant	NM_001029896.2(WDR45):c.56-2A>G	Neurodegeneration with brain iron accumulation 5 [RCV000804443]	pathogenic\|likely pathogenic	X	49077913	49077913	Human	1	name
126771374	CV1014992	single nucleotide variant	NM_001029896.2(WDR45):c.974-2A>G	Neurodegeneration with brain iron accumulation 5 [RCV001323126]	likely pathogenic\|uncertain significance	X	49074914	49074914	Human	1	name
126725940	CV1019001	single nucleotide variant	NM_001029896.2(WDR45):c.235+5G>A	Neurodegeneration with brain iron accumulation 5 [RCV001331686]	conflicting interpretations of pathogenicity\|uncertain significance	X	49077638	49077638	Human	1	name
127254427	CV1086729	single nucleotide variant	NM_001029896.2(WDR45):c.974-7C>T	Neurodegeneration with brain iron accumulation 5 [RCV001418557]	likely benign	X	49074919	49074919	Human	1	name
127247328	CV1086731	single nucleotide variant	NM_001029896.2(WDR45):c.828-9T>C	Neurodegeneration with brain iron accumulation 5 [RCV001399117]	likely benign	X	49075290	49075290	Human	1	name
127260671	CV1086733	single nucleotide variant	NM_001029896.2(WDR45):c.517-6C>T	Neurodegeneration with brain iron accumulation 5 [RCV001420095]	likely benign	X	49075759	49075759	Human	1	name
127242959	CV1108427	single nucleotide variant	NM_001029896.2(WDR45):c.827+8C>A	Neurodegeneration with brain iron accumulation 5 [RCV001423847]	likely benign	X	49075356	49075356	Human	1	name
127264108	CV1108430	single nucleotide variant	NM_001029896.2(WDR45):c.130+8G>T	Neurodegeneration with brain iron accumulation 5 [RCV001428753]	likely benign	X	49077829	49077829	Human	1	name
127314394	CV1150834	single nucleotide variant	NM_001029896.2(WDR45):c.342-8A>G	Neurodegeneration with brain iron accumulation 5 [RCV001502477]	likely benign	X	49076532	49076532	Human	1	name
127308104	CV1159703	single nucleotide variant	NM_001029896.2(WDR45):c.436+7G>A	Neurodegeneration with brain iron accumulation 5 [RCV001517358]	benign	X	49076423	49076423	Human	1	name
127315335	CV1159706	single nucleotide variant	NM_001029896.2(WDR45):c.131-8C>A	Neurodegeneration with brain iron accumulation 5 [RCV001519963]	benign	X	49077755	49077755	Human	1	name
150337524	CV1166464	deletion	NM_001029896.2(WDR45):c.130+1del	not provided [RCV001532679]	pathogenic	X	49077836	49077836	Human		name
150422844	CV1182133	single nucleotide variant	NM_001029896.2(WDR45):c.436+2T>C	not provided [RCV001553197]	pathogenic	X	49076428	49076428	Human		name
150428915	CV1189121	single nucleotide variant	NM_001029896.2(WDR45):c.436+5G>C	Neurodegeneration with brain iron accumulation 5 [RCV002568421]\|not provided [RCV001562896]	likely pathogenic\|uncertain significance	X	49076425	49076425	Human	1	name
150545476	CV1315614	single nucleotide variant	NM_001029896.2(WDR45):c.828-2A>C	Neurodegeneration with brain iron accumulation 5 [RCV001784033]	likely pathogenic	X	49075283	49075283	Human	1	name
151234876	CV1320588	single nucleotide variant	NM_001029896.2(WDR45):c.828-3C>A	Neurodegeneration with brain iron accumulation 5 [RCV001800212]	uncertain significance	X	49075284	49075284	Human	1	name
151354050	CV1327602	single nucleotide variant	NM_001029896.2(WDR45):c.342-3C>G	Neurodegeneration with brain iron accumulation 5 [RCV003738102]\|not provided [RCV001817546]	pathogenic\|likely pathogenic	X	49076527	49076527	Human	1	name
151793899	CV1372576	single nucleotide variant	NM_001029896.2(WDR45):c.130+2T>C	Neurodegeneration with brain iron accumulation 5 [RCV001973305]	likely pathogenic	X	49077835	49077835	Human	1	name
151843746	CV1381236	single nucleotide variant	NM_001029896.2(WDR45):c.130+5G>A	Neurodegeneration with brain iron accumulation 5 [RCV001881675]	uncertain significance	X	49077832	49077832	Human	1	name
151774066	CV1440036	single nucleotide variant	NM_001029896.2(WDR45):c.437-4C>G	Neurodegeneration with brain iron accumulation 5 [RCV001874729]	likely benign\|uncertain significance	X	49075949	49075949	Human	1	name
151832075	CV1487924	single nucleotide variant	NM_001029896.2(WDR45):c.973+6T>C	Neurodegeneration with brain iron accumulation 5 [RCV001955773]	uncertain significance	X	49075130	49075130	Human	1	name
151765607	CV1517255	single nucleotide variant	NM_001029896.2(WDR45):c.725+1G>T	Neurodegeneration with brain iron accumulation 5 [RCV002024856]	likely pathogenic	X	49075544	49075544	Human	1	name
152162136	CV1543879	single nucleotide variant	NM_001029896.2(WDR45):c.437-5C>T	Neurodegeneration with brain iron accumulation 5 [RCV002159827]	likely benign	X	49075950	49075950	Human	1	name
152109430	CV1556591	single nucleotide variant	NM_001029896.2(WDR45):c.516+8G>A	Neurodegeneration with brain iron accumulation 5 [RCV002096642]\|not provided [RCV004704742]	likely benign	X	49075858	49075858	Human	1	name
152090051	CV1593976	single nucleotide variant	NM_001029896.2(WDR45):c.974-5C>T	Neurodegeneration with brain iron accumulation 5 [RCV002171704]	likely benign	X	49074917	49074917	Human	1	name
152100910	CV1606793	single nucleotide variant	NM_001029896.2(WDR45):c.516+7C>T	Neurodegeneration with brain iron accumulation 5 [RCV002195535]	likely benign	X	49075859	49075859	Human	1	name
152979961	CV1678312	single nucleotide variant	NM_001029896.2(WDR45):c.130+1G>C	Neurodegeneration with brain iron accumulation 5 [RCV002246817]	pathogenic	X	49077836	49077836	Human	1	name
243049998	CV1696681	single nucleotide variant	NM_001029896.2(WDR45):c.236-1G>T	Optic atrophy 2 [RCV003147747]	likely pathogenic	X	49076751	49076751	Human	1	name
155798564	CV1860702	single nucleotide variant	NM_001029896.2(WDR45):c.726-1G>A	not provided [RCV002467345]	pathogenic	X	49075466	49075466	Human		name
156172032	CV1867124	single nucleotide variant	NM_001029896.2(WDR45):c.436+2T>G	not provided [RCV002508676]	pathogenic	X	49076428	49076428	Human		name
155944664	CV1935544	single nucleotide variant	NM_001029896.2(WDR45):c.827+3G>C	not provided [RCV002511291]	likely pathogenic	X	49075361	49075361	Human		name
155981019	CV1972422	single nucleotide variant	NM_001029896.2(WDR45):c.236-7C>T	Neurodegeneration with brain iron accumulation 5 [RCV002617601]	likely benign	X	49076757	49076757	Human	1	name
156326496	CV2054164	single nucleotide variant	NM_001029896.2(WDR45):c.828-2A>G	Neurodegeneration with brain iron accumulation 5 [RCV002810424]	likely pathogenic	X	49075283	49075283	Human	1	name
10406790	CV209076	single nucleotide variant	NM_001029896.2(WDR45):c.516+1G>T	Neurodegeneration with brain iron accumulation 5 [RCV000194153]	pathogenic	X	49075865	49075865	Human	1	name
156049954	CV2186684	single nucleotide variant	NM_001029896.2(WDR45):c.827+5G>T	Neurodegeneration with brain iron accumulation 5 [RCV003036874]	pathogenic\|uncertain significance	X	49075359	49075359	Human	1	name
11051345	CV225806	single nucleotide variant	NM_001029896.2(WDR45):c.973+1G>A	Neurodegeneration with brain iron accumulation 5 [RCV000209935]	pathogenic\|likely pathogenic	X	49075135	49075135	Human	1	name
243057845	CV2405948	single nucleotide variant	NM_001029896.2(WDR45):c.130+1G>T	Neurodegeneration with brain iron accumulation 5 [RCV003134786]	likely pathogenic	X	49077836	49077836	Human	1	name
243052199	CV2417776	single nucleotide variant	NM_001029896.2(WDR45):c.437-2A>T	Neurodegeneration with brain iron accumulation 5 [RCV003152840]	likely pathogenic	X	49075947	49075947	Human	1	name
329848824	CV2523572	single nucleotide variant	NM_001029896.2(WDR45):c.516+2T>C	not provided [RCV003225586]	pathogenic	X	49075864	49075864	Human		name
11560160	CV260331	single nucleotide variant	NM_001029896.2(WDR45):c.827+1G>A	Neurodegeneration with brain iron accumulation 5 [RCV000578469]\|Neurodegeneration with brain iron accumulation [RCV000845069]\|not provided [RCV000255829]	pathogenic\|not provided	X	49075363	49075363	Human	2	name
11633913	CV265108	single nucleotide variant	NM_001029896.2(WDR45):c.437-2A>G	Neurodegeneration with brain iron accumulation 5 [RCV005090332]\|not provided [RCV000380857]	pathogenic	X	49075947	49075947	Human	1	name
401720030	CV2735608	single nucleotide variant	NM_001029896.2(WDR45):c.516+5G>A	Neurodegeneration with brain iron accumulation 5 [RCV003311579]	likely pathogenic	X	49075861	49075861	Human	1	name
402511713	CV2858421	single nucleotide variant	NM_001029896.2(WDR45):c.974-4C>T	Neurodegeneration with brain iron accumulation 5 [RCV003575158]	likely benign	X	49074916	49074916	Human	1	name
405023796	CV2876974	single nucleotide variant	NM_001029896.2(WDR45):c.726-8T>C	Neurodegeneration with brain iron accumulation 5 [RCV003577810]	likely benign	X	49075473	49075473	Human	1	name
402497512	CV2899153	single nucleotide variant	NM_001029896.2(WDR45):c.131-9C>T	Neurodegeneration with brain iron accumulation 5 [RCV003573567]	benign	X	49077756	49077756	Human	1	name
402497233	CV2906020	single nucleotide variant	NM_001029896.2(WDR45):c.55+12T>C	Neurodegeneration with brain iron accumulation 5 [RCV003573626]	likely benign	X	49078029	49078029	Human	1	name
405245705	CV2944688	single nucleotide variant	NM_001029896.2(WDR45):c.517-8T>G	Neurodegeneration with brain iron accumulation 5 [RCV003738516]	likely benign	X	49075761	49075761	Human	1	name
405231969	CV2948848	single nucleotide variant	NM_001029896.2(WDR45):c.130+3G>A	Neurodegeneration with brain iron accumulation 5 [RCV003735063]	uncertain significance	X	49077834	49077834	Human	1	name
405232607	CV2966507	single nucleotide variant	NM_001029896.2(WDR45):c.342-6C>T	Neurodegeneration with brain iron accumulation 5 [RCV003735176]	likely benign	X	49076530	49076530	Human	1	name
405232661	CV2984415	deletion	NM_001029896.2(WDR45):c.516+1del	Neurodegeneration with brain iron accumulation 5 [RCV003735189]	pathogenic	X	49075865	49075865	Human	1	name
405233016	CV2991370	single nucleotide variant	NM_001029896.2(WDR45):c.725+6C>T	Neurodegeneration with brain iron accumulation 5 [RCV003735264]	uncertain significance	X	49075539	49075539	Human	1	name
405233295	CV3014617	single nucleotide variant	NM_001029896.2(WDR45):c.55+20G>A	Neurodegeneration with brain iron accumulation 5 [RCV003735321]	likely benign	X	49078021	49078021	Human	1	name
405036229	CV3046056	single nucleotide variant	NM_001029896.2(WDR45):c.56-11C>G	Neurodegeneration with brain iron accumulation 5 [RCV003739545]	likely benign	X	49077922	49077922	Human	1	name
405277396	CV3195488	single nucleotide variant	NM_001029896.2(WDR45):c.235+5G>C	WDR45-related disorder [RCV003904270]	likely benign	X	49077638	49077638	Human		name , trait , alternate_id
405291316	CV3222303	single nucleotide variant	NM_001029896.2(WDR45):c.725+2T>A	Neurodegeneration with brain iron accumulation 5 [RCV003985185]	pathogenic	X	49075543	49075543	Human	1	name
407475505	CV3414372	single nucleotide variant	NM_001029896.2(WDR45):c.342-2A>G	Neurodegeneration with brain iron accumulation 5 [RCV004596708]	likely pathogenic	X	49076526	49076526	Human	1	name
408383263	CV3504924	single nucleotide variant	NM_001029896.2(WDR45):c.973+5G>C	WDR45-related disorder [RCV004730484]	uncertain significance	X	49075131	49075131	Human		name , trait , alternate_id
408393930	CV3526286	single nucleotide variant	NM_001029896.2(WDR45):c.436+3G>A	Neurodegeneration with brain iron accumulation 5 [RCV004771718]	uncertain significance	X	49076427	49076427	Human	1	name
596946838	CV3548671	single nucleotide variant	NM_001029896.2(WDR45):c.973+5G>A	not provided [RCV004810499]	uncertain significance	X	49075131	49075131	Human		name
12742095	CV360698	single nucleotide variant	NM_001029896.2(WDR45):c.827+5G>A	not provided [RCV000412847]	likely pathogenic	X	49075359	49075359	Human		name
12841910	CV379313	single nucleotide variant	NM_001029896.2(WDR45):c.131-7T>C	not specified [RCV000433430]	likely benign	X	49077754	49077754	Human		name
597960491	CV3794666	single nucleotide variant	NM_001029896.2(WDR45):c.516+5G>T	Neurodegeneration with brain iron accumulation 5 [RCV005138571]	pathogenic	X	49075861	49075861	Human	1	name
12849279	CV380069	single nucleotide variant	NM_001029896.2(WDR45):c.436+5G>A	Neurodegeneration with brain iron accumulation 5 [RCV001303363]\|not provided [RCV000427230]	likely pathogenic\|uncertain significance	X	49076425	49076425	Human	1	name
12848237	CV380071	single nucleotide variant	NM_001029896.2(WDR45):c.56-12T>A	not specified [RCV000444925]	likely benign	X	49077923	49077923	Human		name
598201253	CV3892762	single nucleotide variant	NM_001029896.2(WDR45):c.974-3C>G	not provided [RCV005254595]	uncertain significance	X	49074915	49074915	Human		name
617149812	CV4017347	single nucleotide variant	NM_001029896.2(WDR45):c.828-1G>C	not provided [RCV005417004]	pathogenic	X	49075282	49075282	Human		name
13500843	CV471614	single nucleotide variant	NM_001029896.2(WDR45):c.437-2A>C	Neurodegeneration with brain iron accumulation 5 [RCV000538621]	pathogenic	X	49075947	49075947	Human	1	name
13468361	CV471898	deletion	NM_001029896.2(WDR45):c.974-9del	Neurodegeneration with brain iron accumulation 5 [RCV000558234]	benign	X	49074921	49074921	Human	1	name
13613234	CV514280	single nucleotide variant	NM_001029896.2(WDR45):c.974-1G>A	Neurodegeneration with brain iron accumulation 5 [RCV000627053]	pathogenic\|likely pathogenic	X	49074913	49074913	Human	1	name
13622930	CV534835	single nucleotide variant	NM_001029896.2(WDR45):c.131-2A>G	Neurodegeneration with brain iron accumulation 5 [RCV000650354]\|not provided [RCV004723034]	pathogenic\|likely pathogenic	X	49077749	49077749	Human	1	name
13608996	CV535360	single nucleotide variant	NM_001029896.2(WDR45):c.516+1G>A	Neurodegeneration with brain iron accumulation 5 [RCV000689103]\|not provided [RCV000656299]	pathogenic	X	49075865	49075865	Human	1	name
13821299	CV572515	single nucleotide variant	NM_001029896.2(WDR45):c.827+1G>C	Neurodegeneration with brain iron accumulation 5 [RCV000695691]\|not provided [RCV001585635]	pathogenic	X	49075363	49075363	Human	1	name
14698990	CV623593	single nucleotide variant	NM_001029896.2(WDR45):c.341+4A>C	Neurodegeneration with brain iron accumulation 5 [RCV000787276]	likely pathogenic	X	49076641	49076641	Human	1	name
14704392	CV653458	duplication	NM_001029896.2(WDR45):c.827+2dup	Neurodegeneration with brain iron accumulation 5 [RCV000797274]\|not provided [RCV003225123]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	49075361	49075362	Human	1	name
14703065	CV653464	single nucleotide variant	NM_001029896.2(WDR45):c.437-3T>G	Neurodegeneration with brain iron accumulation 5 [RCV000791938]	likely pathogenic	X	49075948	49075948	Human	1	name
14709488	CV653526	single nucleotide variant	NM_001029896.2(WDR45):c.437-6C>A	Neurodegeneration with brain iron accumulation 5 [RCV000812124]	uncertain significance	X	49075951	49075951	Human	1	name
14710937	CV653717	single nucleotide variant	NM_001029896.2(WDR45):c.517-2A>G	Neurodegeneration with brain iron accumulation 5 [RCV000816156]	pathogenic	X	49075755	49075755	Human	1	name
14703026	CV654153	single nucleotide variant	NM_001029896.2(WDR45):c.437-1G>A	Neurodegeneration with brain iron accumulation 5 [RCV000825010]	pathogenic\|likely pathogenic	X	49075946	49075946	Human	1	name
14742514	CV670943	single nucleotide variant	NM_001029896.2(WDR45):c.974-4C>A	Neurodegeneration with brain iron accumulation 5 [RCV002067533]\|not provided [RCV000841443]	benign\|likely benign	X	49074916	49074916	Human	1	name
14978453	CV677472	single nucleotide variant	NM_001029896.2(WDR45):c.342-2A>C	Neurodegeneration with brain iron accumulation 5 [RCV000850624]	pathogenic	X	49076526	49076526	Human	1	name
21073712	CV792467	single nucleotide variant	NM_001029896.2(WDR45):c.827+1G>T	Neurodegeneration with brain iron accumulation 5 [RCV000990817]	pathogenic\|likely pathogenic	X	49075363	49075363	Human	1	name
21073715	CV792469	single nucleotide variant	NM_001029896.2(WDR45):c.235+2T>G	Neurodegeneration with brain iron accumulation 5 [RCV000990819]	pathogenic	X	49077641	49077641	Human	1	name
26899476	CV852521	single nucleotide variant	NM_001029896.2(WDR45):c.828-6C>T	Neurodegeneration with brain iron accumulation 5 [RCV001049245]	likely benign\|uncertain significance	X	49075287	49075287	Human	1	name
28884011	CV860890	single nucleotide variant	NM_001029896.2(WDR45):c.235+1G>A	Neurodegeneration with brain iron accumulation 5 [RCV001214756]\|not provided [RCV001091504]	pathogenic	X	49077642	49077642	Human	1	name
38456613	CV940564	single nucleotide variant	NM_001029896.2(WDR45):c.827+5G>C	Neurodegeneration with brain iron accumulation 5 [RCV001210870]	pathogenic\|likely pathogenic	X	49075359	49075359	Human	1	name
38487830	CV941311	single nucleotide variant	NM_001029896.2(WDR45):c.437-6C>G	Neurodegeneration with brain iron accumulation 5 [RCV001220908]\|not provided [RCV003326556]	uncertain significance	X	49075951	49075951	Human	1	name
40886903	CV974384	single nucleotide variant	NM_001029896.2(WDR45):c.235+2T>C	Inborn genetic diseases [RCV001266218]	pathogenic	X	49077641	49077641	Human	1	name
127238200	CV1086730	single nucleotide variant	NM_001029896.2(WDR45):c.974-10C>G	Neurodegeneration with brain iron accumulation 5 [RCV001397280]	likely benign	X	49074922	49074922	Human	1	name
127281631	CV1086734	single nucleotide variant	NM_001029896.2(WDR45):c.437-10C>T	Neurodegeneration with brain iron accumulation 5 [RCV001410609]	likely benign	X	49075955	49075955	Human	1	name
127290640	CV1159701	duplication	NM_001029896.2(WDR45):c.974-15dup	Neurodegeneration with brain iron accumulation 5 [RCV001509926]	benign	X	49074920	49074921	Human	1	name
127322916	CV1159702	single nucleotide variant	NM_001029896.2(WDR45):c.436+10C>T	Neurodegeneration with brain iron accumulation 5 [RCV001523735]	benign	X	49076420	49076420	Human	1	name
150491941	CV1225386	single nucleotide variant	NM_001029896.2(WDR45):c.130+43G>A	not provided [RCV001618901]	benign	X	49077794	49077794	Human		name
150468302	CV1257034	single nucleotide variant	NM_001029896.2(WDR45):c.-17-46G>A	not provided [RCV001670680]	benign	X	49078158	49078158	Human		name
151722060	CV1406588	single nucleotide variant	NM_001029896.2(WDR45):c.236-21A>G	Neurodegeneration with brain iron accumulation 5 [RCV002003820]	pathogenic\|uncertain significance	X	49076771	49076771	Human	1	name
151744387	CV1408751	single nucleotide variant	NM_001029896.2(WDR45):c.235+19C>G	Neurodegeneration with brain iron accumulation 5 [RCV002042567]	likely benign	X	49077624	49077624	Human	1	name
152142221	CV1538184	single nucleotide variant	NM_001029896.2(WDR45):c.726-12T>C	Neurodegeneration with brain iron accumulation 5 [RCV002219523]	likely benign	X	49075477	49075477	Human	1	name
152165227	CV1578341	single nucleotide variant	NM_001029896.2(WDR45):c.437-16C>G	Neurodegeneration with brain iron accumulation 5 [RCV002160408]	likely benign	X	49075961	49075961	Human	1	name
152147287	CV1615626	single nucleotide variant	NM_001029896.2(WDR45):c.341+15G>A	Neurodegeneration with brain iron accumulation 5 [RCV002101673]	likely benign	X	49076630	49076630	Human	1	name
152084800	CV1622947	single nucleotide variant	NM_001029896.2(WDR45):c.974-14C>T	Neurodegeneration with brain iron accumulation 5 [RCV002113239]	likely benign	X	49074926	49074926	Human	1	name
152090535	CV1624496	single nucleotide variant	NM_001029896.2(WDR45):c.974-15C>T	Neurodegeneration with brain iron accumulation 5 [RCV002150532]	likely benign	X	49074927	49074927	Human	1	name
152026677	CV1626563	single nucleotide variant	NM_001029896.2(WDR45):c.436+18C>T	Neurodegeneration with brain iron accumulation 5 [RCV002185239]	likely benign	X	49076412	49076412	Human	1	name
152156493	CV1629733	single nucleotide variant	NM_001029896.2(WDR45):c.341+18C>G	Neurodegeneration with brain iron accumulation 5 [RCV002202729]	likely benign	X	49076627	49076627	Human	1	name
152121158	CV1641269	single nucleotide variant	NM_001029896.2(WDR45):c.517-14C>T	Neurodegeneration with brain iron accumulation 5 [RCV002198070]	likely benign	X	49075767	49075767	Human	1	name
152060777	CV1659747	single nucleotide variant	NM_001029896.2(WDR45):c.725+10G>A	Neurodegeneration with brain iron accumulation 5 [RCV002073649]	likely benign	X	49075535	49075535	Human	1	name
152094889	CV1661549	single nucleotide variant	NM_001029896.2(WDR45):c.827+16C>T	Neurodegeneration with brain iron accumulation 5 [RCV002172318]	likely benign	X	49075348	49075348	Human	1	name
156014657	CV1876954	single nucleotide variant	NM_001029896.2(WDR45):c.437-19C>G	Neurodegeneration with brain iron accumulation 5 [RCV003077293]	benign	X	49075964	49075964	Human	1	name
156362746	CV1881403	single nucleotide variant	NM_001029896.2(WDR45):c.974-11C>G	Neurodegeneration with brain iron accumulation 5 [RCV003065736]	likely benign	X	49074923	49074923	Human	1	name
156105008	CV1907376	single nucleotide variant	NM_001029896.2(WDR45):c.974-14C>A	Neurodegeneration with brain iron accumulation 5 [RCV003080748]	benign	X	49074926	49074926	Human	1	name
156312778	CV1934641	single nucleotide variant	NM_001029896.2(WDR45):c.974-14C>G	Neurodegeneration with brain iron accumulation 5 [RCV002629875]	benign	X	49074926	49074926	Human	1	name
10052531	CV194952	single nucleotide variant	NM_001029896.2(WDR45):c.235+18G>T	Neurodegeneration with brain iron accumulation 5 [RCV001516027]\|not provided [RCV004713401]\|not specified [RCV000178922]	benign	X	49077625	49077625	Human	1	name
156138696	CV1963046	single nucleotide variant	NM_001029896.2(WDR45):c.437-18C>T	Neurodegeneration with brain iron accumulation 5 [RCV002572490]	likely benign	X	49075963	49075963	Human	1	name
156072653	CV2029003	single nucleotide variant	NM_001029896.2(WDR45):c.235+13A>G	Neurodegeneration with brain iron accumulation 5 [RCV002760367]	likely benign	X	49077630	49077630	Human	1	name
156222570	CV2037763	single nucleotide variant	NM_001029896.2(WDR45):c.236-15C>T	Neurodegeneration with brain iron accumulation 5 [RCV002790683]	likely benign	X	49076765	49076765	Human	1	name
156106140	CV2045767	single nucleotide variant	NM_001029896.2(WDR45):c.517-17C>A	Neurodegeneration with brain iron accumulation 5 [RCV002785214]	likely benign	X	49075770	49075770	Human	1	name
155938692	CV2075219	single nucleotide variant	NM_001029896.2(WDR45):c.725+12G>T	Neurodegeneration with brain iron accumulation 5 [RCV002861624]	uncertain significance	X	49075533	49075533	Human	1	name
156318171	CV2111795	single nucleotide variant	NM_001029896.2(WDR45):c.131-20A>G	Neurodegeneration with brain iron accumulation 5 [RCV002937581]	likely benign	X	49077767	49077767	Human	1	name
156016426	CV2121423	single nucleotide variant	NM_001029896.2(WDR45):c.131-17C>A	Neurodegeneration with brain iron accumulation 5 [RCV002948557]	likely benign	X	49077764	49077764	Human	1	name
155954932	CV2123769	single nucleotide variant	NM_001029896.2(WDR45):c.436+13A>C	Neurodegeneration with brain iron accumulation 5 [RCV002972070]	likely benign	X	49076417	49076417	Human	1	name
156126962	CV2124944	single nucleotide variant	NM_001029896.2(WDR45):c.130+20G>A	Neurodegeneration with brain iron accumulation 5 [RCV002953727]	likely benign	X	49077817	49077817	Human	1	name
155913728	CV2149586	single nucleotide variant	NM_001029896.2(WDR45):c.236-14C>T	Neurodegeneration with brain iron accumulation 5 [RCV003012444]	likely benign	X	49076764	49076764	Human	1	name
402518326	CV2877205	single nucleotide variant	NM_001029896.2(WDR45):c.516+17A>T	Neurodegeneration with brain iron accumulation 5 [RCV003575658]	likely benign	X	49075849	49075849	Human	1	name
405062413	CV2929228	single nucleotide variant	NM_001029896.2(WDR45):c.236-12C>G	Neurodegeneration with brain iron accumulation 5 [RCV003580436]	uncertain significance	X	49076762	49076762	Human	1	name
405232193	CV2962471	single nucleotide variant	NM_001029896.2(WDR45):c.235+10C>T	Neurodegeneration with brain iron accumulation 5 [RCV003735111]	likely benign	X	49077633	49077633	Human	1	name
405232255	CV2967412	single nucleotide variant	NM_001029896.2(WDR45):c.342-15G>A	Neurodegeneration with brain iron accumulation 5 [RCV003735125]	likely benign	X	49076539	49076539	Human	1	name
405232276	CV2974109	single nucleotide variant	NM_001029896.2(WDR45):c.974-13C>T	Neurodegeneration with brain iron accumulation 5 [RCV003735130]	likely benign	X	49074925	49074925	Human	1	name
405232705	CV2981390	single nucleotide variant	NM_001029896.2(WDR45):c.436+20C>T	Neurodegeneration with brain iron accumulation 5 [RCV003735199]	likely benign	X	49076410	49076410	Human	1	name
405192231	CV3146003	single nucleotide variant	NM_001029896.2(WDR45):c.828-15C>T	Neurodegeneration with brain iron accumulation 5 [RCV003843550]	likely benign	X	49075296	49075296	Human	1	name
407455563	CV3415600	single nucleotide variant	NM_001029896.2(WDR45):c.131-40G>A	not specified [RCV004598483]	benign	X	49077787	49077787	Human		name
597672922	CV3703360	single nucleotide variant	NM_001029896.2(WDR45):c.516+26G>A	Neurodegeneration with brain iron accumulation 5 [RCV004823552]	uncertain significance	X	49075840	49075840	Human	1	name
597970138	CV3750126	single nucleotide variant	NM_001029896.2(WDR45):c.725+11G>A	Neurodegeneration with brain iron accumulation 5 [RCV005084067]	likely benign	X	49075534	49075534	Human	1	name
12834787	CV378380	single nucleotide variant	NM_001029896.2(WDR45):c.342-11G>C	not specified [RCV000420553]	likely benign	X	49076535	49076535	Human		name
12840437	CV378386	single nucleotide variant	NM_001029896.2(WDR45):c.341+18C>T	Neurodegeneration with brain iron accumulation 5 [RCV002521846]\|not specified [RCV000430709]	likely benign	X	49076627	49076627	Human	1	name
12833310	CV380067	single nucleotide variant	NM_001029896.2(WDR45):c.827+10C>G	not specified [RCV000418259]	likely benign	X	49075354	49075354	Human		name
12843797	CV380070	single nucleotide variant	NM_001029896.2(WDR45):c.130+13C>T	Neurodegeneration with brain iron accumulation 5 [RCV002062657]\|not specified [RCV000436865]	benign	X	49077824	49077824	Human	1	name
597871975	CV3835801	single nucleotide variant	NM_001029896.2(WDR45):c.341+19G>A	Neurodegeneration with brain iron accumulation 5 [RCV005176792]	likely benign	X	49076626	49076626	Human	1	name
597963081	CV3841369	single nucleotide variant	NM_001029896.2(WDR45):c.342-18G>C	Neurodegeneration with brain iron accumulation 5 [RCV005193472]	likely benign	X	49076542	49076542	Human	1	name
597910682	CV3854285	single nucleotide variant	NM_001029896.2(WDR45):c.516+16G>A	Neurodegeneration with brain iron accumulation 5 [RCV005203555]	likely benign	X	49075850	49075850	Human	1	name
597932757	CV3862103	single nucleotide variant	NM_001029896.2(WDR45):c.437-19C>T	Neurodegeneration with brain iron accumulation 5 [RCV005206967]	likely benign	X	49075964	49075964	Human	1	name
12901543	CV411395	deletion	NM_001029896.2(WDR45):c.827+12del	Neurodegeneration with brain iron accumulation 5 [RCV002063797]\|not specified [RCV000484941]	benign\|likely benign	X	49075352	49075352	Human	1	name
13214308	CV430812	single nucleotide variant	NM_001029896.2(WDR45):c.437-27A>C	not provided [RCV004691817]\|not specified [RCV000501103]	uncertain significance	X	49075972	49075972	Human		name
13533660	CV508141	single nucleotide variant	NM_001029896.2(WDR45):c.725+20G>A	not specified [RCV000601730]	likely benign	X	49075525	49075525	Human		name
13540262	CV508151	single nucleotide variant	NM_001029896.2(WDR45):c.341+16A>T	Neurodegeneration with brain iron accumulation 5 [RCV002532800]\|not specified [RCV000614453]	likely benign\|uncertain significance	X	49076629	49076629	Human	1	name
13537712	CV508291	single nucleotide variant	NM_001029896.2(WDR45):c.-17-19T>G	not specified [RCV000610781]	likely benign	X	49078131	49078131	Human		name
13526107	CV508586	single nucleotide variant	NM_001029896.2(WDR45):c.827+19C>T	Neurodegeneration with brain iron accumulation 5 [RCV002529712]\|not specified [RCV000603677]	likely benign	X	49075345	49075345	Human	1	name
13533539	CV508587	single nucleotide variant	NM_001029896.2(WDR45):c.827+12C>T	Neurodegeneration with brain iron accumulation 5 [RCV002066585]\|not specified [RCV000607122]	likely benign	X	49075352	49075352	Human	1	name
13592636	CV508682	single nucleotide variant	NM_001029896.2(WDR45):c.-17-15C>T	not specified [RCV000605537]	likely benign	X	49078127	49078127	Human		name
14744365	CV671164	single nucleotide variant	NM_001029896.2(WDR45):c.236-18C>T	Neurodegeneration with brain iron accumulation 5 [RCV002068632]\|not provided [RCV000842715]\|not specified [RCV005408012]	benign\|likely benign	X	49076768	49076768	Human	1	name
15133879	CV776882	single nucleotide variant	NM_001029896.2(WDR45):c.974-10C>A	Neurodegeneration with brain iron accumulation 5 [RCV001513821]	benign	X	49074922	49074922	Human	1	name
150476788	CV1218532	single nucleotide variant	NM_001029896.2(WDR45):c.436+141C>G	not provided [RCV001616159]	benign	X	49076289	49076289	Human		name
150515614	CV1285601	single nucleotide variant	NM_001029896.2(WDR45):c.436+199G>C	not provided [RCV001723054]	benign	X	49076231	49076231	Human		name
151232542	CV1316830	single nucleotide variant	NM_001029896.2(WDR45):c.235+364C>T	not provided [RCV001786650]	likely benign	X	49077279	49077279	Human		name
14726229	CV671067	single nucleotide variant	NM_001029896.2(WDR45):c.235+197T>G	not provided [RCV000833778]	benign	X	49077446	49077446	Human		name
21070690	CV798323	single nucleotide variant	NM_001029896.2(WDR45):c.235+159C>G	Neurodegeneration with brain iron accumulation 5 [RCV003890154]\|not provided [RCV000999423]	pathogenic\|likely pathogenic	X	49077484	49077484	Human	1	name
150425778	CV1185819	deletion	NM_001029896.2(WDR45):c.340_341+2del	not provided [RCV001558462]	pathogenic	X	49076643	49076646	Human		name
12832783	CV362749	deletion	NM_001029896.2(WDR45):c.55+2_55+3del	Neurodegeneration with brain iron accumulation 5 [RCV000417260]	pathogenic	X	49078038	49078039	Human	1	name
13794476	CV552261	deletion	NM_001029896.2(WDR45):c.131-11_145del	X-linked cerebral-cerebellar-coloboma syndrome syndrome [RCV000679878]	pathogenic	X	49077733	49077758	Human	1	name
10408579	CV209075	deletion	NM_001029896.2(WDR45):c.827+2_827+3del	Neurodegeneration with brain iron accumulation 5 [RCV000195151]	pathogenic	X	49075361	49075362	Human	1	name
405233331	CV3008312	deletion	NM_001029896.2(WDR45):c.973+1_973+3del	Neurodegeneration with brain iron accumulation 5 [RCV003735329]	likely pathogenic	X	49075133	49075135	Human	1	name
13509380	CV481508	microsatellite	NM_001029896.2(WDR45):c.516+1_516+3del	Neurodegeneration with brain iron accumulation 5 [RCV000578306]\|not provided [RCV005091452]	pathogenic\|likely pathogenic	X	49075863	49075865	Human		name
127251174	CV1056791	deletion	NM_001029896.2(WDR45):c.726-17_726-6del	Neurodegeneration with brain iron accumulation 5 [RCV001378504]	likely pathogenic	X	49075471	49075482	Human	1	name
405233562	CV3014206	deletion	NM_001029896.2(WDR45):c.725+5_725+32del	Neurodegeneration with brain iron accumulation 5 [RCV003735387]	uncertain significance	X	49075513	49075540	Human	1	name
13829999	CV580939	deletion	NM_001029896.2(WDR45):c.973+5_973+10del	Inborn genetic diseases [RCV002318789]	likely pathogenic\|uncertain significance	X	49075126	49075131	Human	1	name
127286513	CV1150836	single nucleotide variant	NM_001029896.2(WDR45):c.99C>T (p.Asn33=)	Neurodegeneration with brain iron accumulation 5 [RCV001494316]\|WDR45-related disorder [RCV003980429]\|not specified [RCV001820195]	likely benign	X	49077868	49077868	Human	1	name , trait , alternate_id
127293064	CV1150838	single nucleotide variant	NM_001029896.2(WDR45):c.34C>T (p.Leu12=)	Neurodegeneration with brain iron accumulation 5 [RCV001496648]	likely benign	X	49078062	49078062	Human	1	name
152053854	CV1619546	single nucleotide variant	NM_001029896.2(WDR45):c.5C>T (p.Thr2Ile)	Neurodegeneration with brain iron accumulation 5 [RCV002167196]	likely benign\|conflicting interpretations of pathogenicity	X	49078091	49078091	Human	1	name
153345680	CV1691318	single nucleotide variant	NM_001029896.2(WDR45):c.2T>C (p.Met1Thr)	Neurodegeneration with brain iron accumulation 5 [RCV002272799]\|not provided [RCV003222411]	pathogenic	X	49078094	49078094	Human	1	name
156046524	CV2216094	deletion	NM_001029896.2(WDR45):c.14del (p.Pro5fs)	Inborn genetic diseases [RCV002692596]	pathogenic	X	49078082	49078082	Human	1	name
401828185	CV2744555	single nucleotide variant	NM_001029896.2(WDR45):c.3G>T (p.Met1Ile)	not provided [RCV003327953]	pathogenic	X	49078093	49078093	Human		name
402511614	CV2854687	single nucleotide variant	NM_001029896.2(WDR45):c.90C>T (p.Arg30=)	Neurodegeneration with brain iron accumulation 5 [RCV003575149]	likely benign	X	49077877	49077877	Human	1	name
405233529	CV3014113	indel	NM_001029896.2(WDR45):c.234_235+1delinsC	Neurodegeneration with brain iron accumulation 5 [RCV003735378]	likely pathogenic	X	49077642	49077644	Human		name
597896661	CV3773776	single nucleotide variant	NM_001029896.2(WDR45):c.5C>G (p.Thr2Ser)	Neurodegeneration with brain iron accumulation 5 [RCV005111497]	uncertain significance	X	49078091	49078091	Human	1	name
14395643	CV611452	single nucleotide variant	NM_001029896.2(WDR45):c.2T>A (p.Met1Lys)	Neurodegeneration with brain iron accumulation 5 [RCV000760207]\|not provided [RCV000999424]	pathogenic\|likely pathogenic	X	49078094	49078094	Human	1	name
15149783	CV729629	single nucleotide variant	NM_001029896.2(WDR45):c.69C>T (p.Cys23=)	Neurodegeneration with brain iron accumulation 5 [RCV000879239]\|not provided [RCV003438550]	likely benign	X	49077898	49077898	Human	1	name
40814579	CV969518	single nucleotide variant	NM_001029896.2(WDR45):c.1A>G (p.Met1Val)	Intellectual disability [RCV001260829]\|Neurodegeneration with brain iron accumulation 5 [RCV001879996]\|not provided [RCV004783938]	pathogenic\|likely pathogenic\|uncertain significance	X	49078095	49078095	Human	3	name
127232299	CV1086738	single nucleotide variant	NM_001029896.2(WDR45):c.22G>A (p.Gly8Arg)	Neurodegeneration with brain iron accumulation 5 [RCV001413386]	likely benign	X	49078074	49078074	Human	1	name
127239090	CV1108429	single nucleotide variant	NM_001029896.2(WDR45):c.231C>T (p.Ile77=)	Neurodegeneration with brain iron accumulation 5 [RCV001433905]	likely benign	X	49077647	49077647	Human	1	name
127316329	CV1129811	single nucleotide variant	NM_001029896.2(WDR45):c.192C>T (p.Ala64=)	Neurodegeneration with brain iron accumulation 5 [RCV001465511]	likely benign	X	49077686	49077686	Human	1	name
127294361	CV1150835	single nucleotide variant	NM_001029896.2(WDR45):c.285G>A (p.Leu95=)	Neurodegeneration with brain iron accumulation 5 [RCV001496965]	likely benign	X	49076701	49076701	Human	1	name
127313400	CV1159705	single nucleotide variant	NM_001029896.2(WDR45):c.249C>T (p.Asp83=)	Neurodegeneration with brain iron accumulation 5 [RCV001519232]	benign	X	49076737	49076737	Human	1	name
151661989	CV1332833	duplication	NM_007075.4(WDR45):c.-367-184_-367-175dup	not provided [RCV001837080]	benign	X	49100728	49100729	Human		name
152154845	CV1556570	single nucleotide variant	NM_001029896.2(WDR45):c.255C>T (p.Ala85=)	Neurodegeneration with brain iron accumulation 5 [RCV002122272]	likely benign	X	49076731	49076731	Human	1	name
156219416	CV1899670	deletion	NM_001029896.2(WDR45):c.64del (p.Cys22fs)	Neurodegeneration with brain iron accumulation 5 [RCV003084933]	pathogenic	X	49077903	49077903	Human	1	name
156309189	CV1924976	single nucleotide variant	NM_001029896.2(WDR45):c.283C>T (p.Leu95=)	Neurodegeneration with brain iron accumulation 5 [RCV002629659]\|not provided [RCV005256887]	likely benign	X	49076703	49076703	Human	1	name
155934244	CV2064301	single nucleotide variant	NM_001029896.2(WDR45):c.156C>T (p.Gly52=)	Neurodegeneration with brain iron accumulation 5 [RCV002861321]	likely benign	X	49077722	49077722	Human	1	name
156317057	CV2137786	single nucleotide variant	NM_001029896.2(WDR45):c.240G>A (p.Leu80=)	Neurodegeneration with brain iron accumulation 5 [RCV002962965]	likely benign	X	49076746	49076746	Human	1	name
156046075	CV2157819	single nucleotide variant	NM_001029896.2(WDR45):c.14C>T (p.Pro5Leu)	Neurodegeneration with brain iron accumulation 5 [RCV003019236]	uncertain significance	X	49078082	49078082	Human	1	name
11632639	CV265026	single nucleotide variant	NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter)	Global developmental delay [RCV001255400]\|Inborn genetic diseases [RCV000624584]\|Neurodegeneration with brain iron accumulation 5 [RCV000705613]\|Neurodegeneration with brain iron accumulation 5 [RCV003883145]\|not provided [RCV000272581]	pathogenic	X	49078077	49078077	Human	4	name
405234132	CV3054134	single nucleotide variant	NM_001029896.2(WDR45):c.282G>A (p.Lys94=)	Neurodegeneration with brain iron accumulation 5 [RCV003735531]	likely benign	X	49076704	49076704	Human	1	name
404995743	CV3172823	single nucleotide variant	NM_001029896.2(WDR45):c.256C>A (p.Arg86=)	Neurodegeneration with brain iron accumulation 5 [RCV003882105]	likely benign	X	49076730	49076730	Human	1	name
597898249	CV3782535	deletion	NM_001029896.2(WDR45):c.34del (p.Leu12fs)	Neurodegeneration with brain iron accumulation 5 [RCV005126760]	pathogenic	X	49078062	49078062	Human	1	name
12843923	CV379434	single nucleotide variant	NM_001029896.2(WDR45):c.135C>T (p.His45=)	Neurodegeneration with brain iron accumulation 5 [RCV002059849]\|not specified [RCV000437090]	likely benign	X	49077743	49077743	Human	1	name
597944558	CV3847911	single nucleotide variant	NM_001029896.2(WDR45):c.225A>G (p.Ser75=)	Neurodegeneration with brain iron accumulation 5 [RCV005188641]	likely benign	X	49077653	49077653	Human	1	name
597877766	CV3860306	single nucleotide variant	NM_001029896.2(WDR45):c.243C>A (p.Ile81=)	Neurodegeneration with brain iron accumulation 5 [RCV005198515]	likely benign	X	49076743	49076743	Human	1	name
15192510	CV706254	single nucleotide variant	NM_001029896.2(WDR45):c.20G>A (p.Arg7Gln)	Neurodegeneration with brain iron accumulation 5 [RCV000955092]\|WDR45-related disorder [RCV003960659]\|not provided [RCV001532680]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	49078076	49078076	Human	1	name , trait , alternate_id
15168939	CV729628	single nucleotide variant	NM_001029896.2(WDR45):c.117G>A (p.Glu39=)	Neurodegeneration with brain iron accumulation 5 [RCV005092620]	likely benign	X	49077850	49077850	Human	1	name
15131893	CV786857	single nucleotide variant	NM_001029896.2(WDR45):c.261G>A (p.Glu87=)	Neurodegeneration with brain iron accumulation 5 [RCV000981287]	likely benign	X	49076725	49076725	Human	1	name
38481836	CV929760	single nucleotide variant	NM_001029896.2(WDR45):c.10C>T (p.Gln4Ter)	Neurodegeneration with brain iron accumulation 5 [RCV001218190]	pathogenic	X	49078086	49078086	Human	1	name
126754408	CV1014993	single nucleotide variant	NM_001029896.2(WDR45):c.88C>T (p.Arg30Cys)	Neurodegeneration with brain iron accumulation 5 [RCV001327502]	uncertain significance	X	49077879	49077879	Human	1	name
126771656	CV1035565	single nucleotide variant	NM_001029896.2(WDR45):c.70G>A (p.Ala24Thr)	Neurodegeneration with brain iron accumulation 5 [RCV001345172]	uncertain significance	X	49077897	49077897	Human	1	name
126921306	CV1052462	single nucleotide variant	NM_001029896.2(WDR45):c.89G>A (p.Arg30His)	Neurodegeneration with brain iron accumulation 5 [RCV001374315]\|not provided [RCV003329406]	uncertain significance	X	49077878	49077878	Human	1	name
127269687	CV1065447	deletion	NM_001029896.2(WDR45):c.209del (p.Ser70fs)	Neurodegeneration with brain iron accumulation 5 [RCV001389596]	pathogenic	X	49077669	49077669	Human	1	name
127252360	CV1086728	single nucleotide variant	NM_001029896.2(WDR45):c.978C>T (p.Ile326=)	Neurodegeneration with brain iron accumulation 5 [RCV001400336]	likely benign	X	49074908	49074908	Human	1	name
127263574	CV1086735	single nucleotide variant	NM_001029896.2(WDR45):c.387C>T (p.Pro129=)	Neurodegeneration with brain iron accumulation 5 [RCV001403040]	likely benign	X	49076479	49076479	Human	1	name
127234823	CV1086736	single nucleotide variant	NM_001029896.2(WDR45):c.333C>T (p.Arg111=)	Neurodegeneration with brain iron accumulation 5 [RCV001396501]	likely benign	X	49076653	49076653	Human	1	name
127262700	CV1108428	single nucleotide variant	NM_001029896.2(WDR45):c.336T>C (p.His112=)	Neurodegeneration with brain iron accumulation 5 [RCV001428403]	likely benign	X	49076650	49076650	Human	1	name
127299119	CV1150830	single nucleotide variant	NM_001029896.2(WDR45):c.954G>A (p.Lys318=)	Neurodegeneration with brain iron accumulation 5 [RCV001498227]	likely benign	X	49075155	49075155	Human	1	name
127317684	CV1150832	single nucleotide variant	NM_001029896.2(WDR45):c.747C>G (p.Ser249=)	Neurodegeneration with brain iron accumulation 5 [RCV001503459]	likely benign	X	49075444	49075444	Human	1	name
127331717	CV1150833	single nucleotide variant	NM_001029896.2(WDR45):c.666A>C (p.Thr222=)	Neurodegeneration with brain iron accumulation 5 [RCV001489024]	likely benign	X	49075604	49075604	Human	1	name
127309989	CV1150837	single nucleotide variant	NM_001029896.2(WDR45):c.37C>T (p.Arg13Cys)	Inborn genetic diseases [RCV004037422]\|Neurodegeneration with brain iron accumulation 5 [RCV001501204]	likely benign	X	49078059	49078059	Human	2	name
150544010	CV1310062	single nucleotide variant	NM_001029896.2(WDR45):c.38G>T (p.Arg13Leu)	not provided [RCV003238066]	uncertain significance	X	49078058	49078058	Human		name
151353050	CV1326739	deletion	NM_001029896.2(WDR45):c.227del (p.Glu76fs)	not provided [RCV001815985]	pathogenic	X	49077651	49077651	Human		name
152067271	CV1534624	single nucleotide variant	NM_001029896.2(WDR45):c.735C>T (p.Phe245=)	Neurodegeneration with brain iron accumulation 5 [RCV002110956]	likely benign	X	49075456	49075456	Human	1	name
152068962	CV1562125	single nucleotide variant	NM_001029896.2(WDR45):c.561G>A (p.Thr187=)	Neurodegeneration with brain iron accumulation 5 [RCV002169042]	likely benign	X	49075709	49075709	Human	1	name
152077351	CV1564663	single nucleotide variant	NM_001029896.2(WDR45):c.981C>T (p.Cys327=)	Neurodegeneration with brain iron accumulation 5 [RCV002192589]	benign	X	49074905	49074905	Human	1	name
152061494	CV1585279	single nucleotide variant	NM_001029896.2(WDR45):c.53A>G (p.Gln18Arg)	Neurodegeneration with brain iron accumulation 5 [RCV002073732]	likely benign	X	49078043	49078043	Human	1	name
152073587	CV1598985	single nucleotide variant	NM_001029896.2(WDR45):c.837C>T (p.Arg279=)	Neurodegeneration with brain iron accumulation 5 [RCV002148413]	likely benign	X	49075272	49075272	Human	1	name
152155810	CV1620648	single nucleotide variant	NM_001029896.2(WDR45):c.402G>A (p.Lys134=)	Neurodegeneration with brain iron accumulation 5 [RCV002122400]	likely benign	X	49076464	49076464	Human	1	name
152087886	CV1626020	single nucleotide variant	NM_001029896.2(WDR45):c.786T>C (p.His262=)	Neurodegeneration with brain iron accumulation 5 [RCV002131673]	likely benign	X	49075405	49075405	Human	1	name
152026603	CV1626530	single nucleotide variant	NM_001029896.2(WDR45):c.648T>C (p.Leu216=)	Neurodegeneration with brain iron accumulation 5 [RCV002185211]	likely benign	X	49075622	49075622	Human	1	name
153348165	CV1695214	single nucleotide variant	NM_001029896.2(WDR45):c.29C>T (p.Thr10Ile)	not provided [RCV002279145]	uncertain significance	X	49078067	49078067	Human		name
156406040	CV1894680	single nucleotide variant	NM_001029896.2(WDR45):c.345C>T (p.Ile115=)	Neurodegeneration with brain iron accumulation 5 [RCV003070213]	benign	X	49076521	49076521	Human	1	name
156018071	CV2083741	single nucleotide variant	NM_001029896.2(WDR45):c.390C>T (p.Asp130=)	Neurodegeneration with brain iron accumulation 5 [RCV002866462]	likely benign	X	49076476	49076476	Human	1	name
156242409	CV2148726	single nucleotide variant	NM_001029896.2(WDR45):c.516G>A (p.Val172=)	Neurodegeneration with brain iron accumulation 5 [RCV003008147]	uncertain significance	X	49075866	49075866	Human	1	name
156378819	CV2189363	single nucleotide variant	NM_001029896.2(WDR45):c.687G>A (p.Val229=)	Neurodegeneration with brain iron accumulation 5 [RCV003050325]	likely benign	X	49075583	49075583	Human	1	name
11560293	CV260332	single nucleotide variant	NM_001029896.2(WDR45):c.46C>T (p.Gln16Ter)	Inborn genetic diseases [RCV000624728]\|not provided [RCV000256125]	pathogenic	X	49078050	49078050	Human	1	name
11637472	CV275125	single nucleotide variant	NM_001029896.2(WDR45):c.936C>T (p.Phe312=)	Neurodegeneration with brain iron accumulation 5 [RCV000543547]\|not provided [RCV001718590]\|not specified [RCV000286525]	likely benign	X	49075173	49075173	Human	1	name
402490427	CV2866682	deletion	NM_001029896.2(WDR45):c.200del (p.Gly67fs)	Neurodegeneration with brain iron accumulation 5 [RCV003572959]	pathogenic	X	49077678	49077678	Human	1	name
405023001	CV2867529	single nucleotide variant	NM_001029896.2(WDR45):c.441C>T (p.Leu147=)	Neurodegeneration with brain iron accumulation 5 [RCV003577766]	likely benign	X	49075941	49075941	Human	1	name
405023514	CV2879225	single nucleotide variant	NM_001029896.2(WDR45):c.957C>T (p.Asn319=)	Neurodegeneration with brain iron accumulation 5 [RCV003577784]\|WDR45-related disorder [RCV003901122]	likely benign	X	49075152	49075152	Human	1	name , trait , alternate_id
402525066	CV2919441	single nucleotide variant	NM_001029896.2(WDR45):c.933C>T (p.Ala311=)	Neurodegeneration with brain iron accumulation 5 [RCV003576127]	likely benign	X	49075176	49075176	Human	1	name
405232454	CV2964843	single nucleotide variant	NM_001029896.2(WDR45):c.598C>T (p.Leu200=)	Neurodegeneration with brain iron accumulation 5 [RCV003735141]	likely benign	X	49075672	49075672	Human	1	name
405232896	CV2979926	single nucleotide variant	NM_001029896.2(WDR45):c.507G>A (p.Leu169=)	Neurodegeneration with brain iron accumulation 5 [RCV003735239]	likely benign	X	49075875	49075875	Human	1	name
405233106	CV3002273	single nucleotide variant	NM_001029896.2(WDR45):c.894G>A (p.Ala298=)	Neurodegeneration with brain iron accumulation 5 [RCV003735283]	likely benign	X	49075215	49075215	Human	1	name
405150095	CV3123225	single nucleotide variant	NM_001029896.2(WDR45):c.486G>A (p.Pro162=)	Neurodegeneration with brain iron accumulation 5 [RCV003817458]	likely benign	X	49075896	49075896	Human	1	name
597834040	CV3760509	single nucleotide variant	NM_001029896.2(WDR45):c.546G>A (p.Ser182=)	Neurodegeneration with brain iron accumulation 5 [RCV005085252]	likely benign	X	49075724	49075724	Human	1	name
597967672	CV3760701	single nucleotide variant	NM_001029896.2(WDR45):c.903T>C (p.Thr301=)	Neurodegeneration with brain iron accumulation 5 [RCV005083268]	likely benign	X	49075206	49075206	Human	1	name
597900052	CV3782969	single nucleotide variant	NM_001029896.2(WDR45):c.828G>A (p.Ala276=)	Neurodegeneration with brain iron accumulation 5 [RCV005126989]	uncertain significance	X	49075281	49075281	Human	1	name
12841217	CV378375	single nucleotide variant	NM_001029896.2(WDR45):c.567T>C (p.Asn189=)	Neurodegeneration with brain iron accumulation 5 [RCV001394456]\|not provided [RCV001721342]	likely benign	X	49075703	49075703	Human	1	name
12845747	CV378376	single nucleotide variant	NM_001029896.2(WDR45):c.351C>T (p.Ile117=)	Inborn genetic diseases [RCV002318431]\|Neurodegeneration with brain iron accumulation 5 [RCV000609933]\|not provided [RCV000714186]\|not specified [RCV000440373]	benign\|likely benign	X	49076515	49076515	Human	2	name
12838369	CV379311	single nucleotide variant	NM_001029896.2(WDR45):c.930C>T (p.Cys310=)	Neurodegeneration with brain iron accumulation 5 [RCV005090833]\|not provided [RCV005411431]\|not specified [RCV000426836]	likely benign	X	49075179	49075179	Human	1	name
12843164	CV380068	single nucleotide variant	NM_001029896.2(WDR45):c.825C>T (p.Ser275=)	Neurodegeneration with brain iron accumulation 5 [RCV001522926]\|not provided [RCV001697811]	benign\|likely benign	X	49075366	49075366	Human	1	name
597961812	CV3808997	single nucleotide variant	NM_001029896.2(WDR45):c.450C>T (p.Leu150=)	Neurodegeneration with brain iron accumulation 5 [RCV005163899]	likely benign	X	49075932	49075932	Human	1	name
597944318	CV3847857	single nucleotide variant	NM_001029896.2(WDR45):c.98A>G (p.Asn33Ser)	Neurodegeneration with brain iron accumulation 5 [RCV005188586]\|not specified [RCV005407407]	uncertain significance	X	49077869	49077869	Human	1	name
597949692	CV3849152	single nucleotide variant	NM_001029896.2(WDR45):c.741C>T (p.His247=)	Neurodegeneration with brain iron accumulation 5 [RCV005189893]	uncertain significance	X	49075450	49075450	Human	1	name
12895097	CV411397	single nucleotide variant	NM_001029896.2(WDR45):c.41T>C (p.Phe14Ser)	not provided [RCV000485248]	likely pathogenic	X	49078055	49078055	Human		name
13480631	CV446686	single nucleotide variant	NM_001029896.2(WDR45):c.38G>C (p.Arg13Pro)	Neurodegeneration with brain iron accumulation 5 [RCV001046795]\|not provided [RCV000521286]	likely pathogenic\|uncertain significance	X	49078058	49078058	Human	1	name
13529219	CV508149	single nucleotide variant	NM_001029896.2(WDR45):c.618A>G (p.Val206=)	not provided [RCV001707810]	likely benign	X	49075652	49075652	Human		name
13541326	CV508289	single nucleotide variant	NM_001029896.2(WDR45):c.378C>T (p.Tyr126=)	not specified [RCV000616009]	likely benign	X	49076488	49076488	Human		name
13530363	CV508590	single nucleotide variant	NM_001029896.2(WDR45):c.321T>C (p.Ser107=)	Neurodegeneration with brain iron accumulation 5 [RCV001392861]\|not specified [RCV000600671]	likely benign	X	49076665	49076665	Human	1	name
13526571	CV508681	single nucleotide variant	NM_001029896.2(WDR45):c.564C>T (p.Ile188=)	Neurodegeneration with brain iron accumulation 5 [RCV001523444]\|not specified [RCV000604302]	benign\|likely benign	X	49075706	49075706	Human	1	name
8571231	CV51082	single nucleotide variant	NM_001029896.2(WDR45):c.516G>C (p.Val172=)	Neurodegeneration with brain iron accumulation 5 [RCV000034830]	pathogenic	X	49075866	49075866	Human	1	name
14396006	CV611949	single nucleotide variant	NM_001029896.2(WDR45):c.52C>T (p.Gln18Ter)	Neurodegeneration with brain iron accumulation 5 [RCV001194319]\|not provided [RCV000760729]	pathogenic\|likely pathogenic	X	49078044	49078044	Human	1	name
14399086	CV614508	single nucleotide variant	NM_001029896.2(WDR45):c.870C>T (p.Tyr290=)	Inborn genetic diseases [RCV002370025]\|Neurodegeneration with brain iron accumulation 5 [RCV000768137]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	49075239	49075239	Human	2	name
14711430	CV650101	single nucleotide variant	NM_001029896.2(WDR45):c.91A>G (p.Ile31Val)	Neurodegeneration with brain iron accumulation 5 [RCV000817703]\|not provided [RCV001772125]	uncertain significance	X	49077876	49077876	Human	1	name
15133644	CV758539	single nucleotide variant	NM_001029896.2(WDR45):c.624C>T (p.Ala208=)	Neurodegeneration with brain iron accumulation 5 [RCV001406457]	likely benign	X	49075646	49075646	Human	1	name
15189337	CV774090	single nucleotide variant	NM_001029896.2(WDR45):c.966T>A (p.Ser322=)	Neurodegeneration with brain iron accumulation 5 [RCV001435460]	likely benign	X	49075143	49075143	Human	1	name
15129185	CV774091	single nucleotide variant	NM_001029896.2(WDR45):c.759C>T (p.Cys253=)	Inborn genetic diseases [RCV002390987]\|Neurodegeneration with brain iron accumulation 5 [RCV001415805]	likely benign	X	49075432	49075432	Human	2	name
15128389	CV774092	single nucleotide variant	NM_001029896.2(WDR45):c.621G>A (p.Val207=)	Neurodegeneration with brain iron accumulation 5 [RCV000941709]	likely benign	X	49075649	49075649	Human	1	name
15111098	CV786856	single nucleotide variant	NM_001029896.2(WDR45):c.723C>T (p.Tyr241=)	Neurodegeneration with brain iron accumulation 5 [RCV000977570]	likely benign	X	49075547	49075547	Human	1	name
21070144	CV789702	indel	NM_001029896.2(WDR45):c.437-4_437-2delinsT	Neurodegeneration with brain iron accumulation 5 [RCV000986092]	pathogenic	X	49075947	49075949	Human		name
21405111	CV801227	duplication	NM_001029896.2(WDR45):c.225dup (p.Glu76fs)	Autism [RCV001004010]	likely pathogenic	X	49077652	49077653	Human	2	name
28883998	CV860889	deletion	NM_001029896.2(WDR45):c.244del (p.Trp82fs)	not provided [RCV001091503]	pathogenic	X	49076742	49076742	Human		name
38467279	CV921018	single nucleotide variant	NM_001029896.2(WDR45):c.38G>A (p.Arg13His)	Neurodegeneration with brain iron accumulation 5 [RCV001516392]\|not provided [RCV001200324]	benign\|likely benign	X	49078058	49078058	Human	1	name
40886585	CV974385	deletion	NM_001029896.2(WDR45):c.180del (p.Asn61fs)	Inborn genetic diseases [RCV001265740]	pathogenic	X	49077698	49077698	Human	1	name
40886745	CV974387	duplication	NM_001029896.2(WDR45):c.139dup (p.Gln47fs)	Inborn genetic diseases [RCV001265975]	pathogenic	X	49077738	49077739	Human	1	name
127270145	CV1065443	deletion	NM_001029896.2(WDR45):c.938del (p.Gly313fs)	Neurodegeneration with brain iron accumulation 5 [RCV001389746]	pathogenic	X	49075171	49075171	Human	1	name
127259433	CV1065446	single nucleotide variant	NM_001029896.2(WDR45):c.226G>T (p.Glu76Ter)	Neurodegeneration with brain iron accumulation 5 [RCV001387145]	pathogenic	X	49077652	49077652	Human	1	name
127262331	CV1086737	single nucleotide variant	NM_001029896.2(WDR45):c.155G>C (p.Gly52Ala)	Neurodegeneration with brain iron accumulation 5 [RCV001402617]	likely benign	X	49077723	49077723	Human	1	name
127294435	CV1159704	single nucleotide variant	NM_001029896.2(WDR45):c.250G>A (p.Asp84Asn)	Inborn genetic diseases [RCV002568016]\|Neurodegeneration with brain iron accumulation 5 [RCV001511746]\|not provided [RCV001577957]	benign\|likely benign	X	49076736	49076736	Human	2	name
127321497	CV1159707	single nucleotide variant	NM_001029896.2(WDR45):c.100G>A (p.Val34Met)	Neurodegeneration with brain iron accumulation 5 [RCV001523087]\|not provided [RCV001572743]	benign\|likely benign\|uncertain significance	X	49077867	49077867	Human	1	name
150339502	CV1174887	deletion	NM_001029896.2(WDR45):c.908del (p.Pro303fs)	not provided [RCV001543543]	pathogenic	X	49075201	49075201	Human		name
150555548	CV1304692	single nucleotide variant	NM_001029896.2(WDR45):c.208A>G (p.Ser70Gly)	not provided [RCV001772940]	uncertain significance	X	49077670	49077670	Human		name
150557051	CV1310378	deletion	NM_001029896.2(WDR45):c.604del (p.Gln202fs)	Neurodegeneration with brain iron accumulation 5 [RCV001775306]	pathogenic	X	49075666	49075666	Human	1	name
151355806	CV1326990	deletion	NM_001029896.2(WDR45):c.501del (p.Ser168fs)	not provided [RCV001822159]	pathogenic	X	49075881	49075881	Human		name
151823803	CV1378513	single nucleotide variant	NM_001029896.2(WDR45):c.151A>G (p.Met51Val)	Neurodegeneration with brain iron accumulation 5 [RCV002050059]	uncertain significance	X	49077727	49077727	Human	1	name
151764632	CV1387348	single nucleotide variant	NM_001029896.2(WDR45):c.206G>C (p.Gly69Ala)	Neurodegeneration with brain iron accumulation 5 [RCV001987652]	uncertain significance	X	49077672	49077672	Human	1	name
151847248	CV1409514	deletion	NM_001029896.2(WDR45):c.880del (p.Gln294fs)	Neurodegeneration with brain iron accumulation 5 [RCV001882116]	pathogenic	X	49075229	49075229	Human	1	name
151746271	CV1439415	single nucleotide variant	NM_001029896.2(WDR45):c.215C>T (p.Pro72Leu)	Neurodegeneration with brain iron accumulation 5 [RCV001985759]	uncertain significance	X	49077663	49077663	Human	1	name
151824772	CV1478298	single nucleotide variant	NM_001029896.2(WDR45):c.290T>G (p.Leu97Arg)	Neurodegeneration with brain iron accumulation 5 [RCV002030238]	uncertain significance	X	49076696	49076696	Human	1	name
151757612	CV1514259	single nucleotide variant	NM_001029896.2(WDR45):c.194T>C (p.Leu65Ser)	Neurodegeneration with brain iron accumulation 5 [RCV001948780]\|not provided [RCV004793632]	uncertain significance	X	49077684	49077684	Human	1	name
152078039	CV1602024	single nucleotide variant	NM_001029896.2(WDR45):c.232T>G (p.Ser78Ala)	Neurodegeneration with brain iron accumulation 5 [RCV002148947]	likely benign	X	49077646	49077646	Human	1	name
243059087	CV1696682	single nucleotide variant	NM_001029896.2(WDR45):c.107C>A (p.Pro36His)	Optic atrophy 2 [RCV003147748]	likely pathogenic	X	49077860	49077860	Human	1	name
155643922	CV1708236	deletion	NM_001029896.2(WDR45):c.488del (p.Gly163fs)	Neurodegeneration with brain iron accumulation 5 [RCV002290225]	pathogenic	X	49075894	49075894	Human	1	name
155694737	CV1796882	single nucleotide variant	NM_001029896.2(WDR45):c.115G>A (p.Glu39Lys)	Inborn genetic diseases [RCV002357578]	uncertain significance	X	49077852	49077852	Human	1	name
156192619	CV2066444	single nucleotide variant	NM_001029896.2(WDR45):c.1062C>A (p.Ile354=)	Neurodegeneration with brain iron accumulation 5 [RCV002828657]	likely benign	X	49074824	49074824	Human	1	name
10406868	CV209073	duplication	NM_001029896.2(WDR45):c.966dup (p.Val323fs)	Neurodegeneration with brain iron accumulation 5 [RCV000194492]	pathogenic\|likely pathogenic	X	49075142	49075143	Human	1	name
156111661	CV2121194	single nucleotide variant	NM_001029896.2(WDR45):c.256C>T (p.Arg86Trp)	Neurodegeneration with brain iron accumulation 5 [RCV002953140]	uncertain significance	X	49076730	49076730	Human	1	name
156297290	CV2180370	single nucleotide variant	NM_001029896.2(WDR45):c.167T>C (p.Met56Thr)	Neurodegeneration with brain iron accumulation 5 [RCV003027928]	uncertain significance	X	49077711	49077711	Human	1	name
11087707	CV227711	deletion	NM_001029896.2(WDR45):c.777del (p.Thr260fs)	Neurodegeneration with brain iron accumulation 5 [RCV000211102]	uncertain significance	X	49075414	49075414	Human	1	name
155909751	CV2303452	single nucleotide variant	NM_001029896.2(WDR45):c.176G>A (p.Arg59His)	Inborn genetic diseases [RCV002902385]	uncertain significance	X	49077702	49077702	Human	1	name
156435163	CV2403417	single nucleotide variant	NM_001029896.2(WDR45):c.235G>T (p.Val79Leu)	Developmental disorder [RCV003127353]	pathogenic	X	49077643	49077643	Human	1	name
243053343	CV2418130	deletion	NM_001029896.2(WDR45):c.892del (p.Ala298fs)	Neurodegeneration with brain iron accumulation 5 [RCV003153196]	likely pathogenic	X	49075217	49075217	Human	1	name
401859610	CV2794377	duplication	NM_001029896.2(WDR45):c.618dup (p.Val207fs)	Neurodegeneration with brain iron accumulation 5 [RCV003387493]	pathogenic	X	49075651	49075652	Human	1	name
401919587	CV2798490	deletion	NM_001029896.2(WDR45):c.951del (p.Lys318fs)	WDR45-related disorder [RCV003402408]	pathogenic	X	49075158	49075158	Human		name , trait , alternate_id
401946751	CV2831755	deletion	NM_001029896.2(WDR45):c.672del (p.Lys225fs)	Neurodegeneration with brain iron accumulation 5 [RCV003445416]	not provided	X	49075598	49075598	Human		name
405232092	CV2950479	single nucleotide variant	NM_001029896.2(WDR45):c.153G>A (p.Met51Ile)	Neurodegeneration with brain iron accumulation 5 [RCV003735090]	uncertain significance	X	49077725	49077725	Human	1	name
405232270	CV2964115	single nucleotide variant	NM_001029896.2(WDR45):c.183C>G (p.Asn61Lys)	Neurodegeneration with brain iron accumulation 5 [RCV003735129]	likely pathogenic	X	49077695	49077695	Human	1	name
405232567	CV2966215	single nucleotide variant	NM_001029896.2(WDR45):c.1017T>C (p.Pro339=)	Neurodegeneration with brain iron accumulation 5 [RCV003735167]	likely benign	X	49074869	49074869	Human	1	name
405232632	CV2980523	single nucleotide variant	NM_001029896.2(WDR45):c.283C>G (p.Leu95Val)	Neurodegeneration with brain iron accumulation 5 [RCV003735182]	benign	X	49076703	49076703	Human	1	name
407501943	CV3495639	single nucleotide variant	NM_001029896.2(WDR45):c.245G>C (p.Trp82Ser)	not provided [RCV004697479]	likely pathogenic	X	49076741	49076741	Human		name
408394616	CV3521535	single nucleotide variant	NM_001029896.2(WDR45):c.136G>C (p.Glu46Gln)	Neurodegeneration with brain iron accumulation 5 [RCV004764332]	likely pathogenic\|uncertain significance	X	49077742	49077742	Human	1	name
596920936	CV3534281	single nucleotide variant	NM_001029896.2(WDR45):c.1077C>T (p.Asp359=)	not specified [RCV004783500]	likely benign	X	49074809	49074809	Human		name
596927179	CV3536509	deletion	NM_001029896.2(WDR45):c.456del (p.Ser153fs)	Neurodegeneration with brain iron accumulation 5 [RCV004789917]	pathogenic	X	49075926	49075926	Human	1	name
597975189	CV3798791	single nucleotide variant	NM_001029896.2(WDR45):c.1047C>T (p.Asp349=)	Neurodegeneration with brain iron accumulation 5 [RCV005144380]	likely benign	X	49074839	49074839	Human	1	name
597968660	CV3821001	single nucleotide variant	NM_001029896.2(WDR45):c.175C>T (p.Arg59Cys)	Neurodegeneration with brain iron accumulation 5 [RCV005165842]	uncertain significance	X	49077703	49077703	Human	1	name
616938485	CV4012613	duplication	NM_001029896.2(WDR45):c.347dup (p.Ile117fs)	Neurodegeneration with brain iron accumulation 5 [RCV005410074]	likely pathogenic	X	49076518	49076519	Human	1	name
616938297	CV4013024	deletion	NM_001029896.2(WDR45):c.485del (p.Pro162fs)	not provided [RCV005410491]	pathogenic	X	49075897	49075897	Human		name
616933607	CV4013513	deletion	NM_001029896.2(WDR45):c.548del (p.Ser183fs)	Neurodegeneration with brain iron accumulation 5 [RCV005411075]	pathogenic	X	49075722	49075722	Human	1	name
13481525	CV446685	single nucleotide variant	NM_001029896.2(WDR45):c.155G>A (p.Gly52Asp)	Neurodegeneration with brain iron accumulation 5 [RCV001359363]\|not provided [RCV000521533]	uncertain significance	X	49077723	49077723	Human	1	name
13501132	CV471616	single nucleotide variant	NM_001029896.2(WDR45):c.176G>C (p.Arg59Pro)	Neurodegeneration with brain iron accumulation 5 [RCV000539730]	uncertain significance	X	49077702	49077702	Human	1	name
13467369	CV472163	single nucleotide variant	NM_001029896.2(WDR45):c.267G>C (p.Lys89Asn)	Neurodegeneration with brain iron accumulation 5 [RCV000554436]	uncertain significance	X	49076719	49076719	Human	1	name
13521549	CV495900	duplication	NM_001029896.2(WDR45):c.599dup (p.Asn201fs)	Neurodegeneration with brain iron accumulation 5 [RCV002248813]\|not provided [RCV000599544]	pathogenic	X	49075670	49075671	Human	1	name
8571232	CV51083	duplication	NM_001029896.2(WDR45):c.434dup (p.Leu147fs)	Neurodegeneration with brain iron accumulation 5 [RCV000034831]	pathogenic	X	49076431	49076432	Human	1	name
13622929	CV535022	single nucleotide variant	NM_001029896.2(WDR45):c.254C>T (p.Ala85Val)	Neurodegeneration with brain iron accumulation 5 [RCV000650355]\|Neurodegeneration with brain iron accumulation 5 [RCV002507118]\|not provided [RCV004773075]	uncertain significance	X	49076732	49076732	Human	1	name
13622927	CV535025	single nucleotide variant	NM_001029896.2(WDR45):c.136G>A (p.Glu46Lys)	Neurodegeneration with brain iron accumulation 5 [RCV000650357]	uncertain significance	X	49077742	49077742	Human	1	name
13817628	CV574749	single nucleotide variant	NM_001029896.2(WDR45):c.257G>A (p.Arg86Gln)	Inborn genetic diseases [RCV002424639]\|Neurodegeneration with brain iron accumulation 5 [RCV000693149]\|not provided [RCV000999422]\|not specified [RCV004997167]	benign\|likely benign\|uncertain significance	X	49076729	49076729	Human	2	name
14746751	CV672119	single nucleotide variant	NM_001029896.2(WDR45):c.246G>A (p.Trp82Ter)	Neurodegeneration with brain iron accumulation 5 [RCV000844934]	not provided	X	49076740	49076740	Human		name
21073713	CV792468	deletion	NM_001029896.2(WDR45):c.618del (p.Val207fs)	Neurodegeneration with brain iron accumulation 5 [RCV000990818]	likely pathogenic	X	49075652	49075652	Human	1	name
21073716	CV792470	single nucleotide variant	NM_001029896.2(WDR45):c.170T>C (p.Leu57Pro)	Neurodegeneration with brain iron accumulation 5 [RCV000990820]	likely pathogenic	X	49077708	49077708	Human	1	name
21404419	CV802052	single nucleotide variant	NM_001029896.2(WDR45):c.185T>C (p.Leu62Pro)	Neurodegeneration with brain iron accumulation 5 [RCV001004757]	likely pathogenic	X	49077693	49077693	Human	1	name
26909565	CV850118	deletion	NM_001029896.2(WDR45):c.457del (p.Ser153fs)	Neurodegeneration with brain iron accumulation 5 [RCV001052729]	pathogenic	X	49075925	49075925	Human	1	name
26906720	CV850119	single nucleotide variant	NM_001029896.2(WDR45):c.247G>T (p.Asp83Tyr)	Neurodegeneration with brain iron accumulation 5 [RCV001037609]	uncertain significance	X	49076739	49076739	Human	1	name
26916853	CV850121	single nucleotide variant	NM_001029896.2(WDR45):c.200G>A (p.Gly67Asp)	Neurodegeneration with brain iron accumulation 5 [RCV001042261]	likely pathogenic	X	49077678	49077678	Human	1	name
26909725	CV850122	single nucleotide variant	NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys)	Inborn genetic diseases [RCV002409441]\|Neurodegeneration with brain iron accumulation 5 [RCV001052749]\|not provided [RCV001091505]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	49077695	49077695	Human	2	name
28883979	CV860887	duplication	NM_001029896.2(WDR45):c.770dup (p.Asp257fs)	not provided [RCV001091501]	pathogenic	X	49075420	49075421	Human		name
38474344	CV939619	single nucleotide variant	NM_001029896.2(WDR45):c.184C>G (p.Leu62Val)	Neurodegeneration with brain iron accumulation 5 [RCV001203777]	uncertain significance	X	49077694	49077694	Human	1	name
38597622	CV963983	duplication	NM_001029896.2(WDR45):c.510dup (p.Leu171fs)	Neurodegeneration with brain iron accumulation 5 [RCV001252632]	pathogenic	X	49075871	49075872	Human	1	name
40814665	CV969540	single nucleotide variant	NM_001029896.2(WDR45):c.292G>T (p.Glu98Ter)	Intellectual disability [RCV001260892]	pathogenic	X	49076694	49076694	Human	2	name
40886542	CV974386	single nucleotide variant	NM_001029896.2(WDR45):c.139C>T (p.Gln47Ter)	Inborn genetic diseases [RCV001265671]	pathogenic	X	49077739	49077739	Human	1	name
127252308	CV1086732	single nucleotide variant	NM_001029896.2(WDR45):c.524C>T (p.Ala175Val)	Inborn genetic diseases [RCV002350808]\|Neurodegeneration with brain iron accumulation 5 [RCV001418046]\|not provided [RCV001664868]\|not specified [RCV004998885]	likely benign\|uncertain significance	X	49075746	49075746	Human	2	name
127326715	CV1129810	single nucleotide variant	NM_001029896.2(WDR45):c.325C>T (p.Arg109Cys)	Neurodegeneration with brain iron accumulation 5 [RCV001468848]\|not provided [RCV001544831]	likely benign\|uncertain significance	X	49076661	49076661	Human	1	name
127316846	CV1150831	single nucleotide variant	NM_001029896.2(WDR45):c.941G>A (p.Arg314His)	Neurodegeneration with brain iron accumulation 5 [RCV001503160]\|not provided [RCV001587438]	likely benign	X	49075168	49075168	Human	1	name
150338303	CV1173963	single nucleotide variant	NM_001029896.2(WDR45):c.755T>C (p.Leu252Pro)	Neurodegeneration with brain iron accumulation 5 [RCV001542248]	pathogenic\|likely pathogenic	X	49075436	49075436	Human	1	name
150427293	CV1189120	single nucleotide variant	NM_001029896.2(WDR45):c.669A>C (p.Gln223His)	not provided [RCV001560733]	uncertain significance	X	49075601	49075601	Human		name
150529564	CV1288250	single nucleotide variant	NM_001029896.2(WDR45):c.826G>C (p.Ala276Pro)	Neurodegeneration with brain iron accumulation 5 [RCV001726718]	uncertain significance	X	49075365	49075365	Human	1	name
150555330	CV1297780	single nucleotide variant	NM_001029896.2(WDR45):c.560C>T (p.Thr187Met)	not provided [RCV001772688]	uncertain significance	X	49075710	49075710	Human		name
150528355	CV1301860	single nucleotide variant	NM_001029896.2(WDR45):c.940C>T (p.Arg314Cys)	Neurodegeneration with brain iron accumulation 5 [RCV002540455]\|not provided [RCV001755232]	uncertain significance	X	49075169	49075169	Human	1	name
150553416	CV1303406	single nucleotide variant	NM_001029896.2(WDR45):c.421C>G (p.Arg141Gly)	not provided [RCV001769096]	uncertain significance	X	49076445	49076445	Human		name
151233624	CV1317901	single nucleotide variant	NM_001029896.2(WDR45):c.459C>A (p.Ser153Arg)	Neurodegeneration with brain iron accumulation 5 [RCV001885213]\|not provided [RCV001787668]	uncertain significance	X	49075923	49075923	Human	1	name
151766060	CV1359026	single nucleotide variant	NM_001029896.2(WDR45):c.392A>G (p.Asn131Ser)	Neurodegeneration with brain iron accumulation 5 [RCV001970708]	uncertain significance	X	49076474	49076474	Human	1	name
151769048	CV1367609	single nucleotide variant	NM_001029896.2(WDR45):c.937G>A (p.Gly313Ser)	Neurodegeneration with brain iron accumulation 5 [RCV001863898]	uncertain significance	X	49075172	49075172	Human	1	name
151795865	CV1421393	single nucleotide variant	NM_001029896.2(WDR45):c.485C>T (p.Pro162Leu)	Neurodegeneration with brain iron accumulation 5 [RCV001917252]	benign\|uncertain significance	X	49075897	49075897	Human	1	name
151743368	CV1431740	single nucleotide variant	NM_001029896.2(WDR45):c.514G>A (p.Val172Met)	Neurodegeneration with brain iron accumulation 5 [RCV001926689]	uncertain significance	X	49075868	49075868	Human	1	name
151754719	CV1449149	single nucleotide variant	NM_001029896.2(WDR45):c.482T>C (p.Phe161Ser)	Neurodegeneration with brain iron accumulation 5 [RCV001986638]	uncertain significance	X	49075900	49075900	Human	1	name
151874476	CV1475787	single nucleotide variant	NM_001029896.2(WDR45):c.979T>G (p.Cys327Gly)	Neurodegeneration with brain iron accumulation 5 [RCV002019365]	uncertain significance	X	49074907	49074907	Human	1	name
151889773	CV1516395	single nucleotide variant	NM_001029896.2(WDR45):c.947C>G (p.Thr316Ser)	Neurodegeneration with brain iron accumulation 5 [RCV002038667]\|not provided [RCV003443002]	likely benign\|uncertain significance	X	49075162	49075162	Human	1	name
152071633	CV1543997	single nucleotide variant	NM_001029896.2(WDR45):c.527G>A (p.Ser176Asn)	Inborn genetic diseases [RCV004044981]\|Neurodegeneration with brain iron accumulation 5 [RCV002169370]	likely benign	X	49075743	49075743	Human	2	name
152135592	CV1587645	single nucleotide variant	NM_001029896.2(WDR45):c.962A>G (p.Asn321Ser)	Neurodegeneration with brain iron accumulation 5 [RCV002083460]	likely benign	X	49075147	49075147	Human	1	name
152079777	CV1620611	single nucleotide variant	NM_001029896.2(WDR45):c.328A>G (p.Met110Val)	Neurodegeneration with brain iron accumulation 5 [RCV002112589]	likely benign	X	49076658	49076658	Human	1	name
152979959	CV1678311	single nucleotide variant	NM_001029896.2(WDR45):c.785A>C (p.His262Pro)	Neurodegeneration with brain iron accumulation 5 [RCV002246816]\|not provided [RCV005409868]	pathogenic\|uncertain significance	X	49075406	49075406	Human	1	name
152979962	CV1678313	microsatellite	NM_001029896.2(WDR45):c.78_79del (p.Glu26fs)	Neurodegeneration with brain iron accumulation 5 [RCV002246818]	pathogenic	X	49077888	49077889	Human		name
153002204	CV1685454	single nucleotide variant	NM_001029896.2(WDR45):c.956A>T (p.Asn319Ile)	not provided [RCV002259440]	uncertain significance	X	49075153	49075153	Human		name
155697086	CV1690801	single nucleotide variant	NM_001029896.2(WDR45):c.331C>T (p.Arg111Cys)	Neurodegeneration with brain iron accumulation 5 [RCV002295374]	uncertain significance	X	49076655	49076655	Human	1	name
155645913	CV1709269	single nucleotide variant	NM_001029896.2(WDR45):c.665C>A (p.Thr222Lys)	not provided [RCV002292145]	uncertain significance	X	49075605	49075605	Human		name
155701710	CV1771175	single nucleotide variant	NM_001029896.2(WDR45):c.741C>A (p.His247Gln)	Neurodegeneration with brain iron accumulation 5 [RCV002295658]	uncertain significance	X	49075450	49075450	Human	1	name
155700412	CV1773080	single nucleotide variant	NM_001029896.2(WDR45):c.981C>G (p.Cys327Trp)	Neurodegeneration with brain iron accumulation 5 [RCV002295594]	uncertain significance	X	49074905	49074905	Human	1	name
155688312	CV1775023	single nucleotide variant	NM_001029896.2(WDR45):c.893C>T (p.Ala298Val)	Neurodegeneration with brain iron accumulation 5 [RCV002294762]	uncertain significance	X	49075216	49075216	Human	1	name
155694374	CV1779752	single nucleotide variant	NM_001029896.2(WDR45):c.968T>A (p.Val323Asp)	Neurodegeneration with brain iron accumulation 5 [RCV002295103]	uncertain significance	X	49075141	49075141	Human	1	name
155703956	CV1798035	single nucleotide variant	NM_001029896.2(WDR45):c.439C>T (p.Leu147Phe)	Inborn genetic diseases [RCV002333952]\|not provided [RCV003329444]	uncertain significance	X	49075943	49075943	Human	1	name
156093369	CV1895738	single nucleotide variant	NM_001029896.2(WDR45):c.698G>A (p.Arg233Gln)	Neurodegeneration with brain iron accumulation 5 [RCV003080310]	uncertain significance	X	49075572	49075572	Human	1	name
156313042	CV1913752	single nucleotide variant	NM_001029896.2(WDR45):c.517G>A (p.Asp173Asn)	Neurodegeneration with brain iron accumulation 5 [RCV002599771]	uncertain significance	X	49075753	49075753	Human	1	name
156042058	CV1926913	single nucleotide variant	NM_001029896.2(WDR45):c.502A>T (p.Ser168Cys)	Neurodegeneration with brain iron accumulation 5 [RCV002637616]	uncertain significance	X	49075880	49075880	Human	1	name
156322774	CV1976279	single nucleotide variant	NM_001029896.2(WDR45):c.422G>A (p.Arg141Gln)	Neurodegeneration with brain iron accumulation 5 [RCV002600339]	likely benign	X	49076444	49076444	Human	1	name
156415066	CV1983165	single nucleotide variant	NM_001029896.2(WDR45):c.577A>T (p.Ser193Cys)	Neurodegeneration with brain iron accumulation 5 [RCV002609495]	uncertain significance	X	49075693	49075693	Human	1	name
156205125	CV2021421	single nucleotide variant	NM_001029896.2(WDR45):c.742G>A (p.Asp248Asn)	Inborn genetic diseases [RCV004966063]\|Neurodegeneration with brain iron accumulation 5 [RCV002711541]	likely benign	X	49075449	49075449	Human	2	name
10406574	CV209074	single nucleotide variant	NM_001029896.2(WDR45):c.863G>T (p.Gly288Val)	Neurodegeneration with brain iron accumulation 5 [RCV001857710]\|not specified [RCV000193205]	uncertain significance	X	49075246	49075246	Human	1	name
10406552	CV209077	single nucleotide variant	NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)	Inborn genetic diseases [RCV004965322]\|Neurodegeneration with brain iron accumulation 5 [RCV000477948]\|X-linked cerebral-cerebellar-coloboma syndrome syndrome [RCV000679876]\|not provided [RCV000413483]	pathogenic\|likely pathogenic\|uncertain significance	X	49076469	49076469	Human	3	name
156345608	CV2172575	deletion	NM_001029896.2(WDR45):c.1064del (p.Cys355fs)	Neurodegeneration with brain iron accumulation 5 [RCV003030542]	uncertain significance	X	49074822	49074822	Human	1	name
156220749	CV2173224	single nucleotide variant	NM_001029896.2(WDR45):c.928T>C (p.Cys310Arg)	Neurodegeneration with brain iron accumulation 5 [RCV003025183]	likely pathogenic	X	49075181	49075181	Human	1	name
156182082	CV2182405	single nucleotide variant	NM_001029896.2(WDR45):c.341A>T (p.Lys114Met)	Neurodegeneration with brain iron accumulation 5 [RCV003057561]	uncertain significance	X	49076645	49076645	Human	1	name
156033039	CV2376554	single nucleotide variant	NM_001029896.2(WDR45):c.983T>C (p.Val328Ala)	Inborn genetic diseases [RCV002703800]	uncertain significance	X	49074903	49074903	Human	1	name
243062503	CV2404949	single nucleotide variant	NM_001029896.2(WDR45):c.632C>T (p.Ser211Phe)	Neurodegeneration with brain iron accumulation 5 [RCV003225796]	uncertain significance	X	49075638	49075638	Human	1	name
243052130	CV2416076	single nucleotide variant	NM_001029896.2(WDR45):c.641G>A (p.Gly214Asp)	Neurodegeneration with brain iron accumulation 5 [RCV003149136]	likely pathogenic	X	49075629	49075629	Human	1	name
243049946	CV2417269	single nucleotide variant	NM_001029896.2(WDR45):c.313G>A (p.Val105Met)	not provided [RCV003152141]	uncertain significance	X	49076673	49076673	Human		name
11350518	CV243898	single nucleotide variant	NM_001029896.2(WDR45):c.611G>A (p.Gly204Asp)	Neurodegeneration with brain iron accumulation 5 [RCV000234791]	pathogenic	X	49075659	49075659	Human	1	name
329848783	CV2523531	single nucleotide variant	NM_001029896.2(WDR45):c.322G>A (p.Val108Met)	Neurodegeneration with brain iron accumulation 5 [RCV005102418]\|not provided [RCV003225545]	uncertain significance	X	49076664	49076664	Human	1	name
329952415	CV2669581	single nucleotide variant	NM_001029896.2(WDR45):c.988G>A (p.Gly330Arg)	Migraine, familial hemiplegic, 1 [RCV003233045]	uncertain significance	X	49074898	49074898	Human	1	name
329954922	CV2670854	single nucleotide variant	NM_001029896.2(WDR45):c.818G>A (p.Arg273His)	not provided [RCV003236122]	uncertain significance	X	49075373	49075373	Human		name
11637473	CV267206	single nucleotide variant	NM_001029896.2(WDR45):c.838G>A (p.Val280Met)	Inborn genetic diseases [RCV002311402]\|Neurodegeneration with brain iron accumulation 5 [RCV001083439]\|Neurodegeneration with brain iron accumulation 5 [RCV002487198]\|not provided [RCV000714188]\|not specified [RCV000286531]	benign\|likely benign	X	49075271	49075271	Human	2	name
401871477	CV2749549	single nucleotide variant	NM_001029896.2(WDR45):c.490C>T (p.His164Tyr)	not provided [RCV003332677]	uncertain significance	X	49075892	49075892	Human		name
401918546	CV2800831	single nucleotide variant	NM_001029896.2(WDR45):c.999C>G (p.His333Gln)	WDR45-related disorder [RCV003402071]	uncertain significance	X	49074887	49074887	Human		name , trait , alternate_id
404996766	CV2851482	single nucleotide variant	NM_001029896.2(WDR45):c.364C>G (p.Arg122Gly)	Neurodegeneration with brain iron accumulation 5 [RCV003491850]	uncertain significance	X	49076502	49076502	Human	1	name
402516334	CV2856625	single nucleotide variant	NM_001029896.2(WDR45):c.845A>T (p.Lys282Met)	Neurodegeneration with brain iron accumulation 5 [RCV003575424]	uncertain significance	X	49075264	49075264	Human	1	name
402490250	CV2866539	single nucleotide variant	NM_001029896.2(WDR45):c.667C>T (p.Gln223Ter)	Neurodegeneration with brain iron accumulation 5 [RCV003572867]	pathogenic	X	49075603	49075603	Human	1	name
402524029	CV2906591	single nucleotide variant	NM_001029896.2(WDR45):c.836G>T (p.Arg279Leu)	Neurodegeneration with brain iron accumulation 5 [RCV003576074]	uncertain significance	X	49075273	49075273	Human	1	name
402525173	CV2920062	single nucleotide variant	NM_001029896.2(WDR45):c.929G>A (p.Cys310Tyr)	Neurodegeneration with brain iron accumulation 5 [RCV003576135]\|not provided [RCV004721206]	pathogenic\|uncertain significance	X	49075180	49075180	Human	1	name
405232236	CV2970900	single nucleotide variant	NM_001029896.2(WDR45):c.708C>G (p.Asp236Glu)	Inborn genetic diseases [RCV005289011]\|Neurodegeneration with brain iron accumulation 5 [RCV003735121]	likely benign\|uncertain significance	X	49075562	49075562	Human	2	name
405232535	CV2976135	single nucleotide variant	NM_001029896.2(WDR45):c.626C>G (p.Ser209Ter)	Neurodegeneration with brain iron accumulation 5 [RCV003735160]	pathogenic	X	49075644	49075644	Human	1	name
405232716	CV2981536	single nucleotide variant	NM_001029896.2(WDR45):c.902C>G (p.Thr301Ser)	Neurodegeneration with brain iron accumulation 5 [RCV003735201]	uncertain significance	X	49075207	49075207	Human	1	name
405232918	CV2983477	single nucleotide variant	NM_001029896.2(WDR45):c.703A>G (p.Thr235Ala)	Neurodegeneration with brain iron accumulation 5 [RCV003735244]	benign	X	49075567	49075567	Human	1	name
405232801	CV2988825	single nucleotide variant	NM_001029896.2(WDR45):c.335A>G (p.His112Arg)	Neurodegeneration with brain iron accumulation 5 [RCV003735220]	uncertain significance	X	49076651	49076651	Human	1	name
405232996	CV3001269	single nucleotide variant	NM_001029896.2(WDR45):c.673A>T (p.Lys225Ter)	Neurodegeneration with brain iron accumulation 5 [RCV003735260]	pathogenic	X	49075597	49075597	Human	1	name
405050362	CV3138025	single nucleotide variant	NM_001029896.2(WDR45):c.336T>A (p.His112Gln)	Neurodegeneration with brain iron accumulation 5 [RCV003832063]	uncertain significance	X	49076650	49076650	Human	1	name
405187167	CV3149135	single nucleotide variant	NM_001029896.2(WDR45):c.952A>C (p.Lys318Gln)	Neurodegeneration with brain iron accumulation 5 [RCV003843061]	uncertain significance	X	49075157	49075157	Human	1	name
402505970	CV3181614	single nucleotide variant	NM_001029896.2(WDR45):c.431C>T (p.Pro144Leu)	Neurodegeneration with brain iron accumulation 5 [RCV003878448]\|not provided [RCV005402104]	uncertain significance	X	49076435	49076435	Human	1	name
407459115	CV3189200	deletion	NM_001029896.2(WDR45):c.1048del (p.Val350fs)	Neurodegeneration with brain iron accumulation 5 [RCV004698436]	likely pathogenic	X	49074838	49074838	Human	1	name
407425358	CV3411213	single nucleotide variant	NM_001029896.2(WDR45):c.400A>G (p.Lys134Glu)	not provided [RCV004588904]	uncertain significance	X	49076466	49076466	Human		name
408383211	CV3518341	single nucleotide variant	NM_001029896.2(WDR45):c.437G>A (p.Gly146Glu)	Neurodegeneration with brain iron accumulation 5 [RCV004759664]	likely pathogenic	X	49075945	49075945	Human	1	name
408388154	CV3527386	single nucleotide variant	NM_001029896.2(WDR45):c.692T>C (p.Leu231Pro)	not provided [RCV004773689]	uncertain significance	X	49075578	49075578	Human		name
596925010	CV3541779	single nucleotide variant	NM_001029896.2(WDR45):c.862G>C (p.Gly288Arg)	Neurodegeneration with brain iron accumulation 5 [RCV004795490]	uncertain significance	X	49075247	49075247	Human	1	name
596944295	CV3543132	single nucleotide variant	NM_001029896.2(WDR45):c.641G>T (p.Gly214Val)	Neurodegeneration with brain iron accumulation 5 [RCV004799004]	likely pathogenic	X	49075629	49075629	Human	1	name
12740914	CV360656	single nucleotide variant	NM_001029896.2(WDR45):c.871G>A (p.Val291Met)	not specified [RCV000413479]	uncertain significance	X	49075238	49075238	Human		name
597630672	CV3633634	single nucleotide variant	NM_001029896.2(WDR45):c.587C>G (p.Ala196Gly)	Inborn genetic diseases [RCV004967373]\|Neurodegeneration with brain iron accumulation 5 [RCV005110002]	uncertain significance	X	49075683	49075683	Human	2	name
597655613	CV3731499	single nucleotide variant	NM_001029896.2(WDR45):c.754C>T (p.Leu252Phe)	not provided [RCV005001680]	uncertain significance	X	49075437	49075437	Human		name
597833381	CV3735561	single nucleotide variant	NM_001029896.2(WDR45):c.658T>C (p.Phe220Leu)	not provided [RCV005063423]	uncertain significance	X	49075612	49075612	Human		name
597937069	CV3774623	single nucleotide variant	NM_001029896.2(WDR45):c.373G>T (p.Val125Leu)	Neurodegeneration with brain iron accumulation 5 [RCV005117656]	uncertain significance	X	49076493	49076493	Human	1	name
597916428	CV3779368	single nucleotide variant	NM_001029896.2(WDR45):c.563T>A (p.Ile188Asn)	Neurodegeneration with brain iron accumulation 5 [RCV005129509]	pathogenic	X	49075707	49075707	Human	1	name
597928962	CV3779834	single nucleotide variant	NM_001029896.2(WDR45):c.403C>G (p.Leu135Val)	Neurodegeneration with brain iron accumulation 5 [RCV005116363]	uncertain significance	X	49076463	49076463	Human	1	name
12837451	CV378374	single nucleotide variant	NM_001029896.2(WDR45):c.944A>C (p.Asn315Thr)	Inborn genetic diseases [RCV002314164]\|Neurodegeneration with brain iron accumulation 5 [RCV001512231]\|not provided [RCV003437166]\|not specified [RCV000425180]	benign\|likely benign	X	49075165	49075165	Human	2	name
597891330	CV3784981	single nucleotide variant	NM_001029896.2(WDR45):c.821G>A (p.Arg274His)	Neurodegeneration with brain iron accumulation 5 [RCV005125760]	uncertain significance	X	49075370	49075370	Human	1	name
597941190	CV3785733	single nucleotide variant	NM_001029896.2(WDR45):c.981C>A (p.Cys327Ter)	Neurodegeneration with brain iron accumulation 5 [RCV005133625]	pathogenic	X	49074905	49074905	Human	1	name
597972434	CV3790276	single nucleotide variant	NM_001029896.2(WDR45):c.704C>T (p.Thr235Ile)	Neurodegeneration with brain iron accumulation 5 [RCV005142699]	uncertain significance	X	49075566	49075566	Human	1	name
597847304	CV3792774	single nucleotide variant	NM_001029896.2(WDR45):c.583A>G (p.Ile195Val)	Neurodegeneration with brain iron accumulation 5 [RCV005144910]	uncertain significance	X	49075687	49075687	Human	1	name
597902864	CV3800232	single nucleotide variant	NM_001029896.2(WDR45):c.835C>T (p.Arg279Cys)	Neurodegeneration with brain iron accumulation 5 [RCV005127404]	uncertain significance	X	49075274	49075274	Human	1	name
597847649	CV3824028	single nucleotide variant	NM_001029896.2(WDR45):c.390C>A (p.Asp130Glu)	Neurodegeneration with brain iron accumulation 5 [RCV005173267]	uncertain significance	X	49076476	49076476	Human	1	name
597965714	CV3848408	single nucleotide variant	NM_001029896.2(WDR45):c.938G>T (p.Gly313Val)	Neurodegeneration with brain iron accumulation 5 [RCV005194288]	uncertain significance	X	49075171	49075171	Human	1	name
597873476	CV3849874	single nucleotide variant	NM_001029896.2(WDR45):c.506T>C (p.Leu169Pro)	Neurodegeneration with brain iron accumulation 5 [RCV005197863]	uncertain significance	X	49075876	49075876	Human	1	name
597846213	CV3880593	deletion	NM_001029896.2(WDR45):c.1039del (p.Ala347fs)	not provided [RCV005227481]	uncertain significance	X	49074847	49074847	Human		name
598189982	CV4008773	single nucleotide variant	NM_001029896.2(WDR45):c.577A>C (p.Ser193Arg)	Neurodegeneration with brain iron accumulation 5 [RCV005396272]	uncertain significance	X	49075693	49075693	Human	1	name
616933610	CV4013510	single nucleotide variant	NM_001029896.2(WDR45):c.563T>G (p.Ile188Ser)	Neurodegeneration with brain iron accumulation 5 [RCV005411072]	likely pathogenic	X	49075707	49075707	Human	1	name
616933606	CV4013514	single nucleotide variant	NM_001029896.2(WDR45):c.698G>T (p.Arg233Leu)	Neurodegeneration with brain iron accumulation 5 [RCV005411076]	likely pathogenic	X	49075572	49075572	Human	1	name
616933604	CV4013516	single nucleotide variant	NM_001029896.2(WDR45):c.409G>T (p.Glu137Ter)	Neurodegeneration with brain iron accumulation 5 [RCV005411078]	pathogenic	X	49076457	49076457	Human	1	name
616933603	CV4013517	single nucleotide variant	NM_001029896.2(WDR45):c.701G>A (p.Gly234Asp)	Neurodegeneration with brain iron accumulation 5 [RCV005411079]	likely pathogenic	X	49075569	49075569	Human	1	name
617148474	CV4016998	single nucleotide variant	NM_001029896.2(WDR45):c.499G>A (p.Gly167Arg)	Neurodegeneration with brain iron accumulation 5 [RCV005416145]	likely pathogenic	X	49075883	49075883	Human	1	name
617154364	CV4022630	single nucleotide variant	NM_001029896.2(WDR45):c.769G>A (p.Asp257Asn)	not provided [RCV005429988]	uncertain significance	X	49075422	49075422	Human		name
12906600	CV415792	single nucleotide variant	NM_001029896.2(WDR45):c.332G>A (p.Arg111His)	Neurodegeneration with brain iron accumulation 5 [RCV001299497]\|not provided [RCV000489415]	uncertain significance	X	49076654	49076654	Human	1	name
12912918	CV422488	single nucleotide variant	NM_001029896.2(WDR45):c.884G>A (p.Trp295Ter)	not provided [RCV000493172]	pathogenic	X	49075225	49075225	Human		name
12913949	CV422489	single nucleotide variant	NM_001029896.2(WDR45):c.500G>A (p.Gly167Glu)	Neurodegeneration with brain iron accumulation 5 [RCV000554794]\|not provided [RCV000494456]	pathogenic\|likely pathogenic\|uncertain significance	X	49075882	49075882	Human	1	name
13610266	CV425236	single nucleotide variant	NM_001029896.2(WDR45):c.352G>A (p.Val118Met)	Neurodegeneration with brain iron accumulation 5 [RCV000655955]	uncertain significance	X	49076514	49076514	Human	1	name
13489567	CV446684	single nucleotide variant	NM_001029896.2(WDR45):c.448C>G (p.Leu150Val)	Neurodegeneration with brain iron accumulation 5 [RCV002527614]\|not provided [RCV000523931]	uncertain significance	X	49075934	49075934	Human	1	name
13499483	CV471899	single nucleotide variant	NM_001029896.2(WDR45):c.364C>T (p.Arg122Cys)	Neurodegeneration with brain iron accumulation 5 [RCV000533015]	uncertain significance	X	49076502	49076502	Human	1	name
13509107	CV482257	single nucleotide variant	NM_001029896.2(WDR45):c.574C>T (p.Gln192Ter)	not provided [RCV000578879]	pathogenic	X	49075696	49075696	Human		name
13509222	CV482258	single nucleotide variant	NM_001029896.2(WDR45):c.307A>T (p.Lys103Ter)	not provided [RCV000579140]	pathogenic	X	49076679	49076679	Human		name
13518995	CV486481	single nucleotide variant	NM_001029896.2(WDR45):c.746C>A (p.Ser249Tyr)	not provided [RCV000585280]	uncertain significance	X	49075445	49075445	Human		name
13518803	CV486483	single nucleotide variant	NM_001029896.2(WDR45):c.745T>G (p.Ser249Ala)	not provided [RCV000585122]	uncertain significance	X	49075446	49075446	Human		name
13522735	CV492570	single nucleotide variant	NM_001029896.2(WDR45):c.808C>A (p.Arg270Ser)	not specified [RCV000592115]	likely benign	X	49075383	49075383	Human		name
13521152	CV495901	single nucleotide variant	NM_001029896.2(WDR45):c.487G>T (p.Gly163Ter)	not provided [RCV000599222]	likely pathogenic	X	49075895	49075895	Human		name
13538514	CV508588	single nucleotide variant	NM_001029896.2(WDR45):c.337G>A (p.Asp113Asn)	Neurodegeneration with brain iron accumulation 5 [RCV000934744]\|WDR45-related disorder [RCV003892346]\|not provided [RCV001712638]	benign\|likely benign	X	49076649	49076649	Human	1	name , trait , alternate_id
8571230	CV51081	single nucleotide variant	NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter)	Global developmental delay [RCV000415276]\|Inborn genetic diseases [RCV000623979]\|Neurodegeneration with brain iron accumulation 5 [RCV000034829]\|not provided [RCV000254714]	pathogenic	X	49075573	49075573	Human	9	name
8571233	CV51084	single nucleotide variant	NM_001029896.2(WDR45):c.634C>T (p.Gln212Ter)	Neurodegeneration with brain iron accumulation 5 [RCV000034832]	pathogenic	X	49075636	49075636	Human	1	name
13532813	CV512697	single nucleotide variant	NM_001029896.2(WDR45):c.508C>T (p.Gln170Ter)	Inborn genetic diseases [RCV000624568]\|Neurodegeneration with brain iron accumulation 5 [RCV001809706]	pathogenic	X	49075874	49075874	Human	2	name
13622885	CV534894	duplication	NM_001029896.2(WDR45):c.408dup (p.Glu137Ter)	Inborn genetic diseases [RCV002311987]\|Neurodegeneration with brain iron accumulation 5 [RCV000650353]	pathogenic	X	49076457	49076458	Human	2	name
13622926	CV535015	single nucleotide variant	NM_001029896.2(WDR45):c.317T>C (p.Leu106Pro)	Neurodegeneration with brain iron accumulation 5 [RCV000650358]	uncertain significance	X	49076669	49076669	Human	1	name
13622928	CV535016	single nucleotide variant	NM_001029896.2(WDR45):c.301T>C (p.Phe101Leu)	Neurodegeneration with brain iron accumulation 5 [RCV000650356]	uncertain significance	X	49076685	49076685	Human	1	name
13705320	CV536192	single nucleotide variant	NM_001029896.2(WDR45):c.870C>G (p.Tyr290Ter)	Neurodegeneration with brain iron accumulation 5 [RCV000735636]\|not provided [RCV000657778]	pathogenic	X	49075239	49075239	Human	1	name
13705625	CV537054	single nucleotide variant	NM_001029896.2(WDR45):c.760G>A (p.Ala254Thr)	not provided [RCV000658190]	likely pathogenic	X	49075431	49075431	Human		name
13818051	CV572522	single nucleotide variant	NM_001029896.2(WDR45):c.398G>A (p.Arg133Gln)	Neurodegeneration with brain iron accumulation 5 [RCV000707431]	likely benign\|uncertain significance	X	49076468	49076468	Human	1	name
13812528	CV573896	single nucleotide variant	NM_001029896.2(WDR45):c.566A>G (p.Asn189Ser)	Inborn genetic diseases [RCV002315990]\|Neurodegeneration with brain iron accumulation 5 [RCV000689513]\|not provided [RCV001574983]	benign\|likely benign\|uncertain significance	X	49075704	49075704	Human	2	name
13821643	CV574745	single nucleotide variant	NM_001029896.2(WDR45):c.881A>G (p.Gln294Arg)	Neurodegeneration with brain iron accumulation 5 [RCV000696196]	uncertain significance	X	49075228	49075228	Human	1	name
13802610	CV577969	single nucleotide variant	NM_001029896.2(WDR45):c.436G>A (p.Gly146Arg)	not provided [RCV000714187]	conflicting interpretations of pathogenicity\|uncertain significance	X	49076430	49076430	Human		name
14397394	CV613265	single nucleotide variant	NM_001029896.2(WDR45):c.584T>G (p.Ile195Arg)	not provided [RCV000762636]	uncertain significance	X	49075686	49075686	Human		name
14707126	CV650098	single nucleotide variant	NM_001029896.2(WDR45):c.950C>T (p.Ser317Phe)	Neurodegeneration with brain iron accumulation 5 [RCV000806026]	likely benign\|uncertain significance	X	49075159	49075159	Human	1	name
14703247	CV650099	single nucleotide variant	NM_001029896.2(WDR45):c.695G>A (p.Arg232His)	Neurodegeneration with brain iron accumulation 5 [RCV000792874]\|See cases [RCV001420217]\|not provided [RCV003325517]	pathogenic\|likely pathogenic\|uncertain significance	X	49075575	49075575	Human	1	name
14712757	CV650100	single nucleotide variant	NM_001029896.2(WDR45):c.389A>C (p.Asp130Ala)	Inborn genetic diseases [RCV002372348]\|Neurodegeneration with brain iron accumulation 5 [RCV000821877]	likely benign\|uncertain significance	X	49076477	49076477	Human	2	name
21068672	CV793888	single nucleotide variant	NM_001029896.2(WDR45):c.694C>T (p.Arg232Cys)	Intellectual disability [RCV001260809]\|Neurodegeneration with brain iron accumulation 5 [RCV002549839]\|not provided [RCV000993551]	likely pathogenic\|uncertain significance	X	49075576	49075576	Human	3	name
21405113	CV801228	deletion	NM_001029896.2(WDR45):c.69_75del (p.Cys23fs)	Dystonic disorder [RCV001004011]	pathogenic	X	49077892	49077898	Human	3	name
26897971	CV822227	single nucleotide variant	NM_001029896.2(WDR45):c.836G>A (p.Arg279His)	Inborn genetic diseases [RCV004962996]\|Neurodegeneration with brain iron accumulation 5 [RCV001034373]	likely benign	X	49075273	49075273	Human	2	name
26913183	CV850117	deletion	NM_001029896.2(WDR45):c.1027del (p.Cys343fs)	Neurodegeneration with brain iron accumulation 5 [RCV001054071]	likely pathogenic	X	49074859	49074859	Human	1	name
38475028	CV929758	duplication	NM_001029896.2(WDR45):c.1029dup (p.Asn344fs)	Neurodegeneration with brain iron accumulation 5 [RCV001214992]	pathogenic\|uncertain significance	X	49074856	49074857	Human	1	name
38476217	CV929759	single nucleotide variant	NM_001029896.2(WDR45):c.911C>T (p.Ala304Val)	Neurodegeneration with brain iron accumulation 5 [RCV001215541]	uncertain significance	X	49075198	49075198	Human	1	name
38467678	CV939618	single nucleotide variant	NM_001029896.2(WDR45):c.773A>C (p.Lys258Thr)	Neurodegeneration with brain iron accumulation 5 [RCV001202070]	uncertain significance	X	49075418	49075418	Human	1	name
38483449	CV951817	single nucleotide variant	NM_001029896.2(WDR45):c.604C>T (p.Gln202Ter)	Neurodegeneration with brain iron accumulation 5 [RCV001235930]	pathogenic	X	49075666	49075666	Human	1	name
38490076	CV951818	single nucleotide variant	NM_001029896.2(WDR45):c.388G>A (p.Asp130Asn)	Neurodegeneration with brain iron accumulation 5 [RCV001238685]	likely benign\|uncertain significance	X	49076478	49076478	Human	1	name
38474830	CV951819	single nucleotide variant	NM_001029896.2(WDR45):c.346G>A (p.Val116Met)	Neurodegeneration with brain iron accumulation 5 [RCV001232356]	likely benign\|uncertain significance	X	49076520	49076520	Human	1	name
38483666	CV951820	single nucleotide variant	NM_001029896.2(WDR45):c.326G>A (p.Arg109His)	Inborn genetic diseases [RCV002322129]\|Neurodegeneration with brain iron accumulation 5 [RCV001236016]	likely benign\|uncertain significance	X	49076660	49076660	Human	2	name
38598400	CV964616	single nucleotide variant	NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter)	Neurodegeneration with brain iron accumulation 5 [RCV001253570]\|not provided [RCV004809547]	pathogenic	X	49075244	49075244	Human	1	name
38598483	CV964618	single nucleotide variant	NM_001029896.2(WDR45):c.476T>C (p.Leu159Pro)	Neurodegeneration with brain iron accumulation 5 [RCV001253656]	likely pathogenic	X	49075906	49075906	Human	1	name
39456584	CV965768	deletion	NM_001029896.2(WDR45):c.81_82del (p.Gly28fs)	Global developmental delay [RCV001255399]	pathogenic	X	49077885	49077886	Human	2	name
40814619	CV969517	single nucleotide variant	NM_001029896.2(WDR45):c.695G>T (p.Arg232Leu)	Intellectual disability [RCV001260858]	uncertain significance	X	49075575	49075575	Human	2	name
42723782	CV984716	single nucleotide variant	NM_001029896.2(WDR45):c.826G>A (p.Ala276Thr)	Neurodegeneration with brain iron accumulation 5 [RCV001291803]	uncertain significance	X	49075365	49075365	Human	1	name
126760903	CV999812	single nucleotide variant	NM_001029896.2(WDR45):c.809G>A (p.Arg270His)	Neurodegeneration with brain iron accumulation 5 [RCV001309442]	uncertain significance	X	49075382	49075382	Human	1	name
126922596	CV1052460	single nucleotide variant	NM_001029896.2(WDR45):c.1048G>A (p.Val350Met)	Neurodegeneration with brain iron accumulation 5 [RCV001364856]	uncertain significance	X	49074838	49074838	Human	1	name
126921310	CV1052461	single nucleotide variant	NM_001029896.2(WDR45):c.1021G>A (p.Gly341Arg)	Neurodegeneration with brain iron accumulation 5 [RCV001363405]	uncertain significance	X	49074865	49074865	Human	1	name
151773951	CV1424158	single nucleotide variant	NM_001029896.2(WDR45):c.1051T>C (p.Tyr351His)	Neurodegeneration with brain iron accumulation 5 [RCV002045511]\|not provided [RCV005251310]	likely benign\|uncertain significance	X	49074835	49074835	Human	1	name
152038370	CV1524156	single nucleotide variant	NM_001029896.2(WDR45):c.1039G>T (p.Ala347Ser)	Neurodegeneration with brain iron accumulation 5 [RCV002125711]	likely benign	X	49074847	49074847	Human	1	name
155719422	CV1837365	single nucleotide variant	NM_001029896.2(WDR45):c.1045G>A (p.Asp349Asn)	Inborn genetic diseases [RCV002398652]\|Neurodegeneration with brain iron accumulation 5 [RCV002471284]	uncertain significance	X	49074841	49074841	Human	2	name
10407012	CV209072	single nucleotide variant	NM_001029896.2(WDR45):c.1030A>G (p.Asn344Asp)	Neurodegeneration with brain iron accumulation 5 [RCV000195088]	likely pathogenic	X	49074856	49074856	Human	1	name
405233227	CV2993802	single nucleotide variant	NM_001029896.2(WDR45):c.1012A>G (p.Thr338Ala)	Neurodegeneration with brain iron accumulation 5 [RCV003735308]	uncertain significance	X	49074874	49074874	Human	1	name
405233036	CV2995091	single nucleotide variant	NM_001029896.2(WDR45):c.1063T>G (p.Cys355Gly)	Neurodegeneration with brain iron accumulation 5 [RCV003735268]	uncertain significance	X	49074823	49074823	Human	1	name
14704557	CV650096	single nucleotide variant	NM_001029896.2(WDR45):c.1036G>T (p.Glu346Ter)	Neurodegeneration with brain iron accumulation 5 [RCV000797757]	pathogenic\|uncertain significance	X	49074850	49074850	Human	1	name
14712488	CV650097	single nucleotide variant	NM_001029896.2(WDR45):c.1005T>A (p.Tyr335Ter)	Neurodegeneration with brain iron accumulation 5 [RCV000820924]	pathogenic	X	49074881	49074881	Human	1	name
38476288	CV939617	single nucleotide variant	NM_001029896.2(WDR45):c.1005T>G (p.Tyr335Ter)	Neurodegeneration with brain iron accumulation 5 [RCV001204597]	pathogenic	X	49074881	49074881	Human	1	name
10450094	CV215663	microsatellite	NM_001029896.2(WDR45):c.158TGG[1] (p.Val54del)	Neurodegeneration with brain iron accumulation 5 [RCV000203242]\|X-linked cerebral-cerebellar-coloboma syndrome syndrome [RCV000679877]	likely pathogenic\|uncertain significance	X	49077715	49077717	Human		name
156364344	CV2187020	microsatellite	NM_001029896.2(WDR45):c.194TGG[1] (p.Val66del)	Neurodegeneration with brain iron accumulation 5 [RCV003065847]	uncertain significance	X	49077679	49077681	Human		name
402497540	CV2901901	microsatellite	NM_001029896.2(WDR45):c.228_229del (p.Glu76fs)	Neurodegeneration with brain iron accumulation 5 [RCV003573565]	pathogenic	X	49077649	49077650	Human		name
26922888	CV850120	deletion	NM_001029896.2(WDR45):c.226_230del (p.Glu76fs)	Neurodegeneration with brain iron accumulation 5 [RCV001062938]	pathogenic	X	49077648	49077652	Human	1	name
127249775	CV1065444	microsatellite	NM_001029896.2(WDR45):c.797_798del (p.Leu266fs)	Neurodegeneration with brain iron accumulation 5 [RCV001385179]	pathogenic	X	49075393	49075394	Human		name
127268130	CV1065445	deletion	NM_001029896.2(WDR45):c.332_338del (p.Arg111fs)	Neurodegeneration with brain iron accumulation 5 [RCV001382098]	pathogenic	X	49076648	49076654	Human	1	name
151823034	CV1466204	deletion	NM_001029896.2(WDR45):c.579_586del (p.Asp194fs)	Neurodegeneration with brain iron accumulation 5 [RCV001879400]	pathogenic	X	49075684	49075691	Human		name
155642516	CV1707449	duplication	NM_001029896.2(WDR45):c.787_790dup (p.Phe264fs)	Neurodegeneration with brain iron accumulation 5 [RCV002288379]	pathogenic	X	49075400	49075401	Human	1	name
156349360	CV1878268	microsatellite	NM_001029896.2(WDR45):c.879_880del (p.Gln294fs)	Inborn genetic diseases [RCV003064721]\|Neurodegeneration with brain iron accumulation 5 [RCV003064720]\|not provided [RCV004809888]	pathogenic	X	49075229	49075230	Human		name
155923786	CV2099448	deletion	NM_001029896.2(WDR45):c.922_928del (p.Cys308fs)	Neurodegeneration with brain iron accumulation 5 [RCV002903472]	pathogenic	X	49075181	49075187	Human	1	name
156371674	CV2174612	deletion	NM_001029896.2(WDR45):c.865_874del (p.Gln289fs)	Neurodegeneration with brain iron accumulation 5 [RCV003049749]	pathogenic	X	49075235	49075244	Human	1	name
11632890	CV264899	microsatellite	NM_001029896.2(WDR45):c.667_668del (p.Gln223fs)	Neurodegeneration with brain iron accumulation 5 [RCV001388846]\|not provided [RCV000294806]	pathogenic	X	49075602	49075603	Human		name
11633520	CV265025	deletion	NM_001029896.2(WDR45):c.771_772del (p.Asp257fs)	not provided [RCV000344935]	pathogenic	X	49075419	49075420	Human		name
11633727	CV265165	deletion	NM_001029896.2(WDR45):c.584_585del (p.Ile195fs)	Neurodegeneration with brain iron accumulation 5 [RCV000850623]\|not provided [RCV000362414]	pathogenic	X	49075685	49075686	Human	1	name
401798473	CV2741461	microsatellite	NM_001029896.2(WDR45):c.498_499del (p.Cys166fs)	Neurodegeneration with brain iron accumulation 5 [RCV003322679]	likely pathogenic	X	49075883	49075884	Human		name
401933796	CV2799550	duplication	NM_001029896.2(WDR45):c.558_561dup (p.Ile188fs)	WDR45-related disorder [RCV003410586]	pathogenic	X	49075708	49075709	Human		name , trait , alternate_id
405232490	CV2965459	microsatellite	NM_001029896.2(WDR45):c.905_906del (p.Val302fs)	Neurodegeneration with brain iron accumulation 5 [RCV003735150]	pathogenic	X	49075203	49075204	Human		name
405232513	CV2972602	deletion	NM_001029896.2(WDR45):c.490_493del (p.His164fs)	Neurodegeneration with brain iron accumulation 5 [RCV003735155]	pathogenic	X	49075889	49075892	Human	1	name
405233483	CV3010437	deletion	NM_001029896.2(WDR45):c.406_409del (p.Phe136fs)	Neurodegeneration with brain iron accumulation 5 [RCV003735366]	pathogenic	X	49076457	49076460	Human	1	name
596925122	CV3541838	deletion	NM_001029896.2(WDR45):c.967_968del (p.Val323fs)	Neurodegeneration with brain iron accumulation 5 [RCV004795550]\|not provided [RCV005250373]	pathogenic\|likely pathogenic	X	49075141	49075142	Human	1	name
616933611	CV4013509	deletion	NM_001029896.2(WDR45):c.941_950del (p.Arg314fs)	Neurodegeneration with brain iron accumulation 5 [RCV005411071]	pathogenic	X	49075159	49075168	Human	1	name
12895544	CV411396	microsatellite	NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del)	Inborn genetic diseases [RCV001266673]\|Neurodegeneration with brain iron accumulation 5 [RCV001242357]\|not provided [RCV000486845]	pathogenic\|likely pathogenic	X	49075440	49075442	Human		name
13509342	CV481507	duplication	NM_001029896.2(WDR45):c.950_951dup (p.Lys318fs)	Neurodegeneration with brain iron accumulation 5 [RCV000578356]	likely pathogenic	X	49075157	49075158	Human	1	name
13611733	CV514810	deletion	NM_001029896.2(WDR45):c.680_689del (p.Lys227fs)	not provided [RCV000627654]	pathogenic	X	49075581	49075590	Human		name
13808524	CV572523	duplication	NM_001029896.2(WDR45):c.210_213dup (p.Pro72Ter)	Neurodegeneration with brain iron accumulation 5 [RCV000687313]	pathogenic	X	49077664	49077665	Human	1	name
14397393	CV613264	deletion	NM_001029896.2(WDR45):c.766_794del (p.Asp257fs)	not provided [RCV000762635]	pathogenic\|likely pathogenic	X	49075397	49075425	Human		name
38461539	CV920034	microsatellite	NM_001029896.2(WDR45):c.598_599del (p.Leu200fs)	Neurodegeneration with brain iron accumulation 5 [RCV001197735]	likely pathogenic	X	49075671	49075672	Human		name
38598068	CV964617	deletion	NM_001029896.2(WDR45):c.787_800del (p.Ile263fs)	Intellectual disability [RCV001255354]\|Neurodegeneration with brain iron accumulation 5 [RCV001253381]	pathogenic	X	49075391	49075404	Human	3	name
38598864	CV964905	deletion	NM_001029896.2(WDR45):c.371_372del (p.Tyr124fs)	Neurodegeneration with brain iron accumulation 5 [RCV001254141]\|not provided [RCV001587293]	pathogenic	X	49076494	49076495	Human	1	name
40889425	CV975633	deletion	NM_001029896.2(WDR45):c.798_817del (p.Lys267fs)	not provided [RCV001267973]	pathogenic	X	49075374	49075393	Human		name
151233261	CV1320181	insertion	NM_001029896.2(WDR45):c.891_892insT (p.Ala298fs)	Neurodegeneration with brain iron accumulation 5 [RCV001799571]	pathogenic	X	49075217	49075218	Human	1	name
151752592	CV1508554	deletion	NM_001029896.2(WDR45):c.380_382del (p.Ser127del)	Neurodegeneration with brain iron accumulation 5 [RCV001986444]	likely pathogenic	X	49076484	49076486	Human	1	name
156154337	CV2150697	microsatellite	NM_001029896.2(WDR45):c.1065TGA[3] (p.Asp359del)	Neurodegeneration with brain iron accumulation 5 [RCV003022965]	uncertain significance	X	49074810	49074812	Human		name
401828991	CV2417730	deletion	NM_001029896.2(WDR45):c.305_307del (p.Thr102del)	Neurodegeneration with brain iron accumulation 5 [RCV003326676]	likely pathogenic	X	49076679	49076681	Human	1	name
408393134	CV3528372	deletion	NM_001029896.2(WDR45):c.969_971del (p.Ile324del)	not provided [RCV004776140]	uncertain significance	X	49075138	49075140	Human		name
13519303	CV486482	inversion	NM_001029896.2(WDR45):c.745_746inv (p.Ser249Asp)	Neurodegeneration with brain iron accumulation 5 [RCV000816007]\|not provided [RCV000585552]	uncertain significance	X	49075445	49075446	Human		name
151709737	CV1361010	microsatellite	NM_001029896.2(WDR45):c.1037_1038del (p.Glu346fs)	Neurodegeneration with brain iron accumulation 5 [RCV001889113]	pathogenic	X	49074848	49074849	Human		name
156108859	CV2140044	deletion	NM_001029896.2(WDR45):c.1010_1011del (p.Phe337fs)	Neurodegeneration with brain iron accumulation 5 [RCV003002506]	pathogenic	X	49074875	49074876	Human	1	name
8571229	CV51080	microsatellite	NM_001029896.2(WDR45):c.1004_1005del (p.Tyr335fs)	Neurodegeneration with brain iron accumulation 5 [RCV000034828]\|See cases [RCV002251946]\|not provided [RCV000413002]	pathogenic	X	49074881	49074882	Human		name
402524598	CV2907148	insertion	NM_001029896.2(WDR45):c.109_110insACCT (p.Leu37fs)	Neurodegeneration with brain iron accumulation 5 [RCV003576090]	pathogenic	X	49077857	49077858	Human	1	name
408368217	CV3499729	indel	NM_001029896.2(WDR45):c.229_230delinsC (p.Ile77fs)	Neurodegeneration with brain iron accumulation 5 [RCV004723630]	pathogenic	X	49077648	49077649	Human		name
40889914	CV975632	insertion	NM_001029896.2(WDR45):c.872_873insCCGT (p.Asp292fs)	not provided [RCV001268432]	pathogenic	X	49075236	49075237	Human		name
156244786	CV2207344	indel	NM_001029896.2(WDR45):c.500_501delinsAT (p.Gly167Asp)	Inborn genetic diseases [RCV002702068]	uncertain significance	X	49075881	49075882	Human		name
156186579	CV1867243	deletion	NM_001029896.2(WDR45):c.616del (p.Thr205_Val206insTer)	not provided [RCV002508889]	pathogenic	X	49075654	49075654	Human		name
616933609	CV4013511	deletion	NM_001029896.2(WDR45):c.346del (p.Ile115_Val116insTer)	Neurodegeneration with brain iron accumulation 5 [RCV005411073]	pathogenic	X	49076520	49076520	Human	1	name
40814671	CV971209	indel	NM_001029896.2(WDR45):c.982_984delinsTTG (p.Val328Leu)	Neurodegeneration with brain iron accumulation 5 [RCV001262199]	likely benign	X	49074902	49074904	Human		name
401720898	CV2737350	deletion	NM_001029896.2(WDR45):c.773_787del (p.Lys258_His262del)	Neurodegeneration with brain iron accumulation 5 [RCV003314289]	uncertain significance	X	49075404	49075418	Human	1	name
405233095	CV2995575	deletion	NM_001029896.2(WDR45):c.958_963del (p.Val320_Asn321del)	Neurodegeneration with brain iron accumulation 5 [RCV003735280]	uncertain significance	X	49075146	49075151	Human	1	name
598125880	CV3883329	deletion	NM_001029896.2(WDR45):c.51_53del (p.Asp17_Gln18delinsGlu)	Neurodegeneration with brain iron accumulation 5 [RCV005233200]	likely pathogenic	X	49078043	49078045	Human	1	name
13816213	CV574746	microsatellite	NM_001029896.2(WDR45):c.405GTTTGA[1] (p.Glu137_Phe138del)	Neurodegeneration with brain iron accumulation 5 [RCV000692175]\|not provided [RCV003332232]	likely pathogenic	X	49076450	49076455	Human		name
408387676	CV3518941	duplication	NM_001029896.2(WDR45):c.987_989dup (p.Gly330_Thr331insGly)	not provided [RCV004761260]	uncertain significance	X	49074896	49074897	Human		name
13827492	CV578594	microsatellite	NM_001029896.2(WDR45):c.657_658del (p.Leu219_Phe220insTer)	Neurodegeneration with brain iron accumulation 5 [RCV000714536]	likely pathogenic	X	49075612	49075613	Human		name
28883988	CV860888	deletion	NM_001029896.2(WDR45):c.659_660del (p.Leu219_Phe220insTer)	Neurodegeneration with brain iron accumulation 5 [RCV003128264]\|not provided [RCV001091502]	pathogenic	X	49075610	49075611	Human	1	name
408386130	CV3496727	duplication	NM_001029896.2(WDR45):c.1005_1007dup (p.Val336_Phe337insVal)	Neurodegeneration with brain iron accumulation 5 [RCV004767680]	likely pathogenic	X	49074878	49074879	Human	1	name
156382480	CV2367276	duplication	NM_001029896.2(WDR45):c.168_176dup (p.Arg59_Ser60insLeuHisArg)	Inborn genetic diseases [RCV002678973]	uncertain significance	X	49077701	49077702	Human	1	name
126741554	CV1018396	single nucleotide variant	NM_019613.4(WDR45B):c.68-1G>A	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures [RCV001329722]	pathogenic	17	82644024	82644024	Human		name
15103759	CV731200	single nucleotide variant	NM_019613.4(WDR45B):c.68-9C>T	not provided [RCV000892743]	benign	17	82644032	82644032	Human		name
152980834	CV1676158	single nucleotide variant	NM_019613.4(WDR45B):c.807-11T>C	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures [RCV002245233]\|not provided [RCV004710435]	benign	17	82616656	82616656	Human	1	name
152980835	CV1676159	single nucleotide variant	NM_019613.4(WDR45B):c.332+47A>T	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures [RCV002245234]\|not provided [RCV004710436]	benign	17	82627157	82627157	Human	1	name
150417951	CV1181596	indel	NM_019613.4(WDR45B):c.619-12_619-10delinsCGG	not provided [RCV001550383]	uncertain significance	17	82619138	82619140	Human		name
401935935	CV2818134	single nucleotide variant	NM_019613.4(WDR45B):c.12G>A (p.Leu4=)	WDR45B-related disorder [RCV003946565]\|not provided [RCV003413399]	benign\|likely benign	17	82648329	82648329	Human	1	name , trait , alternate_id
405294152	CV3203522	single nucleotide variant	NM_019613.4(WDR45B):c.21C>T (p.Asn7=)	WDR45B-related disorder [RCV003934049]	likely benign	17	82648320	82648320	Human		name , trait , alternate_id
15140709	CV741253	single nucleotide variant	NM_019613.4(WDR45B):c.45C>T (p.Tyr15=)	not provided [RCV000899365]	likely benign	17	82648296	82648296	Human		name
15104073	CV785831	single nucleotide variant	NM_019613.4(WDR45B):c.78G>A (p.Ala26=)	not provided [RCV000976144]	likely benign	17	82644013	82644013	Human		name
15129243	CV715859	single nucleotide variant	NM_019613.4(WDR45B):c.17G>A (p.Cys6Tyr)	not provided [RCV000964226]	benign\|likely benign	17	82648324	82648324	Human		name
150528968	CV1288589	single nucleotide variant	NM_019613.4(WDR45B):c.534C>T (p.Pro178=)	not provided [RCV001727057]	likely benign	17	82621693	82621693	Human		name
598257641	CV3933235	single nucleotide variant	NM_019613.4(WDR45B):c.34G>T (p.Gly12Trp)	Inborn genetic diseases [RCV005299867]	uncertain significance	17	82648307	82648307	Human	1	name
15191390	CV704520	single nucleotide variant	NM_019613.4(WDR45B):c.942C>T (p.Asp314=)	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures [RCV002502966]\|not provided [RCV000954762]	benign\|likely benign	17	82616012	82616012	Human	1	name
15182627	CV727601	single nucleotide variant	NM_019613.4(WDR45B):c.918C>T (p.Asn306=)	not provided [RCV000886035]	likely benign	17	82616534	82616534	Human		name
15100958	CV727602	single nucleotide variant	NM_019613.4(WDR45B):c.747C>T (p.Ser249=)	not provided [RCV000892199]	benign	17	82617355	82617355	Human		name
127261690	CV1087398	single nucleotide variant	NM_019613.4(WDR45B):c.106T>C (p.Tyr36His)	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures [RCV001420588]	uncertain significance	17	82643985	82643985	Human	1	name
155980285	CV2263637	single nucleotide variant	NM_019613.4(WDR45B):c.199G>A (p.Ala67Thr)	Inborn genetic diseases [RCV002818513]	uncertain significance	17	82630966	82630966	Human	1	name
243062054	CV2414260	single nucleotide variant	NM_019613.4(WDR45B):c.281T>C (p.Ile94Thr)	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures [RCV003139329]	uncertain significance	17	82627255	82627255	Human	1	name
401829027	CV2668610	single nucleotide variant	NM_019613.4(WDR45B):c.100C>T (p.Arg34Ter)	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures [RCV003326702]	likely pathogenic	17	82643991	82643991	Human	1	name
401774228	CV2691562	single nucleotide variant	NM_019613.4(WDR45B):c.101G>A (p.Arg34Gln)	Inborn genetic diseases [RCV003285677]	uncertain significance	17	82643990	82643990	Human	1	name
407523957	CV3489802	single nucleotide variant	NM_019613.4(WDR45B):c.107A>G (p.Tyr36Cys)	Inborn genetic diseases [RCV004678249]	uncertain significance	17	82643984	82643984	Human	1	name
597630676	CV3633635	single nucleotide variant	NM_019613.4(WDR45B):c.166C>G (p.His56Asp)	Inborn genetic diseases [RCV004967374]	uncertain significance	17	82630999	82630999	Human	1	name
598257646	CV3933236	single nucleotide variant	NM_019613.4(WDR45B):c.112A>G (p.Thr38Ala)	Inborn genetic diseases [RCV005299868]	uncertain significance	17	82643979	82643979	Human	1	name
153001474	CV1684189	single nucleotide variant	NM_019613.4(WDR45B):c.677G>C (p.Arg226Thr)	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures [RCV002255115]	uncertain significance	17	82619070	82619070	Human	1	name
10045130	CV188893	single nucleotide variant	NM_019613.4(WDR45B):c.673C>T (p.Arg225Ter)	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures [RCV000627096]\|not provided [RCV000171267]	pathogenic\|likely pathogenic	17	82619074	82619074	Human	1	name
156147196	CV2196938	single nucleotide variant	NM_019613.4(WDR45B):c.521C>T (p.Thr174Met)	Inborn genetic diseases [RCV002641646]	uncertain significance	17	82621706	82621706	Human	1	name
156152601	CV2245379	single nucleotide variant	NM_019613.4(WDR45B):c.323G>A (p.Arg108Gln)	Inborn genetic diseases [RCV002786985]	uncertain significance	17	82627213	82627213	Human	1	name
329385522	CV2451516	single nucleotide variant	NM_019613.4(WDR45B):c.707T>C (p.Ile236Thr)	Inborn genetic diseases [RCV003214459]	uncertain significance	17	82617395	82617395	Human	1	name
329363823	CV2469398	single nucleotide variant	NM_019613.4(WDR45B):c.298A>G (p.Thr100Ala)	Inborn genetic diseases [RCV003206510]	uncertain significance	17	82627238	82627238	Human	1	name
405807048	CV3356229	single nucleotide variant	NM_019613.4(WDR45B):c.739G>A (p.Val247Ile)	Inborn genetic diseases [RCV004480489]	uncertain significance	17	82617363	82617363	Human	1	name
405807050	CV3356230	single nucleotide variant	NM_019613.4(WDR45B):c.968A>G (p.Asn323Ser)	Inborn genetic diseases [RCV004480490]	uncertain significance	17	82615986	82615986	Human	1	name
407465297	CV3489803	single nucleotide variant	NM_019613.4(WDR45B):c.396G>T (p.Leu132Phe)	Inborn genetic diseases [RCV004688733]	uncertain significance	17	82625420	82625420	Human	1	name
13611876	CV514319	single nucleotide variant	NM_019613.4(WDR45B):c.799C>T (p.Gln267Ter)	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures [RCV000627097]	pathogenic	17	82617303	82617303	Human	1	name
401779701	CV2731972	single nucleotide variant	NM_019613.4(WDR45B):c.1000G>A (p.Ala334Thr)	Inborn genetic diseases [RCV003307316]	uncertain significance	17	82615954	82615954	Human	1	name

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