ClinVar for MedGen (Select 763887) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26268561.	NM_001029896.2(WDR45):c.618dup (p.Val207fs) GRCh37: ChrX:48933310-48933311 GRCh38: ChrX:49075651-49075652	WDR45	V207fs, V208fs	Neurodegeneration with brain iron accumulation 5	Pathogenic (Jan 27, 2023)	criteria provided, single submitter
Select item 25765642.	NM_001029896.2(WDR45):c.498_499del (p.Cys166fs) GRCh37: ChrX:48933542-48933543 GRCh38: ChrX:49075883-49075884	WDR45	C166fs, C167fs	Neurodegeneration with brain iron accumulation 5	Likely pathogenic (Jul 26, 2023)	criteria provided, single submitter
Select item 25724043.	NM_001029896.2(WDR45):c.773_787del (p.Lys258_His262del) GRCh37: ChrX:48933063-48933077 GRCh38: ChrX:49075404-49075418	WDR45		Neurodegeneration with brain iron accumulation 5	Uncertain significance	criteria provided, single submitter
Select item 25706514.	NM_001029896.2(WDR45):c.516+5G>A GRCh37: ChrX:48933520 GRCh38: ChrX:49075861	WDR45		Neurodegeneration with brain iron accumulation 5	Likely pathogenic	criteria provided, single submitter
Select item 24443985.	NM_001029896.2(WDR45):c.892del (p.Ala298fs) GRCh37: ChrX:48932876 GRCh38: ChrX:49075217	WDR45	A298fs, A299fs	Neurodegeneration with brain iron accumulation 5	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24440426.	NM_001029896.2(WDR45):c.437-2A>T GRCh37: ChrX:48933606 GRCh38: ChrX:49075947	WDR45		Neurodegeneration with brain iron accumulation 5	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24439957.	NM_001029896.2(WDR45):c.305_307del (p.Thr102del) GRCh37: ChrX:48934338-48934340 GRCh38: ChrX:49076679-49076681	WDR45	T102del, T103del	Neurodegeneration with brain iron accumulation 5	Likely pathogenic (Oct 17, 2023)	criteria provided, single submitter
Select item 24423638.	NM_001029896.2(WDR45):c.641G>A (p.Gly214Asp) GRCh37: ChrX:48933288 GRCh38: ChrX:49075629	WDR45	G214D, G215D	Neurodegeneration with brain iron accumulation 5	Likely pathogenic (Jul 15, 2020)	criteria provided, single submitter
Select item 24346369.	NM_001029896.2(WDR45):c.130+1G>T GRCh37: ChrX:48935495 GRCh38: ChrX:49077836	LOC126863256, WDR45		Neurodegeneration with brain iron accumulation 5	Likely pathogenic (Nov 13, 2022)	criteria provided, single submitter
Select item 243144510.	NM_001029896.2(WDR45):c.632C>T (p.Ser211Phe) GRCh37: ChrX:48933297 GRCh38: ChrX:49075638	WDR45	S211F, S212F	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Feb 6, 2023)	criteria provided, single submitter
Select item 242568411.	NC_000023.10:g.(?_48932462)_(48935755_?)del GRCh37: ChrX:48932462-48935755	WDR45		Neurodegeneration with brain iron accumulation 5	Pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 242358112.	NC_000023.10:g.(?_47001716)_(50659607_?)dup GRCh37: ChrX:47001716-50659607	AKAP4, ARAF, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CDK16, CFP, CLCN5, DGKK, EBP, ELK1, ERAS, FOXP3, FTSJ1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, INE1, KCND1, LINC01560, MAGIX, MIR502, MIR532, NDUFB11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM10, RBM3, SHROOM4, SLC35A2, SLC38A5, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SUV39H1, SYN1, SYP, TBC1D25, TFE3, TIMM17B, TIMP1, UBA1, USP11, USP27X, UXT, WAS, WDR13, WDR45, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81		Neurodegeneration with brain iron accumulation 5, SLC35A2-congenital disorder of glycosylation, Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 220203913.	NM_001029896.2(WDR45):c.974-14C>G GRCh37: ChrX:48932585 GRCh38: ChrX:49074926	WDR45		Neurodegeneration with brain iron accumulation 5	Benign (Sep 15, 2022)	criteria provided, single submitter
Select item 220143914.	NM_001029896.2(WDR45):c.283C>T (p.Leu95=) GRCh37: ChrX:48934362 GRCh38: ChrX:49076703	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 219733215.	NM_001029896.2(WDR45):c.502A>T (p.Ser168Cys) GRCh37: ChrX:48933539 GRCh38: ChrX:49075880	WDR45	S168C, S169C	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 218375316.	NM_001029896.2(WDR45):c.517G>A (p.Asp173Asn) GRCh37: ChrX:48933412 GRCh38: ChrX:49075753	WDR45	D173N, D174N	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 217084617.	NM_001029896.2(WDR45):c.974-14C>A GRCh37: ChrX:48932585 GRCh38: ChrX:49074926	WDR45		Neurodegeneration with brain iron accumulation 5	Benign (Mar 18, 2022)	criteria provided, single submitter
Select item 216964718.	NM_001029896.2(WDR45):c.64del (p.Cys22fs) GRCh37: ChrX:48935562 GRCh38: ChrX:49077903	LOC126863256, WDR45	C22fs	Neurodegeneration with brain iron accumulation 5	Pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 216689619.	NM_001029896.2(WDR45):c.698G>A (p.Arg233Gln) GRCh37: ChrX:48933231 GRCh38: ChrX:49075572	WDR45	R233Q, R234Q	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 216238320.	NM_001029896.2(WDR45):c.345C>T (p.Ile115=) GRCh37: ChrX:48934180 GRCh38: ChrX:49076521	WDR45		Neurodegeneration with brain iron accumulation 5	Benign (Jun 23, 2022)	criteria provided, single submitter
Select item 214993721.	NM_001029896.2(WDR45):c.974-11C>G GRCh37: ChrX:48932582 GRCh38: ChrX:49074923	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 214764322.	NM_001029896.2(WDR45):c.437-19C>G GRCh37: ChrX:48933623 GRCh38: ChrX:49075964	WDR45		Neurodegeneration with brain iron accumulation 5	Benign (Sep 7, 2022)	criteria provided, single submitter
Select item 213857323.	NM_001029896.2(WDR45):c.879_880del (p.Gln294fs) GRCh37: ChrX:48932888-48932889 GRCh38: ChrX:49075229-49075230	WDR45	Q294fs, Q295fs	Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5	Pathogenic (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213430124.	NM_001029896.2(WDR45):c.194TGG[1] (p.Val66del) GRCh37: ChrX:48935338-48935340 GRCh38: ChrX:49077679-49077681	LOC126863256, WDR45	V66del	Neurodegeneration with brain iron accumulation 5	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 213268325.	NM_001029896.2(WDR45):c.827+5G>T GRCh37: ChrX:48933018 GRCh38: ChrX:49075359	WDR45		Neurodegeneration with brain iron accumulation 5	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213008626.	NM_001029896.2(WDR45):c.687G>A (p.Val229=) GRCh37: ChrX:48933242 GRCh38: ChrX:49075583	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 212840227.	NM_001029896.2(WDR45):c.341A>T (p.Lys114Met) GRCh37: ChrX:48934304 GRCh38: ChrX:49076645	WDR45	K114M, K115M	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 212578128.	NM_001029896.2(WDR45):c.865_874del (p.Gln289fs) GRCh37: ChrX:48932894-48932903 GRCh38: ChrX:49075235-49075244	WDR45	Q289fs, Q290fs	Neurodegeneration with brain iron accumulation 5	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 212118829.	NM_001029896.2(WDR45):c.167T>C (p.Met56Thr) GRCh37: ChrX:48935370 GRCh38: ChrX:49077711	LOC126863256, WDR45	M56T	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Apr 3, 2022)	criteria provided, single submitter
Select item 212096930.	NM_001029896.2(WDR45):c.56-8dup GRCh37: ChrX:48935577-48935578 GRCh38: ChrX:49077918-49077919	LOC126863256, WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 212050431.	NM_001029896.2(WDR45):c.928T>C (p.Cys310Arg) GRCh37: ChrX:48932840 GRCh38: ChrX:49075181	WDR45	C310R, C311R	Neurodegeneration with brain iron accumulation 5	Likely pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 211856632.	NM_001029896.2(WDR45):c.1064del (p.Cys355fs) GRCh37: ChrX:48932481 GRCh38: ChrX:49074822	WDR45	C355fs, C356fs	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 209937633.	NM_001029896.2(WDR45):c.1065TGA[3] (p.Asp359del) GRCh37: ChrX:48932469-48932471 GRCh38: ChrX:49074810-49074812	WDR45	D360del, D359del	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 209862334.	NM_001029896.2(WDR45):c.14C>T (p.Pro5Leu) GRCh37: ChrX:48935741 GRCh38: ChrX:49078082	LOC126863256, WDR45	P5L	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209566935.	NM_001029896.2(WDR45):c.236-14C>T GRCh37: ChrX:48934423 GRCh38: ChrX:49076764	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 209221636.	NM_001029896.2(WDR45):c.516G>A (p.Val172=) GRCh37: ChrX:48933525 GRCh38: ChrX:49075866	WDR45		Neurodegeneration with brain iron accumulation 5	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 208340437.	NM_001029896.2(WDR45):c.1010_1011del (p.Phe337fs) GRCh37: ChrX:48932534-48932535 GRCh38: ChrX:49074875-49074876	WDR45	F337fs, F338fs	Neurodegeneration with brain iron accumulation 5	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 207469238.	NM_001029896.2(WDR45):c.240G>A (p.Leu80=) GRCh37: ChrX:48934405 GRCh38: ChrX:49076746	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 207368139.	NM_001029896.2(WDR45):c.436+13A>C GRCh37: ChrX:48934076 GRCh38: ChrX:49076417	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 206483240.	NM_001029896.2(WDR45):c.130+20G>A GRCh37: ChrX:48935476 GRCh38: ChrX:49077817	LOC126863256, WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 206356741.	NM_001029896.2(WDR45):c.131-17C>A GRCh37: ChrX:48935423 GRCh38: ChrX:49077764	LOC126863256, WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 206204642.	NM_001029896.2(WDR45):c.256C>T (p.Arg86Trp) GRCh37: ChrX:48934389 GRCh38: ChrX:49076730	WDR45	R86W, R87W	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 205261743.	NM_001029896.2(WDR45):c.131-20A>G GRCh37: ChrX:48935426 GRCh38: ChrX:49077767	LOC126863256, WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 204415744.	NM_001029896.2(WDR45):c.922_928del (p.Cys308fs) GRCh37: ChrX:48932840-48932846 GRCh38: ChrX:49075181-49075187	WDR45	C309fs, C308fs	Neurodegeneration with brain iron accumulation 5	Pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 202198045.	NM_001029896.2(WDR45):c.390C>T (p.Asp130=) GRCh37: ChrX:48934135 GRCh38: ChrX:49076476	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 201472346.	NM_001029896.2(WDR45):c.725+12G>T GRCh37: ChrX:48933192 GRCh38: ChrX:49075533	WDR45		Neurodegeneration with brain iron accumulation 5	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 201408847.	NM_001029896.2(WDR45):c.156C>T (p.Gly52=) GRCh37: ChrX:48935381 GRCh38: ChrX:49077722	LOC126863256, WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 200849448.	NM_001029896.2(WDR45):c.1062C>A (p.Ile354=) GRCh37: ChrX:48932483 GRCh38: ChrX:49074824	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 199838349.	NM_001029896.2(WDR45):c.828-2A>G GRCh37: ChrX:48932942 GRCh38: ChrX:49075283	WDR45		Neurodegeneration with brain iron accumulation 5	Likely pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 199152150.	NM_001029896.2(WDR45):c.236-15C>T GRCh37: ChrX:48934424 GRCh38: ChrX:49076765	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 198140151.	NM_001029896.2(WDR45):c.517-17C>A GRCh37: ChrX:48933429 GRCh38: ChrX:49075770	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 197029052.	NM_001029896.2(WDR45):c.235+13A>G GRCh37: ChrX:48935289 GRCh38: ChrX:49077630	LOC126863256, WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 196603053.	NM_001029896.2(WDR45):c.742G>A (p.Asp248Asn) GRCh37: ChrX:48933108 GRCh38: ChrX:49075449	WDR45	D248N, D249N	Neurodegeneration with brain iron accumulation 5	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 192426554.	NM_001029896.2(WDR45):c.577A>T (p.Ser193Cys) GRCh37: ChrX:48933352 GRCh38: ChrX:49075693	WDR45	S193C, S194C	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 192258255.	NM_001029896.2(WDR45):c.236-7C>T GRCh37: ChrX:48934416 GRCh38: ChrX:49076757	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 190958356.	NM_001029896.2(WDR45):c.422G>A (p.Arg141Gln) GRCh37: ChrX:48934103 GRCh38: ChrX:49076444	WDR45	R141Q, R142Q	Neurodegeneration with brain iron accumulation 5	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 189761957.	NM_001029896.2(WDR45):c.437-18C>T GRCh37: ChrX:48933622 GRCh38: ChrX:49075963	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 177613558.	NM_001029896.2(WDR45):c.1045G>A (p.Asp349Asn) GRCh37: ChrX:48932500 GRCh38: ChrX:49074841	WDR45	D349N, D350N	Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172203459.	NM_001029896.2(WDR45):c.968T>A (p.Val323Asp) GRCh37: ChrX:48932800 GRCh38: ChrX:49075141	WDR45	V323D, V324D	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 172104160.	NM_001029896.2(WDR45):c.893C>T (p.Ala298Val) GRCh37: ChrX:48932875 GRCh38: ChrX:49075216	WDR45	A298V, A299V	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 171455861.	NM_001029896.2(WDR45):c.741C>A (p.His247Gln) GRCh37: ChrX:48933109 GRCh38: ChrX:49075450	WDR45	H247Q, H248Q	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 171380962.	NM_001029896.2(WDR45):c.981C>G (p.Cys327Trp) GRCh37: ChrX:48932564 GRCh38: ChrX:49074905	WDR45	C327W, C328W	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 170988363.	NM_001029896.2(WDR45):c.488del (p.Gly163fs) GRCh37: ChrX:48933553 GRCh38: ChrX:49075894	WDR45	G163fs, G164fs	Neurodegeneration with brain iron accumulation 5	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 170909564.	NM_001029896.2(WDR45):c.787_790dup (p.Phe264fs) GRCh37: ChrX:48933059-48933060 GRCh38: ChrX:49075400-49075401	WDR45	F264fs, F265fs	Neurodegeneration with brain iron accumulation 5	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 169894265.	NM_001029896.2(WDR45):c.2T>C (p.Met1Thr) GRCh37: ChrX:48935753 GRCh38: ChrX:49078094	LOC126863256, WDR45	M1T	not provided, Neurodegeneration with brain iron accumulation 5	Pathogenic (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169842266.	NM_001029896.2(WDR45):c.331C>T (p.Arg111Cys) GRCh37: ChrX:48934314 GRCh38: ChrX:49076655	WDR45	R111C, R112C	Neurodegeneration with brain iron accumulation 5	Uncertain significance (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168630567.	NM_001029896.2(WDR45):c.78_79del (p.Glu26fs) GRCh37: ChrX:48935547-48935548 GRCh38: ChrX:49077888-49077889	LOC126863256, WDR45	E26fs	Neurodegeneration with brain iron accumulation 5	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168630468.	NM_001029896.2(WDR45):c.130+1G>C GRCh37: ChrX:48935495 GRCh38: ChrX:49077836	LOC126863256, WDR45		Neurodegeneration with brain iron accumulation 5	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168630369.	NM_001029896.2(WDR45):c.785A>C (p.His262Pro) GRCh37: ChrX:48933065 GRCh38: ChrX:49075406	WDR45	H262P, H263P	Neurodegeneration with brain iron accumulation 5	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 165797570.	NM_001029896.2(WDR45):c.974-5C>T GRCh37: ChrX:48932576 GRCh38: ChrX:49074917	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 165674171.	NM_001029896.2(WDR45):c.561G>A (p.Thr187=) GRCh37: ChrX:48933368 GRCh38: ChrX:49075709	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 165031272.	NM_001029896.2(WDR45):c.232T>G (p.Ser78Ala) GRCh37: ChrX:48935305 GRCh38: ChrX:49077646	LOC126863256, WDR45	S78A	Neurodegeneration with brain iron accumulation 5	Likely benign (Feb 20, 2021)	criteria provided, single submitter
Select item 164508773.	NM_001029896.2(WDR45):c.837C>T (p.Arg279=) GRCh37: ChrX:48932931 GRCh38: ChrX:49075272	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (May 12, 2021)	criteria provided, single submitter
Select item 164034274.	NM_001029896.2(WDR45):c.786T>C (p.His262=) GRCh37: ChrX:48933064 GRCh38: ChrX:49075405	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 163881075.	NM_001029896.2(WDR45):c.974-15C>T GRCh37: ChrX:48932586 GRCh38: ChrX:49074927	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 163569476.	NM_001029896.2(WDR45):c.1039G>T (p.Ala347Ser) GRCh37: ChrX:48932506 GRCh38: ChrX:49074847	WDR45	A347S, A348S	Neurodegeneration with brain iron accumulation 5	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 162137977.	NM_001029896.2(WDR45):c.341+15G>A GRCh37: ChrX:48934289 GRCh38: ChrX:49076630	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Dec 10, 2020)	criteria provided, single submitter
Select item 161360478.	NM_001029896.2(WDR45):c.437-16C>G GRCh37: ChrX:48933620 GRCh38: ChrX:49075961	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 159625479.	NM_001029896.2(WDR45):c.974-14C>T GRCh37: ChrX:48932585 GRCh38: ChrX:49074926	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Aug 7, 2021)	criteria provided, single submitter
Select item 159309380.	NM_001029896.2(WDR45):c.402G>A (p.Lys134=) GRCh37: ChrX:48934123 GRCh38: ChrX:49076464	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Oct 7, 2021)	criteria provided, single submitter
Select item 159305681.	NM_001029896.2(WDR45):c.328A>G (p.Met110Val) GRCh37: ChrX:48934317 GRCh38: ChrX:49076658	WDR45	M110V, M111V	Neurodegeneration with brain iron accumulation 5	Likely benign (Oct 20, 2021)	criteria provided, single submitter
Select item 159254582.	NM_001029896.2(WDR45):c.516+8G>A GRCh37: ChrX:48933517 GRCh38: ChrX:49075858	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 159252483.	NM_001029896.2(WDR45):c.255C>T (p.Ala85=) GRCh37: ChrX:48934390 GRCh38: ChrX:49076731	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Oct 28, 2020)	criteria provided, single submitter
Select item 158152484.	NM_001029896.2(WDR45):c.735C>T (p.Phe245=) GRCh37: ChrX:48933115 GRCh38: ChrX:49075456	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 157817785.	NM_001029896.2(WDR45):c.962A>G (p.Asn321Ser) GRCh37: ChrX:48932806 GRCh38: ChrX:49075147	WDR45	N321S, N322S	Neurodegeneration with brain iron accumulation 5	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 157495686.	NM_001029896.2(WDR45):c.53A>G (p.Gln18Arg) GRCh37: ChrX:48935702 GRCh38: ChrX:49078043	LOC126863256, WDR45	Q18R	Neurodegeneration with brain iron accumulation 5	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 157456287.	NM_001029896.2(WDR45):c.725+10G>A GRCh37: ChrX:48933194 GRCh38: ChrX:49075535	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Jul 28, 2021)	criteria provided, single submitter
Select item 157211588.	NM_001029896.2(WDR45):c.726-12T>C GRCh37: ChrX:48933136 GRCh38: ChrX:49075477	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 156086189.	NM_001029896.2(WDR45):c.517-14C>T GRCh37: ChrX:48933426 GRCh38: ChrX:49075767	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 156025990.	NM_001029896.2(WDR45):c.516+7C>T GRCh37: ChrX:48933518 GRCh38: ChrX:49075859	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 155928291.	NM_001029896.2(WDR45):c.341+18C>G GRCh37: ChrX:48934286 GRCh38: ChrX:49076627	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Nov 27, 2021)	criteria provided, single submitter
Select item 155568992.	NM_001029896.2(WDR45):c.436+18C>T GRCh37: ChrX:48934071 GRCh38: ChrX:49076412	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 155565693.	NM_001029896.2(WDR45):c.648T>C (p.Leu216=) GRCh37: ChrX:48933281 GRCh38: ChrX:49075622	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 155491994.	NM_001029896.2(WDR45):c.981C>T (p.Cys327=) GRCh37: ChrX:48932564 GRCh38: ChrX:49074905	WDR45		Neurodegeneration with brain iron accumulation 5	Benign (Oct 24, 2022)	criteria provided, single submitter
Select item 154105595.	NM_001029896.2(WDR45):c.827+16C>T GRCh37: ChrX:48933007 GRCh38: ChrX:49075348	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 153851196.	NM_001029896.2(WDR45):c.527G>A (p.Ser176Asn) GRCh37: ChrX:48933402 GRCh38: ChrX:49075743	WDR45	S176N, S177N	Neurodegeneration with brain iron accumulation 5	Likely benign (Sep 17, 2021)	criteria provided, single submitter
Select item 153839397.	NM_001029896.2(WDR45):c.437-5C>T GRCh37: ChrX:48933609 GRCh38: ChrX:49075950	WDR45		Neurodegeneration with brain iron accumulation 5	Likely benign (Jan 12, 2022)	criteria provided, single submitter
Select item 153832098.	NM_001029896.2(WDR45):c.5C>T (p.Thr2Ile) GRCh37: ChrX:48935750 GRCh38: ChrX:49078091	LOC126863256, WDR45	T2I	Neurodegeneration with brain iron accumulation 5	Conflicting interpretations of pathogenicity (Aug 2, 2023)	criteria provided, conflicting interpretations
Select item 152040199.	NM_001029896.2(WDR45):c.947C>G (p.Thr316Ser) GRCh37: ChrX:48932821 GRCh38: ChrX:49075162	WDR45	T317S, T316S	not provided, Neurodegeneration with brain iron accumulation 5	Conflicting interpretations of pathogenicity (May 7, 2023)	criteria provided, conflicting interpretations
Select item 1519966100.	NM_001029896.2(WDR45):c.725+1G>T GRCh37: ChrX:48933203 GRCh38: ChrX:49075544	WDR45		Neurodegeneration with brain iron accumulation 5	Likely pathogenic (Nov 16, 2021)	criteria provided, single submitter

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