ClinVar for MedGen (Select 763887) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367085	NM_001029896.2(WDR45):c.436+3G>A	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 3362325	NM_001029896.2(WDR45):c.136G>C (p.Glu46Gln)	WDR45 (E46Q)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 3359125	NM_001029896.2(WDR45):c.437G>A (p.Gly146Glu)	WDR45 (G146E +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 3340488	NM_001029896.2(WDR45):c.229_230delinsC (p.Ile77fs)	LOC126863256, WDR45 (I77fs)	Indel (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 3338068	NM_001029896.2(WDR45):c.1005_1007dup (p.Val336_Phe337insVal)	WDR45	Duplication (inframe_insertion)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 3255609	NM_001029896.2(WDR45):c.342-2A>G	WDR45	Single nucleotide variant (splice acceptor variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 3062075	NM_001029896.2(WDR45):c.725+2T>A	WDR45	Single nucleotide variant (splice donor variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 3028894	NM_001029896.2(WDR45):c.1048del (p.Val350fs)	WDR45 (V350fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 3022919	NM_001029896.2(WDR45):c.256C>A (p.Arg86=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 3014825	NM_001029896.2(WDR45):c.431C>T (p.Pro144Leu)	WDR45 (P144L +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2984391	NM_001029896.2(WDR45):c.828-15C>T	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2982414	NM_001029896.2(WDR45):c.952A>C (p.Lys318Gln)	WDR45 (K319Q +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2979433	NM_001029896.2(WDR45):c.336T>A (p.His112Gln)	WDR45 (H113Q +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2960723	NM_001029896.2(WDR45):c.486G>A (p.Pro162=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2894124	NM_001029896.2(WDR45):c.56-11C>G	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2886420	NM_001029896.2(WDR45):c.282G>A (p.Lys94=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2856986	NM_001029896.2(WDR45):c.725+5_725+32del	WDR45	Deletion (splice donor variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2855605	NM_001029896.2(WDR45):c.234_235+1delinsC	LOC126863256, WDR45	Indel (splice donor variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 2854071	NM_001029896.2(WDR45):c.406_409del (p.Phe136fs)	WDR45 (F137fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2845952	NM_001029896.2(WDR45):c.973+1_973+3del	WDR45	Deletion (splice donor variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 2845161	NM_001029896.2(WDR45):c.55+20G>A	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2842930	NM_001029896.2(WDR45):c.1012A>G (p.Thr338Ala)	WDR45 (T338A +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2836501	NM_001029896.2(WDR45):c.894G>A (p.Ala298=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2835743	NM_001029896.2(WDR45):c.958_963del (p.Val320_Asn321del)	WDR45	Deletion (inframe_deletion)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2833982	NM_001029896.2(WDR45):c.1063T>G (p.Cys355Gly)	WDR45 (C356G +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2832826	NM_001029896.2(WDR45):c.725+6C>T	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2831669	NM_001029896.2(WDR45):c.673A>T (p.Lys225Ter)	WDR45 (K225* +1 more)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2828811	NM_001029896.2(WDR45):c.703A>G (p.Thr235Ala)	WDR45 (T235A +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GBenign
Select item 2827815	NM_001029896.2(WDR45):c.507G>A (p.Leu169=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2823037	NM_001029896.2(WDR45):c.335A>G (p.His112Arg)	WDR45 (H112R +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2820450	NM_001029896.2(WDR45):c.902C>G (p.Thr301Ser)	WDR45 (T302S +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2820304	NM_001029896.2(WDR45):c.436+20C>T	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2818200	NM_001029896.2(WDR45):c.516+1del	WDR45	Deletion (splice donor variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2816865	NM_001029896.2(WDR45):c.283C>G (p.Leu95Val)	WDR45 (L95V +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GBenign
Select item 2815671	NM_001029896.2(WDR45):c.342-6C>T	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2814101	NM_001029896.2(WDR45):c.1017T>C (p.Pro339=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2812903	NM_001029896.2(WDR45):c.626C>G (p.Ser209Ter)	WDR45 (S209* +1 more)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2811521	NM_001029896.2(WDR45):c.490_493del (p.His164fs)	WDR45 (H164fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2810785	NM_001029896.2(WDR45):c.905_906del (p.Val302fs)	WDR45 (V302fs +1 more)	Microsatellite (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2808892	NM_001029896.2(WDR45):c.598C>T (p.Leu200=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2805747	NM_001029896.2(WDR45):c.974-13C>T	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2805589	NM_001029896.2(WDR45):c.183C>G (p.Asn61Lys)	LOC126863256, WDR45 (N61K)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 2805028	NM_001029896.2(WDR45):c.342-15G>A	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2804672	NM_001029896.2(WDR45):c.708C>G (p.Asp236Glu)	WDR45 (D236E +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2799194	NM_001029896.2(WDR45):c.235+10C>T	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2793232	NM_001029896.2(WDR45):c.153G>A (p.Met51Ile)	LOC126863256, WDR45 (M51I)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2786844	NM_001029896.2(WDR45):c.130+3G>A	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2782246	NM_001029896.2(WDR45):c.517-8T>G	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2766766	NM_001029896.2(WDR45):c.236-12C>G	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2753696	NM_001029896.2(WDR45):c.929G>A (p.Cys310Tyr)	WDR45 (C311Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2751779	NM_001029896.2(WDR45):c.933C>T (p.Ala311=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2743795	NM_001029896.2(WDR45):c.109_110insACCT (p.Leu37fs)	LOC126863256, WDR45 (L37fs)	Insertion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2741945	NM_001029896.2(WDR45):c.836G>T (p.Arg279Leu)	WDR45 (R280L +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2740079	NM_001029896.2(WDR45):c.55+12T>C	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2737506	NM_001029896.2(WDR45):c.131-9C>T	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GBenign
Select item 2737224	NM_001029896.2(WDR45):c.228_229del (p.Glu76fs)	LOC126863256, WDR45 (E76fs)	Microsatellite (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2718578	NM_001029896.2(WDR45):c.726-8T>C	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2713079	NM_001029896.2(WDR45):c.957C>T (p.Asn319=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2709119	NM_001029896.2(WDR45):c.441C>T (p.Leu147=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2705880	NM_001029896.2(WDR45):c.516+17A>T	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2705487	NM_001029896.2(WDR45):c.845A>T (p.Lys282Met)	WDR45 (K282M +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2704412	NM_001029896.2(WDR45):c.200del (p.Gly67fs)	LOC126863256, WDR45 (G67fs)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2704269	NM_001029896.2(WDR45):c.667C>T (p.Gln223Ter)	WDR45 (Q224* +1 more)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2698281	NM_001029896.2(WDR45):c.974-4C>T	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2697117	NM_001029896.2(WDR45):c.90C>T (p.Arg30=)	LOC126863256, WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2690448	NM_001029896.2(WDR45):c.364C>G (p.Arg122Gly)	WDR45 (R122G +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2664290	NM_001029896.2(WDR45):c.672del (p.Lys225fs)	WDR45 (K225fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	Gnot provided
Select item 2626856	NM_001029896.2(WDR45):c.618dup (p.Val207fs)	WDR45 (V207fs +1 more)	Duplication (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2576564	NM_001029896.2(WDR45):c.498_499del (p.Cys166fs)	WDR45 (C166fs +1 more)	Microsatellite (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 2572404	NM_001029896.2(WDR45):c.773_787del (p.Lys258_His262del)	WDR45	Deletion (inframe_deletion)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2570651	NM_001029896.2(WDR45):c.516+5G>A	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 2444398	NM_001029896.2(WDR45):c.892del (p.Ala298fs)	WDR45 (A298fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 2444042	NM_001029896.2(WDR45):c.437-2A>T	WDR45	Single nucleotide variant (splice acceptor variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 2443995	NM_001029896.2(WDR45):c.305_307del (p.Thr102del)	WDR45 (T102del +1 more)	Deletion (inframe_deletion)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 2442363	NM_001029896.2(WDR45):c.641G>A (p.Gly214Asp)	WDR45 (G214D +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 2434636	NM_001029896.2(WDR45):c.130+1G>T	LOC126863256, WDR45	Single nucleotide variant (splice donor variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 2431445	NM_001029896.2(WDR45):c.632C>T (p.Ser211Phe)	WDR45 (S211F +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2425684	NC_000023.10:g.(?_48932462)_(48935755_?)del	WDR45	Deletion	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCDC120, CCDC22 +60 more	Duplication	SLC35A2-congenital disorder of glycosylation +4 more	GUncertain significance
Select item 2202039	NM_001029896.2(WDR45):c.974-14C>G	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GBenign
Select item 2201439	NM_001029896.2(WDR45):c.283C>T (p.Leu95=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2197332	NM_001029896.2(WDR45):c.502A>T (p.Ser168Cys)	WDR45 (S168C +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2183753	NM_001029896.2(WDR45):c.517G>A (p.Asp173Asn)	WDR45 (D173N +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2170846	NM_001029896.2(WDR45):c.974-14C>A	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GBenign
Select item 2169647	NM_001029896.2(WDR45):c.64del (p.Cys22fs)	LOC126863256, WDR45 (C22fs)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2166896	NM_001029896.2(WDR45):c.698G>A (p.Arg233Gln)	WDR45 (R233Q +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2162383	NM_001029896.2(WDR45):c.345C>T (p.Ile115=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GBenign
Select item 2149937	NM_001029896.2(WDR45):c.974-11C>G	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2147643	NM_001029896.2(WDR45):c.437-19C>G	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GBenign
Select item 2138573	NM_001029896.2(WDR45):c.879_880del (p.Gln294fs)	WDR45 (Q294fs +1 more)	Microsatellite (frameshift variant)	Neurodegeneration with brain iron accumulation 5 +1 more	GPathogenic
Select item 2134301	NM_001029896.2(WDR45):c.194TGG[1] (p.Val66del)	LOC126863256, WDR45 (V66del)	Microsatellite (inframe_deletion)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2132683	NM_001029896.2(WDR45):c.827+5G>T	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2130086	NM_001029896.2(WDR45):c.687G>A (p.Val229=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2128402	NM_001029896.2(WDR45):c.341A>T (p.Lys114Met)	WDR45 (K114M +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2125781	NM_001029896.2(WDR45):c.865_874del (p.Gln289fs)	WDR45 (Q289fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2121188	NM_001029896.2(WDR45):c.167T>C (p.Met56Thr)	LOC126863256, WDR45 (M56T)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2120969	NM_001029896.2(WDR45):c.56-8dup	LOC126863256, WDR45	Duplication (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2120504	NM_001029896.2(WDR45):c.928T>C (p.Cys310Arg)	WDR45 (C310R +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 2118566	NM_001029896.2(WDR45):c.1064del (p.Cys355fs)	WDR45 (C355fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance

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