WDR45[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 384400	NM_001029896.2(WDR45):c.*19T>A	WDR45	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2099376	NM_001029896.2(WDR45):c.1065TGA[3] (p.Asp359del)	WDR45 (D360del +1 more)	Microsatellite (inframe_deletion)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
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
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 2008494	NM_001029896.2(WDR45):c.1062C>A (p.Ile354=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1503754	NM_001029896.2(WDR45):c.1051T>C (p.Tyr351His)	WDR45 (Y351H +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
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 1056082	NM_001029896.2(WDR45):c.1048G>A (p.Val350Met)	WDR45 (V350M +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 1776135	NM_001029896.2(WDR45):c.1045G>A (p.Asp349Asn)	WDR45 (D349N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1635694	NM_001029896.2(WDR45):c.1039G>T (p.Ala347Ser)	WDR45 (A347S +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1386002	NM_001029896.2(WDR45):c.1037_1038del (p.Glu346fs)	WDR45 (E347fs +1 more)	Microsatellite (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 643939	NM_001029896.2(WDR45):c.1036G>T (p.Glu346Ter)	WDR45 (E346* +1 more)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 944567	NM_001029896.2(WDR45):c.1029dup (p.Asn344fs)	WDR45 (N345fs +1 more)	Duplication (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 212591	NM_001029896.2(WDR45):c.1030A>G (p.Asn344Asp)	WDR45 (N345D +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 849996	NM_001029896.2(WDR45):c.1027del (p.Cys343fs)	WDR45 (C343fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 1054825	NM_001029896.2(WDR45):c.1021G>A (p.Gly341Arg)	WDR45 (G341R +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
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 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 2083404	NM_001029896.2(WDR45):c.1010_1011del (p.Phe337fs)	WDR45 (F337fs +1 more)	Deletion (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 935908	NM_001029896.2(WDR45):c.1005T>G (p.Tyr335Ter)	WDR45 (Y336* +1 more)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 663120	NM_001029896.2(WDR45):c.1005T>A (p.Tyr335Ter)	WDR45 (Y335* +1 more)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 41911	NM_001029896.2(WDR45):c.1004_1005del (p.Tyr335fs)	WDR45 (Y335fs +1 more)	Microsatellite (frameshift variant)	Neurodegeneration with brain iron accumulation 5 +2 more	GPathogenic
Select item 2629993	NM_001029896.2(WDR45):c.999C>G (p.His333Gln)	WDR45 (H333Q +1 more)	Single nucleotide variant (missense variant)	WDR45-related disorder	GUncertain significance
Select item 2504617	NM_001029896.2(WDR45):c.988G>A (p.Gly330Arg)	WDR45 (G330R +1 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1	GUncertain significance
Select item 982620	NM_001029896.2(WDR45):c.982_984delinsTTG (p.Val328Leu)	WDR45 (V328L +1 more)	Indel (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2388648	NM_001029896.2(WDR45):c.983T>C (p.Val328Ala)	WDR45 (V328A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1713809	NM_001029896.2(WDR45):c.981C>G (p.Cys327Trp)	WDR45 (C327W +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 1554919	NM_001029896.2(WDR45):c.981C>T (p.Cys327=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GBenign
Select item 1497166	NM_001029896.2(WDR45):c.979T>G (p.Cys327Gly)	WDR45 (C327G +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 1083604	NM_001029896.2(WDR45):c.978C>T (p.Ile326=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 523624	NM_001029896.2(WDR45):c.974-1G>A	WDR45	Single nucleotide variant (splice acceptor variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 1023123	NM_001029896.2(WDR45):c.974-2A>G	WDR45	Single nucleotide variant (splice acceptor variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
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 681523	NM_001029896.2(WDR45):c.974-4C>A	WDR45	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1657975	NM_001029896.2(WDR45):c.974-5C>T	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1097091	NM_001029896.2(WDR45):c.974-7C>T	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1164260	NM_001029896.2(WDR45):c.974-15dup	WDR45	Duplication (intron variant)	Neurodegeneration with brain iron accumulation 5	GBenign
Select item 473123	NM_001029896.2(WDR45):c.974-9del	WDR45	Deletion (intron variant)	Neurodegeneration with brain iron accumulation 5	GBenign
Select item 1081327	NM_001029896.2(WDR45):c.974-10C>G	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 764315	NM_001029896.2(WDR45):c.974-10C>A	WDR45	Single nucleotide variant (intron 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 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 2202039	NM_001029896.2(WDR45):c.974-14C>G	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GBenign
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 1596254	NM_001029896.2(WDR45):c.974-14C>T	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1638810	NM_001029896.2(WDR45):c.974-15C>T	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 589376	NM_001029896.2(WDR45):c.973+5_973+10del	WDR45	Deletion (intron variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1443925	NM_001029896.2(WDR45):c.973+6T>C	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 3346574	NM_001029896.2(WDR45):c.973+5G>C	WDR45	Single nucleotide variant (intron variant)	WDR45-related disorder	GUncertain significance
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 224075	NM_001029896.2(WDR45):c.973+1G>A	WDR45	Single nucleotide variant (splice donor variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic/Likely pathogenic
Select item 3369180	NM_001029896.2(WDR45):c.969_971del (p.Ile324del)	WDR45 (I324del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1722034	NM_001029896.2(WDR45):c.968T>A (p.Val323Asp)	WDR45 (V323D +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 212596	NM_001029896.2(WDR45):c.966dup (p.Val323fs)	WDR45 (V324fs +1 more)	Duplication (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic/Likely pathogenic
Select item 754855	NM_001029896.2(WDR45):c.966T>A (p.Ser322=)	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 1578177	NM_001029896.2(WDR45):c.962A>G (p.Asn321Ser)	WDR45 (N321S +1 more)	Single nucleotide variant (missense 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 1693013	NM_001029896.2(WDR45):c.956A>T (p.Asn319Ile)	WDR45 (N319I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1155790	NM_001029896.2(WDR45):c.954G>A (p.Lys318=)	WDR45	Single nucleotide variant (synonymous 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 488639	NM_001029896.2(WDR45):c.950_951dup (p.Lys318fs)	WDR45 (K318fs +1 more)	Duplication (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 2630550	NM_001029896.2(WDR45):c.951del (p.Lys318fs)	WDR45 (K318fs +1 more)	Deletion (frameshift variant)	WDR45-related disorder	GPathogenic
Select item 650802	NM_001029896.2(WDR45):c.950C>T (p.Ser317Phe)	WDR45 (S317F +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1520401	NM_001029896.2(WDR45):c.947C>G (p.Thr316Ser)	WDR45 (T317S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 379252	NM_001029896.2(WDR45):c.944A>C (p.Asn315Thr)	WDR45 (N316T +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5 +3 more	GBenign/Likely benign
Select item 1159438	NM_001029896.2(WDR45):c.941G>A (p.Arg314His)	WDR45 (R314H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1312478	NM_001029896.2(WDR45):c.940C>T (p.Arg314Cys)	WDR45 (R314C +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5 +1 more	GUncertain significance
Select item 1076011	NM_001029896.2(WDR45):c.938del (p.Gly313fs)	WDR45 (G313fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 1357712	NM_001029896.2(WDR45):c.937G>A (p.Gly313Ser)	WDR45 (G313S +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 290888	NM_001029896.2(WDR45):c.936C>T (p.Phe312=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5 +2 more	GLikely benign
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 389772	NM_001029896.2(WDR45):c.930C>T (p.Cys310=)	WDR45	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 2044157	NM_001029896.2(WDR45):c.922_928del (p.Cys308fs)	WDR45 (C309fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 945016	NM_001029896.2(WDR45):c.911C>T (p.Ala304Val)	WDR45 (A304V +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 1184945	NM_001029896.2(WDR45):c.908del (p.Pro303fs)	WDR45 (P303fs +1 more)	Deletion (frameshift variant)	not provided	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 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 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 1721041	NM_001029896.2(WDR45):c.893C>T (p.Ala298Val)	WDR45 (A298V +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
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 1329495	NM_001029896.2(WDR45):c.891_892insT (p.Ala298fs)	WDR45 (A298fs +1 more)	Insertion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 429970	NM_001029896.2(WDR45):c.884G>A (p.Trp295Ter)	WDR45 (W296* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 574294	NM_001029896.2(WDR45):c.881A>G (p.Gln294Arg)	WDR45 (Q295R +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
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 1392173	NM_001029896.2(WDR45):c.880del (p.Gln294fs)	WDR45 (Q295fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
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 987166	NM_001029896.2(WDR45):c.872_873insCCGT (p.Asp292fs)	WDR45 (D292fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 373712	NM_001029896.2(WDR45):c.871G>A (p.Val291Met)	WDR45 (V292M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 626051	NM_001029896.2(WDR45):c.870C>T (p.Tyr290=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5 +1 more	GConflicting classifications of pathogenicity
Select item 545700	NM_001029896.2(WDR45):c.870C>G (p.Tyr290Ter)	WDR45 (Y291* +1 more)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation 5 +1 more	GPathogenic
Select item 976312	NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter)	WDR45 (Q289* +1 more)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 212595	NM_001029896.2(WDR45):c.863G>T (p.Gly288Val)	WDR45 (G289V +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5 +1 more	GUncertain significance
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 282969	NM_001029896.2(WDR45):c.838G>A (p.Val280Met)	WDR45 (V281M +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1645087	NM_001029896.2(WDR45):c.837C>T (p.Arg279=)	WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
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

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