Related gene-specific medical variations for Gene (Select 11152) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382662	NM_001029896.2(WDR45):c.967_968del (p.Val323fs)	WDR45 (V323fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 3382602	NM_001029896.2(WDR45):c.862G>C (p.Gly288Arg)	WDR45 (G288R +1 more)	Single nucleotide variant (missense 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 3359729	NM_001029896.2(WDR45):c.987_989dup (p.Gly330_Thr331insGly)	WDR45	Duplication (inframe_insertion)	not provided	GUncertain significance
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 3256844	NM_001029896.2(WDR45):c.131-40G>A	LOC126863256, WDR45	Single nucleotide variant (intron variant)	not specified	GBenign
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 3034347	NM_001029896.2(WDR45):c.235+5G>C	LOC126863256, WDR45	Single nucleotide variant (intron variant)	WDR45-related disorder	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 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 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 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 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 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 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 2704412	NM_001029896.2(WDR45):c.200del (p.Gly67fs)	LOC126863256, WDR45 (G67fs)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
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 2579518	NM_001029896.2(WDR45):c.3G>T (p.Met1Ile)	LOC126863256, WDR45 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
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 2429914	NM_001029896.2(WDR45):c.235G>T (p.Val79Leu)	LOC126863256, WDR45 (A79S +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GPathogenic
Select item 2376480	NM_001029896.2(WDR45):c.168_176dup (p.Arg59_Ser60insLeuHisArg)	LOC126863256, WDR45	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 2317569	NM_001029896.2(WDR45):c.176G>A (p.Arg59His)	LOC126863256, WDR45 (R59H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229242	NM_001029896.2(WDR45):c.14del (p.Pro5fs)	LOC126863256, WDR45 (P5fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
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 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 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 2098623	NM_001029896.2(WDR45):c.14C>T (p.Pro5Leu)	LOC126863256, WDR45 (P5L)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2064832	NM_001029896.2(WDR45):c.130+20G>A	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2063567	NM_001029896.2(WDR45):c.131-17C>A	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2052617	NM_001029896.2(WDR45):c.131-20A>G	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 2014088	NM_001029896.2(WDR45):c.156C>T (p.Gly52=)	LOC126863256, WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1970290	NM_001029896.2(WDR45):c.235+13A>G	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1736349	NM_001029896.2(WDR45):c.115G>A (p.Glu39Lys)	LOC126863256, WDR45 (E39K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704205	NM_001029896.2(WDR45):c.107C>A (p.Pro36His)	LOC126863256, WDR45 (P36H)	Single nucleotide variant (missense variant)	Optic atrophy 2	GLikely pathogenic
Select item 1704204	NM_001029896.2(WDR45):c.236-1G>T	WDR45 (V80L)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 2	GLikely pathogenic
Select item 1702827	NM_001029896.2(WDR45):c.29C>T (p.Thr10Ile)	LOC126863256, WDR45 (T10I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698942	NM_001029896.2(WDR45):c.2T>C (p.Met1Thr)	LOC126863256, WDR45 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1686305	NM_001029896.2(WDR45):c.78_79del (p.Glu26fs)	LOC126863256, WDR45 (E26fs)	Microsatellite (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 1686304	NM_001029896.2(WDR45):c.130+1G>C	LOC126863256, WDR45	Single nucleotide variant (splice donor variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 1650312	NM_001029896.2(WDR45):c.232T>G (p.Ser78Ala)	LOC126863256, WDR45 (S78A)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1574956	NM_001029896.2(WDR45):c.53A>G (p.Gln18Arg)	LOC126863256, WDR45 (Q18R)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1538320	NM_001029896.2(WDR45):c.5C>T (p.Thr2Ile)	LOC126863256, WDR45 (T2I)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GConflicting classifications of pathogenicity
Select item 1500389	NM_001029896.2(WDR45):c.235+19C>G	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1479692	NM_001029896.2(WDR45):c.215C>T (p.Pro72Leu)	LOC126863256, WDR45 (P72L)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 1470615	NM_001029896.2(WDR45):c.130+2T>C	LOC126863256, WDR45	Single nucleotide variant (splice donor variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 1446397	NM_001029896.2(WDR45):c.206G>C (p.Gly69Ala)	LOC126863256, WDR45 (G69A)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 1437643	NM_001029896.2(WDR45):c.194T>C (p.Leu65Ser)	LOC126863256, WDR45 (L65S)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5 +1 more	GUncertain significance
Select item 1386871	NM_001029896.2(WDR45):c.130+5G>A	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 1346224	NM_001029896.2(WDR45):c.151A>G (p.Met51Val)	LOC126863256, WDR45 (M51V)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 1335768	NM_001029896.2(WDR45):c.227del (p.Glu76fs)	LOC126863256, WDR45 (E76fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1326470	NM_001029896.2(WDR45):c.235+364C>T	LOC126863256, WDR45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1325358	NM_001029896.2(WDR45):c.828-2A>C	WDR45	Single nucleotide variant (splice acceptor variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 1319813	NM_001029896.2(WDR45):c.38G>T (p.Arg13Leu)	LOC126863256, WDR45 (R13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314431	NM_001029896.2(WDR45):c.208A>G (p.Ser70Gly)	LOC126863256, WDR45 (S70G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298388	NM_001029896.2(WDR45):c.826G>C (p.Ala276Pro)	WDR45 (A276P +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 1267984	NM_001029896.2(WDR45):c.-17-46G>A	LOC126863256, WDR45	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241654	NM_001029896.2(WDR45):c.131-40=	LOC126863256, WDR45	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233719	NM_001029896.2(WDR45):c.130+43G>A	LOC126863256, WDR45	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184945	NM_001029896.2(WDR45):c.908del (p.Pro303fs)	WDR45 (P303fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1176933	NM_001029896.2(WDR45):c.130+1del	LOC126863256, WDR45	Deletion (splice donor variant)	not provided	GPathogenic
Select item 1170598	NM_001029896.2(WDR45):c.100G>A (p.Val34Met)	LOC126863256, WDR45 (V34M)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5 +1 more	GBenign/Likely benign
Select item 1169123	NM_001029896.2(WDR45):c.131-8C>A	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GBenign
Select item 1157967	NM_001029896.2(WDR45):c.37C>T (p.Arg13Cys)	LOC126863256, WDR45 (R13C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1154604	NM_001029896.2(WDR45):c.34C>T (p.Leu12=)	LOC126863256, WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1152849	NM_001029896.2(WDR45):c.99C>T (p.Asn33=)	LOC126863256, WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5 +1 more	GLikely benign
Select item 1131574	NM_001029896.2(WDR45):c.192C>T (p.Ala64=)	LOC126863256, WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1108427	NM_001029896.2(WDR45):c.231C>T (p.Ile77=)	LOC126863256, WDR45	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1104645	NM_001029896.2(WDR45):c.130+8G>T	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1093294	NM_001029896.2(WDR45):c.22G>A (p.Gly8Arg)	LOC126863256, WDR45 (G8R)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1085289	NM_001029896.2(WDR45):c.155G>C (p.Gly52Ala)	LOC126863256, WDR45 (G52A)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
Select item 1075892	NM_001029896.2(WDR45):c.209del (p.Ser70fs)	LOC126863256, WDR45 (S70fs)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 1073994	NM_001029896.2(WDR45):c.226G>T (p.Glu76Ter)	LOC126863256, WDR45 (E76*)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 1064356	NM_001029896.2(WDR45):c.89G>A (p.Arg30His)	LOC126863256, WDR45 (R30H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1041372	NM_001029896.2(WDR45):c.70G>A (p.Ala24Thr)	LOC126863256, WDR45 (A24T)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 1030190	NM_001029896.2(WDR45):c.235+5G>A	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GConflicting classifications of pathogenicity
Select item 1026966	NM_001029896.2(WDR45):c.88C>T (p.Arg30Cys)	LOC126863256, WDR45 (R30C)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 987166	NM_001029896.2(WDR45):c.872_873insCCGT (p.Asp292fs)	WDR45 (D292fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 986842	NM_001029896.2(WDR45):c.798_817del (p.Lys267fs)	WDR45 (K267fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 985356	NM_001029896.2(WDR45):c.235+2T>C	LOC126863256, WDR45	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 985199	NM_001029896.2(WDR45):c.139dup (p.Gln47fs)	LOC126863256, WDR45 (Q47fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 985039	NM_001029896.2(WDR45):c.180del (p.Asn61fs)	LOC126863256, WDR45 (N61fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 984996	NM_001029896.2(WDR45):c.139C>T (p.Gln47Ter)	LOC126863256, WDR45 (Q47*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 981409	NM_001029896.2(WDR45):c.1A>G (p.Met1Val)	LOC126863256, WDR45 (M1V)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration with brain iron accumulation 5 +2 more	GConflicting classifications of pathogenicity
Select item 977628	NM_001029896.2(WDR45):c.81_82del (p.Gly28fs)	LOC126863256, WDR45 (G28fs)	Deletion (frameshift variant)	Global developmental delay	GPathogenic
Select item 975779	NM_001029896.2(WDR45):c.510dup (p.Leu171fs)	WDR45 (L171fs +1 more)	Duplication (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 947175	NM_001029896.2(WDR45):c.10C>T (p.Gln4Ter)	LOC126863256, WDR45 (Q4*)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 935230	NM_001029896.2(WDR45):c.184C>G (p.Leu62Val)	LOC126863256, WDR45 (L62V)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 932493	NM_001029896.2(WDR45):c.38G>A (p.Arg13His)	LOC126863256, WDR45 (R13H)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5 +1 more	GBenign/Likely benign
Select item 931294	NM_001029896.2(WDR45):c.598_599del (p.Leu200fs)	WDR45 (L201fs +1 more)	Microsatellite (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 871503	NM_001029896.2(WDR45):c.235+1G>A	LOC126863256, WDR45	Single nucleotide variant (splice donor variant)	Neurodegeneration with brain iron accumulation 5 +1 more	GPathogenic
Select item 857295	NM_001029896.2(WDR45):c.226_230del (p.Glu76fs)	LOC126863256, WDR45 (E76fs)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 848898	NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys)	LOC126863256, WDR45 (N61K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 840306	NM_001029896.2(WDR45):c.200G>A (p.Gly67Asp)	LOC126863256, WDR45 (G67D)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic

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