WDR90[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 150513	GRCh38/hg38 16p13.3(chr16:412341-925326)x3	ANTKMT, CAPN15 +76 more	Copy number gain	See cases	GUncertain significance
Select item 151645	GRCh38/hg38 16p13.3(chr16:534395-722554)x3	ANTKMT, CAPN15 +47 more	Copy number gain	See cases	GBenign
Select item 145938	GRCh38/hg38 16p13.3(chr16:551385-722554)x3	ANTKMT, CAPN15 +45 more	Copy number gain	See cases	GLikely benign
Select item 151633	GRCh38/hg38 16p13.3(chr16:636673-786508)x3	ANTKMT, CCDC78 +40 more	Copy number gain	See cases	GBenign
Select item 145245	GRCh38/hg38 16p13.3(chr16:636673-722554)x1	ANTKMT, FBXL16 +26 more	Copy number loss	See cases	GBenign
Select item 145243	GRCh38/hg38 16p13.3(chr16:636673-722554)x3	LOC130058119, LOC130058120 +26 more	Copy number gain	See cases	GBenign
Select item 2337930	NM_145294.5(WDR90):c.4G>C (p.Ala2Pro)	WDR90 (A2P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598256	NM_145294.5(WDR90):c.22C>T (p.Pro8Ser)	WDR90 (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299657	NM_145294.5(WDR90):c.158A>G (p.Asn53Ser)	WDR90 (N53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190374	NM_145294.5(WDR90):c.172C>T (p.Pro58Ser)	WDR90 (P58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615216	NM_145294.5(WDR90):c.185C>T (p.Thr62Ile)	WDR90 (T62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190379	NM_145294.5(WDR90):c.202A>G (p.Thr68Ala)	WDR90 (T68A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372594	NM_145294.5(WDR90):c.206G>A (p.Gly69Glu)	WDR90 (G69E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540769	NM_145294.5(WDR90):c.233C>T (p.Pro78Leu)	WDR90 (P78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529107	NM_145294.5(WDR90):c.272C>T (p.Ser91Phe)	WDR90 (S91F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190385	NM_145294.5(WDR90):c.278A>G (p.Lys93Arg)	WDR90 (K93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152593	GRCh38/hg38 16p13.3(chr16:650260-722554)x1	ANTKMT, FBXL16 +18 more	Copy number loss	See cases	GBenign
Select item 2271233	NM_145294.5(WDR90):c.313C>T (p.Leu105Phe)	WDR90 (L105F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241957	NM_145294.5(WDR90):c.313C>G (p.Leu105Val)	WDR90 (L105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266513	NM_145294.5(WDR90):c.370G>A (p.Ala124Thr)	WDR90 (A124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537947	NM_145294.5(WDR90):c.415G>T (p.Ala139Ser)	WDR90 (A139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190403	NM_145294.5(WDR90):c.481G>A (p.Gly161Ser)	WDR90 (G161S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2645835	NM_145294.5(WDR90):c.560-7C>T	WDR90	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2285354	NM_145294.5(WDR90):c.653G>A (p.Arg218His)	WDR90 (R218H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265759	NM_145294.5(WDR90):c.667C>T (p.Arg223Trp)	WDR90 (R223W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2645836	NM_145294.5(WDR90):c.687G>T (p.Leu229Phe)	WDR90 (L229F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2358093	NM_145294.5(WDR90):c.707T>C (p.Ile236Thr)	WDR90 (I236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378038	NM_145294.5(WDR90):c.773C>T (p.Pro258Leu)	WDR90 (P258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267461	NM_145294.5(WDR90):c.818T>C (p.Val273Ala)	WDR90 (V273A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290507	NM_145294.5(WDR90):c.830G>A (p.Ser277Asn)	WDR90 (S277N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228070	NM_145294.5(WDR90):c.844G>A (p.Gly282Ser)	WDR90 (G282S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2395479	NM_145294.5(WDR90):c.848G>A (p.Arg283Gln)	WDR90 (R283Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361147	NM_145294.5(WDR90):c.853G>A (p.Ala285Thr)	WDR90 (A285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259780	NM_145294.5(WDR90):c.899G>A (p.Arg300His)	WDR90 (R300H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459203	NM_145294.5(WDR90):c.928G>A (p.Gly310Ser)	WDR90 (G310S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334911	NM_145294.5(WDR90):c.958C>G (p.Leu320Val)	WDR90 (L320V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3333016	NM_145294.5(WDR90):c.967T>C (p.Ser323Pro)	WDR90 (S323P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645837	NM_145294.5(WDR90):c.1089C>T (p.Gly363=)	WDR90	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768734	NM_145294.5(WDR90):c.1111G>A (p.Gly371Ser)	WDR90 (G371S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2484984	NM_145294.5(WDR90):c.1136C>T (p.Pro379Leu)	WDR90 (P379L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333015	NM_145294.5(WDR90):c.1309C>T (p.Leu437Phe)	WDR90 (L437F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360557	NM_145294.5(WDR90):c.1327G>A (p.Gly443Arg)	WDR90 (G443R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554367	NM_145294.5(WDR90):c.1363G>T (p.Val455Phe)	WDR90 (V455F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190371	NM_145294.5(WDR90):c.1393G>A (p.Gly465Arg)	WDR90 (G465R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511391	NM_145294.5(WDR90):c.1436C>T (p.Thr479Met)	WDR90 (T479M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554125	NM_145294.5(WDR90):c.1489G>A (p.Val497Ile)	WDR90 (V497I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190372	NM_145294.5(WDR90):c.1502C>T (p.Ala501Val)	WDR90 (A501V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469840	NM_145294.5(WDR90):c.1531C>T (p.Arg511Trp)	WDR90 (R511W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333010	NM_145294.5(WDR90):c.1546G>A (p.Asp516Asn)	WDR90 (D516N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361691	NM_145294.5(WDR90):c.1549G>A (p.Glu517Lys)	WDR90 (E517K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347224	NM_145294.5(WDR90):c.1565C>T (p.Ser522Leu)	WDR90 (S522L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190373	NM_145294.5(WDR90):c.1580G>C (p.Ser527Thr)	WDR90 (S527T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645838	NM_145294.5(WDR90):c.1594C>A (p.Arg532=)	WDR90	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2321049	NM_145294.5(WDR90):c.1606G>T (p.Gly536Trp)	WDR90 (G536W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397163	NM_145294.5(WDR90):c.1627G>A (p.Val543Met)	WDR90 (V543M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270723	NM_145294.5(WDR90):c.1648G>A (p.Ala550Thr)	WDR90 (A550T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219940	NM_145294.5(WDR90):c.1684C>T (p.Arg562Trp)	WDR90 (R562W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333014	NM_145294.5(WDR90):c.1720T>A (p.Phe574Ile)	WDR90 (F574I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190375	NM_145294.5(WDR90):c.1754T>C (p.Ile585Thr)	WDR90 (I585T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333011	NM_145294.5(WDR90):c.1766G>A (p.Arg589His)	WDR90 (R589H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190376	NM_145294.5(WDR90):c.1768A>G (p.Met590Val)	WDR90 (M590V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323215	NM_145294.5(WDR90):c.1770G>A (p.Met590Ile)	WDR90 (M590I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333006	NM_145294.5(WDR90):c.1777C>T (p.Arg593Trp)	WDR90 (R593W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553515	NM_145294.5(WDR90):c.1777C>G (p.Arg593Gly)	WDR90 (R593G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190377	NM_145294.5(WDR90):c.1789C>T (p.Arg597Cys)	WDR90 (R597C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399518	NM_145294.5(WDR90):c.1789C>G (p.Arg597Gly)	WDR90 (R597G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598244	NM_145294.5(WDR90):c.1805G>A (p.Arg602Gln)	WDR90 (R602Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355345	NM_145294.5(WDR90):c.1822C>A (p.His608Asn)	WDR90 (H608N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223467	NM_145294.5(WDR90):c.1825C>A (p.Pro609Thr)	WDR90 (P609T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600812	NM_145294.5(WDR90):c.1951G>A (p.Val651Met)	WDR90 (V651M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333005	NM_145294.5(WDR90):c.1981G>A (p.Val661Ile)	WDR90 (V661I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190378	NM_145294.5(WDR90):c.2014C>T (p.Arg672Cys)	WDR90 (R672C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213616	NM_145294.5(WDR90):c.2036C>T (p.Ser679Leu)	WDR90 (S679L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190380	NM_145294.5(WDR90):c.2068C>T (p.Arg690Trp)	WDR90 (R690W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367969	NM_145294.5(WDR90):c.2072T>G (p.Val691Gly)	WDR90 (V691G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362400	NM_145294.5(WDR90):c.2089C>T (p.Arg697Cys)	WDR90 (R697C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250122	NM_145294.5(WDR90):c.2122A>G (p.Met708Val)	WDR90 (M708V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210339	NM_145294.5(WDR90):c.2164C>T (p.Arg722Cys)	WDR90 (R722C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549107	NM_145294.5(WDR90):c.2165G>A (p.Arg722His)	WDR90 (R722H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2249368	NM_145294.5(WDR90):c.2173C>T (p.Arg725Cys)	WDR90 (R725C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213537	NM_145294.5(WDR90):c.2195T>C (p.Leu732Pro)	WDR90 (L732P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470754	NM_145294.5(WDR90):c.2230G>A (p.Ala744Thr)	WDR90 (A744T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306311	NM_145294.5(WDR90):c.2234C>G (p.Pro745Arg)	WDR90 (P745R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190381	NM_145294.5(WDR90):c.2239G>A (p.Ala747Thr)	WDR90 (A747T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2480690	NM_145294.5(WDR90):c.2240C>G (p.Ala747Gly)	WDR90 (A747G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291146	NM_145294.5(WDR90):c.2255C>T (p.Pro752Leu)	WDR90 (P752L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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