ZNF454[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 152882	GRCh38/hg38 5q35.3(chr5:178923770-178973462)x3	ZFP2, ZNF454 +1 more	Copy number gain	See cases	GUncertain significance
Select item 2489769	NM_001178089.3(ZNF454):c.73C>G (p.Gln25Glu)	ZNF454 (Q25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195899	NM_001178089.3(ZNF454):c.144C>A (p.Ser48Arg)	ZNF454 (S48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397515	NM_001178089.3(ZNF454):c.182A>G (p.Asp61Gly)	ZNF454 (D61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362961	NM_001178089.3(ZNF454):c.204A>T (p.Lys68Asn)	ZNF454 (K68N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195900	NM_001178089.3(ZNF454):c.245G>C (p.Cys82Ser)	ZNF454 (C82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255315	NM_001178089.3(ZNF454):c.301C>T (p.Pro101Ser)	ZNF454 (P101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280030	NM_001178089.3(ZNF454):c.316G>C (p.Asp106His)	ZNF454 (D106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258155	NM_001178089.3(ZNF454):c.328A>G (p.Ile110Val)	ZNF454 (I110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232271	NM_001178089.3(ZNF454):c.403A>T (p.Ile135Phe)	ZNF454 (I135F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258156	NM_001178089.3(ZNF454):c.473C>G (p.Thr158Ser)	ZNF454 (T158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299158	NM_001178089.3(ZNF454):c.782A>G (p.Tyr261Cys)	ZNF454 (Y261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195901	NM_001178089.3(ZNF454):c.806A>G (p.Glu269Gly)	ZNF454 (E269G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258154	NM_001178089.3(ZNF454):c.844A>T (p.Ile282Phe)	ZNF454 (I282F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385068	NM_001178089.3(ZNF454):c.854T>C (p.Ile285Thr)	ZNF454 (I285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253828	NM_001178089.3(ZNF454):c.965A>G (p.His322Arg)	ZNF454 (H322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530051	NM_001178089.3(ZNF454):c.1091C>G (p.Ala364Gly)	ZNF454 (A364G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325942	NM_001178089.3(ZNF454):c.1109C>G (p.Ser370Cys)	ZNF454 (S370C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235955	NM_001178089.3(ZNF454):c.1161T>A (p.Asn387Lys)	ZNF454 (N387K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608461	NM_001178089.3(ZNF454):c.1162G>C (p.Glu388Gln)	ZNF454 (E388Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258157	NM_001178089.3(ZNF454):c.1253A>G (p.Glu418Gly)	ZNF454 (E418G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303889	NM_001178089.3(ZNF454):c.1492T>G (p.Cys498Gly)	ZNF454 (C498G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287218	NM_001178089.3(ZNF454):c.1498A>G (p.Lys500Glu)	ZNF454 (K500E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706654	NM_000843.4(GRM6):c.*171A>G	GRM6, ZNF454 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1707172	NM_000843.4(GRM6):c.*128G>A	GRM6, LOC100130798 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1706847	NM_000843.4(GRM6):c.*114C>G	LOC100130798, GRM6 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1097176	NM_000843.4(GRM6):c.2628C>T (p.His876=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866961	NM_000843.4(GRM6):c.2624C>A (p.Ala875Asp)	GRM6, ZNF454 (A875D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1132008	NM_000843.4(GRM6):c.2616T>C (p.Asp872=)	ZNF454, GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 854338	NM_000843.4(GRM6):c.2611G>A (p.Glu871Lys)	GRM6, ZNF454 (E871K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193608	NM_000843.4(GRM6):c.2610C>T (p.Gly870=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1393868	NM_000843.4(GRM6):c.2609G>A (p.Gly870Asp)	GRM6, ZNF454 (G870D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284878	NM_000843.4(GRM6):c.2607G>A (p.Lys869=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102691	NM_000843.4(GRM6):c.2603C>G (p.Pro868Arg)	GRM6, ZNF454 (P868R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1124388	NM_000843.4(GRM6):c.2601A>G (p.Pro867=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355245	NM_000843.4(GRM6):c.2590G>A (p.Val864Met)	GRM6, ZNF454 (V864M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999194	NM_000843.4(GRM6):c.2589G>A (p.Thr863=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788529	NM_000843.4(GRM6):c.2588C>T (p.Thr863Met)	GRM6, ZNF454 (T863M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1133039	NM_000843.4(GRM6):c.2586C>T (p.Ser862=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370705	NM_000843.4(GRM6):c.2581A>C (p.Thr861Pro)	GRM6, ZNF454 (T861P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905224	NM_000843.4(GRM6):c.2580C>T (p.Ala860=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 849482	NM_000843.4(GRM6):c.2578G>T (p.Ala860Ser)	GRM6, ZNF454 (A860S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988605	NM_000843.4(GRM6):c.2574C>T (p.Leu858=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 968463	NM_000843.4(GRM6):c.2567G>A (p.Arg856Gln)	GRM6, ZNF454 (R856Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966276	NM_000843.4(GRM6):c.2566C>T (p.Arg856Trp)	GRM6, ZNF454 (R856W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1423736	NM_000843.4(GRM6):c.2561G>A (p.Arg854Gln)	GRM6, ZNF454 (R854Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717563	NM_000843.4(GRM6):c.2549A>C (p.Asn850Thr)	GRM6, ZNF454 (N850T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389504	NM_000843.4(GRM6):c.2530C>A (p.Leu844Ile)	GRM6, ZNF454 (L844I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 863565	NM_000843.4(GRM6):c.2530C>G (p.Leu844Val)	GRM6, ZNF454 (L844V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389505	NM_000843.4(GRM6):c.2527A>G (p.Ile843Val)	GRM6, ZNF454 (I843V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1489966	NM_000843.4(GRM6):c.2525T>C (p.Val842Ala)	GRM6, ZNF454 (V842A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 846739	NM_000843.4(GRM6):c.2524G>A (p.Val842Ile)	GRM6, ZNF454 (V842I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1545247	NM_000843.4(GRM6):c.2523C>T (p.Tyr841=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3282898	NM_000843.4(GRM6):c.2513C>T (p.Pro838Leu)	GRM6, ZNF454 (P838L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777400	NM_000843.4(GRM6):c.2509G>A (p.Val837Ile)	GRM6, ZNF454 (V837I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1134633	NM_000843.4(GRM6):c.2508C>T (p.Tyr836=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1375389	NM_000843.4(GRM6):c.2506T>G (p.Tyr836Asp)	GRM6, ZNF454 (Y836D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1524837	NM_000843.4(GRM6):c.2502G>A (p.Met834Ile)	GRM6, ZNF454 (M834I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1510961	NM_000843.4(GRM6):c.2502G>C (p.Met834Ile)	GRM6, ZNF454 (M834I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367174	NM_000843.4(GRM6):c.2497G>T (p.Gly833Cys)	GRM6, ZNF454 (G833C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590958	NM_000843.4(GRM6):c.2496C>T (p.Leu832=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900257	NM_000843.4(GRM6):c.2489T>C (p.Val830Ala)	GRM6, ZNF454 (V830A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1668288	NM_000843.4(GRM6):c.2487G>A (p.Ser829=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 959838	NM_000843.4(GRM6):c.2486C>T (p.Ser829Leu)	GRM6, ZNF454 (S829L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969125	NM_000843.4(GRM6):c.2485T>G (p.Ser829Ala)	GRM6, ZNF454 (S829A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1019701	NM_000843.4(GRM6):c.2464G>A (p.Val822Met)	GRM6, ZNF454 (V822M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917378	NM_000843.4(GRM6):c.2463C>T (p.Thr821=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1079119	NM_000843.4(GRM6):c.2460A>C (p.Leu820=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1166033	NM_000843.4(GRM6):c.2457G>A (p.Thr819=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1036310	NM_000843.4(GRM6):c.2456C>T (p.Thr819Met)	GRM6, ZNF454 (T819M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 967633	NM_000843.4(GRM6):c.2452A>T (p.Thr818Ser)	GRM6, ZNF454 (T818S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665447	NM_000843.4(GRM6):c.2442C>T (p.Tyr814=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1126395	NM_000843.4(GRM6):c.2437-5C>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 99648	NM_000843.4(GRM6):c.2437-6G>A	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1140764	NM_000843.4(GRM6):c.2437-9A>G	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2131833	NM_000843.4(GRM6):c.2437-10C>G	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019857	NM_000843.4(GRM6):c.2437-16C>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669067	NM_000843.4(GRM6):c.2437-18C>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881181	NM_000843.4(GRM6):c.2437-19C>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269495	NM_000843.4(GRM6):c.2436+226C>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293683	NM_000843.4(GRM6):c.2436+206dup	GRM6, ZNF454	Duplication (intron variant)	not provided	GBenign
Select item 1254970	NM_000843.4(GRM6):c.2436+206_2436+207dup	GRM6, ZNF454	Duplication (intron variant)	not provided	GBenign
Select item 1280992	NM_000843.4(GRM6):c.2436+211_2436+217del	GRM6, ZNF454	Deletion (intron variant)	not provided	GBenign
Select item 1252173	NM_000843.4(GRM6):c.2436+217del	GRM6, ZNF454	Deletion (intron variant)	not provided	GBenign
Select item 1707038	NM_000843.4(GRM6):c.2436+186C>T	GRM6, LOC100130798 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232316	NM_000843.4(GRM6):c.2436+84G>A	GRM6, LOC132089230 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 99647	NM_000843.4(GRM6):c.2436+55G>A	LOC132089230, ZNF454 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 99646	NM_000843.4(GRM6):c.2436+46A>C	ZNF454, GRM6 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1633424	NM_000843.4(GRM6):c.2436+17G>C	GRM6, LOC132089230 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1619797	NM_000843.4(GRM6):c.2436+9G>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1382087	NM_000843.4(GRM6):c.2425T>A (p.Ser809Thr)	GRM6, ZNF454 (S809T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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