ZNF451[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 144369	GRCh38/hg38 6p12.1-11.2(chr6:56312924-57306212)x1	BAG2, BEND6 +28 more	Copy number loss	See cases	GUncertain significance
Select item 146506	GRCh38/hg38 6p12.1-11.2(chr6:56639682-57432788)x3	BAG2, BEND6 +27 more	Copy number gain	See cases	GUncertain significance
Select item 545338	NC_000006.12:g.(?_57046622)_(57092420_?)del	KIAA1586, ZNF451	Deletion	Schizophrenia	GLikely pathogenic
Select item 2622094	NM_001031623.3(ZNF451):c.16T>C (p.Ser6Pro)	ZNF451 (S6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258150	NM_001031623.3(ZNF451):c.190A>C (p.Asn64His)	ZNF451, ZNF451-AS1 (N64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195891	NM_001031623.3(ZNF451):c.211A>G (p.Ile71Val)	ZNF451, ZNF451-AS1 (I71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258151	NM_001031623.3(ZNF451):c.485C>T (p.Thr162Met)	ZNF451, ZNF451-AS1 (T162M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335973	NM_001031623.3(ZNF451):c.634T>G (p.Phe212Val)	ZNF451, ZNF451-AS1 (F212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557708	NM_001031623.3(ZNF451):c.646G>A (p.Val216Ile)	ZNF451, ZNF451-AS1 (V216I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370919	NM_001031623.3(ZNF451):c.673C>A (p.Gln225Lys)	ZNF451, ZNF451-AS1 (Q225K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483363	NM_001031623.3(ZNF451):c.707C>T (p.Ala236Val)	ZNF451, ZNF451-AS1 (A236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195896	NM_001031623.3(ZNF451):c.776T>G (p.Phe259Cys)	ZNF451, ZNF451-AS1 (F259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195898	NM_001031623.3(ZNF451):c.880A>G (p.Ile294Val)	ZNF451, ZNF451-AS1 (I294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276017	NM_001031623.3(ZNF451):c.916T>A (p.Ser306Thr)	ZNF451, ZNF451-AS1 (S306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276408	NM_001031623.3(ZNF451):c.956C>G (p.Ala319Gly)	ZNF451, ZNF451-AS1 (A319G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216144	NM_001031623.3(ZNF451):c.974G>A (p.Arg325His)	ZNF451, ZNF451-AS1 (R325H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195887	NM_001031623.3(ZNF451):c.1084G>A (p.Gly362Ser)	ZNF451, ZNF451-AS1 (G362S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195888	NM_001031623.3(ZNF451):c.1202A>G (p.Tyr401Cys)	ZNF451, ZNF451-AS1 (Y401C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305242	NM_001031623.3(ZNF451):c.1231C>A (p.Pro411Thr)	ZNF451, ZNF451-AS1 (P411T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482323	NM_001031623.3(ZNF451):c.1360A>G (p.Lys454Glu)	ZNF451, ZNF451-AS1 (K454E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195889	NM_001031623.3(ZNF451):c.1515G>T (p.Lys505Asn)	ZNF451, ZNF451-AS1 (K505N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558246	NM_001031623.3(ZNF451):c.1517T>C (p.Val506Ala)	ZNF451, ZNF451-AS1 (V506A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334912	NM_001031623.3(ZNF451):c.1561C>A (p.His521Asn)	ZNF451, ZNF451-AS1 (H521N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223634	NM_001031623.3(ZNF451):c.1600C>T (p.Arg534Trp)	ZNF451, ZNF451-AS1 (R534W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275342	NM_001031623.3(ZNF451):c.1688T>A (p.Met563Lys)	ZNF451, ZNF451-AS1 (M563K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258153	NM_001031623.3(ZNF451):c.1693G>A (p.Glu565Lys)	ZNF451, ZNF451-AS1 (E565K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345193	NM_001031623.3(ZNF451):c.1730C>T (p.Thr577Ile)	ZNF451, ZNF451-AS1 (T577I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252747	NM_001031623.3(ZNF451):c.1902T>A (p.His634Gln)	ZNF451, ZNF451-AS1 (H634Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315644	NM_001031623.3(ZNF451):c.1934T>G (p.Phe645Cys)	ZNF451, ZNF451-AS1 (F645C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326485	NM_001031623.3(ZNF451):c.1943T>C (p.Ile648Thr)	ZNF451, ZNF451-AS1 (I648T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528209	NM_001031623.3(ZNF451):c.1982A>G (p.Asn661Ser)	ZNF451, ZNF451-AS1 (N661S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656682	NM_001031623.3(ZNF451):c.2103T>G (p.Thr701=)	ZNF451, ZNF451-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3258149	NM_001031623.3(ZNF451):c.2153A>G (p.Asn718Ser)	ZNF451, ZNF451-AS1 (N718S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357281	NM_001031623.3(ZNF451):c.2174G>T (p.Arg725Leu)	ZNF451, ZNF451-AS1 (R725L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195892	NM_001031623.3(ZNF451):c.2182T>C (p.Tyr728His)	ZNF451, ZNF451-AS1 (Y728H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392677	NM_001031623.3(ZNF451):c.2189G>A (p.Cys730Tyr)	ZNF451, ZNF451-AS1 (C730Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195893	NM_001031623.3(ZNF451):c.2288A>G (p.Gln763Arg)	ZNF451, ZNF451-AS1 (Q763R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520809	NM_001031623.3(ZNF451):c.2290A>T (p.Asn764Tyr)	ZNF451, ZNF451-AS1 (N764Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545953	NM_001031623.3(ZNF451):c.2429G>C (p.Arg810Thr)	ZNF451, ZNF451-AS1 (R810T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195894	NM_001031623.3(ZNF451):c.2438G>C (p.Cys813Ser)	ZNF451, ZNF451-AS1 (C813S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282654	NM_001031623.3(ZNF451):c.2680G>C (p.Asp894His)	ZNF451, ZNF451-AS1 (D894H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258152	NM_001031623.3(ZNF451):c.2828T>G (p.Leu943Arg)	ZNF451, ZNF451-AS1 (L943R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345535	NM_001031623.3(ZNF451):c.2836C>T (p.Arg946Cys)	ZNF451, ZNF451-AS1 (R946C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495532	NM_001031623.3(ZNF451):c.2897A>G (p.Asp966Gly)	ZNF451, ZNF451-AS1 (D966G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621916	NM_001031623.3(ZNF451):c.2998A>G (p.Ile1000Val)	ZNF451, ZNF451-AS1 (I1000V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195895	NM_001031623.3(ZNF451):c.3028A>T (p.Met1010Leu)	ZNF451, ZNF451-AS1 (M1010L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330108	NM_001031623.3(ZNF451):c.3085G>A (p.Asp1029Asn)	ZNF451, ZNF451-AS1 (D981N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279734	NM_001031623.3(ZNF451):c.3164G>A (p.Arg1055Lys)	ZNF451, ZNF451-AS1 (R1055K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555387	NM_001031623.3(ZNF451):c.3166A>G (p.Arg1056Gly)	ZNF451, ZNF451-AS1 (R1056G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551903	NM_001031623.3(ZNF451):c.3170G>A (p.Ser1057Asn)	ZNF451, ZNF451-AS1 (S1009N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062901	GRCh37/hg19 6p11.2(chr6:57012713-57283544)x1	BAG2, RAB23 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527243	GRCh37/hg19 6p12.1-11.2(chr6:56993776-57052516)	BAG2, ZNF451	Copy number loss	not specified	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 59