ZBED6[gene] - ClinVar

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2479143	NM_001395895.1(ZBED6):c.97A>G (p.Ile33Val)	ZC3H11A, ZBED6 (I33V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472831	NM_001395895.1(ZBED6):c.101A>T (p.Asn34Ile)	ZBED6, ZC3H11A (N34I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546805	NM_001395895.1(ZBED6):c.199G>A (p.Gly67Ser)	ZBED6, ZC3H11A (G67S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518511	NM_001395895.1(ZBED6):c.224G>A (p.Arg75His)	ZBED6, ZC3H11A (R75H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476860	NM_001395895.1(ZBED6):c.281C>T (p.Pro94Leu)	ZBED6, ZC3H11A (P94L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234638	NM_001395895.1(ZBED6):c.476G>A (p.Ser159Asn)	ZC3H11A, ZBED6 (S159N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468705	NM_001395895.1(ZBED6):c.635A>T (p.Asn212Ile)	ZBED6, ZC3H11A (N212I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278226	NM_001395895.1(ZBED6):c.715G>A (p.Ala239Thr)	ZC3H11A, ZBED6 (A239T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359883	NM_001395895.1(ZBED6):c.724G>C (p.Ala242Pro)	ZBED6, ZC3H11A (A242P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356037	NM_001395895.1(ZBED6):c.725C>T (p.Ala242Val)	ZBED6, ZC3H11A (A242V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558109	NM_001395895.1(ZBED6):c.770C>T (p.Ala257Val)	ZBED6, ZC3H11A (A257V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366594	NM_001395895.1(ZBED6):c.997G>C (p.Asp333His)	ZBED6, ZC3H11A (D333H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554127	NM_001395895.1(ZBED6):c.1018A>C (p.Ser340Arg)	ZBED6, ZC3H11A (S340R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376481	NM_001395895.1(ZBED6):c.1024C>T (p.Leu342Phe)	ZBED6, ZC3H11A (L342F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220331	NM_001395895.1(ZBED6):c.1057A>C (p.Thr353Pro)	ZBED6, ZC3H11A (T353P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237534	NM_001395895.1(ZBED6):c.1085A>T (p.Asp362Val)	ZBED6, ZC3H11A (D362V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343515	NM_001395895.1(ZBED6):c.1153G>A (p.Val385Ile)	ZC3H11A, ZBED6 (V385I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243188	NM_001395895.1(ZBED6):c.1175T>C (p.Met392Thr)	ZBED6, ZC3H11A (M392T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334047	NM_001395895.1(ZBED6):c.1183C>G (p.Gln395Glu)	ZBED6, ZC3H11A (Q395E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496396	NM_001395895.1(ZBED6):c.1270C>T (p.Pro424Ser)	ZBED6, ZC3H11A (P424S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481638	NM_001395895.1(ZBED6):c.1286C>T (p.Ser429Leu)	ZBED6, ZC3H11A (S429L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289105	NM_001395895.1(ZBED6):c.1372C>T (p.Pro458Ser)	ZC3H11A, ZBED6 (P458S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313144	NM_001395895.1(ZBED6):c.1421A>G (p.Asn474Ser)	ZC3H11A, ZBED6 (N474S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350884	NM_001395895.1(ZBED6):c.1552G>A (p.Asp518Asn)	ZC3H11A, ZBED6 (D518N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2600878	NM_001395895.1(ZBED6):c.1601G>C (p.Cys534Ser)	ZBED6, ZC3H11A (C534S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370057	NM_001395895.1(ZBED6):c.1665C>G (p.Phe555Leu)	ZBED6, ZC3H11A (F555L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518224	NM_001395895.1(ZBED6):c.1675A>G (p.Ser559Gly)	ZBED6, ZC3H11A (S559G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532682	NM_001395895.1(ZBED6):c.2227G>A (p.Asp743Asn)	ZBED6, ZC3H11A (D743N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327159	NM_001395895.1(ZBED6):c.2318G>A (p.Cys773Tyr)	ZC3H11A, ZBED6 (C773Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215064	NM_001395895.1(ZBED6):c.2390A>C (p.Glu797Ala)	ZC3H11A, ZBED6 (E797A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556514	NM_001395895.1(ZBED6):c.2402A>G (p.Asn801Ser)	ZBED6, ZC3H11A (N801S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613579	NM_001395895.1(ZBED6):c.2437C>G (p.Pro813Ala)	ZBED6, ZC3H11A (P813A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2387951	NM_001395895.1(ZBED6):c.2602G>A (p.Asp868Asn)	ZC3H11A, ZBED6 (D868N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251039	NM_001395895.1(ZBED6):c.2632T>C (p.Phe878Leu)	ZBED6, ZC3H11A (F878L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2381917	NM_001395895.1(ZBED6):c.2678G>A (p.Ser893Asn)	ZC3H11A, ZBED6 (S893N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367007	NM_001395895.1(ZBED6):c.2844G>C (p.Leu948Phe)	ZBED6, ZC3H11A (L948F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385698	NM_001395895.1(ZBED6):c.2912A>G (p.Gln971Arg)	ZC3H11A, ZBED6 (Q971R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316692	NM_001376342.1(ZC3H11A):c.428G>T (p.Ser143Ile)	ZBED6, ZC3H11A (S143I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317693	NM_001376342.1(ZC3H11A):c.524A>T (p.Asp175Val)	ZC3H11A, ZBED6 (D175V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367020	NM_001376342.1(ZC3H11A):c.544C>G (p.Leu182Val)	ZC3H11A, ZBED6 (L182V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314188	NM_001376342.1(ZC3H11A):c.565C>A (p.His189Asn)	ZBED6, ZC3H11A (H189N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282145	NM_001376342.1(ZC3H11A):c.721A>G (p.Ser241Gly)	ZBED6, ZC3H11A (S241G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522034	NM_001376342.1(ZC3H11A):c.730C>G (p.Leu244Val)	ZBED6, ZC3H11A (L244V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3025007	NM_001376342.1(ZC3H11A):c.798C>A (p.Leu266=)	ZBED6, ZC3H11A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2591257	NM_001376342.1(ZC3H11A):c.800C>G (p.Ser267Cys)	ZC3H11A, ZBED6 (S267C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606019	NM_001376342.1(ZC3H11A):c.803C>T (p.Thr268Ile)	ZBED6, ZC3H11A (T268I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240045	NM_001376342.1(ZC3H11A):c.842C>T (p.Thr281Ile)	ZC3H11A, ZBED6 (T281I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554823	NM_001376342.1(ZC3H11A):c.901C>T (p.Arg301Cys)	ZBED6, ZC3H11A (R301C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523891	NM_001376342.1(ZC3H11A):c.1068C>G (p.Ile356Met)	ZBED6, ZC3H11A (I356M)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530748	NM_001376342.1(ZC3H11A):c.1153C>A (p.Pro385Thr)	ZBED6, ZC3H11A (P385T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495497	NM_001376342.1(ZC3H11A):c.1282G>A (p.Asp428Asn)	ZBED6, ZC3H11A (D428N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458079	NM_001376342.1(ZC3H11A):c.1307T>C (p.Ile436Thr)	ZBED6, ZC3H11A (I436T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2522012	NM_001376342.1(ZC3H11A):c.1388C>T (p.Thr463Ile)	ZC3H11A, ZBED6 (T463I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260876	NM_001376342.1(ZC3H11A):c.1400A>G (p.Gln467Arg)	ZBED6, ZC3H11A (Q467R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253156	NM_001376342.1(ZC3H11A):c.1409A>G (p.His470Arg)	ZC3H11A, ZBED6 (H470R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330775	NM_001376342.1(ZC3H11A):c.1436T>C (p.Leu479Pro)	ZBED6, ZC3H11A (L479P)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539246	NM_001376342.1(ZC3H11A):c.1498G>A (p.Glu500Lys)	ZBED6, ZC3H11A (E500K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363382	NM_001376342.1(ZC3H11A):c.1519C>T (p.Arg507Trp)	ZBED6, ZC3H11A (R507W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374263	NM_001376342.1(ZC3H11A):c.1615G>A (p.Ala539Thr)	ZBED6, ZC3H11A (A539T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331866	NM_001376342.1(ZC3H11A):c.1745G>A (p.Arg582Gln)	ZC3H11A, ZBED6 (R582Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2546945	NM_001376342.1(ZC3H11A):c.1774G>C (p.Val592Leu)	ZBED6, ZC3H11A (V592L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612731	NM_001376342.1(ZC3H11A):c.1858G>A (p.Val620Met)	ZC3H11A, ZBED6 (V620M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593177	NM_001376342.1(ZC3H11A):c.1883G>A (p.Gly628Glu)	ZBED6, ZC3H11A (G628E)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547450	NM_001376342.1(ZC3H11A):c.1937A>G (p.Lys646Arg)	ZBED6, ZC3H11A (K646R)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2617889	NM_001376342.1(ZC3H11A):c.2045C>A (p.Ala682Asp)	ZBED6, ZC3H11A (A680D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469531	NM_001376342.1(ZC3H11A):c.2122G>A (p.Val708Ile)	ZBED6, ZC3H11A (V706I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 775641	NM_001376342.1(ZC3H11A):c.2199C>G (p.Ser733=)	ZBED6, ZC3H11A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2591312	NM_001376342.1(ZC3H11A):c.2233C>A (p.Pro745Thr)	ZBED6, ZC3H11A (P745T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307657	NM_001376342.1(ZC3H11A):c.2264G>T (p.Arg755Leu)	ZBED6, ZC3H11A (R755L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 687955	GRCh37/hg19 1q32.1(chr1:203658206-203938853)x3	ATP2B4, LAX1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 83