ClinVar for Gene (Select 170960) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3197986	NM_133474.4(ZNF721):c.872C>T (p.Thr291Ile)	ZNF721 (T291I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197985	NM_133474.4(ZNF721):c.787A>G (p.Ser263Gly)	ZNF721 (S263G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197984	NM_133474.4(ZNF721):c.629A>C (p.Glu210Ala)	ZNF721 (E210A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197983	NM_133474.4(ZNF721):c.592C>T (p.Arg198Cys)	ZNF721 (R198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197982	NM_133474.4(ZNF721):c.452A>C (p.Asp151Ala)	ZNF721 (D151A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197981	NM_133474.4(ZNF721):c.343G>C (p.Gly115Arg)	ZNF721 (G115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197980	NM_133474.4(ZNF721):c.289A>G (p.Asn97Asp)	ZNF721 (N97D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197979	NM_133474.4(ZNF721):c.2763A>G (p.Ile921Met)	ZNF721 (I921M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197978	NM_133474.4(ZNF721):c.2728G>A (p.Ala910Thr)	ZNF721 (A910T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197977	NM_133474.4(ZNF721):c.2687G>T (p.Gly896Val)	ZNF721 (G896V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197976	NM_133474.4(ZNF721):c.2665G>A (p.Gly889Arg)	ZNF721 (G889R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197975	NM_133474.4(ZNF721):c.2353G>C (p.Glu785Gln)	ZNF721 (E785Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197973	NM_133474.4(ZNF721):c.2251A>G (p.Lys751Glu)	ZNF721 (K751E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197972	NM_133474.4(ZNF721):c.2238T>G (p.Ile746Met)	ZNF721 (I746M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197971	NM_133474.4(ZNF721):c.2232G>T (p.Lys744Asn)	ZNF721 (K744N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197970	NM_133474.4(ZNF721):c.2217C>A (p.Asn739Lys)	ZNF721 (N739K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197968	NM_133474.4(ZNF721):c.2000A>G (p.Gln667Arg)	ZNF721 (Q667R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197967	NM_133474.4(ZNF721):c.1909G>T (p.Gly637Trp)	ZNF721 (G637W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197966	NM_133474.4(ZNF721):c.1889A>G (p.Gln630Arg)	ZNF721 (Q630R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197965	NM_133474.4(ZNF721):c.185A>G (p.Gln62Arg)	ZNF721 (Q62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197964	NM_133474.4(ZNF721):c.1804C>A (p.Gln602Lys)	ZNF721 (Q602K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197963	NM_133474.4(ZNF721):c.1786C>T (p.Arg596Trp)	ZNF721 (R596W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197962	NM_133474.4(ZNF721):c.1746G>T (p.Glu582Asp)	ZNF721 (E582D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197961	NM_133474.4(ZNF721):c.171C>A (p.Asn57Lys)	ZNF721 (N57K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197960	NM_133474.4(ZNF721):c.1640A>G (p.His547Arg)	ZNF721 (H547R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197959	NM_133474.4(ZNF721):c.1571C>T (p.Thr524Ile)	ZNF721 (T524I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197958	NM_133474.4(ZNF721):c.1556A>G (p.His519Arg)	ZNF721 (H519R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197957	NM_133474.4(ZNF721):c.1309A>C (p.Lys437Gln)	ZNF721 (K437Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197956	NM_133474.4(ZNF721):c.1279G>A (p.Gly427Arg)	ZNF721 (G427R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197955	NM_133474.4(ZNF721):c.119A>G (p.Glu40Gly)	ZNF721 (E40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197954	NM_133474.4(ZNF721):c.1175A>G (p.Glu392Gly)	ZNF721 (E392G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197953	NM_133474.4(ZNF721):c.1031A>G (p.Gln344Arg)	ZNF721 (Q344R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197952	NM_133474.4(ZNF721):c.1010A>C (p.Glu337Ala)	ZNF721 (E337A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3062749	GRCh37/hg19 4p16.3(chr4:68345-463962)x1	ZNF141, ZNF595 +3 more	Copy number loss	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	JAKMIP1, KIAA0232 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685953	GRCh37/hg19 4p16.3(chr4:444267-1325962)x3	ATP5ME, CPLX1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2654527	NM_133474.4(ZNF721):c.347A>G (p.Lys116Arg)	ZNF721 (K116R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654526	NM_133474.4(ZNF721):c.951C>T (p.Ser317=)	ZNF721	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654525	NM_133474.4(ZNF721):c.1722A>G (p.Val574=)	ZNF721	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607740	NM_133474.4(ZNF721):c.2186A>C (p.Asp729Ala)	ZNF721 (D729A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	ABLIM2, ACOX3 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	ABLIM2, ACOX3 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2551904	NM_133474.4(ZNF721):c.308A>G (p.His103Arg)	ZNF721 (H103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544716	NM_133474.4(ZNF721):c.2188C>A (p.Arg730Ser)	ZNF721 (R730S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516574	NM_133474.4(ZNF721):c.952G>A (p.Ala318Thr)	ZNF721 (A318T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510119	NM_133474.4(ZNF721):c.2066A>C (p.Lys689Thr)	ZNF721 (K689T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509240	NM_133474.4(ZNF721):c.1048G>A (p.Val350Ile)	ZNF721 (V350I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483489	NM_133474.4(ZNF721):c.1897A>C (p.Lys633Gln)	ZNF721 (K633Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477158	NM_133474.4(ZNF721):c.1476G>C (p.Lys492Asn)	ZNF721 (K492N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472782	NM_133474.4(ZNF721):c.479C>G (p.Thr160Ser)	ZNF721 (T160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459865	NM_133474.4(ZNF721):c.2113G>A (p.Ala705Thr)	ZNF721 (A705T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455727	NM_133474.4(ZNF721):c.1943A>G (p.Lys648Arg)	ZNF721 (K648R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455094	NM_133474.4(ZNF721):c.257G>A (p.Arg86His)	ZNF721 (R86H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	GRK4, HAUS3 +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2423748	NC_000004.11:g.(?_493125)_(499736_?)dup	PIGG, ZNF721	Duplication	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2423747	NC_000004.11:g.(?_493125)_(663896_?)del	PDE6B, PIGG +1 more	Deletion	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2423744	NC_000004.11:g.(?_493125)_(517722_?)dup	PIGG, ZNF721	Duplication	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2422458	NC_000004.11:g.(?_493125)_(1843544_?)del	FAM53A, MAEA +25 more	Deletion	not provided	GUncertain significance
Select item 2403794	NM_133474.4(ZNF721):c.538C>T (p.Leu180Phe)	ZNF721 (L180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399321	NM_133474.4(ZNF721):c.2687G>A (p.Gly896Glu)	ZNF721 (G896E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2395586	NM_133474.4(ZNF721):c.2658T>G (p.Ile886Met)	ZNF721 (I886M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382483	NM_133474.4(ZNF721):c.1598T>A (p.Val533Glu)	ZNF721 (V533E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380492	NM_133474.4(ZNF721):c.694C>T (p.His232Tyr)	ZNF721 (H232Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380489	NM_133474.4(ZNF721):c.1265G>A (p.Arg422His)	ZNF721 (R422H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376733	NM_133474.4(ZNF721):c.2660A>C (p.His887Pro)	ZNF721 (H887P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373281	NM_133474.4(ZNF721):c.1012T>C (p.Cys338Arg)	ZNF721 (C338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356333	NM_133474.4(ZNF721):c.1781T>C (p.Phe594Ser)	ZNF721 (F594S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354816	NM_133474.4(ZNF721):c.67C>T (p.Pro23Ser)	ZNF721 (P23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332324	NM_133474.4(ZNF721):c.187A>G (p.Lys63Glu)	ZNF721 (K63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329147	NM_133474.4(ZNF721):c.2000A>T (p.Gln667Leu)	ZNF721 (Q667L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327077	NM_133474.4(ZNF721):c.2275G>A (p.Gly759Arg)	ZNF721 (G759R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323283	NM_133474.4(ZNF721):c.2669A>G (p.Glu890Gly)	ZNF721 (E890G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322992	NM_133474.4(ZNF721):c.1060A>G (p.Ile354Val)	ZNF721 (I354V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321677	NM_133474.4(ZNF721):c.1425T>G (p.Cys475Trp)	ZNF721 (C475W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313578	NM_133474.4(ZNF721):c.1010A>G (p.Glu337Gly)	ZNF721 (E337G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310330	NM_133474.4(ZNF721):c.166A>C (p.Met56Leu)	ZNF721 (M56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296202	NM_133474.4(ZNF721):c.1787G>A (p.Arg596Gln)	ZNF721 (R596Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284987	NM_133474.4(ZNF721):c.2474C>A (p.Thr825Asn)	ZNF721 (T825N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252380	NM_133474.4(ZNF721):c.2266A>G (p.Lys756Glu)	ZNF721 (K756E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251180	NM_133474.4(ZNF721):c.2645C>T (p.Ala882Val)	ZNF721 (A882V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248931	NM_133474.4(ZNF721):c.1090G>A (p.Glu364Lys)	ZNF721 (E364K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235745	NM_133474.4(ZNF721):c.995C>T (p.Pro332Leu)	ZNF721 (P332L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235441	NM_133474.4(ZNF721):c.2648A>G (p.His883Arg)	ZNF721 (H883R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235010	NM_133474.4(ZNF721):c.1644G>C (p.Arg548Ser)	ZNF721 (R548S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229080	NM_133474.4(ZNF721):c.775T>A (p.Ser259Thr)	ZNF721 (S259T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223750	NM_133474.4(ZNF721):c.410A>G (p.Tyr137Cys)	ZNF721 (Y137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222208	NM_133474.4(ZNF721):c.1121C>T (p.Thr374Ile)	ZNF721 (T374I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213167	NM_133474.4(ZNF721):c.1315C>A (p.His439Asn)	ZNF721 (H439N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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