ZAR1[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	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 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 149579	GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3	ATP10D, CNGA1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 2337691	NM_175619.3(ZAR1):c.5C>T (p.Ala2Val)	LOC129992571, ZAR1 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604271	NM_175619.3(ZAR1):c.11T>C (p.Leu4Pro)	LOC129992571, ZAR1 (L4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191767	NM_175619.3(ZAR1):c.42C>A (p.Phe14Leu)	LOC129992571, ZAR1 (F14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191770	NM_175619.3(ZAR1):c.44C>T (p.Pro15Leu)	LOC129992571, ZAR1 (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191769	NM_175619.3(ZAR1):c.44C>G (p.Pro15Arg)	LOC129992571, ZAR1 (P15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382980	NM_175619.3(ZAR1):c.58T>C (p.Cys20Arg)	LOC129992571, ZAR1 (C20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235740	NM_175619.3(ZAR1):c.175G>T (p.Ala59Ser)	LOC129992572, ZAR1 (A59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409648	NM_175619.3(ZAR1):c.245G>T (p.Arg82Leu)	ZAR1 (R82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346673	NM_175619.3(ZAR1):c.271G>A (p.Gly91Arg)	ZAR1 (G91R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333792	NM_175619.3(ZAR1):c.283G>C (p.Gly95Arg)	ZAR1 (G95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224248	NM_175619.3(ZAR1):c.304G>C (p.Gly102Arg)	ZAR1 (G102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287256	NM_175619.3(ZAR1):c.316G>A (p.Val106Met)	ZAR1 (V106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319164	NM_175619.3(ZAR1):c.320C>T (p.Ala107Val)	ZAR1 (A107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357836	NM_175619.3(ZAR1):c.346G>A (p.Ala116Thr)	ZAR1 (A116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212356	NM_175619.3(ZAR1):c.353T>C (p.Val118Ala)	ZAR1 (V118A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362372	NM_175619.3(ZAR1):c.386G>T (p.Arg129Leu)	ZAR1 (R129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388307	NM_175619.3(ZAR1):c.388C>T (p.Arg130Trp)	ZAR1 (R130W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350141	NM_175619.3(ZAR1):c.389G>A (p.Arg130Gln)	ZAR1 (R130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300065	NM_175619.3(ZAR1):c.400C>T (p.Pro134Ser)	ZAR1 (P134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471273	NM_175619.3(ZAR1):c.412G>A (p.Ala138Thr)	ZAR1 (A138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229232	NM_175619.3(ZAR1):c.428A>C (p.Glu143Ala)	ZAR1 (E143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191768	NM_175619.3(ZAR1):c.449C>G (p.Ser150Cys)	ZAR1 (S150C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191771	NM_175619.3(ZAR1):c.476G>A (p.Gly159Asp)	ZAR1 (G159D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333793	NM_175619.3(ZAR1):c.479T>A (p.Leu160Gln)	ZAR1 (L160Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227112	NM_175619.3(ZAR1):c.490A>C (p.Ser164Arg)	ZAR1 (S164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191772	NM_175619.3(ZAR1):c.535G>A (p.Val179Ile)	ZAR1 (V179I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333791	NM_175619.3(ZAR1):c.563G>A (p.Arg188His)	ZAR1 (R188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513945	NM_175619.3(ZAR1):c.595C>T (p.Pro199Ser)	ZAR1 (P199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372495	NM_175619.3(ZAR1):c.630C>A (p.Asp210Glu)	ZAR1 (D210E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623412	NM_175619.3(ZAR1):c.662A>G (p.Gln221Arg)	ZAR1 (Q221R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191773	NM_175619.3(ZAR1):c.668C>T (p.Pro223Leu)	ZAR1 (P223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191774	NM_175619.3(ZAR1):c.670G>C (p.Glu224Gln)	ZAR1 (E224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297878	NM_175619.3(ZAR1):c.671A>G (p.Glu224Gly)	ZAR1 (E224G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384023	NM_175619.3(ZAR1):c.677G>A (p.Gly226Glu)	ZAR1 (G226E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261893	NM_175619.3(ZAR1):c.703C>T (p.Arg235Trp)	ZAR1 (R235W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557313	NM_175619.3(ZAR1):c.718G>A (p.Asp240Asn)	ZAR1 (D240N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462763	NM_175619.3(ZAR1):c.770C>T (p.Ala257Val)	ZAR1 (A257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191775	NM_175619.3(ZAR1):c.774C>G (p.Asp258Glu)	ZAR1 (D258E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191776	NM_175619.3(ZAR1):c.794G>C (p.Arg265Pro)	ZAR1 (R265P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614105	NM_175619.3(ZAR1):c.820C>G (p.Pro274Ala)	ZAR1 (P274A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352293	NM_175619.3(ZAR1):c.842C>T (p.Pro281Leu)	ZAR1 (P281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311637	NM_175619.3(ZAR1):c.853C>T (p.Pro285Ser)	ZAR1 (P285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513946	NM_175619.3(ZAR1):c.869C>T (p.Ala290Val)	ZAR1 (A290V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488172	NM_175619.3(ZAR1):c.904G>T (p.Ala302Ser)	ZAR1 (A302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256042	NM_175619.3(ZAR1):c.905C>G (p.Ala302Gly)	ZAR1 (A302G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313743	NM_175619.3(ZAR1):c.936G>T (p.Glu312Asp)	ZAR1 (E312D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263354	NM_175619.3(ZAR1):c.944A>G (p.Lys315Arg)	ZAR1 (K315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554126	NM_175619.3(ZAR1):c.945G>T (p.Lys315Asn)	ZAR1 (K315N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356467	NM_175619.3(ZAR1):c.956G>A (p.Arg319His)	ZAR1 (R319H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487238	NM_175619.3(ZAR1):c.971A>G (p.Glu324Gly)	ZAR1 (E324G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191778	NM_175619.3(ZAR1):c.992A>G (p.His331Arg)	ZAR1 (H331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328398	NM_175619.3(ZAR1):c.1000G>A (p.Asp334Asn)	ZAR1 (D334N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333794	NM_175619.3(ZAR1):c.1070A>G (p.Gln357Arg)	ZAR1 (Q357R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590243	NM_175619.3(ZAR1):c.1172G>A (p.Arg391His)	ZAR1 (R391H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191764	NM_175619.3(ZAR1):c.1176C>G (p.His392Gln)	ZAR1 (H392Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233326	NM_175619.3(ZAR1):c.1262A>G (p.Lys421Arg)	ZAR1 (K421R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685966	GRCh37/hg19 4p11(chr4:48480855-49089361)x3	CWH43, FRYL +4 more	Copy number gain	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic

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Items: 74