ClinVar for Gene (Select 8233) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367176	NM_005089.4(ZRSR2):c.1211_1212del (p.Gly404fs)	ZRSR2 (G404fs)	Deletion (frameshift variant)	OROFACIODIGITAL SYNDROME XXI	GPathogenic
Select item 3341118	NM_005089.4(ZRSR2):c.1120_1121dup (p.Ser375fs)	ZRSR2 (S375fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3341117	NM_005089.4(ZRSR2):c.224G>A (p.Trp75Ter)	ZRSR2 (W75*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3341112	NM_005089.4(ZRSR2):c.868C>T (p.Arg290Ter)	ZRSR2 (R290*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3260021	NM_005089.4(ZRSR2):c.656A>G (p.Tyr219Cys)	ZRSR2 (Y219C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260020	NM_005089.4(ZRSR2):c.1040A>G (p.Tyr347Cys)	ZRSR2 (Y347C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245767	NC_000023.10:g.(?_14027032)_(19854400_?)del	ASB9, BEND2 +35 more	Deletion	not provided	GPathogenic
Select item 3245494	NC_000023.10:g.(?_15339628)_(15870650_?)dup	ACE2, AP1S2 +8 more	Duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3199290	NM_005089.4(ZRSR2):c.710T>A (p.Leu237Gln)	ZRSR2 (L237Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199289	NM_005089.4(ZRSR2):c.545G>A (p.Arg182Lys)	ZRSR2 (R182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199288	NM_005089.4(ZRSR2):c.439T>C (p.Leu147=)	ZRSR2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062507	GRCh37/hg19 Xp22.2(chrX:13948313-16844723)	ACE2, AP1S2 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 2685735	GRCh37/hg19 Xp22.2(chrX:15355549-15867966)x2	VEGFD, ACE2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684970	GRCh37/hg19 Xp22.2(chrX:15470776-15971875)x3	ACE2, AP1S2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2660060	NM_005089.4(ZRSR2):c.930G>T (p.Ala310=)	ZRSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660059	NM_005089.4(ZRSR2):c.418C>T (p.Leu140=)	ZRSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2540223	NM_005089.4(ZRSR2):c.1297C>T (p.Arg433Cys)	ZRSR2 (R433C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2479512	NM_005089.4(ZRSR2):c.1286G>A (p.Arg429His)	ZRSR2 (R429H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466611	NM_005089.4(ZRSR2):c.1110C>G (p.His370Gln)	ZRSR2 (H370Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424794	NC_000023.10:g.(?_15580028)_(15864154_?)dup	ACE2, AP1S2 +4 more	Duplication	not provided	GUncertain significance
Select item 2424508	NC_000023.10:g.(?_14861689)_(15870650_?)del	ACE2, AP1S2 +12 more	Deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 2	GPathogenic
Select item 2423477	NC_000023.10:g.(?_14861689)_(15870650_?)dup	ACE2, AP1S2 +12 more	Duplication	not provided	GUncertain significance
Select item 2359254	NM_005089.4(ZRSR2):c.1009A>G (p.Asn337Asp)	ZRSR2 (N337D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333758	NM_005089.4(ZRSR2):c.355A>G (p.Arg119Gly)	ZRSR2 (R119G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322488	NM_005089.4(ZRSR2):c.1201C>T (p.Arg401Cys)	ZRSR2 (R401C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308660	NM_005089.4(ZRSR2):c.1342C>T (p.Arg448Cys)	ZRSR2 (R448C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297582	NM_005089.4(ZRSR2):c.151A>G (p.Thr51Ala)	ZRSR2 (T51A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246732	NM_005089.4(ZRSR2):c.1270G>C (p.Gly424Arg)	ZRSR2 (G424R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239159	NM_005089.4(ZRSR2):c.1070T>C (p.Phe357Ser)	ZRSR2 (F357S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808959	GRCh37/hg19 Xp22.2(chrX:15608952-15831401)x2	ACE2, CA5B +3 more	Copy number gain	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526764	GRCh37/hg19 Xp22.2(chrX:15445440-16061424)	ACE2, AP1S2 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 978620	NM_005089.4(ZRSR2):c.1207_1208del (p.Arg403fs)	ZRSR2 (R403fs)	Deletion (frameshift variant)	Heart, malformation of +3 more	GLikely pathogenic
Select item 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	not provided	GPathogenic
Select item 816312	GRCh37/hg19 Xp22.2(chrX:15674696-16049674)x3	CA5B, INE2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 816311	GRCh37/hg19 Xp22.2-22.13(chrX:15415636-18339030)x1	RAI2, AP1S2 +19 more	Copy number loss	not provided	GUncertain significance
Select item 816310	GRCh37/hg19 Xp22.2(chrX:15319722-16018163)x2	BMX, ACE2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 816281	GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2	FAM9B, AMELX +82 more	Copy number gain	not provided	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 816269	GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1	TCEANC, CLTRN +90 more	Copy number loss	not provided	GPathogenic
Select item 816245	GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1	GRPR, STS +66 more	Copy number loss	not provided	GPathogenic
Select item 773378	NM_005089.4(ZRSR2):c.909C>T (p.Pro303=)	ZRSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689077	GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	ACE2, ADGRG2 +46 more	Copy number gain	not provided	GPathogenic
Select item 689075	GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	ACE2, ADGRG2 +46 more	Copy number gain	not provided	GPathogenic
Select item 688883	GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687886	GRCh37/hg19 Xp22.2(chrX:15674802-16147121)x2	AP1S2, CA5B +4 more	Copy number gain	not provided	GUncertain significance
Select item 687388	GRCh37/hg19 Xp22.2(chrX:15172188-16136635)x2	ACE2, AP1S2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 685809	GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2	ACE2, ADGRG2 +39 more	Copy number gain	not provided	GPathogenic
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685498	GRCh37/hg19 Xp22.2(chrX:14897121-15895646)x3	ACE2, AP1S2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 685414	GRCh37/hg19 Xp22.2(chrX:15334953-16221373)x2	ACE2, AP1S2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684963	GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	ACE2, ACOT9 +139 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 635934	Single allele	SUPT20HL2, SYAP1 +177 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625794	GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic
Select item 564789	GRCh37/hg19 Xp22.2(chrX:15772413-16261761)x3	GRPR, INE2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 564788	GRCh37/hg19 Xp22.2(chrX:15486059-16018163)x3	INE2, CLTRN +6 more	Copy number gain	not provided	GUncertain significance
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 564698	GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3	ANOS1, FANCB +82 more	Copy number gain	not provided	GPathogenic
Select item 564696	GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	ACE2, ACOT9 +170 more	Copy number loss	not provided	GPathogenic
Select item 564695	GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	ACE2, ACOT9 +154 more	Copy number loss	not provided	GPathogenic
Select item 564694	GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1	PRDX4, ADGRG2 +94 more	Copy number loss	not provided	GPathogenic
Select item 564693	GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1	STS, OFD1 +71 more	Copy number loss	not provided	GPathogenic
Select item 564692	GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1	FRMPD4, AP1S2 +59 more	Copy number loss	not provided	GPathogenic
Select item 545379	Single allele	ACE2, ACE2-DT +399 more	Duplication	Autism	GLikely pathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443634	GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1	ACE2, ACOT9 +127 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	SYN1, SYP +294 more	Copy number loss	See cases	GPathogenic
Select item 442812	GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3	ACE2, ACOT9 +105 more	Copy number gain	See cases	GPathogenic
Select item 442790	GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1	ACE2, ACOT9 +131 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	AP1S2, APEX2 +300 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ARSF, XAGE2 +312 more	Copy number loss	See cases	GPathogenic
Select item 442024	GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2	ACE2, ACOT9 +65 more	Copy number gain	See cases	GLikely pathogenic
Select item 441995	GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1	ACE2, ACOT9 +121 more	Copy number loss	See cases	GPathogenic
Select item 441968	GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	AP1S2, APEX2 +312 more	Copy number loss	See cases	GPathogenic

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