ClinVar for Gene (Select 59272) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245767	NC_000023.10:g.(?_14027032)_(19854400_?)del	INE2, MAGEB17 +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	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3136388	NM_001371415.1(ACE2):c.829A>G (p.Asn277Asp)	ACE2 (N277D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136385	NM_001371415.1(ACE2):c.1789G>A (p.Asp597Asn)	ACE2 (D597N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134639	NM_203281.3(BMX):c.640G>A (p.Ala214Thr)	ACE2, BMX (A214T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134636	NM_203281.3(BMX):c.1862T>C (p.Val621Ala)	ACE2, BMX (V620A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134635	NM_203281.3(BMX):c.1711G>C (p.Gly571Arg)	ACE2, BMX (G570R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2660057	NM_001371415.1(ACE2):c.693A>G (p.Glu231=)	ACE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660056	NM_001371415.1(ACE2):c.1101C>T (p.Asp367=)	ACE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660055	NM_203281.3(BMX):c.1611+6C>A	ACE2, BMX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660054	NM_203281.3(BMX):c.1242A>G (p.Arg414=)	ACE2, BMX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2592450	NM_203281.3(BMX):c.1897C>T (p.Arg633Trp)	ACE2, BMX (R632W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550467	NM_001371415.1(ACE2):c.1142A>G (p.Tyr381Cys)	ACE2 (Y35C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530921	NM_001371415.1(ACE2):c.1516G>C (p.Val506Leu)	ACE2 (V160L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516141	NM_203281.3(BMX):c.904T>G (p.Ser302Ala)	ACE2, BMX (S301A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2491784	NM_203281.3(BMX):c.542A>G (p.Lys181Arg)	ACE2, BMX (K181R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2472382	NM_203281.3(BMX):c.1499A>T (p.Tyr500Phe)	ACE2, BMX (Y500F +1 more)	Single nucleotide variant (missense variant +1 more)	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	BMX, CA5B +12 more	Duplication	not provided	GUncertain significance
Select item 2367891	NM_203281.3(BMX):c.635G>C (p.Ser212Thr)	ACE2, BMX (S212T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2345989	NM_203281.3(BMX):c.1408C>G (p.Pro470Ala)	ACE2, BMX (P469A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338936	NM_001371415.1(ACE2):c.1543T>C (p.Tyr515His)	ACE2 (Y515H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312004	NM_001371415.1(ACE2):c.1937C>T (p.Ser646Phe)	ACE2 (S300F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300427	NM_001371415.1(ACE2):c.155C>G (p.Thr52Ser)	ACE2, LOC126863214 (T52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283315	NM_001371415.1(ACE2):c.1027G>A (p.Val343Ile)	ACE2 (V343I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266711	NM_001371415.1(ACE2):c.482G>A (p.Arg161Lys)	ACE2 (R161K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260514	NM_203281.3(BMX):c.1951G>A (p.Glu651Lys)	ACE2, BMX (E650K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249252	NM_203281.3(BMX):c.1711G>A (p.Gly571Arg)	ACE2, BMX (G571R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809502	GRCh37/hg19 Xp22.2(chrX:14644702-15779774)x3	ACE2, ASB11 +10 more	Copy number gain	not provided	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	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 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 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 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	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1284944	NM_001371415.1(ACE2):c.1840G>T (p.Ala614Ser)	ACE2 (A268S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1206057	NM_001371415.1(ACE2):c.655C>T (p.Arg219Cys)	ACE2 (R219C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	MAMLD1, MAOA +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 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	not provided	GPathogenic
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 780203	NM_001371415.1(ACE2):c.77A>G (p.Lys26Arg)	ACE2 (K26R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778980	NM_001371415.1(ACE2):c.2070T>C (p.Asn690=)	ACE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739305	NM_203281.3(BMX):c.1796-9G>C	ACE2, BMX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 728813	NM_203281.3(BMX):c.641C>T (p.Ala214Val)	ACE2, BMX (A214V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 724557	NM_001371415.1(ACE2):c.584-7C>A	ACE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722714	NM_203281.3(BMX):c.1602C>T (p.His534=)	ACE2, BMX	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	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
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	ZNF275, ZNF280C +821 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	PAGE2B, PAGE3 +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 564788	GRCh37/hg19 Xp22.2(chrX:15486059-16018163)x3	INE2, CLTRN +6 more	Copy number gain	not provided	GUncertain significance
Select item 564787	GRCh37/hg19 Xp22.2(chrX:15448015-15714937)x3	CLTRN, ACE2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	ABCB7, ACE2 +415 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	LOC130068573, LOC130068624 +2631 more	Duplication	Schizophrenia +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	TBL1X, TBX22 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	ABCB7, ACE2 +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

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