ClinVar for Gene (Select 10742) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3024649	GRCh37/hg19 Xp22.2-22.13(chrX:16582625-18323335)x0	BEND2, CTPS2 +9 more	Copy number loss	not provided	GPathogenic
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 2660094	NM_021785.6(RAI2):c.531G>A (p.Pro177=)	RAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660093	NM_021785.6(RAI2):c.623_634del (p.Gly208_Pro211del)	RAI2	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2660092	NM_021785.6(RAI2):c.816C>T (p.Gly272=)	RAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2624078	NM_021785.6(RAI2):c.1184C>G (p.Pro395Arg)	RAI2 (P395R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613410	NM_021785.6(RAI2):c.1186G>A (p.Ala396Thr)	RAI2 (A346T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612161	NM_021785.6(RAI2):c.1354T>C (p.Cys452Arg)	RAI2 (C452R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600889	NM_021785.6(RAI2):c.1228G>A (p.Glu410Lys)	RAI2 (E410K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589583	NM_021785.6(RAI2):c.1409G>C (p.Arg470Thr)	RAI2 (R420T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558448	NM_021785.6(RAI2):c.1006A>G (p.Ile336Val)	RAI2 (I286V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554550	NM_021785.6(RAI2):c.664T>C (p.Ser222Pro)	RAI2 (S222P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542177	NM_021785.6(RAI2):c.1165G>C (p.Ala389Pro)	RAI2 (A339P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526296	NM_021785.6(RAI2):c.1176T>G (p.His392Gln)	RAI2 (H342Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519535	NM_021785.6(RAI2):c.1428G>T (p.Gln476His)	RAI2 (Q476H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2493336	NM_021785.6(RAI2):c.526C>A (p.Gln176Lys)	RAI2 (Q126K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487670	NM_021785.6(RAI2):c.438C>G (p.Cys146Trp)	RAI2 (C96W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470230	NM_021785.6(RAI2):c.463C>T (p.Leu155Phe)	RAI2 (L155F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464596	NM_021785.6(RAI2):c.821A>C (p.His274Pro)	RAI2 (H274P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2424642	NC_000023.10:g.(?_17393881)_(18665472_?)dup	BEND2, CDKL5 +5 more	Duplication	Angelman syndrome-like +1 more	GUncertain significance
Select item 2424639	NC_000023.10:g.(?_17393881)_(18525300_?)del	BEND2, CDKL5 +4 more	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 2410495	NM_021785.6(RAI2):c.1243C>G (p.Pro415Ala)	RAI2 (P415A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404537	NM_021785.6(RAI2):c.1052G>A (p.Arg351Gln)	RAI2 (R301Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313628	NM_021785.6(RAI2):c.956T>G (p.Leu319Arg)	RAI2 (L269R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311598	NM_021785.6(RAI2):c.911G>A (p.Arg304His)	RAI2 (R304H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296188	NM_021785.6(RAI2):c.1522G>A (p.Val508Met)	RAI2 (V508M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290245	NM_021785.6(RAI2):c.614C>G (p.Pro205Arg)	RAI2 (P205R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257871	NM_021785.6(RAI2):c.1157T>C (p.Phe386Ser)	RAI2 (F336S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249759	NM_021785.6(RAI2):c.1039G>C (p.Val347Leu)	RAI2 (V347L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2232630	NM_021785.6(RAI2):c.640C>T (p.Pro214Ser)	RAI2 (P164S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229083	NM_021785.6(RAI2):c.1582C>T (p.Pro528Ser)	RAI2 (P478S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219097	NM_021785.6(RAI2):c.917C>T (p.Thr306Met)	RAI2 (T306M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1808948	GRCh37/hg19 Xp22.13(chrX:17751088-18863732)x3	SCML1, BEND2 +6 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 1526765	GRCh37/hg19 Xp22.13(chrX:17692786-18107640)	NHS, RAI2 +1 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 1340166	GRCh37/hg19 Xp22.13(chrX:17668096-18275579)x2	SCML2, BEND2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1041824	NC_000023.10:g.(?_17393881)_(20284750_?)dup	ADGRG2, BCLAF3 +15 more	Duplication	Angelman syndrome-like +1 more	GUncertain significance
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 832827	NC_000023.10:g.(?_17393861)_(18671684_?)dup	BEND2, CDKL5 +5 more	Duplication	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
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 816314	GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2	MAP3K15, SCML1 +21 more	Copy number gain	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 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 788342	NM_021785.6(RAI2):c.1002C>A (p.Pro334=)	RAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 784563	NM_021785.6(RAI2):c.813C>T (p.Phe271=)	RAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780685	NM_021785.6(RAI2):c.773C>T (p.Ser258Phe)	RAI2 (S208F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 740738	NM_021785.6(RAI2):c.1386C>T (p.Ser462=)	RAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 737181	NM_021785.6(RAI2):c.531G>T (p.Pro177=)	RAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 727508	NM_021785.6(RAI2):c.222G>A (p.Ala74=)	RAI2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 719850	NM_021785.6(RAI2):c.1263A>G (p.Glu421=)	RAI2	Single nucleotide variant (synonymous variant +1 more)	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 688508	GRCh37/hg19 Xp22.13(chrX:17557444-19260546)x2	ADGRG2, BEND2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
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 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 584356	NC_000023.10:g.(?_17393861)_(18671684_?)del	SCML2, BEND2 +5 more	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 564794	GRCh37/hg19 Xp22.13(chrX:17557444-18142296)x3	NHS, RAI2 +1 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 561261	46,XX,der(X)(p22.13,p22.13)dn.seq[GRCh37/hg19]der(X)(Xpter->Xp22.13(+)(18074005)::GCA...CAC{100}::p22.13(-)(18532312),p22.13(-)(17793009)::p22.13(+)(18248956)->Xqter)dn	RAI2, SCML2 +2 more	Complex	Hypoxic Ischemic Encephalopathy	GUncertain significance
Select item 545561	NM_021785.6(RAI2):c.712G>A (p.Val238Ile)	RAI2 (V238I +1 more)	Single nucleotide variant (missense variant +1 more)	Dextrocardia	GUncertain significance
Select item 545379	Single allele	ACE2, ACE2-DT +399 more	Duplication	Autism	GLikely pathogenic
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	BEX5, BMP15 +541 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 443330	GRCh37/hg19 Xp22.13(chrX:17674125-17991059)x2	NHS, RAI2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	TCEANC, TFE3 +296 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 +133 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	MAGEE1, MAGEE2 +733 more	Copy number loss	See cases	GPathogenic

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