ClinVar for Gene (Select 11238) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3136141	NM_007220.4(CA5B):c.721G>A (p.Glu241Lys)	CA5B, CA5BP1-CA5B (E241K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136140	NM_007220.4(CA5B):c.407T>C (p.Ile136Thr)	CA5B, CA5BP1-CA5B (I136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136139	NM_007220.4(CA5B):c.232C>G (p.Pro78Ala)	CA5B, CA5BP1-CA5B (P78A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136138	NM_007220.4(CA5B):c.224T>A (p.Val75Asp)	CA5B, CA5BP1-CA5B (V75D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136137	NM_007220.4(CA5B):c.187C>T (p.Arg63Cys)	CA5B, CA5BP1-CA5B (R63C)	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 2660058	NM_007220.4(CA5B):c.459+1G>T	CA5BP1-CA5B, CA5B	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 2556471	NM_007220.4(CA5B):c.248T>G (p.Leu83Arg)	CA5B, CA5BP1-CA5B (L83R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510237	NM_007220.4(CA5B):c.41C>G (p.Ser14Cys)	CA5B, CA5BP1-CA5B (S14C)	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 2485470	NM_007220.4(CA5B):c.77C>T (p.Pro26Leu)	CA5B, CA5BP1-CA5B (P26L)	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 2407865	NM_007220.4(CA5B):c.845G>A (p.Arg282His)	CA5B, CA5BP1-CA5B +1 more (R282H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401023	NM_007220.4(CA5B):c.449T>C (p.Phe150Ser)	CA5B, CA5BP1-CA5B (F150S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388712	NM_007220.4(CA5B):c.602C>T (p.Pro201Leu)	CA5B, CA5BP1-CA5B (P201L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382608	NM_007220.4(CA5B):c.102C>G (p.Cys34Trp)	CA5B, CA5BP1-CA5B (C34W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351603	NM_007220.4(CA5B):c.140C>T (p.Ala47Val)	CA5B, CA5BP1-CA5B (A47V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342688	NM_007220.4(CA5B):c.632A>G (p.Glu211Gly)	CA5B, CA5BP1-CA5B (E211G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329764	NM_007220.4(CA5B):c.247C>G (p.Leu83Val)	CA5B, CA5BP1-CA5B (L83V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322932	NM_007220.4(CA5B):c.202A>G (p.Asn68Asp)	CA5B, CA5BP1-CA5B (N68D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307242	NM_007220.4(CA5B):c.811G>A (p.Gly271Arg)	CA5B, CA5BP1-CA5B (G271R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307096	NM_007220.4(CA5B):c.433G>A (p.Val145Met)	CA5B, CA5BP1-CA5B (V145M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303680	NM_007220.4(CA5B):c.890G>A (p.Arg297Gln)	CA5B, CA5BP1-CA5B +1 more (R297Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2263185	NM_007220.4(CA5B):c.878G>A (p.Arg293His)	CA5B, CA5BP1-CA5B +1 more (R293H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205423	NM_007220.4(CA5B):c.148C>G (p.Pro50Ala)	CA5B, CA5BP1-CA5B (P50A)	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 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 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 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 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 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	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 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	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	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 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
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +392 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	ACE2, ACOT9 +302 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ACE2, ACOT9 +314 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	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 441856	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	JADE3, KCND1 +315 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic

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