ClinVar for Gene (Select 347404) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391948	GRCh37/hg19 Xp22.2-11.23(chrX:15392463-48777470)x1	ACE2, ACOT9 +162 more	Copy number loss	not provided	GPathogenic
Select item 3290098	NM_001170331.2(LANCL3):c.164C>A (p.Thr55Lys)	LANCL3 (T55K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251270	NM_001170331.2(LANCL3):c.1103+930A>G	LANCL3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235121	Single allele	CFAP47, CYBB +22 more	Deletion	McLeod neuroacanthocytosis syndrome	GPathogenic
Select item 3117789	NM_001170331.2(LANCL3):c.430G>T (p.Val144Leu)	LANCL3 (V144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117788	NM_001170331.2(LANCL3):c.373G>T (p.Ala125Ser)	LANCL3 (A125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117787	NM_001170331.2(LANCL3):c.169G>A (p.Gly57Arg)	LANCL3 (G57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117786	NM_001170331.2(LANCL3):c.1252G>A (p.Val418Ile)	LANCL3 (V418I)	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 3062483	GRCh37/hg19 Xp21.1-11.4(chrX:33027159-39840641)	CFAP47, CYBB +17 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 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685701	GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1	XK, ARX +51 more	Copy number loss	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 2660285	NM_001170331.2(LANCL3):c.1103+918G>C	LANCL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660284	NM_001170331.2(LANCL3):c.942G>A (p.Pro314=)	LANCL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660283	NM_001170331.2(LANCL3):c.888C>T (p.Gly296=)	LANCL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660282	NM_001170331.2(LANCL3):c.698-4A>G	LANCL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660281	NM_001170331.2(LANCL3):c.504C>T (p.Asp168=)	LANCL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660280	NM_001170331.2(LANCL3):c.342C>T (p.Ala114=)	LANCL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2595918	NM_001170331.2(LANCL3):c.1104G>C (p.Arg368Ser)	LANCL3 (R368S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560978	NM_001170331.2(LANCL3):c.334C>G (p.Pro112Ala)	LANCL3 (P112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548257	NM_001170331.2(LANCL3):c.400G>A (p.Val134Ile)	LANCL3 (V134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532614	NM_001170331.2(LANCL3):c.944A>G (p.Gln315Arg)	LANCL3 (Q315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526292	NM_001170331.2(LANCL3):c.41A>T (p.Tyr14Phe)	LANCL3 (Y14F)	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 2477420	NM_001170331.2(LANCL3):c.680A>G (p.Tyr227Cys)	LANCL3 (Y227C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407148	NM_001170331.2(LANCL3):c.640A>G (p.Ile214Val)	LANCL3 (I214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400471	NM_001170331.2(LANCL3):c.490G>C (p.Glu164Gln)	LANCL3 (E164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392927	NM_001170331.2(LANCL3):c.841G>A (p.Gly281Ser)	LANCL3 (G281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380361	NM_001170331.2(LANCL3):c.1075A>G (p.Asn359Asp)	LANCL3 (N359D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376653	NM_001170331.2(LANCL3):c.454G>A (p.Ala152Thr)	LANCL3 (A152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361133	NM_001170331.2(LANCL3):c.187G>T (p.Gly63Trp)	LANCL3 (G63W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331219	NM_001170331.2(LANCL3):c.131C>A (p.Pro44Gln)	LANCL3 (P44Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321091	NM_001170331.2(LANCL3):c.347C>T (p.Thr116Ile)	LANCL3 (T116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316915	NM_001170331.2(LANCL3):c.935A>T (p.Lys312Met)	LANCL3 (K312M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288225	NM_001170331.2(LANCL3):c.172G>C (p.Ala58Pro)	LANCL3 (A58P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222929	NM_001170331.2(LANCL3):c.268G>C (p.Glu90Gln)	LANCL3 (E90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207914	NM_001170331.2(LANCL3):c.1208T>C (p.Ile403Thr)	LANCL3 (I403T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808493	GRCh37/hg19 Xp21.1(chrX:32419533-37487291)x1	CFAP47, CXorf22 +9 more	Copy number loss	not provided	GPathogenic
Select item 1808178	GRCh37/hg19 Xp21.1-11.4(chrX:37472901-38023139)x2	CYBB, DYNLT3 +5 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 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 1340796	GRCh37/hg19 Xp21.1-11.4(chrX:37434962-37882707)x3	CYBB, DYNLT3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340643	GRCh37/hg19 Xp21.1(chrX:37221176-37532828)x2	LANCL3, PRRG1	Copy number gain	not provided	GUncertain significance
Select item 1339878	GRCh37/hg19 Xp21.1(chrX:37526649-37554684)x3	LANCL3, XK	Copy number gain	not provided	Gnot provided
Select item 1206222	NM_001170331.2(LANCL3):c.1103+925A>G	LANCL3 (R384G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 979791	GRCh37/hg19 Xp21.1-11.4(chrX:37487291-38568933)x3	OTC, RPGR +8 more	Copy number gain	not provided	GUncertain significance
Select item 979790	GRCh37/hg19 Xp21.1(chrX:37221175-37549799)x3	PRRG1, XK +1 more	Copy number gain	not provided	GUncertain significance
Select item 975141	Single allele	CFAP47, CXorf22 +14 more	Deletion	Retinitis pigmentosa 3	GPathogenic
Select item 833473	NC_000023.10:g.(?_30326313)_(41000684_?)del	ATP6AP2, BCOR +28 more	Deletion	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 816341	GRCh37/hg19 Xp21.1-11.4(chrX:37472900-37879310)x2	H2AP, DYNLT3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 816337	GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1	ATP6AP2, BCOR +32 more	Copy number loss	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 781640	NM_001170331.2(LANCL3):c.867G>A (p.Glu289=)	LANCL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688477	GRCh37/hg19 Xp21.1(chrX:37448237-37568108)x3	LANCL3, XK	Copy number gain	not provided	GUncertain significance
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 685577	GRCh37/hg19 Xp21.1(chrX:37448237-37563710)x2	LANCL3, XK	Copy number gain	not provided	GUncertain significance
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	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 564829	GRCh37/hg19 Xp21.1(chrX:37228137-37536958)x2	LANCL3, PRRG1	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 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 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
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 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +695 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 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	ABCB7, AKAP4 +300 more	Copy number loss	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 441968	GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	AP1S2, APEX2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441856	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	WDR45, WNK3 +313 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	BEX4, BEX5 +566 more	Copy number gain	not provided	GUncertain significance
Select item 402125	GRCh37/hg19 Xp21.1(chrX:37222966-37524396)x2	PRRG1, LANCL3	Copy number gain	See cases	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	TMLHE, TMSB15A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	BEX1, BEX2 +819 more	Copy number gain	See cases	GPathogenic

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