ClinVar for Gene (Select 55787) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330356	NM_018360.3(TXLNG):c.692G>A (p.Arg231Gln)	TXLNG (R99Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330355	NM_018360.3(TXLNG):c.49G>A (p.Glu17Lys)	TXLNG (E17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330354	NM_018360.3(TXLNG):c.451A>G (p.Thr151Ala)	TXLNG (T151A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330353	NM_018360.3(TXLNG):c.1496C>T (p.Ala499Val)	TXLNG (A367V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3330351	NM_018360.3(TXLNG):c.1258C>T (p.Arg420Cys)	TXLNG (R288C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330350	NM_018360.3(TXLNG):c.888T>G (p.His296Gln)	TXLNG (H164Q +1 more)	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 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3185131	NM_018360.3(TXLNG):c.998C>T (p.Ala333Val)	TXLNG (A333V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185130	NM_018360.3(TXLNG):c.967C>G (p.Gln323Glu)	TXLNG (Q323E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185129	NM_018360.3(TXLNG):c.910G>T (p.Val304Leu)	TXLNG (V304L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185128	NM_018360.3(TXLNG):c.430C>G (p.Gln144Glu)	TXLNG (Q144E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185127	NM_018360.3(TXLNG):c.271G>A (p.Glu91Lys)	TXLNG (E91K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3185126	NM_018360.3(TXLNG):c.1559C>A (p.Ser520Tyr)	TXLNG (S520Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185124	NM_018360.3(TXLNG):c.1346A>G (p.Asn449Ser)	TXLNG (N317S +1 more)	Single nucleotide variant (missense variant)	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 3062494	GRCh37/hg19 Xp22.2(chrX:16364096-16885257)	CTPS2, RBBP7 +3 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 3024650	GRCh37/hg19 Xp22.2-22.13(chrX:16773068-17546881)x3	NHS, RBBP7 +3 more	Copy number gain	not provided	GUncertain significance
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 2660070	NM_018360.3(TXLNG):c.1578G>T (p.Ser526=)	TXLNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660069	NM_018360.3(TXLNG):c.1347T>C (p.Asn449=)	TXLNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619073	NM_018360.3(TXLNG):c.560T>C (p.Ile187Thr)	TXLNG (I55T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513139	NM_018360.3(TXLNG):c.1561G>C (p.Ala521Pro)	TXLNG (A389P +1 more)	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 2496103	NM_018360.3(TXLNG):c.175C>G (p.Gln59Glu)	TXLNG (Q59E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494905	NM_018360.3(TXLNG):c.1076A>G (p.Asp359Gly)	TXLNG (D227G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370625	NM_018360.3(TXLNG):c.254G>C (p.Gly85Ala)	TXLNG (G85A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350265	NM_018360.3(TXLNG):c.1279C>G (p.Leu427Val)	TXLNG (L295V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328068	NM_018360.3(TXLNG):c.112G>A (p.Gly38Ser)	TXLNG (G38S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325819	NM_018360.3(TXLNG):c.1129A>G (p.Thr377Ala)	TXLNG (T377A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317078	NM_018360.3(TXLNG):c.390C>A (p.Asn130Lys)	TXLNG (N130K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316318	NM_018360.3(TXLNG):c.869T>C (p.Ile290Thr)	TXLNG (I158T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314036	NM_018360.3(TXLNG):c.212G>A (p.Cys71Tyr)	TXLNG (C71Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269778	NM_018360.3(TXLNG):c.835C>G (p.Leu279Val)	TXLNG (L147V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266703	NM_018360.3(TXLNG):c.728A>G (p.His243Arg)	TXLNG (H243R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220805	NM_018360.3(TXLNG):c.13G>T (p.Val5Leu)	TXLNG (V5L)	Single nucleotide variant (missense variant)	not specified	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 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 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 816245	GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1	GRPR, STS +66 more	Copy number loss	not provided	GPathogenic
Select item 714920	NM_018360.3(TXLNG):c.1527A>C (p.Arg509Ser)	TXLNG (R377S +1 more)	Single nucleotide variant (missense 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 686110	GRCh37/hg19 Xp22.2(chrX:16766262-16892255)x2	RBBP7, SYAP1 +1 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 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 564791	GRCh37/hg19 Xp22.2-22.13(chrX:16709776-17445121)x2	RBBP7, TXLNG +4 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 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
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 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

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