ClinVar for Gene (Select 7499) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333366	NM_001141919.2(XG):c.457A>C (p.Asn153His)	XG (N139H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333365	NM_001141919.2(XG):c.368C>A (p.Thr123Lys)	XG (T123K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3190995	NM_001141919.2(XG):c.460A>G (p.Met154Val)	XG (M139V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190994	NM_001141919.2(XG):c.377G>T (p.Arg126Ile)	XG (R126I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148934	GRCh37/hg19 Xp22.33-22.32(chrX:1919821-4613977)x0	ARSD, ARSD-AS1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 3148849	GRCh37/hg19 Xp22.33-22.32(chrX:168552-5388161)x1	ARSD, ARSD-AS1 +7 more	Copy number loss	not provided	GPathogenic
Select item 3062543	GRCh37/hg19 Xp22.33-22.32(chrX:1734397-4958582)	ARSD, ARSD-AS1 +7 more	Copy number gain	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 3062488	GRCh37/hg19 Xp22.33-22.31(chrX:168546-7545375)	ARSD, ARSD-AS1 +11 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 3024647	GRCh37/hg19 Xp22.33(chrX:198048-2670376)x2	XG	Copy number gain	not provided	GUncertain significance
Select item 2685728	GRCh37/hg19 Xp22.33(chrX:2469001-2932771)x2	ARSD, ARSD-AS1 +4 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 2684963	GRCh37/hg19 Xp22.33(chrX:2627829-3074261)x3	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684962	GRCh37/hg19 Xp22.33(chrX:2616384-2946211)x3	ARSD, ARSD-AS1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684961	GRCh37/hg19 Xp22.33(chrX:2468908-3011375)x3	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684960	GRCh37/hg19 Xp22.33(chrX:2190435-2760763)x3	GYG2, XG	Copy number gain	not provided	GUncertain significance
Select item 2684959	GRCh37/hg19 Xp22.33(chrX:1818053-3699423)x3	ARSD, ARSD-AS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684958	GRCh37/hg19 Xp22.33-22.32(chrX:1734398-4958582)x3	ARSD, ARSD-AS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684950	GRCh37/hg19 Xp22.33(chrX:785058-2693624)x3	XG	Copy number gain	not provided	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 2499158	GRCh37/hg19 Xp22.33-22.31(chrX:200855-6069814)x1	ARSD, ARSD-AS1 +8 more	Copy number loss	not provided	GPathogenic
Select item 2487692	NM_001141919.2(XG):c.574C>T (p.Pro192Ser)	XG (P178S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455911	NM_001141919.2(XG):c.250G>A (p.Gly84Arg)	XG (G84R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375940	NM_001141919.2(XG):c.220C>G (p.Gln74Glu)	XG (Q74E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357835	NM_001141919.2(XG):c.314C>T (p.Pro105Leu)	XG (P105L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308196	NM_001141919.2(XG):c.143C>T (p.Pro48Leu)	XG (P48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234520	NM_001141919.2(XG):c.166C>G (p.Pro56Ala)	XG (P56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809086	GRCh37/hg19 Xp22.33(chrX:2484457-2752096)x3	GYG2, XG	Copy number gain	not provided	GUncertain significance
Select item 1808678	GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
Select item 1808677	GRCh37/hg19 Xp22.33(chrX:201705-2696762)x3	XG	Copy number gain	not provided	GPathogenic
Select item 1808630	GRCh37/hg19 Xp22.33-22.2(chrX:1932788-9676331)x1	ANOS1, ARSD +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807900	GRCh37/hg19 Xp22.33-22.31(chrX:1626596-7832236)x3	ARSD, ARSD-AS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1807716	GRCh37/hg19 Xp22.33(chrX:2703823-3354304)x1	ARSD, ARSD-AS1 +6 more	Copy number loss	not provided	GPathogenic
Select item 1807636	GRCh37/hg19 Xp22.33(chrX:2370150-3027737)x3	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1708269	GRCh37/hg19 Xp22.33(chrX:2696691-3666623)x1	ARSD, ARSD-AS1 +7 more	Copy number loss	Klinefelter syndrome	GPathogenic
Select item 1707443	GRCh37/hg19 Xp22.33-22.2(chrX:168546-11080743)x1	ANOS1, ARSD +24 more	Copy number loss	See cases	GPathogenic
Select item 1706494	GRCh37/hg19 Xp22.33-22.2(chrX:168546-10368820)x1	GYG2, ANOS1 +23 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 1341989	GRCh37/hg19 Xp22.33(chrX:940688-2676609)x3	XG	Copy number gain	not provided	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 1340700	GRCh37/hg19 Xp22.33-22.32(chrX:1-4567282)x1	ARSD, ARSD-AS1 +7 more	Copy number loss	not provided	GPathogenic
Select item 1340276	GRCh37/hg19 Xp22.33(chrX:2428085-3127231)x3	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340025	GRCh37/hg19 Xp22.33(chrX:2571752-3195839)x2	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1339979	GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449837)x0	ARSD, ARSD-AS1 +8 more	Copy number loss	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 988943	GRCh37/hg19 Xp22.33-22.32(chrX:60000-4857212)x1	XG, ARSD +7 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 980846	GRCh37/hg19 Xp22.33(chrX:1922918-2689886)x3	XG	Copy number gain	not provided	GLikely benign
Select item 979653	GRCh37/hg19 Xp22.33(chrX:2571744-3605934)x2	ARSL, GYG2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 979651	GRCh37/hg19 Xp22.33(chrX:2428084-3118627)x2	ARSD-AS1, XG +5 more	Copy number gain	not provided	GUncertain significance
Select item 979648	GRCh37/hg19 Xp22.33(chrX:2422650-2965166)x3	XG, ARSD +5 more	Copy number gain	not provided	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 816485	GRCh37/hg19 Xp22.33-22.31(chrX:60814-6043278)x0	ARSH, ARSD +8 more	Copy number loss	See cases	GPathogenic
Select item 816288	GRCh37/hg19 Xp22.33(chrX:2331372-2693332)x3	XG	Copy number gain	not provided	GLikely benign
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 816278	GRCh37/hg19 Xp22.33(chrX:827260-3057917)x3	ARSD, GYG2 +5 more	Copy number gain	not provided	GUncertain significance
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 816249	GRCh37/hg19 Xp22.33-22.32(chrX:168546-5723788)x0	PRKX, ARSD +7 more	Copy number loss	not provided	GPathogenic
Select item 816248	GRCh37/hg19 Xp22.33-22.31(chrX:168546-8503210)x1	VCX, VCX2 +16 more	Copy number loss	not provided	GPathogenic
Select item 816247	GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449753)x1	ARSF, NLGN4X +8 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 816242	GRCh37/hg19 Xp22.33(chrX:168546-3265521)x0	XG, ARSH +6 more	Copy number loss	not provided	GPathogenic
Select item 816240	GRCh37/hg19 Xp22.33-22.31(chrX:1-7810731)x2	VCX3A, ARSH +12 more	Copy number gain	not provided	GPathogenic
Select item 784997	NM_001141919.2(XG):c.441T>C (p.Tyr147=)	XG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769483	NM_001141919.2(XG):c.455-3C>T	XG	Single nucleotide variant (intron variant)	not provided	GBenign
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 688200	GRCh37/hg19 Xp22.33(chrX:2468907-3011375)x3	ARSD, ARSD-AS1 +5 more	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 687367	GRCh37/hg19 Xp22.33-22.31(chrX:169790-8465951)x1	ARSD, ARSD-AS1 +15 more	Copy number loss	not provided	GPathogenic
Select item 686941	GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
Select item 686939	GRCh37/hg19 Xp22.33(chrX:168546-2696762)x3	XG	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 625794	GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic
Select item 625641	GRCh37/hg19 Xp22.33-22.31(chrX:1-9298403)	ANOS1, ARSD +18 more	Copy number loss	not provided	GPathogenic
Select item 564746	GRCh37/hg19 Xp22.33-22.32(chrX:2703822-4472534)x1	XG, MXRA5 +7 more	Copy number loss	not provided	GPathogenic
Select item 564745	GRCh37/hg19 Xp22.33(chrX:2566001-2842587)x3	GYG2, ARSD +2 more	Copy number gain	not provided	GUncertain significance
Select item 564744	GRCh37/hg19 Xp22.33(chrX:2521511-2709659)x3	XG	Copy number gain	not provided	GUncertain significance
Select item 564742	GRCh37/hg19 Xp22.33-22.31(chrX:2051958-8135053)x1	STS, GYG2 +13 more	Copy number loss	not provided	GUncertain significance
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 564691	GRCh37/hg19 Xp22.33-22.31(chrX:168546-7796566)x1	MXRA5, ARSH +11 more	Copy number loss	not provided	GPathogenic

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