ClinVar for Gene (Select 5613) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370369	GRCh38/hg38 Xp22.33-22.2(chrX:11091-10219826)x1	AKAP17A, ANOS1 +145 more	Copy number loss	Intellectual disability	GPathogenic
Select item 3310216	NM_005044.5(PRKX):c.916G>A (p.Val306Met)	PRKX (V306M)	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 3218884	NM_005044.5(PRKX):c.910C>T (p.Arg304Cys)	PRKX (R304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218883	NM_005044.5(PRKX):c.773C>G (p.Ala258Gly)	PRKX (A258G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218882	NM_005044.5(PRKX):c.355G>A (p.Glu119Lys)	PRKX (E119K)	Single nucleotide variant (missense variant)	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 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 2684965	GRCh37/hg19 Xp22.33(chrX:3156776-3699396)x3	MXRA5, PRKX	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 2659894	NM_005044.5(PRKX):c.42C>G (p.Ser14Arg)	PRKX (S14R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659893	NM_005044.5(PRKX):c.345G>A (p.Thr115=)	PRKX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659892	NM_005044.5(PRKX):c.390G>A (p.Pro130=)	PRKX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619060	NM_005044.5(PRKX):c.1043C>T (p.Pro348Leu)	PRKX (P348L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605343	NM_005044.5(PRKX):c.1024G>A (p.Asp342Asn)	PRKX (D342N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522576	NM_005044.5(PRKX):c.434C>G (p.Ser145Cys)	PRKX (S145C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509089	NM_005044.5(PRKX):c.1034C>T (p.Ala345Val)	PRKX (A345V)	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 2499158	GRCh37/hg19 Xp22.33-22.31(chrX:200855-6069814)x1	ARSD, ARSD-AS1 +8 more	Copy number loss	not provided	GPathogenic
Select item 2491391	NM_005044.5(PRKX):c.901C>T (p.Arg301Trp)	PRKX (R301W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489065	NM_005044.5(PRKX):c.394G>A (p.Gly132Ser)	PRKX (G132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485816	NM_005044.5(PRKX):c.421C>T (p.Arg141Trp)	PRKX (R141W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410394	NM_005044.5(PRKX):c.17T>C (p.Leu6Pro)	LOC130067898, PRKX (L6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404470	NM_005044.5(PRKX):c.935C>T (p.Pro312Leu)	PRKX (P312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375900	NM_005044.5(PRKX):c.961G>A (p.Val321Met)	PRKX (V321M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364046	NM_005044.5(PRKX):c.358C>T (p.Arg120Cys)	PRKX (R120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341851	NM_005044.5(PRKX):c.902G>A (p.Arg301Gln)	PRKX (R301Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280443	NM_005044.5(PRKX):c.969G>C (p.Lys323Asn)	PRKX (K323N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249271	NM_005044.5(PRKX):c.913T>A (p.Ser305Thr)	PRKX (S305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215578	NM_005044.5(PRKX):c.427C>T (p.Arg143Cys)	PRKX (R143C)	Single nucleotide variant (missense variant)	not specified	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 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 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 1696407	GRCh38/hg38 Xp22.33(chrX:3678994-3822165)x2	LOC130067900, LOC130067901 +13 more	Copy number gain	not provided	Gnot provided
Select item 1526750	GRCh37/hg19 Xp22.33(chrX:2763106-3583305)	ARSD, ARSD-AS1 +6 more	Copy number gain	not specified	GUncertain significance
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 1340979	GRCh37/hg19 Xp22.33(chrX:3296723-3880686)x2	PRKX	Copy number gain	not provided	GUncertain significance
Select item 1340758	GRCh37/hg19 Xp22.33(chrX:3374242-4089086)x3	PRKX	Copy number gain	not provided	GLikely benign
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 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 979822	GRCh37/hg19 Xp22.33-22.31(chrX:3185613-6333434)x1	MXRA5, PRKX +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 979653	GRCh37/hg19 Xp22.33(chrX:2571744-3605934)x2	ARSL, GYG2 +7 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 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 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 816240	GRCh37/hg19 Xp22.33-22.31(chrX:1-7810731)x2	VCX3A, ARSH +12 more	Copy number gain	not provided	GPathogenic
Select item 788046	NM_005044.5(PRKX):c.981C>T (p.Asp327=)	PRKX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784728	NM_005044.5(PRKX):c.952-9G>A	PRKX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777784	NM_005044.5(PRKX):c.951+10A>T	PRKX	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 688412	GRCh37/hg19 Xp22.33-22.31(chrX:3185613-6333441)x0	MXRA5, NLGN4X +1 more	Copy number loss	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 687946	GRCh37/hg19 Xp22.33(chrX:3561109-4057415)x3	PRKX	Copy number gain	not provided	GUncertain significance
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 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 564747	GRCh37/hg19 Xp22.33(chrX:3296069-3944402)x3	PRKX	Copy number gain	not provided	GUncertain significance
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 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
Select item 545379	Single allele	ACE2, ACE2-DT +399 more	Duplication	Autism	GLikely pathogenic

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