ClinVar for Gene (Select 27330) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3315327	NM_014496.5(RPS6KA6):c.125A>T (p.Glu42Val)	RPS6KA6 (E42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315326	NM_014496.5(RPS6KA6):c.211G>A (p.Ala71Thr)	RPS6KA6 (A71T)	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 3156246	NM_014496.5(RPS6KA6):c.88G>C (p.Gly30Arg)	RPS6KA6 (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156245	NM_014496.5(RPS6KA6):c.538G>T (p.Ala180Ser)	RPS6KA6 (A180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156244	NM_014496.5(RPS6KA6):c.1926C>A (p.Phe642Leu)	RPS6KA6 (F642L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156243	NM_014496.5(RPS6KA6):c.1503A>C (p.Lys501Asn)	RPS6KA6 (K501N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156242	NM_014496.5(RPS6KA6):c.1402A>G (p.Ile468Val)	RPS6KA6 (I468V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156241	NM_014496.5(RPS6KA6):c.1376A>G (p.Lys459Arg)	RPS6KA6 (K459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156237	NM_014496.5(RPS6KA6):c.1234A>G (p.Ile412Val)	RPS6KA6 (I412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156236	NM_014496.5(RPS6KA6):c.122G>A (p.Gly41Glu)	RPS6KA6 (G41E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062526	GRCh37/hg19 Xq21.1(chrX:83079769-83526466)	CYLC1, RPS6KA6	Copy number gain	not specified	GUncertain significance
Select item 3062496	GRCh37/hg19 Xq21.1(chrX:82502001-83758394)	CYLC1, HDX +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685711	GRCh37/hg19 Xq13.2-21.31(chrX:73620711-90395211)x1	ABCB7, APOOL +39 more	Copy number loss	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2681525	NM_014496.5(RPS6KA6):c.721G>A (p.Ala241Thr)	RPS6KA6 (A241T)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2660998	NM_014496.5(RPS6KA6):c.12C>T (p.Phe4=)	RPS6KA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2660997	NM_014496.5(RPS6KA6):c.261T>G (p.Val87=)	RPS6KA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660996	NM_014496.5(RPS6KA6):c.2119A>G (p.Met707Val)	RPS6KA6 (M707V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2549754	NM_014496.5(RPS6KA6):c.13G>A (p.Ala5Thr)	RPS6KA6 (A5T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2521193	NM_014496.5(RPS6KA6):c.1569A>G (p.Ile523Met)	RPS6KA6 (I523M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520850	NM_014496.5(RPS6KA6):c.1552C>T (p.Arg518Trp)	RPS6KA6 (R518W)	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 2488872	NM_014496.5(RPS6KA6):c.743G>A (p.Arg248Lys)	RPS6KA6 (R248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480785	NM_014496.5(RPS6KA6):c.510T>G (p.Phe170Leu)	RPS6KA6 (F170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390933	NM_014496.5(RPS6KA6):c.2049A>G (p.Ile683Met)	RPS6KA6 (I683M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352195	NM_014496.5(RPS6KA6):c.1985A>G (p.His662Arg)	RPS6KA6 (H662R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335534	NM_014496.5(RPS6KA6):c.1843A>G (p.Met615Val)	RPS6KA6 (M615V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303770	NM_014496.5(RPS6KA6):c.1205C>T (p.Thr402Ile)	RPS6KA6 (T402I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259107	NM_014496.5(RPS6KA6):c.1189G>A (p.Glu397Lys)	RPS6KA6 (E397K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 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 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 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 1526825	GRCh37/hg19 Xq21.1(chrX:83290874-84051817)	HDX, RPS6KA6	Copy number gain	not specified	GUncertain significance
Select item 1526822	GRCh37/hg19 Xq21.1-21.2(chrX:78104966-86189374)	APOOL, BRWD3 +16 more	Copy number loss	not specified	GPathogenic
Select item 1526815	GRCh37/hg19 Xq13.2-21.31(chrX:72095006-88455505)	APOOL, ABCB7 +49 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 1341135	GRCh37/hg19 Xq21.1-21.31(chrX:78558916-86314970)x2	APOOL, BRWD3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1340330	GRCh37/hg19 Xq21.1(chrX:83122079-83388421)x2	CYLC1, RPS6KA6	Copy number gain	not provided	GUncertain significance
Select item 1288726	NM_014496.5(RPS6KA6):c.2074G>A (p.Asp692Asn)	RPS6KA6 (D692N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
Select item 833505	NC_000023.10:g.(?_82763333)_(86890775_?)del	RPS6KA6, SATL1 +9 more	Deletion	not provided	GPathogenic
Select item 833482	NC_000023.10:g.(?_83372068)_(86924394_?)del	APOOL, CHM +7 more	Deletion	not provided	GPathogenic
Select item 833457	NC_000023.10:g.(?_82763333)_(86924394_?)del	APOOL, CHM +9 more	Deletion	not provided	GPathogenic
Select item 832217	NC_000023.10:g.(?_83372068)_(86890775_?)del	KLHL4, POF1B +7 more	Deletion	not provided	GPathogenic
Select item 831865	NC_000023.10:g.(?_83126460)_(86924394_?)del	APOOL, CHM +8 more	Deletion	not provided	GPathogenic
Select item 816366	GRCh37/hg19 Xq21.1(chrX:82997592-84159678)x2	CYLC1, RPS6KA6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 723331	NM_014496.5(RPS6KA6):c.537C>T (p.Leu179=)	RPS6KA6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	AWAT1, AWAT2 +524 more	Copy number loss	not provided	GUncertain significance
Select item 686630	GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1	APOOL, ATP7A +34 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AWAT2, BCAP31 +502 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 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ABCB7, AKAP4 +281 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
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 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 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	NAA10, NALF2 +509 more	Copy number gain	See cases	GPathogenic
Select item 442945	GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	ABCD1, ACSL4 +410 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 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	OR13H1, OTUD6A +505 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	ABCB7, ABCD1 +523 more	Copy number gain	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	YIPF6, ZBTB33 +505 more	Copy number gain	See cases	GPathogenic
Select item 442001	GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	ABCD1, ACSL4 +406 more	Copy number loss	See cases	GPathogenic
Select item 441843	GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)	PLP1, PLS3 +158 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
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	BEX1, BEX2 +819 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	ABCB7, ADGRG2 +818 more	Copy number loss	See cases	GPathogenic
Select item 394066	GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	TCEAL8, TCEAL9 +299 more	Copy number gain	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic

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