ClinVar for Gene (Select 7626) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	ABCB7, ABCD1 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3198134	NM_007131.5(ZNF75D):c.850A>C (p.Asn284His)	ZNF75D (N189H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198133	NM_007131.5(ZNF75D):c.727T>C (p.Tyr243His)	ZNF75D (Y148H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198131	NM_007131.5(ZNF75D):c.204C>G (p.Ser68Arg)	ZNF75D (S68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198130	NM_007131.5(ZNF75D):c.1513T>C (p.Cys505Arg)	ZNF75D (C505R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CMC4, CNGA2 +488 more	Copy number gain	not provided	GPathogenic
Select item 2690469	NM_007131.5(ZNF75D):c.1051C>T (p.Leu351Phe)	ZNF75D (L256F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685720	GRCh37/hg19 Xq26.1-26.3(chrX:129627661-135812056)x1	ADGRG4, ARHGAP36 +46 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685015	GRCh37/hg19 Xq26.3(chrX:134247275-134748504)x3	CT55, INTS6L +2 more	Copy number gain	not provided	GUncertain significance
Select item 2685014	GRCh37/hg19 Xq26.3(chrX:134241192-134990254)x3	CT45A1, CT45A2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2661486	NM_007131.5(ZNF75D):c.366C>T (p.Val122=)	ZNF75D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661485	NM_007131.5(ZNF75D):c.1482A>G (p.Arg494=)	ZNF75D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616244	NM_007131.5(ZNF75D):c.771G>C (p.Lys257Asn)	ZNF75D (K162N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615415	NM_007131.5(ZNF75D):c.1343C>A (p.Pro448His)	ZNF75D (P448H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590961	NM_007131.5(ZNF75D):c.1322G>A (p.Arg441Lys)	ZNF75D (R441K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569186	NM_007131.5(ZNF75D):c.992G>A (p.Arg331Gln)	ZNF75D (R236Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520007	NM_007131.5(ZNF75D):c.331A>G (p.Lys111Glu)	ZNF75D (K111E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519137	NM_007131.5(ZNF75D):c.1469C>T (p.Ser490Leu)	ZNF75D (S395L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511171	NM_007131.5(ZNF75D):c.544G>C (p.Val182Leu)	ZNF75D (V182L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2459516	NM_007131.5(ZNF75D):c.1292G>C (p.Ser431Thr)	ZNF75D (S336T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455906	NM_007131.5(ZNF75D):c.23C>T (p.Ala8Val)	ZNF75D (A8V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408678	NM_007131.5(ZNF75D):c.421C>T (p.His141Tyr)	ZNF75D (H141Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380037	NM_007131.5(ZNF75D):c.901G>A (p.Glu301Lys)	ZNF75D (E206K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301877	NM_007131.5(ZNF75D):c.152A>G (p.His51Arg)	ZNF75D (H51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300988	NM_007131.5(ZNF75D):c.167G>A (p.Arg56His)	ZNF75D (R56H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281483	NM_007131.5(ZNF75D):c.9G>C (p.Met3Ile)	ZNF75D (M3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270958	NM_007131.5(ZNF75D):c.1350A>C (p.Lys450Asn)	ZNF75D (K450N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244090	NM_007131.5(ZNF75D):c.298A>G (p.Ile100Val)	ZNF75D (I100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214458	NM_007131.5(ZNF75D):c.1051C>G (p.Leu351Val)	ZNF75D (L351V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214251	NM_007131.5(ZNF75D):c.1495C>T (p.His499Tyr)	ZNF75D (H499Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207138	NM_007131.5(ZNF75D):c.912A>C (p.Lys304Asn)	ZNF75D (K304N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 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	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1341077	GRCh37/hg19 Xq26.3(chrX:134384556-134586631)x3	ZNF449, ZNF75D	Copy number gain	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	MAMLD1, MAOA +818 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 929365	GRCh37/hg19 Xq26.3(chrX:134314878-134797939)x3	INTS6L, ZNF449 +1 more	Copy number gain	See cases	GUncertain significance
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 781644	NM_007131.5(ZNF75D):c.684G>A (p.Leu228=)	ZNF75D	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 more	Copy number loss	not provided	GUncertain significance
Select item 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625854	GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	ABCD1, ACTRT1 +221 more	Copy number loss	Premature ovarian insufficiency	GLikely pathogenic
Select item 564898	GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1	ACTRT1, CT45A3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564897	GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	ABCD1, ACTRT1 +214 more	Copy number loss	not provided	GPathogenic
Select item 564891	GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1	CT45A3, UTP14A +79 more	Copy number loss	not provided	GPathogenic
Select item 564888	GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3	ACTRT1, ADGRG4 +122 more	Copy number gain	not provided	GPathogenic
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	not provided	GPathogenic
Select item 564874	GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	not provided	GPathogenic
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 more	Copy number loss	not provided	GPathogenic
Select item 560035	Single allele	CT45A1, CT45A2 +8 more	Duplication	not provided	GUncertain significance
Select item 548972	GRCh37/hg19 Xq26.3(chrX:134294325-134786450)x3	CT55, INTS6L +2 more	Copy number gain	See cases	GUncertain significance
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	LOC130068573, LOC130068624 +2631 more	Duplication	Schizophrenia +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	TBL1X, TBX22 +818 more	Copy number gain	See cases	GPathogenic
Select item 443632	GRCh37/hg19 Xq26.2-26.3(chrX:133081342-135086194)x0	CCDC160, CT45A1 +26 more	Copy number loss	See cases	GPathogenic
Select item 443630	GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	LRCH2, LUZP4 +277 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ABCB7, ABCD1 +695 more	Copy number loss	See cases	GPathogenic
Select item 443313	GRCh37/hg19 Xq26.2-26.3(chrX:132183437-134848915)x2	CCDC160, CT45A1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	RBMX2, RBMXL3 +509 more	Copy number gain	See cases	GPathogenic
Select item 442965	GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3	VGLL1, VMA21 +174 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 442821	GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	ACSL4, ACTRT1 +303 more	Copy number gain	See cases	GUncertain significance
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	HDAC8, HDX +731 more	Copy number loss	See cases	GPathogenic
Select item 442712	GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	ABCD1, ACSL4 +384 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	LHFPL1, LONRF3 +505 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	MECP2, MED12 +523 more	Copy number gain	See cases	GPathogenic
Select item 442422	GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	ATP11C, ATP1B4 +393 more	Copy number loss	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	ABCB7, ABCD1 +505 more	Copy number gain	See cases	GPathogenic
Select item 442262	GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	ABCD1, ACTRT1 +266 more	Copy number loss	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 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	FAM133A, FAM156A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	FOXO4, FOXP3 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	TMSB4X, TNMD +819 more	Copy number gain	See cases	GPathogenic
Select item 395246	GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	ABCD1, ACSL4 +387 more	Copy number loss	See cases	GPathogenic
Select item 395066	GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1	ABCD1, ACSL4 +314 more	Copy number loss	See cases	GPathogenic

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