ClinVar for Gene (Select 158763) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	ABCD1, ACTRT1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	ABCD1, ACTRT1 +221 more	Copy number loss	not provided	GPathogenic
Select item 3128818	NM_144967.4(ARHGAP36):c.644T>C (p.Ile215Thr)	ARHGAP36 (I79T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128817	NM_144967.4(ARHGAP36):c.599C>T (p.Ala200Val)	ARHGAP36 (A64V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128816	NM_144967.4(ARHGAP36):c.547G>T (p.Gly183Trp)	ARHGAP36 (G47W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128815	NM_144967.4(ARHGAP36):c.283G>A (p.Asp95Asn)	ARHGAP36 (D83N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128814	NM_144967.4(ARHGAP36):c.1285C>G (p.Pro429Ala)	ARHGAP36 (P429A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062582	GRCh37/hg19 Xq26.1-26.2(chrX:130158316-130891328)	ARHGAP36, IGSF1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062486	GRCh37/hg19 Xq26.1-26.2(chrX:130158315-130891328)	ARHGAP36, IGSF1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3026271	NM_144967.4(ARHGAP36):c.1579C>T (p.Arg527Cys)	ARHGAP36 (R391C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
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 2623948	NM_144967.4(ARHGAP36):c.112G>C (p.Ala38Pro)	ARHGAP36 (A38P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536862	NM_144967.4(ARHGAP36):c.133C>A (p.Arg45Ser)	ARHGAP36 (R33S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513371	NM_144967.4(ARHGAP36):c.466C>G (p.Arg156Gly)	ARHGAP36 (R144G +2 more)	Single nucleotide variant (missense variant)	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 2472942	NM_144967.4(ARHGAP36):c.1600C>T (p.Arg534Trp)	ARHGAP36 (R534W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412282	NM_144967.4(ARHGAP36):c.167C>G (p.Ser56Cys)	ARHGAP36 (S44C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388310	NM_144967.4(ARHGAP36):c.1579C>A (p.Arg527Ser)	ARHGAP36 (R527S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367811	NM_144967.4(ARHGAP36):c.140C>T (p.Thr47Met)	ARHGAP36 (T35M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335669	NM_144967.4(ARHGAP36):c.1568C>T (p.Pro523Leu)	ARHGAP36 (P387L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2331316	NM_144967.4(ARHGAP36):c.1314G>C (p.Lys438Asn)	ARHGAP36 (K302N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330617	NM_144967.4(ARHGAP36):c.32C>A (p.Ala11Glu)	ARHGAP36 (A11E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324725	NM_144967.4(ARHGAP36):c.715G>A (p.Val239Ile)	ARHGAP36 (V239I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314949	NM_144967.4(ARHGAP36):c.1456G>A (p.Val486Ile)	ARHGAP36 (V350I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306143	NM_144967.4(ARHGAP36):c.288G>C (p.Lys96Asn)	ARHGAP36 (K84N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284850	NM_144967.4(ARHGAP36):c.38C>T (p.Ala13Val)	ARHGAP36 (A13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280859	NM_144967.4(ARHGAP36):c.599C>A (p.Ala200Asp)	ARHGAP36 (A200D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262013	NM_144967.4(ARHGAP36):c.1247G>A (p.Arg416His)	ARHGAP36 (R280H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216060	NM_144967.4(ARHGAP36):c.1055A>G (p.His352Arg)	ARHGAP36 (H340R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809290	GRCh37/hg19 Xq26.1(chrX:129533578-130299562)x2	ARHGAP36, ENOX2 +1 more	Copy number gain	not provided	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 1710922	GRCh37/hg19 Xq26.1-26.2(chrX:129711889-132794615)x3	ARHGAP36, ENOX2 +11 more	Copy number gain	See cases	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 1526849	GRCh37/hg19 Xq26.1-26.2(chrX:130158315-130891909)	ARHGAP36, IGSF1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1526848	GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)	ACTRT1, AIFM1 +22 more	Copy number gain	not specified	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 1340205	GRCh37/hg19 Xq26.1-26.2(chrX:130158316-130891328)x2	ARHGAP36, IGSF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1339995	GRCh37/hg19 Xq26.1(chrX:129769240-130230464)x2	ARHGAP36, ENOX2	Copy number gain	not provided	GUncertain significance
Select item 1199401	GRCh37/hg19 Xq26.1-26.2(chrX:130085469-130482969)x0	ARHGAP36, IGSF1	Copy number loss	See cases	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 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 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 816393	GRCh37/hg19 Xq26.1-26.2(chrX:130158315-130891325)x3	IGSF1, OR13H1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816392	GRCh37/hg19 Xq26.1(chrX:129769236-130228660)x2	ENOX2, ARHGAP36	Copy number gain	not provided	GUncertain significance
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 689225	GRCh37/hg19 Xq26.1-26.2(chrX:130071456-130886364)x2	ARHGAP36, IGSF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 689018	GRCh37/hg19 Xq26.1-26.2(chrX:130152544-130894737)x3	ARHGAP36, IGSF1 +1 more	Copy number gain	not provided	GUncertain significance
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 624442	NM_144967.4(ARHGAP36):c.884A>G (p.Lys295Arg)	ARHGAP36, LOC126863318 (K159R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 443631	GRCh37/hg19 Xq26.1-26.2(chrX:130158315-130891328)x3	ARHGAP36, IGSF1 +1 more	Copy number gain	See cases	GLikely benign
Select item 443630	GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	ABCD1, ACTRT1 +278 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ZCCHC12, ZCCHC13 +698 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	See cases	GPathogenic
Select item 442945	GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	RENBP, RHOXF1 +411 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	MAGEE1, MAGEE2 +733 more	Copy number loss	See cases	GPathogenic
Select item 442712	GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	ABCB7, ABCD1 +506 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	ABCB7, ABCD1 +524 more	Copy number gain	See cases	GPathogenic
Select item 442422	GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	ABCD1, ACSL4 +394 more	Copy number loss	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	ARMCX5-GPRASP2, ARMCX6 +506 more	Copy number gain	See cases	GPathogenic
Select item 442262	GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	ABCD1, ACTRT1 +267 more	Copy number loss	See cases	GPathogenic
Select item 442001	GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	ABCD1, ACSL4 +407 more	Copy number loss	See cases	GPathogenic
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 395246	GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	IRAK1, IRS4 +388 more	Copy number loss	See cases	GPathogenic

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