ClinVar for Gene (Select 5973) - 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 3313612	NM_002910.6(RENBP):c.246C>G (p.Phe82Leu)	RENBP (F82L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313611	NM_002910.6(RENBP):c.874C>T (p.His292Tyr)	RENBP (H292Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313610	NM_002910.6(RENBP):c.469G>A (p.Ala157Thr)	RENBP (A157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245014	NC_000023.10:g.(?_152482081)_(153416424_?)del	ABCD1, ARHGAP4 +27 more	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	SSR4, TEX28 +40 more	Deletion	Spastic paraplegia +6 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3152984	NM_002910.6(RENBP):c.694G>A (p.Gly232Arg)	RENBP (G232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152982	NM_002910.6(RENBP):c.470C>T (p.Ala157Val)	RENBP (A157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152981	NM_002910.6(RENBP):c.286G>T (p.Ala96Ser)	RENBP (A96S)	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 3066030	NC_000023.11:g.153670446_154329698dup	ABCD1, ARHGAP4 +59 more	Duplication	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 3062554	GRCh37/hg19 Xq28(chrX:153200064-153624564)	EMD, FLNA +11 more	Copy number gain	not specified	GPathogenic
Select item 3062535	GRCh37/hg19 Xq28(chrX:153180240-153421839)	ARHGAP4, HCFC1 +6 more	Copy number gain	not specified	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	CT47A4, ERCC6L +488 more	Copy number gain	not provided	GPathogenic
Select item 2685775	GRCh37/hg19 Xq28(chrX:152941303-153549189)x2	OPN1LW, OPN1MW +20 more	Copy number gain	not provided	GPathogenic
Select item 2685774	GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	GDI1, H2AB1 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685772	GRCh37/hg19 Xq28(chrX:152707335-153624154)x2	ABCD1, ARHGAP4 +29 more	Copy number gain	not provided	GPathogenic
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 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 2661762	NM_002910.6(RENBP):c.1263C>T (p.Pro421=)	RENBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614569	NM_002910.6(RENBP):c.325C>A (p.Pro109Thr)	RENBP (P109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545062	NM_002910.6(RENBP):c.514G>A (p.Ala172Thr)	RENBP (A172T)	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 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2481510	NM_002910.6(RENBP):c.1237C>T (p.Pro413Ser)	RENBP (P413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474457	NM_002910.6(RENBP):c.530G>A (p.Arg177Gln)	RENBP (R177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425259	NC_000023.10:g.(?_153195397)_(153642547_?)dup	EMD, DNASE1L1 +14 more	Duplication	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2424175	NC_000023.10:g.(?_153195397)_(153583460_?)dup	OPN1LW, OPN1MW +10 more	Duplication	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2424169	NC_000023.10:g.(?_153128118)_(153664237_?)dup	DNASE1L1, EMD +18 more	Duplication	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	CMC4, CTAG1A +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2423047	NC_000023.10:g.(?_152954030)_(153283591_?)dup	ABCD1, ARHGAP4 +14 more	Duplication	not provided	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	CTAG1A, CTAG1B +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422159	NC_000023.10:g.(?_152014869)_(153363122_?)dup	ABCD1, ARHGAP4 +31 more	Duplication	not provided	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	Heterotopia, periventricular, X-linked dominant +8 more	GPathogenic
Select item 2411816	NM_002910.6(RENBP):c.557C>G (p.Ala186Gly)	RENBP (A186G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405068	NM_002910.6(RENBP):c.97G>A (p.Val33Met)	RENBP (V33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379443	NM_002910.6(RENBP):c.565A>G (p.Met189Val)	RENBP (M189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321460	NM_002910.6(RENBP):c.464C>T (p.Thr155Met)	RENBP (T155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311050	NM_002910.6(RENBP):c.1270C>G (p.Arg424Gly)	LOC130068840, RENBP (R424G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310639	NM_002910.6(RENBP):c.803G>A (p.Arg268His)	RENBP (R268H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233109	NM_002910.6(RENBP):c.1196T>C (p.Met399Thr)	RENBP (M399T)	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 1710916	GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	ABCD1, BCAP31 +129 more	Copy number loss	See cases	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 1703577	GRCh37/hg19 Xq28(chrX:152815772-153624215)	ABCD1, ARHGAP4 +26 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1703536	GRCh37/hg19 Xq28(chrX:152372767-155233731)	CLIC2, CMC4 +68 more	Copy number gain	Chromosome Xq28 duplication syndrome +1 more	GPathogenic
Select item 1684654	Single allele	HCFC1-AS1, IDH3G +200 more	Deletion	Ectodermal dysplasia and immunodeficiency 1 +5 more	GPathogenic
Select item 1526877	GRCh37/hg19 Xq28(chrX:153135263-153594168)	ARHGAP4, AVPR2 +13 more	Copy number gain	not specified	GPathogenic
Select item 1526876	GRCh37/hg19 Xq28(chrX:153113943-153624020)	ARHGAP4, AVPR2 +14 more	Copy number gain	not specified	GPathogenic
Select item 1526875	GRCh37/hg19 Xq28(chrX:153105394-153421839)	ARHGAP4, AVPR2 +8 more	Copy number gain	not specified	GPathogenic
Select item 1526872	GRCh37/hg19 Xq28(chrX:152970475-153524157)	ABCD1, ARHGAP4 +19 more	Copy number gain	not specified	GPathogenic
Select item 1471983	NC_000023.10:g.(?_152986307)_(153593345_?)dup	IRAK1, OPN1MW2 +20 more	Duplication	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 1342311	Single allele	ABCD1, AFF2 +337 more	Duplication	Syndromic X-linked intellectual disability Lubs type	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 1341091	GRCh37/hg19 Xq28(chrX:152740984-153431748)x2	ABCD1, ARHGAP4 +23 more	Copy number gain	not provided	GPathogenic
Select item 1341085	GRCh37/hg19 Xq28(chrX:153093501-153792322)x2	ARHGAP4, ATP6AP1 +28 more	Copy number gain	not provided	GPathogenic
Select item 1205934	NM_002910.6(RENBP):c.29A>G (p.Asp10Gly)	RENBP (D10G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1077181	Single allele	ARHGAP4, AVPR2 +10 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 1065195	GRCh38/hg38 Xq28(chrX:153858452-154332213)x2	ARHGAP4, AVPR2 +41 more	Copy number gain	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 1013586	GRCh37/hg19 Xq28(chrX:153194251-153623000)x2	OPN1LW, OPN1MW +11 more	Copy number gain	Intellectual disability	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 980886	GRCh37/hg19 Xq28(chrX:152631130-153240286)x3	ABCD1, ARHGAP4 +23 more	Copy number gain	not provided	GUncertain significance
Select item 980883	GRCh37/hg19 Xq28(chrX:153135257-153594096)x3	ARHGAP4, AVPR2 +13 more	Copy number gain	not provided	GPathogenic
Select item 980882	GRCh37/hg19 Xq28(chrX:153113943-153624215)x2	ARHGAP4, AVPR2 +14 more	Copy number gain	not provided	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 916147	NM_002910.6(RENBP):c.304C>T (p.Leu102=)	RENBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 833488	NC_000023.10:g.(?_152954010)_(153363142_?)dup	ABCD1, ARHGAP4 +15 more	Duplication	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 831241	NC_000023.10:g.(?_152990712)_(153650075_?)dup	ARHGAP4, ABCD1 +23 more	Duplication	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 816414	GRCh37/hg19 Xq28(chrX:153029046-153567369)x3	PLXNB3, L1CAM +17 more	Copy number gain	not provided	GPathogenic
Select item 816413	GRCh37/hg19 Xq28(chrX:153023149-153345755)x2	ARHGAP4, HCFC1 +12 more	Copy number gain	not provided	GLikely pathogenic
Select item 816411	GRCh37/hg19 Xq28(chrX:152516781-153368573)x2	SSR4, ZNF275 +26 more	Copy number gain	not provided	GPathogenic
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 786400	NM_002910.6(RENBP):c.629C>T (p.Ala210Val)	RENBP (A210V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785000	NM_002910.6(RENBP):c.1078-10G>T	RENBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 723213	NM_002910.6(RENBP):c.1166-4G>A	RENBP	Single nucleotide variant (intron variant)	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	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 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 685608	GRCh37/hg19 Xq28(chrX:153105400-153438105)x2	ARHGAP4, AVPR2 +8 more	Copy number gain	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 685402	GRCh37/hg19 Xq28(chrX:153154008-153624566)x2	ARHGAP4, AVPR2 +13 more	Copy number gain	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 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic

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