ClinVar for Gene (Select 3654) - 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	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 3110786	NM_001569.4(IRAK1):c.538A>C (p.Lys180Gln)	IRAK1 (K180Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110785	NM_001569.4(IRAK1):c.325C>T (p.Pro109Ser)	IRAK1, LOC130068849 (P109S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110784	NM_001569.4(IRAK1):c.2087G>A (p.Gly696Asp)	IRAK1 (G617D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110783	NM_001569.4(IRAK1):c.2074C>G (p.Leu692Val)	IRAK1 (L692V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110782	NM_001569.4(IRAK1):c.1681T>C (p.Trp561Arg)	IRAK1 (W482R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110781	NM_001569.4(IRAK1):c.1672G>A (p.Ala558Thr)	IRAK1 (A528T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110780	NM_001569.4(IRAK1):c.1642G>A (p.Val548Met)	IRAK1 (V469M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3062477	GRCh37/hg19 Xq28(chrX:153261202-153421839)	IRAK1, MECP2 +1 more	Copy number gain	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 3054486	NM_001569.4(IRAK1):c.909+9A>G	IRAK1	Single nucleotide variant (intron variant)	IRAK1-related disorder	GLikely benign
Select item 3053955	NM_001569.4(IRAK1):c.390G>C (p.Trp130Cys)	IRAK1 (W130C +1 more)	Single nucleotide variant (missense variant)	IRAK1-related disorder	GUncertain significance
Select item 3051065	NM_001569.4(IRAK1):c.338C>T (p.Thr113Ile)	IRAK1, LOC130068849 (T113I +1 more)	Single nucleotide variant (missense variant)	IRAK1-related disorder	GBenign
Select item 3047572	NM_001569.4(IRAK1):c.729+10G>A	IRAK1	Single nucleotide variant (intron variant)	IRAK1-related disorder	GLikely benign
Select item 3040466	NM_001569.4(IRAK1):c.1098C>T (p.Arg366=)	IRAK1	Single nucleotide variant (synonymous variant)	IRAK1-related disorder	GLikely benign
Select item 3038674	NM_001569.4(IRAK1):c.137-8C>A	IRAK1	Single nucleotide variant (synonymous variant +1 more)	IRAK1-related disorder	GLikely benign
Select item 3037138	NM_001569.4(IRAK1):c.1641C>T (p.Tyr547=)	IRAK1	Single nucleotide variant (synonymous variant)	IRAK1-related disorder	GLikely benign
Select item 3035914	NM_001569.4(IRAK1):c.1096C>T (p.Arg366Cys)	IRAK1 (R366C +1 more)	Single nucleotide variant (missense variant)	IRAK1-related disorder	GLikely benign
Select item 3032046	NM_001569.4(IRAK1):c.726G>A (p.Lys242=)	IRAK1	Single nucleotide variant (synonymous variant)	IRAK1-related disorder	GLikely benign
Select item 3031203	NM_001569.4(IRAK1):c.1195G>C (p.Gly399Arg)	IRAK1 (G399R +1 more)	Single nucleotide variant (missense variant)	IRAK1-related disorder	GUncertain significance
Select item 3029208	NM_001569.4(IRAK1):c.639G>A (p.Ser213=)	IRAK1	Single nucleotide variant (synonymous variant)	IRAK1-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 2688217	NM_001569.4(IRAK1):c.2080+91G>A	IRAK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688072	NM_001569.4(IRAK1):c.483C>T (p.Val161=)	IRAK1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688071	NM_001569.4(IRAK1):c.1595C>T (p.Ser532Leu)	IRAK1 (S453L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 2688060	NM_001569.4(IRAK1):c.587T>C (p.Phe196Ser)	IRAK1 (F196S +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
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 2661781	NM_001569.4(IRAK1):c.530C>T (p.Ser177Phe)	IRAK1 (S177F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661780	NM_001569.4(IRAK1):c.1128C>T (p.Ser376=)	IRAK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2661779	NM_001569.4(IRAK1):c.1855G>A (p.Gly619Ser)	IRAK1 (G540S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2619571	NM_001569.4(IRAK1):c.904T>A (p.Cys302Ser)	IRAK1 (C302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580350	GRCh37/hg19 Xq28(chrX:153283692-153298113)x1	IRAK1, MECP2	Copy number loss	Rett syndrome	GPathogenic
Select item 2580330	GRCh37/hg19 Xq28(chrX:153247464-153522710)x3	IRAK1, MECP2 +5 more	Copy number gain	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 2580294	GRCh37/hg19 Xq28(chrX:153217915-153618382)x2	EMD, FLNA +9 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2569111	NM_001569.4(IRAK1):c.1588G>A (p.Gly530Arg)	IRAK1 (G530R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557944	NM_001569.4(IRAK1):c.1823G>T (p.Cys608Phe)	IRAK1 (C578F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542608	NM_001569.4(IRAK1):c.395C>T (p.Pro132Leu)	IRAK1 (P132L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517610	NM_001569.4(IRAK1):c.494C>T (p.Ala165Val)	IRAK1 (A165V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514079	NM_001569.4(IRAK1):c.1798C>T (p.Arg600Cys)	IRAK1 (R521C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513081	NM_001569.4(IRAK1):c.1277C>T (p.Thr426Met)	IRAK1 (T452M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 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 2495770	NM_001569.4(IRAK1):c.2003A>G (p.Lys668Arg)	IRAK1 (K668R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486234	NM_001569.4(IRAK1):c.1294A>G (p.Lys432Glu)	IRAK1 (K432E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469385	NM_001569.4(IRAK1):c.476G>A (p.Gly159Asp)	IRAK1 (G159D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467386	NM_001569.4(IRAK1):c.421A>C (p.Thr141Pro)	IRAK1 (T141P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464943	NM_001569.4(IRAK1):c.2072C>T (p.Ser691Phe)	IRAK1 (S691F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425261	NC_000023.10:g.(?_153279389)_(153296228_?)del	IRAK1, MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2425259	NC_000023.10:g.(?_153195397)_(153642547_?)dup	IRAK1, TKTL1 +14 more	Duplication	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2424175	NC_000023.10:g.(?_153195397)_(153583460_?)dup	FLNA, HCFC1 +10 more	Duplication	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2424169	NC_000023.10:g.(?_153128118)_(153664237_?)dup	ARHGAP4, ATP6AP1 +18 more	Duplication	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	ABCD1, ARHGAP4 +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2423047	NC_000023.10:g.(?_152954030)_(153283591_?)dup	SRPK3, ABCD1 +14 more	Duplication	not provided	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	FAM3A, CMC4 +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422159	NC_000023.10:g.(?_152014869)_(153363122_?)dup	PNMA5, PNMA6A +31 more	Duplication	not provided	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	3-Methylglutaconic aciduria type 2 +8 more	GPathogenic
Select item 2412514	NM_001569.4(IRAK1):c.455C>G (p.Thr152Ser)	IRAK1 (T152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388437	NM_001569.4(IRAK1):c.1472T>C (p.Leu491Pro)	IRAK1 (L517P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388436	NM_001569.4(IRAK1):c.1463A>G (p.Glu488Gly)	IRAK1 (E488G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388435	NM_001569.4(IRAK1):c.1460C>G (p.Pro487Arg)	IRAK1 (P487R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388434	NM_001569.4(IRAK1):c.1459C>G (p.Pro487Ala)	IRAK1 (P513A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372780	NM_001569.4(IRAK1):c.844G>A (p.Gly282Ser)	IRAK1 (G308S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340011	NM_001569.4(IRAK1):c.524C>A (p.Ala175Asp)	IRAK1 (A175D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336403	NM_001569.4(IRAK1):c.1408G>A (p.Ala470Thr)	IRAK1 (A496T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242011	NM_001569.4(IRAK1):c.628C>T (p.His210Tyr)	IRAK1 (H236Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239348	NM_001569.4(IRAK1):c.1924G>A (p.Val642Met)	IRAK1 (V642M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2236080	NM_001569.4(IRAK1):c.26A>C (p.Glu9Ala)	IRAK1 (E9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207509	NM_001569.4(IRAK1):c.1417A>T (p.Ile473Phe)	IRAK1 (I473F +1 more)	Single nucleotide variant (missense variant +1 more)	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 1808427	GRCh37/hg19 Xq28(chrX:153282944-153681801)x3	ATP6AP1, DNASE1L1 +13 more	Copy number gain	not provided	GPathogenic
Select item 1802614	NM_001569.4(IRAK1):c.1138C>T (p.Arg380Trp)	IRAK1 (R380W +1 more)	Single nucleotide variant (missense variant)	Inguinal hernia +5 more	GUncertain significance
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	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 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	IDH3G, PDZD4 +200 more	Deletion	Immunodeficiency 33 +5 more	GPathogenic
Select item 1526880	GRCh37/hg19 Xq28(chrX:153277379-153317880)	IRAK1, MECP2	Copy number loss	not specified	GPathogenic
Select item 1526879	GRCh37/hg19 Xq28(chrX:153269534-153438781)	IRAK1, MECP2 +1 more	Copy number gain	not specified	GPathogenic
Select item 1526878	GRCh37/hg19 Xq28(chrX:153261390-153322230)	IRAK1, MECP2	Copy number loss	not specified	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, ARHGAP4 +20 more	Duplication	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 1342311	Single allele	ABCD1, AFF2 +337 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic

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