ClinVar for Gene (Select 26280) - 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 3325512	NM_031274.5(TEX13A):c.428G>A (p.Arg143Lys)	IL1RAPL2, TEX13A (R143K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325511	NM_031274.5(TEX13A):c.346G>C (p.Glu116Gln)	IL1RAPL2, TEX13A (E116Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325510	NM_031274.5(TEX13A):c.988C>T (p.Pro330Ser)	IL1RAPL2, TEX13A (P330S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285817	NM_017416.2(IL1RAPL2):c.1279G>A (p.Ala427Thr)	IL1RAPL2 (A427T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285816	NM_017416.2(IL1RAPL2):c.1040G>A (p.Arg347His)	IL1RAPL2 (R347H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285815	NM_017416.2(IL1RAPL2):c.1417G>T (p.Val473Leu)	IL1RAPL2 (V473L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285814	NM_017416.2(IL1RAPL2):c.622G>T (p.Asp208Tyr)	IL1RAPL2 (D208Y)	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 3176272	NM_031274.5(TEX13A):c.934T>C (p.Ser312Pro)	IL1RAPL2, TEX13A (S312P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3176271	NM_031274.5(TEX13A):c.863C>T (p.Ser288Leu)	IL1RAPL2, TEX13A (S288L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176270	NM_031274.5(TEX13A):c.496G>A (p.Gly166Arg)	IL1RAPL2, TEX13A (G166R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176269	NM_031274.5(TEX13A):c.356A>G (p.Glu119Gly)	IL1RAPL2, TEX13A (E119G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176268	NM_031274.5(TEX13A):c.337A>C (p.Lys113Gln)	IL1RAPL2, TEX13A (K113Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176267	NM_031274.5(TEX13A):c.230G>A (p.Arg77His)	IL1RAPL2, TEX13A (R77H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176266	NM_031274.5(TEX13A):c.14C>G (p.Pro5Arg)	IL1RAPL2, TEX13A (P5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176265	NM_031274.5(TEX13A):c.1160C>T (p.Ala387Val)	IL1RAPL2, TEX13A (A387V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176264	NM_031274.5(TEX13A):c.1108A>G (p.Arg370Gly)	IL1RAPL2, TEX13A (R370G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109262	NM_017416.2(IL1RAPL2):c.742A>G (p.Asn248Asp)	IL1RAPL2 (N248D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109261	NM_017416.2(IL1RAPL2):c.585A>C (p.Lys195Asn)	IL1RAPL2 (K195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109260	NM_017416.2(IL1RAPL2):c.1906G>C (p.Gly636Arg)	IL1RAPL2 (G636R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109259	NM_017416.2(IL1RAPL2):c.1577G>A (p.Arg526His)	IL1RAPL2 (R526H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109258	NM_017416.2(IL1RAPL2):c.1556A>G (p.Gln519Arg)	IL1RAPL2 (Q519R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109257	NM_017416.2(IL1RAPL2):c.1488G>T (p.Met496Ile)	IL1RAPL2 (M496I)	Single nucleotide variant (missense variant)	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 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685000	GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3	ARL13A, ARMCX1 +80 more	Copy number gain	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 2661122	NM_031274.5(TEX13A):c.159A>C (p.Ile53=)	IL1RAPL2, TEX13A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661121	NM_017416.2(IL1RAPL2):c.357-14311C>G	IL1RAPL2, TEX13A (E229D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2661120	NM_031274.5(TEX13A):c.810C>G (p.Val270=)	IL1RAPL2, TEX13A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661119	NM_017416.2(IL1RAPL2):c.357-14539TGAGTA[2]	IL1RAPL2, TEX13A	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2621475	NM_017416.2(IL1RAPL2):c.1879G>A (p.Ala627Thr)	IL1RAPL2 (A627T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2607859	NM_031274.5(TEX13A):c.493G>T (p.Ala165Ser)	IL1RAPL2, TEX13A (A165S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2572192	NM_017416.2(IL1RAPL2):c.1637_1638del (p.Asn545_Ser546insTer)	IL1RAPL2	Deletion (nonsense)	not provided	GUncertain significance
Select item 2548493	NM_031274.5(TEX13A):c.1169T>C (p.Phe390Ser)	IL1RAPL2, TEX13A (F390S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536063	NM_017416.2(IL1RAPL2):c.711C>A (p.Asp237Glu)	IL1RAPL2 (D237E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528105	NM_017416.2(IL1RAPL2):c.50C>G (p.Thr17Arg)	IL1RAPL2 (T17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520714	NM_031274.5(TEX13A):c.482G>A (p.Gly161Asp)	IL1RAPL2, TEX13A (G161D)	Single nucleotide variant (missense variant +1 more)	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 2484758	NM_017416.2(IL1RAPL2):c.1201G>C (p.Glu401Gln)	IL1RAPL2 (E401Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476377	NM_017416.2(IL1RAPL2):c.1345G>T (p.Asp449Tyr)	IL1RAPL2 (D449Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459439	NM_017416.2(IL1RAPL2):c.1789G>A (p.Val597Met)	IL1RAPL2 (V597M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399242	NM_017416.2(IL1RAPL2):c.65T>C (p.Val22Ala)	IL1RAPL2 (V22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375467	NM_017416.2(IL1RAPL2):c.1090A>G (p.Ile364Val)	IL1RAPL2 (I364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356240	NM_017416.2(IL1RAPL2):c.1916A>G (p.His639Arg)	IL1RAPL2 (H639R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316489	NM_017416.2(IL1RAPL2):c.561G>A (p.Met187Ile)	IL1RAPL2 (M187I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310764	NM_031274.5(TEX13A):c.1050C>A (p.His350Gln)	IL1RAPL2, TEX13A (H350Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2305475	NM_031274.5(TEX13A):c.506G>A (p.Cys169Tyr)	IL1RAPL2, TEX13A (C169Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223403	NM_017416.2(IL1RAPL2):c.1153T>C (p.Phe385Leu)	IL1RAPL2 (F385L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208312	NM_017416.2(IL1RAPL2):c.16C>T (p.Leu6Phe)	IL1RAPL2 (L6F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2205404	NM_017416.2(IL1RAPL2):c.1654T>A (p.Leu552Ile)	IL1RAPL2 (L552I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205223	NM_017416.2(IL1RAPL2):c.1789G>T (p.Val597Leu)	IL1RAPL2 (V597L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203855	NM_031274.5(TEX13A):c.22C>A (p.Pro8Thr)	IL1RAPL2, TEX13A (P8T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
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 1526838	GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)	ACSL4, ALG13 +45 more	Copy number gain	not specified	GPathogenic
Select item 1526837	GRCh37/hg19 Xq22.2-22.3(chrX:103046942-104214535)	ESX1, FAM199X +8 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526834	GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339)	ACSL4, AGTR2 +77 more	Copy number gain	not specified	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 1328107	GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2	ACSL4, ALG13 +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 1287848	NM_017416.2(IL1RAPL2):c.1059T>C (p.Tyr353=)	IL1RAPL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1209858	GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1	BEX3, BEX4 +110 more	Copy number loss	Xq21.32q23 deletion	GPathogenic
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 980316	GRCh37/hg19 Xq22.3(chrX:104014566-104293233)x2	IL1RAPL2	Copy number gain	not provided	GUncertain significance
Select item 980313	GRCh37/hg19 Xq22.3(chrX:104617127-104730331)x0	IL1RAPL2	Copy number loss	not provided	GUncertain significance
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	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 816377	GRCh37/hg19 Xq22.3(chrX:104728884-105652106)x0	SERPINA7, PWWP3B +2 more	Copy number loss	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 744534	NM_017416.2(IL1RAPL2):c.1144T>C (p.Leu382=)	IL1RAPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727821	NM_017416.2(IL1RAPL2):c.698-9C>T	IL1RAPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 726619	NM_017416.2(IL1RAPL2):c.317C>T (p.Ala106Val)	IL1RAPL2 (A106V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 691849	GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1	FAM199X, GPRASP1 +51 more	Copy number loss	Early Onset Neurological Disease Trait	GPathogenic
Select item 691848	GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1	BEX1, BEX2 +27 more	Copy number loss	Early Onset Neurological Disease Trait	GPathogenic
Select item 691847	GRCh37/hg19 Xq22.1-22.3(chrX:102436725-105520605)x1	BEX2, BEX3 +25 more	Copy number loss	Early Onset Neurological Disease Trait	GUncertain significance
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 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	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 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 627649	NM_001012755.5(SLC25A53):c.-22690_-32+1371dup	FAM199X, IL1RAPL2 +2 more	Duplication	9q34 microduplication syndrome	GUncertain significance
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564881	GRCh37/hg19 Xq22.3(chrX:104552572-104723419)x0	IL1RAPL2	Copy number loss	not provided	GUncertain significance
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	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

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