ClinVar for Gene (Select 114928) - 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 3352356	NM_001004051.4(GPRASP2):c.2152A>G (p.Asn718Asp)	ARMCX5-GPRASP2, GPRASP2 (N718D)	Single nucleotide variant (missense variant +1 more)	GPRASP2-related disorder	GLikely benign
Select item 3350499	NM_001004051.4(GPRASP2):c.264_299del (p.Glu89_Thr100del)	ARMCX5-GPRASP2, GPRASP2	Deletion (inframe_deletion +1 more)	GPRASP2-related disorder	GUncertain significance
Select item 3282481	NM_001004051.4(GPRASP2):c.2204A>G (p.Lys735Arg)	ARMCX5-GPRASP2, GPRASP2 (K735R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282480	NM_001004051.4(GPRASP2):c.176C>T (p.Ala59Val)	ARMCX5-GPRASP2, GPRASP2 (A59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282479	NM_001004051.4(GPRASP2):c.1694G>C (p.Arg565Pro)	ARMCX5-GPRASP2, GPRASP2 (R565P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282478	NM_001004051.4(GPRASP2):c.802T>C (p.Ser268Pro)	ARMCX5-GPRASP2, GPRASP2 (S268P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282477	NM_001004051.4(GPRASP2):c.211G>A (p.Gly71Arg)	ARMCX5-GPRASP2, GPRASP2 (G71R)	Single nucleotide variant (missense variant +1 more)	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 3234775	NM_001004051.4(GPRASP2):c.1703G>A (p.Arg568Gln)	ARMCX5-GPRASP2, GPRASP2 (R568Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3101931	NM_001004051.4(GPRASP2):c.788A>G (p.Gln263Arg)	ARMCX5-GPRASP2, GPRASP2 (Q263R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101930	NM_001004051.4(GPRASP2):c.70G>A (p.Ala24Thr)	ARMCX5-GPRASP2, GPRASP2 (A24T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101929	NM_001004051.4(GPRASP2):c.34G>C (p.Ala12Pro)	ARMCX5-GPRASP2, GPRASP2 (A12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101928	NM_001004051.4(GPRASP2):c.2420C>T (p.Pro807Leu)	ARMCX5-GPRASP2, GPRASP2 (P807L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101927	NM_001004051.4(GPRASP2):c.2419C>T (p.Pro807Ser)	ARMCX5-GPRASP2, GPRASP2 (P807S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101926	NM_001004051.4(GPRASP2):c.2237C>T (p.Ser746Phe)	ARMCX5-GPRASP2, GPRASP2 (S746F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101924	NM_001004051.4(GPRASP2):c.1814T>C (p.Met605Thr)	ARMCX5-GPRASP2, GPRASP2 (M605T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054389	NM_001004051.4(GPRASP2):c.*10C>A	ARMCX5-GPRASP2, GPRASP2	Single nucleotide variant (3 prime UTR variant +1 more)	GPRASP2-related disorder	GLikely benign
Select item 3053315	NM_001004051.4(GPRASP2):c.326G>A (p.Arg109His)	ARMCX5-GPRASP2, GPRASP2 (R109H)	Single nucleotide variant (missense variant +1 more)	GPRASP2-related disorder	GLikely benign
Select item 3050159	NM_001004051.4(GPRASP2):c.698C>T (p.Ala233Val)	ARMCX5-GPRASP2, GPRASP2 (A233V)	Single nucleotide variant (missense variant +1 more)	GPRASP2-related disorder	GBenign
Select item 3049800	NM_001004051.4(GPRASP2):c.585G>C (p.Trp195Cys)	ARMCX5-GPRASP2, GPRASP2 (W195C)	Single nucleotide variant (missense variant +1 more)	GPRASP2-related disorder	GLikely benign
Select item 3047223	NM_001004051.4(GPRASP2):c.264G>A (p.Thr88=)	ARMCX5-GPRASP2, GPRASP2	Single nucleotide variant (synonymous variant +1 more)	GPRASP2-related disorder	GLikely benign
Select item 3040660	NM_001004051.4(GPRASP2):c.504C>T (p.Gly168=)	ARMCX5-GPRASP2, GPRASP2	Single nucleotide variant (synonymous variant +1 more)	GPRASP2-related disorder	GLikely benign
Select item 3040462	NM_001004051.4(GPRASP2):c.1636C>T (p.Pro546Ser)	ARMCX5-GPRASP2, GPRASP2 (P546S)	Single nucleotide variant (missense variant +1 more)	GPRASP2-related disorder	GLikely benign
Select item 3039634	NM_001004051.4(GPRASP2):c.861G>A (p.Glu287=)	ARMCX5-GPRASP2, GPRASP2	Single nucleotide variant (synonymous variant +1 more)	GPRASP2-related disorder	GLikely benign
Select item 3033681	NM_001004051.4(GPRASP2):c.2193T>C (p.Asn731=)	ARMCX5-GPRASP2, GPRASP2	Single nucleotide variant (synonymous variant +1 more)	GPRASP2-related disorder	GLikely benign
Select item 3033083	NM_001199818.1(ARMCX5-GPRASP2):c.1509T>C (p.Phe503=)	ARMCX5-GPRASP2, GPRASP2	Single nucleotide variant (synonymous variant +1 more)	ARMCX5-GPRASP2-related disorder	GLikely benign
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 2661085	NM_001004051.4(GPRASP2):c.2484C>T (p.Asn828=)	ARMCX5-GPRASP2, GPRASP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661084	NM_001004051.4(GPRASP2):c.1597C>T (p.Leu533Phe)	ARMCX5-GPRASP2, GPRASP2 (L533F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2607531	NM_001004051.4(GPRASP2):c.244G>T (p.Gly82Cys)	ARMCX5-GPRASP2, GPRASP2 (G82C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588661	NM_001004051.4(GPRASP2):c.287C>T (p.Ala96Val)	ARMCX5-GPRASP2, GPRASP2 (A96V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549429	NM_001004051.4(GPRASP2):c.1258G>A (p.Gly420Arg)	ARMCX5-GPRASP2, GPRASP2 (G420R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513170	NM_001004051.4(GPRASP2):c.871C>T (p.Pro291Ser)	ARMCX5-GPRASP2, GPRASP2 (P291S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512215	NM_001004051.4(GPRASP2):c.2201C>T (p.Thr734Met)	ARMCX5-GPRASP2, GPRASP2 (T734M)	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 2490468	NM_001004051.4(GPRASP2):c.1660A>G (p.Thr554Ala)	ARMCX5-GPRASP2, GPRASP2 (T554A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476120	NM_001004051.4(GPRASP2):c.2173T>C (p.Ser725Pro)	ARMCX5-GPRASP2, GPRASP2 (S725P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472403	NM_001004051.4(GPRASP2):c.441G>T (p.Gln147His)	ARMCX5-GPRASP2, GPRASP2 (Q147H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464084	NM_001004051.4(GPRASP2):c.1232C>T (p.Pro411Leu)	ARMCX5-GPRASP2, GPRASP2 (P411L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394186	NM_001004051.4(GPRASP2):c.2354A>G (p.Gln785Arg)	ARMCX5-GPRASP2, GPRASP2 (Q785R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378413	NM_001004051.4(GPRASP2):c.140G>C (p.Gly47Ala)	ARMCX5-GPRASP2, GPRASP2 (G47A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355678	NM_001004051.4(GPRASP2):c.1984A>G (p.Met662Val)	ARMCX5-GPRASP2, GPRASP2 (M662V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354298	NM_001004051.4(GPRASP2):c.916C>T (p.Pro306Ser)	ARMCX5-GPRASP2, GPRASP2 (P306S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348791	NM_001004051.4(GPRASP2):c.2396T>C (p.Ile799Thr)	ARMCX5-GPRASP2, GPRASP2 (I799T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337086	NM_001004051.4(GPRASP2):c.2012A>C (p.Asn671Thr)	ARMCX5-GPRASP2, GPRASP2 (N671T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320864	NM_001004051.4(GPRASP2):c.988T>G (p.Ser330Ala)	ARMCX5-GPRASP2, GPRASP2 (S330A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310947	NM_001004051.4(GPRASP2):c.1298C>T (p.Ala433Val)	ARMCX5-GPRASP2, GPRASP2 (A433V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290231	NM_001004051.4(GPRASP2):c.296A>G (p.Lys99Arg)	ARMCX5-GPRASP2, GPRASP2 (K99R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269829	NM_001004051.4(GPRASP2):c.2128A>G (p.Ile710Val)	ARMCX5-GPRASP2, GPRASP2 (I710V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213119	NM_001004051.4(GPRASP2):c.63G>C (p.Glu21Asp)	ARMCX5-GPRASP2, GPRASP2 (E21D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212561	NM_001004051.4(GPRASP2):c.905A>G (p.Asn302Ser)	ARMCX5-GPRASP2, GPRASP2 (N302S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208921	NM_001004051.4(GPRASP2):c.1877C>T (p.Ala626Val)	ARMCX5-GPRASP2, GPRASP2 (A626V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208134	NM_001004051.4(GPRASP2):c.1264G>A (p.Ala422Thr)	ARMCX5-GPRASP2, GPRASP2 (A422T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2204615	NM_001004051.4(GPRASP2):c.307A>T (p.Arg103Trp)	ARMCX5-GPRASP2, GPRASP2 (R103W)	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 1806834	NM_001004051.4(GPRASP2):c.2363G>T (p.Ser788Ile)	ARMCX5-GPRASP2, GPRASP2 (S788I)	Single nucleotide variant (missense variant +1 more)	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome	GLikely pathogenic
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 1526833	GRCh37/hg19 Xq22.1-22.2(chrX:101331999-102771372)	ARMCX5, ARMCX5-GPRASP2 +21 more	Copy number loss	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 1340489	GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3	NXF2B, SYTL4 +38 more	Copy number gain	not provided	GUncertain significance
Select item 1281192	NM_001004051.4(GPRASP2):c.*125A>G	GPRASP2, ARMCX5-GPRASP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1280293	NM_001004051.4(GPRASP2):c.-35G>A	ARMCX5-GPRASP2, GPRASP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1226940	NM_001004051.4(GPRASP2):c.-366A>G	ARMCX5-GPRASP2, GPRASP2	Single nucleotide variant (5 prime UTR variant +1 more)	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 1183084	NM_001004051.4(GPRASP2):c.519A>C (p.Arg173Ser)	ARMCX5-GPRASP2, GPRASP2 (R173S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1030276	NM_001004051.4(GPRASP2):c.1295G>A (p.Gly432Glu)	ARMCX5-GPRASP2, GPRASP2 (G432E)	Single nucleotide variant (missense variant +1 more)	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome	GUncertain significance
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 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 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 807793	NM_001004051.4(GPRASP2):c.1019T>C (p.Val340Ala)	GPRASP2, ARMCX5-GPRASP2 (V340A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 787162	NM_001004051.4(GPRASP2):c.382_393del (p.Ala128_Gln131del)	ARMCX5-GPRASP2, GPRASP2	Deletion (inframe_deletion +1 more)	not provided	GBenign
Select item 781554	NM_001004051.4(GPRASP2):c.1080T>C (p.Thr360=)	ARMCX5-GPRASP2, GPRASP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 781553	NM_001004051.4(GPRASP2):c.865A>G (p.Ser289Gly)	ARMCX5-GPRASP2, GPRASP2 (S289G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 780079	NM_001004051.4(GPRASP2):c.2163C>T (p.Ser721=)	ARMCX5-GPRASP2, GPRASP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 754282	NM_001004051.4(GPRASP2):c.1263C>T (p.Ser421=)	ARMCX5-GPRASP2, GPRASP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 732706	NM_001004051.4(GPRASP2):c.2160G>A (p.Met720Ile)	ARMCX5-GPRASP2, GPRASP2 (M720I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 691846	GRCh37/hg19 Xq22.1-22.2(chrX:100866604-103411980)x1	ARMCX2, ARMCX3 +40 more	Copy number loss	Early Onset Neurological Disease Trait	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 686068	GRCh37/hg19 Xq22.1(chrX:100868897-102422345)x1	ARMCX2, ARMCX3 +19 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 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic

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