ClinVar for Gene (Select 9949) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370797	NM_015365.3(AMMECR1):c.503G>A (p.Arg168Gln)	AMMECR1 (R168Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3360793	NM_015365.3(AMMECR1):c.943CAT[2] (p.His317del)	AMMECR1 (H194del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3292993	NM_015365.3(AMMECR1):c.58G>T (p.Gly20Cys)	AMMECR1 (G20C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292983	NM_015365.3(AMMECR1):c.304G>A (p.Ala102Thr)	AMMECR1 (A102T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292972	NM_015365.3(AMMECR1):c.19G>T (p.Gly7Trp)	AMMECR1 (G7W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3252717	NM_015365.3(AMMECR1):c.613A>T (p.Met205Leu)	AMMECR1 (M168L +2 more)	Single nucleotide variant (missense variant)	not provided	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 3116027	NM_015365.3(AMMECR1):c.931G>A (p.Ala311Thr)	AMMECR1 (A274T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066002	NM_015365.3(AMMECR1):c.888-610_*1821del	AMMECR1	Deletion (splice acceptor variant)	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GLikely pathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3054342	NM_015365.3(AMMECR1):c.283A>T (p.Thr95Ser)	AMMECR1 (T95S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3034302	NM_015365.3(AMMECR1):c.356C>G (p.Pro119Arg)	AMMECR1 (P119R)	Single nucleotide variant (missense variant +1 more)	AMMECR1-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 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661193	NM_001396022.1(GNG5B):c.30G>T (p.Thr10=)	AMMECR1, GNG5B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661192	NM_015365.3(AMMECR1):c.220C>G (p.Gln74Glu)	AMMECR1, LOC130068555 (Q74E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2661191	NM_015365.3(AMMECR1):c.402C>T (p.Cys134=)	AMMECR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661190	NM_015365.3(AMMECR1):c.957A>G (p.Gln319=)	AMMECR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661189	NM_015365.3(AMMECR1):c.*3C>A	AMMECR1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2629107	NM_015365.3(AMMECR1):c.305C>T (p.Ala102Val)	AMMECR1 (A102V)	Single nucleotide variant (missense variant +1 more)	AMMECR1-related disorder	GUncertain significance
Select item 2582539	NM_015365.3(AMMECR1):c.887+2T>A	AMMECR1	Single nucleotide variant (splice donor variant)	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GLikely pathogenic
Select item 2579928	NM_015365.3(AMMECR1):c.23T>A (p.Val8Glu)	AMMECR1 (V8E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579102	NM_015365.3(AMMECR1):c.528_535delinsGTAATC (p.Ile176_Phe179delinsMetTer)	AMMECR1	Indel (nonsense +1 more)	not provided	GUncertain significance
Select item 2569333	NM_015365.3(AMMECR1):c.322C>T (p.Pro108Ser)	AMMECR1 (P108S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569332	NM_015365.3(AMMECR1):c.316T>C (p.Ser106Pro)	AMMECR1 (S106P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569331	NM_015365.3(AMMECR1):c.250G>T (p.Ala84Ser)	AMMECR1, LOC130068555 (A84S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2569330	NM_015365.3(AMMECR1):c.178A>G (p.Thr60Ala)	AMMECR1 (T60A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569329	NM_015365.3(AMMECR1):c.114G>C (p.Gln38His)	AMMECR1 (Q38H)	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 2501432	NM_015365.3(AMMECR1):c.202T>C (p.Cys68Arg)	AMMECR1 (C68R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500484	NM_015365.3(AMMECR1):c.757G>A (p.Ala253Thr)	AMMECR1 (A130T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2316852	NM_015365.3(AMMECR1):c.313T>G (p.Ser105Ala)	AMMECR1 (S105A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287262	NM_015365.3(AMMECR1):c.238G>C (p.Gly80Arg)	AMMECR1, LOC130068555 (G80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251613	NM_015365.3(AMMECR1):c.53C>A (p.Pro18His)	AMMECR1 (P18H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230952	NM_015365.3(AMMECR1):c.220C>A (p.Gln74Lys)	AMMECR1, LOC130068555 (Q74K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809431	GRCh37/hg19 Xq23(chrX:108922296-111549785)x1	ACSL4, ALG13 +10 more	Copy number loss	not provided	GPathogenic
Select item 1809029	GRCh37/hg19 Xq23(chrX:109622178-110242737)x3	AMMECR1, CHRDL1 +2 more	Copy number gain	not provided	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 1808432	GRCh37/hg19 Xq23(chrX:109520211-109929010)x3	AMMECR1, CHRDL1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1801042	NM_015365.3(AMMECR1):c.898G>T (p.Glu300Ter)	AMMECR1 (E177* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1710539	NM_015365.3(AMMECR1):c.127G>A (p.Glu43Lys)	AMMECR1 (E43K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1678616	NM_015365.3(AMMECR1):c.799C>T (p.His267Tyr)	AMMECR1 (H144Y +2 more)	Single nucleotide variant (missense variant)	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GUncertain significance
Select item 1678555	NM_015365.3(AMMECR1):c.791G>T (p.Gly264Val)	AMMECR1 (G141V +2 more)	Single nucleotide variant (missense variant)	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GUncertain significance
Select item 1526842	GRCh37/hg19 Xq23(chrX:109084747-109828826)	AMMECR1, RTL9 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1526838	GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)	ACSL4, ALG13 +45 more	Copy number gain	not specified	GPathogenic
Select item 1526834	GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339)	ACSL4, AGTR2 +77 more	Copy number gain	not specified	GPathogenic
Select item 1341255	GRCh37/hg19 Xq23(chrX:109522315-109929010)x3	AMMECR1, CHRDL1 +1 more	Copy number gain	not provided	GUncertain significance
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 1329532	NM_015365.3(AMMECR1):c.86C>T (p.Ser29Phe)	AMMECR1 (S29F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1312746	NM_015365.3(AMMECR1):c.526A>G (p.Ile176Val)	AMMECR1 (I176V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1287673	NM_015365.3(AMMECR1):c.887+43T>A	AMMECR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285799	NM_015365.3(AMMECR1):c.887+44G>T	AMMECR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263366	NM_015365.3(AMMECR1):c.790+160C>T	AMMECR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254296	NM_015365.3(AMMECR1):c.794G>A (p.Trp265Ter)	AMMECR1 (W142* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 1180512	GRCh37/hg19 Xq22.3-23(chrX:108168780-109606201)x0	ACSL4, AMMECR1 +4 more	Copy number loss	not provided	GPathogenic
Select item 998005	NM_015365.3(AMMECR1):c.805C>T (p.Gln269Ter)	AMMECR1 (Q146* +2 more)	Single nucleotide variant (nonsense)	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GLikely pathogenic
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 817146	NM_015365.3(AMMECR1):c.433_448del (p.Tyr145fs)	AMMECR1 (Y22fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 817076	NM_015365.3(AMMECR1):c.454dup (p.Arg152fs)	AMMECR1 (R152fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 816379	GRCh37/hg19 Xq23(chrX:109418639-110180983)x1	TMEM164, CHRDL1 +2 more	Copy number loss	not provided	GPathogenic
Select item 816378	GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1	ACSL4, AMMECR1 +28 more	Copy number loss	not provided	GLikely pathogenic
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 779292	NM_015365.3(AMMECR1):c.960T>C (p.Asn320=)	AMMECR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 763992	NM_015365.3(AMMECR1):c.861A>G (p.Glu287=)	AMMECR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759156	NM_015365.3(AMMECR1):c.18C>T (p.Cys6=)	AMMECR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 756504	NM_015365.3(AMMECR1):c.12T>C (p.Gly4=)	AMMECR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 746580	NM_015365.3(AMMECR1):c.750A>G (p.Lys250=)	AMMECR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721778	NM_015365.3(AMMECR1):c.822A>G (p.Leu274=)	AMMECR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 686620	GRCh37/hg19 Xq23(chrX:109275164-109662016)x3	AMMECR1, TMEM164	Copy number gain	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 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 599546	NM_015365.3(AMMECR1):c.454del (p.Arg152fs)	AMMECR1 (R152fs +1 more)	Deletion (frameshift variant)	Short stature	GPathogenic
Select item 592175	t(X;9)(q23;q12)dn	AMMECR1	Translocation	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GLikely pathogenic
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 560072	Single allele	AMMECR1, TMEM164	Duplication	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GUncertain significance
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic

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