FBLN7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 152806	GRCh38/hg38 2q13-14.1(chr2:110577566-112331529)x3	ACOXL, ACOXL-AS1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 144476	GRCh38/hg38 2q13-14.1(chr2:110611255-112308202)x1	ACOXL, ACOXL-AS1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 154032	GRCh38/hg38 2q13-14.1(chr2:110631042-112354279)x1	LOC129934578, LOC129934579 +50 more	Copy number loss	See cases	GUncertain significance
Select item 59323	GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3	ACOXL, ACOXL-AS1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 57565	GRCh38/hg38 2q13-14.1(chr2:110638242-112244051)x1	ACOXL, ACOXL-AS1 +45 more	Copy number loss	See cases	GUncertain significance
Select item 57564	GRCh38/hg38 2q13-14.1(chr2:110638242-112317901)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 223093	NC_000002.12:g.(?_110649261)_(112345017_?)del	ACOXL, ACOXL-AS1 +50 more	Deletion	not provided	GLikely pathogenic
Select item 148494	GRCh38/hg38 2q13-14.1(chr2:110649261-112331529)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 148389	GRCh38/hg38 2q13-14.1(chr2:110649261-112379067)x3	ACOXL, ACOXL-AS1 +51 more	Copy number gain	See cases	GLikely benign
Select item 59324	GRCh38/hg38 2q13-14.1(chr2:110684353-112308343)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 161046	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 160844	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GUncertain significance
Select item 151397	GRCh38/hg38 2q13-14.1(chr2:110684553-112344958)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 32080	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GUncertain significance
Select item 154416	GRCh38/hg38 2q13-14.1(chr2:110684598-112308164)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 2539978	NM_153214.3(FBLN7):c.8C>T (p.Pro3Leu)	FBLN7 (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611311	NM_153214.3(FBLN7):c.35T>C (p.Leu12Pro)	FBLN7 (L12P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274563	NM_153214.3(FBLN7):c.107C>T (p.Ala36Val)	FBLN7 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093352	NM_153214.3(FBLN7):c.161G>A (p.Gly54Asp)	FBLN7 (G54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258744	NM_153214.3(FBLN7):c.221C>A (p.Pro74Gln)	FBLN7 (P74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387901	NM_153214.3(FBLN7):c.229C>T (p.Leu77Phe)	FBLN7 (L77F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651270	NM_153214.3(FBLN7):c.246G>A (p.Pro82=)	FBLN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3093353	NM_153214.3(FBLN7):c.341T>A (p.Val114Asp)	FBLN7 (V114D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093355	NM_153214.3(FBLN7):c.508C>T (p.Arg170Cys)	FBLN7 (R170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093356	NM_153214.3(FBLN7):c.538C>G (p.Pro180Ala)	FBLN7 (P180A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495656	NM_153214.3(FBLN7):c.543G>C (p.Glu181Asp)	FBLN7 (E181D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316347	NM_153214.3(FBLN7):c.575G>T (p.Arg192Leu)	FBLN7 (R192L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093357	NM_153214.3(FBLN7):c.590C>A (p.Ala197Glu)	FBLN7 (A197E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651271	NM_153214.3(FBLN7):c.672C>T (p.Asp224=)	FBLN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547652	NM_153214.3(FBLN7):c.725A>G (p.His242Arg)	FBLN7 (H196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599932	NM_153214.3(FBLN7):c.727G>A (p.Ala243Thr)	FBLN7 (A197T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2276792	NM_153214.3(FBLN7):c.743C>T (p.Pro248Leu)	FBLN7 (P248L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093358	NM_153214.3(FBLN7):c.761C>T (p.Thr254Ile)	FBLN7 (T254I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093359	NM_153214.3(FBLN7):c.793G>A (p.Gly265Arg)	FBLN7 (G265R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459780	NM_153214.3(FBLN7):c.836C>T (p.Pro279Leu)	FBLN7 (P279L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341525	NM_153214.3(FBLN7):c.862A>G (p.Ile288Val)	FBLN7 (I242V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093360	NM_153214.3(FBLN7):c.872G>A (p.Gly291Asp)	FBLN7 (G245D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603898	NM_153214.3(FBLN7):c.890T>C (p.Val297Ala)	FBLN7 (V251A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458119	NM_153214.3(FBLN7):c.907G>A (p.Glu303Lys)	FBLN7 (E257K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333001	NM_153214.3(FBLN7):c.913A>C (p.Ser305Arg)	FBLN7 (S259R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222921	NM_153214.3(FBLN7):c.959G>A (p.Arg320Gln)	FBLN7 (R274Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217136	NM_153214.3(FBLN7):c.1090G>A (p.Gly364Ser)	FBLN7 (G364S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301453	NM_153214.3(FBLN7):c.1106A>G (p.Asn369Ser)	FBLN7 (N323S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345322	NM_153214.3(FBLN7):c.1139G>C (p.Ser380Thr)	FBLN7 (S380T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093351	NM_153214.3(FBLN7):c.1220C>T (p.Thr407Met)	FBLN7 (T361M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651272	NM_153214.3(FBLN7):c.1278C>T (p.His426=)	FBLN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412269	NM_032494.3(ZC3H8):c.869G>A (p.Cys290Tyr)	FBLN7, ZC3H8 (C290Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407235	NM_032494.3(ZC3H8):c.752T>C (p.Phe251Ser)	FBLN7, ZC3H8 (F251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226844	NM_032494.3(ZC3H8):c.692A>G (p.Gln231Arg)	FBLN7, ZC3H8 (Q231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525997	NM_032494.3(ZC3H8):c.572G>A (p.Arg191His)	FBLN7, ZC3H8 (R191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238014	NM_032494.3(ZC3H8):c.571C>T (p.Arg191Cys)	FBLN7, ZC3H8 (R191C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557500	NM_032494.3(ZC3H8):c.506A>G (p.Asp169Gly)	FBLN7, ZC3H8 (D169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786486	NM_032494.3(ZC3H8):c.491G>A (p.Gly164Asp)	FBLN7, ZC3H8 (G164D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2366811	NM_032494.3(ZC3H8):c.218A>G (p.Tyr73Cys)	FBLN7, ZC3H8 (Y73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780355	NM_032494.3(ZC3H8):c.194A>G (p.His65Arg)	FBLN7, ZC3H8 (H65R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3148895	GRCh37/hg19 2q13(chr2:111397950-113111856)x1	ACOXL, ANAPC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062558	GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1	ACOXL, ANAPC1 +27 more	Copy number loss	not specified	GPathogenic
Select item 2684642	GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1	ACOXL, ANAPC1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2652124	GRCh37/hg19 2q13(chr2:110873265-113090065)x1	ACOXL, ANAPC1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2580318	GRCh37/hg19 2q13(chr2:111335152-113127204)x1	ACOXL, ANAPC1 +9 more	Copy number loss	2q13 microdeletion syndrome	GPathogenic
Select item 2578904	GRCh37/hg19 2q13(chr2:111395541-113090065)x1	ACOXL, ANAPC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2498870	GRCh37/hg19 2q13(chr2:111368292-113191030)x1	ACOXL, ANAPC1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 1808718	GRCh37/hg19 2q13(chr2:111366256-113127751)x1	ACOXL, ANAPC1 +8 more	Copy number loss	not provided	GPathogenic
Select item 1808680	GRCh37/hg19 2q13(chr2:111365996-113111856)x3	ACOXL, ANAPC1 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808613	GRCh37/hg19 2q13(chr2:111397786-113111856)x3	ACOXL, ANAPC1 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808110	GRCh37/hg19 2q13(chr2:112632313-113015512)x3	ANAPC1, FBLN7 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807763	GRCh37/hg19 2q13(chr2:111369264-113142794)x1	ACOXL, ANAPC1 +8 more	Copy number loss	not provided	GPathogenic
Select item 1705942	GRCh37/hg19 2q13(chr2:111365995-113199850)x3	ACOXL, ANAPC1 +8 more	Copy number gain	Anemia, unspecified	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339793	GRCh37/hg19 2q13(chr2:111409518-113127751)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	Gnot provided
Select item 983183	GRCh37/hg19 2q13(chr2:111368818-113065741)x3	ZC3H6, ANAPC1 +7 more	Copy number gain	See cases	GLikely pathogenic
Select item 980472	GRCh37/hg19 2q13(chr2:112595631-112949518)x3	FBLN7, MERTK +2 more	Copy number gain	not provided	GUncertain significance
Select item 980471	GRCh37/hg19 2q13(chr2:112606791-112911923)x3	MERTK, TMEM87B +2 more	Copy number gain	not provided	GUncertain significance
Select item 980469	GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1	ANAPC1, SULT1C4 +28 more	Copy number loss	not provided	GPathogenic
Select item 688671	GRCh37/hg19 2q13(chr2:111388619-113137529)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 687786	GRCh37/hg19 2q13(chr2:111388619-113199850)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 686865	GRCh37/hg19 2q13(chr2:111382460-113115979)x3	ACOXL, ANAPC1 +7 more	Copy number gain	not provided	GPathogenic
Select item 686485	GRCh37/hg19 2q13(chr2:111382460-113137975)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 625831	GRCh37/hg19 2q13(chr2:111395603-113251000)	ACOXL, ANAPC1 +9 more	Copy number loss	not provided	GLikely pathogenic
Select item 625548	GRCh37/hg19 2q13(chr2:111395351-113102594)	ACOXL, ANAPC1 +7 more	Copy number loss	not provided	GPathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562655	GRCh37/hg19 2q13(chr2:110980294-113137529)x1	ACOXL, ANAPC1 +10 more	Copy number loss	not provided	GPathogenic
Select item 562650	GRCh37/hg19 2q13(chr2:111366255-113111856)x1	MERTK, TMEM87B +7 more	Copy number loss	not provided	GPathogenic
Select item 562649	GRCh37/hg19 2q13(chr2:111388618-113127751)x3	MERTK, FBLN7 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443191	GRCh37/hg19 2q13(chr2:111388618-113111870)x1	ACOXL, ANAPC1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442807	GRCh37/hg19 2q13(chr2:111388618-113115979)x1	ACOXL, ANAPC1 +7 more	Copy number loss	See cases	GLikely benign
Select item 442732	GRCh37/hg19 2q13(chr2:111400705-113111856)x1	ACOXL, ANAPC1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 441652	GRCh37/hg19 2q13(chr2:111388618-113111856)x1	ACOXL, ANAPC1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 441607	GRCh37/hg19 2q13(chr2:111388618-113137529)x1	ACOXL, ANAPC1 +8 more	Copy number loss	See cases	GUncertain significance
Select item 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 253541	GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	TMEM87B, IL37 +40 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic

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