ClinVar for Gene (Select 2192) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376571	NM_006486.3(FBLN1):c.1949G>A (p.Arg650His)	FBLN1 (R650H)	Single nucleotide variant (missense variant)	Synpolydactyly type 2	GUncertain significance
Select item 3355714	NM_006486.3(FBLN1):c.769G>A (p.Asp257Asn)	FBLN1 (D257N)	Single nucleotide variant (missense variant)	FBLN1-related disorder	GUncertain significance
Select item 3349485	NM_006486.3(FBLN1):c.1771G>A (p.Asp591Asn)	FBLN1 (D591N)	Single nucleotide variant (missense variant)	FBLN1-related disorder	GLikely benign
Select item 3344164	NM_006486.3(FBLN1):c.1776C>T (p.Pro592=)	FBLN1	Single nucleotide variant (synonymous variant)	FBLN1-related disorder	GLikely benign
Select item 3339034	NM_006486.3(FBLN1):c.293A>T (p.Asn98Ile)	FBLN1 (N98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277919	NM_006486.3(FBLN1):c.1309A>G (p.Arg437Gly)	FBLN1 (R437G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277917	NM_006486.3(FBLN1):c.1235G>A (p.Gly412Asp)	FBLN1 (G412D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277916	NM_006486.3(FBLN1):c.905C>T (p.Ala302Val)	FBLN1 (A302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277915	NM_006486.3(FBLN1):c.620T>C (p.Leu207Pro)	FBLN1 (L207P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257167	NM_006486.3(FBLN1):c.483G>A (p.Thr161=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3248117	NC_000022.10:g.(?_45958792)_(46971995_?)del	GTSE1, MIRLET7A3 +11 more	Deletion	not provided	GPathogenic
Select item 3234533	NM_006486.3(FBLN1):c.1698-9578G>A	FBLN1 (E583K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3093310	NM_006486.3(FBLN1):c.686T>C (p.Leu229Pro)	FBLN1 (L229P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093309	NM_006486.3(FBLN1):c.578C>T (p.Thr193Met)	FBLN1 (T193M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093308	NM_006486.3(FBLN1):c.1943T>C (p.Ile648Thr)	FBLN1 (I648T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093307	NM_006486.3(FBLN1):c.1910C>T (p.Thr637Met)	FBLN1 (T637M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093306	NM_006486.3(FBLN1):c.1799T>C (p.Val600Ala)	FBLN1 (V600A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093304	NM_006486.3(FBLN1):c.170A>C (p.Glu57Ala)	FBLN1 (E57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093303	NM_006486.3(FBLN1):c.1682G>A (p.Arg561His)	FBLN1 (R561H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093302	NM_006486.3(FBLN1):c.1396C>T (p.Arg466Trp)	FBLN1 (R466W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093301	NM_006486.3(FBLN1):c.1058G>A (p.Arg353His)	FBLN1 (R353H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062463	GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1	ARHGAP8, ATXN10 +24 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 3051729	NM_006486.3(FBLN1):c.1080C>T (p.Cys360=)	FBLN1	Single nucleotide variant (synonymous variant)	FBLN1-related disorder	GLikely benign
Select item 3050543	NM_006486.3(FBLN1):c.1827C>T (p.Phe609=)	FBLN1	Single nucleotide variant (synonymous variant)	FBLN1-related disorder	GLikely benign
Select item 3047886	NM_006486.3(FBLN1):c.1663G>A (p.Glu555Lys)	FBLN1 (E555K)	Single nucleotide variant (missense variant)	FBLN1-related disorder	GLikely benign
Select item 3047139	NM_006486.3(FBLN1):c.1698-11442C>T	FBLN1	Single nucleotide variant (synonymous variant +1 more)	FBLN1-related disorder	GLikely benign
Select item 3046283	NM_006486.3(FBLN1):c.1698-11497C>T	FBLN1	Single nucleotide variant (synonymous variant +1 more)	FBLN1-related disorder	GLikely benign
Select item 3042407	NM_006486.3(FBLN1):c.1146C>T (p.Cys382=)	FBLN1	Single nucleotide variant (synonymous variant)	FBLN1-related disorder	GLikely benign
Select item 3042321	NM_006486.3(FBLN1):c.1697+7447C>T	FBLN1	Single nucleotide variant (intron variant)	FBLN1-related disorder	GLikely benign
Select item 3039995	NM_006486.3(FBLN1):c.1698-11326C>T	FBLN1	Single nucleotide variant (synonymous variant +1 more)	FBLN1-related disorder	GLikely benign
Select item 3037032	NM_006486.3(FBLN1):c.1698-11532_1698-11531del	FBLN1 (Y589fs)	Deletion (frameshift variant +1 more)	FBLN1-related disorder	GUncertain significance
Select item 3031313	NM_006486.3(FBLN1):c.79+6G>A	FBLN1	Single nucleotide variant (intron variant)	FBLN1-related disorder	GLikely benign
Select item 3021707	NM_006486.3(FBLN1):c.79+13C>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021231	NM_006486.3(FBLN1):c.79+14G>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020813	NM_006486.3(FBLN1):c.1449C>T (p.Asp483=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004999	NM_006486.3(FBLN1):c.1494C>T (p.Cys498=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996738	NM_006486.3(FBLN1):c.975C>T (p.Cys325=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980571	NM_006486.3(FBLN1):c.1468G>A (p.Gly490Arg)	FBLN1 (G490R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976409	NM_006486.3(FBLN1):c.152C>T (p.Ser51Leu)	FBLN1 (S51L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2976052	NM_006486.3(FBLN1):c.58C>T (p.Leu20Phe)	FBLN1 (L20F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967347	NM_006486.3(FBLN1):c.1792C>T (p.His598Tyr)	FBLN1 (H598Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960600	NM_006486.3(FBLN1):c.2016C>T (p.Ala672=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959260	NM_006486.3(FBLN1):c.661A>G (p.Ile221Val)	FBLN1 (I221V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957608	NM_006486.3(FBLN1):c.784+11C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2891381	NM_006486.3(FBLN1):c.1467C>T (p.Thr489=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885765	NM_006486.3(FBLN1):c.1797C>T (p.Thr599=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885613	NM_006486.3(FBLN1):c.1321+12del	FBLN1	Deletion (intron variant)	not provided	GBenign
Select item 2884323	NM_006486.3(FBLN1):c.1119C>T (p.Cys373=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853750	NM_006486.3(FBLN1):c.74C>T (p.Ala25Val)	FBLN1 (A25V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738115	NM_006486.3(FBLN1):c.1698-6C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730478	NM_006486.3(FBLN1):c.1369G>A (p.Val457Ile)	FBLN1 (V457I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2715483	NM_006486.3(FBLN1):c.1821C>T (p.Arg607=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2714729	NM_006486.3(FBLN1):c.1674G>C (p.Glu558Asp)	FBLN1 (E558D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2710508	NM_006486.3(FBLN1):c.465C>T (p.Val155=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	GPathogenic
Select item 2681278	NM_006486.3(FBLN1):c.1752C>T (p.Asn584=)	FBLN1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2653294	NM_006486.3(FBLN1):c.2100G>A (p.Glu700=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653293	NM_006486.3(FBLN1):c.1698-9527G>T	FBLN1 (D600Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2653292	NM_006486.3(FBLN1):c.1698-11349G>A	FBLN1 (E650K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2653291	NM_006486.3(FBLN1):c.1698-11500G>A	FBLN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653290	NM_006486.3(FBLN1):c.1321+6G>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653289	NM_006486.3(FBLN1):c.1292G>A (p.Arg431Gln)	FBLN1 (R431Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653288	NM_006486.3(FBLN1):c.321+6A>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2616946	NM_006486.3(FBLN1):c.1770C>A (p.Phe590Leu)	FBLN1 (F590L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2602523	NM_006486.3(FBLN1):c.482C>T (p.Thr161Met)	FBLN1 (T161M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595050	NM_006486.3(FBLN1):c.1957G>A (p.Asp653Asn)	FBLN1 (D653N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2584812	NM_006486.3(FBLN1):c.451G>A (p.Gly151Arg)	FBLN1 (G151R)	Single nucleotide variant (missense variant)	Synpolydactyly type 2	GUncertain significance
Select item 2566122	NM_006486.3(FBLN1):c.113C>T (p.Ala38Val)	FBLN1 (A38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559883	NM_006486.3(FBLN1):c.2096C>T (p.Ser699Phe)	FBLN1 (S699F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528810	NM_006486.3(FBLN1):c.1498A>G (p.Asn500Asp)	FBLN1 (N500D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517227	NM_006486.3(FBLN1):c.1456G>A (p.Ala486Thr)	FBLN1 (A486T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510883	NM_006486.3(FBLN1):c.1990C>G (p.Arg664Gly)	FBLN1 (R664G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491724	NM_006486.3(FBLN1):c.466G>C (p.Gly156Arg)	FBLN1 (G156R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468944	NM_006486.3(FBLN1):c.2092G>A (p.Val698Ile)	FBLN1 (V698I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467799	NM_006486.3(FBLN1):c.1703A>G (p.Gln568Arg)	FBLN1 (Q568R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369947	NM_006486.3(FBLN1):c.1721C>T (p.Thr574Met)	FBLN1 (T574M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365978	NM_006486.3(FBLN1):c.1751A>G (p.Asn584Ser)	FBLN1 (N584S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350191	NM_006486.3(FBLN1):c.1891A>G (p.Asn631Asp)	FBLN1 (N631D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345928	NM_006486.3(FBLN1):c.1058G>T (p.Arg353Leu)	FBLN1 (R353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337126	NM_006486.3(FBLN1):c.1235G>T (p.Gly412Val)	FBLN1 (G412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332330	NM_006486.3(FBLN1):c.1147G>A (p.Glu383Lys)	FBLN1 (E383K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322939	NM_006486.3(FBLN1):c.299G>C (p.Ser100Thr)	FBLN1 (S100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322587	NM_006486.3(FBLN1):c.604T>A (p.Phe202Ile)	FBLN1 (F202I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316866	NM_006486.3(FBLN1):c.1819C>T (p.Arg607Cys)	FBLN1 (R607C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308793	NM_006486.3(FBLN1):c.286G>T (p.Gly96Cys)	FBLN1 (G96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305613	NM_006486.3(FBLN1):c.1240A>C (p.Lys414Gln)	FBLN1 (K414Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286530	NM_006486.3(FBLN1):c.86C>T (p.Ala29Val)	FBLN1 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283815	NM_006486.3(FBLN1):c.1978G>A (p.Val660Met)	FBLN1 (V660M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245118	NM_006486.3(FBLN1):c.1856G>A (p.Arg619Gln)	FBLN1 (R619Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244339	NM_006486.3(FBLN1):c.1103G>T (p.Gly368Val)	FBLN1 (G368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241188	NM_006486.3(FBLN1):c.1375G>A (p.Gly459Ser)	FBLN1 (G459S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214867	NM_006486.3(FBLN1):c.1832G>A (p.Arg611His)	FBLN1 (R611H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209738	NM_006486.3(FBLN1):c.2080G>A (p.Val694Ile)	FBLN1 (V694I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2198752	NM_006486.3(FBLN1):c.785-6T>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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