Full data view for gene FBN3

Information The variants shown are described using the NM_032447.3 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.102C>T r.(?) p.(Asp34=) Unknown - benign g.8212263G>A g.8147379G>A FBN3(NM_032447.5):c.102C>T (p.D34=) - FBN3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.143G>A r.(143g>a) p.(Arg48Gln) Paternal (confirmed) - likely pathogenic g.8212222C>T g.8147338C>T - - FBN3_000001 - - - rs149095306 Germline yes - - - - DNA SEQ-NG-I blood - CM1 @VED - - F no Italy White - - - Surgery of cranial posterior fossa 3 Patrizia De Marco
-/. - c.349+6C>T r.(=) p.(=) Unknown - benign g.8211005G>A g.8146121G>A FBN3(NM_032447.5):c.349+6C>T - FBN3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.349+14G>A r.(=) p.(=) Unknown - benign g.8210997C>T g.8146113C>T FBN3(NM_032447.5):c.349+14G>A - FBN3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.356G>C r.(?) p.(Gly119Ala) Unknown - likely benign g.8210816C>G - FBN3(NM_032447.5):c.356G>C (p.(Gly119Ala)) - FBN3_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445+3_445+6del r.spl? p.? Unknown - VUS g.8210723_8210726del g.8145839_8145842del FBN3(NM_032447.5):c.445+3_445+6delGAGT - FBN3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647G>A r.(?) p.(Arg216His) Unknown - VUS g.8206916C>T g.8142032C>T FBN3(NM_032447.5):c.647G>A (p.R216H) - FBN3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.716A>G r.(?) p.(Asn239Ser) Unknown - likely benign g.8206847T>C - FBN3(NM_032447.5):c.716A>G (p.(Asn239Ser)) - FBN3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.986C>T r.(?) p.(Pro329Leu) Unknown - benign g.8203328G>A g.8138444G>A FBN3(NM_032447.5):c.986C>T (p.P329L) - FBN3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1060C>A r.(?) p.(Pro354Thr) Unknown - likely benign g.8203166G>T - FBN3(NM_032447.3):c.1060C>A (p.(Pro354Thr)) - FBN3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.1234T>C r.(?) p.(Cys412Arg) Unknown - VUS g.8201383A>G g.8136499A>G - - FBN3_000076 - PubMed: Gu 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HR - PubMed: Gu 2018 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.1332C>T r.(?) p.(Arg444=) Unknown - likely benign g.8201285G>A g.8136401G>A FBN3(NM_032447.5):c.1332C>T (p.R444=) - FBN3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1345+6C>A r.(=) p.(=) Unknown - benign g.8201266G>T g.8136382G>T FBN3(NM_032447.5):c.1345+6C>A - FBN3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1381G>A r.(?) p.(Gly461Ser) Unknown - VUS g.8201158C>T g.8136274C>T FBN3(NM_032447.3):c.1381G>A (p.(Gly461Ser)) - FBN3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1466-6C>T r.(=) p.(=) Unknown - likely benign g.8200976G>A g.8136092G>A FBN3(NM_032447.3):c.1466-6C>T (p.(=)) - FBN3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1591+7T>G r.(=) p.(=) Unknown - likely benign g.8200838A>C g.8135954A>C FBN3(NM_032447.5):c.1591+7T>G - FBN3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1591+13T>G r.(=) p.(=) Unknown - benign g.8200832A>C g.8135948A>C FBN3(NM_032447.5):c.1591+13T>G - FBN3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1591+17C>G r.(=) p.(=) Unknown - benign g.8200828G>C g.8135944G>C FBN3(NM_032447.5):c.1591+17C>G - FBN3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1599C>T r.(?) p.(Asn533=) Unknown - benign g.8197983G>A g.8133099G>A FBN3(NM_032447.5):c.1599C>T (p.N533=) - FBN3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1624G>A r.(?) p.(Val542Ile) Unknown - benign g.8197958C>T g.8133074C>T FBN3(NM_032447.5):c.1624G>A (p.V542I) - FBN3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1714+3G>A r.spl? p.? Unknown - benign g.8197865C>T g.8132981C>T FBN3(NM_032447.5):c.1714+3G>A - FBN3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1785C>T r.(?) p.(Arg595=) Unknown - benign g.8196643G>A g.8131759G>A FBN3(NM_032447.5):c.1785C>T (p.R595=) - FBN3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1808C>A r.(?) p.(Ala603Glu) Unknown - VUS g.8196620G>T - FBN3(NM_032447.5):c.1808C>A (p.(Ala603Glu)) - FBN3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1920C>G r.(?) p.(Ser640=) Unknown - benign g.8196508G>C g.8131624G>C FBN3(NM_032447.5):c.1920C>G (p.S640=) - FBN3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1984G>A r.(?) p.(Asp662Asn) Unknown - benign g.8196444C>T g.8131560C>T FBN3(NM_032447.5):c.1984G>A (p.D662N) - FBN3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2505C>T r.(?) p.(Cys835=) Unknown - benign g.8191401G>A g.8126517G>A FBN3(NM_032447.5):c.2505C>T (p.C835=) - FBN3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2555-17T>C r.(=) p.(=) Unknown - benign g.8191248A>G g.8126364A>G FBN3(NM_032447.5):c.2555-17T>C - FBN3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2555-7G>A r.(=) p.(=) Unknown - benign g.8191238C>T g.8126354C>T FBN3(NM_032447.5):c.2555-7G>A - FBN3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2602G>A r.(?) p.(Asp868Asn) Unknown - benign g.8191184C>T g.8126300C>T FBN3(NM_032447.5):c.2602G>A (p.D868N) - FBN3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2941C>G r.(?) p.(Arg981Gly) Unknown - VUS g.8188683G>C - FBN3(NM_032447.5):c.2941C>G (p.(Arg981Gly)) - FBN3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2942G>A r.(?) p.(Arg981Gln) Parent #2 - VUS g.8188682C>T g.8123798C>T - - FBN3_000075 - PubMed: Arno 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES retinal disease FamGC17880Pat3 PubMed: Arno 2017 3-generation family, 1 affeted, unaffected heterozygous carrier parents/relatives F yes - - - - - - 1 Johan den Dunnen
-/. - c.3083-12dup r.(=) p.(=) Unknown - benign g.8186286dup g.8121402dup FBN3(NM_032447.5):c.3083-12dupC - FBN3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3104C>T r.(?) p.(Ser1035Phe) Unknown - VUS g.8186249G>A g.8121365G>A FBN3(NM_032447.3):c.3104C>T (p.(Ser1035Phe)) - FBN3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3877A>G r.(?) p.(Ser1293Gly) Unknown - benign g.8176945T>C g.8112061T>C FBN3(NM_032447.5):c.3877A>G (p.S1293G) - FBN3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3903G>A r.(?) p.(Pro1301=) Unknown - benign g.8176919C>T g.8112035C>T FBN3(NM_032447.5):c.3903G>A (p.P1301=) - FBN3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3976G>A r.(?) p.(Val1326Ile) Unknown - benign g.8176640C>T g.8111756C>T FBN3(NM_032447.5):c.3976G>A (p.V1326I) - FBN3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4047C>T r.(?) p.(Cys1349=) Unknown - benign g.8176569G>A g.8111685G>A FBN3(NM_032447.5):c.4047C>T (p.C1349=) - FBN3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4143G>A r.(?) p.(Ala1381=) Unknown - benign g.8176009C>T g.8111125C>T FBN3(NM_032447.5):c.4143G>A (p.A1381=) - FBN3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4199G>A r.(?) p.(Arg1400Gln) Parent #1 - VUS g.8175953C>T g.8111069C>T - - FBN3_000074 - PubMed: Arno 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES retinal disease FamGC17880Pat3 PubMed: Arno 2017 3-generation family, 1 affeted, unaffected heterozygous carrier parents/relatives F yes - - - - - - 1 Johan den Dunnen
-/. - c.4334-13T>C r.(=) p.(=) Unknown - benign g.8174650A>G g.8109766A>G FBN3(NM_032447.5):c.4334-13T>C - FBN3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4456+4A>G r.spl? p.? Unknown - benign g.8174511T>C g.8109627T>C FBN3(NM_032447.5):c.4456+4A>G - FBN3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4462C>T r.(?) p.(Arg1488Trp) Unknown - VUS g.8174267G>A - - - FBN3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4745C>T r.(?) p.(Thr1582Met) Unknown - VUS g.8171060G>A g.8106176G>A FBN3(NM_032447.5):c.4745C>T (p.T1582M) - FBN3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4754G>T r.(?) p.(Ser1585Ile) Unknown - VUS g.8171051C>A g.8106167C>A FBN3(NM_032447.5):c.4754G>T (p.S1585I) - FBN3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4840G>A r.(?) p.(Gly1614Ser) Unknown - benign g.8168545C>T g.8103661C>T FBN3(NM_032447.5):c.4840G>A (p.G1614S) - FBN3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4847G>A r.(?) p.(Cys1616Tyr) Unknown - VUS g.8168538C>T g.8103654C>T FBN3(NM_032447.5):c.4847G>A (p.(Cys1616Tyr)) - FBN3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5089+18A>G r.(=) p.(=) Unknown - benign g.8167590T>C g.8102706T>C FBN3(NM_032447.5):c.5089+18A>G - FBN3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5090-12C>T r.(=) p.(=) Unknown - benign g.8165868G>A g.8100984G>A FBN3(NM_032447.5):c.5090-12C>T - FBN3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5343C>G r.(?) p.(Ile1781Met) Unknown - VUS g.8161835G>C - - - FBN3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5417G>A r.(?) p.(Arg1806Gln) Unknown - benign g.8161450C>T g.8096566C>T FBN3(NM_032447.5):c.5417G>A (p.R1806Q) - FBN3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5607C>G r.(?) p.(Asn1869Lys) Unknown - benign g.8160897G>C g.8096013G>C FBN3(NM_032447.5):c.5607C>G (p.N1869K) - FBN3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5710C>T r.(?) p.(Leu1904Phe) Unknown - benign g.8160334G>A g.8095450G>A FBN3(NM_032447.5):c.5710C>T (p.L1904F) - FBN3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5826C>A r.(?) p.(Pro1942=) Unknown - benign g.8159409G>T g.8094525G>T FBN3(NM_032447.5):c.5826C>A (p.P1942=) - FBN3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5873C>A r.(?) p.(Pro1958His) Unknown - benign g.8159362G>T g.8094478G>T FBN3(NM_032447.5):c.5873C>A (p.P1958H) - FBN3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5896C>G r.(?) p.(His1966Asp) Unknown - benign g.8159339G>C g.8094455G>C FBN3(NM_032447.5):c.5896C>G (p.H1966D) - FBN3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6177G>A r.(?) p.(Glu2059=) Unknown - benign g.8154990C>T g.8090106C>T FBN3(NM_032447.5):c.6177G>A (p.E2059=) - FBN3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6250+18A>G r.(=) p.(=) Unknown - benign g.8154760T>C g.8089876T>C FBN3(NM_032447.5):c.6250+18A>G - FBN3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6603T>C r.(?) p.(Asp2201=) Unknown - benign g.8152725A>G g.8087841A>G FBN3(NM_032447.5):c.6603T>C (p.D2201=) - FBN3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6604G>A r.(?) p.(Gly2202Arg) Parent #1 - VUS g.8152724C>T g.8087840C>T - - FBN3_000071 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138457751 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.6832G>C r.(?) p.(Asp2278His) Unknown - VUS g.8151132C>G g.8086248C>G FBN3(NM_032447.3):c.6832G>C (p.(Asp2278His)) - FBN3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7360C>A r.(?) p.(Gln2454Lys) Unknown - likely benign g.8145980G>T g.8081096G>T FBN3(NM_032447.5):c.7360C>A (p.Q2454K) - FBN3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7419G>A r.(?) p.(Pro2473=) Unknown - benign g.8145921C>T g.8081037C>T FBN3(NM_032447.5):c.7419G>A (p.P2473=) - FBN3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7498G>A r.(?) p.(Gly2500Arg) Unknown - VUS g.8140251C>T g.8075367C>T FBN3(NM_032447.3):c.7498G>A (p.(Gly2500Arg)) - FBN3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7620T>G r.(?) p.(His2540Gln) Unknown - benign g.8140037A>C g.8075153A>C FBN3(NM_032447.5):c.7620T>G (p.H2540Q) - FBN3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7780G>A r.(?) p.(Val2594Ile) Parent #2 - VUS g.8138104C>T g.8073220C>T - - FBN3_000073 - PubMed: Arno 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS retinal disease FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - - - - 1 Johan den Dunnen
-?/. - c.7780G>A r.(?) p.(Val2594Ile) Unknown - likely benign g.8138104C>T - FBN3(NM_032447.5):c.7780G>A (p.(Val2594Ile)) - FBN3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7830G>T r.(?) p.(Glu2610Asp) Unknown - benign g.8138054C>A g.8073170C>A FBN3(NM_032447.5):c.7830G>T (p.E2610D) - FBN3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7938-20C>A r.(=) p.(=) Unknown - benign g.8137102G>T g.8072218G>T FBN3(NM_032447.5):c.7938-20C>A - FBN3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8366C>A r.(?) p.(Pro2789Gln) Parent #1 - VUS g.8130867G>T g.8065983G>T - - FBN3_000072 - PubMed: Arno 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS retinal disease FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - - - - 1 Johan den Dunnen
-?/. - c.8366C>A r.(?) p.(Pro2789Gln) Unknown - likely benign g.8130867G>T - FBN3(NM_032447.5):c.8366C>A (p.(Pro2789Gln)) - FBN3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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