Full data view for gene LZTFL1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_020347.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

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ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

ID_report     

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Owner     
+/. - c.253C>T r.(?) p.(Arg85Ter) Unknown - pathogenic g.45877152G>A g.45835660G>A - - LZTFL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.260T>C r.(?) p.(Leu87Pro) Paternal (confirmed) - likely pathogenic g.45877145A>G g.45835653A>G LZTFL1 p.Leu87Pro; c.260T>C - LZTFL1_000013 heterozygous PubMed: Schaefer 2014 - - Germline yes - - - - DNA STR, SEQ blood - BBS patient 1 PubMed: Schaefer 2014 dizygotic twins, patient 1 F - France - - - - - 1 LOVD
+?/. - c.260T>C r.(?) p.(Leu87Pro) Paternal (confirmed) - likely pathogenic g.45877145A>G g.45835653A>G LZTFL1 p.Leu87Pro; c.260T>C - LZTFL1_000013 heterozygous PubMed: Schaefer 2014 - - Germline yes - - - - DNA STR, SEQ blood - BBS patient 2 PubMed: Schaefer 2014 dizygotic twins, patient 2 F - France - - - - - 1 LOVD
+/. - c.322C>T r.(?) p.(Arg108*) Parent #1 - pathogenic g.45877083G>A g.45835591G>A - - LZTFL1_000009 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs769327864 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.376A>C r.(?) p.(Asn126His) Unknown - benign g.45875738T>G g.45834246T>G LZTFL1(NM_001276378.1):c.325A>C (p.N109H) - LZTFL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.384G>A r.spl? p.(Lys128=) Both (homozygous) - likely pathogenic (recessive) g.45875730C>T g.45834238C>T g.81805G>A - LZTFL1_000008 - - - - Germline yes - - - - DNA SEQ-NG-I Blood WES and Sanger BBS17 - - - M yes Turkey - 00y36m - - - 1 Evren Gümüş
?/. - c.384G>A r.spl? p.(Lys128=) Both (homozygous) - VUS g.45875730C>T g.45834238C>T LZTFL1* (NM_020347) (LOVD#0000632303), c.384G > A, p.(Lys128 = ), Possibly splice site - LZTFL1_000008 homozygous PubMed: Gumus 2021 - - Germline ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 7 PubMed: Gumus 2021 - M - Turkey - - - - - 1 LOVD
-/. - c.384+12G>T r.(=) p.(=) Unknown - benign g.45875718C>A g.45834226C>A LZTFL1(NM_001276378.2):c.333+12G>T - LZTFL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.402_406del r.0 p.(Pro136Thrfs*5) Both (homozygous) - pathogenic g.45874593_45874597del g.45833101_45833105del c.402-406del, p.Pro136ThrfsX5 - LZTFL1_000011 no LZTFL1 transcript was found in the patient's fibroblasts and no protein could be detected; ho PubMed: Marion 2012 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood SNP array - homozygosity mapping, exome sequencing BBS II:5 PubMed: Marion 2012 II:1, older affected brother, deceased M yes France Algerian - - - - 1 LOVD
-?/. - c.601-19A>G r.(=) p.(=) Unknown - likely benign g.45870126T>C - LZTFL1(NM_020347.4):c.601-19A>G - LZTFL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646G>A r.(?) p.(Ala216Thr) Unknown - likely benign g.45870062C>T g.45828570C>T LZTFL1(NM_020347.4):c.646G>A (p.A216T) - LZTFL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.685A>G r.(?) p.(Lys229Glu) Unknown - likely benign g.45870023T>C g.45828531T>C LZTFL1(NM_001276378.1):c.634A>G (p.K212E) - LZTFL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.721G>A r.(?) p.(Ala241Thr) Unknown - VUS g.45869987C>T - LZTFL1(NM_020347.4):c.721G>A (p.A241T) - LZTFL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.758A>C r.(?) p.(Gln253Pro) Unknown - VUS g.45869950T>G g.45828458T>G LZTFL1(NM_001276378.1):c.707A>C (p.Q236P) - LZTFL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.778G>T r.(?) p.(Glu260*) Maternal (confirmed) - likely pathogenic g.45868951C>A g.45827459C>A LZTFL1 p.Glu260*; c.778G>T - LZTFL1_000012 heterozygous PubMed: Schaefer 2014 - - Germline yes - - - - DNA STR, SEQ blood - BBS patient 1 PubMed: Schaefer 2014 dizygotic twins, patient 1 F - France - - - - - 1 LOVD
+?/. - c.778G>T r.(?) p.(Glu260*) Maternal (confirmed) - likely pathogenic g.45868951C>A g.45827459C>A LZTFL1 p.Glu260*; c.778G>T - LZTFL1_000012 heterozygous PubMed: Schaefer 2014 - - Germline yes - - - - DNA STR, SEQ blood - BBS patient 2 PubMed: Schaefer 2014 dizygotic twins, patient 2 F - France - - - - - 1 LOVD
?/. - c.803C>T r.(?) p.(Thr268Ile) Unknown - VUS g.45868926G>A - LZTFL1(NM_001276378.2):c.752C>T (p.T251I) - LZTFL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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