Full data view for gene FLII

Information The variants shown are described using the NM_002018.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.63+134G>A r.(=) p.(=) Unknown - benign g.18161808C>T - FLII(NM_001256264.2):c.-18G>A - FLII_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.63+198G>A r.(=) p.(=) Unknown - benign g.18161744C>T - FLII(NM_001256264.2):c.30+17G>A - FLII_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.916_917insGCCC r.(?) p.(Phe306Cysfs*3) Unknown - VUS g.18156711_18156712insGGGC - FLII(NM_001256264.2):c.883_884insGCCC (p.F295Cfs*3) - FLII_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.929_930insAAG r.(?) p.(Ser311dup) Unknown - VUS g.18156698_18156699insCTT - FLII(NM_001256264.2):c.896_897insAAG (p.S300dup) - FLII_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1091A>T r.(?) p.(Glu364Val) Parent #2 - VUS g.18155793T>A g.18252479T>A - - FLII_000005 - PubMed: Beck 2014 - rs61741784 Germline - - - - - DNA SEQ-NG - WES retinal disease family PubMed: Beck 2014 2-generation family, 5 affected (2F, 3M) F;M yes Iraq - - - - - 5 Johan den Dunnen
?/. - c.1360C>T r.(?) p.(Gln454*) Unknown - VUS g.18155017G>A - FLII(NM_002018.3):c.1360C>T (p.Q454*) - FLII_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1360C>T r.(?) p.(Gln454Ter) Parent #1 - likely pathogenic (recessive) g.18155017G>A g.18251703G>A - - FLII_000007 - PubMed: Ruijmbeek 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CM Fam1PatII2 PubMed: Ruijmbeek 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Netherlands - - - - - 1 Johan den Dunnen
-/. - c.2018+18G>C r.(=) p.(=) Unknown - benign g.18152096C>G - FLII(NM_001256264.2):c.1985+18G>C - FLII_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2020C>G r.(?) p.(Leu674Val) Both (homozygous) - likely pathogenic (recessive) g.18152034G>C g.18248720G>C - - FLII_000022 - PubMed: Ruijmbeek 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CM Fam2PatII1 PubMed: Ruijmbeek 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.2380C>T r.(?) p.(Arg794Cys) Unknown - VUS g.18151078G>A - FLII(NM_001256264.2):c.2347C>T (p.R783C) - FLII_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2572G>A r.(?) p.(Gly858Ser) Unknown - likely benign g.18150587C>T - FLII(NM_002018.4):c.2572G>A (p.(Gly858Ser)) - FLII_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3428T>A r.(?) p.(Phe1143Tyr) Unknown - VUS g.18149133A>T - FLII(NM_001256264.2):c.3395T>A (p.F1132Y) - FLII_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3468C>T r.(?) p.(=) Unknown - likely benign g.18149093G>A - FLII(NM_001256264.2):c.3435C>T (p.D1145=) - FLII_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3502C>T r.(?) p.(Arg1168Trp) Unknown - VUS g.18149059G>A - FLII(NM_002018.3):c.3502C>T (p.R1168W) - FLII_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3502C>T r.(?) p.(Arg1168Trp) Parent #2 - likely pathogenic (recessive) g.18149059G>A g.18245745G>A - - FLII_000006 - PubMed: Ruijmbeek 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CM Fam1PatII2 PubMed: Ruijmbeek 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.3594A>T r.(?) p.(=) Unknown - likely benign g.18148884T>A - FLII(NM_001256264.2):c.3561A>T (p.L1187=) - FLII_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3718C>T r.(?) p.(Arg1240Cys) Both (homozygous) - likely pathogenic (recessive) g.18148544G>A g.18245230G>A - - FLII_000021 - PubMed: Ruijmbeek 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CM Fam3PatII1 PubMed: Ruijmbeek 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Saudi Arabia - - - - - 1 Johan den Dunnen
-/. - c.3728G>A r.(?) p.(Arg1243His) Unknown - benign g.18148534C>T - FLII(NM_001256264.2):c.3695G>A (p.R1232H) - FLII_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3766C>T r.(?) p.(Arg1256Cys) Parent #1 - VUS g.18148496G>A g.18245182G>A - - FLII_000004 - PubMed: Beck 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease family PubMed: Beck 2014 2-generation family, 5 affected (2F, 3M) F;M yes Iraq - - - - - 5 Johan den Dunnen
-/. - c.3777C>T r.(?) p.(His1259=) Unknown - benign g.18148485G>A - FLII(NM_001256264.2):c.3744C>T (p.H1248=) - FLII_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2337A>G r.(=) p.(=) Unknown - likely benign g.18146115T>C - LLGL1(NM_004140.3):c.3175T>C (p.(Cys1059Arg)) - FLII_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2544C>T r.(=) p.(=) Unknown - VUS g.18145908G>A - LLGL1(NM_004140.3):c.3082G>A (p.(Asp1028Asn)) - FLII_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2561G>A r.(=) p.(=) Unknown - likely benign g.18145891C>T - LLGL1(NM_004140.3):c.3065C>T (p.(Thr1022Met)) - FLII_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3623C>T r.(=) p.(=) Unknown - VUS g.18144829G>A - LLGL1(NM_004140.3):c.2567G>A (p.(Arg856His)) - FLII_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4477C>A r.(=) p.(=) Unknown - likely benign g.18143975G>T - LLGL1(NM_004140.3):c.2290G>T (p.(Val764Leu)) - FLII_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8487G>A r.(=) p.(=) Unknown - likely benign g.18139965C>T - LLGL1(NM_004140.3):c.1397C>T (p.(Ala466Val)) - FLII_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11301_*11303del r.(=) p.(=) Unknown - VUS g.18137152_18137154del - LLGL1(NM_004140.3):c.453_455delAGC (p.(Ala152del)) - FLII_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*19376T>C r.(=) p.(=) Unknown - VUS g.18129076A>G - LLGL1(NM_004140.3):c.80A>G (p.(Lys27Arg)) - FLII_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*19404G>A r.(=) p.(=) Unknown - VUS g.18129048C>T - LLGL1(NM_004140.3):c.52C>T (p.(Leu18Phe)) - FLII_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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