Full data view for gene IFT81

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_014055.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.65A>C r.(?) p.(Asn22Thr) Unknown - VUS g.110565250A>C - IFT81(NM_014055.3):c.65A>C (p.N22T) - IFT81_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.106C>G r.(?) p.(Gln36Glu) Unknown ACMG likely pathogenic g.110565291C>G g.110127486C>G IFT81 c.106C>G(;)714A>C, V1: c.106C>G, (p.Gln36Glu) - IFT81_000021 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F035 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.106C>G r.(?) p.(Gln36Glu) Unknown - likely pathogenic g.110565291C>G g.110127486C>G IFT81 c.106C>G(;)714A>C; p.(Gln36Glu) - IFT81_000021 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F035 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
-?/. - c.144+23del r.(=) p.(=) Unknown - likely benign g.110565352del - IFT81(NM_014055.4):c.144+23delT - IFT81_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.190C>T r.(?) p.(Arg64Ter) Unknown ACMG pathogenic g.110565896C>T g.110128091C>T - - IFT81_000031 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 072178 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.335T>C r.(?) p.(Leu112Pro) Unknown - VUS g.110566841T>C - - - IFT81_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.401A>G r.(?) p.(Asp134Gly) Unknown - likely benign g.110566907A>G - IFT81(NM_001143779.1):c.401A>G (p.(Asp134Gly)) - IFT81_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.429+20T>C r.(=) p.(=) Unknown - benign g.110566955T>C g.110129150T>C IFT81(NM_014055.4):c.429+20T>C - IFT81_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.519+1G>A r.spl? p.? Unknown - likely pathogenic g.110570442G>A - IFT81(NM_014055.3):c.519+1G>A - IFT81_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.714A>C r.(?) p.(Gln238His) Unknown - benign g.110574598A>C g.110136793A>C IFT81(NM_014055.4):c.714A>C (p.Q238H) - IFT81_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.714A>C r.(?) p.(Gln238His) Unknown - likely benign g.110574598A>C - IFT81(NM_014055.4):c.714A>C (p.Q238H) - IFT81_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.714A>C r.(?) p.(Gln238His) Unknown ACMG VUS g.110574598A>C g.110136793A>C IFT81 c.106C>G(;)714A>C, V2: c.714A>C, (p.Gln238His) - IFT81_000002 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F035 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
?/. - c.714A>C r.(?) p.(Gln238His) Unknown - VUS g.110574598A>C g.110136793A>C IFT81 c.106C>G(;)714A>C; p.(Gln238His) - IFT81_000002 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.001318; GnomAD_exome_East: 0.0137; GnomAD_All: 0.00105 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F035 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
-?/. - c.781+12T>C r.(=) p.(=) Unknown - likely benign g.110574677T>C - IFT81(NM_014055.4):c.781+12T>C - IFT81_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.792G>A r.(?) p.(Lys264=) Unknown - benign g.110581197G>A g.110143392G>A IFT81(NM_014055.4):c.792G>A (p.K264=) - IFT81_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.963A>G r.(?) p.(Thr321=) Unknown - likely benign g.110584775A>G - IFT81(NM_014055.3):c.963A>G (p.T321=) - IFT81_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1042-8T>G r.(=) p.(=) Unknown - likely benign g.110600716T>G - IFT81(NM_014055.3):c.1042-8T>G - IFT81_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1104G>A r.(?) p.(Lys368=) Unknown - likely benign g.110600786G>A - IFT81(NM_014055.3):c.1104G>A (p.K368=) - IFT81_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1150C>T r.(?) p.(Arg384Cys) Unknown - VUS g.110600832C>T - IFT81(NM_014055.4):c.1150C>T (p.(Arg384Cys)) - IFT81_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1188+1G>A r.spl p.? Unknown - pathogenic (recessive) g.110600871G>A g.110163066G>A - - IFT81_000012 - PubMed: Perreault 2015, Journal: Perrault 2015 - - Germline ? - - - - DNA SEQ, SEQ-NG-I blood JensDoets ? Fam1PatA3286-21 PubMed: Perreault 2015, Journal: Perrault 2015 - F yes Egypt - >05y - - - 1 Jens Doets
-?/. - c.1188+10G>A r.(=) p.(=) Unknown - likely benign g.110600880G>A - IFT81(NM_014055.3):c.1188+10G>A - IFT81_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1188+4794_1188+4799del r.(=) p.(=) Unknown - benign g.110605664_110605669del g.110167859_110167864del IFT81(NM_014055.4):c.1188+4794_1188+4799delTTTTTT - IFT81_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1188+4795_1188+4799del r.(=) p.(=) Unknown - benign g.110605665_110605669del g.110167860_110167864del IFT81(NM_014055.4):c.1188+4795_1188+4799delTTTTT - IFT81_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1188+4796_1188+4799del r.(=) p.(=) Unknown - benign g.110605666_110605669del g.110167861_110167864del IFT81(NM_014055.4):c.1188+4796_1188+4799delTTTT - IFT81_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1188+4875C>T r.(=) p.(=) Unknown - likely benign g.110605745C>T - IFT81(NM_001347946.2):c.1258C>T (p.(Leu420Phe)) - IFT81_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1213C>T r.(?) p.(Arg405*) Maternal (confirmed) - pathogenic g.110618251C>T - NM_001143779: c.1213C>T,p.R405* - IFT81_000025 - PubMed: Dharmat-2017 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Dharmat-2017 - F - - - - - - - 1 LOVD
+/. - c.1213C>T r.(?) p.(Arg405*) Unknown - pathogenic g.110618251C>T - IFT81(NM_014055.4):c.1213C>T (p.R405*) - IFT81_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1251A>C r.(?) p.(Ile417=) Unknown - likely benign g.110618289A>C - IFT81(NM_014055.3):c.1251A>C (p.I417=) - IFT81_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1275C>T r.(?) p.(Phe425=) Unknown - likely benign g.110618313C>T - IFT81(NM_014055.4):c.1275C>T (p.F425=) - IFT81_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1275C>T r.(?) p.(Phe425=) Unknown - likely benign g.110618313C>T - IFT81(NM_014055.4):c.1275C>T (p.F425=) - IFT81_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1284G>T r.(?) p.(Leu428Phe) Unknown - likely benign g.110618322G>T - IFT81(NM_014055.3):c.1284G>T (p.(Leu428Phe)) - IFT81_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14i c.1557+3_1557+6del r.1468_1557del p.Val490_Gln510del Parent #2 ACMG likely pathogenic (recessive) g.110630514_110630517del g.110192709_110192712del - - IFT81_000016 - PubMed: Ashraf 2020, Journal: Ashraf 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-I blood WES SRTD FAM1Pat:3 PubMed: Ashraf 2020, Journal: Ashraf 2020 2-generation family, one affected male, unaffected heterozygous carrier parents M no Romania - >11y - - - 1 Jens Doets
-/. - c.1617C>T r.(?) p.(Leu539=) Unknown - benign g.110641728C>T g.110203923C>T IFT81(NM_014055.4):c.1617C>T (p.L539=) - IFT81_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1617C>T r.(?) p.(Leu539=) Unknown - likely benign g.110641728C>T - IFT81(NM_014055.4):c.1617C>T (p.L539=) - IFT81_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 18 c.1841T>C r.(?) p.(Leu614Pro) Paternal (confirmed) - likely pathogenic g.110647014T>C - NM_001143779: c.1841T>C, p.L614P - IFT81_000026 pathogenicity supported by both in vivo and in vitro functional studies PubMed: Dharmat-2017 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Dharmat-2017 - F - - - - - - - 1 LOVD
+/. - c.1934T>G r.(?) p.(Leu645*) Parent #1 ACMG likely pathogenic (recessive) g.110655934T>G g.110218129T>G 1934_1937delinsGAAG - IFT81_000014 - PubMed: Ashraf 2020, Journal: Ashraf 2020 - - Germline ? - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-I blood WES SRTD FAM1Pat:3 PubMed: Ashraf 2020, Journal: Ashraf 2020 2-generation family, one affected male, unaffected heterozygous carrier parents M no Romania - >11y - - - 1 Jens Doets
?/. - c.1937T>G r.(?) - Parent #1 - VUS (!) g.110655937T>G - 1934_1937delinsGAAG - IFT81_000015 variant not translated because of upstream translational stop PubMed: Ashraf 2020, Journal: Ashraf 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-I blood WES SRTD FAM1Pat:3 PubMed: Ashraf 2020, Journal: Ashraf 2020 2-generation family, one affected male, unaffected heterozygous carrier parents M no Romania - >11y - - - 1 Jens Doets
?/. - c.1954T>C r.(?) p.(Cys652Arg) Unknown - VUS g.110655954T>C - IFT81(NM_014055.4):c.1954T>C (p.(Cys652Arg)) - IFT81_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1968A>G r.(?) p.(Gln656=) Unknown - likely benign g.110655968A>G g.110218163A>G IFT81(NM_014055.4):c.1968A>G (p.Q656=) - IFT81_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1969C>T r.(?) p.(Gln657*) Both (homozygous) ACMG likely pathogenic g.110655969C>T g.110218164C>T IFT81, c.1969C>T, p.Gln657*, homozygous - IFT81_000022 - PubMed: Perea-Romero 2021 - - Germline yes - - - - DNA ? - clinical exome sequencing retinal disease RP-0132 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+/. - c.2015_2019del r.(?) p.(Asp672Alafs*15) Both (homozygous) - pathogenic (recessive) g.110656015_110656019del g.110218210_110218214del - - IFT81_000013 - PubMed: Perreault 2015, Journal: Perrault 2015 - - Germline ? - - - - DNA SEQ, SEQ-NG-I Blood - RD Fam2PatNCK-033 PubMed: Perreault 2015, Journal: Perrault 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Algeria - >11y - - - 1 Jens Doets
?/. - c.2015_2019del r.(?) p.(Asp672Alafs*15) Unknown - VUS g.110656015_110656019del - IFT81(NM_014055.4):c.2015_2019del (p.(Asp672Alafs*15)) - IFT81_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2023del r.(?) p.(Ile675TyrfsTer23) Unknown - pathogenic g.110656023del - IFT81(NM_014055.3):c.2023delA (p.I675Yfs*23) - IFT81_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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