Unique variants in the IFT43 gene

Information The variants shown are described using the NM_052873.2 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.-5018G>C r.(?) p.(=) - VUS g.76447112G>C - TGFB3(NM_003239.5):c.125C>G (p.A42G) - IFT43_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.-4989G>A r.(?) p.(=) - likely benign g.76447141G>A g.75980798G>A TGFB3(NM_003239.2):c.96C>T (p.F32=) - TGFB3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-4975T>G r.(?) p.(=) - VUS g.76447155T>G g.75980812T>G TGFB3(NM_001329939.1):c.82A>C (p.T28P) - IFT43_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.-4932G>A r.(?) p.(=) - benign g.76447198G>A g.75980855G>A TGFB3(NM_001329939.1):c.39C>T (p.A13=), TGFB3(NM_003239.5):c.39C>T (p.A13=) - TGFB3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/. 1 - c.-4920del r.(?) p.(=) - pathogenic g.76447210del - TGFB3(NM_003239.5):c.28delG (p.V10Wfs*6) - IFT43_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 2 - c.1A>G r.(?) p.(Met1?) - pathogenic (recessive) g.76452130A>G g.75985787A>G - - IFT43_000022 - PubMed: Arts 2011 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.2T>A r.(?) p.(Met1?) - pathogenic (recessive) g.76452131T>A g.75985788T>A - - IFT43_000023 - PubMed: Duran 2017 - - Germline - - - - - Johan den Dunnen
+?/. 1 1 c.8A>G r.(?) p.(Asp3Gly) - likely pathogenic (recessive) g.76452137A>G - NM_052873.2:c.8A>G - IFT43_000033 - PubMed: Zhang-2019 - - Germline - - - - - LOVD
-?/. 1 - c.10T>A r.(?) p.(Leu4Met) - likely benign g.76452139T>A - IFT43(NM_001255995.1):c.10T>A (p.L4M) - IFT43_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.16G>C r.(?) p.(Asp6His) - likely benign g.76452145G>C g.75985802G>C IFT43(NM_001102564.1):c.16G>C (p.(Asp6His)) - IFT43_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.21G>A r.(?) p.(Leu7=) - likely benign g.76452150G>A - IFT43(NM_001255995.1):c.21G>A (p.L7=) - IFT43_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.54+19G>C r.(=) p.(=) - likely benign g.76452202G>C - IFT43(NM_001255995.3):c.54+19G>C - IFT43_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.55-17T>C r.(=) p.(=) - likely benign g.76455211T>C - IFT43(NM_001255995.3):c.55-17T>C - IFT43_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.55-2A>G r.spl? p.? - VUS g.76455226A>G g.75988883A>G IFT43(NM_052873.2):c.55-2A>G - IFT43_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 - c.100G>A r.(?) p.(Glu34Lys) - pathogenic (dominant), pathogenic (recessive) g.76455273G>A g.75988930G>A - - IFT43_000025 - PubMed: Biswas 2017 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.108C>T r.(?) p.(His36=) - likely benign g.76455281C>T - IFT43(NM_001255995.1):c.108C>T (p.H36=) - IFT43_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.148-15T>C r.(=) p.(=) - likely benign g.76488655T>C - IFT43(NM_052873.3):c.148-15T>C - IFT43_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.148-2A>C r.spl? p.? - likely pathogenic g.76488668A>C g.76022325A>C IFT43(NM_001102564.1):c.148-2A>C (p.?) - IFT43_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.169C>T r.(?) p.(Arg57Cys) - likely benign, VUS g.76488691C>T g.76022348C>T IFT43(NM_001102564.1):c.169C>T (p.(Arg57Cys)), IFT43(NM_001255995.1):c.169C>T (p.R57C) - IFT43_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 1 - c.216-17972T>G r.(=) p.(=) - benign g.76524968T>G - IFT43(NM_001255995.3):c.216-17T>G - IFT43_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.216-17960T>C r.(=) p.(=) - benign g.76524980T>C g.76058637T>C IFT43(NM_001255995.2):c.216-5T>C - IFT43_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.216-17959del r.(=) p.(=) - benign g.76524981del g.76058638del IFT43(NM_001255995.2):c.216-4delT, IFT43(NM_001255995.3):c.216-4delT - IFT43_000001, IFT43_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.216-17958C>T r.(=) p.(=) - likely benign g.76524982C>T g.76058639C>T IFT43(NM_001102564.1):c.216-3C>T (p.?) - IFT43_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.216-17958_216-17955del r.(=) p.(=) - likely benign g.76524982_76524985del g.76058639_76058642del IFT43(NM_001102564.1):c.216-3_216del (p.?) - IFT43_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.216-17952_216-17951insTTTT r.(=) p.(=) - likely benign g.76524988_76524989insTTTT g.76058645_76058646insTTTT IFT43(NM_001102564.1):c.216_217insTTTT (p.(Arg74PhefsTer2)) - IFT43_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.216-17918G>A r.(=) p.(=) - VUS g.76525022G>A - IFT43(NM_001102564.1):c.248+5G>A (p.?) - IFT43_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.216-17266C>T r.(=) p.(=) - likely benign g.76525674C>T - IFT43(NM_001102564.1):c.253C>T (p.(Arg85Cys)) - IFT43_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.216-17248C>G r.(=) p.(=) - likely benign g.76525692C>G - IFT43(NM_001102564.1):c.271C>G (p.L91V) - IFT43_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.253G>A r.(?) p.(Ala85Thr) - VUS g.76542977G>A - IFT43(NM_052873.2):c.253G>A (p.A85T) - IFT43_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.280G>A r.(?) p.(Asp94Asn) - benign g.76543004G>A g.76076661G>A IFT43(NM_052873.2):c.280G>A (p.D94N) - IFT43_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.287G>A r.(?) p.(Gly96Glu) - likely benign g.76543011G>A - IFT43(NM_052873.2):c.287G>A (p.(Gly96Glu)) - IFT43_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.300G>A r.(?) p.(Leu100=) - likely benign g.76543024G>A g.76076681G>A IFT43(NM_052873.2):c.300G>A (p.L100=) - IFT43_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.310+2T>C r.spl? p.? - VUS g.76543036T>C - IFT43(NM_052873.3):c.310+2T>C - IFT43_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 3 - c.310+4G>C r.spl? p.? - likely benign g.76543038G>C - IFT43(NM_052873.2):c.310+4G>C, IFT43(NM_052873.3):c.310+4G>C - IFT43_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.337G>A r.(?) p.(Glu113Lys) - VUS g.76548664G>A - IFT43(NM_001102564.1):c.322G>A (p.(Glu108Lys)) - IFT43_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 - c.343C>T r.(?) p.(Gln115Ter) - pathogenic g.76548670C>T g.76082327C>T IFT43(NM_001102564.1):c.328C>T (p.(Gln110*)), IFT43(NM_052873.2):c.343C>T (p.Q115*) - IFT43_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.379C>T r.(?) p.(Pro127Ser) - VUS g.76548706C>T - IFT43(NM_001102564.3):c.364C>T (p.(Pro122Ser)) - IFT43_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.383+14G>C r.(=) p.(=) - likely benign g.76548724G>C g.76082381G>C IFT43(NM_052873.2):c.383+14G>C - IFT43_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.384-8del r.(=) p.(=) - likely benign g.76548952del - IFT43(NM_052873.2):c.384-8delT - IFT43_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 2 - c.388C>T r.(?) p.(Gln130Ter) - likely pathogenic, VUS g.76548964C>T g.76082621C>T IFT43(NM_001102564.1):c.373C>T (p.(Gln125*)), IFT43(NM_052873.3):c.388C>T (p.Q130*) - IFT43_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
?/. 2 - c.397C>T r.(?) p.(Arg133Trp) - VUS g.76548973C>T g.76082630C>T IFT43(NM_001102564.1):c.382C>T (p.(Arg128Trp)), IFT43(NM_052873.3):c.397C>T (p.R133W) - IFT43_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 2 - c.423C>T r.(?) p.(Asp141=) - likely benign g.76548999C>T g.76082656C>T IFT43(NM_052873.2):c.423C>T (p.D141=), IFT43(NM_052873.3):c.423C>T (p.D141=) - IFT43_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.483C>T r.(?) p.(Leu161=) - likely benign g.76549593C>T - IFT43(NM_052873.2):c.483C>T (p.L161=) - IFT43_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.501G>A r.(?) p.(Ala167=) - benign g.76549611G>A - IFT43(NM_052873.3):c.501G>A (p.A167=) - IFT43_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.503C>T r.(?) p.(Pro168Leu) - VUS g.76549613C>T g.76083270C>T IFT43(NM_052873.2):c.503C>T (p.P168L) - IFT43_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.504G>A r.(?) p.(=) - likely benign g.76549614G>A - IFT43(NM_052873.3):c.504G>A (p.P168=) - IFT43_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.535T>C r.(?) p.(Trp179Arg) - pathogenic (recessive) g.76549813T>C g.76083470T>C - - IFT43_000024 - PubMed: Duran 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.587G>A r.(?) p.(Trp196*) - VUS g.76549865G>A - IFT43(NM_001102564.3):c.572G>A (p.(Trp191*)) - IFT43_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.598C>T r.(?) p.(Gln200*) - VUS g.76549876C>T - IFT43(NM_001102564.3):c.583C>T (p.(Gln195Ter)), IFT43(NM_052873.2):c.598C>T (p.Q200*) - IFT43_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
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