All variants in the IFT172 gene

Information The variants shown are described using the NM_015662.1 transcript reference sequence.

279 entries on 3 pages. Showing entries 1 - 100.
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Effect     

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     
?/. - c.-34368661_*66891dup r.0? p.0? - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - LOVD
?/. - c.-4439dup r.(?) p.(=) - VUS g.27716959dup g.27494092dup FNDC4(NM_022823.3):c.292dupA (p.T98Nfs*13) - FNDC4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-4429G>A r.(?) p.(=) - VUS g.27716949C>T - FNDC4(NM_022823.2):c.302G>A (p.(Arg101Gln)) - FNDC4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-4368C>A r.(?) p.(=) - likely benign g.27716888G>T - FNDC4(NM_022823.3):c.363C>A (p.(Ile121=)) - FNDC4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-3038A>G r.(?) p.(=) - likely benign g.27715558T>C - FNDC4(NM_022823.2):c.644A>G (p.(Gln215Arg)) - FNDC4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.40-6C>G r.(=) p.(=) - benign g.27708376G>C g.27485509G>C IFT172(NM_015662.3):c.40-6C>G - IFT172_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.59C>T r.(?) p.(Thr20Ile) - VUS g.27708351G>A - IFT172(NM_015662.3):c.59C>T (p.(Thr20Ile)) - IFT172_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.112C>T r.(?) p.(Arg38Ter) - likely pathogenic g.27708298G>A g.27485431G>A IFT172(NM_015662.3):c.112C>T (p.R38*) - IFT172_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.113G>A r.(?) p.(Arg38Gln) - VUS g.27708297C>T g.27485430C>T IFT172(NM_015662.1):c.113G>A (p.(Arg38Gln)) - IFT172_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.153T>G r.(?) p.(Asp51Glu) ACMG VUS g.27708257A>C g.27485390A>C - - IFT172_000177 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - Johan den Dunnen
-/. - c.184-11del r.(=) p.(=) - benign g.27708020del g.27485153del IFT172(NM_015662.3):c.184-11delT - IFT172_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.202A>G r.(?) p.(Met68Val) - VUS g.27707979T>C g.27485112T>C - - IFT172_000069 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 5/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. - c.258T>C r.(?) p.(=) - likely benign g.27707923A>G - IFT172(NM_015662.3):c.258T>C (p.T86=) - IFT172_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.336G>A r.(?) p.(=) - VUS g.27707094C>T - IFT172(NM_015662.3):c.336G>A (p.(Thr112=)) - IFT172_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.337-5C>T r.spl? p.? - VUS g.27706809G>A g.27483942G>A - - IFT172_000068 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs141086523 Germline - 7/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/. - c.337-2A>C r.spl p.(?) - likely pathogenic (recessive) g.27706806T>G g.27483939T>G IFT172 c.337-2A C, p.(?) - IFT172_000156 heterozygous PubMed: Lucas-Herald 2015 - - Germline yes - - - - LOVD
?/. - c.347C>T r.(?) p.(Thr116Ile) - VUS g.27706794G>A - IFT172(NM_015662.2):c.347C>T (p.T116I) - IFT172_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.406C>T r.(?) p.(Arg136Cys) - VUS g.27706523G>A g.27483656G>A - - IFT172_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.425C>T r.(?) p.(Thr142Ile) - VUS g.27706504G>A g.27483637G>A IFT172(NM_015662.2):c.425C>T (p.T142I) - IFT172_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.430del r.(?) p.(Lys144Asnfs*15) - likely pathogenic (recessive) g.27706499del g.27483632del IFT172 c.432delA, p.Lys144Asnfs*15 - IFT172_000155 heterozygous PubMed: Halbritter 2013 - - Germline yes - - - - LOVD
?/. - c.442A>G r.(?) p.(Ile148Val) - VUS g.27706487T>C g.27483620T>C IFT172(NM_015662.3):c.442A>G (p.I148V) - IFT172_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.449G>C r.(?) p.(Gly150Ala) - likely benign g.27706480C>G - IFT172(NM_015662.1):c.449G>C (p.(Gly150Ala)), IFT172(NM_015662.2):c.449G>C (p.G150A) - IFT172_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.449G>C r.(?) p.(Gly150Ala) - likely benign g.27706480C>G - IFT172(NM_015662.1):c.449G>C (p.(Gly150Ala)), IFT172(NM_015662.2):c.449G>C (p.G150A) - IFT172_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.509G>C r.(?) p.(Gly170Ala) - VUS g.27706217C>G - IFT172(NM_015662.3):c.509G>C (p.(Gly170Ala)) - IFT172_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.521G>T r.(?) p.(Gly174Val) - VUS g.27706205C>A - IFT172(NM_015662.1):c.521G>T (p.(Gly174Val)) - IFT172_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.548A>T r.(?) p.(Asp183Val) - VUS g.27706178T>A - IFT172(NM_015662.3):c.548A>T (p.D183V) - IFT172_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.571-1G>A r.spl? p.? - pathogenic g.27704128C>T g.27481261C>T - - IFT172_000067 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs775935517 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. - c.666T>C r.(?) p.(Tyr222=) - likely benign g.27704032A>G g.27481165A>G IFT172(NM_015662.2):c.666T>C (p.Y222=), IFT172(NM_015662.3):c.666T>C (p.Y222=) - IFT172_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.666T>C r.(?) p.(Tyr222=) - benign g.27704032A>G g.27481165A>G IFT172(NM_015662.2):c.666T>C (p.Y222=), IFT172(NM_015662.3):c.666T>C (p.Y222=) - IFT172_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.698A>G r.(?) p.(Asp233Gly) - VUS g.27704000T>C - IFT172(NM_015662.3):c.698A>G (p.(Asp233Gly)) - IFT172_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.706C>T r.(?) p.(Arg236Cys) - VUS g.27703992G>A g.27481125G>A - - IFT172_000066 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs146290725 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.722G>A r.(?) p.(Arg241Gln) - VUS g.27703976C>T g.27481109C>T IFT172(NM_015662.2):c.722G>A (p.R241Q) - IFT172_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.770T>C r.(?) p.(Leu257Pro) - likely pathogenic (recessive) g.27703928A>G g.27481061A>G IFT172 c.770T>C, p.L257P - IFT172_000154 heterozygous; IFT172 mislocalization; functionally null mutation PubMed: Bujakowska 2015 - - Germline yes - - - - LOVD
?/. 8 c.770T>C r.(?) p.(Leu257Pro) - VUS g.27703928A>G - c.770T>C - IFT172_000154 - PubMed: Panneman 2023 - - Unknown - - - - - Daan Panneman
-/. - c.786-12A>G r.(=) p.(=) - benign g.27703028T>C g.27480161T>C IFT172(NM_015662.3):c.786-12A>G - IFT172_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.790C>T r.(?) p.(Arg264Trp) - VUS g.27703012G>A g.27480145G>A - - IFT172_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.792G>A r.(?) p.(Arg264=) - benign g.27703010C>T g.27480143C>T IFT172(NM_015662.3):c.792G>A (p.R264=) - IFT172_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.877G>A r.(?) p.(Ala293Thr) - VUS g.27702925C>T - IFT172(NM_015662.2):c.877G>A (p.A293T), IFT172(NM_015662.3):c.877G>A (p.A293T) - IFT172_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.877G>A r.(?) p.(Ala293Thr) - VUS g.27702925C>T - IFT172(NM_015662.2):c.877G>A (p.A293T), IFT172(NM_015662.3):c.877G>A (p.A293T) - IFT172_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.886C>T r.(?) p.(Arg296Trp) - pathogenic g.27702916G>A - IFT172(NM_015662.3):c.886C>T (p.R296W) - IFT172_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.886C>T r.(?) p.(Arg296Trp) - likely pathogenic (recessive) g.27702916G>A g.27480049G>A IFT172 c.886C>T, p.Arg296Trp - IFT172_000117 homozygous PubMed: Halbritter 2013 - - Unknown ? - - - - LOVD
-?/. - c.899G>A r.(?) p.(Arg300Gln) - likely benign g.27702903C>T g.27480036C>T IFT172(NM_015662.3):c.899G>A (p.R300Q) - IFT172_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.953G>A r.(?) p.(Arg318Gln) - VUS g.27702428C>T - IFT172(NM_015662.1):c.953G>A (p.(Arg318Gln)) - IFT172_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1054C>T r.(?) p.(His352Tyr) - VUS g.27700975G>A g.27478108G>A IFT172(NM_015662.1):c.1054C>T (p.(His352Tyr)) - IFT172_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1064A>G r.(?) p.(Tyr355Cys) - VUS g.27700965T>C - IFT172(NM_015662.3):c.1064A>G (p.(Tyr355Cys)) - IFT172_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1156C>T r.(?) p.(Arg386Trp) - likely pathogenic g.27700873G>A g.27478006G>A IFT172 c.1156C>T p.(Arg386Trp) - IFT172_000130 homozygous PubMed: Méjécase 2020 - - Unknown ? - - - - LOVD
-?/. - c.1157G>A r.(?) p.(Arg386Gln) - likely benign g.27700872C>T g.27478005C>T IFT172(NM_015662.2):c.1157G>A (p.R386Q) - IFT172_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1168-7G>A r.(=) p.(=) - benign g.27700486C>T g.27477619C>T IFT172(NM_015662.2):c.1168-7G>A, IFT172(NM_015662.3):c.1168-7G>A - IFT172_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1168-7G>A r.(=) p.(=) - likely benign g.27700486C>T - IFT172(NM_015662.2):c.1168-7G>A, IFT172(NM_015662.3):c.1168-7G>A - IFT172_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1232T>A r.(?) p.(Ile411Asn) - likely pathogenic (recessive) g.27700177A>T g.27477310A>T IFT172 c.1232T>A, p.Ile411Asn - IFT172_000153 homozygous PubMed: Halbritter 2013 - - Germline yes - - - - LOVD
+?/. - c.1232T>A r.(?) p.(Ile411Asn) - likely pathogenic (recessive) g.27700177A>T g.27477310A>T IFT172 c.1232T>A, p.Ile411Asn - IFT172_000153 homozygous PubMed: Halbritter 2013 - - Unknown ? - - - - LOVD
-/. - c.1338T>C r.(?) p.(Asn446=) - benign g.27699581A>G - IFT172(NM_015662.3):c.1338T>C (p.N446=) - IFT172_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1386_1391del r.(?) p.(Asp464_Ile465del) - likely pathogenic (recessive) g.27699528_27699533del g.27476661_27476666del IFT172 c.1390_1395delGATATT, p.Asp464_Ile465del - IFT172_000152 heterozygous PubMed: Halbritter 2013 - - Unknown ? - - - - LOVD
-?/. - c.1401T>C r.(?) p.(Thr467=) - likely benign g.27699518A>G - IFT172(NM_015662.3):c.1401T>C (p.T467=) - IFT172_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1414G>A r.(?) p.(Asp472Asn) - VUS g.27695227C>T g.27472360C>T IFT172(NM_015662.1):c.1414G>A (p.(Asp472Asn)) - IFT172_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1426G>A r.(?) p.(Gly476Ser) - VUS g.27695215C>T g.27472348C>T IFT172(NM_015662.2):c.1426G>A (p.G476S), IFT172(NM_015662.3):c.1426G>A (p.(Gly476Ser)) - IFT172_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1426G>A r.(?) p.(Gly476Ser) - VUS g.27695215C>T - IFT172(NM_015662.2):c.1426G>A (p.G476S), IFT172(NM_015662.3):c.1426G>A (p.(Gly476Ser)) - IFT172_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1433A>T r.(?) p.(Asn478Ile) - likely benign g.27695208T>A g.27472341T>A IFT172(NM_015662.1):c.1433A>T (p.(Asn478Ile)), IFT172(NM_015662.3):c.1433A>T (p.N478I) - IFT172_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1433A>T r.(?) p.(Asn478Ile) - likely benign g.27695208T>A - IFT172(NM_015662.1):c.1433A>T (p.(Asn478Ile)), IFT172(NM_015662.3):c.1433A>T (p.N478I) - IFT172_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1433A>T r.(?) p.(Asn478Ile) - likely benign g.27695208T>A - IFT172(NM_015662.1):c.1433A>T (p.(Asn478Ile)), IFT172(NM_015662.3):c.1433A>T (p.N478I) - IFT172_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1478T>G r.(?) p.(Leu493Arg) - likely pathogenic g.27695163A>C g.27472296A>C IFT172 p.L493R, p.H719Y - IFT172_000129 - PubMed: Hirano 2020 - - Germline ? - - - - LOVD
?/. - c.1487C>G r.(?) p.(Thr496Ser) - VUS g.27695154G>C g.27472287G>C IFT172(NM_015662.3):c.1487C>G (p.T496S) - IFT172_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1497G>T r.(?) p.(Lys499Asn) - VUS g.27695144C>A g.27472277C>A - - IFT172_000065 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. - c.1525-19C>T r.(=) p.(=) - benign g.27693981G>A g.27471114G>A IFT172(NM_015662.3):c.1525-19C>T - IFT172_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1525-6C>G r.(=) p.(=) - benign g.27693968G>C g.27471101G>C IFT172(NM_015662.2):c.1525-6C>G, IFT172(NM_015662.3):c.1525-6C>G - IFT172_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1525-6C>G r.(=) p.(=) - likely benign g.27693968G>C g.27471101G>C IFT172(NM_015662.2):c.1525-6C>G, IFT172(NM_015662.3):c.1525-6C>G - IFT172_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1525-6C>G r.(=) p.(=) - likely benign g.27693968G>C - IFT172(NM_015662.2):c.1525-6C>G, IFT172(NM_015662.3):c.1525-6C>G - IFT172_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1525-6C>G r.(=) p.(=) - VUS g.27693968G>C - IFT172(NM_015662.2):c.1525-6C>G, IFT172(NM_015662.3):c.1525-6C>G - IFT172_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1525-1G>A r.spl p.? - likely pathogenic (recessive) g.27693963C>T g.27471096C>T IFT172 c.1525-1G>A, p.? - IFT172_000151 heterozygous; exon skipping PubMed: Bujakowska 2015 - - Germline yes - - - - LOVD
+?/. - c.1525-1G>A r.spl p.? - likely pathogenic (recessive) g.27693963C>T g.27471096C>T IFT172 c.1525-1G>A, p.? - IFT172_000151 heterozygous; exon skipping PubMed: Bujakowska 2015 - - Germline yes - - - - LOVD
?/. 16 c.1529A>G r.(?) p.(His510Arg) - VUS g.27693958T>C - c.1529A>G - IFT172_000169 - PubMed: Panneman 2023 - - Unknown - - - - - Daan Panneman
?/. - c.1591T>C r.(?) p.(Trp531Arg) ACMG VUS g.27693896A>G g.27471029A>G - - IFT172_000176 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - Johan den Dunnen
-?/. - c.1632C>T r.(?) p.(=) - likely benign g.27693855G>A - IFT172(NM_015662.3):c.1632C>T (p.N544=) - IFT172_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1655T>C r.(?) p.(Ile552Thr) - VUS g.27693832A>G g.27470965A>G IFT172(NM_015662.2):c.1655T>C (p.I552T) - IFT172_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1655T>C r.(?) p.(Ile552Thr) - VUS g.27693832A>G g.27470965A>G - - IFT172_000036 - PubMed: Tomas-Roca 2015 - - De novo - - - - - Johan den Dunnen
-/. - c.1662A>C r.(?) p.(Ala554=) - benign g.27693825T>G g.27470958T>G IFT172(NM_015662.3):c.1662A>C (p.A554=) - IFT172_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1666_1667dup r.(?) p.(Val558Glufs*12) - likely pathogenic (recessive) g.27693820_27693821dup g.27470953_27470954dup IFT172 c.1671_1672dupAG, p.Val558Glufs*12 - IFT172_000150 heterozygous PubMed: Halbritter 2013 - - Germline yes - - - - LOVD
?/. - c.1678A>G r.(?) p.(Met560Val) - VUS g.27693809T>C g.27470942T>C - - IFT172_000064 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs763516858 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. - c.1685C>G r.(?) p.(Thr562Ser) - benign g.27693802G>C g.27470935G>C IFT172(NM_015662.1):c.1685C>G (p.(Thr562Ser)), IFT172(NM_015662.2):c.1685C>G (p.T562S), IFT172(NM_015662.3):c.1685C>G (p.T562S) - IFT172_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1685C>G r.(?) p.(Thr562Ser) - likely benign g.27693802G>C g.27470935G>C IFT172(NM_015662.1):c.1685C>G (p.(Thr562Ser)), IFT172(NM_015662.2):c.1685C>G (p.T562S), IFT172(NM_015662.3):c.1685C>G (p.T562S) - IFT172_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1685C>G r.(?) p.(Thr562Ser) - benign g.27693802G>C g.27470935G>C IFT172(NM_015662.1):c.1685C>G (p.(Thr562Ser)), IFT172(NM_015662.2):c.1685C>G (p.T562S), IFT172(NM_015662.3):c.1685C>G (p.T562S) - IFT172_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1685C>G r.(?) p.(Thr562Ser) - likely benign g.27693802G>C g.27470935G>C IFT172(NM_015662.1):c.1685C>G (p.(Thr562Ser)), IFT172(NM_015662.2):c.1685C>G (p.T562S), IFT172(NM_015662.3):c.1685C>G (p.T562S) - IFT172_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1685C>G r.(?) p.(Thr562Ser) - likely benign g.27693802G>C g.27470935G>C IFT172(NM_015662.1):c.1685C>G (p.(Thr562Ser)), IFT172(NM_015662.2):c.1685C>G (p.T562S), IFT172(NM_015662.3):c.1685C>G (p.T562S) - IFT172_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1802C>T r.(?) p.(Thr601Ile) - VUS g.27688640G>A - IFT172(NM_015662.3):c.1802C>T (p.(Thr601Ile)) - IFT172_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1805C>G r.(?) p.(Ala602Gly) - VUS g.27688637G>C g.27465770G>C - - IFT172_000063 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.1834A>T r.(?) p.(Thr612Ser) - VUS g.27688381T>A g.27465514T>A - - IFT172_000062 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.1879A>G r.(?) p.(Met627Val) - VUS g.27688336T>C - IFT172(NM_015662.3):c.1879A>G (p.(Met627Val)) - IFT172_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1931C>A r.(?) p.(Ala644Glu) - likely pathogenic g.27688284G>T g.27465417G>T - - IFT172_000119 - PubMed: Stone 2017 - - Germline - - - - - LOVD
?/. - c.1937G>A r.(?) p.(Arg646Lys) - VUS g.27688278C>T - IFT172(NM_015662.3):c.1937G>A (p.R646K) - IFT172_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1969G>A r.(?) p.(Ala657Thr) - VUS g.27686017C>T g.27463150C>T - - IFT172_000061 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. - c.1991A>G r.(?) p.(Asn664Ser) - likely benign g.27685995T>C - IFT172(NM_015662.1):c.1991A>G (p.(Asn664Ser)) - IFT172_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2014C>T r.(?) p.(Arg672Trp) - VUS g.27685972G>A g.27463105G>A - - IFT172_000060 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201921339 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.2015G>A r.(?) p.(Arg672Gln) - VUS g.27685971C>T g.27463104C>T IFT172(NM_015662.1):c.2015G>A (p.(Arg672Gln)), IFT172(NM_015662.2):c.2015G>A (p.R672Q), IFT172(NM_015662.3):c.2015G>A (p.R672Q) - IFT172_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2015G>A r.(?) p.(Arg672Gln) - likely benign g.27685971C>T g.27463104C>T IFT172(NM_015662.1):c.2015G>A (p.(Arg672Gln)), IFT172(NM_015662.2):c.2015G>A (p.R672Q), IFT172(NM_015662.3):c.2015G>A (p.R672Q) - IFT172_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2015G>A r.(?) p.(Arg672Gln) - likely benign g.27685971C>T - IFT172(NM_015662.1):c.2015G>A (p.(Arg672Gln)), IFT172(NM_015662.2):c.2015G>A (p.R672Q), IFT172(NM_015662.3):c.2015G>A (p.R672Q) - IFT172_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.2053C>T r.(?) p.(Arg685*) - likely pathogenic g.27685630G>A g.27462763G>A IFT172(NM_015662.1):c.2053C>T(p.R685*)/c.5071T>C(p.Y1691H) - IFT172_000158 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 199 - - - LOVD
?/. - c.2054G>T r.(?) p.(Arg685Leu) - VUS g.27685629C>A - IFT172(NM_015662.1):c.2054G>T (p.(Arg685Leu)) - IFT172_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2122G>A r.(?) p.(Val708Met) - VUS g.27684697C>T - IFT172(NM_015662.1):c.2122G>A (p.(Val708Met)) - IFT172_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2155C>T r.(?) p.(His719Tyr) - VUS g.27684664G>A g.27461797G>A - - IFT172_000059 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs144645349 Germline - 10/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/. - c.2155C>T r.(?) p.(His719Tyr) - likely pathogenic g.27684664G>A g.27461797G>A IFT172 p.L493R, p.H719Y - IFT172_000059 - PubMed: Hirano 2020 - - Germline ? - - - - LOVD
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