Full data view for gene IFT122

Information The variants shown are described using the NM_052985.2 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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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.-3760A>G r.(?) p.(=) Unknown - likely benign g.129155414A>G g.129436571A>G MBD4(NM_001276270.1):c.1073T>C (p.(Ile358Thr)) - MBD4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-3504C>T r.(?) p.(=) Unknown - benign g.129155670C>T - MBD4(NM_003925.2):c.817G>A (p.A273T) - MBD4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.21G>C r.(?) p.(Trp7Cys) Paternal (inferred) - pathogenic g.129177460G>C - c.G21C, p.W7C - IFT122_000001 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Walczak-Sztulpa 2010 - - De novo - - - 0 - DNA SEQ - - dysplasia, cranioectodermal, type 1 - - - M - ? (unknown) - - 0 - - 1 LOVD
-?/. - c.93C>T r.(?) p.(Ala31=) Unknown - likely benign g.129168765C>T - IFT122(NM_052985.3):c.93C>T (p.A31=) - IFT122_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.109-15T>C r.(=) p.(=) Unknown - benign g.129170742T>C g.129451899T>C IFT122(NM_052985.3):c.109-15T>C, IFT122(NM_052985.4):c.109-15T>C - IFT122_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.109-15T>C r.(=) p.(=) Unknown - benign g.129170742T>C g.129451899T>C IFT122(NM_052985.3):c.109-15T>C, IFT122(NM_052985.4):c.109-15T>C - IFT122_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.194-2327C>T r.(=) p.(=) Unknown - likely benign g.129175115C>T - IFT122(NM_001280545.1):c.-258+8C>T (p.(=)) - IFT122_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-4T>C r.spl? p.? Unknown - likely benign g.129177438T>C g.129458595T>C IFT122(NM_052985.3):c.194-4T>C - IFT122_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.214T>G r.(?) p.(Ser72Ala) Unknown - likely benign g.129177462T>G g.129458619T>G IFT122(NM_001280541.1):c.214T>G (p.(Ser72Ala)) - IFT122_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.272+1G>A r.spl? p.? Unknown - pathogenic g.129177521G>A g.129458678G>A IFT122(NM_052985.4):c.272+1G>A - IFT122_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.344C>T r.(?) p.(Thr115Ile) Unknown - likely benign g.129179768C>T g.129460925C>T IFT122(NM_001280541.1):c.344C>T (p.(Thr115Ile)) - IFT122_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.390C>A r.(?) p.(Cys130Ter) Unknown - pathogenic g.129179814C>A g.129460971C>A IFT122(NM_052985.3):c.390C>A (p.C130*) - IFT122_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.427C>T r.(?) p.(His143Tyr) Unknown - VUS g.129180072C>T g.129461229C>T IFT122(NM_052985.3):c.427C>T (p.H143Y) - IFT122_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.440T>A r.(?) p.(Ile147Lys) Unknown - VUS g.129180085T>A g.129461242T>A IFT122(NM_001280541.1):c.440T>A (p.(Ile147Lys)) - IFT122_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.474A>G r.(?) p.(Gln158=) Unknown - likely benign g.129180119A>G g.129461276A>G IFT122(NM_052985.3):c.474A>G (p.Q158=), IFT122(NM_052985.4):c.474A>G (p.Q158=) - IFT122_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.474A>G r.(?) p.(Gln158=) Unknown - likely benign g.129180119A>G g.129461276A>G IFT122(NM_052985.3):c.474A>G (p.Q158=), IFT122(NM_052985.4):c.474A>G (p.Q158=) - IFT122_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 6i c.502+5G>A r.(?) p.? Maternal (confirmed) - likely pathogenic g.129180152G>A g.129461309G>A p.H143VfsX147 - IFT122_000002 - PubMed: Walczak-Sztulpa 2010 - - Germline - - - 0 - DNA SEQ - - dysplasia, cranioectodermal, type 1 - - - M - ? (unknown) - - 0 - - 1 LOVD
-?/. - c.605T>C r.(?) p.(Met202Thr) Unknown - likely benign g.129183513T>C g.129464670T>C IFT122(NM_001280541.1):c.605T>C (p.(Met202Thr)) - IFT122_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.628C>T r.(?) p.(Arg210Trp) Parent #1 - VUS g.129183536C>T g.129464693C>T - - IFT122_000061 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140547512 Germline - 3/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
?/. - c.631A>G r.(?) p.(Asn211Asp) Unknown - VUS g.129183539A>G - IFT122(NM_052985.3):c.631A>G (p.N211D) - IFT122_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.718C>T r.(?) p.(Arg240Ter) Unknown - likely pathogenic g.129185734C>T g.129466891C>T IFT122(NM_052985.4):c.718C>T (p.R240*) - IFT122_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.718C>T r.(?) p.(Arg240Ter) Unknown - VUS g.129185734C>T - IFT122(NM_052985.4):c.718C>T (p.R240*) - IFT122_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770T>C r.(?) p.(Ile257Thr) Unknown - likely benign g.129185786T>C - IFT122(NM_052985.3):c.770T>C (p.I257T) - IFT122_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.893+15G>A r.(=) p.(=) Unknown - benign g.129185924G>A g.129467081G>A IFT122(NM_052985.3):c.893+15G>A - IFT122_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.893+15G>A r.(=) p.(=) Unknown - benign g.129185924G>A g.129467081G>A IFT122(NM_052985.3):c.893+15G>A - IFT122_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.978G>T r.(?) p.(Lys326Asn) Unknown - VUS g.129195166G>T g.129476323G>T IFT122(NM_052985.3):c.978G>T (p.K326N) - IFT122_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.978G>T r.(?) p.(Lys326Asn) Parent #1 - likely benign g.129195166G>T g.129476323G>T - - IFT122_000016 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117517364 Germline - 12/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 12 Mohammed Faruq
-?/. - c.983G>A r.(?) p.(Arg328Gln) Unknown - likely benign g.129195171G>A g.129476328G>A IFT122(NM_001280541.1):c.806G>A (p.(Arg269Gln)) - IFT122_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1081G>A r.(?) p.(Asp361Asn) Unknown - VUS g.129195269G>A g.129476426G>A IFT122(NM_052985.3):c.1081G>A (p.D361N) - IFT122_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 11 c.1118C>T r.(?) p.(Ser373Phe) Paternal (inferred) - pathogenic g.129195306C>T g.129476463C>T c.C1118T, p.S373F - IFT122_000003 - PubMed: Walczak-Sztulpa 2010 - - Germline - - - 0 - DNA SEQ - - dysplasia, cranioectodermal, type 1 - - - M - ? (unknown) - - 0 - - 1 LOVD
+/? 11 c.1118C>T r.(?) p.(Ser373Phe) Maternal (inferred) - pathogenic g.129195306C>T g.129476463C>T c.C1118T, p.S373F - IFT122_000003 - PubMed: Walczak-Sztulpa 2010 - - Germline - - - 0 - DNA SEQ - - dysplasia, cranioectodermal, type 1 - - - M - ? (unknown) - - 0 - - 1 LOVD
-?/. - c.1179C>T r.(?) p.(Asp393=) Unknown - likely benign g.129195523C>T g.129476680C>T IFT122(NM_052985.3):c.1179C>T (p.D393=) - IFT122_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1256G>A r.(?) p.(Ser419Asn) Unknown - likely benign g.129195600G>A g.129476757G>A IFT122(NM_001280541.1):c.1079G>A (p.(Ser360Asn)), IFT122(NM_052985.3):c.1256G>A (p.S419N) - IFT122_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1256G>A r.(?) p.(Ser419Asn) Unknown - likely benign g.129195600G>A - IFT122(NM_001280541.1):c.1079G>A (p.(Ser360Asn)), IFT122(NM_052985.3):c.1256G>A (p.S419N) - IFT122_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1300+19C>T r.(=) p.(=) Unknown - benign g.129195663C>T g.129476820C>T IFT122(NM_052985.3):c.1300+19C>T - IFT122_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1300+19C>T r.(=) p.(=) Unknown - benign g.129195663C>T g.129476820C>T IFT122(NM_052985.3):c.1300+19C>T - IFT122_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1343A>G r.(?) p.(Tyr448Cys) Unknown - VUS g.129196901A>G - IFT122(NM_052985.3):c.1343A>G (p.Y448C) - IFT122_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1360A>C r.(?) p.(Ile454Leu) Unknown - VUS g.129196918A>C - IFT122(NM_052985.4):c.1360A>C (p.I454L) - IFT122_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1426C>T r.(?) p.(Arg476Trp) Unknown - likely benign g.129196984C>T g.129478141C>T IFT122(NM_001280541.1):c.1249C>T (p.(Arg417Trp)), IFT122(NM_052985.4):c.1426C>T (p.R476W) - IFT122_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1426C>T r.(?) p.(Arg476Trp) Unknown - likely benign g.129196984C>T g.129478141C>T IFT122(NM_001280541.1):c.1249C>T (p.(Arg417Trp)), IFT122(NM_052985.4):c.1426C>T (p.R476W) - IFT122_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1426C>T r.(?) p.(Arg476Trp) Parent #1 - likely benign g.129196984C>T g.129478141C>T - - IFT122_000020 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61744639 Germline - 13/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 13 Mohammed Faruq
-?/. - c.1504-3T>C r.spl? p.? Unknown - likely benign g.129198625T>C g.129479782T>C IFT122(NM_001280541.1):c.1327-3T>C (p.?) - IFT122_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 15 c.1658T>G r.(?) p.(Val553Gly) Paternal (inferred) - pathogenic g.129200389T>G g.129481546T>G c.T1658G, p.V553G - IFT122_000004 - PubMed: Walczak-Sztulpa 2010 - - Germline - - - 0 - DNA SEQ - - dysplasia, cranioectodermal, type 1 - - - F - ? (unknown) Polish - 0 - - 1 LOVD
+/? 15 c.1658T>G r.(?) p.(Val553Gly) Maternal (inferred) - pathogenic g.129200389T>G g.129481546T>G c.T1658G, p.V553G - IFT122_000004 - PubMed: Walczak-Sztulpa 2010 - - Germline - - - 0 - DNA SEQ - - dysplasia, cranioectodermal, type 1 - - - F - ? (unknown) Polish - 0 - - 1 LOVD
+/? 15 c.1658T>G r.(?) p.(Val553Gly) Paternal (inferred) - pathogenic g.129200389T>G g.129481546T>G c.T1658G, p.V553G - IFT122_000004 - PubMed: Walczak-Sztulpa 2010 - - Germline - - - 0 - DNA SEQ - - dysplasia, cranioectodermal, type 1 - - - M - ? (unknown) Polish - 0 - - 1 LOVD
+/? 15 c.1658T>G r.(?) p.(Val553Gly) Maternal (inferred) - pathogenic g.129200389T>G g.129481546T>G c.T1658G, p.V553G - IFT122_000004 - PubMed: Walczak-Sztulpa 2010 - - Germline - - - 0 - DNA SEQ - - dysplasia, cranioectodermal, type 1 - - - M - ? (unknown) Polish - 0 - - 1 LOVD
-?/. - c.1678G>A r.(?) p.(Val560Ile) Unknown - likely benign g.129200409G>A - IFT122(NM_052985.3):c.1678G>A (p.V560I) - IFT122_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1763C>T r.(?) p.(Thr588Ile) Unknown - VUS g.129200494C>T - IFT122(NM_052985.3):c.1763C>T (p.T588I) - IFT122_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1807-12C>T r.(=) p.(=) Unknown - benign g.129202316C>T g.129483473C>T IFT122(NM_052985.3):c.1807-12C>T - IFT122_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1827A>G r.(?) p.(Val609=) Unknown - benign g.129202348A>G g.129483505A>G - - IFT122_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1830T>C r.(?) p.(Ala610=) Unknown - benign g.129202351T>C g.129483508T>C - - IFT122_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1859G>A r.(?) p.(Cys620Tyr) Unknown - VUS g.129202380G>A - IFT122(NM_001280541.1):c.1682G>A (p.(Cys561Tyr)) - IFT122_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1866G>T r.(?) p.(Ser622=) Unknown - likely benign g.129202387G>T g.129483544G>T IFT122(NM_052985.3):c.1866G>T (p.S622=) - IFT122_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1868G>T r.(?) p.(Gly623Val) Both (homozygous) - pathogenic (recessive) g.129202389G>T g.129483546G>T NM_052985.3:c.1868G>T:p.(Gly623Val) - IFT122_000071 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG0058 , 11DG0059 , 11DG0060 PubMed: Maddirevula 2018 family, 3 affected (F, 2M) F;M yes - Arab - 0 - - 3 LOVD
+?/. - c.1868G>T r.(?) p.(Gly623Val) Both (homozygous) ACMG likely pathogenic g.129202389G>T g.129483546G>T - - IFT122_000071 ACMG PS3, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - 0 - DNA SEQ-NG - WES ID 11DG0058 PubMed: Anazi 2017 familial M yes Saudi Arabia - - 0 - - 1 Johan den Dunnen
-/. - c.2004+10G>A r.(=) p.(=) Unknown - benign g.129202535G>A g.129483692G>A - - IFT122_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2007C>T r.(?) p.(Ser669=) Unknown - likely benign g.129207102C>T g.129488259C>T IFT122(NM_001280541.1):c.1830C>T (p.(=)), IFT122(NM_052985.3):c.2007C>T (p.S669=) - IFT122_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2007C>T r.(?) p.(Ser669=) Unknown - likely benign g.129207102C>T g.129488259C>T IFT122(NM_001280541.1):c.1830C>T (p.(=)), IFT122(NM_052985.3):c.2007C>T (p.S669=) - IFT122_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2007C>T r.(?) p.(Ser669=) Unknown - benign g.129207102C>T - IFT122(NM_001280541.1):c.1830C>T (p.(=)), IFT122(NM_052985.3):c.2007C>T (p.S669=) - IFT122_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 17 c.2063_2082delinsGCGTG r.(?) p.(Ala688_Asp694delinsGlyVal) Paternal (confirmed) - likely pathogenic g.129207158_129207177delinsGCGTG g.129488315_129488334delinsGCGTG - - IFT122_000009 - - - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - CED - - - - no - - - 0 - - 1 Karen Stals
-?/. - c.2096A>C r.(?) p.(Glu699Ala) Unknown - likely benign g.129207191A>C g.129488348A>C IFT122(NM_001280541.1):c.1919A>C (p.(Glu640Ala)), IFT122(NM_052985.3):c.2096A>C (p.E699A) - IFT122_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2096A>C r.(?) p.(Glu699Ala) Unknown - benign g.129207191A>C g.129488348A>C IFT122(NM_001280541.1):c.1919A>C (p.(Glu640Ala)), IFT122(NM_052985.3):c.2096A>C (p.E699A) - IFT122_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2096A>C r.(?) p.(Glu699Ala) Unknown - likely benign g.129207191A>C g.129488348A>C IFT122(NM_001280541.1):c.1919A>C (p.(Glu640Ala)), IFT122(NM_052985.3):c.2096A>C (p.E699A) - IFT122_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2117_2119del r.(?) p.(Glu706del) Unknown - VUS g.129207212_129207214del - - - IFT122_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2145+7A>G r.(=) p.(=) Unknown - likely benign g.129207247A>G - - - IFT122_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2146-8C>T r.(=) p.(=) Unknown - likely benign g.129210976C>T g.129492133C>T IFT122(NM_001280541.1):c.1969-8C>T (p.(=)) - IFT122_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2146-7G>C r.(=) p.(=) Unknown - benign g.129210977G>C g.129492134G>C IFT122(NM_052985.3):c.2146-7G>C, IFT122(NM_052985.4):c.2146-7G>C - IFT122_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2146-7G>C r.(=) p.(=) Unknown - benign g.129210977G>C g.129492134G>C IFT122(NM_052985.3):c.2146-7G>C, IFT122(NM_052985.4):c.2146-7G>C - IFT122_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2213G>A r.(?) p.(Arg738Gln) Unknown - benign g.129214302G>A g.129495459G>A IFT122(NM_052985.3):c.2213G>A (p.R738Q) - IFT122_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2280C>T r.(?) p.(Ala760=) Unknown - benign g.129214369C>T g.129495526C>T IFT122(NM_052985.3):c.2280C>T (p.A760=) - IFT122_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2317G>A r.(?) p.(Ala773Thr) Unknown - VUS g.129214406G>A g.129495563G>A IFT122(NM_052985.4):c.2317G>A (p.A773T) - IFT122_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2334C>T r.(?) p.(Thr778=) Unknown - likely benign g.129214423C>T g.129495580C>T IFT122(NM_052985.3):c.2334C>T (p.T778=) - IFT122_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2528+2T>C r.spl? p.? Both (homozygous) - pathogenic (recessive) g.129218913T>C g.129500070T>C NM_052985.3:c.2528+2T>C - IFT122_000072 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG1212 PubMed: Maddirevula 2018 isolated case F yes - Arab - 0 - - 1 LOVD
-?/. - c.2754G>A r.(?) p.(Pro918=) Unknown - likely benign g.129223215G>A g.129504372G>A IFT122(NM_052985.3):c.2754G>A (p.P918=) - IFT122_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2804-3C>G r.spl? p.? Unknown - pathogenic g.129225249C>G g.129506406C>G - - IFT122_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2835G>A r.(?) p.(Ala945=) Unknown - likely benign g.129225283G>A g.129506440G>A IFT122(NM_052985.3):c.2835G>A (p.A945=) - IFT122_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2950G>A r.(?) p.(Ala984Thr) Unknown - likely benign g.129226516G>A g.129507673G>A IFT122(NM_001280541.1):c.2776G>A (p.(Ala926Thr)) - IFT122_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2988C>G r.(?) p.(Phe996Leu) Unknown - likely benign g.129226554C>G g.129507711C>G IFT122(NM_001280541.1):c.2814C>G (p.(Phe938Leu)) - IFT122_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 24i c.3039+4A>G r.[=, 2945_3039del] p.[=, Asp982Glyfs*10] Maternal (confirmed) - likely pathogenic g.129226609A>G g.129507766A>G - - IFT122_000008 maternal RNA demonstrated skipping of exon 24 - - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - CED - - - - no - - - 0 - - 1 Karen Stals
+?/. 26 c.3184G>C r.(?) p.(Ala1062Pro) Paternal (inferred) - likely pathogenic g.129233275G>C g.129514432G>C g.74308G>C - IFT122_000005 - - - rs199622112 Unknown - - - 0 - DNA SEQ-NG - - SACS, SRTD-12 - - - M no Brazil - - 0 - - 1 Karina Silveira
?/. 26 c.3228dup r.(?) p.(Tyr1077Valfs*11) Maternal (confirmed) - VUS g.129233319dup g.129514476dup - - IFT122_000006 patient has c.3231_3233delCAT on same allele - - - Unknown - - - 0 - DNA SEQ-NG - - SACS, SRTD-12 - - - M no Brazil - - 0 - - 1 Karina Silveira
?/. 26 c.3232_3234del r.(?) p.(Ile1078del) Maternal (inferred) - VUS g.129233323_129233325del g.129514480_129514482del 3231_3233delCAT g.74355_74357del - IFT122_000007 - - - - Unknown - - - 0 - DNA SEQ-NG - - SACS, SRTD-12 - - - M no Brazil - - 0 - - 1 Karina Silveira
-?/. - c.3282C>T r.(?) p.(Arg1094=) Unknown - likely benign g.129233373C>T g.129514530C>T IFT122(NM_052985.3):c.3282C>T (p.R1094=) - IFT122_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3284C>T r.(?) p.(Ala1095Val) Unknown - VUS g.129233375C>T g.129514532C>T IFT122(NM_001280541.1):c.3110C>T (p.(Ala1037Val)) - IFT122_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3306+7A>G r.(=) p.(=) Unknown - likely benign g.129233404A>G g.129514561A>G IFT122(NM_001280541.1):c.3132+7A>G (p.(=)) - IFT122_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3370G>A r.(?) p.(Val1124Ile) Unknown - likely benign g.129234394G>A g.129515551G>A IFT122(NM_052985.3):c.3370G>A (p.V1124I) - IFT122_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3418+7C>T r.(=) p.(=) Unknown - likely benign g.129234449C>T g.129515606C>T IFT122(NM_001280541.1):c.3244+7C>T (p.(=)) - IFT122_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3640T>A r.(?) p.(Phe1214Ile) Unknown - VUS g.129238426T>A g.129519583T>A IFT122(NM_052985.3):c.3640T>A (p.F1214I) - IFT122_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3686G>A r.(?) p.(Arg1229His) Unknown - VUS g.129238472G>A g.129519629G>A IFT122(NM_052985.3):c.3686G>A (p.R1229H) - IFT122_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3739C>T r.(?) p.(Arg1247Cys) Unknown - VUS g.129238525C>T - IFT122(NM_052985.3):c.3739C>T (p.R1247C) - IFT122_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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