Full data view for gene TTC21B

Information The variants shown are described using the NM_024753.4 transcript reference sequence.

181 entries on 2 pages. Showing entries 1 - 100.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-298339_*1152844del r.0? p.0? Unknown - pathogenic g.165578421_167108554del - - - COBLL1_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-/. - c.-17C>T r.(?) p.(=) Unknown - benign g.166810232G>A g.165953722G>A TTC21B(NM_024753.4):c.-17C>T - TTC21B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.19_20insGCGGGTG r.(?) p.(Lys7Serfs*3) Unknown - likely pathogenic (recessive) g.166810196_166810197insCACCCGC - NM_024753.4:c.19_20insGCGGGTG - TTC21B_000085 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R95-149 PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - white - - - - 1 LOVD
-/. - c.21+18_21+33dup r.(=) p.(=) Unknown - benign g.166810180_166810195dup g.165953670_165953685dup TTC21B(NM_024753.5):c.21+18_21+33dupTGAGCGGGTGAGCGGG - TTC21B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.21+26_21+33dup r.(=) p.(=) Unknown - benign g.166810188_166810195dup g.165953678_165953685dup TTC21B(NM_024753.5):c.21+26_21+33dupTGAGCGGG - TTC21B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.117C>G r.(?) p.(Phe39Leu) Unknown - likely benign g.166806139G>C - TTC21B(NM_024753.4):c.117C>G (p.(Phe39Leu)) - TTC21B_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.126_128del r.(?) p.(Glu43del) Parent #2 - likely pathogenic g.166806128_166806130del - c.126_128delAGA - TTC21B_000104 - PubMed: DeLuca-2016 - - Germline - - - - - DNA, RNA SEQ-NG dermal fibroblasts WES retinal disease Patient 1 PubMed: DeLuca-2016 - M - - - - - - - 1 LOVD
+/. 2 c.131C>A r.(?) p.(Ala44Asp) Unknown - pathogenic (recessive) g.166806125G>T - NM_024753.4:c.131C>A - TTC21B_000084 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R08-045A PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
-/. - c.151+32G>C r.(=) p.(=) Unknown - benign g.166806073C>G g.165949563C>G TTC21B(NM_024753.5):c.151+32G>C - TTC21B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.152G>A r.(?) p.(Gly51Asp) Unknown - VUS g.166806014C>T - TTC21B(NM_024753.4):c.152G>A (p.(Gly51Asp)) - TTC21B_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.242A>G r.(?) p.(His81Arg) Unknown - VUS g.166805924T>C - TTC21B(NM_024753.4):c.242A>G (p.(His81Arg)) - TTC21B_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.249G>T r.(?) p.(Met83Ile) Unknown - likely benign g.166805917C>A - TTC21B(NM_024753.4):c.249G>T (p.M83I) - TTC21B_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.262+16G>A r.(=) p.(=) Unknown - likely benign g.166805888C>T - TTC21B(NM_024753.4):c.262+16G>A (p.(=)), TTC21B(NM_024753.5):c.262+16G>A - TTC21B_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.262+16G>A r.(=) p.(=) Unknown - likely benign g.166805888C>T - TTC21B(NM_024753.4):c.262+16G>A (p.(=)), TTC21B(NM_024753.5):c.262+16G>A - TTC21B_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.263-86A>C r.(=) p.(=) Unknown - benign g.166802286T>G g.165945776T>G TTC21B(NM_024753.5):c.263-86A>C - TTC21B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.263-15A>G r.(=) p.(=) Unknown - likely benign g.166802215T>C - TTC21B(NM_024753.5):c.263-15A>G - TTC21B_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.308G>A r.(?) p.(Arg103His) Unknown - VUS g.166802155C>T g.165945645C>T TTC21B(NM_024753.4):c.308G>A (p.R103H) - TTC21B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.379G>A r.(?) p.(Ala127Thr) Unknown - pathogenic g.166802084C>T g.165945574C>T TTC21B/NPHP12 c.379G>A, p.Ala127Thr - TTC21B_000091 heterozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-10 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
-/. - c.430-52A>G r.(=) p.(=) Unknown - benign g.166799903T>C g.165943393T>C TTC21B(NM_024753.5):c.430-52A>G - TTC21B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.448T>C r.(?) p.(Trp150Arg) Unknown - pathogenic g.166799833A>G - c.448T/C - TTC21B_000066 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 homozygous mutation identified in mother - - - Swiss - - - - 1 LOVD
-?/. - c.468A>G r.(?) p.(Gly156=) Unknown - likely benign g.166799813T>C - TTC21B(NM_024753.4):c.468A>G (p.G156=) - TTC21B_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.499T>G r.(?) p.(Tyr167Asp) Unknown - VUS g.166799782A>C - TTC21B(NM_024753.4):c.499T>G (p.(Tyr167Asp)) - TTC21B_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.553-2A>T r.spl p.? Paternal (confirmed) ACMG pathogenic g.166797696T>A g.165941186T>A c.553-2(IVS5)A>T - TTC21B_000089 - PubMed: Tang 2022, Journal: Tang 2022 - rs773580610 Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1011 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
-/. - c.601G>A r.(?) p.(Val201Met) Unknown - benign g.166797646C>T g.165941136C>T TTC21B(NM_024753.4):c.601G>A (p.V201M) - TTC21B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.626C>T r.(?) p.(Pro209Leu) Unknown - likely pathogenic g.166797621G>A g.165941111G>A TTC21B(NM_024753.5):c.626C>T (p.(Pro209Leu), p.P209L) - TTC21B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.626C>T r.(?) p.(Pro209Leu) Parent #1 - pathogenic g.166797621G>A g.165941111G>A - - TTC21B_000035 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140511594 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.626C>T r.(?) p.? Unknown ACMG likely pathogenic g.166797621G>A - - - TTC21B_000035 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.626C>T r.(?) p.(Pro209Leu) Unknown - pathogenic g.166797621G>A - TTC21B(NM_024753.5):c.626C>T (p.(Pro209Leu), p.P209L) - TTC21B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.626C>T r.(?) p.(Pro209Leu) Unknown - pathogenic g.166797621G>A - c.626C/T - TTC21B_000035 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 heterozygous mutation identified in mother - - Turkey - - - - - 1 LOVD
+/. 6 c.626C>T r.(?) p.(Pro209Leu) Unknown - pathogenic g.166797621G>A - c.626C/T - TTC21B_000035 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 Homozygous mutation identified in mother - - - Portuguese - - - - 1 LOVD
+/. - c.626C>T r.(?) p.(Pro209Leu) Unknown - pathogenic g.166797621G>A - TTC21B(NM_024753.5):c.626C>T (p.(Pro209Leu), p.P209L) - TTC21B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.626C>T r.(?) p.(Pro209Leu) Both (homozygous) - pathogenic (recessive) g.166797621G>A - - - TTC21B_000035 - - - - Germline - - - - - DNA SEQ-NG - - FSGS - - - F - Morocco - - - - - 1 Martina Marangoni
+/. 6 c.626C>T r.(?) p.(Pro209Leu) Both (homozygous) - pathogenic (recessive) g.166797621G>A g.165941111G>A - - TTC21B_000035 - PubMed: Nambot 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PED2193.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+/. - c.626C>T r.(?) p.(Pro209Leu) Unknown - pathogenic g.166797621G>A - TTC21B(NM_024753.5):c.626C>T (p.(Pro209Leu), p.P209L) - TTC21B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.665A>T r.(?) p.(Gln222Leu) Unknown - benign g.166797582T>A g.165941072T>A TTC21B(NM_024753.4):c.665A>T (p.(Gln222Leu)), TTC21B(NM_024753.5):c.665A>T (p.Q222L) - TTC21B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.665A>T r.(?) p.(Gln222Leu) Unknown - likely benign g.166797582T>A - TTC21B(NM_024753.4):c.665A>T (p.(Gln222Leu)), TTC21B(NM_024753.5):c.665A>T (p.Q222L) - TTC21B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.691A>T r.(?) p.(Thr231Ser) Unknown - likely benign g.166797556T>A - TTC21B(NM_024753.5):c.691A>T (p.T231S) - TTC21B_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.703G>C r.(?) p.(Ala235Pro) Unknown - pathogenic (recessive) g.166797544C>G - NM_024753.4:c.703G>C - TTC21B_000083 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R03-101 PubMed: Zhang-2019 - - - - African American - - - - 1 LOVD
?/. - c.711G>T r.(?) p.(Arg237Ser) Unknown - VUS g.166789567C>A g.165933057C>A TTC21B(NM_024753.4):c.711G>T (p.R237S) - TTC21B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.724G>A r.(?) p.(Asp242Asn) Unknown - benign g.166789554C>T g.165933044C>T TTC21B(NM_024753.4):c.724G>A (p.(Asp242Asn)), TTC21B(NM_024753.5):c.724G>A (p.D242N) - TTC21B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.724G>A r.(?) p.(Asp242Asn) Unknown - likely benign g.166789554C>T - TTC21B(NM_024753.4):c.724G>A (p.(Asp242Asn)), TTC21B(NM_024753.5):c.724G>A (p.D242N) - TTC21B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.752T>G r.(?) p.(Met251Arg) Parent #1 ACMG VUS g.166789526A>C g.165933016A>C c.752(exon7)T>G - TTC21B_000088 - PubMed: Tang 2022, Journal: Tang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1016 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
+/. - c.778G>T r.(?) p.(Glu260*) Unknown - pathogenic g.166789500C>A - TTC21B(NM_024753.5):c.778G>T (p.E260*) - TTC21B_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.778G>T r.(?) p.(Glu260*) Unknown - likely pathogenic g.166789500C>A - TTC21B(NM_024753.5):c.778G>T (p.E260*) - TTC21B_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.826A>G r.(?) p.(Thr276Ala) Unknown - benign g.166788336T>C g.165931826T>C TTC21B(NM_024753.4):c.826A>G (p.T276A), TTC21B(NM_024753.5):c.826A>G (p.T276A) - TTC21B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.826A>G r.(?) p.(Thr276Ala) Unknown - benign g.166788336T>C g.165931826T>C TTC21B(NM_024753.4):c.826A>G (p.T276A), TTC21B(NM_024753.5):c.826A>G (p.T276A) - TTC21B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.838A>G r.(?) p.(Met280Val) Unknown - benign g.166788324T>C g.165931814T>C TTC21B(NM_024753.4):c.838A>G (p.(Met280Val)), TTC21B(NM_024753.5):c.838A>G (p.M280V) - TTC21B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.838A>G r.(?) p.(Met280Val) Unknown - likely benign g.166788324T>C - TTC21B(NM_024753.4):c.838A>G (p.(Met280Val)), TTC21B(NM_024753.5):c.838A>G (p.M280V) - TTC21B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.880G>T r.(?) p.(Ala294Ser) Maternal (confirmed) ACMG VUS g.166788282C>A g.165931772C>A c.880(exon8)G>T - TTC21B_000087 - PubMed: Tang 2022, Journal: Tang 2022 - rs141240501 Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1026 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.895T>C r.(?) p.(Cys299Arg) Unknown - likely pathogenic g.166786874A>G g.165930364A>G TTC21B(NM_024753.4):c.1552T>C(p.C518R)/c.895T>C(p.C299R) - TTC21B_000106 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 218 - - - DNA SEQ-NG-I blood - ? WHP118 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
-?/. - c.1047C>T r.(?) p.(Thr349=) Unknown - likely benign g.166786722G>A - TTC21B(NM_024753.5):c.1047C>T (p.T349=) - TTC21B_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1072G>A r.(?) p.(Val358Met) Unknown - VUS g.166786697C>T - TTC21B(NM_024753.5):c.1072G>A (p.(Val358Met)) - TTC21B_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1087+1G>A r.spl? p.? Unknown - likely pathogenic g.166786681C>T - TTC21B(NM_024753.5):c.1087+1G>A - TTC21B_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1088-1G>C r.spl p.? Unknown ACMG pathogenic g.166786258C>G - - - TTC21B_000057 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1134_1136dup r.(?) p.(Asp378_Gln379insHis) Unknown - VUS g.166786210_166786212dup - TTC21B(NM_024753.4):c.1134_1136dup (p.(Asp378_Gln379insHis)) - TTC21B_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1135C>T r.(?) p.(Gln379Ter) Unknown - pathogenic g.166786210G>A g.165929700G>A TTC21B(NM_024753.5):c.1135C>T (p.Q379*) - TTC21B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1162C>T r.(?) p.(Gln388*) Unknown - VUS g.166786183G>A g.165929673G>A TTC21B c.1162C>T, p.Gln388Ter - TTC21B_000076 unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI628_001291 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.1174_1184del r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.166786161_166786171del g.165929651_165929661del NM_024753.4:c.1176_1185+1del:p.(Lys393Asnfs*2) - TTC21B_000060 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0098 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
?/. - c.1231C>G r.(?) p.(Arg411Gly) Unknown - VUS g.166785800G>C - TTC21B(NM_024753.5):c.1231C>G (p.(Arg411Gly)) - TTC21B_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1320del r.(?) p.(Phe440Leufs*4) Unknown - pathogenic (recessive) g.166785711del - NM_024753.4:c.1320delT - TTC21B_000082 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R97-091 PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
+?/. - c.1320del r.(?) p.(Phe440Leufs*4) Unknown ACMG likely pathogenic g.166785714del g.165929204del TTC21B c.1320del, p.(Phe440Leufs*4) - TTC21B_000082 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 49_58 PubMed: Zhu 2022 family 49, individual 58 F - - - - - - - 1 LOVD
-/. - c.1387-55dup r.(=) p.(=) Unknown - benign g.166781246dup g.165924736dup TTC21B(NM_024753.5):c.1387-55dupT - TTC21B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1387C>T r.(?) p.(Pro463Ser) Unknown - benign g.166781188G>A g.165924678G>A TTC21B(NM_024753.4):c.1387C>T (p.(Pro463Ser)), TTC21B(NM_024753.5):c.1387C>T (p.P463S) - TTC21B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1387C>T r.(?) p.(Pro463Ser) Unknown - likely benign g.166781188G>A - TTC21B(NM_024753.4):c.1387C>T (p.(Pro463Ser)), TTC21B(NM_024753.5):c.1387C>T (p.P463S) - TTC21B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1397C>A r.(?) p.(Pro466His) Unknown - pathogenic (recessive) g.166781178G>T - NM_024753.4:c.1397C>A - TTC21B_000081 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R03-101 PubMed: Zhang-2019 - - - - African American - - - - 1 LOVD
-?/. - c.1417C>T r.(?) p.(Leu473Phe) Unknown - likely benign g.166781158G>A g.165924648G>A TTC21B(NM_024753.4):c.1417C>T (p.L473F, p.(Leu473Phe)) - TTC21B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1417C>T r.(?) p.(Leu473Phe) Unknown - likely benign g.166781158G>A g.165924648G>A TTC21B(NM_024753.4):c.1417C>T (p.L473F, p.(Leu473Phe)) - TTC21B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1427G>A r.(?) p.(Arg476His) Unknown - VUS g.166781148C>T - Arg476His - TTC21B_000103 - PubMed: DeLuca-2016 - - Germline - - - - - DNA, RNA SEQ-NG dermal fibroblasts WES retinal disease Patient 1 PubMed: DeLuca-2016 - M - - - - - - - 1 LOVD
+/. 12 c.1495G>A r.(?) p.(Ala499Thr) Unknown - pathogenic (recessive) g.166781080C>T - NM_024753.4:c.1495G>A - TTC21B_000080 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R03-101 PubMed: Zhang-2019 - - - - African American - - - - 1 LOVD
-?/. - c.1517-5A>C r.spl? p.? Unknown - likely benign g.166775948T>G g.165919438T>G TTC21B(NM_024753.4):c.1517-5A>C, TTC21B(NM_024753.5):c.1517-5A>C - TTC21B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1517-5A>C r.spl? p.? Unknown - likely benign g.166775948T>G - TTC21B(NM_024753.4):c.1517-5A>C, TTC21B(NM_024753.5):c.1517-5A>C - TTC21B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 13 c.1552T>C r.(?) p.(Cys518Arg) Parent #1 ACMG VUS g.166775908A>G g.165919398A>G c.1552(exon13)T>C - TTC21B_000068 - PubMed: Tang 2022, Journal: Tang 2022 - rs1378821369 Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1016 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
+/. 13 c.1552T>C r.(?) p.(Cys518Arg) Unknown ACMG pathogenic g.166775908A>G g.165919398A>G c.1552(exon13)T>C - TTC21B_000068 - PubMed: Tang 2022, Journal: Tang 2022 - rs1378821369 De novo - - - - - DNA SEQ, SEQ-NG - WES NPHP 882 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
+/. 13 c.1552T>C r.(?) p.(Cys518Arg) Unknown ACMG pathogenic g.166775908A>G g.165919398A>G c.1552(exon13)T>C - TTC21B_000068 - PubMed: Tang 2022, Journal: Tang 2022 - rs1378821369 De novo - - - - - DNA SEQ, SEQ-NG - WES NPHP 1002 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
+/. 13 c.1552T>C r.(?) p.(Cys518Arg) Maternal (confirmed) ACMG pathogenic g.166775908A>G g.165919398A>G c.1552(exon13)T>C - TTC21B_000068 - PubMed: Tang 2022, Journal: Tang 2022 - rs1378821369 Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1011 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.1552T>C r.(?) p.(Cys518Arg) Unknown - likely pathogenic g.166775908A>G g.165919398A>G TTC21B(NM_024753.4):c.1552T>C(p.C518R)/c.895T>C(p.C299R) - TTC21B_000068 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 218 - - - DNA SEQ-NG-I blood - ? WHP118 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+?/. - c.1552T>C r.(?) p.(Cys518Arg) Unknown - likely pathogenic g.166775908A>G g.165919398A>G TTC21B(NM_024753.4):c.1897C>T(p.Q633* )/c.1552T>C(p.C518R ) - TTC21B_000068 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 232 - - - DNA SEQ-NG-I blood - ? WHP132 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
-?/. - c.1571C>G r.(?) p.(Ser524Cys) Unknown - likely benign g.166775889G>C - TTC21B(NM_024753.5):c.1571C>G (p.S524C) - TTC21B_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1578T>C r.(?) p.(Ala526=) Unknown - likely benign g.166775882A>G g.165919372A>G TTC21B(NM_024753.4):c.1578T>C (p.A526=) - TTC21B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1650A>G r.(?) p.(Glu550=) Unknown - likely benign g.166775810T>C - TTC21B(NM_024753.5):c.1650A>G (p.E550=) - TTC21B_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1654-7delTGTC r.spl? p.? Unknown - pathogenic g.166775813delGACA - c.1654e7delTGTC - TTC21B_000065 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 heterozygous mutation identified in mother - - Turkey - - - - - 1 LOVD
+/. - c.1656_1659del r.(?) p.(Cys552*) Unknown - pathogenic g.166775803_166775806del - TTC21B(NM_024753.4):c.1656_1659del (p.(Cys552*)), TTC21B(NM_024753.4):c.1656_1659delTCTG (p.C552*) - TTC21B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1656_1659del r.(?) p.(Cys552Ter) Unknown ACMG pathogenic g.166775803_166775806del g.165919293_165919296del c.1656(exon13)_c.1659(exon13)delTCTG - TTC21B_000059 - PubMed: Tang 2022, Journal: Tang 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NPHP 882 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
+/. 13 c.1656_1659del r.(?) p.(Cys552Ter) Unknown ACMG pathogenic g.166775803_166775806del g.165919293_165919296del c.1656(exon13)_c.1659(exon13)delTCTG - TTC21B_000059 - PubMed: Tang 2022, Journal: Tang 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NPHP 1002 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
+/. - c.1656_1659del r.(?) p.(Cys552*) Unknown - pathogenic g.166775803_166775806del - TTC21B(NM_024753.4):c.1656_1659del (p.(Cys552*)), TTC21B(NM_024753.4):c.1656_1659delTCTG (p.C552*) - TTC21B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1675-97T>C r.(=) p.(=) Unknown - benign g.166774088A>G g.165917578A>G TTC21B(NM_024753.5):c.1675-97T>C - TTC21B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1676T>G r.(?) p.(Val559Gly) Unknown - likely benign g.166773990A>C - TTC21B(NM_024753.5):c.1676T>G (p.V559G) - TTC21B_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1695C>T r.(?) p.(Tyr565=) Unknown - benign g.166773971G>A g.165917461G>A TTC21B(NM_024753.4):c.1695C>T (p.Y565=), TTC21B(NM_024753.5):c.1695C>T (p.Y565=) - TTC21B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1695C>T r.(?) p.(Tyr565=) Unknown - benign g.166773971G>A g.165917461G>A TTC21B(NM_024753.4):c.1695C>T (p.Y565=), TTC21B(NM_024753.5):c.1695C>T (p.Y565=) - TTC21B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1697A>G r.(?) p.(His566Arg) Unknown - VUS g.166773969T>C - TTC21B(NM_024753.5):c.1697A>G (p.(His566Arg), p.H566R) - TTC21B_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1697A>G r.(?) p.(His566Arg) Unknown - likely benign g.166773969T>C - TTC21B(NM_024753.5):c.1697A>G (p.(His566Arg), p.H566R) - TTC21B_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1725A>G r.(?) p.(Lys575=) Unknown - likely benign g.166773941T>C - TTC21B(NM_024753.5):c.1725A>G (p.K575=) - TTC21B_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1816G>A r.(?) p.(Asp606Asn) Unknown - likely benign g.166773850C>T - TTC21B(NM_024753.4):c.1816G>A (p.(Asp606Asn)) - TTC21B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1846C>T r.(?) p.(Arg616Cys) Unknown - VUS g.166773820G>A g.165917310G>A TTC21B(NM_024753.4):c.1846C>T (p.R616C, p.(Arg616Cys)), TTC21B(NM_024753.5):c.1846C>T (p.R616C) - TTC21B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1846C>T r.(?) p.(Arg616Cys) Unknown - likely benign g.166773820G>A g.165917310G>A TTC21B(NM_024753.4):c.1846C>T (p.R616C, p.(Arg616Cys)), TTC21B(NM_024753.5):c.1846C>T (p.R616C) - TTC21B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1846C>T r.(?) p.(Arg616Cys) Unknown - likely benign g.166773820G>A - TTC21B(NM_024753.4):c.1846C>T (p.R616C, p.(Arg616Cys)), TTC21B(NM_024753.5):c.1846C>T (p.R616C) - TTC21B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.1846C>T r.(?) p.(Arg616Cys) Unknown - VUS g.166773820G>A - TTC21B/NPHP12:p.[R616C];[=] - TTC21B_000017 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Redin-2012 - - - India - - - - - 1 LOVD
-?/. - c.1867T>C r.(?) p.(Leu623=) Unknown - likely benign g.166773799A>G - TTC21B(NM_024753.4):c.1867T>C (p.L623=) - TTC21B_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1870A>G r.(?) p.(Ile624Val) Unknown - benign g.166773796T>C g.165917286T>C TTC21B(NM_024753.4):c.1870A>G (p.I624V), TTC21B(NM_024753.5):c.1870A>G (p.I624V) - TTC21B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1870A>G r.(?) p.(Ile624Val) Unknown - likely benign g.166773796T>C - TTC21B(NM_024753.4):c.1870A>G (p.I624V), TTC21B(NM_024753.5):c.1870A>G (p.I624V) - TTC21B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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