Full data view for gene C21orf2

NOTE: gene name changed from C21orf2 to CFAP410
Information The variants shown are described using the NM_004928.2 transcript reference sequence.

145 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.18G>A r.(?) p.(Lys6=) Unknown - likely benign g.45759060C>T g.44339177C>T C21orf2(NM_001271441.1):c.18G>A (p.K6=), CFAP410(NM_001271441.2):c.18G>A (p.K6=) - C21orf2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.18G>A r.(?) p.(Lys6=) Unknown - benign g.45759060C>T g.44339177C>T C21orf2(NM_001271441.1):c.18G>A (p.K6=), CFAP410(NM_001271441.2):c.18G>A (p.K6=) - C21orf2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.33_34insAGCTGCACAGCGTGCA r.(?) p.(Ala12SerfsTer60) Parent #2 - pathogenic (recessive) g.45759044_45759045insTGCACGCTGTGCAGCT g.44339161_44339162insTGCACGCTGTGCAGCT 21:45759044C>CTGCACGCTGTGCAGCT ENST00000397956.3:c.33_34insAGCTGCACAGCGTGCA (Ala12SerfsTer60) - C21orf2_000073 - PubMed: Carss 2017, PubMed: Turro 2020 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G004999 PubMed: Carss 2017, PubMed: Turro 2020 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.33_34insAGCTGCACAGCGTGCA r.(?) p.(Ala12SerfsTer60) Parent #2 - pathogenic (recessive) g.45759044_45759045insTGCACGCTGTGCAGCT g.44339161_44339162insTGCACGCTGTGCAGCT 21:45759044C>CTGCACGCTGTGCAGCT ENST00000397956.3:c.33_34insAGCTGCACAGCGTGCA (Ala12SerfsTer60) - C21orf2_000073 - PubMed: Carss 2017, PubMed: Turro 2020 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005543 PubMed: Carss 2017, PubMed: Turro 2020 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. 1 c.33_34insAGCTGCACAGCGTGCA r.(?) p.(Ala12Serfs*60) Both (homozygous) ACMG pathogenic g.45759044_45759045insTGCACGCTGTGCAGCT g.44339161_44339162insTGCACGCTGTGCAGCT - - C21orf2_000073 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel, WES retinal disease 242 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+/. 1 c.33_34insAGCTGCACAGCGTGCA r.(?) p.(Ala12Serfs*60) Unknown ACMG pathogenic g.45759044_45759045insTGCACGCTGTGCAGCT g.44339161_44339162insTGCACGCTGTGCAGCT c.33_34insAGCTGCACAGCGTGCA, p.Ala12Serfs*60 - C21orf2_000073 Heterozygous PubMed: Birtel 2018 - rs748531024 Germline yes - - - - DNA SEQ-NG blood - retinal disease 41 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
?/. - c.58G>A r.(?) p.(Val20Met) Unknown - VUS g.45759020C>T g.44339137C>T - - C21orf2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.59_62del r.(?) p.(Val20AlafsTer24) Unknown - pathogenic g.45759019_45759022del g.44339136_44339139del - - C21orf2_000051 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.59_62del r.(?) p.(Val20AlafsTer24) Unknown ACMG pathogenic (recessive) g.45759019_45759022del g.44339136_44339139del - - C21orf2_000051 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1198 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. 1 c.76T>C r.76u>c p.(Trp26Arg) Parent #2 - pathogenic (recessive) g.45759002A>G g.44339119A>G - - C21orf2_000072 - PubMed: Fadaie 2021 - - Germline no - - - - DNA SEQ-NG - - retinal disease Pat5 PubMed: Fadaie 2021 - - - Ireland - - - - - 1 Zeinab Fadaie
+/. - c.77+1G>C r.spl? p.? Unknown - pathogenic g.45759000C>G - - - C21orf2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.77+46_77+47insAGGGGCGGGGCGAGGGCGGAGCCGGAGGGAGGAGC r.(=) p.(=) Unknown - benign g.45758963_45758964insTCCGGCTCCGCCCTCGCCCCGCCCCTGCTCCTCCC g.44339080_44339081insTCCGGCTCCGCCCTCGCCCCGCCCCTGCTCCTCCC CFAP410(NM_001271441.2):c.77+46_77+47ins35 - C21orf2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.96+1G>A r.spl p.? Parent #2 - likely pathogenic (recessive) g.45757531C>T g.44337648C>T - - C21orf2_000071 - PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT803 PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+/. - c.96+1G>A r.spl p.(?) Both (homozygous) ACMG pathogenic g.45757531C>T g.44337648C>T C21orf2:NM_004928 c.96+1G>A, p.? - C21orf2_000071 homozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-147 PubMed: Rodriguez-Munoz 2020 family fRPN-58, family member F - Spain - - - - - 1 LOVD
+/. - c.96+1G>A r.spl p.(?) Both (homozygous) ACMG pathogenic g.45757531C>T g.44337648C>T C21orf2:NM_004928 c.96+1G>A, p.? - C21orf2_000071 homozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-148 PubMed: Rodriguez-Munoz 2020 family fRPN-58, proband F - Spain - - - - - 1 LOVD
+?/. - c.96+6T>A r.spl? p.(=) Parent #2 - likely pathogenic g.45757526A>T g.44337643A>T - - C21orf2_000043 - PubMed: Wheway 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - SRTD FamUCL78P1 PubMed: Wheway 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - United States white, Europe (north) - - - - 1 Johan den Dunnen
+?/. - c.96+6T>A r.spl? p.(?) Parent #1 - likely pathogenic g.45757526A>T g.44337643A>T CFAP410, variant 1: c.218G>C/p.R73P, variant 2: c.96+6T>A/p.? - C21orf2_000043 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1018 PubMed: Weisschuh 2020 Filing key number: 520, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.96+6T>A r.(=) p.(=) Unknown - VUS g.45757526A>T - C21orf2(NM_001271440.1):c.96+6T>A (p.(=)) - C21orf2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2i c.96+670_97-41del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.45755728_45756862del g.44335845_44336979del hg19 45755728-45756862del - C21orf2_000064 1135bp deletion PubMed: Gustafson 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES, WGS retinal disease FamPatII4 PubMed: Gustafson 2017 3-generation family, 3 affected (3F), unaffected heterozygous parents F yes United States Jewish-Ashkenazi - - - - 3 LOVD
+/. 3 c.103del r.(?) p.(Ile35Phefs*10) Both (homozygous) - pathogenic g.45755681del g.44335798del - - C21orf2_000001 - PubMed: Abu-Safieh-2013 - - Unknown - - - - - DNA SEQ-NG-I - - CORD - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
+/. - c.103del r.(?) p.(Ile35Phefs*10) Both (homozygous) - pathogenic (recessive) g.45755681del g.44335798del 103delA - C21orf2_000044 - PubMed: Wheway 2015 - - Germline - - - - - DNA SEQ - - CORD FamCR-F024P1 PubMed: Wheway 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes - - - - - - 1 Johan den Dunnen
+/. - c.103del r.(?) p.(Ile35Phefs*10) Both (homozygous) - pathogenic (recessive) g.45755681del g.44335798del NM_001271441.1:c.103delA:p.(Ile35Phefs*10) - C21orf2_000001 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG0973 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
?/. 3 c.103del r.(?) p.(Ile35Phefs*10) Both (homozygous) - VUS g.45755681del - c.103delA - C21orf2_000001 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG, SEQ blood autozygome-guided sequencing retinal disease - PubMed: Abu-Safieh-2013 # affected:3 (2) - - Saudi Arabia - - - - - 3 LOVD
+/. - c.115_117dup r.(?) p.(Met39dup) Unknown ACMG VUS g.45755668_45755670dup g.44335785_44335787dup - - C21orf2_000091 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-1433792 - Germline yes - - - - DNA SEQ-NG-I - - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 2701426 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - NONE 1 Rocio Villafuerte-de la Cruz
+?/. 3 c.137C>T r.(?) p.(Thr46Met) Unknown ACMG likely pathogenic g.45755647G>A g.44335764G>A NM_004928.2:c.137C>T, NP_004919.1:p.(Thr46Met), NC_000021.8:g.45755647G>A - C21orf2_000075 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2017010402 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. 3 c.137C>T r.(?) p.(Thr46Met) Unknown - likely pathogenic (recessive) g.45755647G>A - c.137C>T - C21orf2_000075 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
-/. - c.138G>A r.(?) p.(Thr46=) Unknown - benign g.45755646C>T g.44335763C>T CFAP410(NM_001271441.2):c.138G>A (p.T46=) - C21orf2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.143+8G>A r.(=) p.(=) Unknown - likely benign g.45755633C>T g.44335750C>T C21orf2(NM_001271441.1):c.143+8G>A - C21orf2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.144-856C>T r.(=) p.(=) Unknown - VUS g.45754001G>A g.44334118G>A - - C21orf2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.144-7C>T r.(=) p.(=) Unknown - likely benign g.45753152G>A g.44333269G>A C21orf2(NM_001271441.1):c.144-7C>T - C21orf2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i_4 c.144-6_159del r.spl p.? Unknown ACMG pathogenic g.45753135_45753156del g.44333252_44333273del NM_004928.2:c.144-6_159del, NP_004919.1:p.?, NC_000021.8:g.45753135_45753156del - C21orf2_000074 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2017010402 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. 4 c.144_159del r.(?) p.(Ser48Argfs*6) Unknown - likely pathogenic (recessive) g.45753130_45753145del - c.144_159del16bp - C21orf2_000081 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
?/. - c.172G>T r.(?) p.(Val58Leu) Unknown - VUS g.45753117C>A g.44333234C>A C21orf2(NM_001271440.1):c.172G>T (p.(Val58Leu)), C21orf2(NM_001271441.1):c.172G>T (p.V58L) - C21orf2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.172G>T r.(?) p.(Val58Leu) Unknown - likely benign g.45753117C>A g.44333234C>A C21orf2(NM_001271440.1):c.172G>T (p.(Val58Leu)), C21orf2(NM_001271441.1):c.172G>T (p.V58L) - C21orf2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.172G>T r.(?) p.(Val58Leu) Unknown ACMG VUS g.45753117C>A g.44333234C>A C21orf2:NM_004928 c.G172T, p.V58L - C21orf2_000013 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-299 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
-?/. - c.176G>A r.(?) p.(Ser59Asn) Unknown - likely benign g.45753113C>T g.44333230C>T CFAP410(NM_001271441.2):c.176G>A (p.S59N) - C21orf2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.182G>A r.(?) p.(Cys61Tyr) Both (homozygous) - pathogenic (recessive) g.45753107C>T g.44333224C>T - - C21orf2_000063 - PubMed: Khan 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat3 PubMed: Khan 2015 2-generation family, 1 affected, unaffected heterozygous mother/sister F yes Saudi Arabia - - - - - 1 LOVD
?/. 4 c.209G>A r.(?) p.(Arg70Gln) Both (homozygous) ACMG VUS g.45753080C>T g.44333197C>T - - C21orf2_000097 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074614 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.217C>T r.(?) p.(Arg73Cys) Unknown - VUS g.45753072G>A g.44333189G>A - - C21orf2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.218G>C r.(?) p.(Arg73Pro) Unknown - pathogenic g.45753071C>G g.44333188C>G - - C21orf2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Lionel 2018 - - Germline - - - - - DNA SEQ-NG - WGS RD 28771251-Pat40 PubMed: Lionel 2018 - M - Canada - - - - - 1 Johan den Dunnen
+/. - c.218G>C r.(?) p.(Arg73Pro) Paternal (confirmed) - pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Wheway 2015 - - Germline yes - - - - DNA SEQ - WES SRTD FamUCL-111P1/P2 PubMed: Wheway 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M - - white, Europe (north) - - - - 2 Johan den Dunnen
+/. - c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Wheway 2015 - - Germline yes - - - - DNA SEQ - - SRTD FamGC4693Pat1/2/3/4/5 PubMed: Wheway 2015 2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M - - - 00y00m15d - - - 1 Johan den Dunnen
+?/. - c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - likely pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - 1 Global Variome, with Curator vacancy
+?/. 4 c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - likely pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: McInerney-Leo 2017 - - Germline - - - - - DNA SEQ - - ? SKDP-144.3 PubMed: McInerney-Leo 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Australia - >30y - - - 1 Mariah De Bruin
+?/. 4 c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - likely pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Wang 2016 - rs140451304 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam8 PubMed: Wang 2016 2-generation family, 3 affected, (2F, M) unaffected heterozygous parents F;M yes Turkey - - - - - 3 LOVD
+?/. 4 c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - likely pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam9 PubMed: Wang 2016 2-generation family, 2 affected (F, M), unaffected heterozygous parents F - Sweden - - - - - 2 LOVD
+/. - c.218G>C r.(?) p.(Arg73Pro) Parent #1 - pathogenic (recessive) g.45753071C>G g.44333188C>G 21:45753071C>G ENST00000397956.3:c.218G>C (Arg73Pro) - C21orf2_000019 - PubMed: Carss 2017, PubMed: Turro 2020 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G004999 PubMed: Carss 2017, PubMed: Turro 2020 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - pathogenic (recessive) g.45753071C>G g.44333188C>G 21:45753071C>G ENST00000397956.3:c.218G>C (Arg73Pro) - C21orf2_000019 - PubMed: Carss 2017, PubMed: Turro 2020 - - Germline - - - - - DNA SEQ-NG - WES and WGS retinal disease G006005 PubMed: Carss 2017, PubMed: Turro 2020 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
?/. - c.218G>C r.(?) p.(Arg73Pro) Unknown ACMG VUS g.45753071C>G g.44333188C>G c.G218C - C21orf2_000019 - PubMed: Zhang 2016 - - Germline - - - - - DNA SEQ-NG - 226-gene panel retinal disease BLM033 PubMed: Zhang 2016 simplex case F - United States Hispanic - - - - 1 LOVD
+/. 4 c.218G>C r.218g>c p.(Arg73Pro) Both (homozygous) - pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Fadaie 2021 - - Germline yes - - - - DNA SEQ-NG - - retinal disease Pat6 PubMed: Fadaie 2021 - - - Ireland - - - - - 1 Zeinab Fadaie
+/. 4 c.218G>C r.218g>c p.(Arg73Pro) Parent #1 - pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Fadaie 2021 - - Germline no - - - - DNA SEQ-NG - - retinal disease Pat5 PubMed: Fadaie 2021 - - - Ireland - - - - - 1 Zeinab Fadaie
+?/. 4 c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) ACMG likely pathogenic g.45753071C>G g.44333188C>G - - C21orf2_000019 - Tracewska 2021, MolVis in press - - Germline yes 7,189 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 269 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+?/. - c.218G>C r.(?) p.(Arg73Pro) Unknown ACMG likely pathogenic g.45753071C>G g.44333188C>G C21orf2:NM_004928 c.G218C, p.R73P - C21orf2_000019 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-402 PubMed: Rodriguez-Munoz 2020 family fRPN-183, proband F - Spain - - - - - 1 LOVD
+?/. - c.218G>C r.(?) p.(Arg73Pro) Unknown ACMG likely pathogenic g.45753071C>G g.44333188C>G c.218G>C; p.(Arg73Pro) - C21orf2_000019 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-403 PubMed: Rodriguez-Munoz 2020 family fRPN-183, family member M - Spain - - - - - 1 LOVD
+?/. - c.218G>C r.(?) p.(Arg73Pro) Parent #1 - likely pathogenic g.45753071C>G g.44333188C>G CFAP410, variant 1: c.218G>C/p.R73P, variant 2: c.96+6T>A/p.? - C21orf2_000019 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1018 PubMed: Weisschuh 2020 Filing key number: 520, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.218G>C r.(?) p.(Arg73Pro) Unknown ACMG pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 ACMG PM2, PM1_SUPPORTING, PP5_STRONG, BP4, PS4_MODERATE PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-803 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. 4 c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) ACMG pathogenic g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067285 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 4 c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) ACMG pathogenic g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073880 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.224C>T r.(?) p.(Pro75Leu) Unknown - VUS g.45753065G>A g.44333182G>A CFAP410(NM_001271441.2):c.224C>T (p.P75L) - C21orf2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.246C>A r.(?) p.(Tyr82Ter) Unknown ACMG pathogenic g.45753043G>T g.44333160G>T C21orf2:NM_004928 c.C246A, p.Y82X - C21orf2_000079 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-402 PubMed: Rodriguez-Munoz 2020 family fRPN-183, proband F - Spain - - - - - 1 LOVD
+/. - c.246C>A r.(?) p.(Tyr82Ter) Unknown ACMG pathogenic g.45753043G>T g.44333160G>T c.246C>A; p.(Tyr82*) - C21orf2_000079 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-403 PubMed: Rodriguez-Munoz 2020 family fRPN-183, family member M - Spain - - - - - 1 LOVD
+/. - c.269G>C r.(?) p.(Arg90Pro) Parent #1 - pathogenic (recessive) g.45753020C>G g.44333137C>G 21:45753020C>G ENST00000397956.3:c.269G>C (Arg90Pro) - C21orf2_000065 - PubMed: Carss 2017, PubMed: Turro 2020 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005543 PubMed: Carss 2017, PubMed: Turro 2020 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
-?/. - c.276G>A r.(?) p.(Leu92=) Unknown - likely benign g.45753013C>T - CFAP410(NM_001271441.2):c.276G>A (p.L92=) - C21orf2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.286G>A r.(?) p.(Glu96Lys) Maternal (confirmed) ACMG likely pathogenic g.45753003C>T g.44333120C>T - - C21orf2_000003 - PubMed: de Castro-Miró 2016 - - Germline no - - - - DNA SEQ-NG-I Whole blood - SMDCRD A10.1 PubMed: de Castro-Miró 2016 - M no Spain - - - - - 1 Marta de Castro-Miró
+?/. - c.286G>A r.(?) p.(Glu96Lys) Parent #1 - likely pathogenic g.45753003C>T g.44333120C>T CFAP410, variant 1: c.286G>A/p.E96K, variant 2: c.286G>A/p.E96K - C21orf2_000003 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1073 PubMed: Weisschuh 2020 Filing key number: 696, cone-rod dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
?/. - c.293C>T r.(?) p.(Pro98Leu) Unknown ACMG VUS g.45752996G>A g.44333113G>A - - C21orf2_000093 ACMG PM2, PM1_SUPPORTING PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-803 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.316C>T r.(?) p.(Arg106Cys) Unknown ACMG VUS g.45752973G>A g.44333090G>A C21orf2:NM_004928 c.C316T, p.R106C - C21orf2_000078 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-285 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.319T>C r.(?) p.(Tyr107His) Both (homozygous) - likely pathogenic (recessive) g.45752970A>G g.44333087A>G - - C21orf2_000057 - PubMed: Kurashige 2019 - - Germline yes - - - - DNA SEQ - - ? FamPatII2 PubMed: Kurashige 2019 3-generation family, 2 affected sisters F yes Japan - >64y - - - 2 Mariah De Bruin
+?/. 4 c.319T>C r.(?) p.(Tyr107His) Both (homozygous) - likely pathogenic (recessive) g.45752970A>G g.44333087A>G - - C21orf2_000057 - PubMed: Kurashige 2019 - - Germline yes - - - - DNA SEQ - - ? FamPatII6 PubMed: Kurashige 2019 sister F yes Japan - >57y - - - 1 Mariah De Bruin
+?/. 4 c.319T>C r.(?) p.(Tyr107His) Parent #1 - likely pathogenic (recessive) g.45752970A>G g.44333087A>G - - C21orf2_000057 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam5 PubMed: Wang 2016 2-generation family, 1 affected, unaffected heterozygous parents M - Korea - - - - - 1 LOVD
+?/. 4 c.319T>C r.(?) p.(Tyr107His) Maternal (confirmed) - likely pathogenic (recessive) g.45752970A>G g.44333087A>G - - C21orf2_000057 - PubMed: Suga 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease Fam1 PubMed: Suga 2016 2-generation family, 2 affected (F, M), unaffected heterozygous parents F;M - Japan - - - - - 2 LOVD
+/. 4 c.319T>C r.(?) p.(Tyr107His) Paternal (confirmed) - pathogenic g.45752970A>G g.44333087A>G g.45752942T>C - C21orf2_000057 - - - - Germline ? - - - - DNA SEQ, SEQ-NG-I Blood - CORD - - - M no China - >07y - - none 1 SQ Yang
+?/. 4 c.320A>G r.(?) p.(Tyr107Cys) Both (homozygous) - likely pathogenic (recessive) g.45752969T>C g.44333086T>C - - C21orf2_000062 - PubMed: Suga 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease Fam2 PubMed: Suga 2016 2-generation family, 2 affected (F, M), unaffected heterozygous parents F;M - Japan - - - - - 2 LOVD
+?/. - c.320A>G r.(?) p.(Tyr107Cys) Both (homozygous) - likely pathogenic g.45752969T>C g.44333086T>C C21ORF2 c.320A>G, p.Y107C - C21orf2_000062 homozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 58 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
-?/. - c.330C>G r.(?) p.(Thr110=) Unknown - likely benign g.45752959G>C g.44333076G>C CFAP410(NM_001271441.2):c.330C>G (p.T110=) - C21orf2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.331G>A r.(?) p.(Val111Met) Unknown - VUS g.45752958C>T g.44333075C>T - - C21orf2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.331G>A r.(?) p.(Val111Met) Paternal (confirmed) - likely pathogenic (recessive) g.45752958C>T g.44333075C>T - - C21orf2_000018 - PubMed: Suga 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Fam1 PubMed: Suga 2016 2-generation family, 2 affected (F, M), unaffected heterozygous parents F;M - Japan - - - - - 2 LOVD
+?/. - c.335_346del r.(?) p.(Leu112_Leu115del) Parent #1 - likely pathogenic g.45752946_45752957del g.44333063_44333074del CFAP410, variant 1: c.335_346del/p.L112_L115del , variant 2: c.335_346del/p.L112_L115del - C21orf2_000080 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 810 PubMed: Weisschuh 2020 Filing key number: 326, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 4 c.347C>T r.(?) p.(Pro116Leu) Parent #2 - likely pathogenic (recessive) g.45752942G>A g.44333059G>A - - C21orf2_000061 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam5 PubMed: Wang 2016 2-generation family, 1 affected, unaffected heterozygous parents M - Korea - - - - - 1 LOVD
+?/. 4 c.347C>T r.(?) p.(Pro116Leu) Paternal (confirmed) - likely pathogenic g.45752942G>A g.44333059G>A g.45752970C>T - C21orf2_000061 - - - - Germline - - - - - DNA SEQ, SEQ-NG-I Blood - CORD - - - M no China - >07y - - none 1 SQ Yang
+/. - c.347C>T r.(?) p.(Pro116Leu) Unknown ACMG likely pathogenic g.45752942G>A g.44333059G>A - - C21orf2_000061 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-428581 rs922930539 Germline yes - - - - DNA SEQ-NG-I - - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 2701426 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - NONE 1 Rocio Villafuerte-de la Cruz
+?/. - c.352_353insACCCTGCCGCGC r.(?) p.(Arg117_Leu118insHisProAlaAla) Parent #1 - likely pathogenic (recessive) g.45752937_45752938insCGCGGCAGGGTG g.44333054_44333055insCGCGGCAGGGTG - - C21orf2_000070 - PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT803 PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.364G>A r.(?) p.(Asp122Asn) Unknown ACMG likely pathogenic g.45752925C>T - - - C21orf2_000055 - 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.364G>C r.(?) p.(Asp122His) Unknown ACMG VUS g.45752925C>G g.44333042C>G c.G364C - C21orf2_000069 - PubMed: Zhang 2016 - - Germline - - - - - DNA SEQ-NG - 226-gene panel retinal disease BLM033 PubMed: Zhang 2016 simplex case F - United States Hispanic - - - - 1 LOVD
-?/. - c.374-16_374-13del r.(=) p.(=) Unknown - likely benign g.45751913_45751916del - CFAP410(NM_001271441.2):c.374-16_374-13delGTCT - C21orf2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.374-5C>T r.(?) p.(?) Unknown - likely benign g.45751902G>A - - - C21orf2_000098 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4i c.374-3A>T r.spl? p.(?) Unknown ACMG VUS g.45751900T>A g.44332017T>A c.374-3A>T, Splice - C21orf2_000076 Heterozygous PubMed: Birtel 2018 - rs770721510 Germline yes - - - - DNA SEQ-NG blood - retinal disease 41 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
?/. - c.380C>T r.(?) p.(Thr127Met) Unknown - VUS g.45751891G>A g.44332008G>A CFAP410(NM_001271441.2):c.380C>T (p.T127M) - C21orf2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.398G>A r.(?) p.(Arg133His) Unknown - likely benign g.45751873C>T g.44331990C>T CFAP410(NM_001271441.2):c.398G>A (p.R133H) - C21orf2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.426T>C r.(?) p.(=) Unknown - likely benign g.45751845A>G - CFAP410(NM_001271441.2):c.426T>C (p.T142=) - C21orf2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.432C>A r.(?) p.(Ala144=) Unknown - pathogenic g.45751839G>T - CFAP410(NM_001271441.1):c.432C>A (p.A144=) - C21orf2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.433_434del r.(?) p.(Pro145Argfs*24) Unknown - pathogenic g.45751839_45751840del - CFAP410(NM_001271441.1):c.433_434delCC (p.P145Rfs*24) - C21orf2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.436G>C r.(?) p.(Glu146Gln) Unknown - likely benign g.45751835C>G g.44331952C>G C21orf2(NM_001271441.1):c.436G>C (p.E146Q) - C21orf2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.436_466del r.(?) p.(Glu146Serfs*6) Both (homozygous) - pathogenic (recessive) g.45751814_45751844del g.44331931_44331961del - - C21orf2_000060 - PubMed: Khan 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat1 PubMed: Khan 2015 2-generation family, 1 affected, unaffected parents F yes Saudi Arabia - - - - - 1 LOVD
+/. 5 c.436_466del r.(?) p.(Glu146Serfs*6) Both (homozygous) - pathogenic (recessive) g.45751814_45751844del g.44331931_44331961del - - C21orf2_000060 - PubMed: Khan 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat2 PubMed: Khan 2015 2-generation family, 1 affected, unaffected parents F yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.443_444del r.(?) p.(Glu148GlyfsTer21) Unknown - likely pathogenic g.45751835_45751836del g.44331952_44331953del - - C21orf2_000052 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.443_444del r.(?) p.(Glu148GlyfsTer21) Unknown ACMG pathogenic (recessive) g.45751835_45751836del g.44331952_44331953del - - C21orf2_000052 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1198 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
-?/. - c.445G>C r.(?) p.(Gly149Arg) Unknown - likely benign g.45751826C>G - CFAP410(NM_001271441.1):c.445G>C (p.G149R) - C21orf2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.480_481insT r.(?) p.(Leu161Serfs*9) Parent #1 - pathogenic (recessive) g.45751790_45751791insA g.44331907_44331908insA - - C21orf2_000042 - PubMed: Wheway 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - SRTD FamUCL78P1 PubMed: Wheway 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - United States white, Europe (north) - - - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.