Full data view for gene C1QTNF5

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

312 entries on 4 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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.-8723_-2583+41del r.(=) p.(=) Unknown - likely pathogenic g.119217129_119223310del - chr11:g.119217129_119223310del - C1QTNF5_000064 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001421 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
-/. - c.-2724C>T r.(?) p.(=) Unknown - benign g.119217311G>A g.119346601G>A - - C1QTNF5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2667G>A r.(?) p.(=) Unknown - benign g.119217254C>T g.119346544C>T - - C1QTNF5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2667G>A r.(=) p.(=) Unknown - likely benign g.119217254C>T g.119346544C>T MFRP c.1-31G>A, codon change: GGA-GAA - C1QTNF5_000030 heterozygous; not determined in controls PubMed: Wang 2009 - rs883247 Unknown ? 26/51 affected patients, not determined in 96 normal controls - - - DNA SEQ blood - retinal disease ? PubMed: Wang 2009 case-control study: 51 cases, 96 controls ? - - Chinese - - - - 1 LOVD
-?/. - c.-2582-17_-2582-14dup r.(=) p.(=) Unknown - likely benign g.119217098_119217101dup g.119346388_119346391dup MFRP c.55-14_55-13insGTAT, codon change: No effect - C1QTNF5_000085 heterozygous; no statistical significance PubMed: Wang 2009 - - Unknown ? 3/51 affected patients, 7/96 normal controls - - - DNA SEQ blood - retinal disease ? PubMed: Wang 2009 case-control study: 51 cases, 96 controls ? - - Chinese - - - - 1 LOVD
-/. - c.-2565T>C r.(?) p.(=) Unknown - benign g.119217067A>G g.119346357A>G C1QTNF5(NM_015645.5):c.-2565T>C, MFRP(NM_031433.4):c.72T>C (p.P24=) - C1QTNF5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2497T>C r.(?) p.(=) Unknown - benign g.119216999A>G g.119346289A>G C1QTNF5(NM_015645.5):c.-2497T>C, MFRP(NM_031433.4):c.140T>C (p.V47A) - C1QTNF5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2480+7A>G r.(=) p.(=) Unknown - likely benign g.119216975T>C - C1QTNF5(NM_015645.5):c.-2480+7A>G - C1QTNF5_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2468C>T r.(?) p.(=) Unknown - pathogenic g.119216858G>A - - - C1QTNF5_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2446G>A r.(?) p.(=) Unknown - likely benign g.119216836C>T g.119346126C>T MFRP(NM_031433.3):c.191G>A (p.R64H) - C1QTNF5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2445C>G r.(?) p.(=) Unknown - likely benign g.119216835G>C g.119346125G>C MFRP(NM_031433.4):c.192C>G (p.R64=) - C1QTNF5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2445C>G r.(=) p.(=) Unknown - likely benign g.119216835G>C g.119346125G>C MFRP Arg64Arg (c.192C>G) - C1QTNF5_000044 genotype, cases (%), controls(%): CC, 97, 0.98%, 88, 0.99%; CG, 2, 0.02%, 1, 0.01%; GG, 0, 0.0%, 0, 0.0% PubMed: Aung 2008 - - Unknown ? genotype, cases (%), controls(%): CC, 97, 0.98%, 88, 0.99%; CG, 2, 0.02%, 1, 0.01%; GG, 0, 0.0%, 0, 0.0% - - - DNA SEQ blood - retinal disease ? PubMed: Aung 2008 case-control study ? - - Chinese - - - - 1 LOVD
-?/. - c.-2445C>G r.(=) p.(=) Unknown - likely benign g.119216835G>C g.119346125G>C MFRP c.192C>G, codon change: CGC-CGG - C1QTNF5_000044 heterozygous; not present in controls PubMed: Wang 2009 - - Unknown ? 1/51 affected patients, 0/96 normal controls - - - DNA SEQ blood - retinal disease ? PubMed: Wang 2009 case-control study: 51 cases, 96 controls ? - - Chinese - - - - 1 LOVD
-/. - c.-2442C>T r.(?) p.(=) Unknown - benign g.119216832G>A g.119346122G>A C1QTNF5(NM_015645.5):c.-2442C>T, MFRP(NM_031433.3):c.195C>T (p.F65=), MFRP(NM_031433.4):c.195C>T (p.F65=) - C1QTNF5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2442C>T r.(?) p.(=) Unknown - likely benign g.119216832G>A g.119346122G>A C1QTNF5(NM_015645.5):c.-2442C>T, MFRP(NM_031433.3):c.195C>T (p.F65=), MFRP(NM_031433.4):c.195C>T (p.F65=) - C1QTNF5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2436G>A r.(?) p.(=) Unknown - pathogenic g.119216826C>T g.119346116C>T MFRP(NM_031433.3):c.201G>A (p.W67*) - C1QTNF5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2436G>A r.(?) p.(=) Unknown - pathogenic g.119216826C>T - MFRP(NM_031433.3):c.201G>A (p.W67*) - C1QTNF5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-2436G>A r.(=) p.(=) Parent #1 - likely pathogenic g.119216826C>T g.119346116C>T MFRP c.201G>A (het); p.Trp67X - C1QTNF5_000038 heterozygous PubMed: Mukhopadhyay 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2_III-2 PubMed: Mukhopadhyay 2010 - F - - - - - - - 1 LOVD
+?/. - c.-2436G>A r.(=) p.(=) Parent #1 - likely pathogenic g.119216826C>T g.119346116C>T MFRP c.201G>A (het); p.Trp67X - C1QTNF5_000038 heterozygous PubMed: Mukhopadhyay 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2_III-3 PubMed: Mukhopadhyay 2010 - F - - - - - - - 1 LOVD
-?/. - c.-2351C>A r.(?) p.(=) Unknown - likely benign g.119216624G>T g.119345914G>T C1QTNF5(NM_015645.5):c.-2351C>A, MFRP(NM_031433.4):c.286C>A (p.P96T) - C1QTNF5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2350_-2346del r.(=) p.(=) Maternal (confirmed) ACMG pathogenic g.119216619_119216623del g.119345909_119345913del MFRP c.287_291delCCCCA, p.P96Lfs*6 - C1QTNF5_000084 heterozygous PubMed: Xu 2016 - - Germline yes 0/384 controls - - - DNA SEQ blood - retinal disease QT1372II:1 PubMed: Xu 2016 - F - China Chinese - - - - 1 LOVD
+/. - c.-2339del r.(?) p.(=) Unknown - pathogenic g.119216615del - - - C1QTNF5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2302C>T r.(?) p.(=) Unknown - VUS g.119216575G>A g.119345865G>A MFRP(NM_031433.3):c.335C>T (p.T112M) - C1QTNF5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-2270C>T r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.119216543G>A g.119345833G>A MFRP c.367c>t (Q123X) - C1QTNF5_000083 heterozygous PubMed: Matsushita 2012 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Matsushita 2012 - F - Japan Japanese - - - - 1 LOVD
?/. - c.-2233G>T r.(?) p.(=) Unknown - VUS g.119216506C>A - MFRP(NM_031433.3):c.404G>T (p.G135V) - C1QTNF5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2231G>A r.(?) p.(=) Unknown - benign g.119216504C>T g.119345794C>T C1QTNF5(NM_015645.5):c.-2231G>A, MFRP(NM_031433.4):c.406G>A (p.V136M) - C1QTNF5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2231G>A r.(?) p.(=) Unknown - benign g.119216504C>T g.119345794C>T C1QTNF5(NM_015645.5):c.-2231G>A, MFRP(NM_031433.4):c.406G>A (p.V136M) - C1QTNF5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2231G>A r.(=) p.(=) Unknown - likely benign g.119216504C>T g.119345794C>T MFRP Val136Met (c.406G>A) - C1QTNF5_000022 genotype, cases (%), controls(%): GG, 79, 0.74%, 65, 0.70%; GA, 27, 0.25%, 27, 0.29%; AA, 1, 0.01%, 1, 0.01% PubMed: Aung 2008 - rs3814762 Unknown ? genotype, cases (%), controls(%): GG, 79, 0.74%, 65, 0.70%; GA, 27, 0.25%, 27, 0.29%; AA, 1, 0.01%, 1, 0.01% - - - DNA SEQ blood - retinal disease ? PubMed: Aung 2008 case-control study ? - - Chinese - - - - 1 LOVD
-?/. - c.-2231G>A r.(=) p.(=) Unknown - likely benign g.119216504C>T g.119345794C>T MFRP c.406G>A, codon change: GTG-ATG - C1QTNF5_000022 heterozygous; not determined in controls PubMed: Wang 2009 - rs3814762 Unknown ? 20/51 affected patients, not determined in 96 normal controls - - - DNA SEQ blood - retinal disease ? PubMed: Wang 2009 case-control study: 51 cases, 96 controls ? - - Chinese - - - - 1 LOVD
-/. - c.-2152A>G r.(?) p.(=) Unknown - benign g.119216286T>C g.119345576T>C MFRP(NM_031433.4):c.485A>G (p.D162G) - C1QTNF5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-2146_-2145insT r.(=) p.(=) Parent #2 - likely pathogenic g.119216279_119216280insA g.119345569_119345570insA MFRP c.491_492 insT (het); p.Asn167Gln fs34X - C1QTNF5_000082 heterozygous PubMed: Mukhopadhyay 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2_III-2 PubMed: Mukhopadhyay 2010 - F - - - - - - - 1 LOVD
+?/. - c.-2146_-2145insT r.(=) p.(=) Parent #2 - likely pathogenic g.119216279_119216280insA g.119345569_119345570insA MFRP c.491_492 insT (het); p.Asn167Gln fs34X - C1QTNF5_000082 heterozygous PubMed: Mukhopadhyay 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2_III-3 PubMed: Mukhopadhyay 2010 - F - - - - - - - 1 LOVD
-?/. - c.-2145C>T r.(=) p.(=) Unknown - likely benign g.119216279G>A g.119345569G>A MFRP Tyr164Tyr (c.492C>T) - C1QTNF5_000081 genotype, cases (%), controls(%): CC, 64, 0.60%, 58, 0.62%; CT, 36, 0.34%, 32, 0.35%; TT, 7, 0.06%, 3, 0.03% PubMed: Aung 2008 - rs36015759 Unknown ? genotype, cases (%), controls(%): CC, 64, 0.60%, 58, 0.62%; CT, 36, 0.34%, 32, 0.35%; TT, 7, 0.06%, 3, 0.03% - - - DNA SEQ blood - retinal disease ? PubMed: Aung 2008 case-control study ? - - Chinese - - - - 1 LOVD
-?/. - c.-2145C>T r.(=) p.(=) Unknown - likely benign g.119216279G>A g.119345569G>A MFRP c.492C>T, codon change: TAC-TAT - C1QTNF5_000081 heterozygous; no statistical significance PubMed: Wang 2009 - rs36015759 Unknown ? 20/51 affected patients, 36/96 normal controls - - - DNA SEQ blood - retinal disease ? PubMed: Wang 2009 case-control study: 51 cases, 96 controls ? - - Chinese - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.119216279del g.119345569del MFRP 492delC - C1QTNF5_000020 heterozygous PubMed: Sundin 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease C_II:1 PubMed: Sundin 2005 kindred C F - - - - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.119216279del g.119345569del MFRP 492delC - C1QTNF5_000020 heterozygous PubMed: Sundin 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease C_II:2 PubMed: Sundin 2005 kindred C F - - - - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.498delC, P166fsX190 - C1QTNF5_000020 homozygous; error in annotation, first amino acid affected rule shifts it to p.(Asn167Thrfs*25) PubMed: Crespi 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 1 PubMed: Crespi 2008 parents first cousins ? yes - Spanish - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.498delC, P166fsX190 - C1QTNF5_000020 homozygous; error in annotation, first amino acid affected rule shifts it to p.(Asn167Thrfs*25) PubMed: Crespi 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 2 PubMed: Crespi 2008 parents first cousins ? yes - Spanish - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.498delC, P166fsX190 - C1QTNF5_000020 homozygous; error in annotation, first amino acid affected rule shifts it to p.(Asn167Thrfs*25) PubMed: Crespi 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 3 PubMed: Crespi 2008 parents first cousins ? yes - Spanish - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.498delC, p.Asn167ThrfsX25 - C1QTNF5_000020 homozygous PubMed: Zenteno 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient #1 PubMed: Zenteno 2009 Patient #1, sister of Patient #2 F - - Mexican - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.498delC, p.Asn167ThrfsX25 - C1QTNF5_000020 homozygous PubMed: Zenteno 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient #2 PubMed: Zenteno 2009 Patient #2, brother of Patient #21 M - - Mexican - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.492 delC (homo); p.Asn167Thr fs25X - C1QTNF5_000020 homozygous PubMed: Mukhopadhyay 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 3_II-1 PubMed: Mukhopadhyay 2010 - M - - - - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Paternal (confirmed) - likely pathogenic g.119216279del g.119345569del MFRP c.498delC, p.Asn167ThrfsX25 - C1QTNF5_000020 heterozygous PubMed: Dinculescu 2012 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Dinculescu 2012 - F no - German/English/ French - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP 492delC (alternatively named c.498delC), P166fsX190 - C1QTNF5_000020 homozygous PubMed: Neri 2012 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Neri 2012 - F - - Mexican - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.498del, p.(Asn167Thrfs*25) - C1QTNF5_000020 homozygous PubMed: Ritter 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient No 2 PubMed: Ritter 2013 Turkish family, proband's son M - Austria Turkish - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Unknown - likely pathogenic g.119216279del g.119345569del MFRP c.498del, p.(Asn167Thrfs*25) - C1QTNF5_000020 heterozygous PubMed: Ritter 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient No 1 PubMed: Ritter 2013 Turkish family, proband F - Austria Turkish - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Parent #1 - likely pathogenic g.119216279del g.119345569del MFRP c.492delC - C1QTNF5_000020 heterozygous PubMed: Zacharias 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Zacharias 2015 - F - - - - - - topical dorsolamide: 2% 4 times a day as an attempt to reduce the cystoid macular edema for two months 1 LOVD
+/. - c.-2145del r.(=) p.(=) Both (homozygous) - pathogenic g.119216279del g.119345569del MFRP c.498del, p.(Asn167Thrfs*25) - C1QTNF5_000020 homozygous PubMed: Morillo Sanchez 2019 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood clinical exome retinal disease III-1 PubMed: Morillo Sanchez 2019 Spanish family, sibling 1 F yes Spain Spanish - - - - 1 LOVD
+/. - c.-2145del r.(=) p.(=) Both (homozygous) - pathogenic g.119216279del g.119345569del MFRP c.498del, p.(Asn167Thrfs*25) - C1QTNF5_000020 homozygous PubMed: Morillo Sanchez 2019 - - Germline yes - - - - DNA SEQ blood clinical exome retinal disease III- 2 PubMed: Morillo Sanchez 2019 Spanish family, sibling 2 F yes Spain Spanish - - - - 1 LOVD
+/. - c.-2145del r.(=) p.(=) Both (homozygous) - pathogenic g.119216279del g.119345569del MFRP c.498del, p.(Asn167Thrfs*25) - C1QTNF5_000020 homozygous PubMed: Morillo Sanchez 2019 - - Germline yes - - - - DNA SEQ blood clinical exome retinal disease III- 3 PubMed: Morillo Sanchez 2019 Spanish family, sibling 3 M yes Spain Spanish - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.498delC, p.Asn167fs (hom) - C1QTNF5_000020 homozygous PubMed: Guo 2019 - - Germline yes GnomAD: 31/274316 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease 11 PubMed: Guo 2019 Trio number 11 - - China Chinese - - - - 1 LOVD
+?/. - c.-2145dup r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279dup g.119345569dup MFRP c.498_499insC, P165fsX198 - MFRP_000006 homozygous; error in annotation, moved to c.498dup, first amino acid affected rule shifts it to p.(Asn167Glnfs*34) PubMed: Ayala-Ramirez 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 1 PubMed: Ayala-Ramirez 2006 proband F yes - Mexican - - - - 1 LOVD
+?/. - c.-2145dup r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279dup g.119345569dup MFRP c.498_499insC, P165fsX198 - MFRP_000006 homozygous; error in annotation, moved to c.498dup, first amino acid affected rule shifts it to p.(Asn167Glnfs*34) PubMed: Ayala-Ramirez 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 2 PubMed: Ayala-Ramirez 2006 proband's sibling 1 M yes - Mexican - - - - 1 LOVD
+?/. - c.-2145dup r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279dup g.119345569dup MFRP c.498_499insC, P165fsX198 - MFRP_000006 homozygous; error in annotation, moved to c.498dup, first amino acid affected rule shifts it to p.(Asn167Glnfs*34) PubMed: Ayala-Ramirez 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 3 PubMed: Ayala-Ramirez 2006 proband's sibling 2 F yes - Mexican - - - - 1 LOVD
+?/. - c.-2145dup r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279dup g.119345569dup MFRP c.498_499insC, P165fsX198 - MFRP_000006 homozygous; error in annotation, moved to c.498dup, first amino acid affected rule shifts it to p.(Asn167Glnfs*34) PubMed: Ayala-Ramirez 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 4 PubMed: Ayala-Ramirez 2006 proband's sibling 3 M yes - Mexican - - - - 1 LOVD
+?/. - c.-2145dup r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279dup g.119345569dup MFRP c.498dup, p.(Asn167fs) - MFRP_000006 homozygous PubMed: Wasmann 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease Case 1 PubMed: Wasmann 2014 sister of case 2 F - - - - - - - 1 LOVD
+?/. - c.-2145dup r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279dup g.119345569dup MFRP c.498dup, p.(Asn167fs) - MFRP_000006 homozygous PubMed: Wasmann 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease Case 2 PubMed: Wasmann 2014 sister of case 1 F - - - - - - - 1 LOVD
-?/. - c.-2141C>G r.(?) p.(=) Unknown - likely benign g.119216275G>C g.119345565G>C C1QTNF5(NM_015645.5):c.-2141C>G, MFRP(NM_031433.3):c.496C>G (p.P166A) - C1QTNF5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2141C>G r.(?) p.(=) Unknown - VUS g.119216275G>C g.119345565G>C C1QTNF5(NM_015645.5):c.-2141C>G, MFRP(NM_031433.3):c.496C>G (p.P166A) - C1QTNF5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2141C>G r.(=) p.(=) Unknown - likely benign g.119216275G>C g.119345565G>C MFRP c.496C>G, codon change: CCC-GCC - C1QTNF5_000035 heterozygous; no statistical significance PubMed: Wang 2009 - - Unknown ? 1/51 affected patients, 3/96 normal controls - - - DNA SEQ blood - retinal disease ? PubMed: Wang 2009 case-control study: 51 cases, 96 controls ? - - Chinese - - - - 1 LOVD
+/. - c.-2139del r.(?) p.(=) Unknown - pathogenic g.119216279del g.119345569del MFRP(NM_031433.4):c.498del (p.(Asn167ThrfsTer25)), MFRP(NM_031433.4):c.498delC (p.N167Tfs*25) - C1QTNF5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2139del r.(?) p.(=) Unknown - pathogenic g.119216279del - MFRP(NM_031433.4):c.498del (p.(Asn167ThrfsTer25)), MFRP(NM_031433.4):c.498delC (p.N167Tfs*25) - C1QTNF5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2139del r.(?) p.(=) Unknown - pathogenic g.119216279del - MFRP(NM_031433.4):c.498del (p.(Asn167ThrfsTer25)), MFRP(NM_031433.4):c.498delC (p.N167Tfs*25) - C1QTNF5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-2114C>T r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216248G>A g.119345538G>A MFRP Q175X - C1QTNF5_000071 homozygous PubMed: Sundin 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease B_1 PubMed: Sundin 2005 kindred A M - - - - - - - 1 LOVD
-/. - c.-2097T>C r.(?) p.(=) Unknown - benign g.119216231A>G g.119345521A>G C1QTNF5(NM_015645.5):c.-2097T>C, MFRP(NM_031433.4):c.540T>C (p.H180=) - C1QTNF5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2097T>C r.(?) p.(=) Unknown - benign g.119216231A>G g.119345521A>G C1QTNF5(NM_015645.5):c.-2097T>C, MFRP(NM_031433.4):c.540T>C (p.H180=) - C1QTNF5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2097T>C r.(=) p.(=) Unknown - likely benign g.119216231A>G g.119345521A>G MFRP His180His (c.540 C>T) - C1QTNF5_000019 genotype, cases (%), controls(%): CC, 69, 0.68%, 72, 0.78%; CT, 28, 0.28%, 19, 0.20%; TT, 4, 0.04%, 2, 0.02% PubMed: Aung 2008 - rs2510143 Unknown ? genotype, cases (%), controls(%): CC, 69, 0.68%, 72, 0.78%; CT, 28, 0.28%, 19, 0.20%; TT, 4, 0.04%, 2, 0.02% - - - DNA SEQ blood - retinal disease ? PubMed: Aung 2008 case-control study ? - - Chinese - - - - 1 LOVD
-?/. - c.-2097T>C r.(=) p.(=) Unknown - likely benign g.119216231A>G g.119345521A>G MFRP c.540T>C, codon change: CAT-CAC - C1QTNF5_000019 heterozygous; no statistical significance PubMed: Wang 2009 - rs2510143 Unknown ? 51/51 affected patients, 95/96 normal controls - - - DNA SEQ blood - retinal disease ? PubMed: Wang 2009 case-control study: 51 cases, 96 controls ? - - Chinese - - - - 1 LOVD
-?/. - c.-2094A>C r.(?) p.(=) Unknown - likely benign g.119216228T>G g.119345518T>G MFRP(NM_031433.3):c.543A>C (p.A181=) - C1QTNF5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-2092T>C r.(=) p.(=) Paternal (confirmed) - likely pathogenic g.119216226A>G g.119345516A>G MFRP I182T - C1QTNF5_000070 heterozygous PubMed: Sundin 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease C_II:1 PubMed: Sundin 2005 kindred C F - - - - - - - 1 LOVD
+?/. - c.-2092T>C r.(=) p.(=) Paternal (confirmed) - likely pathogenic g.119216226A>G g.119345516A>G MFRP I182T - C1QTNF5_000070 heterozygous PubMed: Sundin 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease C_II:2 PubMed: Sundin 2005 kindred C F - - - - - - - 1 LOVD
+?/. - c.-2064_-2063del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216197_119216198del g.119345487_119345488del MFRP c.577_578delAG, p.Ser193fs (hom) - C1QTNF5_000080 homozygous PubMed: Guo 2019 - - Germline yes GnomAD: 0 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease 5 PubMed: Guo 2019 Trio number 5 - - China Chinese - - - - 1 LOVD
?/. - c.-2036C>T r.(?) p.(=) Unknown - VUS g.119216170G>A g.119345460G>A MFRP(NM_031433.3):c.601C>T (p.R201C) - C1QTNF5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2008G>T r.(?) p.(=) Unknown - likely benign g.119216142C>A g.119345432C>A MFRP(NM_031433.3):c.629G>T (p.G210V) - C1QTNF5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2008G>T r.(=) p.(=) Parent #1 - VUS g.119216142C>A g.119345432C>A - - C1QTNF5_000017 conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150902999 Germline - 12/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
-?/. - c.-1996+9C>T r.(=) p.(=) Unknown - likely benign g.119216121G>A g.119345411G>A C1QTNF5(NM_015645.4):c.-1996+9C>T, C1QTNF5(NM_015645.5):c.-1996+9C>T, MFRP(NM_031433.3):c.641+9C>T, MFRP(NM_031433.4):c.641+9C>T - C1QTNF5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1996+9C>T r.(=) p.(=) Unknown - benign g.119216121G>A g.119345411G>A C1QTNF5(NM_015645.4):c.-1996+9C>T, C1QTNF5(NM_015645.5):c.-1996+9C>T, MFRP(NM_031433.3):c.641+9C>T, MFRP(NM_031433.4):c.641+9C>T - C1QTNF5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-1995-2A>G r.spl? p.? Unknown - likely pathogenic g.119215716T>C g.119345006T>C C1QTNF5(NM_015645.4):c.-1995-2A>G, MFRP(NM_031433.3):c.642-2A>G - C1QTNF5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-1976C>T r.(=) p.(=) Unknown - likely pathogenic g.119215695G>A g.119344985G>A MFRP c.661C>T, p.Pro221Ser (het) - C1QTNF5_000079 heterozygous PubMed: Guo 2019 - - Germline yes GnomAD: 3/226800 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease 9 PubMed: Guo 2019 Trio number 9 - - China Chinese - - - - 1 LOVD
+?/. - c.-1976dup r.(=) p.(=) Both (homozygous) - likely pathogenic g.119215695dup g.119344985dup MFRP: c.[666dup];[666dup], p.[T223HfsX16]; [T223HfsX16] - MFRP_000002 homozygous PubMed: Nowilaty 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease F13-P25 PubMed: Nowilaty 2013 Family 13 M - - - - - - - 1 LOVD
-?/. - c.-1973C>A r.(=) p.(=) Unknown - likely benign g.119215692G>T g.119344982G>T MFRP c.664C>A, codon change: CCC-ACC - C1QTNF5_000078 heterozygous; not present in controls PubMed: Wang 2009 - - Unknown ? 1/51 affected patients, 0/96 normal controls - - - DNA SEQ blood - retinal disease ? PubMed: Wang 2009 case-control study: 51 cases, 96 controls ? - - Chinese - - - - 1 LOVD
+?/. - c.-1973C>A r.(=) p.(=) Maternal (confirmed) ACMG likely pathogenic g.119215692G>T g.119344982G>T MFRP c.664C>A, p.P222T - C1QTNF5_000078 heterozygous PubMed: Xu 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease QT929II:1 PubMed: Xu 2016 - M - China Chinese - - - - 1 LOVD
+?/. - c.-1973C>A r.(=) p.(=) Maternal (confirmed) ACMG likely pathogenic g.119215692G>T g.119344982G>T MFRP c.664C>A, p.P222T - C1QTNF5_000078 heterozygous PubMed: Xu 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease QT929II:2 PubMed: Xu 2016 - F - China Chinese - - - - 1 LOVD
-?/. - c.-1971C>A r.(?) p.(=) Unknown - likely benign g.119215690G>T - MFRP(NM_031433.3):c.666C>A (p.P222=) - C1QTNF5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1968G>A r.(=) p.(=) Unknown - likely benign g.119215687C>T g.119344977C>T MFRP c.669G>A, codon change: ACG-ACA - C1QTNF5_000077 heterozygous; not present in controls PubMed: Wang 2009 - - Unknown ? 2/51 affected patients, 0/96 normal controls - - - DNA SEQ blood - retinal disease ? PubMed: Wang 2009 case-control study: 51 cases, 96 controls ? - - Chinese - - - - 1 LOVD
+?/. - c.-1891G>A r.(=) p.(=) Both (homozygous) - likely pathogenic g.119215610C>T g.119344900C>T MFRP c.746G>A, p.(Trp249*) - C1QTNF5_000076 homozygous PubMed: Mameesh 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease patient 1 PubMed: Mameesh 2017 sibling 1: co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings M - Oman Omani - - - - 1 LOVD
+?/. - c.-1891G>A r.(=) p.(=) Both (homozygous) - likely pathogenic g.119215610C>T g.119344900C>T MFRP c.746G>A, p.(Trp249*) - C1QTNF5_000076 homozygous PubMed: Mameesh 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease patient 2 PubMed: Mameesh 2017 sibling 2: co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings F - Oman Omani - - - - 1 LOVD
+?/. - c.-1891G>A r.(=) p.(=) Both (homozygous) - likely pathogenic g.119215610C>T g.119344900C>T MFRP c.746G>A, p.(Trp249*) - C1QTNF5_000076 homozygous PubMed: Mameesh 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease patient 3 PubMed: Mameesh 2017 sibling 3: co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings F - Oman Omani - - - - 1 LOVD
-?/. - c.-1867G>A r.(=) p.(=) Unknown - likely benign g.119215586C>T g.119344876C>T MFRP Arg257His (c.770 G>A) - C1QTNF5_000075 genotype, cases (%), controls(%): GG, 103, 0.98%, 93, 1.0%; GA, 2, 0.02%, 0, 0.0%; AA, 0, 0.0%, 0, 0.0% PubMed: Aung 2008 - - Unknown ? genotype, cases (%), controls(%): GG, 103, 0.98%, 93, 1.0%; GA, 2, 0.02%, 0, 0.0%; AA, 0, 0.0%, 0, 0.0% - - - DNA SEQ blood - retinal disease ? PubMed: Aung 2008 case-control study ? - - Chinese - - - - 1 LOVD
-?/. - c.-1867G>A r.(=) p.(=) Unknown - likely benign g.119215586C>T g.119344876C>T MFRP c.770G>A, codon change: CGC-CAC - C1QTNF5_000075 heterozygous; no statistical significance PubMed: Wang 2009 - - Unknown ? 1/51 affected patients, 2/96 normal controls - - - DNA SEQ blood - retinal disease ? PubMed: Wang 2009 case-control study: 51 cases, 96 controls ? - - Chinese - - - - 1 LOVD
-/. - c.-1864-9C>T r.(=) p.(=) Unknown - benign g.119215476G>A g.119344766G>A C1QTNF5(NM_015645.4):c.-1864-9C>T, C1QTNF5(NM_015645.5):c.-1864-9C>T, MFRP(NM_031433.3):c.773-9C>T, MFRP(NM_031433.4):c.773-9C>T - C1QTNF5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1864-9C>T r.(=) p.(=) Unknown - likely benign g.119215476G>A g.119344766G>A C1QTNF5(NM_015645.4):c.-1864-9C>T, C1QTNF5(NM_015645.5):c.-1864-9C>T, MFRP(NM_031433.3):c.773-9C>T, MFRP(NM_031433.4):c.773-9C>T - C1QTNF5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1864-8A>C r.(=) p.(=) Unknown - likely benign g.119215475T>G g.119344765T>G C1QTNF5(NM_015645.5):c.-1864-8A>C - C1QTNF5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1858G>A r.(?) p.(=) Unknown - VUS g.119215461C>T - - - C1QTNF5_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1830G>A r.(?) p.(=) Unknown - likely benign g.119215433C>T - MFRP(NM_031433.4):c.807G>A (p.Q269=) - C1QTNF5_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-1782T>A r.(?) p.(=) Unknown - pathogenic g.119215385A>T g.119344675A>T MFRP(NM_031433.4):c.855T>A (p.(Cys285Ter)) - C1QTNF5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-1782T>A r.(?) p.(=) Unknown - likely pathogenic g.119215385A>T - MFRP(NM_031433.4):c.855T>A (p.(Cys285Ter)) - C1QTNF5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1756G>A r.(?) p.(=) Unknown - likely benign g.119215359C>T - C1QTNF5(NM_015645.5):c.-1756G>A - C1QTNF5_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1738-10C>A r.(=) p.(=) Unknown - likely benign g.119215111G>T - C1QTNF5(NM_015645.4):c.-1738-10C>A, MFRP(NM_031433.3):c.899-10C>A - C1QTNF5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-1728dup r.(?) p.(=) Unknown - pathogenic g.119215096dup - MFRP(NM_031433.4):c.909dupG (p.N304Efs*54) - C1QTNF5_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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