Full data view for gene MFRP

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_031433.2 transcript reference sequence.

324 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.428‐2A>G r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.119216345T>C g.119345635T>C - - MFRP_000004 ACMG PVS1, PS4, PM2, PP1, PP4 PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F23‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.428‐2A>G r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.119216345T>C g.119345635T>C - - MFRP_000004 ACMG PVS1, PS4, PM2, PP4 PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F24‐PM PubMed: Patel 2017 patient - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.428‐2A>G r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.119216345T>C g.119345635T>C - - MFRP_000004 ACMG PVS1, PS4, PM2, PP4 PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F25‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
-/. - c.-88C>T r.(?) p.(=) Unknown - benign g.119217311G>A g.119346601G>A - - C1QTNF5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-31G>A r.(?) p.(=) Unknown - benign g.119217254C>T g.119346544C>T - - C1QTNF5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1_1i c.-160_54+41{0} r.0? p.0? Both (homozygous) - likely pathogenic (recessive) g.119217129_119223310del g.119346419_119352600del - - C1QTNF5_000064 - PubMed: De Bruijn 2022 - - Germline - - - - - DNA SEQ-NG blood Published as WGS RP 071154 PubMed: de Bruijn 2023 - - - - - - - - - 1 Suzanne de Bruijn
+?/. - c.? r.0? p.0? 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.1-31G>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
-?/. 1i c.55-14_55-13insGTAT 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.72T>C r.(?) p.(Pro24=) 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.140T>C r.(?) p.(Val47Ala) 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.157+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.169C>T r.(?) p.(Arg57*) Unknown - pathogenic g.119216858G>A - - - C1QTNF5_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.191G>A r.(?) p.(Arg64His) 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.191G>A r.(?) p.(Arg64His) Unknown - VUS g.119216836C>T g.119346126C>T - - C1QTNF5_000039 - PubMed: Wang 2014 - rs149376662 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 17 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
-?/. - c.192C>G r.(?) p.(Arg64=) 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.192C>G r.(?) p.(Arg64=) 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
-?/. 3 c.192C>G r.(?) p.(Arg64=) 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.195C>T r.(?) p.(Phe65=) 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.195C>T r.(?) p.(Phe65=) 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.201G>A r.(?) p.(Trp67Ter) 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.201G>A r.(?) p.(Trp67Ter) Unknown - pathogenic g.119216826C>T - MFRP(NM_031433.3):c.201G>A (p.W67*) - C1QTNF5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.201G>A r.(?) p.(Trp67*) 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.201G>A r.(?) p.(Trp67*) 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.286C>A r.(?) p.(Pro96Thr) 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.287_291delCCCCA r.(?) p.(Pro96LeufsTer6) 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.298del r.(?) p.(Ala100Argfs*37) Unknown - pathogenic g.119216615del - - - C1QTNF5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.335C>T r.(?) p.(Thr112Met) 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.355A>G r.(?) p.(Ile119Val) Unknown - VUS g.119216555T>C g.119345845T>C - - MFRP_000011 - PubMed: Wang 2014 - rs4639950 Germline - - - - - DNA SEQ - - - - - - - - - - - - - - - -
+?/. - c.367C>T r.(?) p.(Gln123*) 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.404G>T r.(?) p.(Gly135Val) Unknown - VUS g.119216506C>A - MFRP(NM_031433.3):c.404G>T (p.G135V) - C1QTNF5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.406G>A r.(?) p.(Val136Met) 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.406G>A r.(?) p.(Val136Met) 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4 c.406G>A r.(?) p.(Val136Met) 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
-?/. 4 c.406G>A r.(?) p.(Val136Met) 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.485A>G r.(?) p.(Asp162Gly) 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.491_492insT r.(?) p.(Asn167Glnfs*34) 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.491_492insT r.(?) p.(Asn167Glnfs*34) 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
-?/. 5 c.492C>T r.(?) p.(Tyr164=) 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
-?/. 5 c.492C>T r.(?) p.(Tyr164=) 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.492delC r.(?) p.(Asn167Thrfs*25) 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.492delC r.(?) p.(Asn167Thrfs*25) 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.492delC r.(?) p.(Asn167Thrfs*25) 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.492delC r.(?) p.(Asn167Thrfs*25) Parent #1 - likely pathogenic g.119212377_119212380del g.119341667_119341670del MFRP c.492 delC (het); p.Asn167Thr fs25X - C1QTNF5_000020 heterozygous PubMed: Mukhopadhyay 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 4_III-1 PubMed: Mukhopadhyay 2010 - F - - - - - - - 1 LOVD
+?/. 5 c.492delC r.(?) p.(Asn167Thrfs*25) 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.496C>G r.(?) p.(Pro166Ala) 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.496C>G r.(?) p.(Pro166Ala) 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.496C>G r.(?) p.(Pro166Ala) 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.498del r.(?) p.(Asn167ThrfsTer25) 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.498del r.(?) p.(Asn167ThrfsTer25) 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.498del Tyr164del1taC p.(Asn167Thrfs*25) Parent #2 - likely pathogenic g.119216279del g.119345569del 492delC - C1QTNF5_000020 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 46 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.498del r.(?) p.(Asn167Thrfs*25) Both (homozygous) - pathogenic g.119216273delG - c.498delC - C1QTNF5_000020 - PubMed: kannabiran-2012 - - Germline yes 0/100 unrelated normal controls - - - DNA PCR, SEQ, arraySNP blood - retinal disease - PubMed: kannabiran-2012 - M - India Indian - - - - 1 LOVD
+/. - c.498del r.(?) p.(Asn167Thrfs*25) Both (homozygous) - pathogenic g.119216273delG - c.498delC - C1QTNF5_000020 - PubMed: kannabiran-2012 - - Germline yes 0/100 unrelated normal controls - - - DNA PCR, SEQ, arraySNP blood - retinal disease - PubMed: kannabiran-2012 - M - India Indian - - - - 1 LOVD
+/. - c.498del r.(?) p.(Asn167Thrfs*25) Both (homozygous) - pathogenic g.119216273delG - c.498delC - C1QTNF5_000020 - PubMed: kannabiran-2012 - - Germline yes 0/100 unrelated normal controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: kannabiran-2012 - M - India Indian - - - - 1 LOVD
+/. - c.498del r.(?) p.(Asn167Thrfs*25) Both (homozygous) - pathogenic g.119216273del - c.498delC - C1QTNF5_000020 - PubMed: Beryozkin-2014 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Beryozkin-2014 - - yes - Arab-Muslim - - - - 2 LOVD
+/. - c.498del r.(?) p.(Asn167Thrfs*25) Unknown - pathogenic g.119216279del g.119345569del c.498del, p.(Asn167Lysfs*25) - C1QTNF5_000020 error in anotation, c.498del causes p.(Asn167Thrfs*25), compound heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes NNO2 13046 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. 5 c.498del r.(?) p.(Asn167Thrfs*25) 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
+?/. 5 c.498del r.(?) p.(Asn167Thrfs*25) 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
+?/. 5 c.498del r.(?) p.(Asn167Thrfs*25) 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
+?/. 5 c.498del r.(?) p.(Asn167Thrfs*25) 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
+?/. 5 c.498del r.(?) p.(Asn167Thrfs*25) 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.498del r.(?) p.(Asn167Thrfs*25) 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.498del r.(?) p.(Asn167Thrfs*25) 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
+?/. 5 c.498del r.(?) p.(Asn167Thrfs*25) 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
+?/. 5 c.498del r.(?) p.(Asn167Thrfs*25) 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
+/. 5 c.498del r.(?) p.(Asn167Thrfs*25) 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
+/. 5 c.498del r.(?) p.(Asn167Thrfs*25) 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
+/. 5 c.498del r.(?) p.(Asn167Thrfs*25) 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.498del r.(?) p.(Asn167ThrfsTer25) 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.498delC r.(?) p.(Asn167Thrfs*25) 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.498dup Tyr164ins1taC p.(Asn167Glnfs*34) Parent #1 - likely pathogenic g.119216279dup g.119345569dup 491_492insC - MFRP_000006 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 46 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 5 c.498dup r.(?) p.(Asn167Glnfs*34) 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
+?/. 5 c.498dup r.(?) p.(Asn167Glnfs*34) 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.498dup r.(?) p.(Asn167GlnfsTer34) Unknown ACMG pathogenic g.119216279dup g.119345569dup - - MFRP_000006 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 073569 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. 5 c.498_499insC r.(?) p.(Asn167Glnfs*34) 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
+?/. 5 c.498_499insC r.(?) p.(Asn167Glnfs*34) 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
+?/. 5 c.498_499insC r.(?) p.(Asn167Glnfs*34) 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
+?/. 5 c.498_499insC r.(?) p.(Asn167Glnfs*34) 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.500del r.(?) p.(Asn167Thrfs*25) Unknown - pathogenic g.119216272del g.119345562del c.500del, p.(Asn167Lysfs*25) - MFRP_000013 error in anotation, c.500del causes p.(Asn167Thrfs*25), compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes NNO2 13046 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. - c.523C>T r.(?) p.(Gln175*) 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.523C>T r.(?) p.(Gln175*) Both (homozygous) ACMG pathogenic g.119216248G>A - - - C1QTNF5_000071 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-14834 rs121908189 Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 3464580 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
-?/. 5 c.540C>T r.(?) p.(His180=) 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.540T>C r.(?) p.(His180=) 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.540T>C r.(?) p.(His180=) 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.540T>C r.(?) p.(His180=) 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.543A>C r.(?) p.(Ala181=) 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.545T>C r.(?) p.(Ile182Thr) 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.545T>C r.(?) p.(Ile182Thr) 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.574G>C r.(?) p.(Glu192Gln) Both (homozygous) - pathogenic (recessive) g.119216197C>G g.119345487C>G - - MFRP_000003 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F22‐PM PubMed: Patel 2017 patient - yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.577_578delAG r.(?) p.(Ser193Cysfs*7) 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.601C>T r.(?) p.(Arg201Cys) 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.629G>T r.(?) p.(Gly210Val) 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.629G>T r.(?) p.(Gly210Val) 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.629G>T r.(?) p.(Gly210Val) Unknown - VUS g.119216142C>A g.119345432C>A - - C1QTNF5_000017 - PubMed: Wang 2014 - rs150902999 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 54 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
-?/. - c.641+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.641+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.641+9G>A r.spl? p.? Unknown - benign g.119216121C>T - c.641+9G>A - MFRP_000012 - PubMed: Bowne 2011 - - Germline - - - - - DNA SEQ, SEQ-NG-S Lymphoblast - retinal disease - PubMed: Bowne 2011 - - no - white - - - - 1 LOVD
+?/. - c.642-2A>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.661C>T r.(?) p.(Pro221Ser) 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
-?/. 6 c.664C>A r.(?) p.(Pro222Thr) 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
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