Full data view for gene BEST1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_004183.3 transcript reference sequence.

2242 entries on 23 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     
+?/. 4 430A>G r.(?) p.(Ser144Gly) Maternal (confirmed) - likely pathogenic (recessive) g.61723372A>G g.61955900A>G BEST1 430A>G, p.S144G - BEST1_000331 heterozygous PubMed: Lacassagne 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease III-1 PubMed: Lacassagne 2011 - M - France - - - - - 1 LOVD
+?/. 8 904G>C r.(?) p.(Asp302His) Unknown - likely pathogenic g.61727006G>C g.61959534G>C VMD2 904G>C, D302H - BEST1_000287 heterozygous PubMed: Marchant 2002 - - Unknown ? - - - - DNA DHPLC, SEQ blood - retinal disease C (individual) PubMed: Marchant 2002 - ? - - - - - - - 1 LOVD
+?/. 8 909T>A r.(?) p.(Asp303Glu) Unknown - likely pathogenic g.61727011T>A g.61959539T>A VMD2 909T>A, D303E - BEST1_000290 heterozygous PubMed: Marchant 2002 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease A (family) PubMed: Marchant 2002 - ? - - - - - - - 1 LOVD
+?/. 8 923A>G r.(?) p.(Asn308Ser) Unknown - likely pathogenic g.61727025A>G g.61959553A>G VMD2 923A>G, N308S - BEST1_000296 heterozygous PubMed: Marchant 2002 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease B (family) PubMed: Marchant 2002 - ? - - - - - - - 1 LOVD
+/. - c.-37+1G>T r.spl? p.? Both (homozygous) - pathogenic (recessive) g.61717900G>T - 11:61717900G>T ENST00000449131.2:c.-29+1G>T - BEST1_000116 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007693 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.-37+1G>T r.spl p.(?) Both (homozygous) - pathogenic g.61717900G>T g.61950428G>T BEST1 c.-29+1G>T, - BEST1_000116 homozygous, different transcript, NM_001139443.1:c.-29+1G>T PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007693 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 1i c.-37+1G>T r.spl? p.? Parent #1 - likely pathogenic g.61717900G>T - c.-37+1G>T - BEST1_000116 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 1i c.-37+1G>T r.spl? p.? Parent #1 - likely pathogenic g.61717900G>T - c.-37+1G>T - BEST1_000116 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. - c.-37+1G>T r.(?) p.? Both (homozygous) - likely pathogenic g.61717900G>T g.61950428G>T BEST1 c.-37+1G>T, inactivation of splice donor site of exon 1 - BEST1_000116 homozygous PubMed: Boon 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 10 PubMed: Boon 2013 - F - Netherlands - - - - - 1 LOVD
+?/. - c.-37+5G>A r.spl? p.(?) Parent #2 - likely pathogenic g.61717904G>A g.61950432G>A BEST1 c.388C>A; c.-37+5G>A - BEST1_000216 compound heterozygous PubMed: Zanolli 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 12 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - 1 LOVD
+?/. - c.-37+5G>A r.(?) p.0? Both (homozygous) - likely pathogenic g.61719312G>A g.61951840G>A BEST1 c.-29+5G>A, p.0? - BEST1_000216 different transcript used; NM_001139443.1(BEST1):c.-29+5G>A; no transcript detected; homozygous PubMed: Fung 2015 - - Germline yes - - - - DNA SEQ - - retinal disease 5 PubMed: Fung 2015 family 4, individual 5, proband F yes - - - - - - 1 LOVD
+?/. 1i c.-37+5G>A r.(?) p.(?) Unknown - likely pathogenic g.61717904G>A g.61950432G>A BEST1 c.-37+5G>A, splice site - BEST1_000216 heterozygous PubMed: Birtel 2020 - - Unknown ? - - - - DNA SEQ - retrospective study retinal disease 11 PubMed: Birtel 2020 - M - - - - - - - 1 LOVD
+?/. _1i_2i c.(?_-36-15)_(152+1_153-1)del r.0? p.0? Parent #1 - likely pathogenic g.(?_61719278)_(61719431_61722578)del g.(?_61951806)_(61951959_61955106)del g.61719228_61719480del - BEST1_000243 - PubMed: Ellingford 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease 15022236 PubMed: Ellingford 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 1i_2i c.(-37+1_-36-1)_(152+1_153-1)del r.(?) p.0? Both (homozygous) - likely pathogenic g.(61717900_61719242)_(61719431_61722578)del g.(61950428_61951770)_(61951959_61955106)del del ex2 1-?_152+?del, no protein - BEST1_000448 - PubMed: Boon 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 8 PubMed: Boon 2013 - F - Netherlands - - - - - 1 LOVD
+?/. - c.-29+1G>T r.spl p.(?) Both (homozygous) - likely pathogenic g.61719251C>T g.61951779C>T BEST1 c.-29+1G>T, splicing - BEST1_000468 homozygous PubMed: Casalino 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ blood Whole Exome Sequencing retinal disease 3 PubMed: Casalino 2020 - M - - Asian - - - - 1 LOVD
+?/. - c.-29+1G>T r.spl p.(?) Unknown - likely pathogenic g.61719251C>T g.61951779C>T BEST1 c.-29+1G>T, Splicing - BEST1_000468 heterozygous PubMed: Casalino 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ blood Whole Exome Sequencing retinal disease 4 PubMed: Casalino 2020 - M - - white - - - - 1 LOVD
+?/. 10_11_ c.1265_*341{0} r.? p.(His422fs) Unknown - likely pathogenic g.61729891_61733239del g.61962419_61965767del BEST1 deletion of 9348 bases (61729891e61733239), H422fsX431 - BEST1_000444 9348 bp deletion PubMed: Dalvin 2016 - - De novo - - - - - DNA SEQ-NG blood panel of 131 retinal dystrophy genes retinal disease patient PubMed: Dalvin 2016 2-generation family, 1 affected, unaffected non-carrier parents M - Denmark - - - - - 1 LOVD
-?/. - c.? r.? p.? Parent #1 - likely benign g.? - 23C>T - BEST1_000000 - PubMed: Zhuk 2006 - - Germline - 1/11 cases - - - DNA PCR, SEQ blood - retinal disease - PubMed: Zhuk 2006 Sister and 2 paternal cousins with macular degeneration F - - white - - - - 1 Julia Lopez
?/. - c.? r.? p.? Unknown - VUS g.? - 1060C>T (F354W) - BEST1_000000 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP289 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Unknown - likely pathogenic g.? g.? R41S - BEST1_000000 nucleotide variant not written PubMed: Renner 2005 - - Unknown ? - - - - DNA SEQ blood Retrospective study retinal disease 1911 (G03-2001) PubMed: Renner 2005 - M - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.0? Unknown - likely pathogenic g.? g.? BEST1 exons 1-2 deletion - DRD4_000002 heterozygous PubMed: Casalino 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ blood Whole Exome Sequencing retinal disease 15 PubMed: Casalino 2020 - M - - white - - - - 1 LOVD
+?/. 2 c.1A>G r.(?) p.(Met1?) Paternal (inferred) - likely pathogenic g.61719279A>G g.61951807A>G BEST1 c.1 A > G, p.M1V - BEST1_000450 homozygous PubMed: Shi 2020 - - Germline yes - - - - DNA SEQ-NG blood whole exome sequencing retinal disease ? PubMed: Shi 2020 - F yes China - - - - - 1 LOVD
+?/. - c.4A>G r.(?) p.(Thr2Ala) Unknown - likely pathogenic g.61719282A>G g.61951810A>G BEST1 c.4A>G, p.(Thr2Ala) - BEST1_000341 heterozygous PubMed: Katagiri 2015 - - Unknown ? - - - - DNA SEQ blood - retinal disease B.I-1 PubMed: Katagiri 2015 Family B, individual I-1 - proband M - Japan Asian - - - - 1 LOVD
+?/. - c.4A>G r.(?) p.(Thr2Ala) Paternal (inferred) - likely pathogenic g.61719282A>G g.61951810A>G BEST1 c.4A>G, p.(Thr2Ala) - BEST1_000341 heterozygous PubMed: Katagiri 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease C.II-3 PubMed: Katagiri 2015 Family C, individual II-3 - proband M - Japan Asian - - - - 1 LOVD
+?/. - c.5C>A r.(?) p.(Thr2Asn) Unknown - likely pathogenic g.61719283C>A g.61951811C>A BEST1 Thr2Asn (c.5C->A) - BEST1_000298 heterozygous PubMed: Wong 2009 - - Unknown yes - - - - DNA SEQ blood - retinal disease E:I-1 PubMed: Wong 2009 Family E, individual I-1 (proband) M - China - - - - - 1 LOVD
+?/. - c.5C>A r.(?) p.(Thr2Asn) Paternal (confirmed) - likely pathogenic g.61719283C>A g.61951811C>A BEST1 Thr2Asn (c.5C->A) - BEST1_000298 heterozygous PubMed: Wong 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease E:II-3 PubMed: Wong 2009 Family E, individual II-3 (proband's son) F - China - - - - - 1 LOVD
+?/. - c.5C>G r.(?) p.(Thr2Ser) Unknown - likely pathogenic g.61719283C>G g.61951811C>G BEST1 c.5C.G [p.Thr2Ser] - BEST1_000381 heterozygous PubMed: Guo 2018 - - Unknown yes - - - - DNA SEQ blood - retinal disease F_II:1 PubMed: Guo 2018 Family F, individual II:1 M - China - - - - - 1 LOVD
+/. 2 c.5C>G r.(?) p.(Thr2Ser) Unknown ACMG pathogenic g.61719283C>G g.61951811C>G BEST1 c.5C>G, p.(Thr2Ser) - BEST1_000381 heterozygous PubMed: Gao 2019 - - Unknown ? - - - - DNA SEQ blood - retinal disease F19-1 PubMed: Gao 2019 - F - China - - - - - 1 LOVD
+/. 2 c.5C>G r.(?) p.(Thr2Ser) Paternal (confirmed) ACMG pathogenic g.61719283C>G g.61951811C>G BEST1 c.5C>G, p.(Thr2Ser) - BEST1_000381 heterozygous PubMed: Gao 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease F33-1 PubMed: Gao 2019 - F - China - - - - - 1 LOVD
+/. 2 c.5C>G r.(?) p.(Thr2Ser) Paternal (confirmed) ACMG pathogenic g.61719283C>G g.61951811C>G BEST1 c.5C>G, p.(Thr2Ser) - BEST1_000381 heterozygous PubMed: Gao 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease F33-2 PubMed: Gao 2019 - M - China - - - - - 1 LOVD
+/. 2 c.5C>G r.(?) p.(Thr2Ser) Unknown ACMG pathogenic g.61719283C>G g.61951811C>G BEST1 c.5C>G, p.(Thr2Ser) - BEST1_000381 heterozygous PubMed: Gao 2019 - - Unknown ? - - - - DNA SEQ blood - retinal disease F33-3 PubMed: Gao 2019 - M - China - - - - - 1 LOVD
+/. 2 c.5C>G r.(?) p.(Thr2Ser) Unknown ACMG pathogenic g.61719283C>G g.61951811C>G BEST1 c.5C>G, p.(Thr2Ser) - BEST1_000381 heterozygous PubMed: Gao 2019 - - Unknown ? - - - - DNA SEQ blood - retinal disease F37-1 PubMed: Gao 2019 - F - China - - - - - 1 LOVD
+/. 2 c.5C>G r.(?) p.(Thr2Ser) Unknown ACMG pathogenic g.61719283C>G g.61951811C>G BEST1 c.5C>G, p.(Thr2Ser) - BEST1_000381 heterozygous PubMed: Gao 2019 - - Unknown ? - - - - DNA SEQ blood - retinal disease F37-2 PubMed: Gao 2019 - M - China - - - - - 1 LOVD
+/. 2 c.5C>G r.(?) p.(Thr2Ser) Unknown ACMG pathogenic g.61719283C>G g.61951811C>G BEST1 c.5C>G, p.(Thr2Ser) - BEST1_000381 heterozygous PubMed: Gao 2019 - - Unknown ? - - - - DNA SEQ blood - retinal disease F5-1 PubMed: Gao 2019 - M - China - - - - - 1 LOVD
+/. 2 c.5C>T r.(?) p.(Thr2Ile) Unknown ACMG likely pathogenic g.61719283C>T g.61951811C>T BEST1 c.5C>T, p.(Thr2Ile) - BEST1_000382 heterozygous PubMed: Frecer 2019 - - Unknown ? - - - - DNA SEQ blood - retinal disease P1 PubMed: Frecer 2019 - M - Italy - - - - - 1 LOVD
+?/. - c.8T>A r.(?) p.(Ile3Asn) Maternal (inferred) - likely pathogenic g.61719286T>A g.61951814T>A BEST1 c.8T>A (p.I3N) - BEST1_000354 heterozygous PubMed: Matson 2015 - - Germline yes - - - - DNA SEQ - - retinal disease Case 1 PubMed: Matson 2015 Family 1, individual II:1 M - United States black - - - - 1 LOVD
+?/. - c.8T>C r.(?) p.(Ile3Thr) Unknown - likely pathogenic g.61719286T>C g.61951814T>C BEST1 c.8T>C, p.(Ile3Thr) - BEST1_000299 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease L-III.1 PubMed: Boon 2009 Family L, individual III.1 F - Netherlands - - - - - 1 LOVD
+?/. 2 c.10A>G r.(?) p.(Thr4Ala) Paternal (inferred) - likely pathogenic g.61719288A>G g.61951816A>G BEST1 A>G10, T4A - BEST1_000300 heterozygous PubMed: Querques 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease CT07 (FamilyCT IV) PubMed: Querques 2009 - F - France - - - - - 1 LOVD
+?/. 2 c.10A>G r.(?) p.(Thr4Ala) Paternal (inferred) - likely pathogenic g.61719288A>G g.61951816A>G BEST1 A>G10, T4A - BEST1_000300 heterozygous PubMed: Querques 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease CT08 (FamilyCT IV) PubMed: Querques 2009 - F - France - - - - - 1 LOVD
+?/. 2 c.10A>G r.(?) p.(Thr4Ala) Unknown - likely pathogenic g.61719288A>G g.61951816A>G BEST1 p.Thr4Ala - BEST1_000300 no nucleotide annotation, writen, extrapolated from protein change; heterozygous PubMed: Querques 2014 - - Germline yes - - - - DNA SEQ-NG - - retinal disease 8_Case20 PubMed: Querques 2014 family 8, individual: Case20 F - France - - - - - 1 LOVD
+?/. 2 c.10A>G r.(?) p.(Thr4Ala) Unknown - likely pathogenic g.61719288A>G g.61951816A>G BEST1 p.Thr4Ala - BEST1_000300 no nucleotide annotation, writen, extrapolated from protein change; heterozygous PubMed: Querques 2014 - - Germline yes - - - - DNA SEQ-NG - - retinal disease 8_Case21 PubMed: Querques 2014 family 8, individual: Case21 F - France - - - - - 1 LOVD
+?/. - c.11C>T r.(?) p.(Thr4Ile) Unknown - likely pathogenic g.61719289C>T g.61951817C>T Allele 1 c.11C>T (p.Thr4IIe), Allele 2 Wildtype - BEST1_000207 heterozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - F - - - - - - - 1 LOVD
+?/. - c.11C>T r.(?) p.(Thr4Ile) Unknown ACMG likely pathogenic g.61719289C>T g.61951817C>T BEST1:NM_004183 c.C11T, p.T4I - BEST1_000207 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-466 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.11C>T r.(?) p.(Thr4Ile) Parent #1 - likely pathogenic g.61719289C>T g.61951817C>T BEST1, variant 1: c.11C>T/p.T4I - BEST1_000207 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 288 PubMed: Weisschuh 2020 Filing key number: 95, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.11C>T r.(?) p.(Thr4Ile) Unknown - likely pathogenic g.61719289C>T g.61951817C>T BEST1 c.11C>T, p.T4I - BEST1_000207 heterozygous PubMed: Tian 2014 - - Unknown yes - - - - DNA SEQ - - retinal disease C_I:1 PubMed: Tian 2014 family C, individual I:1 M - China - - - - - 1 LOVD
+?/. - c.11C>T r.(?) p.(Thr4Ile) Paternal (confirmed) - likely pathogenic g.61719289C>T g.61951817C>T BEST1 c.11C>T, p.T4I - BEST1_000207 heterozygous PubMed: Tian 2014 - - Germline yes - - - - DNA SEQ - - retinal disease C_II:1 PubMed: Tian 2014 family C, individual II:1 F - China - - - - - 1 LOVD
+/. 2 c.11C>T r.(?) p.(Thr4Ile) Unknown ACMG likely pathogenic g.61719289C>T g.61951817C>T BEST1 c.11C>T, p.(Thr4Ile) - BEST1_000207 heterozygous PubMed: Frecer 2019 - - Unknown ? - - - - DNA SEQ blood - retinal disease P2 PubMed: Frecer 2019 - F - Italy - - - - - 1 LOVD
+/. 2 c.11C>T r.(?) p.(Thr4Ile) Unknown ACMG likely pathogenic g.61719289C>T g.61951817C>T BEST1 c.11C>T, p.(Thr4Ile) - BEST1_000207 heterozygous PubMed: Frecer 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease P3 PubMed: Frecer 2019 - F - Italy - - - - - 1 LOVD
+?/. 2 c.15C>A r.(?) p.(Tyr5*) Unknown - likely pathogenic (recessive) g.61719293C>A g.61951821C>A BEST1 c.15C>A, p.Y5X - BEST1_000328 heterozygous PubMed: Lacassagne 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease II-1 PubMed: Lacassagne 2011 - M - France - - - - - 1 LOVD
+?/. 2 c.15C>A r.(?) p.(Tyr5*) Paternal (confirmed) - likely pathogenic (recessive) g.61719293C>A g.61951821C>A BEST1 c.15C>A c., p.Y5X - BEST1_000328 heterozygous PubMed: Lacassagne 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease III-1 PubMed: Lacassagne 2011 - M - France - - - - - 1 LOVD
+/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - pathogenic g.61719294A>C g.61951822A>C BEST1(NM_004183.3):c.16A>C (p.T6P) - BEST1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - pathogenic g.61719294A>C - BEST1(NM_004183.3):c.16A>C (p.T6P) - BEST1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C - c.16A>C - BEST1_000004 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx6-1 PubMed: Petrukhin 1998 family SL76, individual SL76-2 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx6-2 PubMed: Petrukhin 1998 family SL76, individual SL76-3 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx6-3 PubMed: Petrukhin 1998 family SL76, individual SL76-4 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-1 PubMed: Petrukhin 1998 family SL76, individual SL76-5 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-2 PubMed: Petrukhin 1998 family SL76, individual SL76-6 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-3 PubMed: Petrukhin 1998 family SL76, individual SL76-7 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-4 PubMed: Petrukhin 1998 family SG1, individual SG1-1 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-5 PubMed: Petrukhin 1998 family SG1, individual SG1-2 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-6 PubMed: Petrukhin 1998 family SG1, individual SG1-3 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-7 PubMed: Petrukhin 1998 family SG1, individual SG1-4 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-8 PubMed: Petrukhin 1998 family SG1, individual SG1-4 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A16C, T6P - BEST1_000004 heterozygous PubMed: Kramer 2000 - - Unknown ? - - - - DNA SSCA, SEQ blood - retinal disease A-21 PubMed: Kramer 2000 - ? - - - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C VMD2 c.16A>C, p.Thr6Pro - BEST1_000004 heterozygous PubMed: Boon 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease 3 PubMed: Boon 2007 - M - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C VMD2 c.16A>C, p.Thr6Pro - BEST1_000004 heterozygous PubMed: Boon 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease 9 PubMed: Boon 2007 - M - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease A-II.2 PubMed: Boon 2009 Family A, individual II.2 F - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease A-III.1 PubMed: Boon 2009 Family A, individual III.1 F - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease B-III.1 PubMed: Boon 2009 Family B, individual III.1 F - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease C-II.1 PubMed: Boon 2009 Family C, individual II.1 M - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease C-III.1 PubMed: Boon 2009 Family C, individual III.1 M - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease D-III.4 PubMed: Boon 2009 Family D, individual III.4 M - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease D-IV.3 PubMed: Boon 2009 Family D, individual IV.3 M - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease E-III.1 PubMed: Boon 2009 Family E, individual III.1 M - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease F-III.5 PubMed: Boon 2009 Family F, individual III.5 M - Netherlands - - - - - 1 LOVD
+?/. 2 c.16A>G r.(?) p.(Thr6Ala) Unknown - likely pathogenic g.61719294A>G g.61951822A>G VMD2 gene missense mutation in exon 2 (Thr6Ala [ACA>GCA]) - BEST1_000301 no nucleotide annotation, writen, extrapolated from protein change; heterozygous PubMed: Apushkin 2006 - - De novo yes - - - - DNA SEQ blood - retinal disease ? PubMed: Apushkin 2006 - M - United States English, German, and Polish ancestry - - - - 1 LOVD
+/. - c.17C>G r.(?) p.(Thr6Arg) Unknown - pathogenic g.61719295C>G g.61951823C>G BEST1(NM_004183.3):c.17C>G (p.T6R) - BEST1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.17C>G r.(?) p.(Thr6Arg) Unknown - likely pathogenic g.61719295C>G g.61951823C>G BEST1 ACA-AGA, Thr6Arg - BEST1_000084 heterozygous PubMed: Lotery 2000 - - Unknown ? - - - - DNA SSCA, SEQ - - retinal disease ? PubMed: Lotery 2000 - ? - - - - - - - 1 LOVD
+?/. - c.17C>G r.(?) p.(Thr6Arg) Unknown - likely pathogenic g.61719295C>G g.61951823C>G BEST1 c.17C>G, p.T6R - BEST1_000084 heterozygous PubMed: Tian 2014 - - Unknown yes - - - - DNA SEQ - - retinal disease 010379 PubMed: Tian 2014 - M - China - - - - - 1 LOVD
+/. 2 c.17C>T r.(?) p.(Thr6Ile) Parent #1 - pathogenic (dominant) g.61719295C>T g.61951823C>T - - BEST1_000121 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat154 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
+?/. - c.17C>T r.(?) p.(Thr6Ile) Parent #1 - likely pathogenic g.61719295C>T g.61951823C>T BEST1, variant 1: c.17C>T/p.T6I - BEST1_000121 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 547 PubMed: Weisschuh 2020 Filing key number: 194, macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 2 c.17C>T r.(?) p.(Thr6Ile) Unknown - likely pathogenic g.61719295C>T g.61951823C>T BEST1 c.17C>T, p.Thr6Ile - BEST1_000121 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 103 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. - c.20G>A r.(?) p.(Ser7Asn) Unknown - likely pathogenic g.61719298G>A g.61951826G>A BEST1 c.20G>A, p.(Ser7Asn) - BEST1_000342 heterozygous PubMed: Katagiri 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease A.I-1 PubMed: Katagiri 2015 Family A, individual I-1 - father of proband M - Japan Asian - - - - 1 LOVD
+?/. - c.20G>A r.(?) p.(Ser7Asn) Paternal (confirmed) - likely pathogenic g.61719298G>A g.61951826G>A BEST1 c.20G>A, p.(Ser7Asn) - BEST1_000342 heterozygous PubMed: Katagiri 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease A.II-1 PubMed: Katagiri 2015 Family A, individual II-1 - proband M - Japan Asian - - - - 1 LOVD
+?/. - c.20G>A r.(?) p.(Ser7Asn) Unknown - likely pathogenic g.61719298G>A g.61951826G>A BEST1 c.20G>A, p.S7N - BEST1_000342 heterozygous PubMed: Tian 2014 - - Unknown yes - - - - DNA SEQ - - retinal disease 010356 PubMed: Tian 2014 - M - China - - - - - 1 LOVD
+/. - c.20G>A r.(?) p.(Ser7Asn) Maternal (confirmed) - pathogenic g.61719298G>A g.61951826G>A - - BEST1_000342 variant in unaffected mother PubMed: Fan 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Pat4 PubMed: Fan 2020 2-generation family, 1 affected - - China - - - - - 1 Johan den Dunnen
+/. 2i c.20G>A r.(?) p.(Ser7Asn) Parent #1 - pathogenic (!) g.61719298G>A g.61951826G>A - - BEST1_000342 incomplete penetrance PubMed: Liu 2023 rs199508634 rs199508634 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam129Pat343 PubMed: Liu 2023 family, 1 affected F - China - - - - - 2 Johan den Dunnen
+/. 2i c.20G>A r.(?) p.(Ser7Asn) Parent #1 - pathogenic (!) g.61719298G>A g.61951826G>A - - BEST1_000342 incomplete penetrance PubMed: Liu 2023 rs199508634 rs199508634 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel Healthy/Control Fam129Pat345 PubMed: Liu 2023 relative F - China - - - - - 1 Johan den Dunnen
+?/. - c.25G>A r.(?) p.(Val9Met) Unknown - likely pathogenic g.61719303G>A g.61951831G>A - - BEST1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.25G>A r.(?) p.(Val9Met) Parent #1 - pathogenic (dominant) g.61719303G>A g.61951831G>A - - BEST1_000005 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat153 PubMed: Birtel 2018 family M - Germany - - - - - 1 LOVD
+?/. - c.25G>A r.(?) p.(Val9Met) Unknown ACMG likely pathogenic g.61719303G>A g.61951831G>A BEST1 c.[25G>A];[25=], V1: c.25G>A, (p.Val9Met) - BEST1_000005 heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F140 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. 2 c.25G>A r.(?) p.(Val9Met) Unknown - likely pathogenic g.61719303G>A g.61951831G>A BEST1 GTG->ATG, V9M - BEST1_000005 heterozygous PubMed: Marquardt 1998 - - Germline yes - - - - DNA STR, SEQ - - retinal disease O PubMed: Marquardt 1998 Family O ? - Germany - - - - - 1 LOVD
+?/. 2 c.25G>A r.(?) p.(Val9Met) Unknown - likely pathogenic g.61719303G>A g.61951831G>A BEST1 G25A, V9M - BEST1_000005 heterozygous PubMed: Kramer 2000 - - Unknown ? - - - - DNA SSCA, SEQ blood - retinal disease B-20 PubMed: Kramer 2000 - ? - - - - - - - 1 LOVD
+?/. - c.25G>A r.(?) p.(Val9Met) Unknown - likely pathogenic g.61719303G>A g.61951831G>A VMD2 V9M - BEST1_000005 nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous PubMed: Renner 2005 - - Unknown ? - - - - DNA SEQ blood Retrospective study retinal disease 823 (PAT14) PubMed: Renner 2005 - M - - - - - - - 1 LOVD
+?/. 2 c.25G>A r.(?) p.(Val9Met) Unknown - likely pathogenic g.61719303G>A g.61951831G>A BEST1 c.25G>A, p.(Val9Met) - BEST1_000005 heterozygous PubMed: Cohn 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease FAM-26.1 PubMed: Cohn 2010 family FAM-26, 1 individual ? - Australia - - - - - 1 LOVD
+?/. - c.25G>A r.(?) p.(Val9Met) Parent #1 - likely pathogenic g.61719303G>A g.61951831G>A BEST1 c.[25G>A];[25=]; p.(Val9Met) - BEST1_000005 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F140 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.25G>Y r.(?) p.? Unknown - likely pathogenic g.61719303G>Y - p.V9L - BEST1_000183 - PubMed: Meunier 2011 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Meunier 2011 - F no - - - - - - 1 LOVD
?/. 2 c.26T>C r.(?) p.(Val9Ala) Unknown - VUS g.61719304T>C g.61951832T>C BEST1 T130C, V9A - BEST1_000244 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease SL3-1 PubMed: Petrukhin 1998 family SL3, individual SL3-1 ? - - Dutch - - - - 1 LOVD
?/. 2 c.26T>C r.(?) p.(Val9Ala) Unknown - VUS g.61719304T>C g.61951832T>C BEST1 T130C, V9A - BEST1_000244 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease SL3-2 PubMed: Petrukhin 1998 family SL3, individual SL3-2 ? - - Dutch - - - - 1 LOVD
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