Full data view for gene EFEMP1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001039348.2 transcript reference sequence.

94 entries on 1 page. Showing entries 1 - 94.
Legend   How to query  

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.-5930384_*28493800dup r.0? p.0? Unknown - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-460C>A r.(=) p.(=) Parent #1 - benign g.56151257G>T g.55924122G>T - - EFEMP1_000023 147 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79563212 Germline - 147/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 147 Mohammed Faruq
-/. - c.-460C>A r.(=) p.(=) Both (homozygous) - benign g.56151257G>T g.55924122G>T - - EFEMP1_000023 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79563212 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. 10 c.? r.? p.? Parent #1 - VUS g.? - 1321-14C>T IVS10-14C>T - SNRNP200_000007 - PubMed: Ramkumar 2017 - - Germline - - - - - DNA SEQ - 17-gene panel retinal disease - PubMed: Ramkumar 2017 - - - United States - - - - - 1 LOVD
?/. - c.? r.? p.? Parent #1 - VUS g.? - IVS10-14C>T - SNRNP200_000007 - PubMed: Alapati 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease DonPat3 PubMed: Alapati 2014 - - - United States - - - - - 1 LOVD
-?/. 3 c.? r.(?) p.? Unknown - likely benign g.56149547G>A - 29C>T - SNRNP200_000007 - PubMed: Narendran 2005 - - Germline - 1.96% in cases and 4.39% in controls - - - DNA SSCA whole blood - retinal disease - PubMed: Narendran 2005 - - - Australia - - - - - 54 LOVD
-?/. 5 c.? r.(?) p.? Unknown - likely benign g.56145030T>C - 287A>G - SNRNP200_000007 - PubMed: Narendran 2005 - - Germline - 3.85% in cases and 4.35% in controls - - - DNA SSCA whole blood - retinal disease - PubMed: Narendran 2005 - - - Australia - - - - - 54 LOVD
-?/. 3 c.? r.(?) p.? Unknown - likely benign g.56149543del - (intron-5) A>G - SNRNP200_000007 - PubMed: Narendran 2005 - - Germline - 19.23% in cases and 15.69% in controls - - - DNA SSCA whole blood - retinal disease - PubMed: Narendran 2005 - - - Australia - - - - - 54 LOVD
-?/. 3 c.? r.(?) p.? Unknown - likely benign g.56149543del - (intron-9) C>T - SNRNP200_000007 - PubMed: Narendran 2005 - - Germline - 11.32% in cases and 9.56% in controls - - - DNA SSCA whole blood - retinal disease - PubMed: Narendran 2005 - - - Australia - - - - - 54 LOVD
-?/. 3 c.? r.(?) p.? Unknown - likely benign g.56149543del - (intron-12) (ttg) 9–12repeat - SNRNP200_000007 - PubMed: Narendran 2005 - - Germline - 7.55% in cases and 5.31% in controls - - - DNA SSCA whole blood - retinal disease - PubMed: Narendran 2005 - - - Australia - - - - - 54 LOVD
-?/. 4 c.? r.(?) p.? Unknown - likely benign g.56145372T>G - 112A>C - SNRNP200_000007 - PubMed: Narendran 2005 - - Germline - 0% in cases and 0.87% in controls - - - DNA SSCA whole blood - retinal disease - PubMed: Narendran 2005 - - - Australia - - - - - 54 LOVD
-?/. 3 c.? r.(?) p.? Unknown - likely benign g.56149543del - (3Â’UTR) Del T - SNRNP200_000007 - PubMed: Narendran 2005 - - Germline - 3.77% in cases and 3.47% in controls - - - DNA SSCA whole blood - retinal disease - PubMed: Narendran 2005 - - - Australia - - - - - 54 LOVD
?/. - c.{2} r.? p.? Unknown - VUS g.(?_27600408)_(62081181_?)dup - 27600408–62081181dup - FAM161A_000000 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 13009597 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.10G>A r.(?) p.(Ala4Thr) Unknown - VUS g.56149566C>T g.55922431C>T EFEMP1(NM_001039348.2):c.10G>A (p.A4T) - EFEMP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.39G>T r.(?) p.(Ala13=) Unknown - likely benign g.56149537C>A g.55922402C>A EFEMP1(NM_001039348.2):c.39G>T (p.A13=) - EFEMP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.81+1G>A r.spl? p.? Unknown - VUS g.56149494C>T - EFEMP1(NM_001039348.2):c.81+1G>A - EFEMP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i c.81+1G>A r.[-7_81del,=] p.[Met1?,=] Unknown - likely pathogenic g.56149494C>T g.55922359C>T - - EFEMP1_000024 effect on RNA exon skipping - - - In vitro (cloned) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
-/. - c.81+20G>C r.(=) p.(=) Unknown - benign g.56149475C>G g.55922340C>G EFEMP1(NM_001039348.3):c.81+20G>C - EFEMP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.131-17T>G r.(=) p.(=) Unknown - likely benign g.56145203A>C - EFEMP1(NM_001039348.3):c.131-17T>G - EFEMP1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.146A>C r.(?) p.(Asp49Ala) Unknown - VUS g.56145171T>G g.55918036T>G EFEMP1(NM_001039348.2):c.146A>C (p.D49A), EFEMP1(NM_001039348.3):c.146A>C (p.D49A) - EFEMP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.146A>C r.(?) p.(Asp49Ala) Unknown - VUS g.56145171T>G g.55918036T>G 146T>G - EFEMP1_000020 - PubMed: Duvvari 2016 - rs55849640 Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat12AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
-/. - c.146A>C r.(?) p.(Asp49Ala) Unknown - benign g.56145171T>G - EFEMP1(NM_001039348.2):c.146A>C (p.D49A), EFEMP1(NM_001039348.3):c.146A>C (p.D49A) - EFEMP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.146A>C r.(?) p.(Asp49Ala) Unknown - benign g.56145171T>G - EFEMP1(NM_001039348.2):c.146A>C (p.D49A), EFEMP1(NM_001039348.3):c.146A>C (p.D49A) - EFEMP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.246A>G r.(?) p.(Glu82=) Unknown - benign g.56145071T>C - EFEMP1(NM_001039348.3):c.246A>G (p.E82=) - EFEMP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297C>T r.(?) p.(=) Unknown - likely benign g.56145020G>A - EFEMP1(NM_001039348.3):c.297C>T (p.T99=) - EFEMP1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.379G>C r.(?) p.(Gly127Arg) Parent #1 - likely pathogenic g.56144938C>G g.55917803C>G - - EFEMP1_000031 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - DNA SEQ-NG - WES retinal disease HM704 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
-?/. 5 c.399C>A r.(=) p.(=) Parent #1 - likely benign g.56144918G>T - 399C>A (G133G) - EFEMP1_000027 - PubMed: Downs 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Downs 2007 - - - - - - - - - 1 Julia Lopez
+/. 5 c.418C>T r.(?) p.(Arg140Trp) Unknown - pathogenic g.56144899G>A - c.418C>T, p.Arg140Trp - EFEMP1_000034 - PubMed: Mackay 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG, microsat blood - retinal disease I:1, I:4, II:5, II:7, II:10 PubMed: Mackay 2015 - - - - African-American - - - - 5 LOVD
-?/. - c.507C>T r.(?) p.(Asn169=) Unknown - likely benign g.56144810G>A g.55917675G>A EFEMP1(NM_001039348.2):c.507C>T (p.N169=), EFEMP1(NM_001039348.3):c.507C>T (p.N169=) - EFEMP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507C>T r.(?) p.(Asn169=) Unknown - likely benign g.56144810G>A - EFEMP1(NM_001039348.2):c.507C>T (p.N169=), EFEMP1(NM_001039348.3):c.507C>T (p.N169=) - EFEMP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507C>T r.(?) p.(Asn169=) Unknown - likely benign g.56144810G>A - EFEMP1(NM_001039348.2):c.507C>T (p.N169=), EFEMP1(NM_001039348.3):c.507C>T (p.N169=) - EFEMP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518-120G>A r.(=) p.(=) Unknown - likely benign g.56108989C>T - EFEMP1(NM_001039348.3):c.518-120G>A - EFEMP1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518-119C>A r.(=) p.(=) Unknown - likely benign g.56108988G>T - EFEMP1(NM_001039348.3):c.518-119C>A - EFEMP1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.518-11G>A r.(=) p.(=) Unknown - benign g.56108880C>T - EFEMP1(NM_001039348.3):c.518-11G>A - EFEMP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.523G>A r.(?) p.(Asp175Asn) Unknown - benign g.56108864C>T g.55881729C>T - - EFEMP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543G>A r.(?) p.(Thr181=) Unknown - likely benign g.56108844C>T g.55881709C>T EFEMP1(NM_001039348.2):c.543G>A (p.T181=), EFEMP1(NM_001039348.3):c.543G>A (p.T181=) - EFEMP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543G>A r.(?) p.(Thr181=) Unknown - likely benign g.56108844C>T - EFEMP1(NM_001039348.2):c.543G>A (p.T181=), EFEMP1(NM_001039348.3):c.543G>A (p.T181=) - EFEMP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.580C>T r.(?) p.(Arg194Trp) Parent #1 - likely pathogenic g.56108807G>A g.55881672G>A - - EFEMP1_000030 not in 624 control chromosomes PubMed: Sun 2015 - rs398123542 Germline - 1/596 chromosomes - - - DNA SEQ-NG - WES retinal disease HM381 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
+?/. - c.622C>T r.(?) p.(Arg208*) Parent #1 - likely pathogenic (dominant) g.56108765G>A g.55881630G>A - - EFEMP1_000026 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 680766 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+?/. 6 c.622C>T r.(?) p.(Arg208*) Unknown - likely pathogenic g.56108765G>A - c.622C>T - EFEMP1_000026 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
?/. 6 c.623G>A r.(?) p.(Arg208Gln) Unknown - VUS g.56108764C>T g.55881629C>T G623A - EFEMP1_000032 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#002 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.698G>A r.(?) p.(Gly233Asp) Unknown - VUS g.56104943C>T g.55877808C>T EFEMP1(NM_001039348.2):c.698G>A (p.G233D) - EFEMP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.714G>A r.(?) p.(Gln238=) Unknown - likely benign g.56104927C>T g.55877792C>T EFEMP1(NM_001039348.3):c.714G>A (p.Q238=) - EFEMP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.761-57A>T r.(=) p.(=) Unknown - likely benign g.56103934T>A - EFEMP1(NM_001039348.3):c.761-57A>T - EFEMP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.761-16_761-15del r.(=) p.(=) Unknown - benign g.56103905_56103906del g.55876770_55876771del EFEMP1(NM_001039348.3):c.761-16_761-15delTA - EFEMP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.761-8T>C r.(=) p.(=) Unknown - likely benign g.56103885A>G g.55876750A>G EFEMP1(NM_001039348.2):c.761-8T>C, EFEMP1(NM_001039348.3):c.761-8T>C - EFEMP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.761-8T>C r.(=) p.(=) Unknown - likely benign g.56103885A>G - EFEMP1(NM_001039348.2):c.761-8T>C, EFEMP1(NM_001039348.3):c.761-8T>C - EFEMP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.761-8T>C r.(=) p.(=) Unknown - likely benign g.56103885A>G - EFEMP1(NM_001039348.2):c.761-8T>C, EFEMP1(NM_001039348.3):c.761-8T>C - EFEMP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1000+9_1000+11del r.(?) p.(?) Unknown - likely benign g.56102072_56102074del - - - EFEMP1_000043 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1000+19dup r.(=) p.(=) Unknown - benign g.56102071dup g.55874936dup EFEMP1(NM_001039348.3):c.1000+19dupT - EFEMP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1001-19T>C r.(=) p.(=) Unknown - likely benign g.56098277A>G - EFEMP1(NM_001039348.3):c.1001-19T>C - EFEMP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1033C>T r.(?) p.(Arg345Trp) Unknown - likely pathogenic g.56098226G>A g.55871091G>A - - EFEMP1_000029 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG0906 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
?/. - c.1033C>T r.(?) p.(Arg345Trp) Parent #1 - VUS g.56098226G>A g.55871091G>A - - EFEMP1_000029 - PubMed: Alapati 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease DonPat1 PubMed: Alapati 2014 - - - United States - - - - - 1 LOVD
?/. - c.1033C>T r.(?) p.(Arg345Trp) Parent #1 - VUS g.56098226G>A g.55871091G>A - - EFEMP1_000029 - PubMed: Alapati 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease DonPat2 PubMed: Alapati 2014 - - - United States - - - - - 1 LOVD
+?/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - likely pathogenic g.56098226G>A - c.1033C>T - EFEMP1_000029 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 10 c.1033C>T r.(?) p.(Arg345Trp) Parent #1 - likely pathogenic g.56098226G>A - c.1033C>T - EFEMP1_000029 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - likely pathogenic g.56098226G>A - c.1033C>T - EFEMP1_000029 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - Arg345Trp - EFEMP1_000029 - PubMed: Matsumoto 2001 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease II:1 PubMed: Matsumoto 2001 - F - - - - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - Arg345Trp - EFEMP1_000029 - PubMed: Matsumoto 2001 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease III:1 PubMed: Matsumoto 2001 - F - - - - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - Arg345Trp - EFEMP1_000029 - PubMed: Matsumoto 2001 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease III:3 PubMed: Matsumoto 2001 - F - - - - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - Arg345Trp - EFEMP1_000029 - PubMed: Narendran 2005 - - Germline - - - - - DNA SSCA, SEQ whole blood - retinal disease - PubMed: Narendran 2005 - - - Australia - - - - - 2 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - c.R345W - EFEMP1_000029 - PubMed: Gerth 2009 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Gerth 2009 - F - - French/Scottish/Dutch - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - c.R345W - EFEMP1_000029 - PubMed: Gerth 2009 - - Germline - - - - - DNA ? - - retinal disease mother of case 1 PubMed: Gerth 2009 - F - - French/ Scottish/Dutch - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - R345W (c.1033C>T) - EFEMP1_000029 - PubMed: Takeuchi 2010 - - Germline yes 0/100 Japanese and 0/500 Caucasian controls - - - DNA PCR, RFLP peripheral blood leukocytes - retinal disease Family 1:III-1 PubMed: Takeuchi 2010 - F - Japan Japanese - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - R345W (c.1033C>T) - EFEMP1_000029 - PubMed: Takeuchi 2010 - - Germline yes 0/100 Japanese and 0/500 Caucasian controls - - - DNA PCR, RFLP peripheral blood leukocytes - retinal disease Family 1:II-2 PubMed: Takeuchi 2010 - F - Japan Japanese - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - R345W (c.1033C>T) - EFEMP1_000029 - PubMed: Takeuchi 2010 - - Germline yes 0/100 Japanese and 0/500 Caucasian controls - - - DNA PCR, RFLP peripheral blood leukocytes - retinal disease Family 1:III-2 PubMed: Takeuchi 2010 - F - Japan Japanese - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - R345W (c.1033C>T) - EFEMP1_000029 - PubMed: Takeuchi 2010 - - Germline yes 0/100 Japanese and 0/500 Caucasian controls - - - DNA PCR, RFLP peripheral blood leukocytes - retinal disease Family 1:I-1 PubMed: Takeuchi 2010 - F - Japan Japanese - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - R345W - EFEMP1_000029 - PubMed: Fu 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease Family A PubMed: Fu 2007 Stone 1999 - - - - - - - - 10 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - R345W - EFEMP1_000029 - PubMed: Fu 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease Family B - III:1/III:2 PubMed: Fu 2007 parents of IV M;F yes India - - - - - 2 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Both (homozygous) - pathogenic g.56098226G>A - R345W - EFEMP1_000029 - PubMed: Fu 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease Family B - IV:1 PubMed: Fu 2007 older brother M yes India - - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Both (homozygous) - pathogenic g.56098226G>A - R345W - EFEMP1_000029 - PubMed: Fu 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease Family B - IV:2 PubMed: Fu 2007 - M yes India - - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - R345W - EFEMP1_000029 - PubMed: Zhang 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease II:11 PubMed: Zhang 2014 - F - China Chinese - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - R345W - EFEMP1_000029 - PubMed: Zhang 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease II:2 PubMed: Zhang 2014 - F - China Chinese - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - R345W - EFEMP1_000029 - PubMed: Zhang 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease II:4 PubMed: Zhang 2014 - M - China Chinese - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - R345W - EFEMP1_000029 - PubMed: Zhang 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease II:9 PubMed: Zhang 2014 - F - China Chinese - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - R345W - EFEMP1_000029 - PubMed: Zhang 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease II:15 PubMed: Zhang 2014 - M - China Chinese - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - R345W - EFEMP1_000029 - PubMed: Zhang 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease III:4 PubMed: Zhang 2014 - M - China Chinese - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - (c.1033C > T) - EFEMP1_000029 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ blood - retinal disease patient PubMed: Zhang 2018 - F - China Chinese - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - (c.1033C > T) - EFEMP1_000029 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ blood - retinal disease brother PubMed: Zhang 2018 - M - China Chinese - - - - 1 LOVD
+/. 10 c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - (c.1033C > T) - EFEMP1_000029 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ blood - retinal disease mother PubMed: Zhang 2018 - F - China Chinese - - - - 1 LOVD
+/. - c.1033C>T r.(?) p.(Arg345Trp) Unknown - pathogenic g.56098226G>A - - - EFEMP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1050T>C r.(?) p.(Cys350=) Unknown - benign g.56098209A>G g.55871074A>G EFEMP1(NM_001039348.3):c.1050T>C (p.C350=) - EFEMP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1118C>T r.(?) p.(Pro373Leu) Unknown - VUS g.56098141G>A g.55871006G>A EFEMP1(NM_001039348.2):c.1118C>T (p.P373L) - EFEMP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1160G>A r.(?) p.(Arg387Gln) Unknown - benign g.56098015C>T g.55870880C>T EFEMP1(NM_001039348.3):c.1160G>A (p.R387Q) - EFEMP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1221A>G r.(?) p.(Pro407=) Unknown - likely benign g.56097954T>C g.55870819T>C EFEMP1(NM_001039348.2):c.1221A>G (p.P407=) - EFEMP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1274C>G r.(?) p.(Thr425Ser) Parent #1 - likely pathogenic (dominant) g.56097901G>C g.55870766G>C - - EFEMP1_000025 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 691028 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
?/. - c.1274C>G r.(?) p.(Thr425Ser) Parent #1 - VUS g.56097901G>C g.55870766G>C - - EFEMP1_000025 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp261 PubMed: Zhao 2015 family - - Northern Ireland - - - - - 1 LOVD
+?/. 11 c.1274C>G r.(?) p.(Thr425Ser) Unknown - likely pathogenic g.56097901G>C - c.1274C>G - EFEMP1_000025 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
+?/. - c.1303G>A r.(?) p.(Gly435Arg) Parent #1 - likely pathogenic g.56097872C>T g.55870737C>T - - EFEMP1_000028 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - DNA SEQ-NG - WES retinal disease HM741 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
?/. 11 c.1303G>A r.(?) p.(Gly435Arg) Unknown - VUS g.56097872C>T - c.1303G>A - EFEMP1_000028 - PubMed: Wang-2014 - - Germline - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - - - - - - - - 1 LOVD
?/. - c.1320+2T>A r.spl? p.? Unknown - VUS g.56097853A>T g.55870718A>T EFEMP1(NM_001039348.2):c.1320+2T>A - EFEMP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1381C>T r.(?) p.(His461Tyr) Unknown ACMG VUS g.56094309G>A g.55867174G>A - - EFEMP1_000037 ACMG PM2, BP4 PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? STGD-447 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.1413C>T r.(?) p.(=) Unknown - likely benign g.56094277G>A - EFEMP1(NM_001039348.3):c.1413C>T (p.S471=) - EFEMP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6del r.(?) p.(=) Unknown - benign g.56094205del g.55867070del EFEMP1(NM_001039348.3):c.*6delT - EFEMP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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