Full data view for gene EPG5

Information The variants shown are described using the NM_020964.2 transcript reference sequence.

252 entries on 3 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.12G>T r.(?) p.(Ala4=) Unknown - likely benign g.43547194C>A - EPG5(NM_020964.3):c.12G>T (p.A4=) - EPG5_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33C>G r.(?) p.(Ala11=) Unknown - likely benign g.43547173G>C g.45967207G>C EPG5(NM_020964.2):c.33C>G (p.(=)), EPG5(NM_020964.3):c.33C>G (p.A11=) - EPG5_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33C>G r.(?) p.(Ala11=) Unknown - likely benign g.43547173G>C - EPG5(NM_020964.2):c.33C>G (p.(=)), EPG5(NM_020964.3):c.33C>G (p.A11=) - EPG5_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.63+15del r.(=) p.(=) Unknown - benign g.43547132del - EPG5(NM_020964.3):c.63+15delC - EPG5_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.104G>A r.(?) p.(Ser35Asn) Unknown - benign g.43535264C>T g.45955298C>T EPG5(NM_020964.2):c.104G>A (p.(Ser35Asn)), EPG5(NM_020964.3):c.104G>A (p.S35N) - EPG5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104G>A r.(?) p.(Ser35Asn) Unknown - VUS g.43535264C>T g.45955298C>T EPG5(NM_020964.2):c.104G>A (p.(Ser35Asn)), EPG5(NM_020964.3):c.104G>A (p.S35N) - EPG5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.199C>G r.(?) p.(Gln67Glu) Unknown - VUS g.43535169G>C g.45955203G>C EPG5(NM_020964.2):c.199C>G (p.(Gln67Glu)) - EPG5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214G>A r.(?) p.(Ala72Thr) Unknown - likely benign g.43535154C>T g.45955188C>T EPG5(NM_020964.3):c.214G>A (p.A72T) - EPG5_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214G>A r.(?) p.(Ala72Thr) Unknown - likely benign g.43535154C>T - EPG5(NM_020964.3):c.214G>A (p.A72T) - EPG5_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246T>C r.(?) p.(Asp82=) Unknown - likely benign g.43535122A>G - EPG5(NM_020964.3):c.246T>C (p.D82=) - EPG5_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.255C>T r.(?) p.(Leu85=) Unknown - likely benign g.43535113G>A g.45955147G>A EPG5(NM_020964.3):c.255C>T (p.L85=) - EPG5_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.299C>T r.(?) p.(Thr100Ile) Unknown - likely benign g.43535069G>A g.45955103G>A EPG5(NM_020964.2):c.299C>T (p.(Thr100Ile)), EPG5(NM_020964.3):c.299C>T (p.T100I) - EPG5_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.299C>T r.(?) p.(Thr100Ile) Unknown - likely benign g.43535069G>A g.45955103G>A EPG5(NM_020964.2):c.299C>T (p.(Thr100Ile)), EPG5(NM_020964.3):c.299C>T (p.T100I) - EPG5_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.299C>T r.(?) p.(Thr100Ile) Unknown - likely benign g.43535069G>A - EPG5(NM_020964.2):c.299C>T (p.(Thr100Ile)), EPG5(NM_020964.3):c.299C>T (p.T100I) - EPG5_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.407A>G r.(?) p.(Lys136Arg) Unknown - likely benign g.43534961T>C g.45954995T>C EPG5(NM_020964.3):c.407A>G (p.K136R) - EPG5_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.438G>A r.(?) p.(Ser146=) Unknown - likely benign g.43534930C>T g.45954964C>T EPG5(NM_020964.3):c.438G>A (p.S146=) - EPG5_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.438G>A r.(?) p.(Ser146=) Unknown - likely benign g.43534930C>T - EPG5(NM_020964.3):c.438G>A (p.S146=) - EPG5_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.544A>G r.(?) p.(Lys182Glu) Unknown - benign g.43534824T>C g.45954858T>C - - EPG5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.586G>A r.(?) p.(Gly196Ser) Unknown - likely benign g.43534782C>T - EPG5(NM_020964.3):c.586G>A (p.G196S) - EPG5_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624G>A r.(?) p.(Gln208=) Unknown - likely benign g.43534744C>T - EPG5(NM_020964.3):c.624G>A (p.Q208=) - EPG5_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708G>A r.(?) p.(Leu236=) Unknown - likely benign g.43534660C>T g.45954694C>T EPG5(NM_020964.3):c.708G>A (p.L236=) - EPG5_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.740C>T r.(?) p.(Pro247Leu) Unknown - likely benign g.43534628G>A g.45954662G>A EPG5(NM_020964.3):c.740C>T (p.P247L) - EPG5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.740C>T r.(?) p.(Pro247Leu) Parent #1 - benign g.43534628G>A g.45954662G>A - - EPG5_000038 30 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140494095 Germline - 30/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 30 Mohammed Faruq
-/. - c.740C>T r.(?) p.(Pro247Leu) Both (homozygous) - benign g.43534628G>A g.45954662G>A - - EPG5_000038 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140494095 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.740C>T r.(?) p.(Pro247Leu) Unknown - VUS g.43534628G>A - - - EPG5_000038 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.740C>T r.(?) p.(Pro247Leu) Unknown - VUS g.43534628G>A - - - EPG5_000038 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.740C>T r.(?) p.(Pro247Leu) Unknown - VUS g.43534628G>A - - - EPG5_000038 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.761C>T r.(?) p.(Pro254Leu) Unknown - VUS g.43534607G>A - EPG5(NM_020964.3):c.761C>T (p.P254L) - EPG5_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.800C>T r.(?) p.(Ser267Leu) Unknown - likely benign g.43534568G>A g.45954602G>A EPG5(NM_020964.3):c.800C>T (p.S267L) - EPG5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.800C>T r.(?) p.(Ser267Leu) Unknown - likely benign g.43534568G>A g.45954602G>A EPG5(NM_020964.3):c.800C>T (p.S267L) - EPG5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.851A>G r.(?) p.(His284Arg) Unknown - VUS g.43534517T>C - EPG5(NM_020964.3):c.851A>G (p.H284R) - EPG5_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.968G>T r.(?) p.(Ser323Ile) Unknown - VUS g.43534400C>A g.45954434C>A EPG5(NM_020964.3):c.968G>T (p.S323I) - EPG5_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.971G>A r.(?) p.(Arg324Gln) Unknown - VUS g.43534397C>T - EPG5(NM_020964.3):c.971G>A (p.R324Q) - EPG5_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.984dup r.(?) p.(Lys329*) Both (homozygous) ACMG likely pathogenic g.43534386dup g.45954420dup - - EPG5_000002 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - VICIS - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
-?/. - c.1009-10_1009-9dup r.(=) p.(=) Unknown - likely benign g.43532618_43532619dup g.45952652_45952653dup EPG5(NM_020964.3):c.1009-10_1009-9dupCC - EPG5_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1011T>G r.(?) p.(Gly337=) Unknown - likely benign g.43532607A>C g.45952641A>C EPG5(NM_020964.3):c.1011T>G (p.G337=) - EPG5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1017T>C r.(?) p.(Cys339=) Unknown - likely benign g.43532601A>G g.45952635A>G EPG5(NM_020964.3):c.1017T>C (p.C339=) - EPG5_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1049G>T r.(?) p.(Arg350Leu) Unknown - VUS g.43532569C>A - EPG5(NM_020964.3):c.1049G>T (p.R350L) - EPG5_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1253-37A>G r.(=) p.(=) Unknown - likely benign g.43531241T>C g.45951275T>C - - EPG5_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1271G>A r.(?) p.(Ser424Asn) Unknown - benign g.43531186C>T g.45951220C>T EPG5(NM_020964.2):c.1271G>A (p.(Ser424Asn)), EPG5(NM_020964.3):c.1271G>A (p.S424N) - EPG5_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1271G>A r.(?) p.(Ser424Asn) Unknown - benign g.43531186C>T g.45951220C>T EPG5(NM_020964.2):c.1271G>A (p.(Ser424Asn)), EPG5(NM_020964.3):c.1271G>A (p.S424N) - EPG5_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1271G>A r.(?) p.(Ser424Asn) Unknown - likely benign g.43531186C>T g.45951220C>T EPG5(NM_020964.2):c.1271G>A (p.(Ser424Asn)), EPG5(NM_020964.3):c.1271G>A (p.S424N) - EPG5_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1271G>A r.(?) p.(Ser424Asn) Unknown - benign g.43531186C>T g.45951220C>T EPG5(NM_020964.2):c.1271G>A (p.(Ser424Asn)), EPG5(NM_020964.3):c.1271G>A (p.S424N) - EPG5_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1399C>T r.(?) p.(Leu467=) Unknown - likely benign g.43529548G>A - EPG5(NM_020964.2):c.1399C>T (p.(Leu467=)) - EPG5_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1417C>T r.(?) p.(Pro473Ser) Unknown - VUS g.43529530G>A - EPG5(NM_020964.3):c.1417C>T (p.P473S) - EPG5_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1418C>T r.(?) p.(Pro473Leu) Unknown - likely benign g.43529529G>A - EPG5(NM_020964.3):c.1418C>T (p.P473L) - EPG5_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1453C>T r.(?) p.(Arg485Ter) Unknown - pathogenic g.43529494G>A g.45949528G>A EPG5(NM_020964.3):c.1453C>T (p.R485*) - EPG5_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1457G>T r.(?) p.(Cys486Phe) Unknown - VUS g.43529490C>A g.45949524C>A EPG5(NM_020964.3):c.1457G>T (p.C486F) - EPG5_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1461C>T r.(?) p.(Pro487=) Unknown - benign g.43529486G>A g.45949520G>A EPG5(NM_020964.3):c.1461C>T (p.P487=) - EPG5_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1461C>T r.(?) p.(Pro487=) Unknown - likely benign g.43529486G>A - EPG5(NM_020964.3):c.1461C>T (p.P487=) - EPG5_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1571+7G>A r.(=) p.(=) Unknown - likely benign g.43528462C>T g.45948496C>T EPG5(NM_020964.3):c.1571+7G>A - EPG5_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1609G>A r.(?) p.(Glu537Lys) Unknown - VUS g.43526697C>T - - - EPG5_000162 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1609G>A r.(?) p.(Glu537Lys) Unknown - VUS g.43526697C>T - - - EPG5_000162 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1609G>A r.(?) p.(Glu537Lys) Unknown - VUS g.43526697C>T - - - EPG5_000162 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.1613G>A r.(?) p.(Arg538Gln) Unknown - likely benign g.43526693C>T - EPG5(NM_020964.3):c.1613G>A (p.R538Q) - EPG5_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1766A>G r.(?) p.(Gln589Arg) Unknown - likely benign g.43523997T>C g.45944031T>C EPG5(NM_020964.2):c.1766A>G (p.(Gln589Arg)) - EPG5_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1793-35C>T r.(=) p.(=) Unknown - benign g.43523312G>A g.45943346G>A - - EPG5_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1795G>T r.(?) p.(Asp599Tyr) Unknown - VUS g.43523275C>A - EPG5(NM_020964.3):c.1795G>T (p.D599Y) - EPG5_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1830G>A r.(?) p.(Met610Ile) Unknown - VUS g.43523240C>T g.45943274C>T EPG5(NM_020964.3):c.1830G>A (p.M610I) - EPG5_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1867C>A r.(?) p.(Leu623Ile) Unknown - likely benign g.43523203G>T g.45943237G>T EPG5(NM_020964.3):c.1867C>A (p.L623I) - EPG5_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1924C>T r.(?) p.(Arg642*) Unknown - pathogenic g.43523146G>A - EPG5(NM_020964.3):c.1924C>T (p.R642*) - EPG5_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1948A>G r.(?) p.(Thr650Ala) Unknown - VUS g.43519717T>C g.45939751T>C EPG5(NM_020964.3):c.1948A>G (p.T650A) - EPG5_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1991A>C r.(?) p.(His664Pro) Unknown - likely benign g.43519674T>G - EPG5(NM_020964.3):c.1991A>C (p.H664P) - EPG5_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2006G>A r.(?) p.(Gly669Glu) Unknown - likely benign g.43519659C>T g.45939693C>T EPG5(NM_020964.3):c.2006G>A (p.G669E) - EPG5_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2019G>T r.(?) p.(Gln673His) Unknown - likely benign g.43519646C>A g.45939680C>A EPG5(NM_020964.3):c.2019G>T (p.Q673H) - EPG5_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2063T>C r.(?) p.(Phe688Ser) Unknown - benign g.43519602A>G g.45939636A>G EPG5(NM_020964.3):c.2063T>C (p.F688S) - EPG5_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2063T>C r.(?) p.(Phe688Ser) Unknown - likely benign g.43519602A>G g.45939636A>G EPG5(NM_020964.3):c.2063T>C (p.F688S) - EPG5_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2176C>T r.(?) p.(Leu726Phe) Unknown - VUS g.43514856G>A g.45934890G>A EPG5(NM_020964.3):c.2176C>T (p.L726F) - EPG5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2178C>A r.(?) p.(Leu726=) Unknown - likely benign g.43514854G>T g.45934888G>T EPG5(NM_020964.3):c.2178C>A (p.L726=) - EPG5_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2187G>C r.(?) p.(Gln729His) Unknown - likely benign g.43514845C>G - EPG5(NM_020964.2):c.2187G>C (p.(Gln729His)) - EPG5_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2189T>C r.(?) p.(Val730Ala) Unknown - likely benign g.43514843A>G g.45934877A>G EPG5(NM_020964.3):c.2189T>C (p.V730A) - EPG5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2233G>A r.(?) p.(Ala745Thr) Unknown - likely benign g.43514799C>T g.45934833C>T EPG5(NM_020964.2):c.2233G>A (p.(Ala745Thr)) - EPG5_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2259C>T r.(?) p.(Asp753=) Unknown - VUS g.43510795G>A g.45930829G>A EPG5(NM_020964.2):c.2259C>T (p.?), EPG5(NM_020964.3):c.2259C>T (p.D753=) - EPG5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2259C>T r.(?) p.(Asp753=) Unknown - likely benign g.43510795G>A g.45930829G>A EPG5(NM_020964.2):c.2259C>T (p.?), EPG5(NM_020964.3):c.2259C>T (p.D753=) - EPG5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2301G>A r.(?) p.(Met767Ile) Unknown - VUS g.43510753C>T - - - EPG5_000161 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.2303A>G r.(?) p.(Asn768Ser) Unknown - VUS g.43510751T>C - EPG5(NM_020964.3):c.2303A>G (p.N768S) - EPG5_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2374G>A r.(?) p.(Glu792Lys) Unknown - VUS g.43510680C>T - - - EPG5_000158 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.2374G>A r.(?) p.(Glu792Lys) Unknown - VUS g.43510680C>T - - - EPG5_000158 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.2413-7dup r.(=) p.(=) Unknown - likely benign g.43508987dup g.45929021dup EPG5(NM_020964.3):c.2413-7dupC - EPG5_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2426C>T r.(?) p.(Thr809Ile) Unknown - likely benign g.43508962G>A - EPG5(NM_020964.3):c.2426C>T (p.T809I) - EPG5_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2508C>T r.(?) p.(=) Unknown - likely benign g.43508880G>A - EPG5(NM_020964.3):c.2508C>T (p.(Ser836=)) - EPG5_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2532G>C r.(?) p.(Glu844Asp) Unknown - benign g.43508856C>G g.45928890C>G - - EPG5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2553+35C>T r.(=) p.(=) Unknown - likely benign g.43508800G>A g.45928834G>A - - EPG5_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2609C>G r.(?) p.(Ser870Cys) Unknown ACMG likely pathogenic g.43505813G>C - - - EPG5_000138 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.2610T>G r.(?) p.(Ser870=) Unknown - likely benign g.43505812A>C - EPG5(NM_020964.3):c.2610T>G (p.S870=) - EPG5_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2619G>A r.(?) p.(Ala873=) Unknown - likely benign g.43505803C>T g.45925837C>T EPG5(NM_020964.3):c.2619G>A (p.A873=) - EPG5_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2690A>G r.(?) p.(Glu897Gly) Unknown - VUS g.43505732T>C g.45925766T>C EPG5(NM_020964.2):c.2690A>G (p.(Glu897Gly)), EPG5(NM_020964.3):c.2690A>G (p.E897G) - EPG5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2690A>G r.(?) p.(Glu897Gly) Unknown - VUS g.43505732T>C g.45925766T>C EPG5(NM_020964.2):c.2690A>G (p.(Glu897Gly)), EPG5(NM_020964.3):c.2690A>G (p.E897G) - EPG5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2718+3A>G r.spl? p.? Unknown - VUS g.43505701T>C g.45925735T>C EPG5(NM_020964.3):c.2718+3A>G - EPG5_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2809G>T r.(?) p.(Ala937Ser) Unknown - likely benign g.43503263C>A - EPG5(NM_020964.3):c.2809G>T (p.A937S) - EPG5_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2911T>G r.(?) p.(Leu971Val) Unknown - benign g.43502494A>C g.45922528A>C EPG5(NM_020964.2):c.2911T>G (p.(Leu971Val)), EPG5(NM_020964.3):c.2911T>G (p.L971V) - EPG5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2911T>G r.(?) p.(Leu971Val) Unknown - VUS g.43502494A>C g.45922528A>C EPG5(NM_020964.2):c.2911T>G (p.(Leu971Val)), EPG5(NM_020964.3):c.2911T>G (p.L971V) - EPG5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2958G>A r.(?) p.(Pro986=) Unknown - likely benign g.43502447C>T - EPG5(NM_020964.3):c.2958G>A (p.P986=) - EPG5_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2964T>C r.(?) p.(Cys988=) Unknown - likely benign g.43502441A>G g.45922475A>G EPG5(NM_020964.3):c.2964T>C (p.C988=) - EPG5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2998A>G r.(?) p.(Met1000Val) Unknown - VUS g.43502407T>C g.45922441T>C EPG5(NM_020964.3):c.2998A>G (p.M1000V) - EPG5_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3002C>T r.(?) p.(Thr1001Ile) Unknown - VUS g.43502403G>A - EPG5(NM_020964.3):c.3002C>T (p.T1001I) - EPG5_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3014C>T r.(?) p.(Thr1005Met) Unknown - likely benign g.43502391G>A - EPG5(NM_020964.3):c.3014C>T (p.T1005M) - EPG5_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3077C>G r.(?) p.(Ser1026Cys) Unknown - likely benign g.43502328G>C g.45922362G>C EPG5(NM_020964.3):c.3077C>G (p.S1026C) - EPG5_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3173T>C r.(?) p.(Val1058Ala) Unknown - benign g.43497710A>G g.45917745A>G - - EPG5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3240-16C>T r.(=) p.(=) Unknown - likely benign g.43496563G>A g.45916598G>A EPG5(NM_020964.3):c.3240-16C>T - EPG5_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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