Full data view for gene EMC1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_015047.2 transcript reference sequence.

118 entries on 2 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.? r.(?) p.(Trp12Glyfs*5) Unknown - likely benign g.? - p.Leu321fs - NPHS2_000000 - PubMed: Bhatia 2019 - - Germline no - - - - DNA SEQ-NG, SEQ blood - retinal disease IV:1 PubMed: Bhatia 2019 - F yes - India - - - - 1 LOVD
?/. - c.38C>T r.(?) p.(Ala13Val) Unknown - VUS g.19577966G>A g.19251472G>A - - EMC1_000047 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. 2 c.107A>C r.(?) p.(Tyr36Ser) Unknown - likely pathogenic (recessive) g.19571513T>G - A107C - EMC1_000067 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - - Germline - - - - - DNA SEQ, SEQ-NG Blood WES COD patient PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 2-generation family, 1 affected, unaffected parents M no Japan - >20y - - - 1 Najlae Akhiyate
?/. - c.155A>G r.(?) p.(Lys52Arg) Unknown - VUS g.19571465T>C g.19244971T>C - - EMC1_000046 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201537299 Germline - 6/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 6 Yoshito Koyanagi
?/. 2 c.155A>G r.(?) p.(Lys52Arg) Unknown - VUS g.19571465T>C g.19244971T>C A155G - EMC1_000046 - PubMed: Katagiri 2014 - rs201537299 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#024 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+/. 3 c.245C>T r.(?) p.(Thr82Met) Both (homozygous) - pathogenic g.19570485G>A g.19243991G>A - - EMC1_000002 - PubMed: Harel T 2016, Journal: Harel T 2016 - - Germline yes - - - - DNA SEQ - - DD 26942288 F2 BAB3445 PubMed: Harel 2016, Journal: Harel 2016 3-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents M yes Turkey - >13y - - - 4 Pieter Klap
+/. 3 c.245C>T r.(?) p.(Thr82Met) Both (homozygous) - pathogenic g.19570485G>A g.19243991G>A - - EMC1_000002 - PubMed: Harel 2016, Journal: Harel 2016 - - Germline yes - - - - DNA SEQ - - DD 26942288 F2 BAB3446 PubMed: Harel 2016, Journal: Harel 2016 brother M yes Turkey - >05y - - - 1 Pieter Klap
+/. 3 c.245C>T r.(?) p.(Thr82Met) Both (homozygous) - pathogenic g.19570485G>A g.19243991G>A - - EMC1_000002 - PubMed: Harel T 2016, Journal: Harel T 2016 - - Germline yes - - - - DNA SEQ - - DD 26942288 F2 BAB4742 PubMed: Harel 2016, Journal: Harel 2016 niece F yes Turkey - >03y - - - 1 Pieter Klap
-?/. - c.264T>C r.(?) p.(=) Unknown - likely benign g.19570466A>G - EMC1(NM_001375820.1):c.264T>C (p.D88=) - EMC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279C>T r.(?) p.(His93=) Unknown - likely benign g.19570451G>A - EMC1(NM_015047.2):c.279C>T (p.H93=) - EMC1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.286+18G>T r.(=) p.(=) Unknown - likely benign g.19570426C>A g.19243932C>A EMC1(NM_015047.3):c.286+18G>T - EMC1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i c.287-1G>A r.[286_287ins[286+1_287-2;a],286_287ins[287-91_287-2;a],287_310del,287_380del] p.[Asp96Glyfs*45,Asp96Glufs*22,Asp96_Gly103del,Asp96Valfs*14] Maternal (confirmed) - likely pathogenic g.19570202C>T g.19243708C>T - r.286_287ins286+1_287-1, r.286_287ins287-91_287-1, r.287_310del, r.287_380del EMC1_000082 - - 445564 rs751484278 Germline yes - - - - DNA SEQ-NG - WES, WGS, RT-PCR, WB CAVIPMR FamHXPatI - - F no New Zealand NZ Maori/Samoan 07y - - - 1 Sandra Cooper
?/. - c.314G>A r.(?) p.(Arg105Gln) Unknown - VUS g.19570174C>T - EMC1(NM_015047.2):c.314G>A (p.R105Q) - EMC1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380+16G>A r.(=) p.(=) Unknown - benign g.19570092C>T g.19243598C>T EMC1(NM_015047.3):c.380+16G>A - EMC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381-6G>C r.(=) p.(=) Unknown - likely benign g.19568973C>G - EMC1(NM_015047.2):c.381-6G>C - EMC1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.381-5T>C r.spl? p.? Unknown - VUS g.19568972A>G g.19242478A>G - - EMC1_000045 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs710865 Germline - 451/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 451 Yoshito Koyanagi
?/. - c.381-5T>C r.spl? p.? Both (homozygous) - VUS g.19568972A>G g.19242478A>G - - EMC1_000045 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs710865 Germline - 675/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 675 Yoshito Koyanagi
+/. 5 c.430G>A r.(?) p.(Ala144Thr) Both (homozygous) - pathogenic g.19568918C>T g.19242424C>T - - EMC1_000001 - PubMed: Abu-Safieh-2013 - - Unknown - - - - - DNA SEQ-NG-I - - RP - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
?/. 6 c.543del r.(?) p.(Tyr181Ter) Unknown - VUS g.19567603del g.19241109del 543delC - EMC1_000073 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Katagiri 2014 index patient F no Japan Japanese - - - - 1 Rob W.J. Collin
-?/. - c.608A>G r.(?) p.(Asn203Ser) Unknown - likely benign g.19567538T>C g.19241044T>C EMC1(NM_015047.2):c.608A>G (p.N203S) - EMC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.608A>G r.(?) p.(Asn203Ser) Unknown - VUS g.19567538T>C g.19241044T>C A608G - EMC1_000020 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#008 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.662A>G r.(?) p.(Gln221Arg) Unknown - VUS g.19566915T>C g.19240421T>C - - EMC1_000044 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.692A>G r.(?) p.(Asp231Gly) Unknown - VUS g.19566885T>C g.19240391T>C - - EMC1_000043 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs571944461 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.700G>A r.(?) p.(Val234Ile) Unknown - VUS g.19566877C>T - EMC1(NM_015047.3):c.700G>A (p.(Val234Ile)) - EMC1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.702C>T r.(?) p.(Val234=) Unknown - likely benign g.19566875G>A - EMC1(NM_015047.3):c.702C>T (p.V234=) - EMC1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.717C>G r.(?) p.(Asp239Glu) Unknown - VUS g.19566860G>C - EMC1(NM_015047.2):c.717C>G (p.D239E), EMC1(NM_015047.3):c.717C>G (p.D239E) - EMC1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.717C>G r.(?) p.(Asp239Glu) Unknown - VUS g.19566860G>C - EMC1(NM_015047.2):c.717C>G (p.D239E), EMC1(NM_015047.3):c.717C>G (p.D239E) - EMC1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.719C>T r.(?) p.(Pro240Leu) Unknown - benign g.19566858G>A g.19240364G>A EMC1(NM_015047.2):c.719C>T (p.P240L), EMC1(NM_015047.3):c.719C>T (p.P240L) - EMC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.719C>T r.(?) p.(Pro240Leu) Unknown - likely benign g.19566858G>A g.19240364G>A EMC1(NM_015047.2):c.719C>T (p.P240L), EMC1(NM_015047.3):c.719C>T (p.P240L) - EMC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.787-16_787-14del r.(=) p.(=) Unknown - benign g.19566500_19566502del g.19240006_19240008del EMC1(NM_015047.3):c.787-16_787-14delCCT - EMC1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.787-13T>C r.(=) p.(=) Unknown - likely benign g.19566492A>G - EMC1(NM_001375820.1):c.787-13T>C - EMC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.820C>T r.(?) p.(Pro274Ser) Unknown - VUS g.19566446G>A g.19239952G>A - - EMC1_000042 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs772631363 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.823C>G r.(?) p.(Arg275Gly) Unknown - VUS g.19566443G>C g.19239949G>C - - EMC1_000041 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
?/. - c.824G>A r.(?) p.(Arg275Gln) Unknown - VUS g.19566442C>T g.19239948C>T - - EMC1_000040 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs374425694 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-?/. - c.856G>A r.(?) p.(Ala286Thr) Unknown - likely benign g.19566410C>T - EMC1(NM_015047.2):c.856G>A (p.(Ala286Thr)) - EMC1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.858T>G r.(?) p.(Ala286=) Unknown - benign g.19566408A>C g.19239914A>C EMC1(NM_015047.2):c.858T>G (p.A286=), EMC1(NM_015047.3):c.858T>G (p.A286=) - EMC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.858T>G r.(?) p.(Ala286=) Unknown - likely benign g.19566408A>C g.19239914A>C EMC1(NM_015047.2):c.858T>G (p.A286=), EMC1(NM_015047.3):c.858T>G (p.A286=) - EMC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.884T>C r.(?) p.(Leu295Ser) Unknown - VUS g.19566382A>G g.19239888A>G - - EMC1_000039 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs3850531 Germline - 141/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 141 Yoshito Koyanagi
?/. - c.884T>C r.(?) p.(Leu295Ser) Both (homozygous) - VUS g.19566382A>G g.19239888A>G - - EMC1_000039 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs3850531 Germline - 9/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 9 Yoshito Koyanagi
-?/. - c.912G>T r.(?) p.(Gln304His) Unknown - likely benign g.19566354C>A - EMC1(NM_015047.3):c.912G>T (p.(Gln304His)) - EMC1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.979A>C r.(?) p.(Thr327Pro) Unknown - VUS g.19565772T>G g.19239278T>G - - EMC1_000038 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.1016G>A r.(?) p.(Arg339Gln) Unknown - VUS g.19565735C>T - EMC1(NM_015047.3):c.1016G>A (p.R339Q) - EMC1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1027-17C>T r.(=) p.(=) Unknown - benign g.19565368G>A g.19238874G>A EMC1(NM_015047.3):c.1027-17C>T - EMC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1034G>C r.(?) p.(Ser345Thr) Unknown - VUS g.19565344C>G g.19238850C>G - - EMC1_000037 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs709683 Germline - 450/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 450 Yoshito Koyanagi
?/. - c.1034G>C r.(?) p.(Ser345Thr) Both (homozygous) - VUS g.19565344C>G g.19238850C>G - - EMC1_000037 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs709683 Germline - 675/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 675 Yoshito Koyanagi
?/. - c.1040G>A r.(?) p.(Ser347Asn) Unknown - VUS g.19565338C>T g.19238844C>T - - EMC1_000036 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs709682 Germline - 230/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 230 Yoshito Koyanagi
?/. - c.1040G>A r.(?) p.(Ser347Asn) Both (homozygous) - VUS g.19565338C>T g.19238844C>T - - EMC1_000036 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs709682 Germline - 26/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 26 Yoshito Koyanagi
-?/. - c.1058T>C r.(?) p.(Met353Thr) Unknown - likely benign g.19565320A>G - EMC1(NM_001375820.1):c.1058T>C (p.M353T) - EMC1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1071G>A r.(?) p.(Ser357=) Unknown - benign g.19565307C>T g.19238813C>T EMC1(NM_015047.3):c.1071G>A (p.S357=) - EMC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1089+1G>T r.spl? p.? Unknown - likely pathogenic g.19565288C>A - EMC1(NM_015047.2):c.1089+1G>T - EMC1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1134C>A r.(?) p.(Tyr378*) Parent #2 - pathogenic (recessive) g.19564589G>T - c.1134C>A - EMC1_000080 - PubMed: Cabet 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - WES retinal disease II.2 PubMed: Cabet-2020 - M no (France) - - - - - 1 LOVD
?/. - c.1168A>G r.(?) p.(Thr390Ala) Unknown - VUS g.19564555T>C g.19238061T>C - - EMC1_000035 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.1169C>T r.(?) p.(Thr390Met) Unknown - VUS g.19564554G>A g.19238060G>A - - EMC1_000034 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs144716849 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
-?/. - c.1169C>T r.(?) p.(Thr390Met) Unknown - likely benign g.19564554G>A g.19238060G>A EMC1(NM_015047.2):c.1169C>T (p.(Thr390Met)) - EMC1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1169C>T r.(?) p.(Thr390Met) Unknown ACMG VUS g.19564554G>A g.19238060G>A c.1169C>T - EMC1_000034 single heterozygous variant in a recessive gene, probably not causative in the patient PubMed: Hosono 2018 - rs144716849 Germline no - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease EYE139 PubMed: Hosono 2018 proband, family EYE139 M no Japan Asian - - - - 1 LOVD
?/. 11 c.1187A>C r.(?) p.(Glu396Ala) Unknown ACMG VUS g.19564536T>G g.19238042T>G c.1187A>C - EMC1_000074 single heterozygous variant in a recessive gene, probably not causative in the patient PubMed: Hosono 2018 - - Germline no - - - - DNA SEQ-NG, SEQ, MLPA blood Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A>, G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencing, The RPGR exon ORF15 analysis, multiplex ligation-dependent probe amplification analysis retinal disease EYE152 PubMed: Hosono 2018 proband, family EYE152 F no Japan Asian - - - - 1 LOVD
?/. 11 c.1201C>T r.(?) p.(Arg401Trp) Unknown - VUS g.19564522G>A - chr1:19564522; G>A, p.Arg401Trp), - EMC1_000079 - PubMed: Geetha-2018 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ blood Exome and Targeted NGS retinal disease IV.1 PubMed: Geetha-2018 - F yes (India) - - - - - 1 LOVD
?/. - c.1202G>A r.(?) p.(Arg401Gln) Unknown - VUS g.19564521C>T g.19238027C>T - - EMC1_000033 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs146431577 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. 11i c.1212+1G>A r.1212_1213insains1212+2_1213-1 p.fs* Both (homozygous) - likely pathogenic g.19564510C>T g.19238016C>T - - EMC1_000006 not observed in public databases (EXAC, 1000Genome) or internal database - - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-I Blood - CAVIPMR proband - - M yes India Indian - - yes - 1 MedGenome_db
+?/. 11i c.1212+1G>A r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.19564510C>T - c.1212 + 1G>A - EMC1_000006 - PubMed: Geetha-2018 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ blood Exome and Targeted NGS retinal disease IV.1 PubMed: Geetha-2018 - F yes (India) - - - - - 1 LOVD
?/. - c.1321G>A r.(?) p.(Val441Met) Unknown - VUS g.19561735C>T g.19235241C>T - - EMC1_000032 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-?/. - c.1335T>C r.(?) p.(Arg445=) Unknown - likely benign g.19561721A>G g.19235227A>G EMC1(NM_015047.2):c.1335T>C (p.R445=) - EMC1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1401C>T r.(?) p.(Ala467=) Unknown - likely benign g.19561655G>A g.19235161G>A EMC1(NM_015047.2):c.1401C>T (p.A467=) - EMC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1411G>C r.(?) p.(Gly471Arg) Unknown - pathogenic g.19561645C>G g.19235151C>G - - EMC1_000004 - PubMed: Harel T 2016, Journal: Harel T 2016 - - De novo - - - - - DNA SEQ - - DD 26942288 F4 BH14387_1 PubMed: Harel 2016, Journal: Harel 2016 2-generation family, 1 affected, unaffected non-carrier parents M no - - >12y - - - 1 Pieter Klap
+/. 13 c.1411G>C r.(?) p.(Gly471Arg) Parent #1 - pathogenic g.19561645C>G g.19235151C>G - - EMC1_000004 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBH4387_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.1485G>T r.(?) p.(Leu495=) Unknown - likely benign g.19559577C>A g.19233083C>A EMC1(NM_015047.3):c.1485G>T (p.L495=) - EMC1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1554del r.(?) p.(Asn518Lysfs*18) Unknown - VUS g.19559508del - EMC1(NM_015047.2):c.1554delT (p.(Asn518fs)) - EMC1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1676A>G r.(?) p.(Gln559Arg) Unknown - VUS g.19559224T>C g.19232730T>C - - EMC1_000031 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-?/. - c.1743C>T r.(?) p.(Phe581=) Unknown - likely benign g.19559157G>A g.19232663G>A EMC1(NM_015047.2):c.1743C>T (p.F581=), EMC1(NM_015047.3):c.1743C>T (p.F581=) - EMC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1743C>T r.(?) p.(Phe581=) Unknown - benign g.19559157G>A g.19232663G>A EMC1(NM_015047.2):c.1743C>T (p.F581=), EMC1(NM_015047.3):c.1743C>T (p.F581=) - EMC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1744C>T r.(?) p.(Pro582Ser) Unknown - likely pathogenic g.19559156G>A - EMC1(NM_015047.3):c.1744C>T (p.P582S) - EMC1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1745C>A r.(?) p.(Pro582His) Unknown - VUS g.19559155G>T g.19232661G>T - - EMC1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1782+3G>A r.spl? p.? Unknown - likely benign g.19559115C>T g.19232621C>T EMC1(NM_015047.2):c.1782+3G>A - EMC1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1787C>T r.(?) p.(Ser596Leu) Unknown - VUS g.19557912G>A g.19231418G>A - - EMC1_000030 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs140940082 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
-?/. - c.1787C>T r.(?) p.(Ser596Leu) Unknown - likely benign g.19557912G>A g.19231418G>A EMC1(NM_015047.2):c.1787C>T (p.(Ser596Leu)) - EMC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1815T>A r.(?) p.(Asn605Lys) Unknown - VUS g.19557884A>T g.19231390A>T EMC1(NM_015047.1):c.1815T>A (p.(Asn605Lys)) - EMC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1856del r.(?) p.(Leu619Argfs*24) Unknown - VUS g.19557843del - EMC1(NM_015047.3):c.1856del (p.(Leu619Argfs*24)) - EMC1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1893C>G r.(?) p.(Val631=) Unknown - likely benign g.19557806G>C g.19231312G>C EMC1(NM_015047.2):c.1893C>G (p.V631=) - EMC1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1897G>T r.(?) p.(Asp633Tyr) Unknown - VUS g.19557802C>A g.19231308C>A - - EMC1_000029 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-?/. - c.1908C>T r.(?) p.(=) Unknown - likely benign g.19557791G>A - EMC1(NM_015047.3):c.1908C>T (p.(Tyr636=)) - EMC1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1948A>G r.(?) p.(Thr650Ala) Unknown - likely benign g.19557454T>C - EMC1(NM_015047.2):c.1948A>G (p.(Thr650Ala)) - EMC1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2008T>C r.(?) p.(Phe670Leu) Unknown - VUS g.19557394A>G g.19230900A>G - - EMC1_000028 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs2275402 Germline - 14/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 14 Yoshito Koyanagi
?/. 17 c.2008T>C r.(?) p.(Phe670Leu) Unknown - VUS g.19557394A>G g.19230900A>G T2008C - EMC1_000028 - PubMed: Katagiri 2014 - rs2275402 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#006 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.2025T>G r.(?) p.(Asp675Glu) Unknown - VUS g.19557377A>C g.19230883A>C - - EMC1_000027 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs773767036 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.2054G>A r.(?) p.(Arg685Gln) Unknown - VUS g.19557348C>T g.19230854C>T - - EMC1_000026 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs149861361 Germline - 9/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 9 Yoshito Koyanagi
?/. - c.2054G>A r.(?) p.(Arg685Gln) Both (homozygous) - VUS g.19557348C>T g.19230854C>T - - EMC1_000026 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs149861361 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-?/. - c.2060G>A r.(?) p.(Arg687Gln) Unknown - likely benign g.19557342C>T g.19230848C>T EMC1(NM_015047.3):c.2060G>A (p.R687Q) - EMC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2128G>A r.(?) p.(Val710Met) Unknown - VUS g.19553881C>T - EMC1(NM_015047.3):c.2128G>A (p.(Val710Met)) - EMC1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2203-5_2203-4del r.spl? p.? Unknown - likely benign g.19550077_19550078del - EMC1(NM_015047.3):c.2203-5_2203-4del, EMC1(NM_015047.3):c.2203-5_2203-4delTC - EMC1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2203-5_2203-4del r.spl? p.? Unknown - likely benign g.19550077_19550078del - EMC1(NM_015047.3):c.2203-5_2203-4del, EMC1(NM_015047.3):c.2203-5_2203-4delTC - EMC1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2248G>A r.(?) p.(Ala750Thr) Unknown - likely benign g.19550018C>T - EMC1(NM_015047.2):c.2248G>A (p.A750T) - EMC1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2249C>T r.(?) p.(Ala750Val) Unknown - likely benign g.19550017G>A g.19223523G>A EMC1(NM_015047.2):c.2249C>T (p.A750V) - EMC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2262C>T r.(?) p.(Arg754=) Unknown - benign g.19550004G>A g.19223510G>A EMC1(NM_015047.3):c.2262C>T (p.R754=) - EMC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2265C>T r.(?) p.(Thr755=) Unknown - likely benign g.19550001G>A g.19223507G>A EMC1(NM_015047.2):c.2265C>T (p.T755=) - EMC1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2273G>C r.(?) p.(Gly758Ala) Unknown - VUS g.19549993C>G g.19223499C>G EMC1(NM_015047.2):c.2273G>C (p.G758A) - EMC1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2281del r.(?) p.(Leu761SerfsTer102) Unknown - likely pathogenic g.19549986del - EMC1(NM_015047.3):c.2281delC (p.L761Sfs*102) - EMC1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2317T>A r.(?) p.(Ser773Thr) Unknown - VUS g.19549949A>T g.19223455A>T - - EMC1_000025 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.2404C>T r.(?) p.(Arg802Cys) Unknown - VUS g.19549301G>A g.19222807G>A - - EMC1_000024 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs372151221 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.2408A>G r.(?) p.(Asn803Ser) Unknown - VUS g.19549297T>C g.19222803T>C - - EMC1_000023 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs767398238 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.2408A>G r.(?) p.(Asn803Ser) Both (homozygous) - VUS g.19549297T>C g.19222803T>C - - EMC1_000023 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs767398238 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
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