Full data view for gene MERTK

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006343.2 transcript reference sequence.

462 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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.(1-?)_(1144+1_1145-1)del r.? p.(?) - Parent #1 - pathogenic g.? - c.(1-?)_(1144+1_1145-1)del - SNRNP200_000007 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.(482+1_483-1)_(*127+?)del r.? p.(Ser161Argfs*35) - Parent #1 - pathogenic g.? - c.(482+1_483-1)_(*127+?)del - SNRNP200_000007 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. - p.0 r.0? p.0? - Parent #1 - likely pathogenic g.? g.? MERTK, variant 1: c.1689_1690+5delinsATATTA/p.?, variant 2 :Deletion entire gene - SNRNP200_000007 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 850 PubMed: Weisschuh 2020 Filing key number: 350, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.-8163_1145-1213del r.? p.? - Both (homozygous) - pathogenic g.112648150_112739206del g.111890573_111981629del c.-8163_c.1145-1213del - MERTK_000208 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS retinal disease 065240 PubMed: Ellingford 2016 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 1i_10i c.-8162_1145-1212del r.spl? p.? - Unknown - likely pathogenic g.112648151_112739207del - c.-8162_1145-1212del, p.? - MERTK_000209 - PubMed: Jonsson 2018 - - Germline - - - - - DNA, RNA PE, SEQ-NG, RT-PCR, SEQ blood - retinal disease RP115 PubMed: Jonsson 2018 novel heterozygous variant in the MER proto-oncogene, tyrosine kinase F - - Sweden - - - - 1 LOVD
+?/. 1i_10i c.-8162_1145-1212del r.spl? p.? - Unknown - likely pathogenic g.112648151_112739207del - c.-8162_1145-1212del, p.? - MERTK_000209 - PubMed: Jonsson 2018 - - Germline - - - - - DNA, RNA PE, SEQ-NG, RT-PCR, SEQ blood - retinal disease RP116 PubMed: Jonsson 2018 novel heterozygous variant in the MER proto-oncogene, tyrosine kinase M - - Sweden - - - - 1 LOVD
+/. _1_7i c.-8160_1145-1213del r.0? p.0? - Both (homozygous) - pathogenic g.112648153_112739206del g.111890576_111981629del hg18 112364622_112455675del91054 - MERTK_000040 91 kb deletion, founder mutation Faroe Island, represents 30% of RP PubMed: Ostergaard 2011 - - Germline - - - - - DNA SEQ - - retinal disease ? PubMed: Ostergaard 2011 - - - Faroe Islands - - - - - 1 Isabelle Audo
+/. - c.(?_-1)_(1144+1_1145-1)del r.(?) p.(?) - Both (homozygous) ACMG pathogenic g.? g.? MERTK c.(?_-1) _(1144+1_1145-1)del c.(?_-1) _(1144+1_1145-1)del - SNRNP200_000007 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 152 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.(?_-1)_(1144+1_1145-1)del r.(?) p.(?) - Unknown ACMG likely pathogenic g.? g.? MERTK c.757+1G>A, p.(?) c.(?_-1) _(1144+1_1145-1)del - SNRNP200_000007 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 155 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 2i_19_ c.(482+1_483-1)_*504{0} r.? p.? - Unknown - likely pathogenic g.(?_112702532)_(112786446_?)del - del ex3-19 - MERTK_000196 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 15000307 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. _1_7i c.-122_(1144+1_1145-1){0} r.0? p.0? - Unknown - likely pathogenic g.(?_112656308)_(112733054_112740418)del - del ex1-7 - MERTK_000194 - PubMed: Ellingford 2017, PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 15006709 PubMed: Ellingford 2017, PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. _1_1i c.-122_(61+4262_?){0} r.0? p.0? - Unknown - likely pathogenic g.(?_112624327)_(112660635_?)del g.(?_111866750)_(111903058_?)del chr2:112624327_112660635del - MERTK_000190 range 59-36308 bp in various techniques, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, PCRq blood - retinal disease OGI2930_004515 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.0 r.0? p.0? - Unknown - likely pathogenic g.111408390_113315808del g.110650813_112558231del arr[hg19] 2q13(111408390-113315808) del - MERTK_000175 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I, arrayCGH - - retinal disease RP-0236 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+/. - c.0 r.(?) p.0 - Unknown ACMG pathogenic g.111371701_113132395del g.110614124_112374818del MERTK:NM_006343, - ACOXL_000006 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-442 PubMed: Rodriguez-Munoz 2020 family fRPN-197, proband F - Spain - - - - - 1 LOVD
+/. - c.? r.? p.? - Unknown ACMG pathogenic g.? - NM_006343.2:c.62_3697del - SNRNP200_000007 - 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
+/. 1i_19i c.? r.? p.? - Parent #1 - pathogenic (recessive) g.? - deletion ex2-19 - SNRNP200_000007 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat114 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
+?/. - c.? r.? p.? - Parent #2 - likely pathogenic g.? - del 13 genes incl. MERTK - SNRNP200_000007 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 45 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) - Both (homozygous) - likely pathogenic g.? g.? MERTK Partial deletion at 2q13 (77kb) - SNRNP200_000007 homozygous, partial deletion at 2q13 (77kb) PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 86 PubMed: Jauregui 2020 - F - (United States) African American - - - - 1 LOVD
+?/. - c.? r.0? p.0? - Unknown - likely pathogenic g.112648147_112739204del - chr2:g.112648147_112739204del - SNRNP200_000007 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001054 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.? r.spl p.(?) - Unknown - likely pathogenic g.? g.? MERTK Multi-exon (3-19) deletion - SNRNP200_000007 heterozygous PubMed: Méjécase 2020 - - Unknown ? - - - - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 55 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - 1 LOVD
+/. 1 c.3G>A r.(?) p.(Met1?) - Both (homozygous) - pathogenic g.112656315G>A g.111898738G>A p.(Met1?) - MERTK_000041 - PubMed: Jinda 2016 - - Germline - - - - - DNA SEQ - - retinal disease ? PubMed: Jinda 2016 - - - Thailand - - - - - 1 Isabelle Audo
+?/. - c.3G>A r.(?) p.(Met1?) - Unknown - likely pathogenic g.112656315G>A - - - MERTK_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.20C>T r.(?) p.(Pro7Leu) - Paternal (confirmed) - VUS g.112656332C>T - - - MERTK_000157 - PubMed: Sundaramurthy 2016 - - Germline no - - - - DNA SEQ - - retinal disease Fam03 PubMed: Sundaramurthy 2016 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes India - - - - - 1 Johan den Dunnen
+/. 1 c.35T>C r.(?) p.(Leu12Pro) signal peptide Both (homozygous) - pathogenic g.112656347T>C g.111898770T>C - - MERTK_000042 Align GVGD class C0; SIFT Deleterious (score: 0.04); Mutation Taster polymorphism (p-value: 1); Polyphen2 possibly damaging with a score of 0.910 PubMed: Tada 2006 - rs755593299 Germline - - - - - DNA SEQ - - retinal disease ? PubMed: Tada 2006 - - - Japan - - - - - 1 Isabelle Audo
-?/. 1 c.59G>C r.(?) p.(Arg20Thr) signal peptide Both (homozygous) - likely benign g.112656371G>C g.111898794G>C - - MERTK_000043 considered this variant as most likely not disease causing since Arg20Ser (rs35898499) has a MAF of 0.05467 and the residue is poorly conserved; Align GVGD class C0; SIFT tolerated (score 0.38); Mutation Taster polymorphism (p value=1); Polyphen2 benign with a score of 0 (sensitivity: 1.00; specificity: 0.00) with poor conservation (polymorphic residue with a Thr present in Opossum) PubMed: Tschernutter 2006 - rs552509122 Germline - - - - - DNA SEQ - - retinal disease ? PubMed: Tschernutter 2006 - - - Pakistan - - - - - 1 Isabelle Audo
+/. 1 c.60del r.(?) p.(Ala21Leufs*43) N-terminus Parent #1 - pathogenic g.112656372del g.111898795del - - MERTK_000044 putative compound hetetorzygous PubMed: Audo 2018 - - Germline - - - - - DNA SEQ - - retinal disease ? PubMed: Audo 2018 - - - France - - - - - 1 Isabelle Audo
+/. 1i c.61+1G>A r.spl p.? N-terminus Parent #1 - pathogenic g.112656374G>A g.111898797G>A - - MERTK_000045 - PubMed: Mackay 2010 - - Germline - - - - - DNA SEQ - - RD ? PubMed: Mackay 2010 - M no - white - - - - 1 Isabelle Audo
-?/. - c.61+3G>C r.spl? p.? - Unknown - likely benign g.112656376G>C g.111898799G>C MERTK(NM_006343.2):c.61+3G>C - MERTK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.61+3G>C r.spl? p.? - Unknown - VUS g.112656376G>C g.111898799G>C - - MERTK_000006 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat15 PubMed: Costa 2017 - M - Brazil - - - - - 1 LOVD
+/. 1i c.62-1G>A r.spl p.? N-terminus Parent #1 - pathogenic g.112686696G>A g.111929119G>A - - MERTK_000046 - PubMed: Wang 2014b - - Germline - - - - - DNA SEQ - - retinal disease 20 PubMed: Wang 2014b - M - United States - - - - - 1 Isabelle Audo
+?/. - c.(61+1_62-1)_(482+1_483-1)dup r.(?) p.(?) - Unknown ACMG likely pathogenic g.? g.? MERTK c.(61+1_62-1)_(482+1_483-1)dup - SNRNP200_000007 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 424 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. _2_19_,2 c.(61+1_62-1)_(*504_?)del r.(?) p.(?) - Unknown - likely pathogenic g.? g.? MERTK Deletion of exons 2-19, c.369C>G, p.Tyr123* - SNRNP200_000007 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 136 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+/. 2 c.79G>T r.(?) p.(Glu27*) - Paternal (confirmed) ACMG pathogenic g.112686714G>T g.111929137G>T - - MERTK_000164 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 307 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 2 LOVD
+/. 2 c.79G>T r.(?) p.(Glu27*) - Paternal (confirmed) ACMG pathogenic g.112686714G>T g.111929137G>T - - MERTK_000164 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ buccal cells targeted resequencing using MIPs library prep, 108-gene panel retinal disease 549 Tracewska 2021, MolVis in press brother M no Poland Slavic - - yes - 1 LOVD
+/. 2 c.92_98del r.(?) p.(Pro31Argfs*31) - Both (homozygous) - pathogenic (recessive) g.112686727_112686733del g.111929150_111929156del 91_97del - MERTK_000003 - PubMed: Wang 2014a - - Germline - - - - - DNA SEQ-NG-I - - RP - PubMed: Wang 2014a - - - (United States) - - - - - 1 Feng Wang
?/. - c.98C>T r.(?) p.(Pro33Leu) - Both (homozygous) ACMG VUS g.112686733C>T - - - MERTK_000143 - PubMed: Al-Bdour 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Fam3 PubMed: Al-Bdour 2020 5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Jordan - - - - - 3 Johan den Dunnen
+/. - c.98del r.(?) p.(Pro33Argfs*31) - Unknown - pathogenic g.112686733del g.111929156del c.98del, p.(Pro33Argfs*31) - MERTK_000176 compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13658 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
-?/. - c.102A>G r.(?) p.(Leu34=) - Unknown - likely benign g.112686737A>G g.111929160A>G MERTK(NM_006343.2):c.102A>G (p.L34=), MERTK(NM_006343.3):c.102A>G (p.L34=) - MERTK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.102A>G r.(?) p.(Leu34=) - Unknown - benign g.112686737A>G g.111929160A>G MERTK(NM_006343.2):c.102A>G (p.L34=), MERTK(NM_006343.3):c.102A>G (p.L34=) - MERTK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.107C>T r.(?) p.(Pro36Leu) - Unknown - likely benign g.112686742C>T g.111929165C>T MERTK(NM_006343.2):c.107C>T (p.P36L), MERTK(NM_006343.3):c.107C>T (p.P36L) - MERTK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.107C>T r.(?) p.(Pro36Leu) - Unknown - likely benign g.112686742C>T - MERTK(NM_006343.2):c.107C>T (p.P36L), MERTK(NM_006343.3):c.107C>T (p.P36L) - MERTK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.224del r.(?) p.(Thr75Lysfs*4) - Both (homozygous) - pathogenic g.112686859del g.111929282del - - MERTK_000106 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236083 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.225del r.(?) p.(Gly76Glufs*3) N-terminus fragment Parent #1 - pathogenic g.112686860del g.111929283del - - MERTK_000047 - PubMed: Oishi 2014 - rs527236083 Germline - - - - - DNA SEQ - - retinal disease K6484 PubMed: Oishi 2014 - - - Japan - - - - - 1 Isabelle Audo
+/. - c.225del r.(?) p.(Gly76GlufsTer3) - Both (homozygous) - pathogenic g.112686860del g.111929283del 225delA - MERTK_000047 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6151 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+/. - c.225del r.(?) p.(Gly76GlufsTer3) - Parent #1 - pathogenic g.112686860del g.111929283del 225delA - MERTK_000047 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6488 PubMed: Oishi 2014 simplex case - - Japan - - - - - 1 LOVD
+?/. 4 c.225del r.(?) p.(Pro76Glnfs*3) - Unknown - likely pathogenic (recessive) g.112686860del - c.225delA - MERTK_000047 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 2 c.225delA r.(?) p.(Gly76Glufs*3) - Both (homozygous) ACMG likely pathogenic g.111929283del g.111929283del MERTK c.225delA, p.Thr75Thrfs4, homozygous - MERTK_000191 error in annotation: c.225delA causes p.(Gly76GlufsTer3), and not p.(Thr75Thrfs4) PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 12 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
-?/. - c.231C>T r.(?) p.(Asn77=) - Unknown - likely benign g.112686866C>T - MERTK(NM_006343.3):c.231C>T (p.N77=) - MERTK_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.263C>T r.(?) p.(Ala88Val) - Unknown - likely pathogenic g.112686898C>T - c.263C>T p.(Ser88Leu) - MERTK_000195 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 15000307 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 5 c.263C>T r.(?) p.(Ala88Val) - Unknown - likely pathogenic g.112686898C>T - c.263C>T p.(Ser88Leu) - MERTK_000195 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 15006709 PubMed: Ellingford 2017, PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.276G>A r.(?) p.(Pro92=) - Unknown - likely benign g.112686911G>A - MERTK(NM_006343.2):c.276G>A (p.P92=) - MERTK_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.296_297del r.(?) p.(Thr99Serfs*8) - Both (homozygous) - likely pathogenic g.112686931_112686932del g.111929354_111929355del 296_297delCA - MERTK_000154 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease RP-010 PubMed: Huang 2017 patient - - China - - - - - 1 LOVD
+?/. - c.296_297del r.(?) p.(Thr99Serfs*8) - Both (homozygous) - likely pathogenic g.112686931_112686932del g.111929354_111929355del c.291_292delAC - MERTK_000154 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP022 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. 2 c.296_297del r.(?) p.(Thr99Serfs*8) - Both (homozygous) ACMG pathogenic g.112686931_112686932del g.111929354_111929355del NM_006343.2:c.296_297del, NP_006334.2:p.(Thr99SerfsTer8), NC_000002.11:g.112686931_112686932del - MERTK_000154 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016120508 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. 5 c.296_297del r.(?) p.(Val100Alafs*13) - Both (homozygous) - likely pathogenic (recessive) g.112686931_112686932del - c.296_297delCA - MERTK_000154 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 5 c.296_297del r.(?) p.(Val100Alafs*13) - Both (homozygous) - likely pathogenic (recessive) g.112686931_112686932del - c.296_297delCA - MERTK_000154 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 5 c.296_297del r.(?) p.(Val100Alafs*13) - Unknown - likely pathogenic (recessive) g.112686931_112686932del - c.291_292delAC - MERTK_000154 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. - c.296_297del r.(?) p.(Thr99Serfs*8) - Unknown ACMG pathogenic g.112686931_112686932del g.111929354_111929355del MERTK c.296_297del(;)499C>G, V1: c.296_297delCA, (p.Thr99SerfsTer8) - MERTK_000154 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F070 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.296_297del r.(?) p.(Thr99Serfs*8) - Unknown ACMG pathogenic g.112686931_112686932del g.111929354_111929355del MERTK c.296_297del(;)1988_1989insAT, V2: c.296_297delCA, (p.Thr99SerfsTer8) - MERTK_000154 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F285 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.296_297delCA r.(?) p.(Thr99SerfsTer8) - Unknown - pathogenic g.112686931_112686932del g.111929354_111929355del MERTK c.296_297del(;)499C>G; p.(Thr99SerfsTer8) - MERTK_000154 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: delAC:0.000330; GnomAD_exome_East: 0.000109; GnomAD_All: 0.0000119 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F070 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.296_297delCA r.(?) p.(Thr99SerfsTer8) - Unknown - pathogenic g.112686931_112686932del g.111929354_111929355del MERTK c.296_297del(;)1988_1989insAT; p.(Thr99SerfsTer8) - MERTK_000154 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.000330; GnomAD_exome_East: 0.000109; GnomAD_All: 0.0000119 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F285 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. 2 c.308_309del r.(?) p.(Ile103Asnfs*4) Ig-like C2 type I Both (homozygous) - pathogenic g.112686943_112686944del g.111929366_111929367del - - MERTK_000048 - PubMed: Yang 2018 - - Germline - - - - - DNA SEQ - - retinal disease ? PubMed: Yang 2018 - - - China - - - - - 1 Isabelle Audo
+/. 2 c.325A>T r.(?) p.(Lys109*) Ig-like C2 type I Both (homozygous) - pathogenic g.112686960A>T g.111929383A>T - - MERTK_000049 - PubMed: Patel 2016 - rs786205533 Germline - - - - - DNA SEQ - - retinal disease 12DG0949 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 Isabelle Audo
+/. 2 c.343T>G r.(?) p.(Cys115Gly) Ig-like C2 type I Parent #1 - pathogenic g.112686978T>G g.111929401T>G - - MERTK_000050 no variant found 2nd chromosome;A lign GVGD class C65; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue PubMed: Tada 2006 - - Germline - - - - - DNA SEQ - - retinal disease ? PubMed: Tada 2006 - - - Japan - - - - - 1 Isabelle Audo
+/. - c.343T>G r.(?) p.(Cys115Gly) - Unknown - pathogenic g.112686978T>G g.111929401T>G - - MERTK_000050 - 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
?/. 6 c.343T>G r.(?) p.(Cys115Gly) - Parent #1 - VUS g.112686978T>G - c.343T>G - MERTK_000050 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. 2 c.345C>G r.(?) p.(Cys115Trp) Ig-like C2 type I Parent #2 - VUS g.112686980C>G g.111929403C>G - - MERTK_000051 - PubMed: Wang 2014b - rs772421550 Germline - - - - - DNA SEQ - - retinal disease 21 PubMed: Wang 2014b - F - United States - - - - - 1 Johan den Dunnen
+/. 2 c.345C>G r.(?) p.(Cys115Trp) Ig-like C2 type I Parent #2 - pathogenic g.112686980C>G g.111929403C>G - - MERTK_000051 Align GVGD class C65; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue Khan 2018 - rs772421550 Germline - - - - - DNA SEQ - - ? ? Khan 2017 - - - United Kingdom (Great Britain) - - - - - 2 Isabelle Audo
+/. 2 c.345C>G r.(?) p.(Cys115Trp) Ig-like C2 type I Parent #2 - pathogenic g.112686980C>G g.111929403C>G - - MERTK_000051 Align GVGD class C65; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue PubMed: Eisenberger 2013 - rs772421550 Germline - - - - - DNA SEQ - - retinal disease ? PubMed: Eisenberger 2013 - - - Germany - - - - - 1 Isabelle Audo
+/. 2 c.345C>G r.(?) p.(Cys115Trp) Ig-like C2 type I Parent #2 - pathogenic g.112686980C>G g.111929403C>G - - MERTK_000051 putative compound hetetorzygous;A lign GVGD class C65; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue PubMed: Audo 2018 - rs772421550 Germline - - - - - DNA SEQ - - retinal disease ? PubMed: Audo 2018 - - - France - - - - - 1 Isabelle Audo
+?/. - c.345C>G r.(?) p.(Cys115Trp) - Unknown - likely pathogenic g.112686980C>G g.111929403C>G MERTK(NM_006343.3):c.345C>G (p.C115W) - MERTK_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.345C>G r.(?) p.(Cys115Trp) - Parent #1 - pathogenic (recessive) g.112686980C>G g.111929403C>G - - MERTK_000051 - PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat31 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
+?/. - c.345C>G r.(?) p.(Cys115Trp) - Both (homozygous) - likely pathogenic g.112686980C>G g.111929403C>G - - MERTK_000051 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 44 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.345C>G r.(?) p.(Cys115Trp) - Parent #1 - pathogenic g.112686980C>G g.111929403C>G - - MERTK_000051 - PubMed: Khan 2017 - - Germline - - - - - DNA SEQ-NG - 105-gene panel retinal disease 3259 PubMed: Khan 2017 see paper - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 2 c.345C>G r.(?) p.(Cys115Trp) - Unknown ACMG likely pathogenic g.112686980C>G g.111929403C>G - - MERTK_000051 - Tracewska 2021, MolVis in press - - Germline - 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 261 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+?/. 2 c.345C>G r.(?) p.(Cys115Trp) - Maternal (confirmed) ACMG likely pathogenic g.112686980C>G g.111929403C>G - - MERTK_000051 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 307 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 2 LOVD
+?/. 2 c.345C>G r.(?) p.(Cys115Trp) - Maternal (confirmed) ACMG likely pathogenic g.112686980C>G g.111929403C>G - - MERTK_000051 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ buccal cells targeted resequencing using MIPs library prep, 108-gene panel retinal disease 549 Tracewska 2021, MolVis in press brother M no Poland Slavic - - yes - 1 LOVD
+/. 6 c.345C>G r.(?) p.(Ser115Arg) - Unknown - pathogenic g.112686980C>G - c.345C>G - MERTK_000051 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M no Germany - - - - - 1 LOVD
+?/. - c.345C>G r.(?) p.(Cys115Trp) - Both (homozygous) ACMG likely pathogenic g.112686980C>G g.111929403C>G MERTK c.345C>G, p.(Cys115Trp), c.345C>G, p.(Cys115Trp) - MERTK_000051 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 151 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.346_349delTCAA r.(?) p.(Ile117Valfs*39) - Parent #2 ACMG pathogenic g.112686984_112686987del g.111929407_111929410del MERTK NM_006343: g.30926_30929delTCAA, c.346_349delTCAA, p.I117Vfs39 - MERTK_000179 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted next-generation sequencing/Sanger sequencing retinal disease 19312 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
-/. - c.353G>A r.(?) p.(Ser118Asn) - Unknown - benign g.112686988G>A g.111929411G>A MERTK(NM_006343.3):c.353G>A (p.S118N) - MERTK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.353G>A r.(?) p.(Ser118Asn) - Unknown - benign g.112686988G>A g.111929411G>A - - MERTK_000009 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs13027171 Germline - 229/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 229 Yoshito Koyanagi
-/. - c.353G>A r.(?) p.(Ser118Asn) - Both (homozygous) - benign g.112686988G>A g.111929411G>A - - MERTK_000009 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs13027171 Germline - 16/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 16 Yoshito Koyanagi
+/. 2 c.369C>G r.(?) p.(Tyr123*) - Parent #2 - pathogenic (recessive) g.112687004C>G g.111929427C>G - - MERTK_000146 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat114 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
+?/. 2 c.369C>G r.(?) p.(Tyr123*) - Unknown - likely pathogenic g.112687004C>G g.111929427C>G MERTK Deletion of exons 2-19 c.369C>G, p.? p.Tyr123* - MERTK_000146 hemizygous (apparent homozygosity because of lack of second sequence on the other allele PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 136 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+/. 2 c.370C>T r.(?) p.(Gln124*) Ig-like C2 type I Parent #2 - pathogenic g.112687005C>T g.111929428C>T - - MERTK_000052 - PubMed: Oishi 2014 - rs527236134 Germline - - - - - DNA SEQ - - retinal disease K6484 PubMed: Oishi 2014 - - - Japan - - - - - 1 Isabelle Audo
+/. 2 c.390G>A r.(?) p.(Trp130*) - Both (homozygous) - pathogenic (recessive) g.112687025G>A g.111929448G>A - - MERTK_000002 - PubMed: Wang 2014a - - Germline - - - - - DNA SEQ-NG-I - - RP - PubMed: Wang 2014a - - - (United States) - - - - - 1 Feng Wang
+/. 2 c.390G>A r.(?) p.(Trp130*) Ig-like C2 type I Parent #1 - pathogenic g.112687025G>A g.111929448G>A - - MERTK_000002 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ - - retinal disease 5VR+W.92 PubMed: Ge 2015 simplex case - - United States America-N - - - - 1 Isabelle Audo
+?/. 2 c.390G>A r.(?) p.(Trp130*) - Both (homozygous) - likely pathogenic g.112687025G>A g.111929448G>A c.390G>A, p.(Trp130*) - MERTK_000002 Homozygous PubMed: Tayebi 2019 - - Germline yes - - - - DNA SEQ-NG-I blood 108-gene panel targeted resequencing using MIPs library prep retinal disease 066882 PubMed: Tayebi 2019 - - - Iran - - - - - 1 LOVD
?/. - c.390G>A r.(?) p.(Trp130*) - Unknown - VUS g.112687025G>A g.111929448G>A MERTK nucleotide 1, protein 1:c.390G>A, p.Trp130* nucleotide 2, protein 2:c.1605-2A>G, p.? - MERTK_000002 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 75 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+/. 6 c.392G>A r.(?) p.(Gly131Asp) - Both (homozygous) - pathogenic g.112687027G>A - c.392G>A - MERTK_000200 - PubMed: Salmaninejad-202 - - Unknown - - - - - DNA SEQ-NG, arraySNP, PCR, SEQ blood WES retinal disease - PubMed: Salmaninejad-202 - - yes - Iranian - - - - 1 LOVD
+?/. 6 c.392G>A r.(?) p.(Trp131*) - Both (homozygous) - likely pathogenic g.112687027G>A - c.392G>A - MERTK_000200 - PubMed: Liu 2018 - - De novo - - - - - DNA SEQ-NG, SEQ, PCR - - retinal disease - PubMed: Liu 2018 novel M no - Chinese - - - - 1 LOVD
?/. - c.436C>G r.(?) p.(Gln146Glu) - Unknown ACMG VUS g.112687071C>G g.111929494C>G MERTK:NM_006343 c.C436G, p.Q146E - MERTK_000189 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-179 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.436C>T r.(?) p.(Gln146Ter) - Both (homozygous) ACMG likely pathogenic (recessive) g.112687071C>T g.111929494C>T - - MERTK_000224 ACMG PVS1, PM2 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamGPatIV2 PubMed: Basharat 2024 5-generation family, 6 affected (2F, 4M) M yes Pakistan - - - - - 6 Rabia Basharat
+?/. - c.436C>T r.(?) p.(Gln146Ter) - Both (homozygous) ACMG likely pathogenic (recessive) g.112687071C>T g.111929494C>T - - MERTK_000224 ACMG PVS1, PM2 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamGPatIV3 PubMed: Basharat 2024 brother M yes Pakistan - - - - - 1 Rabia Basharat
+?/. - c.436C>T r.(?) p.(Gln146Ter) - Both (homozygous) ACMG likely pathogenic (recessive) g.112687071C>T g.111929494C>T - - MERTK_000224 ACMG PVS1, PM2 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamGPatIV4 PubMed: Basharat 2024 brother M yes Pakistan - - - - - 1 Rabia Basharat
+?/. - c.436C>T r.(?) p.(Gln146Ter) - Both (homozygous) ACMG likely pathogenic (recessive) g.112687071C>T g.111929494C>T - - MERTK_000224 ACMG PVS1, PM2 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamGPatIV6 PubMed: Basharat 2024 sister F yes Pakistan - - - - - 1 Rabia Basharat
+?/. - c.436C>T r.(?) p.(Gln146Ter) - Both (homozygous) ACMG likely pathogenic (recessive) g.112687071C>T g.111929494C>T - - MERTK_000224 ACMG PVS1, PM2 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamGPatV4 PubMed: Basharat 2024 relative M yes Pakistan - - - - - 1 Rabia Basharat
+?/. - c.436_437del r.(?) p.(Gln146Valfs*5) - Parent #2 - likely pathogenic g.112687071_112687072del g.111929494_111929495del 433_434delAC - MERTK_000155 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 819 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.436_437del r.(?) p.(Gln146Valfs*5) - Unknown - likely pathogenic g.112687071_112687072del g.111929494_111929495del c.436_437delCA - MERTK_000155 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
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