Full data view for gene ROM1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000327.3 transcript reference sequence.

151 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.(?_-541)_(*281_?)dup r.0 p.0 Unknown ACMG likely pathogenic g.? g.? Duplication of ROM1 - DRD4_000002 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-271 PubMed: Rodriguez-Munoz 2020 family fRPN-140, family member M - Spain - - - - - 1 LOVD
+?/. - c.(?_-541)_(*281_?)dup r.0 p.0 Unknown ACMG likely pathogenic g.? g.? ROM1:NM_000327 ROM1 dup, p.? - DRD4_000002 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-297 PubMed: Rodriguez-Munoz 2020 family fRPN-140, proband F - Spain - - - - - 1 LOVD
+?/. - c.(?_-541)_(*281_?)dup r.0 p.0 Unknown ACMG likely pathogenic g.? g.? Duplication of ROM1 - DRD4_000002 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-461 PubMed: Rodriguez-Munoz 2020 family fRPN-AP, proband F - Spain - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic (dominant) g.62382123del - g.62382123C>_* - B3GAT3_000024 - PubMed: Anasagasti-2013 - - Germline yes - - - - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - - - - 1 LOVD
?/. 1 c.1del r.? p.(?) Unknown - VUS g.62380754del - c.1del - ROM1_000042 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.47G>A r.(?) p.(Arg16His) Unknown - VUS g.62380800G>A g.62613328G>A - - ROM1_000014 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs143166696 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.47G>A r.(?) p.(Arg16His) Unknown - VUS g.62380800G>A g.62613328G>A - - ROM1_000014 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case27419 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
?/. - c.64T>G r.(?) p.(Trp22Gly) Unknown ACMG VUS g.62380817T>G g.62613345T>G - - ROM1_000043 ACMG PP3, PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-467 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.64T>G r.(?) p.(Trp22Gly) Unknown - VUS g.62380817T>G - ROM1(NM_000327.4):c.64T>G (p.(Trp22Gly)) - ROM1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.70C>T r.(?) p.(Leu24Phe) Unknown - VUS g.62380823C>T g.62613351C>T - - ROM1_000029 - PubMed: Xu 2014 - - Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP200 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.70C>T r.(?) p.(Leu24Phe) Unknown - VUS g.62380823C>T g.62613351C>T - - ROM1_000029 - PubMed: Xu 2014 - - Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP201 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
?/. - c.70C>T r.(?) p.(Leu24Phe) Unknown - VUS g.62380823C>T g.62613351C>T - - ROM1_000029 - PubMed: Xu 2014 - - Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP319 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-/. - c.81G>T r.(?) p.(Leu27=) Unknown - benign g.62380834G>T g.62613362G>T ROM1(NM_000327.3):c.81G>T (p.L27=), ROM1(NM_000327.4):c.81G>T (p.L27=) - ROM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.81G>T r.(?) p.(Leu27=) Unknown - likely benign g.62380834G>T - ROM1(NM_000327.3):c.81G>T (p.L27=), ROM1(NM_000327.4):c.81G>T (p.L27=) - ROM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.98G>A r.(?) p.(Gly33Asp) Unknown - VUS g.62380851G>A g.62613379G>A - - B3GAT3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.117T>G r.(?) p.(Ser39Arg) Unknown - likely pathogenic g.62380870T>G g.62613398T>G - - ROM1_000023 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease RP-111 PubMed: Huang 2017 family - - China - - - - - 1 LOVD
+?/. - c.128T>G r.(?) p.(Leu43Arg) Parent #1 - likely pathogenic g.62380881T>G g.62613409T>G - - ROM1_000028 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - DNA SEQ-NG - WES retinal disease HM384 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
-?/. - c.178C>A r.(?) p.(Pro60Thr) Unknown - likely benign g.62380931C>A g.62613459C>A ROM1(NM_000327.3):c.178C>A (p.P60T) - ROM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.178C>A r.(?) p.(Pro60Thr) Parent #1 - pathogenic g.62380931C>A g.62613459C>A - - ROM1_000004 - PubMed: Bernardis 2016 - - Germline - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD016 PubMed: Bernardis 2016 - - Italy - - - - - 1 LOVD
+?/. 1 c.178C>A r.(?) p.(Pro60Thr) Unknown - likely pathogenic g.62380931C>A - c.178C>A - ROM1_000004 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
?/. - c.178C>A r.(?) p.(Pro60Thr) Maternal (confirmed) - VUS g.62380931C>A g.62613459C>A ROM1/c.178C>A(p.Pro60Thr) - ROM1_000004 in cis with c.323C>T (p.Thr108Met) PubMed: Verdina 2021 - - Germline yes - - - - DNA SEQ-NG blood panel of 137 genes associated with retinal dystrophies retinal disease P15 PubMed: Verdina 2021 family T M - Italy - - - - - 1 LOVD
+?/. - c.178C>A r.(?) p.(Pro60Thr) Unknown - likely pathogenic g.62380931C>A g.62613459C>A ROM1 P60T TCC->TCA - ROM1_000004 heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic PubMed: Bascom 1995 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease HS770_I-1 PubMed: Bascom 1995 family 1, proband M - - - - - - - 1 LOVD
+?/. - c.178C>A r.(?) p.(Pro60Thr) Unknown - likely pathogenic g.62380931C>A g.62613459C>A ROM1 P60T TCC->TCA - ROM1_000004 heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic PubMed: Bascom 1995 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease HS770_I-1 PubMed: Bascom 1995 family 1, proband M - - - - - - - 1 LOVD
+?/. - c.178C>A r.(?) p.(Pro60Thr) Unknown - likely pathogenic g.62380931C>A g.62613459C>A ROM1 P60T TCC->TCA - ROM1_000004 heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic PubMed: Martinez-Mir 1997 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease V-8_I-2 PubMed: Martinez-Mir 1997 family V-8, proband's mother; consanguinity between parents, husband from the same small village, but the pattern of inheritance resembles autosomal dominant, brother affected but deseased, DNA not available F likely Spain Spanish - - - - 1 LOVD
+?/. - c.178C>A r.(?) p.(Pro60Thr) Maternal (confirmed) - likely pathogenic g.62380931C>A g.62613459C>A ROM1 P60T TCC->TCA - ROM1_000004 heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic PubMed: Martinez-Mir 1997 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease V-8_II-4 PubMed: Martinez-Mir 1997 family V-8, proband; consanguinity between grandparents, parents from the same small village, but the pattern of inheritance resembles autosomal dominant; mother's brother affected but deseased, DNA not available F likely Spain Spanish - - - - 1 LOVD
+?/. - c.178C>A r.(?) p.(Pro60Thr) Maternal (confirmed) - likely pathogenic g.62380931C>A g.62613459C>A ROM1 P60T TCC->TCA - ROM1_000004 heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic PubMed: Martinez-Mir 1997 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease V-8_II-5 PubMed: Martinez-Mir 1997 family V-8, proband's sister; consanguinity between grandparents, parents from the same small village, but the pattern of inheritance resembles autosomal dominant; mother's brother affected but deseased, DNA not available F likely Spain Spanish - - - - 1 LOVD
+?/. - c.224G>A r.(?) p.(Gly75Asp) Unknown - likely pathogenic g.62380977G>A g.62613505G>A ROM1 G75D - ROM1_000038 heterozygous PubMed: Bascom 1995 - - Unknown yes - - - - DNA SSCA, SEQ blood - retinal disease 86-1_II-2 PubMed: Bascom 1995 proband F - - - - - - - 1 LOVD
?/. - c.230G>T r.(?) p.(Gly77Val) Both (homozygous) - VUS g.62380983G>T g.62613511G>T - - ROM1_000015 - 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
+/. 1 c.236_237insG r.(?) p.(Val81Cysfs*51) Unknown - pathogenic g.62380989_62380990insG - c.236_237insG - ROM1_000032 - PubMed: Wang-2014 - - Germline - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
?/? 1 c.239dup r.(?) p.(Val81Cysfs*51) Unknown - VUS g.62380992dup g.62613520dup - - ROM1_000001 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+?/. - c.320del r.(?) p.(Gly107Alafs*15) Parent #1 ACMG likely pathogenic g.62381073del g.62613601del - - ROM1_000041 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070594 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - 1 Rebekkah Hitti-Malin
-?/. - c.323C>T r.(?) p.(Thr108Met) Unknown - likely benign g.62381076C>T g.62613604C>T ROM1(NM_000327.3):c.323C>T (p.T108M) - ROM1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.323C>T r.(?) p.(Thr108Met) Parent #2 - pathogenic g.62381076C>T g.62613604C>T - - ROM1_000005 - PubMed: Bernardis 2016 - - Germline - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD016 PubMed: Bernardis 2016 - - Italy - - - - - 1 LOVD
+?/. 1 c.323C>T r.(?) p.(Thr108Met) Unknown - likely pathogenic g.62381076C>T - c.323C>T - ROM1_000005 - PubMed: Eisenberger-2013 - rs146358003 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
?/. - c.323C>T r.(?) p.(Thr108Met) Maternal (confirmed) - VUS g.62381076C>T g.62613604C>T ROM1/c.323C>T (p.Thr108Met) - ROM1_000005 in cis with c.178C>A (p.Pro60Thr) PubMed: Verdina 2021 - - Germline yes - - - - DNA SEQ-NG blood panel of 137 genes associated with retinal dystrophies retinal disease P15 PubMed: Verdina 2021 family T M - Italy - - - - - 1 LOVD
+?/. - c.323C>T r.(?) p.(Thr108Met) Paternal (confirmed) - likely pathogenic g.62381076C>T g.62613604C>T ROM1 T108M ACG->ATG - ROM1_000005 heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic PubMed: Bascom 1995 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease HS770_II-1 PubMed: Bascom 1995 family 1, proband's father M - - - - - - - 1 LOVD
+?/. - c.323C>T r.(?) p.(Thr108Met) Paternal (confirmed) - likely pathogenic g.62381076C>T g.62613604C>T ROM1 T108M ACG->ATG - ROM1_000005 heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic PubMed: Bascom 1995 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease HS770_II-1 PubMed: Bascom 1995 family 1, proband's father M - - - - - - - 1 LOVD
+?/. - c.323C>T r.(?) p.(Thr108Met) Unknown - likely pathogenic g.62381076C>T g.62613604C>T ROM1 T108M ACG->ATG - ROM1_000005 heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic PubMed: Martinez-Mir 1997 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease V-8_I-2 PubMed: Martinez-Mir 1997 family V-8, proband's mother; consanguinity between parents, husband from the same small village, but the pattern of inheritance resembles autosomal dominant, brother affected but deseased, DNA not available F likely Spain Spanish - - - - 1 LOVD
+?/. - c.323C>T r.(?) p.(Thr108Met) Maternal (confirmed) - likely pathogenic g.62381076C>T g.62613604C>T ROM1 T108M ACG->ATG - ROM1_000005 heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic PubMed: Martinez-Mir 1997 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease V-8_II-4 PubMed: Martinez-Mir 1997 family V-8, proband; consanguinity between grandparents, parents from the same small village, but the pattern of inheritance resembles autosomal dominant; mother's brother affected but deseased, DNA not available F likely Spain Spanish - - - - 1 LOVD
+?/. - c.323C>T r.(?) p.(Thr108Met) Maternal (confirmed) - likely pathogenic g.62381076C>T g.62613604C>T ROM1 T108M ACG->ATG - ROM1_000005 heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic PubMed: Martinez-Mir 1997 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease V-8_II-5 PubMed: Martinez-Mir 1997 family V-8, proband's sister; consanguinity between grandparents, parents from the same small village, but the pattern of inheritance resembles autosomal dominant; mother's brother affected but deseased, DNA not available F likely Spain Spanish - - - - 1 LOVD
?/. - c.330dup r.(?) p.(Gly111Trpfs*21) Unknown - VUS g.62381083dup g.62613611dup - - ROM1_000016 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236104 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.337_357del r.(?) p.(Leu115_Leu121del) Unknown - VUS g.62381095_62381115del g.62613623_62613643del c.337_357del21 - ROM1_000021 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP396 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+/. - c.339del r.(?) p.(Leu114SerfsTer8) Unknown - pathogenic g.62381092del g.62613620del ROM1(NM_000327.3):c.339delG (p.L114Sfs*8), ROM1(NM_000327.4):c.339delG (p.L114Sfs*8) - ROM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.339del r.(?) p.(Leu114SerfsTer8) Unknown - VUS g.62381092del g.62613620del ROM1(NM_000327.3):c.339delG (p.L114Sfs*8), ROM1(NM_000327.4):c.339delG (p.L114Sfs*8) - ROM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.339del r.(?) p.(Leu114Serfs*8) Parent #1 - VUS g.62381092del g.62613620del - - ROM1_000006 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC05007 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+/. - c.339del r.(?) p.(Leu114Serfs*8) Unknown - pathogenic g.62381092del - 339delG - ROM1_000006 - PubMed: Essilfie 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease patient PubMed: Essilfie 2018 - F - United States - - - - - 1 Johan den Dunnen
+?/. - c.339del r.(?) p.(Leu114Serfs*8) Unknown - likely pathogenic g.62381092del g.62613620del c.331delG, p.Leu114Serfs*8 - ROM1_000006 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18070017_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. - c.339del r.(?) p.(Leu114Serfs*8) Unknown - likely pathogenic g.62381092del g.62613620del ROM1 L114 del1bp - ROM1_000006 heterozygous PubMed: Bascom 1995 - - Unknown yes - - - - DNA SSCA, SEQ blood - retinal disease 56-1_II-1 PubMed: Bascom 1995 proband M - - - - - - - 1 LOVD
?/. - c.339dup r.(?) p.(Leu114AlafsTer18) Unknown - VUS g.62381092dup g.62613620dup ROM1(NM_000327.3):c.339dupG (p.L114Afs*18), ROM1(NM_000327.4):c.339dupG (p.L114Afs*18) - B3GAT3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.339dup r.(?) p.(Leu114AlafsTer18) Unknown - pathogenic g.62381092dup g.62613620dup ROM1(NM_000327.3):c.339dupG (p.L114Afs*18), ROM1(NM_000327.4):c.339dupG (p.L114Afs*18) - B3GAT3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.339dup r.(?) p.(Leu114Alafs*18) Unknown - likely pathogenic g.62381092dup - 330_331insG - B3GAT3_000011 - PubMed: Jinda 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease RP038 PubMed: Jinda 2014 - M - Thailand - - - - - 1 Johan den Dunnen
+?/. - c.339dup r.(?) p.(Leu114Alafs*18) Unknown - likely pathogenic (recessive) g.62381092dup g.62613620dup 330_331insG - B3GAT3_000011 - PubMed: Jinda 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP038 PubMed: Jinda 2017 patient - - Thailand - - - - - 1 LOVD
+/. 1 c.339dup r.(?) p.(Leu114Alafs*18) Parent #1 - pathogenic g.62381092dup - 339insG - B3GAT3_000011 NA Digenic with RDS Leu185Pro PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 3 Julia Lopez
+/. - c.339dup r.(?) p.(Leu114AlafsTer18) Unknown - pathogenic g.62381092dup g.62613620dup 331dupG - B3GAT3_000011 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6451 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+?/. - c.339dup r.(?) p.(Leu114Alafs*18) Parent #1 ACMG likely pathogenic g.62381092dup g.62613620dup - - B3GAT3_000011 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070604 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.339dup r.(?) p.(Leu114Alafs*18) Unknown ACMG VUS g.62381092dup g.62613620dup ROM1 c.339dup, p.(Leu114Alafs*18) - B3GAT3_000011 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 33_39 PubMed: Zhu 2022 family 33, individual 39 F - - - - - - - 1 LOVD
+?/. 1 c.339dup r.(?) p.(Leu114Alafs*18) Unknown - likely pathogenic g.62381092dup - c.339dup - B3GAT3_000011 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. 1 c.339dup r.(?) p.(Leu114AlafsTer18) Parent #1 ACMG likely pathogenic g.62381092dup g.62613620dup - - B3GAT3_000011 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 079830 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.339dupG r.(?) p.(Leu114Alafs*18) Maternal (confirmed) - likely pathogenic (dominant) g.62381092dup g.62613620dup ROM1 c.330_331insG, (p.L114Afs*18) - B3GAT3_000011 heterozygous PubMed: Xiao 2017 - - Germline no - - - - DNA SEQ-NG, SEQ blood - retinal disease IV:14 PubMed: Xiao 2017 5-generation family, 33 members with 15 affected members, individual IV:14, son of III:6 M - China Chinese - - - - 1 LOVD
+?/. - c.342_362del r.(?) p.(Leu115_Leu121del) Parent #1 - likely pathogenic (dominant) g.62381095_62381115del g.62613623_62613643del - - ROM1_000021 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 690924 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+?/. - c.342_362del r.(?) p.(Leu115_Leu121del) Parent #1 - likely pathogenic (dominant) g.62381095_62381115del g.62613623_62613643del - - ROM1_000021 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 680853 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+?/. 1 c.342_362del r.(?) p.(Leu115_Leu121del) Unknown - likely pathogenic g.62381095_62381115del - c.342_362del - ROM1_000021 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
+?/. 1 c.342_362del r.(?) p.(Leu115_Leu121del) Unknown - likely pathogenic g.62381095_62381115del - c.342_362del - ROM1_000021 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
-?/. - c.351C>T r.(?) p.(Val117=) Unknown - likely benign g.62381104C>T - ROM1(NM_000327.3):c.351C>T (p.V117=) - B3GAT3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.353= r.(=) p.(Ala118=) Unknown - benign g.62381106G>C g.62613634G>C ROM1(NM_000327.4):c.353G>C (p.G118A) - ROM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.353= r.(=) p.(Ala118=) Unknown - benign g.62381106G>C - ROM1(NM_000327.4):c.353G>C (p.G118A) - ROM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.397C>T r.(?) p.(Leu133=) Unknown - likely benign g.62381150C>T - ROM1(NM_000327.3):c.397C>T (p.L133=) - B3GAT3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.422T>C r.(?) p.(Leu141Ser) Unknown - VUS g.62381175T>C g.62613703T>C - - ROM1_000017 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs190642059 Germline - 21/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 21 Yoshito Koyanagi
+/. 1 c.493dup r.(?) p.(Arg165Lysfs*28) Unknown - pathogenic (recessive) g.62381246_62381247insA - c.493_494insA - ROM1_000031 - PubMed: Nishiguchi-2012 - - Unknown - - - - - DNA SEQ blood - Healthy/Control - PubMed: Nishiguchi-2012 - - - - European American - - - - 1 LOVD
?/. - c.508G>A r.(?) p.(Gly170Arg) Unknown - VUS g.62381261G>A g.62613789G>A - - ROM1_000018 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs142496524 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.512G>A r.(?) p.(Arg171His) Unknown - VUS g.62381265G>A g.62613793G>A ROM1(NM_000327.4):c.512G>A (p.R171H) - ROM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.512G>A r.(?) p.(Arg171His) Unknown - VUS g.62381265G>A g.62613793G>A - - ROM1_000008 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs150926409 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.512G>A r.(?) p.(Arg171His) Unknown - VUS g.62381265G>A - - - ROM1_000008 - PubMed: Shah 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Shah 2018 - F - United States white - - - - 1 Johan den Dunnen
-/. - c.571G>A r.(?) p.(Gly191Ser) Unknown - benign g.62381324G>A g.62613852G>A ROM1(NM_000327.4):c.571G>A (p.G191S) - ROM1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.590+5_590+8del r.spl? p.? Unknown ACMG likely pathogenic g.62381348_62381351del g.62613876_62613879del - - ROM1_000045 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 066828 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.605A>T r.(?) p.(Asn202Ile) Unknown - VUS g.62381744A>T g.62614272A>T - - ROM1_000019 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 4/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
?/. - c.629A>T r.(?) p.(Asp210Val) Unknown ACMG VUS g.62381768A>T g.62614296A>T PRPH2,ROM1 c.623G>A, p.(Gly208Asp), ROM1 c.629A>T, p.(Asp210Val), ABCA4 c.6230G>A, p.(Arg2077Gln) - ROM1_000033 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 201 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.629A>T r.(?) p.(Asp210Val) Unknown - VUS g.62381768A>T - ROM1(NM_000327.4):c.629A>T (p.(Asp210Val)) - ROM1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.664C>T r.(?) p.(Pro222Ser) Unknown ACMG VUS g.62381803C>T g.62614331C>T ROM1:NM_000327 c.C664T, p.P222S - ROM1_000036 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-551 PubMed: Rodriguez-Munoz 2020 family fRPN-226, proband M - Spain - - - - - 1 LOVD
+/. - c.667C>T r.(?) p.(Arg223Trp) Unknown - pathogenic (dominant) g.62381806C>T g.62614334C>T - - ROM1_000030 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP053 PubMed: Xu 2014 family F - China - - - - - 1 LOVD
+?/. 2 c.668G>A r.(?) p.(Arg223Gln) Unknown ACMG VUS g.62381807G>A g.62614335G>A - - ROM1_000002 - PubMed: de Castro-Miró 2016 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease 22ORG1 PubMed: de Castro-Miró 2016 - F no Spain - - - - - 1 Marta de Castro-Miró
?/. - c.668G>A r.(?) p.(Arg223Gln) Parent #1 ACMG VUS g.62381807G>A g.62614335G>A - - ROM1_000002 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070227 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.668_669delinsAC r.(?) p.(Arg223His) Unknown - likely pathogenic g.62381807_62381808delinsAC g.62614335_62614336delinsAC p.Arg223His:c.668_669GG/AC (heterozygous, autosomal dominant)x - ROM1_000035 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+/. - c.671C>T r.(?) p.(Pro224Leu) Parent #1 - pathogenic g.62381810C>T g.62614338C>T - - ROM1_000024 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat9 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
?/. - c.671C>T r.(?) p.(Pro224Leu) Unknown ACMG VUS g.62381810C>T g.62614338C>T - - ROM1_000024 ACMG PP3, PM2; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-52 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.685C>T r.(?) p.(Arg229Cys) Unknown ACMG VUS g.62381824C>T g.62614352C>T - - ROM1_000044 ACMG PM2, BP4 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-404 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.686G>A r.(?) p.(Arg229His) Unknown - likely benign g.62381825G>A g.62614353G>A ROM1(NM_000327.3):c.686G>A (p.(Arg229His)), ROM1(NM_000327.4):c.686G>A (p.R229H) - ROM1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.686G>A r.(?) p.(Arg229His) Unknown - likely benign g.62381825G>A g.62614353G>A ROM1(NM_000327.3):c.686G>A (p.(Arg229His)), ROM1(NM_000327.4):c.686G>A (p.R229H) - ROM1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.686G>A r.(?) p.(Arg229His) Parent #1 - benign g.62381825G>A - 686G>A - ROM1_000010 Rare population variant PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
?/. - c.686G>A r.(?) p.(Arg229His) Unknown - VUS g.62381825G>A g.62614353G>A - - ROM1_000010 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case29303 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
?/. 2 c.686G>A r.(?) p.(Arg229His) Unknown - VUS g.62381825G>A - c.686G>A - ROM1_000010 - PubMed: Poloschek-2010 - - Germline - - - - - DNA arraySNP, PCR, SEQ blood - retinal disease 28582 (V-1) {PMID:Poloschek 2010:20335603) Son IV-1, brother V-2, cousin V-4/index case, grand son III-2, familymember III-4, IV-7 M no Germany white - - - - 1 Manon Peeters
?/. 2 c.686G>A r.(?) p.(Arg229His) Unknown - VUS g.62381825G>A - c.686G>A - ROM1_000010 - PubMed: Poloschek-2010 - - Germline - - - - - DNA arraySNP, PCR, SEQ blood - retinal disease 28590 (IV-1) {PMID:Poloschek 2010:20335603) Son III-2, brother index case, father V-1/V-2, uncle V-4, cousin IV-7, family member III-2 M no Germany white - - - - 1 Manon Peeters
?/. 2 c.686G>A r.(?) p.(Arg229His) Unknown - VUS g.62381825G>A - c.686G>A - ROM1_000010 - PubMed: Poloschek-2010 - - Germline - - - - - DNA arraySNP, PCR, SEQ blood - retinal disease 28589 (III-2) {PMID:Poloschek 2010:20335603) Mother IV-1/index case, sister III-4, aunt IV-7, grand mother V-1/V-2/V-7 F no Germany white - - - - 1 Manon Peeters
?/. 2 c.686G>A r.(?) p.(Arg229His) Unknown - VUS g.62381825G>A - c.686G>A - ROM1_000010 - PubMed: Poloschek-2010 - - Germline - - - - - DNA arraySNP, PCR, SEQ blood - retinal disease 28583 (V-4) {PMID:Poloschek 2010:20335603) Daughter index case, niece V-1/V-2/IV-1, grand daughter III-2, family member III-4/IV-7 F no Germany white - - - - 1 Manon Peeters
?/. 2 c.686G>A r.(?) p.(Arg229His) Unknown - VUS g.62381825G>A - c.686G>A - ROM1_000010 - PubMed: Poloschek-2010 - - Germline - - - - - DNA arraySNP, PCR, SEQ blood - retinal disease 26593 (IV-4) {PMID:Poloschek 2010:20335603) index case, mother V-4, aunt V-1/V-2, daughter III-2, sister IV-1, niece IV-7, family member III-4 F no Germany white - - - - 1 Manon Peeters
?/. 2 c.686G>A r.(?) p.(Arg229His) Unknown - VUS g.62381825G>A - c.686G>A - ROM1_000010 - PubMed: Poloschek-2010 - - Germline - - - - - DNA arraySEQ blood - retinal disease - PubMed: Poloschek-2010 - M - Germany German - - - - 1 LOVD
?/. 2 c.686G>A r.(?) p.(Arg229His) Unknown - VUS g.62381825G>A - c.686G>A - ROM1_000010 - PubMed: Poloschek-2010 - - Germline - - - - - DNA arraySEQ blood - retinal disease - PubMed: Poloschek-2010 - F - Germany German - - - - 1 LOVD
-/. 2 c.686G>A r.(?) p.(Arg229His) Unknown - benign g.62381825G>A - c.686G>A - ROM1_000010 - PubMed: Simpson-2011 - - Germline - 0.00% in 360 controls - - - DNA arraySEQ, PCR, SEQ blood - retinal disease - PubMed: Simpson-2011 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
-/. 2 c.702C>T r.(=) p.(=) Parent #1 - benign g.62381841C>T - 702C>T - ROM1_000025 Silent substitution PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
+?/. - c.712del r.(?) p.(Leu238Cysfs*78) Both (homozygous) - pathogenic (recessive) g.62381851del g.62614379del 712delC - ROM1_000013 - - - - Germline - - - - - DNA SEQ-NG-I - WES maculopathy - - - - - - - - - - - 1 Jana Zernant
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