Full data view for gene OPN1LW

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_020061.4 transcript reference sequence.

97 entries on 1 page. Showing entries 1 - 97.
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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

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+/. - c.9_OPN1MW_578+271del46217 r.? p.? Unknown ACMG pathogenic g.153409766_153455983del - c.9_OPN1MW_578+271del46217 - OPN1LW_000044 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
./. - c.-698952_*185505dup r.0? p.0? Maternal (confirmed) - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - - - - 2 Johan den Dunnen
+/. - c.? r.? p.(Val249_Gln328del) Unknown ACMG pathogenic g.? - NM_020061.5:c.745_984del - USP9X_000005 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.? r.? p.? Parent #1 ACMG pathogenic g.? - OPN1LW: c.[552G>A;573A>G;579T>G] - USP9X_000005 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.? r.? p.? Parent #1 ACMG pathogenic g.? - OPN1LW: c.[552G>A;573A>G] - USP9X_000005 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.? r.? p.? Parent #1 ACMG pathogenic g.? - OPN1LW: c.[573A>G;579T>G]; OPN1MW: c.[562C>T;573A>G;579T>G] - USP9X_000005 - PubMed: Sharon 2019 - - Germline - 6/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 6 IRD families - - Israel - - - - - 6 Global Variome, with Curator vacancy
+/. - c.? r.0 p.0 Parent #1 ACMG pathogenic g.? - OPN1LW del - USP9X_000005 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.? r.0 p.0 Parent #1 ACMG pathogenic g.? - OPN1LW del - USP9X_000005 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.? r.? p.? Maternal (inferred) ACMG likely pathogenic (recessive) g.153400836_153408770del - - - USP9X_000005 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? BCM-342 PubMed: Weisschuh 2024 patient M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.? r.? p.? Unknown ACMG likely pathogenic (recessive) g.153400711_153414443del - - - USP9X_000005 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? BCM-379 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
-?/. - c.5C>T r.(?) p.(Ala2Val) Unknown - likely benign g.153409762C>T - OPN1LW(NM_020061.4):c.5C>T (p.(Ala2Val)) - OPN1LW_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.31G>C r.(?) p.(Ala11Pro) Unknown - likely benign g.153409788G>C g.154144314G>C OPN1LW(NM_020061.5):c.31G>C (p.A11P) - OPN1LW_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.44C>T r.(?) p.(Pro15Leu) Unknown - likely benign g.153409801C>T - OPN1LW(NM_020061.5):c.44C>T (p.P15L) - OPN1LW_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.113-19C>G r.(=) p.(=) Unknown - benign g.153416109C>G g.154150637C>G OPN1LW(NM_020061.6):c.113-19C>G - OPN1LW_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141C>T r.(?) p.(Ile47=) Unknown - likely benign g.153416156C>T - OPN1LW(NM_020061.5):c.141C>T (p.I47=) - OPN1LW_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194C>T r.(?) p.(Thr65Ile) Unknown - VUS g.153416209C>T g.154150737C>T OPN1LW(NM_020061.4):c.194C>T (p.(Thr65Ile)), OPN1LW(NM_020061.5):c.194C>T (p.T65I), OPN1LW(NM_020061.6):c.194C>T (p.T65I) - OPN1LW_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.194C>T r.(?) p.(Thr65Ile) Unknown - benign g.153416209C>T g.154150737C>T OPN1LW(NM_020061.4):c.194C>T (p.(Thr65Ile)), OPN1LW(NM_020061.5):c.194C>T (p.T65I), OPN1LW(NM_020061.6):c.194C>T (p.T65I) - OPN1LW_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194C>T r.(?) p.(Thr65Ile) Unknown - likely benign g.153416209C>T - OPN1LW(NM_020061.4):c.194C>T (p.(Thr65Ile)), OPN1LW(NM_020061.5):c.194C>T (p.T65I), OPN1LW(NM_020061.6):c.194C>T (p.T65I) - OPN1LW_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201C>T r.(?) p.(Ser67=) Unknown - likely benign g.153416216C>T g.154150744C>T OPN1LW(NM_020061.5):c.201C>T (p.S67=) - OPN1LW_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.265A>G r.(?) p.(Asn89Asp) Unknown - VUS g.153416280A>G - - - OPN1LW_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.268T>C r.(?) p.(Trp90Arg) Unknown - VUS g.153416283T>C - - - OPN1LW_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301G>C r.(?) p.(Ala101Pro) Unknown - VUS g.153416316G>C g.154150844G>C OPN1LW(NM_020061.5):c.301G>C (p.A101P) - OPN1LW_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301G>C r.(?) p.(Ala101Pro) Unknown - VUS g.153416316G>C - OPN1LW(NM_020061.5):c.301G>C (p.A101P) - OPN1LW_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.304G>A r.(?) p.(Glu102Lys) Parent #1 ACMG VUS g.153416319G>A g.154150847G>A - - OPN1LW_000059 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073793 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
-?/. - c.331A>G r.(?) p.(Ile111Val) Unknown - likely benign g.153416346A>G g.154150874A>G OPN1LW(NM_020061.4):c.331A>G (p.(Ile111Val)) - OPN1LW_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.347C>A r.(?) p.(Ser116Tyr) Unknown - benign g.153416362C>A g.154150890C>A OPN1LW(NM_020061.4):c.347C>A (p.(Ser116Tyr)), OPN1LW(NM_020061.5):c.347C>A (p.S116Y), OPN1LW(NM_020061.6):c.347C>A (p.S116Y) - OPN1LW_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347C>A r.(?) p.(Ser116Tyr) Unknown - VUS g.153416362C>A g.154150890C>A OPN1LW(NM_020061.4):c.347C>A (p.(Ser116Tyr)), OPN1LW(NM_020061.5):c.347C>A (p.S116Y), OPN1LW(NM_020061.6):c.347C>A (p.S116Y) - OPN1LW_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.347C>A r.(?) p.(Ser116Tyr) Unknown - likely benign g.153416362C>A g.154150890C>A OPN1LW(NM_020061.4):c.347C>A (p.(Ser116Tyr)), OPN1LW(NM_020061.5):c.347C>A (p.S116Y), OPN1LW(NM_020061.6):c.347C>A (p.S116Y) - OPN1LW_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.347C>G r.(?) p.(Ser116Cys) Unknown - likely benign g.153416362C>G g.154150890C>G - - OPN1LW_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.358G>A r.(?) p.(Val120Met) Unknown ACMG likely pathogenic g.153453504G>A - OPN1MW del; c.358G>A - OPN1LW_000045 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
?/. - c.358G>A r.(?) p.(Val120Met) Unknown - VUS g.153416373G>A - OPN1LW(NM_020061.6):c.358G>A (p.V120M) - OPN1LW_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.409+113A>C r.(=) p.(=) Maternal (inferred) - VUS g.153416537A>C g.154151065= - - OPN1LW_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.427_433dup r.(?) p.(Ala145ValfsTer23) Unknown - pathogenic g.153418430_153418436dup g.154152957_154152963dup OPN1LW(NM_020061.5):c.427_433dupTCTCTGG (p.A145Vfs*23) - OPN1LW_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.434C>G r.(?) p.(Ala145Gly) Unknown - VUS g.153418437C>G - - - OPN1LW_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.466T>C r.(?) p.(Cys156Arg) Unknown - VUS g.153418469T>C - - - OPN1LW_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483T>C r.(?) p.(Asn161=) Unknown - likely benign g.153418486T>C g.154153013T>C OPN1LW(NM_020061.5):c.483T>C (p.N161=) - OPN1LW_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488G>T r.(?) p.(Arg163Ile) Unknown - VUS g.153418491G>T g.154153018G>T OPN1LW(NM_020061.4):c.488G>T (p.(Arg163Ile)), OPN1LW(NM_020061.5):c.488G>T (p.R163I) - OPN1LW_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488G>T r.(?) p.(Arg163Ile) Unknown - VUS g.153418491G>T g.154153018G>T OPN1LW(NM_020061.4):c.488G>T (p.(Arg163Ile)), OPN1LW(NM_020061.5):c.488G>T (p.R163I) - OPN1LW_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.496G>T r.(?) p.(Ala166Ser) Unknown - likely benign g.153418499G>T g.154153026G>T OPN1LW(NM_020061.4):c.496G>T (p.(Ala166Ser)), OPN1LW(NM_020061.5):c.496G>T (p.A166S) - OPN1LW_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496G>T r.(?) p.(Ala166Ser) Unknown - VUS g.153418499G>T - OPN1LW(NM_020061.4):c.496G>T (p.(Ala166Ser)), OPN1LW(NM_020061.5):c.496G>T (p.A166S) - OPN1LW_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496G>T r.(?) p.(Ala166Ser) Unknown - VUS g.153418499G>T - OPN1LW(NM_020061.4):c.496G>T (p.(Ala166Ser)), OPN1LW(NM_020061.5):c.496G>T (p.A166S) - OPN1LW_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.511G>A r.(?) p.(Val171Met) Unknown - pathogenic g.153418514G>A g.154153041G>A - - OPN1LW_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.511_513delinsATT r.(?) p.(Val171Ile) Unknown - pathogenic g.153418514_153418516delinsATT g.154153041_154153043delinsATT - - OPN1LW_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.513G>T r.(?) p.(Val171=) Unknown - pathogenic g.153418516G>T g.154153043G>T - - OPN1LW_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.521C>T r.(?) p.(Ala174Val) Unknown - pathogenic g.153418524C>T g.154153051C>T - - OPN1LW_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.532A>G r.(?) p.(Ile178Val) Unknown - pathogenic g.153418535A>G g.154153062A>G - - OPN1LW_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.532A>G r.(?) p.(Ile178Val) Maternal (inferred) ACMG benign g.153418535A>G g.154153062A>G - - OPN1LW_000035 ACMG BS1, BS2, BP4, BP6_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? BCM-308-1 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
-/. - c.532A>G r.(?) p.(Ile178Val) Maternal (inferred) ACMG benign g.153418535A>G g.154153062A>G - - OPN1LW_000035 ACMG BS1, BS2, BP4, BP6_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? BCM-308-2 PubMed: Weisschuh 2024 relative M - Germany - - - - - 1 Johan den Dunnen
-/. - c.532A>G r.(?) p.(Ile178Val) Maternal (inferred) ACMG benign g.153418535A>G g.154153062A>G - - OPN1LW_000035 ACMG BS1, BS2, BP4, BP6_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? BCM-346 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
-/. - c.532A>G r.(?) p.(Ile178Val) Maternal (confirmed) ACMG benign g.153418535A>G g.154153062A>G - - OPN1LW_000035 ACMG BS1, BS2, BP4, BP6_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-408 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. - c.538T>G r.(?) p.(Ser180Ala) Maternal (inferred) - VUS g.153418541T>G g.154153068= - - OPN1LW_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.538T>G r.(?) p.(Ser180Ala) Maternal (inferred) - VUS g.153418541T>G g.154153068= - - OPN1LW_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.538T>G r.(?) p.(Ser180Ala) Unknown - likely benign g.153418541T>G g.154153068= OPN1LW(NM_020061.6):c.538T>G (p.S180A) - OPN1LW_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.538T>G r.(?) p.(Ser180Ala) Unknown - benign g.153418541T>G g.154153068= OPN1LW(NM_020061.6):c.538T>G (p.S180A) - OPN1LW_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.538T>G r.(?) p.(Ser180Ala) Maternal (inferred) - VUS g.153418541T>G g.154153068= - - OPN1LW_000001 - - - - Germline - - - - - DNA SEQ - - ? 3(III4) personal communication 3-generation family, 2 affected cousins, cousin of 4(III8) M - - - - - - - 2 Jacopo Celli
?/. 3 c.538T>G r.(?) p.(Ser180Ala) Maternal (inferred) - VUS g.153418541T>G g.154153068= - - OPN1LW_000001 - - - - Germline - - - - - DNA SEQ - - ? 4(III8) personal communication Cousin of 3(III4) M - - - - - - - 1 Jacopo Celli
?/. - c.538T>G r.(?) p.(Ser180Ala) Unknown - VUS g.153418541T>G - OPN1LW(NM_020061.6):c.538T>G (p.S180A) - OPN1LW_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.538T>G r.(?) p.(Ser180Ala) Maternal (inferred) ACMG benign g.153418541T>G g.154153068= - - OPN1LW_000001 ACMG BA1, BS2, BP6 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? BCM-308-1 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
-/. - c.538T>G r.(?) p.(Ser180Ala) Maternal (inferred) ACMG benign g.153418541T>G g.154153068= - - OPN1LW_000001 ACMG BA1, BS2, BP6 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? BCM-308-2 PubMed: Weisschuh 2024 relative M - Germany - - - - - 1 Johan den Dunnen
-/. - c.538T>G r.(?) p.(Ser180Ala) Maternal (inferred) ACMG benign g.153418541T>G g.154153068= - - OPN1LW_000001 ACMG BA1, BS2, BP6 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? BCM-346 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
-/. - c.538T>G r.(?) p.(Ser180Ala) Maternal (confirmed) ACMG benign g.153418541T>G g.154153068= - - OPN1LW_000001 ACMG BA1, BS2, BP6 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-408 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. - c.579-290G>T r.(=) p.(=) Maternal (inferred) - VUS g.153419759G>T g.154154284= - - OPN1LW_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.607T>C r.(?) p.(Cys203Arg) Unknown - pathogenic g.153420077T>C g.154154602T>C - - OPN1LW_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.607T>C r.(?) p.(Cys203Arg) Maternal (inferred) - VUS g.153420077T>C g.154154602T>C OPN1LW nucleotide 1, protein 1:c.607T>C, p.Cys203Arg nucleotide 2, protein 2:-, - OPN1LW_000023 hemizygous, 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 81 PubMed: Hull 2020 - - - New Zealand white - - - - 1 LOVD
+?/. - c.607T>C r.(?) p.(Cys203Arg) Maternal (inferred) ACMG likely pathogenic (recessive) g.153420077T>C g.154154602T>C - - OPN1LW_000023 ACMG PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? BCM-323 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
+?/. - c.607T>C r.(?) p.(Cys203Arg) Maternal (inferred) ACMG likely pathogenic (recessive) g.153420077T>C g.154154602T>C - - OPN1LW_000023 ACMG PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? BCM-354 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
+?/. - c.607T>C r.(?) p.(Cys203Arg) Unknown ACMG likely pathogenic (recessive) g.153420077T>C g.154154602T>C - - OPN1LW_000023 ACMG PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? BCM-371 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. 4 c.609C>A r.(?) p.(Cys203Ter) Parent #1 ACMG likely pathogenic g.153420079C>A g.154154604C>A - - OPN1LW_000060 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 070703 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
-?/. - c.642C>T r.(?) p.(Pro214=) Unknown - likely benign g.153420112C>T - OPN1LW(NM_020061.5):c.642C>T (p.P214=) - OPN1LW_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.689T>C r.(?) p.(Ile230Thr) Unknown - benign g.153420159T>C g.154154684T>C OPN1LW(NM_020061.6):c.689T>C (p.I230T) - OPN1LW_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.706A>C r.(?) p.(Met236Leu) Unknown - VUS g.153420176A>C g.154154701A>C OPN1LW(NM_020061.5):c.706A>C (p.M236L) - OPN1LW_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.706A>G r.(?) p.(Met236Val) Unknown - benign g.153420176A>G g.154154701A>G OPN1LW(NM_020061.6):c.706A>G (p.M236V) - OPN1LW_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.711C>G r.(?) p.(Leu237=) Unknown - likely benign g.153420181C>G - OPN1LW(NM_020061.5):c.711C>G (p.L237=) - OPN1LW_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.719T>G r.(?) p.(Leu240Arg) Unknown - VUS g.153420189T>G g.154154714T>G - - OPN1LW_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.728G>T r.(?) p.(Trp243Leu) Unknown - VUS g.153420198G>T g.154154723G>T OPN1LW(NM_020061.5):c.728G>T (p.W243L) - OPN1LW_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.730C>G r.(?) p.(Leu244Val) Unknown - VUS g.153420200C>G g.154154725C>G OPN1LW(NM_020061.5):c.730C>G (p.L244V) - OPN1LW_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.739C>T r.(?) p.(Arg247Ter) Unknown - pathogenic g.153420209C>T g.154154734C>T - - OPN1LW_000047 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-556-1135 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. - c.802_804delinsG r.(?) p.(Arg268AspfsTer74) Unknown - pathogenic g.153421826_153421828delinsG g.154156351_154156353delinsG - - OPN1LW_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.814G>A r.(?) p.(Val272Met) Unknown - VUS g.153421838G>A g.154156363G>A OPN1LW(NM_020061.5):c.814G>A (p.V272M) - OPN1LW_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.827C>A r.(?) p.(Ala276Glu) Unknown - VUS g.153421851C>A g.154156376C>A - - OPN1LW_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.849C>A r.(?) p.(Pro283=) Unknown - likely benign g.153421873C>A g.154156398C>A - - OPN1LW_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.852C>A r.(?) p.(Tyr284Ter) Unknown - pathogenic g.153421876C>A g.154156401C>A OPN1LW(NM_020061.6):c.852C>A (p.Y284*) - OPN1LW_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.852C>A r.(?) p.(Tyr284Ter) Unknown - pathogenic g.153421876C>A - OPN1LW(NM_020061.6):c.852C>A (p.Y284*) - OPN1LW_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.852C>T r.(?) p.(Tyr284=) Unknown - likely benign g.153421876C>T g.154156401C>T - - OPN1LW_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.853A>G r.(?) p.(Thr285Ala) Unknown - likely benign g.153421877A>G - OPN1LW(NM_020061.5):c.853A>G (p.T285A) - OPN1LW_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.862G>A r.(?) p.(Ala288Thr) Unknown - VUS g.153421886G>A g.154156411G>A - - OPN1LW_000046 0/933 control chromosomes PubMed: Xu 2015 - - Germline - 1/205 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP383 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+/. - c.891C>G r.(?) p.(Tyr297Ter) Unknown - pathogenic g.153421915C>G g.154156440C>G OPN1LW(NM_020061.5):c.891C>G (p.Y297*) - OPN1LW_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.891C>G r.(?) p.(Tyr297Ter) Unknown - pathogenic g.153421915C>G - OPN1LW(NM_020061.5):c.891C>G (p.Y297*) - OPN1LW_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.892G>C r.(?) p.(Ala298Pro) Unknown - VUS g.153421916G>C g.154156441G>C - - OPN1LW_000016 0/933 control chromosomes PubMed: Xu 2015 - - Germline - 1/205 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP266 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.892G>C r.(?) p.(Ala298Pro) Unknown - VUS g.153421916G>C - OPN1LW(NM_020061.5):c.892G>C (p.A298P) - OPN1LW_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.914C>T r.(?) p.(Ala305Val) Parent #1 ACMG VUS g.153421938C>T g.154156463C>T - - OPN1LW_000061 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy DNA18-17689 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.920C>T r.(?) p.(Pro307Leu) Unknown - VUS g.153421944C>T g.154156469C>T OPN1LW(NM_020061.5):c.920C>T (p.P307L) - OPN1LW_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.921G>A r.(?) p.(Pro307=) Unknown - VUS g.153421945G>A - - - OPN1LW_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.926A>T r.(?) p.(Tyr309Phe) Unknown - likely benign g.153421950A>T g.154156475A>T OPN1LW(NM_020061.5):c.926A>T (p.Y309F) - OPN1LW_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.928T>A r.(?) p.(Phe310Ile) Unknown - VUS g.153421952T>A - OPN1LW(NM_020061.5):c.928T>A (p.F310I) - OPN1LW_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.957C>T r.(?) p.(Pro319=) Unknown - benign g.153421981C>T g.154156506C>T OPN1LW(NM_020061.5):c.957C>T (p.P319=), OPN1LW(NM_020061.6):c.957C>T (p.P319=) - OPN1LW_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.957C>T r.(?) p.(Pro319=) Unknown - likely benign g.153421981C>T g.154156506C>T OPN1LW(NM_020061.5):c.957C>T (p.P319=), OPN1LW(NM_020061.6):c.957C>T (p.P319=) - OPN1LW_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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