Full data view for gene CRX

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000554.4 transcript reference sequence.

314 entries on 4 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.(-109-?)_(*3358+?)del r.? p.(0) Both (homozygous) - pathogenic g.? - c.(-109-?)_(*3358+?)del - NPHS1_000138 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+?/. - c.-35-1771_101-707del r.0? p.0? Parent #1 ACMG likely pathogenic g.48335895_48338793del g.47832638_47835536del - - CRX_000133 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CD-633 PubMed: Weisschuh 2024 patient F - Germany - - - - - 1 Johan den Dunnen
+?/. 1i_2i c.(-36+1_-1)_(100+1_101-1)del r.0? p.0? Parent #1 ACMG likely pathogenic g.(48325268_48337700)_(48337801_48339499)del - - - CRX_000137 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071795 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.(?_-1)_(*1_?)dup r.(?) p.(?) Unknown ACMG VUS g.? g.? CRX c.(?_-1)_(*1_?)dup, CACNA1F c.2237A>C, p.(Asn746Thr) - NPHS1_000138 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 399 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.? r.(?) p.? Parent #1 - pathogenic (dominant) g.? - AF024711:238A>C, GAG?GCG CRX Glu80Ala - NPHS1_000138 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. - c.? r.(?) p.? Parent #1 - pathogenic (dominant) g.? - AF024711:238A>C, GAG?GCG CRX Glu80Ala - NPHS1_000138 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex3-4 - NPHS1_000138 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM3-10396 PubMed: Jones 2017 relative M - United States - - - - - 1 LOVD
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex3-4 - NPHS1_000138 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM3-10398 PubMed: Jones 2017 relative F - United States - - - - - 1 LOVD
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex3-4 - NPHS1_000138 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM3-5250 PubMed: Jones 2017 5-generation family, 11 affected (5F, 6M) F - United States - - - - - 11 LOVD
+/. - c.? r.? p.? Unknown - pathogenic g.? - del ex3-4 - NPHS1_000138 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM3-10397 PubMed: Jones 2017 relative F - United States - - - - - 1 LOVD
+?/. - c.? r.? p.? Unknown - likely pathogenic g.? - del ex3-4 - NPHS1_000138 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 292 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - 258X - NPHS1_000138 - PubMed: Shanks 2013 - - Germline - - - - - DNA SEQ-NG, PCR - - retinal disease - PubMed: Shanks-2013 novel. 3 affected siblings for mutation. - - - - - - - - 1 LOVD
?/. - c.? r.spl p.(?) Unknown - VUS g.48337416_48343898del - CRX chr19:48337416_48343898del - NPHS1_000138 het deletion of all coding exons (2-4), gene can lead to dominant RP or ar LCA, unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, PCRq blood - retinal disease OGI656_001332 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.? r.? p.? Maternal (confirmed) ACMG likely pathogenic (dominant) g.48309247_48350581del - - - NPHS1_000138 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ADRP-287 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+?/. - c.? r.? p.? Unknown ACMG likely pathogenic (dominant) g.48340644_48406926del - - - NPHS1_000138 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CD-621 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+?/. - c.? r.? p.? Unknown ACMG likely pathogenic (dominant) g.48340644_48406926del - - - NPHS1_000138 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-427 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
?/. - c.8C>T r.(?) p.(Ala3Val) Unknown - VUS g.48337708C>T g.47834451C>T - - CRX_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8C>T r.(?) p.(Ala3Val) Unknown - VUS g.48337708C>T g.47834451C>T - - CRX_000009 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs762715327 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.24dup r.(?) p.(Pro9Alafs*62) Parent #1 - likely pathogenic g.48337724dup g.47834467dup P9ins1bp het CRX - CRX_000124 single heterozygous PubMed: Dharmaraj 2000 - - Germline ? - - - - DNA SEQ - - retinal disease 10 PubMed: Dharmaraj 2000 - ? no Canada American - - - - 1 LOVD
-?/. - c.28C>G r.(?) p.(His10Asp) Unknown - likely benign g.48337728C>G g.47834471C>G CRX(NM_000554.5):c.28C>G (p.H10D) - CRX_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.28C>G r.(?) p.(His10Asp) Unknown ACMG VUS g.48337728C>G g.47834471C>G CRX c.28C>G, p.(His10Asp) - CRX_000022 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 401 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
-?/. 1 c.28C>T r.(?) p.(His10Tyr) Parent #1 - likely benign g.48337728C>T - AF024711:28C>T (CAC?GAC) His10Asp - CRX_000039 - PubMed: Sohocki 2001 - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37G>C r.(?) p.(Val13Leu) Unknown - likely benign g.48337737G>C g.47834480G>C CRX(NM_000554.4):c.37G>C (p.(Val13Leu)) - CRX_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.100+1G>C r.spl p.? Unknown - VUS g.48337801G>C g.47834544G>C - - CRX_000062 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13009064 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. p.(?) c.100+2T>C r.spl p.? Unknown ACMG pathogenic g.48337802T>C g.47834545T>C c.100+2T>C, p.? - CRX_000098 heterozygous PubMed: Nasser 2019 - - Germline - - - - - DNA SEQ-NG blood 105 retinal dystrophy-associated genes retinal disease 3 PubMed: Nasser 2019 - M - Germany - - - - - 1 LOVD
+?/. - c.100+2T>C r.spl p.(?) Parent #1 - likely pathogenic g.48337802T>C g.47834545T>C CRX, variant 1: c.100+2T>C/p.? - CRX_000098 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 779 PubMed: Weisschuh 2020 Filing key number: 302, Stargardt Disease, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 2i_4_ c.101-582_*121592del r.0? p.0? Unknown ACMG pathogenic g.48338919_48464817del g.47835662_47961560del - - CRX_000004 - PubMed: de Castro-Miró 2016 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - retinal disease 10NCE1 PubMed: de Castro-Miró 2016 - M no Spain - - - - - 1 Marta de Castro-Miró
+?/. _3_4_ c.101-284_*2305del r.spl p.(?) Unknown - likely pathogenic g.48339216_48345529del g.47835959_47842272del - - CRX_000084 - PubMed: Martin-Merida 2018 - - Germline ? 1/258 - - - DNA MLPA - +arrayCGH, SEQ-NG retinal disease RP-1092 PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. _3_4_ c.101-155_*4131del r.spl p.(?) Unknown - likely pathogenic g.48339345_48347355del g.47836088_47844098del - - CRX_000085 - PubMed: Martin-Merida 2018 - - Germline ? 1/258 - - - DNA MLPA - +arrayCGH, SEQ-NG retinal disease RP-1192 PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+/. - c.101-1G>A r.spl? p.? Unknown - pathogenic g.48339499G>A g.47836242G>A CRX(NM_000554.5):c.101-1G>A - CRX_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.101-1G>A r.spl p.? Parent #1 - pathogenic (dominant) g.48339499G>A g.47836242G>A - - CRX_000005 - - - - De novo yes - - - - DNA SEQ-NG blood Targeted gene panel LCA - - - M - - - 31y - - - 1 Jinu Han
+/. - c.101-1G>A r.spl p.? Parent #1 ACMG pathogenic (recessive) g.48339499G>A g.47836242G>A c.101-1G>A:p.? - CRX_000005 compound heterozygous PubMed: Surl 2020, PubMed: Moon 2021 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 11;Pat13 PubMed: Surl 2020, PubMed: Moon 2021 - M - Korea - - - - - 1 LOVD
+?/. - c.(100+1_101-1)_(*1097_?)del Unable to predict p.? Unknown - likely pathogenic g.? - del ex3-4: c.(100+1_101-1)_(*1097_?)del - NPHS1_000138 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat33 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+/. - c.(100+1_101-1)_(*1097_?)del r.? p.? Parent #1 - pathogenic g.? - (100+1_101-1)_(*1097_?)del - NPHS1_000138 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 522 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
+?/. - c.118C>T r.(?) p.(Arg40Trp) Unknown - likely pathogenic g.48339517C>T g.47836260C>T - - CRX_000048 - PubMed: Maeda 2018 - rs749738655 Germline - - - - - DNA SEQ, SEQ-NG - 39-gene panel retinal disease Pat32 PubMed: Maeda 2018 family M - Japan - - - - - 1 LOVD
+?/. 1 c.118C>T r.(?) p.(Arg40Trp) Unknown - likely pathogenic g.48339517C>T - c.118C>T - CRX_000048 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 3 c.118C>T r.(?) p.(Arg40Trp) Maternal (confirmed) - likely pathogenic g.48339517C>T g.47836260C>T CRX c.118C>T, p.R40W - CRX_000048 Heterozygous PubMed: Fujinami-Yokokawa 2020 - - Germline yes - - - - DNA SEQ-NG blood whole exome sequencing retinal disease Patient 1 (1-III:1) PubMed: Fujinami-Yokokawa 2020 Family 1, Patient 1 (1-III:1), TMC-001- 001, NISO-NTMC072-KA072 M - Japan Asian - - - - 1 LOVD
+?/. 3 c.118C>T r.(?) p.(Arg40Trp) Unknown - likely pathogenic g.48339517C>T g.47836260C>T CRX c.118C>T, p.R40W - CRX_000048 Heterozygous PubMed: Fujinami-Yokokawa 2020 - - Germline yes - - - - DNA SEQ-NG blood whole exome sequencing retinal disease Patient 2 (1-II:3) PubMed: Fujinami-Yokokawa 2020 Family 1, Patient 2 (1-II:3), TMC-001- 002, NISO-NTMC072-KA205 F - Japan Asian - - - - 1 LOVD
+?/. 3 c.118C>T r.(?) p.(Arg40Trp) Maternal (confirmed) - likely pathogenic g.48339517C>T g.47836260C>T CRX c.118C>T, p.R40W - CRX_000048 Heterozygous PubMed: Fujinami-Yokokawa 2020 - - Germline yes - - - - DNA SEQ-NG blood whole exome sequencing retinal disease Patient 3 (2-II:1) PubMed: Fujinami-Yokokawa 2020 Family 2, Patient 3 (2-II:1), JU-001-001, JIKEI-079JIKEI-JU0743 F - Japan Asian - - - - 1 LOVD
+?/. 3 c.118C>T r.(?) p.(Arg40Trp) Unknown - likely pathogenic g.48339517C>T g.47836260C>T CRX c.118C>T, p.R40W - CRX_000048 Heterozygous PubMed: Fujinami-Yokokawa 2020 - - Germline yes - - - - DNA SEQ-NG blood whole exome sequencing retinal disease Patient 4 (2-I:2) PubMed: Fujinami-Yokokawa 2020 Family 2, Patient 4 (2-I:2), JU-001-002, JIKEI-079JIKEI-JU1738 F - Japan Asian - - - - 1 LOVD
+?/. 3 c.118C>T r.(?) p.(Arg40Trp) Unknown - likely pathogenic g.48339517C>T g.47836260C>T CRX c.118C>T, p.R40W - CRX_000048 Heterozygous PubMed: Fujinami-Yokokawa 2020 - - Unknown ? - - - - DNA SEQ-NG blood whole exome sequencing retinal disease Patient 5 (3-II:2) PubMed: Fujinami-Yokokawa 2020 Family 3, Patient 5 (3-II:2), KDU-001- 001, KINKI-034-1104 F - Japan Asian - - - - 1 LOVD
+/. 3 c.118C>T r.(?) p.(Arg40Trp) Parent #1 ACMG pathogenic g.48339517C>T g.47836260C>T - - CRX_000048 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072278 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.119G>A r.(?) p.(Arg40Gln) Unknown - pathogenic (dominant) g.48339518G>A - 19:48339518G>A ENST00000221996.7:c.119G>A (Arg40Gln) - CRX_000045 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000147 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.119G>A r.(?) p.(Arg40Gln) Unknown - likely pathogenic g.48339518G>A g.47836261G>A CRX c.119G>A, p.Arg40Gln - CRX_000045 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000147 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.121C>T r.(?) p.(Arg41Trp) Unknown - likely pathogenic g.48339520C>T g.47836263C>T CRX(NM_000554.6):c.121C>T (p.R41W) - CRX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.121C>T r.(?) p.(Arg41Trp) Unknown - pathogenic g.48339520C>T g.47836263C>T CRX(NM_000554.6):c.121C>T (p.R41W) - CRX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.121C>T r.(?) p.(Arg41Trp) Unknown - pathogenic g.48339520C>T g.47836263C>T - - CRX_000006 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs104894672 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
+?/. 3 c.121C>T r.(?) p.(Arg41Trp) Unknown - likely pathogenic g.48339520C>T g.47836263C>T - - CRX_000006 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - rs104894672 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC3750 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.121C>T r.(?) p.(Arg41Trp) Unknown - likely pathogenic g.48339520C>T g.47836263C>T - - CRX_000006 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13010981 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.121C>T r.(?) p.(Arg41Trp) Parent #1 - likely pathogenic (dominant) g.48339520C>T g.47836263C>T - - CRX_000006 - PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT139 PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.121C>T r.(?) p.(Arg41Trp) Parent #1 - likely pathogenic g.48339520C>T g.47836263C>T - - CRX_000006 - PubMed: Oishi 2016 - rs104894672 Germline - - - - - DNA SEQ-NG - gene panel retinal disease K6343 PubMed: Oishi 2016 3-generation family, 1 affected M - Japan - - - - - 1 LOVD
+?/. - c.121C>T r.(?) p.(Arg41Trp) Unknown ACMG VUS g.48339520C>T - - - CRX_000006 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OCMD IR_GS_0153 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
?/. 1 c.121C>T r.(?) p.(Arg41Trp) Unknown - VUS g.48339520C>T - p.R41W - CRX_000006 - PubMed: Matsui 2015 - - Germline - - - - - DNA PE - - retinal disease - PubMed: Matsui 2015 - M - United States - - - - - 1 LOVD
+?/. 3 c.121C>T r.(?) p.(Arg41Trp) Paternal (inferred) - likely pathogenic g.48339520C>T g.47836263C>T CRX c.121C>T, p.R41W - CRX_000006 Heterozygous PubMed: Fujinami-Yokokawa 2020 - - Germline yes - - - - DNA SEQ-NG blood whole exome sequencing retinal disease Patient 6 (4-III:2) PubMed: Fujinami-Yokokawa 2020 Family 4, Patient 6 (4-III:2), NU-001-001, NAGOYA-Nagoya085-Nagoya0085 M - Japan Asian - - - - 1 LOVD
+?/. 3 c.121C>T r.(?) p.(Arg41Trp) Paternal (confirmed) - likely pathogenic g.48339520C>T g.47836263C>T CRX c.121C>T, p.R41W - CRX_000006 Heterozygous PubMed: Fujinami-Yokokawa 2020 - - Germline yes - - - - DNA SEQ-NG blood whole exome sequencing retinal disease Patient 7 (5-II:1) PubMed: Fujinami-Yokokawa 2020 Family 5, Patient 7 (5-II:1), JU-002-001, JIKEI-237JIKEI-JU1557 M - Japan Asian - - - - 1 LOVD
+?/. 3 c.121C>T r.(?) p.(Arg41Trp) Unknown - likely pathogenic g.48339520C>T g.47836263C>T CRX c.121C>T, p.R41W - CRX_000006 Heterozygous PubMed: Fujinami-Yokokawa 2020 - - Germline yes - - - - DNA SEQ-NG blood whole exome sequencing retinal disease Patient 8 (5-I:1) PubMed: Fujinami-Yokokawa 2020 Family 5, Patient 8 (5-I:1), JU-002-002, JIKEI-237JIKEI-JU1558 M - Japan Asian - - - - 1 LOVD
+/. 1 c.121C>T r.(?) p.(Arg41Trp) Unknown - pathogenic g.48339520C>T - c.121C>T - CRX_000006 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 1 c.121C>T r.(?) p.(Arg41Trp) Unknown - pathogenic g.48339520C>T - c.121C>T - CRX_000006 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 1 c.121C>T r.(?) p.(Arg41Trp) Unknown - pathogenic g.48339520C>T - c.121C>T - CRX_000006 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 3 c.121C>T r.(?) p.(Arg41Trp) Parent #1 ACMG pathogenic g.48339520C>T g.47836263C>T - - CRX_000006 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 070977 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 3 c.121C>T r.(?) p.(Arg41Trp) Parent #1 ACMG pathogenic g.48339520C>T g.47836263C>T - - CRX_000006 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 079861 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+?/. 3 c.122G>A r.(?) p.(Arg41Gln) Parent #2 - pathogenic (dominant) g.48339521G>A g.47836264G>A - - CRX_000030 - - - - De novo yes - - - - DNA SEQ-NG blood Targeted gene panel LCA - - - M - - - 31y - - - 1 Jinu Han
+/. 1 c.122G>A r.(?) p.(Arg41Gln) Parent #1 - pathogenic g.48339521G>A - 122G>A - CRX_000030 - PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 5 Julia Lopez
+?/. 3 c.122G>A r.(?) p.(Arg41Gln) Unknown - likely pathogenic g.48339521G>A g.47836264G>A - - CRX_000030 - PubMed: Martin-Merida 2018 - - Germline ? 1/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+/. 1 c.122G>A r.(?) p.(Arg41Gln) Unknown - pathogenic g.48339521G>A - p.Arg41Gln - CRX_000030 - PubMed: Blanco-Kelly-2012 - - Unknown yes - - - - DNA arraySNP blood adRP genotyping microarray retinal disease - PubMed: Blanco-Kelly-2012 - - - Spain spanish - - - - 1 LOVD
+?/. 1 c.122G>A r.(?) p.(Arg41Gln) Unknown - likely pathogenic g.48339521G>A - c.122G>A - CRX_000030 - PubMed: Eisenberger-2013 - rs61748436 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M no Germany - - - - - 1 LOVD
+/. 3 c.122G>A r.(?) p.(Arg41Gln) Unknown ACMG pathogenic g.48339521G>A g.47836264G>A c.122G>A, p.Arg41Gln - CRX_000030 Heterozygous PubMed: Birtel 2018 - rs61748436 Germline yes - - - - DNA SEQ-NG blood - retinal disease 63 PubMed: Birtel 2018 - M - Germany - - - - - 1 LOVD
+/. - c.122G>A r.(?) p.(Arg41Gln) Parent #2 ACMG pathogenic (recessive) g.48339521G>A g.47836264G>A - - CRX_000030 compound heterozygous PubMed: Surl 2020, PubMed: Moon 2021 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 11;Pat13 PubMed: Surl 2020, PubMed: Moon 2021 - M - Korea - - - - - 1 LOVD
+?/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - likely pathogenic g.48339521G>A g.47836264G>A CRX c.122G>A - CRX_000030 homozygous; heterozygous family members normal phenotype; no protein annotation in paper PubMed: Chapi 2019 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease IV:4 PubMed: Chapi 2019 family A, proband's brother M yes Iran - - - - - 1 LOVD
+?/. - c.122G>A r.(?) p.(Arg41Gln) Unknown ACMG likely pathogenic (dominant) g.48339521G>A g.47836264G>A - - CRX_000030 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? CD-419 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.122G>A r.(?) p.(Arg41Gln) Unknown - likely pathogenic g.48339521G>A - - - CRX_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.122G>C r.(?) p.(Arg41Pro) Parent #1 ACMG likely pathogenic g.48339521G>C g.47836264G>C - - CRX_000127 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070657 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.122G>C r.(?) p.(Arg41Pro) Parent #1 ACMG likely pathogenic g.48339521G>C g.47836264G>C - - CRX_000127 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070583 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.122G>C r.(?) p.(Arg41Pro) Unknown - VUS g.48339521G>C - - - CRX_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.124G>A r.(?) p.(Glu42Lys) Unknown ACMG pathogenic g.48339523G>A g.47836266G>A c.124G>A - CRX_000086 heterozygous, causative variant PubMed: Hosono 2018 - - Germline no - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease EYE70 PubMed: Hosono 2018 proband, family EYE70 F no Japan Asian - - - - 1 LOVD
+/. 1 c.124G>A r.(?) p.(Glu42Lys) Unknown - pathogenic g.48339523G>A - 124G>A - CRX_000086 - PubMed: li 2011 - - Germline - 1/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - M no China Chinese - - - - 1 LOVD
+/. - c.124G>A r.(?) p.(Glu42Lys) Parent #1 ACMG pathogenic g.48339523G>A g.47836266G>A CRX NM_000554: g.16821G>A, c.124G>A, p.E42K - CRX_000086 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ - Sanger sequencing retinal disease 67230 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
?/. - c.127C>T r.(?) p.(Arg43Cys) Unknown - VUS g.48339526C>T g.47836269C>T - - CRX_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.127C>T r.(?) p.(Arg43Cys) Parent #1 - likely pathogenic (dominant) g.48339526C>T g.47836269C>T - - CRX_000010 - PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT1272 PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.127C>T r.(?) p.(Arg43Cys) Unknown ACMG likely pathogenic g.48339526C>T g.47836269C>T CRX c.127C>T, p.(Arg43Cys) - CRX_000010 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 105 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 1 c.127C>T r.(?) p.(Arg43Cys) Unknown - likely pathogenic (recessive) g.48339526C>T - c.127C>T - CRX_000010 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 3 c.127C>T r.(?) p.(Arg43Cys) Maternal (inferred) - likely pathogenic g.48339526C>T g.47836269C>T CRX c.127C>T, p.R43C - CRX_000010 Heterozygous PubMed: Fujinami-Yokokawa 2020 - - Germline yes - - - - DNA SEQ-NG blood whole exome sequencing retinal disease Patient 9 (6-III:1) PubMed: Fujinami-Yokokawa 2020 Family 6, Patient 9 (6-III:1), KDU-002- 001, KINKI-003-4 F - Japan Asian - - - - 1 LOVD
+?/. 3 c.127C>T r.(?) p.(Arg43Cys) Maternal (inferred) - likely pathogenic g.48339526C>T g.47836269C>T CRX c.127C>T, p.R43C - CRX_000010 Heterozygous PubMed: Fujinami-Yokokawa 2020 - - Germline yes - - - - DNA SEQ-NG blood whole exome sequencing retinal disease Patient 10 (6-III:2) PubMed: Fujinami-Yokokawa 2020 Family 6, Patient 10 (6-III:2), KDU-002- 002, KINKI-003-3 M - Japan Asian - - - - 1 LOVD
+?/. 3 c.128G>A r.(?) p.(Arg43His) Paternal (confirmed) - likely pathogenic g.48339527G>A g.47836270G>A CRX c.128G>A, p.R43H - CRX_000114 Heterozygous PubMed: Fujinami-Yokokawa 2020 - - Germline yes - - - - DNA SEQ-NG blood whole exome sequencing retinal disease Patient 11 (7-III:3) PubMed: Fujinami-Yokokawa 2020 Family 7, Patient 11 (7-III:3), TMC-002- 001, NISO-NTMC233-KA233 M - Japan Asian - - - - 1 LOVD
+?/. 3 c.128G>A r.(?) p.(Arg43His) Paternal (inferred) - likely pathogenic g.48339527G>A g.47836270G>A CRX c.128G>A, p.R43H - CRX_000114 Heterozygous PubMed: Fujinami-Yokokawa 2020 - - Germline yes - - - - DNA SEQ-NG blood whole exome sequencing retinal disease Patient 12 (7-II:2) PubMed: Fujinami-Yokokawa 2020 Family 7, Patient 12 (7-II:2), TMC-002- 002, NISO-NTMC233-KA259 M - Japan Asian - - - - 1 LOVD
+/. 3 c.128G>A r.(?) p.(Arg43His) Parent #1 ACMG pathogenic g.48339527G>A g.47836270G>A - - CRX_000114 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067284 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 3 c.128G>A r.(?) p.(Arg43His) Parent #1 ACMG pathogenic g.48339527G>A g.47836270G>A - - CRX_000114 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074711 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.142C>T r.(?) p.(Arg48Trp) Unknown - VUS g.48339541C>T g.47836284C>T - - CRX_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.159del r.(?) p.(Glu53Aspfs*22) Parent #1 - pathogenic (dominant) g.48339558del g.47836301del - - CRX_000049 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat173 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. 3 c.159del r.(?) p.(Glu53Aspfs*22) Unknown - likely pathogenic g.48339558del g.47836301del CRX c.159del, p.Glu53Aspfs*22 - CRX_000049 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 120 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. 3 c.161T>G r.(?) p.(Leu54Arg) Parent #1 ACMG likely pathogenic g.48339560T>G g.47836303T>G - - CRX_000138 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067176 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.181A>C r.(?) p.(Thr61Pro) Unknown - VUS g.48339580A>C - CRX(NM_000554.5):c.181A>C (p.T61P) - CRX_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.193G>C r.(?) p.(Asp65His) Both (homozygous) - pathogenic g.48339592G>C g.47836335G>C - - CRX_000081 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6116 PubMed: Oishi 2014 simplex case - - Japan - - - - - 1 LOVD
+/. - c.193G>C r.(?) p.(Asp65His) Parent #1 - pathogenic g.48339592G>C g.47836335G>C - - CRX_000081 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6419 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+/. 1 c.193G>C r.(?) p.(Asp65His) Both (homozygous) - pathogenic g.48339592G>C - - - CRX_000081 - PubMed: Jin 2008 - - Unknown - - - - - DNA DHPLC blood - retinal disease - PubMed: Jin 2008 - - - Japan - - - - - 1 LOVD
+?/. 3 c.193G>C r.(?) p.(Asp65His) Both (homozygous) - likely pathogenic g.48339592G>C g.47836335G>C CRX c.193G>C, p.D65H - CRX_000081 Homozygous PubMed: Fujinami-Yokokawa 2020 - - Unknown ? - - - - DNA SEQ-NG blood whole exome sequencing retinal disease Patient 13 (8-II:2) PubMed: Fujinami-Yokokawa 2020 Family 8, Patient 13 (8-II:2), TMC-003- 001, NISO-NTMC049-KA049 F - Japan Asian - - - - 1 LOVD
+?/. 3 c.193G>C r.(?) p.(Asp65His) Both (homozygous) - likely pathogenic g.48339592G>C g.47836335G>C CRX c.193G>C, p.D65H - CRX_000081 Homozygous PubMed: Fujinami-Yokokawa 2020 - - Germline yes - - - - DNA SEQ-NG blood whole exome sequencing retinal disease Patient 14 (9-II:4) PubMed: Fujinami-Yokokawa 2020 Family 9, Patient 14 (9-II:4), KDU-003- 001, KINKI-020-1058 M - Japan Asian - - - - 1 LOVD
?/. 3 c.196G>A r.(?) p.(Val66Ile) Parent #1 - VUS g.48339595G>A g.47836338G>A - - CRX_000001 predicted unknown effect on function, present at significant fraction in Exome Variant Server PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-?/. - c.196G>A r.(?) p.(Val66Ile) Unknown - likely benign g.48339595G>A g.47836338G>A CRX(NM_000554.5):c.196G>A (p.V66I), CRX(NM_000554.6):c.196G>A (p.V66I) - CRX_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196G>A r.(?) p.(Val66Ile) Unknown - likely benign g.48339595G>A g.47836338G>A CRX(NM_000554.5):c.196G>A (p.V66I), CRX(NM_000554.6):c.196G>A (p.V66I) - CRX_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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