Full data view for gene NRL

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006177.3 transcript reference sequence.

210 entries on 3 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.-19344G>A r.(?) p.(=) Unknown - likely benign g.24573045C>T g.24103836C>T PCK2(NM_001308054.1):c.1393C>T (p.P465S) - DCAF11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-19290C>T r.(?) p.(=) Unknown - benign g.24572991G>A g.24103782G>A PCK2(NM_001308054.1):c.1339G>A (p.A447T) - DCAF11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19222A>G r.(?) p.(=) Unknown - VUS g.24572923T>C g.24103714T>C PCK2(NM_001308054.1):c.1271T>C (p.I424T) - DCAF11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19156C>T r.(?) p.(=) Unknown - VUS g.24572857G>A - PCK2(NM_004563.4):c.1607G>A (p.R536Q) - DCAF11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19110G>A r.(?) p.(=) Unknown - VUS g.24572811C>T - PCK2(NM_001308054.1):c.1159C>T (p.R387C) - DCAF11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19050G>A r.(?) p.(=) Unknown - VUS g.24572751C>T - PCK2(NM_004563.4):c.1501C>T (p.R501W) - DCAF11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-19009dup r.(?) p.(=) Unknown - likely benign g.24572716dup - PCK2(NM_001308054.1):c.1067-3dupC - DCAF11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-15722C>A r.(?) p.(=) Unknown - VUS g.24569423G>T - PCK2(NM_001018073.2):c.1235G>T (p.G412V), PCK2(NM_004563.3):c.1234+1G>T - DCAF11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-15645C>T r.(?) p.(=) Unknown - likely benign g.24569346G>A - PCK2(NM_001308054.1):c.756G>A (p.V252=) - DCAF11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-15642G>A r.(?) p.(=) Unknown - likely benign g.24569343C>T - PCK2(NM_001308054.1):c.753C>T (p.G251=) - DCAF11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14661A>C r.(?) p.(=) Unknown - VUS g.24568362T>G g.24099153T>G PCK2(NM_001018073.1):c.769T>G (p.(Ser257Ala)) - PCK2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14183G>A r.(?) p.(=) Unknown - VUS g.24567884C>T - PCK2(NM_004563.4):c.661C>T (p.(Gln221Ter)) - DCAF11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14099G>A r.(?) p.(=) Unknown - VUS g.24567800C>T - PCK2(NM_004563.4):c.577C>T (p.(Arg193Ter), p.R193*) - DCAF11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14099G>A r.(?) p.(=) Unknown - VUS g.24567800C>T - PCK2(NM_004563.4):c.577C>T (p.(Arg193Ter), p.R193*) - DCAF11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14099G>A r.(?) p.(=) Unknown - VUS g.24567800C>T - PCK2(NM_004563.4):c.577C>T (p.(Arg193Ter), p.R193*) - DCAF11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-13895_-13894insTCTCATCCACAGC r.(?) p.(=) Unknown - pathogenic g.24567596_24567597insCTGTGGATGAGAG - PCK2(NM_001308054.1):c.58_59insCTGTGGATGAGAG (p.G20Afs*31) - DCAF11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-13892_-13891insGAAACCTCT r.(?) p.(=) Unknown - VUS g.24567592_24567593insAGAGGTTTC - PCK2(NM_001308054.1):c.54_55insAGAGGTTTC (p.M18_Q19insRGF) - DCAF11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13803G>A r.(?) p.(=) Unknown - likely benign g.24567504C>T g.24098295C>T PCK2(NM_004563.3):c.368C>T (p.P123L) - DCAF11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-13797T>G r.(?) p.(=) Unknown - benign g.24567498A>C g.24098289A>C PCK2(NM_004563.4):c.362A>C (p.Q121P) - PCK2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-27-2A>G r.spl? p.(?) Both (homozygous) - likely pathogenic g.24552086T>C - c.-27-2A>G - NRL_000044 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.? r.? p.? Parent #2 - pathogenic g.? - p.Ala129fs - SERPINA1_000009 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+/. - c.? r.? p.? Parent #2 - pathogenic g.? - p.Ser6fs - SERPINA1_000009 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - Pro51Ala - SERPINA1_000009 - PubMed: Daiger 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease UTAD198 PubMed: Daiger 2014 - - - United States - - - - - 1 LOVD
+/. - c.16del r.(?) p.(Ser6Alafs*13) Parent #1 - pathogenic g.24552042del g.24082833del 16delA - NRL_000025 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+/. - c.23del r.(?) p.(Leu8ArgfsTer11) Parent #1 - pathogenic g.24552035del g.24082826del 23delT - NRL_000028 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K2291 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
?/. - c.41A>C r.(?) p.(Asn14Thr) Unknown - VUS g.24552017T>G - NRL(NM_001354768.3):c.41A>C (p.(Asn14Thr)) - DCAF11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.73C>T r.(?) p.(Arg25Trp) Unknown - VUS g.24551985G>A g.24082776G>A - - NRL_000016 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 6/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 6 Yoshito Koyanagi
?/. - c.73C>T r.(?) p.(Arg25Trp) Both (homozygous) - VUS g.24551985G>A g.24082776G>A - - NRL_000016 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.74G>A r.(?) p.(Arg25Gln) Unknown - VUS g.24551984C>T - NRL(NM_006177.5):c.74G>A (p.R25Q) - DCAF11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.91C>T r.(?) p.(Arg31*) Both (homozygous) - pathogenic g.24551967G>A g.24082758G>A - - NRL_000011 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - F no Israel Jewish-Oriental - - - - 1 Dror Sharon
+/. - c.91C>T r.(?) p.(Arg31*) Unknown ACMG pathogenic g.24551967G>A - - - NRL_000011 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - 3 Global Variome, with Curator vacancy
+/. - c.91C>T r.(?) p.(Arg31*) Unknown ACMG pathogenic g.24551967G>A - - - NRL_000011 - 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.91C>T r.(?) p.(Arg31*) Both (homozygous) - likely pathogenic g.24551967G>A g.24082758G>A NRL (NM_006177.3; OMIM: 162080): c.91C>T; p.Arg31* (hom) (ESCS), PABPN1 (NM_004643; OMIM: 602279): (GCN)13 (hom) (OPMD) - NRL_000011 homozygous PubMed: Ehrenberg 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - ? Family 14 patient 1 PubMed: Ehrenberg 2019 - ? no Israel - - - - - 1 LOVD
+?/. - c.91C>T r.(?) p.(Arg31*) Both (homozygous) - likely pathogenic g.24551967G>A g.24082758G>A NRL (NM_006177.3; OMIM: 162080): c.91C>T; p.Arg31* (hom) (ESCS), PABPN1 (NM_004643; OMIM: 602279): (GCN)13 (hom) (OPMD) - NRL_000011 homozygous PubMed: Ehrenberg 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - ? Family 15 patient 1 PubMed: Ehrenberg 2019 - ? no Israel - - - - - 1 LOVD
+?/. - c.91C>T r.(?) p.(Arg31*) Parent #1 - likely pathogenic g.24551967G>A g.24082758G>A NRL, variant 1: c.91C>T/p.R31*, variant 2: c.223dup/p.L75Pfs*19 - NRL_000011 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 1238 PubMed: Weisschuh 2020 Filing key number: 998, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Both (homozygous) - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 homozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease D3 PubMed: Braverman 2017 family D (BJ) brother of 4 and 5 M yes - - 56y - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Both (homozygous) - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 homozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease D4 PubMed: Braverman 2017 family D (BJ) sister of 5 and 3 F yes - - 51y - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Both (homozygous) - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 homozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease D5 PubMed: Braverman 2017 family D (BJ) brother of 4 and 3 M yes - - 50y - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD D1 PubMed: Braverman 2017 family D (BJ) father of 3, 4, 5 M yes - - 72y - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD D2 PubMed: Braverman 2017 family D (BJ) mother of 3, 4, 5 F yes - - 89y - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Paternal (confirmed) - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD A2 PubMed: Braverman 2017 family D (BJ) son of 5 M - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Both (homozygous) - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 homozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease A1 PubMed: Braverman 2017 family A, mother of 2 and 3 F - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD A2 PubMed: Braverman 2017 family A, daughter1 of 1 F - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD A3 PubMed: Braverman 2017 family A, daughter2 of 1 F - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Both (homozygous) - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 homozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease B PubMed: Braverman 2017 family B F - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD C PubMed: Braverman 2017 family C M - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD E PubMed: Braverman 2017 family E F - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD F PubMed: Braverman 2017 family F F - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD G PubMed: Braverman 2017 family G M - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD H PubMed: Braverman 2017 family H M - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD I PubMed: Braverman 2017 family I F - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD J PubMed: Braverman 2017 family J F - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD K PubMed: Braverman 2017 family K F - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD L PubMed: Braverman 2017 family L F - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD M PubMed: Braverman 2017 family M F - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD N PubMed: Braverman 2017 family N F - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD O PubMed: Braverman 2017 family O F - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD P PubMed: Braverman 2017 family P F - - - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Arg31*) Unknown - pathogenic g.24551967G>A g.24082758G>A NRL p.R31X - NRL_000011 heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD Q PubMed: Braverman 2017 family Q F - - - - - - - 1 LOVD
+/. - c.104dup r.(?) p.(Thr36Tyrfs*20) Unknown - pathogenic g.24551959dup g.24082750dup - - NRL_000009 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 1893 PubMed: Haer-Wigman 2017 patient - yes Netherlands - - - - - 1 LOVD
+/. - c.104dup r.(?) p.(Thr36Tyrfs*20) Unknown - pathogenic g.24551959dup g.24082750dup - - NRL_000009 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 1893 PubMed: Haer-Wigman 2017 patient - yes Netherlands - - - - - 1 LOVD
+/. - c.104dup r.(?) p.(Thr36Tyrfs*20) Both (homozygous) - pathogenic g.24551954dup - c.104dup - NRL_000009 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 3 c.146C>T r.(?) p.(Pro49Leu) Paternal (inferred) - pathogenic g.24551912G>A g.24082703G>A NRL c.146 C>T, p.P49L - NRL_000043 heterozygous PubMed: Gao 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease II:2 PubMed: Gao 2016 - M - China - - - - - 1 LOVD
+/. 3 c.146C>T r.(?) p.(Pro49Leu) Paternal (inferred) - pathogenic g.24551912G>A g.24082703G>A NRL c.146 C>T, p.P49L - NRL_000043 heterozygous PubMed: Gao 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease II:3 PubMed: Gao 2016 - M - China - - - - - 1 LOVD
+/. 3 c.146C>T r.(?) p.(Pro49Leu) Paternal (confirmed) - pathogenic g.24551912G>A g.24082703G>A NRL c.146 C>T, p.P49L - NRL_000043 heterozygous PubMed: Gao 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease III:2 PubMed: Gao 2016 - F - China - - - - - 1 LOVD
+/. 3 c.146C>T r.(?) p.(Pro49Leu) Paternal (confirmed) - pathogenic g.24551912G>A g.24082703G>A NRL c.146 C>T, p.P49L - NRL_000043 heterozygous PubMed: Gao 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease III:4 PubMed: Gao 2016 - M - China - - - - - 1 LOVD
+/. 3 c.146C>T r.(?) p.(Pro49Leu) Paternal (confirmed) - pathogenic g.24551912G>A g.24082703G>A NRL c.146 C>T, p.P49L - NRL_000043 heterozygous PubMed: Gao 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease III:7 PubMed: Gao 2016 - M - China - - - - - 1 LOVD
+/. 3 c.146C>T r.(?) p.(Pro49Leu) Paternal (confirmed) - pathogenic g.24551912G>A g.24082703G>A NRL c.146 C>T, p.P49L - NRL_000043 heterozygous PubMed: Gao 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease III:11 PubMed: Gao 2016 - F - China - - - - - 1 LOVD
+/. 3 c.146C>T r.(?) p.(Pro49Leu) Maternal (confirmed) - pathogenic g.24551912G>A g.24082703G>A NRL c.146 C>T, p.P49L - NRL_000043 heterozygous PubMed: Gao 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease III:15 PubMed: Gao 2016 - F - China - - - - - 1 LOVD
+/. 3 c.147_149del r.(?) p.Ser50del Maternal (confirmed) - pathogenic g.24551910_24551912del g.24082701_24082703del NRL c.147_149del, p.Ser50del - NRL_000042 heterozygous PubMed: Qin 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease III:1 PubMed: Qin 2017 - F - China - - - - - 1 LOVD
+/. 3 c.147_149del r.(?) p.Ser50del Paternal (inferred) - pathogenic g.24551910_24551912del g.24082701_24082703del NRL c.147_149del, p.Ser50del - NRL_000042 heterozygous PubMed: Qin 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease II:2 PubMed: Qin 2017 - F - China - - - - - 1 LOVD
+?/. - c.148T>A r.(?) p.(Ser50Thr) Paternal (confirmed) - likely pathogenic (dominant) g.24551910A>T g.24082701A>T NRL c.148T>A, p.(Ser50Thr) - NRL_000034 heterozygous PubMed: Bessant 1999 - - Germline yes - - - - DNA SEQ, RFLP - - retinal disease famRP251pat_III:1 PubMed: Bessant 1999 Family RP251 F - - - - - - - 1 LOVD
+?/. - c.148T>A r.(?) p.(Ser50Thr) Paternal (confirmed) - likely pathogenic (dominant) g.24551910A>T g.24082701A>T NRL c.148T>A, p.(Ser50Thr) - NRL_000034 heterozygous PubMed: Bessant 1999 - - Germline yes - - - - DNA SEQ, RFLP - - retinal disease famRP251pat_III:3 PubMed: Bessant 1999 Family RP251 F - - - - - - - 1 LOVD
+?/. - c.148T>A r.(?) p.(Ser50Thr) Maternal (confirmed) - likely pathogenic (dominant) g.24551910A>T g.24082701A>T NRL c.148T>A, p.(Ser50Thr) - NRL_000034 heterozygous PubMed: Bessant 1999 - - Germline yes - - - - DNA SEQ, RFLP - - retinal disease famRP251pat_III:5 PubMed: Bessant 1999 Family RP251 F - - - - - - - 1 LOVD
+?/. - c.148T>A r.(?) p.(Ser50Thr) Maternal (confirmed) - likely pathogenic (dominant) g.24551910A>T g.24082701A>T NRL c.148T>A, p.(Ser50Thr) - NRL_000034 heterozygous PubMed: Bessant 1999 - - Germline yes - - - - DNA SEQ, RFLP - - retinal disease famRP251pat_III:6 PubMed: Bessant 1999 Family RP251 F - - - - - - - 1 LOVD
+?/. - c.148T>A r.(?) p.(Ser50Thr) Maternal (confirmed) - likely pathogenic (dominant) g.24551910A>T g.24082701A>T NRL c.148T>A, p.(Ser50Thr) - NRL_000034 heterozygous PubMed: Bessant 1999 - - Germline yes - - - - DNA SEQ, RFLP - - retinal disease famRP251pat_III:7 PubMed: Bessant 1999 Family RP251 M - - - - - - - 1 LOVD
+?/. - c.148T>A r.(?) p.(Ser50Thr) Maternal (confirmed) - likely pathogenic (dominant) g.24551910A>T g.24082701A>T NRL c.148T>A, p.(Ser50Thr) - NRL_000034 heterozygous PubMed: Bessant 1999 - - Germline yes - - - - DNA SEQ, RFLP - - retinal disease famRP251pat_III:9 PubMed: Bessant 1999 Family RP251 M - - - - - - - 1 LOVD
+?/. - c.148T>A r.(?) p.(Ser50Thr) Paternal (confirmed) - likely pathogenic (dominant) g.24551910A>T g.24082701A>T NRL c.148T>A, p.(Ser50Thr) - NRL_000034 heterozygous PubMed: Bessant 1999 - - Germline yes - - - - DNA SEQ, RFLP - - retinal disease famRP251pat_III:11 PubMed: Bessant 1999 Family RP251 M - - - - - - - 1 LOVD
+?/. - c.148T>A r.(?) p.(Ser50Thr) Maternal (inferred) - likely pathogenic (dominant) g.24551910A>T g.24082701A>T NRL c.148T>A, p.(Ser50Thr) - NRL_000034 heterozygous PubMed: Bessant 2000 - - Germline yes - - - - DNA HD blood - retinal disease famRP357pat_III:3 PubMed: Bessant 2000 Family RP357 M - United Kingdom (Great Britain) south-east England - - - - 1 LOVD
+?/. - c.148T>A r.(?) p.(Ser50Thr) Paternal (inferred) - likely pathogenic (dominant) g.24551910A>T g.24082701A>T NRL c.148T>A, p.(Ser50Thr) - NRL_000034 heterozygous PubMed: Bessant 2000 - - Germline yes - - - - DNA HD blood - retinal disease famRP357pat_IV:4 PubMed: Bessant 2000 Family RP357 M - United Kingdom (Great Britain) south-east England - - - - 1 LOVD
+?/. - c.148T>A r.(?) p.(Ser50Thr) Paternal (inferred) - likely pathogenic (dominant) g.24551910A>T g.24082701A>T NRL c.148T>A, p.(Ser50Thr) - NRL_000034 heterozygous PubMed: Bessant 2000 - - Germline yes - - - - DNA HD blood - retinal disease famRP57pat_IV:3 PubMed: Bessant 2000 Family RP57 F - United Kingdom (Great Britain) south-east England - - - - 1 LOVD
+?/. - c.148T>A r.(?) p.(Ser50Thr) Maternal (confirmed) - likely pathogenic (dominant) g.24551910A>T g.24082701A>T NRL c.148T>A, p.(Ser50Thr) - NRL_000034 heterozygous PubMed: Bessant 2000 - - Germline yes - - - - DNA HD blood - retinal disease famRP57pat_V:1 PubMed: Bessant 2000 Family RP57 M - United Kingdom (Great Britain) south-east England - - - - 1 LOVD
+?/. - c.148T>A r.(?) p.(Ser50Thr) Maternal (inferred) - likely pathogenic (dominant) g.24551910A>T g.24082701A>T NRL c.148T>A, p.(Ser50Thr) - NRL_000034 heterozygous PubMed: Bessant 2000 - - Germline yes - - - - DNA HD blood - retinal disease famRP3097pat_II:4 PubMed: Bessant 2000 Family RP3097 M - United Kingdom (Great Britain) south-east England - - - - 1 LOVD
+?/. - c.148T>A r.(?) p.(Ser50Thr) Unknown - likely pathogenic g.24551910A>T g.24082701A>T NRL c.148T>A, p.S50T - NRL_000034 NRL isoforms: 1, localisation: nuclear; binding to NRE: yes; luciferase assay (Rho promoter and CRX): up; effect: likely pathogenic mutation PubMed: Kanda 2007 - - In vitro (cloned) ? - - - - DNA ? - - retinal disease ? PubMed: Kanda 2007 cell line (HEK) NRL protein investigation - - - - - - - - 1 LOVD
+/. - c.148T>C r.(?) p.(Ser50Pro) Parent #1 - pathogenic g.24551910A>G g.24082701A>G - - NRL_000019 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 1031 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+?/. 3 c.148T>C r.(?) p.(Ser50Pro) Unknown - likely pathogenic g.24551910A>G g.24082701A>G NRL TCA -> CCA, Ser50Pro - NRL_000019 no nucleotide annotation, extrapolated from protein; heterozygous PubMed: DeAngelis 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease fam5715(001-083)pat_II:2 PubMed: DeAngelis 2002 index patient F - - - - - - - 1 LOVD
+?/. 3 c.148T>C r.(?) p.(Ser50Pro) Maternal (confirmed) - likely pathogenic g.24551910A>G g.24082701A>G NRL TCA -> CCA, Ser50Pro - NRL_000019 no nucleotide annotation, extrapolated from protein; heterozygous PubMed: DeAngelis 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease fam5715(001-083)pat_III:2 PubMed: DeAngelis 2002 index patient's daughter 1 F - - - - - - - 1 LOVD
+?/. 3 c.148T>C r.(?) p.(Ser50Pro) Maternal (confirmed) - likely pathogenic g.24551910A>G g.24082701A>G NRL TCA -> CCA, Ser50Pro - NRL_000019 no nucleotide annotation, extrapolated from protein; heterozygous PubMed: DeAngelis 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease fam5715(001-083)pat_III:3 PubMed: DeAngelis 2002 index patient's daughter 2 F - - - - - - - 1 LOVD
+?/. - c.148T>C r.(?) p.(Ser50Pro) Unknown - likely pathogenic g.24551910A>G g.24082701A>G NRL c.148T>C, p.S50P - NRL_000019 NRL isoforms: 1, localisation: nuclear; binding to NRE: yes; luciferase assay (Rho promoter and CRX): up; effect: likely pathogenic mutation PubMed: Kanda 2007 - - In vitro (cloned) ? - - - - DNA ? - - retinal disease ? PubMed: Kanda 2007 cell line (HEK) NRL protein investigation - - - - - - - - 1 LOVD
+/. - c.148T>C r.(?) p.(Ser50Pro) Unknown - pathogenic g.24551910A>G - - - NRL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.149C>T r.(?) p.(Ser50Leu) Unknown - pathogenic g.24551909G>A g.24082700G>A - - NRL_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
+/. 3 c.149C>T r.(?) p.(Ser50Leu) Paternal (confirmed) ACMG pathogenic g.24551909G>A g.24082700G>A - - NRL_000015 - 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 303 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 3 LOVD
+/. 3 c.149C>T r.(?) p.(Ser50Leu) Maternal (confirmed) ACMG pathogenic g.24551909G>A g.24082700G>A - - NRL_000015 - 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 304 Tracewska 2021, MolVis in press father M no Poland Slavic - - yes - 1 LOVD
+/. 3 c.149C>T r.(?) p.(Ser50Leu) Maternal (inferred) ACMG pathogenic g.24551909G>A g.24082700G>A - - NRL_000015 - 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 825 Tracewska 2021, MolVis in press paternal grandmother F no Poland Slavic - - yes - 1 LOVD
+?/. - c.149C>T r.(?) p.(Ser50Leu) Unknown - likely pathogenic g.24551909G>A g.24082700G>A NRL c.149C>T, p.S50L - NRL_000015 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 5 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
?/. - c.149C>T r.(?) p.(Ser50Leu) Unknown ACMG VUS g.24551909G>A g.24082700G>A NRL c.C149T, p.S50L - NRL_000015 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 117 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 3 c.149C>T r.(?) p.(Ser50Leu) Unknown - likely pathogenic g.24551909G>A g.24082700G>A NRL TCA -> TTA Ser50Leu - NRL_000015 no nucleotide annotation, extrapolated from protein; heterozygous PubMed: DeAngelis 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease famE481 (001-338)pat_I:2 PubMed: DeAngelis 2002 index patient's paternal grandmother F - - - - - - - 1 LOVD
+?/. 3 c.149C>T r.(?) p.(Ser50Leu) Maternal (confirmed) - likely pathogenic g.24551909G>A g.24082700G>A NRL TCA -> TTA Ser50Leu - NRL_000015 no nucleotide annotation, extrapolated from protein; heterozygous PubMed: DeAngelis 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease famE481 (001-338)pat_II:2 PubMed: DeAngelis 2002 index patient's father M - - - - - - - 1 LOVD
+?/. 3 c.149C>T r.(?) p.(Ser50Leu) Maternal (confirmed) - likely pathogenic g.24551909G>A g.24082700G>A NRL TCA -> TTA Ser50Leu - NRL_000015 no nucleotide annotation, extrapolated from protein; heterozygous PubMed: DeAngelis 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease famE481 (001-338)pat_II:4 PubMed: DeAngelis 2002 index patient's paternal aunt F - - - - - - - 1 LOVD
+?/. 3 c.149C>T r.(?) p.(Ser50Leu) Paternal (confirmed) - likely pathogenic g.24551909G>A g.24082700G>A NRL TCA -> TTA Ser50Leu - NRL_000015 no nucleotide annotation, extrapolated from protein; heterozygous PubMed: DeAngelis 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease famE481 (001-338)pat_III:1 PubMed: DeAngelis 2002 index patient M - - - - - - - 1 LOVD
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