Full data view for gene NDP

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000266.3 transcript reference sequence.

227 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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     
+?/. _2_3_ c.(-208+1_-207-1)_(*1024_?) r.(?) p.(?) Maternal (confirmed) - likely pathogenic g.? g.? exon 2 and 3 deletion - USP9X_000005 - PubMed: Liu 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease Family_3_III-1 PubMed: Liu 2019 Family 3, case 3 M - China - - - - - 1 LOVD
+?/. _2_3_ c.(-208+1_-207-1)_(*1024_?) r.(?) p.(?) Unknown - likely pathogenic g.? g.? exon 2 and 3 deletion - USP9X_000005 - PubMed: Liu 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease Family_3_II-2 PubMed: Liu 2019 Family 3, mother of case 3 F - China - - - - - 1 LOVD
+?/. _2_3_ c.(-208+1_-207-1)_(*1024_?) r.(?) p.(?) Unknown - likely pathogenic g.? g.? exon 2 and 3 deletion - USP9X_000005 - PubMed: Liu 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease Family_3_II-3 PubMed: Liu 2019 Family 3, matenral aunt of case 3 F - China - - - - - 1 LOVD
+?/. _2_3_ c.(-208+1_-207-1)_(*1024_?) r.(?) p.(?) Maternal (confirmed) - likely pathogenic g.? g.? exon 2 and 3 deletion - USP9X_000005 - PubMed: Liu 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ amniotic fluid - retinal disease Family_3_III-2 PubMed: Liu 2019 Family 3, sister of case 3 (tested at 19 weeks gestation) F - China - - - - - 1 LOVD
?/. 1 c.-396_-383del r.(?) p.? Maternal (inferred) - VUS g.43832750_43832763del g.43973504_43973517del NDP c.9_22del - NDP_000117 obsolete nucleotide annotation, extrapolated from databases; hemizygous PubMed: Wu 2007 - - Germline yes 0/54 unrelated normal controls; high frequency in databases (1,4% heterozygous individuals) - - - DNA SEQ blood - ROP 11 PubMed: Wu 2007 - M - - - - - - - 1 LOVD
-?/. - c.-396_-383del r.(?) p.(=) Unknown - likely benign g.43832750_43832763del - NDP(NM_000266.4):c.-396_-383delTCCCTCTCTCTCTC - NDP_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-396_-383del r.(-396_-383del) p.(=) Maternal (confirmed) - VUS g.43832750_43832763del g.43973504_43973517del del14 - NDP_000117 - PubMed: Hiraoka 2001 - - Germline - - - - - DNA SEQ - - RS1 Fam1PatII4/IV1 PubMed: Hiraoka 2001, PubMed: Shastry 2010 5-generation family, 2 affected (grandfather/grandson), unaffected carrier mother M - United States - - - - - 2 Johan den Dunnen
?/. 1 c.-382_-371dup r.(?) p.? Maternal (inferred) - VUS g.43832736_43832747dup g.43973490_43973501dup NDP c.3_4insCTCTCTCTCTCC - NDP_000116 obsolete nucleotide annotation, extrapolated from databases; hemizygous PubMed: Wu 2007 - - Germline yes 0/54 unrelated normal controls - - - DNA SEQ blood - ND 10 PubMed: Wu 2007 - M - - - - - - - 1 LOVD
?/. - c.-208G>A r.? p.? Both (homozygous) ACMG VUS g.43832550C>T g.43973304C>T - - NDP_000121 ACMG PM1, PP3 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs, WGS ? FamDPatIII1 PubMed: Basharat 2024 3-generation family, 7 affected (7M) M yes Pakistan - - - - - 7 Rabia Basharat
?/. - c.-208G>A r.? p.? Both (homozygous) ACMG VUS g.43832550C>T g.43973304C>T - - NDP_000121 ACMG PM1, PP3 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs, WGS ? FamDPatIII2 PubMed: Basharat 2024 brother M yes Pakistan - - - - - 1 Rabia Basharat
+/. - c.-208+1G>A r.spl p.(?) Maternal (confirmed) - pathogenic g.43832549C>T g.43973303C>T c.-208+1C>T, p.? - NDP_000100 error in annotation: c.-208+1C>T instead of G>A, hemizygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14391 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. 1i c.-208+2T>G r.spl? p.(0?) Parent #1 - likely pathogenic g.43832548A>C g.43973302A>C - - NDP_000036 - PubMed: Nikopoulos 2010 - - Unknown - 1/46 cases - - - DNA SEQ - - ND - PubMed: Nikopoulos 2010 - - - - - - - - - 1 Frans Cremers
+?/. 1i c.-208+5G>A r.(spl?) p.(0?) Parent #1 - likely pathogenic g.43832545C>T g.43973299C>T - - NDP_000037 - PubMed: Nikopoulos 2010 - - Germline - 1/46 cases - - - DNA SEQ - - ND - PubMed: Nikopoulos 2010 - - - - - - - - - 2 Frans Cremers
+?/. - c.-208+5G>A r.spl? p.? Unknown - likely pathogenic g.43832545C>T g.43973299C>T - - NDP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_2i c.-207-54_174+366del r.? p.0? Maternal (confirmed) - pathogenic (recessive) g.43958108_43958908del g.43817354_43818154del del ex2 801bp - NDP_000119 - PubMed: Zhao 2022 - - Germline yes - - - - DNA PCR, SEQ, SEQ-NG - WES clinical blindness Fam1PatIII1 PubMed: Zhao 2022 4-generation family, 5 affected (5M), 4 unaffected carrier mother M - China - - - - - 5 Johan den Dunnen
+?/. - c.(-208+1_-207-1)_(174+1_175-1)del r.spl p.(?) Maternal (inferred) - likely pathogenic g.? g.? NDP Deletion of exon 2 - USP9X_000005 no protein change given, probably hemizygous (gender unknown) PubMed: Zanolli 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 53 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - 1 LOVD
+?/. _1 c.-77A>G r.(=) p.(=) Maternal (inferred) - likely pathogenic g.43817968T>C g.43958722T>C - - NDP_000048 - PubMed: Wu 2016 - - Germline - - - - - DNA SEQ peripheral blood leukocytes gene panel EVR;FEVR E9 III-2 PubMed: Wu 2016 family of 3-generations, 2 affected M no Taiwan - - - - - 2 Jasmine Chen
+?/. _1 c.-77A>G r.(=) p.(=) Maternal (inferred) - likely pathogenic g.43817968T>C g.43958722T>C - - NDP_000048 - PubMed: Wu 2016 - - Germline ? - - - - DNA SEQ peripheral blood leukocytes gene panel EVR;FEVR E9 III-4 PubMed: Wu 2016 3 generation family, 2 affected M no Taiwan - - - - right eye intraocular lens implantation 1 Jasmine Chen
+/. _2_3_ c.(?_-54)_(*245_?)del r.0 p.0 Unknown - likely pathogenic g.(?_43949554)_(43958592_?)del - c.1-?_402+?del - NDP_000052 - PubMed: Yang 2012 - - Germline/De novo (untested) - 2/44 probands, 0/96 controls - - - DNA SEQ - direct sequencing ND QT834 II:1 PubMed: Yang 2012 2 generation family, 1 affected, isolated M no China - - - - - 1 Jasmine Chen
+/. _2_3_ c.(?_-54)_(*245_?)del r.0 p.0 Maternal (inferred) - likely pathogenic g.(?_43949554)_(43958592_?)del - c.1-?_402+?del - NDP_000052 location deletion based on primers used PubMed: Yang 2012 - - Germline ? 0/96 controls - - - DNA SEQ - direct sequencing ND QT871 IV:2 PubMed: Yang 2012 4 generation family, 2 affected M no China - - - - - 2 Jasmine Chen
?/. _1 c.-39_-26del r.(?) p.(=) Parent #1 - VUS g.43817919_43817932del g.43958673_43958686del - - NDP_000076 - PubMed: Dickinson 2006 - - Germline/De novo (untested) - 1/45 - - - DNA PCR - direct sequencing Healthy/Control - PubMed: Dickinson 2006 prematurely born at 29 weeks of gestation, 1195g, oxygen therapy (normal at ocular exam) F ? Australia - - - - - 1 Jasmine Chen
?/. _1 c.-16_-3del r.(?) p.(?) Maternal (confirmed) - VUS g.43817896_43817909del g.43958650_43958663del - - NDP_000075 mother heterozygous PubMed: Dickinson 2006 - - Germline - 1/45 - - - DNA PCR - direct sequencing ROP - PubMed: Dickinson 2006 - M ? Australia - - - - - 1 Jasmine Chen
+/. - c.? r.0 p.0 Unknown ACMG pathogenic g.? - Deletion of NDP,MAOA,MAOB - 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) - VUS g.? - NDP c.*717T>C - USP9X_000005 NDP c.*717T>C not possible to pinpoint the actual variant on the transcript level PubMed: Wu 2007 - - Germline ? 0/54 unrelated normal controls - - - DNA SEQ blood - EVR2 7 PubMed: Wu 2007 - M - - - - - - - 1 Anna Tracewska
+/. 2 c.11_12del r.(?) p.(His4Argfs*21) Parent #1 - pathogenic g.43817880_43817881del g.43958634_43958635del - - NDP_000001 - PubMed: Nikopoulos 2010 - - Unknown - 1/13 cases - - - DNA SEQ - - ND - PubMed: Nikopoulos 2010 - - - - - - - - - 1 Frans Cremers
+/. - c.11_12del r.(?) p.(His4Argfs*21) Unknown - likely pathogenic g.43817880_43817881del g.43958634_43958635del - - NDP_000001 de novo, 0/115 controls PubMed: Musada 2016 - - De novo - 0.009 - - - DNA PCR - direct sequencing EVR2, EVR;FEVR Family 142 IV:1 PubMed: Musada 2016 4 generation family, 1 affected M yes India - - - - - 1 Jasmine Chen
+/. - c.11_12del r.(?) p.(His4Argfs*21) Unknown - pathogenic g.43817880_43817881del - - - NDP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.24_27dup r.(?) p.(Phe10Ilefs*17) Parent #1 - pathogenic g.43817866_43817869dup g.43958620_43958623dup - - NDP_000010 - Berger 1992 - - Unknown - 1/17 cases - - - DNA SEQ - - ND - Berger 1992 - - - - - - - - - 1 Frans Cremers
+/. 2 c.25_40del r.(?) p.(Ser9Profs*4) Parent #1 - pathogenic g.43817852_43817867del g.43958606_43958621del - - NDP_000011 - PubMed: Nikopoulos 2010 - - Unknown - 1/13 cases - - - DNA SEQ - - ND - PubMed: Nikopoulos 2010 - - - - - - - - - 1 Frans Cremers
+/. - c.37_57del r.(?) p.(Leu13_Met19del) Maternal (confirmed) - pathogenic (recessive) g.43817838_43817858del g.43958592_43958612del 37_57del21 - NDP_000122 - PubMed: Jimenez 2022 - - Germline - - - - - DNA SEQ-NG - gene panel EVR;FEVR Pat2 PubMed: Jimenez 2022 2-generation family, 1 affected, unaffected carrier mother/sister M - United States - - - - - 1 Johan den Dunnen
+/. 2 c.38T>G r.(?) p.(Leu13Arg) Parent #1 - pathogenic g.43817854A>C g.43958608A>C - - NDP_000012 - Fuchs 1996 - - Germline - - - - - DNA SEQ - - ND - Fuchs 1996 - - - - - - - - - 1 Frans Cremers
+/. 2 c.47T>C r.(?) p.(Leu16Pro) Parent #1 - pathogenic g.43817845A>G g.43958599A>G - - NDP_000013 - Yamada 2001 - - Germline - 1/2 cases - - - DNA SEQ - - ND - Yamada 2001 - - - - - - - - - 1 Frans Cremers
+/. 2 c.50dup r.(?) p.(Ile18Aspfs*8) Parent #1 - pathogenic g.43817842dup g.43958596dup 50dupT - NDP_000014 - Gal 1996 - - Germline - 1/3 cases - - - DNA SEQ - - ND - Gal 1996 - - - - - - - - - 1 Frans Cremers
+/. 2 c.52_53ins(32) r.(?) p.(Ser29fs) Maternal (inferred) - pathogenic g.43817839_43817840insN[32] - c.52_53ins32 - NDP_000104 - PubMed: Rao 2017 - - Germline - - - - - DNA SEQ blood - retinal disease F21 PubMed: Rao 2017 - M - China - - - - - 1 LOVD
+/. 2 c.53T>A r.(?) p.(Ile18Lys) Parent #1 - pathogenic g.43817839A>T g.43958593A>T - - NDP_000015 - Kondo 2007 - - Unknown - 1/65 cases - - - DNA SEQ - - EVR2 - Kondo 2007 - - - - - - - - - 1 Frans Cremers
?/. 2 c.58G>A r.(?) p.(Gly20Arg) Unknown - VUS g.43817834C>T g.43958588C>T G58A - NDP_000092 - PubMed: Katagiri 2014 - rs200594881 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#011 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+/. 2 c.65del r.(?) p.(Thr22Lysfs*10) Parent #1 - pathogenic g.43817827del g.43958581del 65delC - NDP_000016 - PubMed: Schuback 1995 - - Germline - 1/26 cases - - - DNA SEQ - - ND - PubMed: Schuback 1995 - - - - - - - - - 1 Frans Cremers
-/. - c.69C>G r.(?) p.(Asp23Glu) Unknown - benign g.43817823G>C g.43958577G>C NDP(NM_000266.3):c.69C>G (p.(Asp23Glu)), NDP(NM_000266.4):c.69C>G (p.D23E) - NDP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.69C>G r.(?) p.(Asp23Glu) Unknown - likely benign g.43817823G>C g.43958577G>C NDP(NM_000266.3):c.69C>G (p.(Asp23Glu)), NDP(NM_000266.4):c.69C>G (p.D23E) - NDP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.69del r.(?) p.(Asp23Glufs*9) Maternal (confirmed) - pathogenic g.43817823del g.43958577del 69delC - NDP_000074 mother affected to lesser degree, 0/115 controls PubMed: Musada 2016 - - Germline yes 0.009 - - - DNA PCR - - EVR2, EVR;FEVR Family 21 IV:2 PubMed: Musada 2013 4 generation family, 2 affected (1 male proband and mother) M yes India - - - - - 2 Jasmine Chen
+/. 2 c.86C>G r.(?) p.(Ser29*) Parent #1 - pathogenic g.43817806G>C g.43958560G>C - - NDP_000017 - Meindl 1992 - - Unknown - 1/6 cases - - - DNA SEQ - - ND - Meindl 1992 - - - - - - - - - 1 Frans Cremers
?/. - c.91A>G r.(?) p.(Ile31Val) Unknown - VUS g.43817801T>C g.43958555T>C NDP(NM_000266.3):c.91A>G (p.(Ile31Val)) - NDP_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.109C>T r.(?) p.(Arg37*) Parent #1 - pathogenic g.43817783G>A g.43958537G>A - - NDP_000002 - Ott 2000 - - Germline - - - - - DNA SEQ - - ND - Ott 2000 - - - - - - - - - 1 Frans Cremers
+/. 2 c.109C>T r.(?) p.(Arg37*) Unknown ACMG pathogenic g.43817783G>A g.43958537G>A 1966del c.109C>T, p.R37X - NDP_000002 - PubMed: Surl 2020 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease 13 PubMed: Li 2018 - M - China - - - - - 1 LOVD
+/. 2 c.112C>T r.(?) p.(Arg38Cys) Parent #1 - pathogenic g.43817780G>A g.43958534G>A - - NDP_000003 - Royer 2003 - - Unknown - 1/21 cases - - - DNA SEQ - - EVR2 - Royer 2003 - - - - - - - - - 1 Frans Cremers
+/. 2 c.112C>T r.(?) p.(Arg38Cys) Parent #1 - pathogenic g.43817780G>A g.43958534G>A - - NDP_000003 - PubMed: Riveiro-Alvarez 2005 - - Germline - 2/5 cases - - - DNA SEQ - - ND - PubMed: Riveiro-Alvarez 2005 - - - Spain - - - - - 1 Frans Cremers
+?/. - c.112C>T r.(?) p.(Arg38Cys) Unknown - likely pathogenic g.43817780G>A g.43958534G>A NDP(NM_000266.4):c.112C>T (p.R38C) - NDP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.112C>T r.(?) p.(Arg38Cys) Unknown - likely pathogenic g.43817780G>A - NDP(NM_000266.4):c.112C>T (p.R38C) - NDP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.112C>T r.(?) p.(Arg38Cys) Unknown - pathogenic g.43817780G>A g.43958534G>A - - NDP_000003 - PubMed: Salvo 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 1458001 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
+?/. 2 c.112C>T r.(?) p.(Arg38Cys) Maternal (inferred) - likely pathogenic g.43817780G>A g.43958534G>A NDP C>T mutation in exon 2 resulting in a substitution of arginine by cysteine (p.Arg38Cys) - NDP_000003 no nucleotide annotation, extrapolated from protein and databases; hemizygous PubMed: Chamney 2011 - - Germline yes - - - - DNA SEQ blood - EVR2 1 PubMed: Chamney 2011 - M - - - - - - - 1 LOVD
+/. 2 c.115T>C r.(?) p.(Cys39Arg) Parent #1 - pathogenic g.43817777A>G g.43958531A>G - - NDP_000004 - Joos 1994 - - Germline - - - - - DNA SEQ - - ND - Joos 1994 - - - - - - - - - 1 Frans Cremers
+/. 2 c.115T>C r.(?) p.(Cys39Arg) Parent #1 - pathogenic g.43817777A>G g.43958531A>G - - NDP_000004 - Wu 2007 - - Germline - 1/52 cases - - - DNA SEQ - - ND - Wu 2007 - - - - - - - - - 1 Frans Cremers
+?/. 2 c.115T>C r.(?) p.(Cys39Arg) Maternal (inferred) - likely pathogenic g.43817777A>G g.43958531A>G NDP c.523T>C, p.Cys39>Arg - NDP_000004 obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous PubMed: Wu 2007 - - Germline yes 0/54 unrelated normal controls - - - DNA SEQ blood - ND 6 PubMed: Wu 2007 - M - - - - - - - 1 LOVD
?/. 2 c.122G>A r.(?) p.(Arg41Lys) Maternal (inferred) - VUS g.43817770C>T g.43958524C>T - - NDP_000051 - PubMed: Yang 2012 - - Germline ? - - - - DNA PCR peripheral venous leukocytes - EVR;FEVR, ND QT675 IV:6 PubMed: Yang 2012 4 generation family, 4 affected M no China - - - - - 4 Jasmine Chen
+?/. - c.122G>A r.(?) p.(Arg41Lys) Maternal (confirmed) - likely pathogenic g.43817770C>T g.43958524C>T - - NDP_000051 0/35 control individuals PubMed: Shastry 1997 - - De novo - 1/41 - - - DNA PCR - direct sequencing EVR2, EVR;FEVR Family 5 III:2 PubMed: Shastry 1997 sporadic, 3 generation family M no United States - - - - - 1 Jasmine Chen
+?/. - c.122G>A r.(?) p.(Arg41Lys) Maternal (confirmed) - likely pathogenic g.43817770C>T g.43958524C>T c.122C>T, p.(Arg41Lys) - NDP_000051 error in annotation: c.122C>T instead of G>A, hemizygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13602 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+/. - c.122G>C r.(?) p.(Arg41Thr) Unknown - pathogenic g.43817770C>G g.43958524C>G - - NDP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.122G>C r.(?) p.(Arg41Thr) Maternal (confirmed) - likely pathogenic g.43817770C>G g.43958524C>G - - NDP_000044 possible founder haplotype (see Family 2 of same paper) PubMed: Pelcastre 2010 - - Germline yes - - - - DNA PCR - direct sequencing EVR2, EVR;FEVR, ND Family 1 III:6 PubMed: Pelcastre 2010 3 generation family, 12 affected (all male) M no Mexico - - - - - 12 Jasmine Chen
+/. 2 c.122G>C r.(?) p.(Arg41Thr) Maternal (confirmed) - likely pathogenic g.43817770C>G g.43958524C>G - - NDP_000044 possible founder haplotype (See Individual #00274677) PubMed: Pelcastre 2010 - - Germline yes - - - - DNA PCR - direct sequencing EVR2, EVR;FEVR, ND Family 2 III:1 PubMed: Pelcastre 2010 4 generation family, 7 affected (all male) M no Mexico - - - - - 7 Jasmine Chen
+?/. 2 c.123G>C r.(?) p.(Arg41Ser) Maternal (inferred) - likely pathogenic g.43817769C>G g.43958523C>G NDP c.531G>C, p.Arg41 >Ser - NDP_000115 obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous PubMed: Wu 2007 - - Germline yes 0/54 unrelated normal controls - - - DNA SEQ blood - EVR2 4 PubMed: Wu 2007 - M - - - - - - - 1 LOVD
+/. - c.125A>G r.(?) p.(His42Arg) Maternal (confirmed) - pathogenic g.43817767T>C g.43958521T>C - - NDP_000073 0/36 control individuals PubMed: Shastry 1997 - - Germline yes 4/41 - - - DNA PCR - direct sequencing EVR2, EVR;FEVR Family 1 IV:3 PubMed: Shastry 1997 4 generation, 3 affected, 3 unaffected male M no United States - - - - - 3 Jasmine Chen
+?/. 2 c.125A>G r.(?) p.(His42Arg) Maternal (inferred) - likely pathogenic g.43817767T>C g.43958521T>C NDP c.533A>G, p.His42>Arg - NDP_000073 obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous PubMed: Wu 2007 - - Germline yes 0/54 unrelated normal controls - - - DNA SEQ blood - EVR2 2 PubMed: Wu 2007 - M - - - - - - - 1 LOVD
+/. 2 c.127C>A r.(?) p.(His43Asn) Unknown - pathogenic g.43817765G>T - c.127C>A - NDP_000103 - PubMed: Rao 2017 - - De novo - - - - - DNA SEQ blood - retinal disease F31 PubMed: Rao 2017 - M - China - - - - - 1 LOVD
+/. 2 c.128dup r.(?) p.(His43Glnfs*14) Parent #1 - pathogenic g.43817764dup g.43958518dup 128dupA - NDP_000005 - Caballero 1996 - - Unknown - - - - - DNA SEQ - - ND - Caballero 1996 - - - - - - - - - 1 Frans Cremers
+/. 2 c.129del r.(?) p.(Tyr44Metfs*60) Parent #1 - pathogenic g.43817763del g.43958517del - - NDP_000006 - PubMed: Nikopoulos 2010 - - Unknown - 1/13 cases - - - DNA SEQ - - ND - PubMed: Nikopoulos 2010 - - - - - - - - - 1 Frans Cremers
+/. 2 c.131dup r.(?) p.(Tyr44*) Parent #1 - pathogenic g.43817761dup g.43958515dup 131dupA - NDP_000007 - Hatsukawa 2002 - - Germline - - - - - DNA SEQ - - ? - Hatsukawa 2002 - - - - - - - - - 1 Frans Cremers
-?/. - c.132T>C r.(?) p.(Tyr44=) Unknown - likely benign g.43817760A>G - NDP(NM_000266.4):c.132T>C (p.Y44=) - NDP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.134T>A r.(?) p.(Val45Glu) Maternal (confirmed) ACMG pathogenic g.43817758A>T g.43958512A>T NDP c.134T>A, p.V45E - NDP_000106 hemizygous PubMed: Li 2020 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease 6 PubMed: Li 2020 - M - - - - - - - 1 LOVD
+/. 2 c.134T>G r.(?) p.(Val45Gly) Maternal (confirmed) ACMG pathogenic g.43817758A>C g.43958512A>C NDP c.134T>G, p.V45G - NDP_000105 hemizygous PubMed: Li 2020 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease 5 PubMed: Li 2020 - M - - - - - - - 1 LOVD
+/. 2 c.136del r.(?) p.(Asp46Ilefs*58) Parent #1 - pathogenic g.43817757del g.43958511del 136delG - NDP_000008 - PubMed: Schuback 1995 - - Germline - 1/26 cases - - - DNA SEQ - - ND - PubMed: Schuback 1995 - - - - - - - - - 1 Frans Cremers
+/. 3 c.142_145del r.(?) p.(Ile48Valfs*55) Maternal (confirmed) - likely pathogenic g.43817747_43817750del g.43958501_43958504del - - NDP_000072 0/115 controls PubMed: Musada 2016 - - Germline yes 0.009 - - - DNA PCR - - EVR2, EVR;FEVR Family 97 II:2 PubMed: Musada 2016 2 generation family, 1 affected M no India - - - - - 1 Jasmine Chen
+/. - c.148C>G r.(?) p.(His50Asp) Maternal (confirmed) - pathogenic g.43817744G>C g.43958498G>C - - NDP_000071 phenotype less severe in mother, 0/115 controls PubMed: Musada 2016 - - Germline yes 0.027 - - - DNA PCR - direct sequencing EVR2, EVR;FEVR Family 3 II:2 PubMed: Musada 2016 2 generation family, 2 affected (proband and mother) M no India - - - - - 2 Jasmine Chen
+/. - c.148C>G r.(?) p.(His50Asp) Paternal (inferred) - pathogenic g.43817744G>C g.43958498G>C - - NDP_000071 heterozygous in proband, 0/115 controls PubMed: Musada 2016 - - Germline yes 0.027 - - - DNA PCR - direct sequencing EVR2, EVR;FEVR Family 72 IV:1 PubMed: Musada 2016 4 generation family, 3 affected F no India - - - - - 3 Jasmine Chen
+/. - c.148C>G r.(?) p.(His50Asp) Maternal (confirmed) - pathogenic g.43817744G>C g.43958498G>C - - NDP_000071 0/115 controls PubMed: Musada 2016 - - Germline yes 0.027 - - - DNA PCR - direct sequencing EVR2, EVR;FEVR Family 139 II:2 PubMed: Musada 2016 2 generation, 2 affected (1 severe, 1 mild) M no India - - - - - 2 Jasmine Chen
+/. 2 c.158A>G r.(?) p.(Tyr53Cys) Unknown - VUS g.43817734T>C g.43958488T>C - - NDP_000077 - PubMed: Bao 2019 - - Germline yes 0/100 individual controls - - - DNA SEQ-NG-I peripheral blood Sanger sequencing EVR2 FamPatII3 PubMed: Bao 2019 3-generation family, 3 affected (3M), 4 unaffected female carriers M ? (China) Chinese - - - - 3 Dong Sun
+/. 2 c.158A>G r.(?) p.(Tyr53Cys) Maternal (confirmed) - VUS g.43817734T>C g.43958488T>C - - NDP_000077 - PubMed: Bao 2019 - - Germline yes 0/100 individual controls - - - DNA SEQ-NG-I peripheral blood Sanger sequencing EVR2 FamPatII5 PubMed: Bao 2019 brother M ? China Chinese - - - - 1 Dong Sun
+/. 2 c.158A>G r.(?) p.(Tyr53Cys) Maternal (confirmed) - VUS g.43817734T>C g.43958488T>C - - NDP_000077 - PubMed: Bao 2019 - - Germline yes 0/100 individual controls - - - DNA SEQ-NG-I peripheral blood Sanger sequencing EVR2 FamPatIII6 PubMed: Bao 2019 nephew, unaffected carrier mother M ? China Chinese - - - - 1 Dong Sun
+?/. 2 c.158A>G r.(?) p.(Tyr53Cys) Maternal (confirmed) - likely pathogenic g.43817734T>C g.43958488T>C NDP HGNC:7678; NM_000266.3:exon2:c.A158G:p.Y53C;NP_000257.1:p.Tyr53Cys - NDP_000077 hemizygous PubMed: Bao 2019 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing EVR2 II:3 PubMed: Bao 2019 proband's maternal uncle 1 M - China southern Chinese - - - bilateral laser treatment several times 1 LOVD
+?/. 2 c.158A>G r.(?) p.(Tyr53Cys) Maternal (confirmed) - likely pathogenic g.43817734T>C g.43958488T>C NDP HGNC:7678; NM_000266.3:exon2:c.A158G:p.Y53C;NP_000257.1:p.Tyr53Cys - NDP_000077 hemizygous PubMed: Bao 2019 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing EVR2 II:5 PubMed: Bao 2019 proband's maternal uncle 2 M - China southern Chinese - - - - 1 LOVD
+?/. 2 c.158A>G r.(?) p.(Tyr53Cys) Maternal (confirmed) - likely pathogenic g.43817734T>C g.43958488T>C NDP HGNC:7678; NM_000266.3:exon2:c.A158G:p.Y53C;NP_000257.1:p.Tyr53Cys - NDP_000077 hemizygous PubMed: Bao 2019 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing EVR2 III:6 PubMed: Bao 2019 proband M - China southern Chinese - - - - 1 LOVD
+/. 2 c.162G>C r.(?) p.(Lys54Asn) Maternal (confirmed) - pathogenic g.43817730C>G g.43958484C>G - - NDP_000070 0/180 control individuals PubMed: Kondo 2007 - - Germline yes 2/62 probands - - - DNA PCR - direct sequencing EVR2, EVR;FEVR Family 2 III-1 PubMed: Kondo 2007 3 generation family, 1 affected M ? Japan - - - - - 1 Jasmine Chen
+?/. 2 c.162G>C r.(?) p.(Lys54Asn) Unknown - likely pathogenic g.43817730C>G - - - NDP_000070 - PubMed: Boonstra 2009 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Boonstra 2009 - M - - - - - - - 1 LOVD
+?/. - c.162G>C r.(?) p.(Lys54Asn) Maternal (inferred) - likely pathogenic g.43817730C>G g.43958484C>G NDP c.162G>C - NDP_000070 no protein change given, probably hemizygous (gender unknown) PubMed: Zanolli 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 78 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - 1 LOVD
+?/. 2 c.163T>C r.(?) p.(Cys55Arg) Parent #1 - likely pathogenic g.43817729A>G g.43958483A>G - - NDP_000030 - PubMed: Nikopoulos 2010 - - Unknown - 1/46 cases - - - DNA SEQ - - ND - PubMed: Nikopoulos 2010 - - - - - - - - - 1 Frans Cremers
+?/. - c.163T>C r.(?) p.(Cys55Arg) Unknown - likely pathogenic g.43817729A>G g.43958483A>G - - NDP_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.164G>A r.(?) p.(Cys55Tyr) Unknown - likely pathogenic g.43817728C>T g.43958482C>T - - NDP_000050 - PubMed: Yang 2012 - - Germline/De novo (untested) - 0/96 controls - - - DNA SEQ - direct sequencing ND QT686 II:2 PubMed: Yang 2012 2 generation family, 1 affected (isolated) M no China - - - - - 1 Jasmine Chen
+/. - c.164G>T r.(?) p.(Cys55Phe) Maternal (confirmed) - pathogenic (recessive) g.43817728C>A g.43958482C>A - - NDP_000118 - PubMed: Zhao 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES clinical blindness Fam2PatII2 PubMed: Zhao 2022 3-generation family, 3 affected, 2 unaffected carrier females F - China - - - - - 3 Johan den Dunnen
-?/. - c.165T>C r.(?) p.(Cys55=) Unknown - likely benign g.43817727A>G - NDP(NM_000266.3):c.165T>C (p.C55=) - NDP_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.170C>G r.(?) p.(Ser57*) Parent #1 - pathogenic g.43817722G>C g.43958476G>C - - NDP_000009 - Berger 1992 - - Unknown - 1/17 cases - - - DNA SEQ - - ND - Berger 1992 - - - - - - - - - 1 Frans Cremers
+/. - c.170C>G r.(?) p.(Ser57*) Maternal (confirmed) - pathogenic g.43817722G>C g.43958476G>C - - NDP_000009 - PubMed: Musada 2016 - - Germline yes 0.009 - - - DNA PCR - direct sequencing EVR2, EVR;FEVR Family 108 III:2 PubMed: Musada 2016 3 generation family, 2 affected M no India - - - - - 2 Jasmine Chen
?/. 2 c.174G>T r.(?) p.(Lys58Asn) Maternal (confirmed) - VUS g.43817718C>A g.43958472C>A - - NDP_000069 - PubMed: Shastry 1997 - - De novo - 1/41 - - - DNA PCR - direct sequencing EVR2, EVR;FEVR Family 2 III:2 PubMed: Shastry 1997 sporadic M no United States - - - - - 1 Jasmine Chen
+?/. - c.174G>T r.(?) p.(Lys58Asn) Maternal (confirmed) - likely pathogenic g.43817718C>A g.43958472C>A c.174C>A, p.(Lys58Asn) - NDP_000069 error in annotation: c.174C>A instead of G>T, hemizygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13874 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+/. 2i c.175-1G>A r.spl p.? Unknown - pathogenic g.43809273C>T g.43950027C>T - - NDP_000068 0/180 control individuals PubMed: Kondo 2007 - - Germline yes 1/62 probands - - - DNA PCR - direct sequencing EVR2, EVR;FEVR, ND Family 6 III-1 PubMed: Kondo 2007 3 generation, 2 affected M no Japan - - - - - 2 Jasmine Chen
+?/. 2i_3 c.175-1_*1023+1dup r.spl? p.? Maternal (inferred) - likely pathogenic (maternal) g.43808021_43809273dup - E3dup - NDP_000107 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG, PCRq - hereditary eye disease enrichment panel (HEDEP), quantitative fluorescence PCR (QF-PCR) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 3 c.181C>A r.(?) p.(Leu61Ile) Maternal (confirmed) ACMG likely pathogenic g.43809266G>T g.43950020G>T c.181C>A, p.L61I - NDP_000093 - PubMed: Surl 2020 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease 12 PubMed: Li 2018 - M - China - - - - - 1 LOVD
+/. 3 c.181C>A r.(?) p.(Leu61Ile) Maternal (confirmed) ACMG pathogenic g.43809266G>T g.43950020G>T NDP c.181C>A, p.L61I - NDP_000093 hemizygous PubMed: Li 2020 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease 4 PubMed: Li 2020 - M - - - - - - - 1 LOVD
+?/. 3 c.181C>A r.(?) p.(Leu61Ile) Maternal (inferred) - likely pathogenic g.43809266G>T g.43950020G>T NDP c.589C>A, p.Leu61 >lie - NDP_000093 obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous PubMed: Wu 2007 - - Germline yes 0/54 unrelated normal controls - - - DNA SEQ blood - EVR2 5 PubMed: Wu 2007 - M - - - - - - - 1 LOVD
+?/. 3 c.181C>G r.(?) p.(Leu61Val) Unknown - likely pathogenic g.43809266G>C g.43950020G>C NDP 181C?>?G, Leu61Val - NDP_000098 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. - c.181C>T r.(?) p.(Leu61Phe) Unknown - likely pathogenic g.43809266G>A g.43950020G>A c.181G>A, p.(Leu61Phe) - NDP_000099 error in annotation: c.181G>A instead of C>T, hemizygous PubMed: Wang 2019 - - De novo yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13611 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/? 2 c.182T>C r.(?) p.(Leu61Pro) Unknown - likely pathogenic g.43809265A>G g.43950019A>G - - NDP_000038 - PubMed: Romaniello et al. 2012 - - Germline yes 0/500 con - - - DNA PCR, SEQ - - CRMCC, ND - PubMed: Romaniello 2013 - M - (Italy) - >08y - - - 1 Anne Polvi
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.