Full data view for gene NYX

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_022567.2 transcript reference sequence.

311 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     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     
-?/. - c.-45T>G r.(?) p.(=) Unknown - likely benign g.41307098T>G - NYX(NM_001378477.1):c.-41-4T>G - NYX_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.? p.? Unknown ACMG pathogenic g.? - NM_022567.2:c.38_ 1446del - 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.? Unknown - pathogenic g.? - CSNB1A (NYX):p.Trp350X - USP9X_000005 - PubMed: Jacobson 2008 - - Unknown - - - - - DNA ? - Methods described in Aleman 2007, Jacobson 2006, Jacobson 1987 and Roman 2015 retinal disease - PubMed: Jacobson 2008 - M - - - - - - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - CSNB1A (NYX): p.Leu205_Arg207dup - USP9X_000005 - PubMed: Jacobson 2008 - - Unknown - - - - - DNA ? - Methods described in Aleman 2007, Jacobson 2006, Jacobson 1987 and Roman 2016 retinal disease - PubMed: Jacobson 2008 - M - - - - - - - 1 LOVD
+/. 1 c.33del r.(?) p.(His12Metfs*129) Maternal (inferred) - pathogenic g.41307175del - AF254868: del exons 1 and 2 - NYX_000130 - PubMed: Bech Hansen 2000 - - Germline - - - - - DNA PCR, SEQ tissue-specific - retinal disease 2676 PubMed: Bech Hansen 2000 - M - - - - - - - 1 LOVD
+/. 1 c.33del r.(?) p.(His12Metfs*129) Maternal (inferred) - pathogenic g.41307175del - AF254868: del exon 3 and 3´ UTR - NYX_000130 - PubMed: Bech Hansen 2000 - - Germline - - - - - DNA PCR, SEQ tissue-specific - retinal disease 7903 PubMed: Bech Hansen 2000 - M - - - - - - - 1 LOVD
?/. 1i c.37+1G>C r.spl? p.? Parent #1 - VUS g.41307180G>C - c.37+1G>C (Splicing) - NYX_000048 - PubMed: Zito 2003 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Zito 2003 - - - - - - - - - 1 Julia Lopez
?/. 1i c.37+1G>C r.spl? p.? Unknown - VUS g.41307180G>C - AJ278865: c.37+1G>C - NYX_000048 - PubMed: Zeitz-2009 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - - - - 1 LOVD
+?/. - c.38-1_38delinsTT r.spl p.? Maternal (inferred) ACMG likely pathogenic (recessive) g.41332743_41332744delinsTT g.41473490_41473491delinsTT - - NYX_000151 ACMG: PVS1, PM2_SUP - - - Germline - - - - - DNA SEQ-NG-I Blood WES CSNBO1 195271 - - M - Germany - - - - - 1 Andreas Laner
+/. - c.38-1_38delinsTT r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.41332743_41332744delinsTT g.41473490_41473491delinsTT - - NYX_000151 - PubMed: Kim 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CSNB Pat5 PubMed: Kim 2021 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.38-1_38delinsTT r.spl p.(Ala13VafsTer102) Maternal (confirmed) - pathogenic g.41332743_41332744delinsTT g.41473490_41473491delinsTT - - NYX_000151 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat61 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.38-1_1446+1del r.spl? p.? Unknown - pathogenic g.41332743_41334153del - c.38-?_c1446+?del - NYX_000114 - PubMed: Bijveld 2013 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Bijveld-2013 - M - Netherlands Dutch - - - - 1 Julia Lopez
+?/. - c.(37+1_38-1)_(*753_?)del r.spl p.(?) Parent #1 - likely pathogenic g.? g.? NYX, variant 1 :Deletion exon 2 - USP9X_000005 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 380 PubMed: Weisschuh 2020 Filing key number: 126, congenital stationary night blindness, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. 2 c.48_64del r.(?) p.(Leu18Argfs*91) Unknown - VUS g.41332754_41332770del17 - c.48_64del17 (p.Leu18ArgfsX91) - NYX_000081 - PubMed: Zeitz-2009 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - - - - 1 LOVD
?/. 2 c.51_67del r.(?) p.(Leu18Argfs*91) Parent #1 - VUS g.41332757_41332773del - c.48_64del17 (Frameshift) - NYX_000049 - PubMed: Zito 2003 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Zito 2003 - - - - - - - - - 1 Julia Lopez
?/. - c.64T>C r.(?) p.(Trp22Arg) Unknown - VUS g.41332770T>C g.41473517T>C NYX(NM_022567.3):c.49T>C (p.W17R) - NYX_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.65G>A r.(?) p.(Trp22*) Unknown - VUS g.41332771G>A - AJ278865: c.65G>A - NYX_000082 - PubMed: Zeitz-2009 - - Germline - - - - - DNA SEQ, arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - Germany - - - - - 1 LOVD
+?/. - c.85_108del r.(?) p.(Arg29_Ala36del) Maternal (inferred) - likely pathogenic g.41332791_41332814del g.41473538_41473561del - - NYX_000017 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 16001150 PubMed: Taylor 2017 family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.85_108del r.(?) p.(Arg29_Ala36del) Parent #1 - likely pathogenic g.41332791_41332814del g.41473538_41473561del 85_108del24nt - NYX_000017 no genotype reported PubMed: Zeitz 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - United States - - - - - 1 LOVD
?/. 2 c.85_108del r.(?) p.(Arg29_Ala36del) Unknown - pathogenic g.41332791_41332814del24 - c.85_108del24 (p.Arg29_Ala36del) - NYX_000017 - PubMed: Zeitz-2009 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - Canada - - - - - 1 LOVD
+/. 2 c.85_108del r.(?) p.(Arg29_Ala36del) Maternal (inferred) - pathogenic g.41332791_41332814del - AF254868: 85–108del24ntd - NYX_000017 - PubMed: Bech Hansen 2000 - - Germline yes - - - - DNA PCR, SEQ tissue-specific - retinal disease 290 PubMed: Bech Hansen 2000 - M - United States - - - - - 8 LOVD
+/. 2 c.85_108del r.(?) p.(Arg29_Ala36del) Maternal (inferred) - pathogenic g.41332791_41332814del - AF254868: 85–108del24ntd - NYX_000017 - PubMed: Bech Hansen 2000 - - Germline yes - - - - DNA PCR, SEQ tissue-specific - retinal disease 740 PubMed: Bech Hansen 2000 - M - United States - - - - - 1 LOVD
+/. 2 c.85_108del r.(?) p.(Arg29_Ala36del) Maternal (inferred) - pathogenic g.41332791_41332814del - AF254868: 85–108del24ntd - NYX_000017 - PubMed: Bech Hansen 2000 - - Germline yes - - - - DNA PCR, SEQ tissue-specific - retinal disease 830 PubMed: Bech Hansen 2000 - M - United States - - - - - 4 LOVD
+/. 2 c.85_108del r.(?) p.(Arg29_Ala36del) Maternal (inferred) - pathogenic g.41332791_41332814del - AF254868: 85–108del24ntd - NYX_000017 - PubMed: Bech Hansen 2000 - - Germline yes - - - - DNA PCR, SEQ tissue-specific - retinal disease Y1 PubMed: Bech Hansen 2000 Ref.Musarella, M.A. et al. 1989 M - United States - - - - - 8 LOVD
+/. 2 c.85_108del r.(?) p.(Arg29_Ala36del) Maternal (inferred) - pathogenic g.41332791_41332814del - AF254868: 85–108del24ntd - NYX_000017 - PubMed: Bech Hansen 2000 - - Germline yes - - - - DNA PCR, SEQ tissue-specific - retinal disease Y2 PubMed: Bech Hansen 2000 Ref.Musarella, M.A. et al. 1989 M - United States - - - - - 2 LOVD
+/. 2 c.85_108del r.(?) p.(Arg29_Ala36del) Maternal (inferred) - pathogenic g.41332791_41332814del - AF254868: 85–108del24ntd - NYX_000017 - PubMed: Bech Hansen 2000 - - Germline yes - - - - DNA PCR, SEQ tissue-specific - retinal disease Y3 PubMed: Bech Hansen 2000 Ref.Musarella, M.A. et al. 1989 M - United States - - - - - 5 LOVD
+/. 2 c.85_108del r.(?) p.(Arg29_Ala36del) Maternal (inferred) - pathogenic g.41332791_41332814del - AF254868: 85–108del24ntd - NYX_000017 - PubMed: Bech Hansen 2000 - - Germline yes - - - - DNA PCR, SEQ tissue-specific - retinal disease R5c PubMed: Bech Hansen 2000 Ref.Musarella, M.A. et al. 1989 M - United States - - - - - 4 LOVD
+/. - c.85_108del r.(?) p.(Arg29_Ala36del) Maternal (inferred) ACMG pathogenic (recessive) g.41332791_41332814del g.41473538_41473561del - - NYX_000017 ACMG PM2, PM4, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CSNB-144 PubMed: Weisschuh 2024 family, >3 affected M - Germany - - - - - 4 Johan den Dunnen
+/. 2 c.92C>G r.(?) p.? Maternal (inferred) - pathogenic g.41332798C>G - AF254868: 92C?G - NYX_000131 - PubMed: Bech Hansen 2000 - - Germline - - - - - DNA PCR, SEQ tissue-specific - retinal disease B1 PubMed: Bech Hansen 2000 Ref.Musarella, M.A. et al. 1989 M - United States - - - - - 3 LOVD
+?/. - c.92G>A r.(?) p.(Cys31Tyr) Unknown - likely pathogenic g.41332798G>A g.41473545G>A - - NYX_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.92G>A r.(?) p.(Cys31Tyr) Parent #1 - likely pathogenic g.41332798G>A g.41473545G>A - - NYX_000035 no genotype reported PubMed: Zeitz 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - Belgium - - - - - 1 LOVD
+?/. 2 c.92G>A r.(?) p.(Cys31Tyr) Unknown - likely pathogenic g.41332798G>A - c.92G>A - NYX_000035 - PubMed: Wang-2012 - - Germline - 0/96 controls - - - DNA SEQ blood - retinal disease - PubMed: Wang-2012 - M - China - - - - - 1 LOVD
?/. 2 c.92G>A r.(?) p.(Cys31Tyr) Paternal (confirmed) - VUS g.41332798G>A - c.92G>A - NYX_000035 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
?/. 2 c.92G>C r.(?) p.(Cys31Ser) Unknown - VUS g.41332798G>C - AJ278865: c.92G>C - NYX_000083 - PubMed: Zeitz-2009 - - Germline - - - - - DNA SEQ, arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - Netherlands - - - - - 1 LOVD
+/. 2 c.92G>C r.(?) p.(Cys31Ser) Unknown - pathogenic g.41332798G>C - AJ278865: 91G?C - NYX_000083 - PubMed: Pusch 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ tissues, blood - retinal disease 2438B PubMed: Pusch 2000 - - - Sweden - - - - - 1 LOVD
+/. 2 c.92G>C r.(?) p.(Cys31Ser) Unknown - pathogenic g.41332798G>C - AJ278865: 91G?C - NYX_000083 - PubMed: Pusch 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ tissues, blood - retinal disease 5886 PubMed: Pusch 2000 - - - Sweden - - - - - 1 LOVD
+/. 2 c.92G>C r.(?) p.(Cys31Ser) Unknown - pathogenic g.41332798G>C - AJ278865: 91G?C - NYX_000083 - PubMed: Pusch 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ tissues, blood - retinal disease 5884 PubMed: Pusch 2000 - - - Sweden - - - - - 1 LOVD
?/. 2 c.105C>A r.(?) p.(Cys35*) Unknown - VUS g.41332811C>A - AJ278865: c.105C>A - NYX_000084 - PubMed: Zeitz-2009 - - Germline - - - - - DNA SEQ, arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - Germany - - - - - 1 LOVD
+/. 2 c.105C>A r.(?) p.(Cys35*) Unknown - pathogenic g.41332811C>A - AJ278865: 105C?A - NYX_000084 - PubMed: Pusch 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ tissues, blood - retinal disease 9606 PubMed: Pusch 2000 - - - - - - - - - 1 LOVD
+/. 2 c.105C>A r.(?) p.(Cys35*) Unknown - pathogenic g.41332811C>A - AJ278865: 105C?A - NYX_000084 - PubMed: Pusch 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ tissues, blood - retinal disease 2438T PubMed: Pusch 2000 - - - - - - - - - 1 LOVD
+?/. - c.106_111del r.(?) p.(Ala36_Cys37del) Maternal (inferred) - likely pathogenic g.41332812_41332817del g.41473559_41473564del - - NYX_000057 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11010142 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.106_111del r.(?) p.(Ala36_Cys37del) Parent #1 - VUS g.41332812_41332817del g.41473559_41473564del - - NYX_000057 no genotypes reported PubMed: Sergouniotis 2016 - - Germline - 1/486 individuals - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 2 c.121del r.(?) p.(Glu41Serfs*100) Maternal (confirmed) - pathogenic g.41332827del - c.121delG - NYX_000141 - PubMed: 48_Zhou-2015 - - Unknown yes 0/96 normal controls - - - DNA SEQ, PCR blood - retinal disease F2:II1 PubMed: 48_Zhou-2015 - M ? China Chinese - - - - 1 LOVD
?/. 2 c.134C>T r.(?) p.(Ser45Leu) Paternal (confirmed) - VUS g.41332840C>T - c.134C>T - NYX_000162 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. - c.137T>G r.(?) p.(Val46Gly) Parent #1 - likely pathogenic g.41332843T>G g.41473590T>G - - NYX_000067 no genotype reported PubMed: Zeitz 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - United States - - - - - 1 LOVD
+?/. - c.140G>C r.(?) p.(Arg47Pro) Parent #1 - likely pathogenic g.41332846G>C g.41473593G>C - - NYX_000068 no genotype reported PubMed: Zeitz 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - France - - - - - 1 LOVD
?/. 2 c.143G>A r.(?) p.(Cys48Tyr) Unknown - VUS g.41332849G>A - AJ278865: c.143G>A - NYX_000085 - PubMed: Zeitz-2009 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - - - - 1 LOVD
?/. 2 c.143G>A r.(?) p.(Cys48Tyr) Unknown - VUS g.41332849G>A - AJ278865: c.143G>A - NYX_000085 - PubMed: Zeitz-2009 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - Switzerland - - - - - 1 LOVD
+/. 2 c.144C>G r.(?) p.(Cys48Trp) Maternal (inferred) - pathogenic g.41332850C>G - c.144C>G - NYX_000132 - PubMed: Zhang 2007 - - Germline - - - - - DNA SEQ, PCR - - retinal disease F-A, III:1 PubMed: Zhang 2007 novo c.144C>G, p.Cys48Trp. His parents had. Neither myopia nor CSNB M - - - - - - - 1 LOVD
+?/. 2 c.149G>C r.(?) p.(Arg50Pro) Unknown - likely pathogenic g.41332855G>C - c.149G>C - NYX_000110 - PubMed: Wang-2012 - - Germline - 0/96 controls - - - DNA SEQ blood - retinal disease - PubMed: Wang-2012 - M - China - - - - - 1 LOVD
+?/. 2 c.169C>A r.(?) p.(Pro57Thr) Parent #1 - likely pathogenic g.41332875C>A - AJ278865: 169C>A (P57T) - NYX_000055 - PubMed: Zeitz 2005 - - Germline - - - - - DNA DHPLC, SSCA, SEQ blood - retinal disease - PubMed: Zeitz 2005 - - - Netherlands Dutch - - - - 1 Julia Lopez
?/. 2 c.169C>A r.(?) p.(Pro57Thr) Unknown - VUS g.41332875C>A - AJ278865: c.169C>A - NYX_000055 - PubMed: Zeitz-2009 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - - - - 1 LOVD
+/. - c.182_183insT r.(?) p.(Cys62ValfsTer53) Maternal (confirmed) - pathogenic (recessive) g.41332888_41332889insT g.41473635_41473636insT - - NYX_000164 - PubMed: Kim 2021, PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CSNB Pat4;Pat60 PubMed: Kim 2021, PubMed: Moon 2021 - M - Korea - - - - - 1 Johan den Dunnen
?/. 2 c.187G>T r.(?) p.(Glu63*) Unknown - VUS g.41332893G>T - c.187 G>T (p.Glu63Stop) - NYX_000086 - PubMed: Zeitz-2009 - - Germline - - - - - DNA SEQ, arraySEQ - - retinal disease - PubMed: Zeitz-2009 mother het - - Germany - - - - - 1 LOVD
+?/. 2 c.191C>A r.(?) p.(Ala64Glu) Parent #1 - likely pathogenic g.41332897C>A - AJ278865: 191C>A (A64E) - NYX_000056 - PubMed: Zeitz 2005 - - Germline - - - - - DNA DHPLC, SSCA, SEQ blood - retinal disease - PubMed: Zeitz 2005 - - - Netherlands Dutch - - - - 1 Julia Lopez
?/. 2 c.191C>A r.(?) p.(Ala64Glu) Unknown - VUS g.41332897C>A - AJ278865: c.191C>A - NYX_000056 - PubMed: Zeitz-2009 - - Germline - - - - - DNA SEQ, arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - Netherlands - - - - - 1 LOVD
+?/. - c.212G>C r.(?) p.(Arg71Pro) Maternal (inferred) - likely pathogenic g.41332918G>C g.41473665G>C - - NYX_000058 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 16004896 PubMed: Taylor 2017 family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 2 c.214A>C r.(?) p.(Asn72His) Maternal (confirmed) - pathogenic g.41332920A>C - c.214A>C - NYX_000142 - PubMed: 941_Dai-2015 - - Germline - 0/100 normal controls - - - DNA SEQ, PCR blood - retinal disease F-CSNB-02,P- III:1 PubMed: 941_Dai-2015 affected patient M ? China Chinese - - - - 1 LOVD
+/. 2 c.214A>C r.(?) p.(Asn72His) Unknown - pathogenic g.41332920A>C - c.214A>C - NYX_000142 - PubMed: 941_Dai-2015 - - Germline - 0/100 normal controls - - - DNA SEQ, PCR blood - Healthy/Control F-CSNB-02,P- III:2 PubMed: 941_Dai-2015 carrier F ? China Chinese - - - - 1 LOVD
+/. 2 c.214A>C r.(?) p.(Asn72His) Maternal (confirmed) - pathogenic g.41332920A>C - c.214A>C - NYX_000142 - PubMed: 941_Dai-2015 - - Germline - 0/100 normal controls - - - DNA SEQ, PCR blood - retinal disease F-CSNB-02,P- IV:1 PubMed: 941_Dai-2015 affected patient M ? China Chinese - - - - 1 LOVD
+/. 2 c.214A>C r.(?) p.(Asn72His) Maternal (inferred) - pathogenic g.41332920A>C - c.214A>C - NYX_000142 - PubMed: 941_Dai-2015 - - Germline - 0/100 normal controls - - - DNA SEQ, PCR blood - retinal disease F-CSNB-02,P- II:3 PubMed: 941_Dai-2015 affected patient M ? China Chinese - - - - 1 LOVD
+/. 2 c.214A>C r.(?) p.(Asn72His) Maternal (inferred) - pathogenic g.41332920A>C - c.214A>C - NYX_000142 - PubMed: 941_Dai-2015 - - Germline - 0/100 normal controls - - - DNA SEQ, PCR blood - retinal disease F-CSNB-02,P- II:4 PubMed: 941_Dai-2015 affected patient M ? China Chinese - - - - 1 LOVD
+/. 2 c.214A>C r.(?) p.(Asn72His) Maternal (inferred) - pathogenic g.41332920A>C - c.214A>C - NYX_000142 - PubMed: 941_Dai-2015 - - Germline - 0/100 normal controls - - - DNA SEQ, PCR blood - retinal disease F-CSNB-02,P- II:5 PubMed: 941_Dai-2015 affected patient M ? China Chinese - - - - 1 LOVD
+/. 2 c.214A>C r.(?) p.(Asn72His) Maternal (inferred) - pathogenic g.41332920A>C - c.214A>C - NYX_000142 - PubMed: 941_Dai-2015 - - Germline - 0/100 normal controls - - - DNA SEQ, PCR blood - retinal disease F-CSNB-02,P- III:4 PubMed: 941_Dai-2015 affected patient M ? China Chinese - - - - 1 LOVD
+?/. - c.216C>G r.(?) p.(Asn72Lys) Maternal (inferred) - likely pathogenic g.41332922C>G g.41473669C>G - - NYX_000059 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 14002270 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
-/. - c.222G>A r.(?) p.(Leu74=) Unknown - benign g.41332928G>A g.41473675G>A NYX(NM_022567.2):c.222G>A (p.L74=) - NYX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.263T>G r.(?) p.(Leu88Trp) Unknown - likely pathogenic g.41332969T>G g.41473716T>G NYX(NM_022567.3):c.248T>G (p.L83W) - NYX_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.272T>A r.(?) p.(Leu91Gln) Maternal (inferred) - likely pathogenic g.41332978T>A - c.[272T>A;1429G>C] - NYX_000111 - PubMed: Wang-2012 - - Germline yes 0/96 controls - - - DNA SEQ blood - retinal disease - PubMed: Wang-2012 - M - China - - - - - 1 LOVD
?/. 2 c.281G>C r.(?) p.(Arg94Pro) Unknown - VUS g.41332987G>C - AJ278865: c.281G>C - NYX_000087 - PubMed: Zeitz-2009 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Maternal (inferred) - pathogenic g.41332987G>C - AF254868: 452C?T - NYX_000087 - PubMed: Bech Hansen 2000 - - Germline - - - - - DNA PCR, SEQ tissue-specific - retinal disease P23.340 PubMed: Bech Hansen 2000 Ref.Bergen, A.A.B.. 1995 M no Netherlands - - - - - 2 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Unknown - pathogenic g.41332987G>C - AJ278865: 340–354del15bp - NYX_000087 - PubMed: Pusch 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ tissues, blood - retinal disease 5387 PubMed: Pusch 2000 - - - - - - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Unknown - pathogenic g.41332987G>C - AJ278865: 427G?C - NYX_000087 - PubMed: Pusch 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ tissues, blood - retinal disease 5883 PubMed: Pusch 2000 - - - - - - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Unknown - pathogenic g.41332987G>C - AJ278865: 524C?G - NYX_000087 - PubMed: Pusch 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ tissues, blood - retinal disease 2675 PubMed: Pusch 2000 - - - - - - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Unknown - pathogenic g.41332987G>C - AJ278865: 524C?G - NYX_000087 - PubMed: Pusch 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ tissues, blood - retinal disease 5653 PubMed: Pusch 2000 - - - - - - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Unknown - pathogenic g.41332987G>C - AJ278865: 524C?G - NYX_000087 - PubMed: Pusch 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ tissues, blood - retinal disease 2996 PubMed: Pusch 2000 - - - - - - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Maternal (inferred) - pathogenic g.41332987G>C - c.281G>C - NYX_000087 - PubMed: Xiao 2006 - - Germline yes 0/96 controls - - - DNA SEQ - - retinal disease F-A, IV1 PubMed: Xiao 2006 novel mutation M - China chinese - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Unknown - pathogenic g.41332987G>C - c.281G>C - NYX_000087 - PubMed: Xiao 2006 - - Germline yes 0/96 controls - - - DNA SEQ - - retinal disease F-A, IV2 PubMed: Xiao 2006 carrier, novel mutation F - China chinese - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Unknown - pathogenic g.41332987G>C - c.281G>C - NYX_000087 - PubMed: Xiao 2006 - - Germline yes 0/96 controls - - - DNA SEQ - - retinal disease F-A, IV7 PubMed: Xiao 2006 carrier, novel mutation F - China chinese - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Unknown - pathogenic g.41332987G>C - c.281G>C - NYX_000087 - PubMed: Xiao 2006 - - Germline yes 0/96 controls - - - DNA SEQ - - retinal disease F-A, IV9 PubMed: Xiao 2006 carrier, novel mutation F - China chinese - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Unknown - pathogenic g.41332987G>C - c.281G>C - NYX_000087 - PubMed: Xiao 2006 - - Germline yes 0/96 controls - - - DNA SEQ - - retinal disease F-A, V1 PubMed: Xiao 2006 carrier, novel mutation F - China chinese - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Unknown - pathogenic g.41332987G>C - c.281G>C - NYX_000087 - PubMed: Xiao 2006 - - Germline yes 0/96 controls - - - DNA SEQ - - retinal disease F-A, V3 PubMed: Xiao 2006 carrier, novel mutation F - China chinese - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Maternal (inferred) - pathogenic g.41332987G>C - c.281G>C - NYX_000087 - PubMed: Xiao 2006 - - Germline yes 0/96 controls - - - DNA SEQ - - retinal disease F-A, V5 PubMed: Xiao 2006 novel mutation M - China chinese - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Unknown - pathogenic g.41332987G>C - c.281G>C - NYX_000087 - PubMed: Xiao 2006 - - Germline yes 0/96 controls - - - DNA SEQ - - retinal disease F-A,V7 PubMed: Xiao 2006 carrier, novel mutation F - China chinese - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Maternal (inferred) - pathogenic g.41332987G>C - c.281G>C - NYX_000087 - PubMed: Xiao 2006 - - Germline yes 0/96 controls - - - DNA SEQ - - retinal disease F-A,V8 PubMed: Xiao 2006 novel mutation M - China chinese - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Maternal (inferred) - pathogenic g.41332987G>C - c.281G>C - NYX_000087 - PubMed: Xiao 2006 - - Germline yes 0/96 controls - - - DNA SEQ - - retinal disease F-A, V10 PubMed: Xiao 2006 novel mutation M - China chinese - - - - 1 LOVD
+/. 2 c.281G>C r.(?) p.(Arg94Pro) Maternal (inferred) - pathogenic g.41332987G>C - c.281G>C - NYX_000087 - PubMed: Xiao 2006 - - Germline yes 0/96 controls - - - DNA SEQ - - retinal disease F-A, V:I2 PubMed: Xiao 2006 novel mutation M - China chinese - - - - 1 LOVD
+?/. 2 c.281G>C r.(?) p.(Arg94Pro) Maternal (inferred) - likely pathogenic g.41332987G>C - c.425T>G - NYX_000087 - PubMed: dhan 2011 - - Germline yes - - - - DNA SEQ, PCR blood - retinal disease II: 1 PubMed: dhan 2011 affected maternal grandfather M - New Zealand Caucasian - - - - 1 LOVD
+?/. 2 c.281G>C r.(?) p.(Arg94Pro) Unknown - likely pathogenic g.41332987G>C - c.425T>G - NYX_000087 - PubMed: dhan 2011 - - Germline yes - - - - DNA SEQ, PCR blood - retinal disease III: 1 PubMed: dhan 2011 obligate carrier mother F - New Zealand Caucasian - - - - 1 LOVD
+?/. 2 c.281G>C r.(?) p.(Arg94Pro) Unknown - likely pathogenic g.41332987G>C - c.425T>G - NYX_000087 - PubMed: dhan 2011 - - Germline yes - - - - DNA SEQ, PCR blood - retinal disease III: 2 PubMed: dhan 2011 obligate carrier aunt F - New Zealand Caucasian - - - - 1 LOVD
+?/. 2 c.281G>C r.(?) p.(Arg94Pro) Maternal (inferred) - likely pathogenic g.41332987G>C - c.425T>G - NYX_000087 - PubMed: dhan 2011 - rs3013121 Germline yes - - - - DNA SEQ, PCR blood - retinal disease IV: 2 PubMed: dhan 2011 proband M - New Zealand Caucasian - - - - 1 LOVD
+/. 2 c.283del r.(?) p.(His95Thrfs*46) Maternal (confirmed) - pathogenic g.41332989del - c.283delC - NYX_000143 - PubMed: 698_Ivanova-2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease V:4 PubMed: 698_Ivanova-2019 - M ? Russia Russian - - - - 1 LOVD
+/. 2 c.283del r.(?) p.(His95Thrfs*46) Maternal (confirmed) - pathogenic g.41332989del - c.283delC - NYX_000143 - PubMed: 698_Ivanova-2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease V:2 PubMed: 698_Ivanova-2019 older brother of proband M ? Russia Russian - - - - 1 LOVD
+/. 2 c.283del r.(?) p.(His95Thrfs*46) Unknown - pathogenic g.41332989del - c.283delC - NYX_000143 - PubMed: 698_Ivanova-2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - Healthy/Control IV:7 PubMed: 698_Ivanova-2019 carrier F ? Russia Russian - - - - 1 LOVD
+/. 2 c.283del r.(?) p.(His95Thrfs*46) Maternal (confirmed) - pathogenic g.41332989del - c.283delC - NYX_000143 - PubMed: 698_Ivanova-2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease IV:2 PubMed: 698_Ivanova-2019 proband’s uncle M ? Russia Russian - - - - 1 LOVD
+/. 2 c.293T>A r.(?) p.(Leu98Gln) Unknown - pathogenic g.41332999T>A - c.293T>A - NYX_000115 - PubMed: Bijveld 2013 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Bijveld-2013 - M - Netherlands Dutch - - - - 1 Julia Lopez
+?/. 2 c.293T>C r.(?) p.(Leu98Pro) Unknown - likely pathogenic g.41332999T>C - c.293T>C (p.Leu98Pro) - NYX_000109 - PubMed: Simonsz-2009 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Simonsz-2009 - M - Netherlands - - - - - 1 LOVD
?/. 2 c.302T>C r.(?) p.(Ile101Thr) Unknown - VUS g.41333008T>C - AJ278865: c.302T>C - NYX_000088 - PubMed: Zeitz-2009 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - - - - 1 LOVD
+/. 2 c.302T>C r.(?) p.(Ile101Thr) Maternal (inferred) - pathogenic g.41333008T>C - AF254868: 551T?C - NYX_000088 - PubMed: Bech Hansen 2000 - - Germline - - - - - DNA PCR, SEQ tissue-specific - retinal disease 780 PubMed: Bech Hansen 2000 - M - - - - - - - 1 LOVD
+/. 2 c.302T>C r.(?) p.(Ile101Thr) Unknown - pathogenic g.41333008T>C - AJ278865: 559-560GC?AA - NYX_000088 - PubMed: Pusch 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ tissues, blood - retinal disease 9069 PubMed: Pusch 2000 - - - - - - - - - 1 LOVD
+/. 2 c.302T>C r.(?) p.(Ile101Thr) Maternal (inferred) - pathogenic g.41333008T>C - c.302T>C - NYX_000088 - PubMed: Xiao 2006 - - Germline yes 0/96 controls - - - DNA SEQ - - retinal disease F-B, III2 PubMed: Xiao 2006 novel mutation M - China chinese - - - - 1 LOVD
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »


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