Full data view for gene NPHP1

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

288 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     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

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VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

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Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.(?_-94)_(*455_?) r.0 p.0 Unknown - likely pathogenic g.? g.? common NPHP1 deletion - SNRNP200_000007 - PubMed: Brooks 2018 RCV000003688.3 - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 438 PubMed: Brooks 2018 family 66 M - United States - - - - - 1 LOVD
+?/. - c.(?_-94)_(*455_?) r.0 p.0 Unknown - likely pathogenic g.? g.? common NPHP1 deletion - SNRNP200_000007 - PubMed: Brooks 2018 RCV000003688.3 - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 463 PubMed: Brooks 2018 family 67 F - United States - - - - - 1 LOVD
+?/. - c.(?_-94)_(*455_?) r.0 p.0 Unknown - likely pathogenic g.? g.? common NPHP1 deletion - SNRNP200_000007 - PubMed: Brooks 2018 RCV000003688.3 - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 462 PubMed: Brooks 2018 family 67 M - United States - - - - - 1 LOVD
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW019-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW023-1 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW229-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW247-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW264-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - NPHP1Del NA p.? Both (homozygous) - pathogenic (recessive) g.? - - - SNRNP200_000007 - PubMed: Srour 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES JBTS Fam604Pat1712,604 PubMed: Srour 2015 - F - Canada French-Canadian - - - - 1 LOVD
+/. - c.-4984_*5679del r.0? p.0? Both (homozygous) - pathogenic g.110875689_110967529del - del whole gene - NPHP1_000081 91,840 bp deletion PubMed: Lindstrand 2016 - - Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS RC2-0311 PubMed: Lindstrand 2016 - M yes United States - - - - - 1 LOVD
+/. - c.-4984_*5679del r.0? p.0? Maternal (confirmed) - pathogenic g.110875689_110967529del - del whole gene - NPHP1_000081 91,840 bp deletion PubMed: Lindstrand 2016 - - Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR704-0311 PubMed: Lindstrand 2016 - F no United States - - - - - 1 LOVD
+/. - c.-4984_*5679del r.0? p.0? Maternal (confirmed) - pathogenic g.110875689_110967529del - del whole gene - NPHP1_000081 91,840 bp deletion PubMed: Lindstrand 2016 - - Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS 44/311 PubMed: Lindstrand 2016 - M no United States - - - - - 1 LOVD
+?/. - c.(?_-215)_(*582_?)del r.0 p.0 Both (homozygous) - likely pathogenic g.? g.? - - SNRNP200_000007 NPHP1 deletion PubMed: Hussain 2018 - - Germline/De novo (untested) ? - - - - DNA PCR, SEQ blood - retinal disease N1 PubMed: Hussain 2018 - ? - Pakistan - - - - - 1 LOVD
+?/. - c.(?_-215)_(*582_?)del r.0 p.0 Both (homozygous) - likely pathogenic g.? g.? - - SNRNP200_000007 NPHP1 deletion PubMed: Hussain 2018 - - Germline/De novo (untested) ? - - - - DNA PCR, SEQ blood - retinal disease N3 PubMed: Hussain 2018 - ? - Pakistan - - - - - 1 LOVD
+?/. - c.(?_-215)_(*582_?)del r.0 p.0 Both (homozygous) - likely pathogenic g.? g.? - - SNRNP200_000007 NPHP1 deletion PubMed: Hussain 2018 - - Germline/De novo (untested) ? - - - - DNA PCR, SEQ blood - retinal disease N4 PubMed: Hussain 2018 - ? - Pakistan - - - - - 1 LOVD
+?/. - c.(?_-215)_(*582_?)del r.0 p.0 Both (homozygous) - likely pathogenic g.? g.? - - SNRNP200_000007 NPHP1 deletion PubMed: Hussain 2018 - - Germline/De novo (untested) ? - - - - DNA PCR, SEQ blood - retinal disease N7 PubMed: Hussain 2018 - ? - Pakistan - - - - - 1 LOVD
+?/. - c.(?_-215)_(*582_?)del r.0 p.0 Both (homozygous) - likely pathogenic g.? g.? - - SNRNP200_000007 NPHP1 deletion PubMed: Hussain 2018 - - Germline/De novo (untested) ? - - - - DNA PCR, SEQ blood - retinal disease N8 PubMed: Hussain 2018 - ? - Pakistan - - - - - 1 LOVD
+?/. - c.(?_-215)_(*582_?)del r.0 p.0 Both (homozygous) - likely pathogenic g.? g.? - - SNRNP200_000007 NPHP1 deletion PubMed: Hussain 2018 - - Germline/De novo (untested) ? - - - - DNA PCR, SEQ blood - retinal disease N13 PubMed: Hussain 2018 - ? - Pakistan - - - - - 1 LOVD
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - - France French - - - - 1 Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - - France French - - - - 1 Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - - France French - - - - 1 Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - - France French - - - - 1 Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - - France French - - - - 1 Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - yes Morocco - - - - - 1 Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - - France - - - - - 1 Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - - France - - - - - 1 Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - - France - - - - - 1 Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - yes Senegal - - - - - 1 Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - - - - - - - - 1 Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - - France - - - - - 1 Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - - - - - - - - 1 Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? Parent #1 - likely pathogenic (recessive) g.110880913_110962639del - Del, hetc.1027 G>A, het. - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - - France - - - - - 1 Julia Lopez
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic (dominant) g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - - Germline - - - - - DNA SEQ-NG-I - gene panel PKD P46 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - 1 Intisar Al Alawi
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic (dominant) g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - - Germline - - - - - DNA SEQ-NG-I - gene panel PKD P48 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - M - Oman - - - - - 1 Intisar Al Alawi
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic (dominant) g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - - Germline - - - - - DNA SEQ-NG-I - gene panel PKD P50 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - 1 Intisar Al Alawi
+?/. 1_20 c.0 r.0 p.0 Both (homozygous) - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease RC2-03 PubMed: Lindstrand-2014 - M - - Latino - - - - 1 LOVD
+?/. 1_20 c.0 r.0 p.0 Unknown - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease AR704-03 PubMed: Lindstrand-2014 - F - - N.European - - - - 1 LOVD
+?/. 1_20 c.0 r.0 p.0 Unknown - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease AR704-04 PubMed: Lindstrand-2014 - F - - N.European - - - - 1 LOVD
+?/. 1_20 c.0 r.0 p.0 Unknown - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease 44/3 PubMed: Lindstrand-2014 - M - Israel Israeli - - - - 1 LOVD
+?/. 1_20 c.0 r.0 p.0 Unknown - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease 44/4 PubMed: Lindstrand-2014 - F - Israel Israeli - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Both (homozygous) - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - DNA ? - - NPHP1 F10 PubMed: Javorszky 2017 family 10 - - - - - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Both (homozygous) - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - DNA ? - - NPHP1 F12 PubMed: Javorszky 2017 family 12 - - - - - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Both (homozygous) - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - DNA ? - - NPHP1 F15 PubMed: Javorszky 2017 family 15 - - - - - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Both (homozygous) - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - DNA ? - - NPHP1 F63 PubMed: Javorszky 2017 family 63 - - - - - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Both (homozygous) - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - DNA ? - - NPHP1 F67 PubMed: Javorszky 2017 family 67 - - - - - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Both (homozygous) - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - DNA ? - - NPHP1 F70 PubMed: Javorszky 2017 family 70 - - - - - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 maternal allele, heterozygous PubMed: Javorszky 2017 - - Germline yes - - - - DNA ? - - NPHP1 F84 PubMed: Javorszky 2017 family 84 - - - - - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Both (homozygous) - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - DNA ? - - NPHP1 F97 PubMed: Javorszky 2017 family 97 - - - - - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Both (homozygous) - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - DNA ? - - NPHP1 F158 PubMed: Javorszky 2017 family 158 - - - - - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - DNA ? - - NPHP1 F36 PubMed: Javorszky 2017 family 36 - - - - - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - DNA ? - - NPHP1 F38 PubMed: Javorszky 2017 family 38 - - - - - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Unknown - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - DNA ? - - NPHP1 F249 PubMed: Javorszky 2017 family 249 - - - - - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - DNA ? - - NPHP1 F106 PubMed: Javorszky 2017 family 106 - - - - - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Paternal (confirmed) - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - DNA ? - - NPHP1 F203 PubMed: Javorszky 2017 family 203 - - - - - - - - 1 LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 Unknown - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 de novo allele, heterozygous PubMed: Javorszky 2017 - - De novo yes - - - - DNA ? - - NPHP1 F84 PubMed: Javorszky 2017 family 84 - - - - - - - - 1 LOVD
+/. _1_20_ c.(?_-1)_(*1_?)del r.? p.? Both (homozygous) - pathogenic g.(?_110881368)_(110962545_?)del - chr2:110881368-?_110962545+?del - NPHP1_000088 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5367 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. 1_20 c.-94_*455{2} r.? p.? Unknown - likely benign g.(?_110881363)_(110962550_?)dup - chr2:110881363–110962550dup - NPHP1_000099 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 14015751 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. 1_20 c.-94_*455{2} r.? p.? Unknown - likely benign g.(?_110881363)_(110962550_?)dup - chr2:110881363–110962550dup - NPHP1_000099 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 14018818 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. 1_20 c.-94_*455{2} r.? p.? Unknown - likely benign g.(?_110881363)_(110962550_?)dup - chr2:110881363–110962550dup - NPHP1_000099 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 15008560 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. _1_20_ c.-94_*455{0} r.0? p.0? Unknown - likely pathogenic g.(?_110881363)_(110962550_?)del - chr2:110881363–110962550del - NPHP1_000098 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 14009753 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.0 NA p.? Unknown - pathogenic (recessive) g.? - - - SNRNP200_000007 - PubMed: Srour 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES JBTS Fam476Pat1310,476 PubMed: Srour 2015 - M - Canada French-Canadian - - - - 1 LOVD
?/. - c.0 r.0 p.0 Both (homozygous) - VUS g.? - complete deletion of the NPHP1 gene - SNRNP200_000007 - PubMed: Bifari 2015 - - Germline - - - - - DNA SEQ-NG, SEQ blood - retinal disease - PubMed: Bifari 2015 Excels in school M yes Saudi Arabia Saudi - - - - 1 LOVD
+/. - c.0 r.0 p.0 Unknown - pathogenic g.? - Wholegenedeletion - SNRNP200_000007 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG, arrayCGH, SEQ blood - retinal disease 5 PubMed: Wang 2016 - F - United States - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g,? NPHP1 Total deletion (Hom) - NPHP1_000075 homozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-104 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+/. - c.0 r.(?) p.0 Unknown - pathogenic g.? g,? NPHP1 Total deletion - NPHP1_000075 heterozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-39 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g,? NPHP1 Total deletion (Hom) - NPHP1_000075 homozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-57 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g,? NPHP1 Total deletion (Hom) - NPHP1_000075 homozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-92 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g,? NPHP1 Total deletion (Hom) - NPHP1_000075 homozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease K-1 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.0 r.0 p.0 Both (homozygous) - likely pathogenic g.? g.? NPHP1 total deletion - SNRNP200_000007 homozygous PubMed: Betz 2000 - - Germline yes - - - - DNA PCR, SEQ - - NPHP1 Patient 1 PubMed: Betz 2000 family F410, proband M - - - - - - - 1 LOVD
+?/. - c.0 r.0 p.0 Paternal (confirmed) - likely pathogenic g.? g.? NPHP1 total deletion - SNRNP200_000007 heterozygous PubMed: Betz 2000 - - Germline yes - - - - DNA PCR, SSCA, SEQ - - NPHP1 Patient 2 PubMed: Betz 2000 family F232, proband M - - - - - - - 1 LOVD
+?/. - c.0 r.0 p.0 Both (homozygous) - likely pathogenic g.? g.? NPHP1 total deletion - SNRNP200_000007 homozygous PubMed: Takano 2002 - - Germline yes - - - - DNA PCR blood - NPHP1 ? PubMed: Takano 2002 - M - - - - - - - 1 LOVD
+?/. - c.0 r.0 p.0 Both (homozygous) - likely pathogenic g.? g.? deletion including LOC205251, NPHP1, and all but the 3 portion of the BENE gene - SNRNP200_000007 homozygous PubMed: Parisi 2004 - - Germline yes - - - - DNA PCR blood - JBTS4 K76-1 PubMed: Parisi 2004 - F - - - - - - - 1 LOVD
+?/. - c.0 r.0 p.0 Both (homozygous) - likely pathogenic g.? g.? deletion including LOC205251, NPHP1, and all but the 3 portion of the BENE gene - SNRNP200_000007 homozygous PubMed: Parisi 2004 - - Germline yes - - - - DNA PCR blood - JBTS4 K76-2 PubMed: Parisi 2004 - F - - - - - - - 1 LOVD
+?/. - c.0 r.0 p.0 Both (homozygous) - likely pathogenic g.? g.? deletion including LOC205251, NPHP1, and all but the 3 portion of the BENE gene - SNRNP200_000007 homozygous PubMed: Parisi 2004 - - Germline yes - - - - DNA PCR blood - JBTS4 K84-1 PubMed: Parisi 2004 - M - - - - - - - 1 LOVD
+?/. - c.0 r.0 p.0 Parent #1 - likely pathogenic g.? g.? deletion including LOC205251, NPHP1, and all but the 3 portion of the BENE gene - SNRNP200_000007 homozygous PubMed: Parisi 2004 - - Germline yes - - - - DNA PCR blood - JBTS4 K89-1 PubMed: Parisi 2004 - M - - - - - - - 1 LOVD
+?/. - c.0 r.0 p.0 Both (homozygous) - likely pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Castori 2005 - - Germline ? 1 in 40 tested Joubert syndrome probands - - - DNA PCR blood - JBTS4 ? PubMed: Castori 2005 - F no - Italian - - - - 1 LOVD
+/. - c.0 r.(?) p.0 Paternal (confirmed) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 heterozygous PubMed: Caridi 2006 - - Germline yes 1 in 40 tested Joubert syndrome probands - - - DNA PCR blood - JBTS4 13 PubMed: Caridi 2006 - F - Italy Italian - - - - 1 LOVD
+/. - c.0 r.(?) p.0 Maternal (confirmed) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 heterozygous PubMed: Caridi 2006 - - Germline yes 1 in 40 tested Joubert syndrome probands - - - DNA PCR blood - JBTS4 - PubMed: Caridi 2006 - F - Italy Italian - - - - 1 LOVD
+/. - c.0 r.(?) p.0 Parent #2 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 heterozygous PubMed: Caridi 2006 - - Germline yes 1 in 40 tested Joubert syndrome probands - - - DNA PCR blood - JBTS4 - PubMed: Caridi 2006 - - - Italy Italian - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Bollee 2006 - - Germline yes - - - - DNA PCR blood - NPHP1 Patient 1 PubMed: Bollee 2006 - M - - - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Bollee 2006 - - Germline yes - - - - DNA PCR blood - NPHP1 Patient 2 PubMed: Bollee 2006 - F - - - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Bollee 2006 - - Germline yes - - - - DNA PCR blood - NPHP1 Patient 3 PubMed: Bollee 2006 sister of patient 4 F - - - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Bollee 2006 - - Germline yes - - - - DNA PCR blood - NPHP1 Patient 4 PubMed: Bollee 2006 brother of patient 3 M - - - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Sellami 2006 - - Germline yes - - - - DNA PCR blood - NPHP1 1_II:2 PubMed: Sellami 2006 Family 1 (article in French) F - - - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Sellami 2006 - - Germline yes - - - - DNA PCR blood - NPHP1 1_II:3 PubMed: Sellami 2006 Family 1 (article in French) F - - - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Hoefele 2007 - - Germline yes - - - - DNA PCR blood - NPHP1 F9_II-1 PubMed: Hoefele 2007 family F9, individual II-1 M - Germany - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Hoefele 2007 - - Germline yes - - - - DNA PCR blood - NPHP1 F9_II-2 PubMed: Hoefele 2007 family F9, individual II-2 F - Germany - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Hoefele 2007 - - Germline yes - - - - DNA PCR blood - NPHP1 F906_II-2 PubMed: Hoefele 2007 family F906, individual II-2 F - Russia - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Hoefele 2007 - - Germline yes - - - - DNA PCR blood - NPHP1 F1114_II-1 PubMed: Hoefele 2007 family F1114, individual II-1 M - Hungary - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Hoefele 2007 - - Germline yes - - - - DNA PCR blood - NPHP1 F1114_II-2 PubMed: Hoefele 2007 family F1114, individual II-2 F - Hungary - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Soliman 2012 - - Germline/De novo (untested) ? - - - - DNA PCR blood - NPHP1 A2202 II1 PubMed: Soliman 2012 family A2202, individual II1; 14 more individuals described without homozygous deletion M - Egypt Egyptian - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Soliman 2012 - - Germline/De novo (untested) ? - - - - DNA PCR blood - NPHP1 A2228 II3 PubMed: Soliman 2012 family A2228, individual II3; 14 more individuals described without homozygous deletion F - Egypt Egyptian - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Soliman 2012 - - Germline yes - - - - DNA PCR blood - NPHP1 A2325 II1 PubMed: Soliman 2012 family A2325, individual II1; 14 more individuals described without homozygous deletion M - Egypt Egyptian - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Soliman 2012 - - Germline yes - - - - DNA PCR blood - NPHP1 A2325 II2 PubMed: Soliman 2012 family A2325, individual II2; 14 more individuals described without homozygous deletion M - Egypt Egyptian - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Soliman 2012 - - Germline/De novo (untested) ? - - - - DNA PCR blood - NPHP1 A2371 II1 PubMed: Soliman 2012 family A2371, individual II1; 14 more individuals described without homozygous deletion M - Egypt Egyptian - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Soliman 2012 - - Germline/De novo (untested) ? - - - - DNA PCR blood - NPHP1 A2413 II6 PubMed: Soliman 2012 family A2413, individual II6; 14 more individuals described without homozygous deletion F - Egypt Egyptian - - - - 1 LOVD
+/. - c.0 r.0 p.0 Unknown - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 compound heterozygous with undescribed point mutation in NPHP1 PubMed: Deacon 2013 - - Germline/De novo (untested) ? - - - - DNA ? - - JBTS ? PubMed: Deacon 2013 - - - - - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Gyung Kang 2015 - - Germline yes - - - - DNA ? - - NPHP1 ? PubMed: Gyung Kang 2015 - M - Korea, South (Republic) Korean - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Gyung Kang 2015 - - Germline yes - - - - DNA ? - - NPHP1 ? PubMed: Gyung Kang 2015 - M - Korea, South (Republic) Korean - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Gyung Kang 2015 - - Germline yes - - - - DNA ? - - NPHP1 ? PubMed: Gyung Kang 2015 - F - Korea, South (Republic) Korean - - - - 1 LOVD
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