All variants in the NPHP1 gene

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     

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     

Owner     
+?/. - c.(?_-94)_(*455_?) r.0 p.0 - likely pathogenic g.? g.? common NPHP1 deletion - SNRNP200_000007 - PubMed: Brooks 2018 RCV000003688.3 - Germline ? - - - - LOVD
+?/. - c.(?_-94)_(*455_?) r.0 p.0 - likely pathogenic g.? g.? common NPHP1 deletion - SNRNP200_000007 - PubMed: Brooks 2018 RCV000003688.3 - Germline ? - - - - LOVD
+?/. - c.(?_-94)_(*455_?) r.0 p.0 - likely pathogenic g.? g.? common NPHP1 deletion - SNRNP200_000007 - PubMed: Brooks 2018 RCV000003688.3 - Germline ? - - - - LOVD
+/. - c.-94_*455{0} r.0 p.0 - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
+/. - c.-94_*455{0} r.0 p.0 - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
+/. - c.-94_*455{0} r.0 p.0 - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
+/. - c.-94_*455{0} r.0 p.0 - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
+/. - c.-94_*455{0} r.0 p.0 - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
+/. - NPHP1Del NA p.? - pathogenic (recessive) g.? - - - SNRNP200_000007 - PubMed: Srour 2015 - - Germline - - - - - LOVD
+/. - c.-4984_*5679del r.0? p.0? - pathogenic g.110875689_110967529del - del whole gene - NPHP1_000081 91,840 bp deletion PubMed: Lindstrand 2016 - - Germline - - - - - LOVD
+/. - c.-4984_*5679del r.0? p.0? - pathogenic g.110875689_110967529del - del whole gene - NPHP1_000081 91,840 bp deletion PubMed: Lindstrand 2016 - - Germline - - - - - LOVD
+/. - c.-4984_*5679del r.0? p.0? - pathogenic g.110875689_110967529del - del whole gene - NPHP1_000081 91,840 bp deletion PubMed: Lindstrand 2016 - - Germline - - - - - LOVD
+?/. - c.(?_-215)_(*582_?)del r.0 p.0 - likely pathogenic g.? g.? - - SNRNP200_000007 NPHP1 deletion PubMed: Hussain 2018 - - Germline/De novo (untested) ? - - - - LOVD
+?/. - c.(?_-215)_(*582_?)del r.0 p.0 - likely pathogenic g.? g.? - - SNRNP200_000007 NPHP1 deletion PubMed: Hussain 2018 - - Germline/De novo (untested) ? - - - - LOVD
+?/. - c.(?_-215)_(*582_?)del r.0 p.0 - likely pathogenic g.? g.? - - SNRNP200_000007 NPHP1 deletion PubMed: Hussain 2018 - - Germline/De novo (untested) ? - - - - LOVD
+?/. - c.(?_-215)_(*582_?)del r.0 p.0 - likely pathogenic g.? g.? - - SNRNP200_000007 NPHP1 deletion PubMed: Hussain 2018 - - Germline/De novo (untested) ? - - - - LOVD
+?/. - c.(?_-215)_(*582_?)del r.0 p.0 - likely pathogenic g.? g.? - - SNRNP200_000007 NPHP1 deletion PubMed: Hussain 2018 - - Germline/De novo (untested) ? - - - - LOVD
+?/. - c.(?_-215)_(*582_?)del r.0 p.0 - likely pathogenic g.? g.? - - SNRNP200_000007 NPHP1 deletion PubMed: Hussain 2018 - - Germline/De novo (untested) ? - - - - LOVD
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? - likely pathogenic (recessive) g.110880913_110962639del - Del, hom - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - Julia Lopez
+?/+? 1_20 c.(?_-94)_(*455_?)del r.? p.? - likely pathogenic (recessive) g.110880913_110962639del - Del, hetc.1027 G>A, het. - NPHP1_000085 - PubMed: Tory 2007 - - Germline - - - - - Julia Lopez
+/. - c.-94_*455{0} r.0 p.0 - pathogenic (dominant) g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - - Germline - - - - - Intisar Al Alawi
+/. - c.-94_*455{0} r.0 p.0 - pathogenic (dominant) g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - - Germline - - - - - Intisar Al Alawi
+/. - c.-94_*455{0} r.0 p.0 - pathogenic (dominant) g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - - Germline - - - - - Intisar Al Alawi
+?/. 1_20 c.0 r.0 p.0 - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - LOVD
+?/. 1_20 c.0 r.0 p.0 - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - LOVD
+?/. 1_20 c.0 r.0 p.0 - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - LOVD
+?/. 1_20 c.0 r.0 p.0 - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - LOVD
+?/. 1_20 c.0 r.0 p.0 - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 maternal allele, heterozygous PubMed: Javorszky 2017 - - Germline yes - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - pathogenic g.(?_110962591)_(110879887_?)del g.? deletion including NPHP1 - c.(?_-1)_(*1_?)del - NPHP1_000116 homozygous PubMed: Javorszky 2017 - - Germline yes - - - - LOVD
+/. - c.(?_-46-1)_(*1481_?)del r.0 p.0 - 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 - - - - LOVD
+/. _1_20_ c.(?_-1)_(*1_?)del r.? p.? - pathogenic g.(?_110881368)_(110962545_?)del - chr2:110881368-?_110962545+?del - NPHP1_000088 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1_20 c.-94_*455{2} r.? p.? - likely benign g.(?_110881363)_(110962550_?)dup - chr2:110881363–110962550dup - NPHP1_000099 - PubMed: Ellingsford 2018 - - Germline - - - - - LOVD
-?/. 1_20 c.-94_*455{2} r.? p.? - likely benign g.(?_110881363)_(110962550_?)dup - chr2:110881363–110962550dup - NPHP1_000099 - PubMed: Ellingsford 2018 - - Germline - - - - - LOVD
-?/. 1_20 c.-94_*455{2} r.? p.? - likely benign g.(?_110881363)_(110962550_?)dup - chr2:110881363–110962550dup - NPHP1_000099 - PubMed: Ellingsford 2018 - - Germline - - - - - LOVD
+?/. _1_20_ c.-94_*455{0} r.0? p.0? - likely pathogenic g.(?_110881363)_(110962550_?)del - chr2:110881363–110962550del - NPHP1_000098 - PubMed: Ellingsford 2018 - - Germline - - - - - LOVD
+/. - c.0 NA p.? - pathogenic (recessive) g.? - - - SNRNP200_000007 - PubMed: Srour 2015 - - Germline/De novo (untested) - - - - - LOVD
?/. - c.0 r.0 p.0 - VUS g.? - complete deletion of the NPHP1 gene - SNRNP200_000007 - PubMed: Bifari 2015 - - Germline - - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? - Wholegenedeletion - SNRNP200_000007 - PubMed: Wang 2016 - - Germline - - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g,? NPHP1 Total deletion (Hom) - NPHP1_000075 homozygous PubMed: Kang 2016 - - Unknown ? - - - - LOVD
+/. - c.0 r.(?) p.0 - pathogenic g.? g,? NPHP1 Total deletion - NPHP1_000075 heterozygous PubMed: Kang 2016 - - Unknown ? - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g,? NPHP1 Total deletion (Hom) - NPHP1_000075 homozygous PubMed: Kang 2016 - - Unknown ? - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g,? NPHP1 Total deletion (Hom) - NPHP1_000075 homozygous PubMed: Kang 2016 - - Unknown ? - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g,? NPHP1 Total deletion (Hom) - NPHP1_000075 homozygous PubMed: Kang 2016 - - Unknown ? - - - - LOVD
+?/. - c.0 r.0 p.0 - likely pathogenic g.? g.? NPHP1 total deletion - SNRNP200_000007 homozygous PubMed: Betz 2000 - - Germline yes - - - - LOVD
+?/. - c.0 r.0 p.0 - likely pathogenic g.? g.? NPHP1 total deletion - SNRNP200_000007 heterozygous PubMed: Betz 2000 - - Germline yes - - - - LOVD
+?/. - c.0 r.0 p.0 - likely pathogenic g.? g.? NPHP1 total deletion - SNRNP200_000007 homozygous PubMed: Takano 2002 - - Germline yes - - - - LOVD
+?/. - c.0 r.0 p.0 - 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 - - - - LOVD
+?/. - c.0 r.0 p.0 - 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 - - - - LOVD
+?/. - c.0 r.0 p.0 - 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 - - - - LOVD
+?/. - c.0 r.0 p.0 - 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 - - - - LOVD
+?/. - c.0 r.0 p.0 - likely pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Castori 2005 - - Germline ? 1 in 40 tested Joubert syndrome probands - - - LOVD
+/. - c.0 r.(?) p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 heterozygous PubMed: Caridi 2006 - - Germline yes 1 in 40 tested Joubert syndrome probands - - - LOVD
+/. - c.0 r.(?) p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 heterozygous PubMed: Caridi 2006 - - Germline yes 1 in 40 tested Joubert syndrome probands - - - LOVD
+/. - c.0 r.(?) p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 heterozygous PubMed: Caridi 2006 - - Germline yes 1 in 40 tested Joubert syndrome probands - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Bollee 2006 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Bollee 2006 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Bollee 2006 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Bollee 2006 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Sellami 2006 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Sellami 2006 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Hoefele 2007 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Hoefele 2007 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Hoefele 2007 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Hoefele 2007 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Hoefele 2007 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Soliman 2012 - - Germline/De novo (untested) ? - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Soliman 2012 - - Germline/De novo (untested) ? - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Soliman 2012 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Soliman 2012 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Soliman 2012 - - Germline/De novo (untested) ? - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Soliman 2012 - - Germline/De novo (untested) ? - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 compound heterozygous with undescribed point mutation in NPHP1 PubMed: Deacon 2013 - - Germline/De novo (untested) ? - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Gyung Kang 2015 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Gyung Kang 2015 - - Germline yes - - - - LOVD
+/. - c.0 r.0 p.0 - pathogenic g.? g.? deletion including NPHP1 - SNRNP200_000007 homozygous PubMed: Gyung Kang 2015 - - Germline yes - - - - LOVD
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