Full data view for gene NPHP3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_153240.4 transcript reference sequence.

281 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-69A>G r.(?) p.(=) Unknown - benign g.132441268T>C g.132722424T>C NPHP3(NM_153240.5):c.-69A>G, NPHP3-ACAD11(NR_037804.1):n.36A>G - NPHP3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.1A>T r.(?) p.(Met1?) Paternal (confirmed) ACMG pathogenic g.132441199T>A g.132722355T>A c.1(exon1)A>T - NPHP3_000091 - PubMed: Tang 2022, Journal: Tang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1029 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.57G>C r.(?) p.(Thr19=) Unknown - likely benign g.132441143C>G g.132722299C>G NPHP3(NM_153240.4):c.57G>C (p.T19=), NPHP3(NM_153240.5):c.57G>C (p.(Thr19=)) - ACAD11_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.57G>C r.(?) p.(Thr19=) Unknown - likely benign g.132441143C>G - NPHP3(NM_153240.4):c.57G>C (p.T19=), NPHP3(NM_153240.5):c.57G>C (p.(Thr19=)) - ACAD11_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.65C>T r.(?) p.(Ala22Val) Unknown - VUS g.132441135G>A - NPHP3(NM_153240.5):c.65C>T (p.(Ala22Val)) - ACAD11_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.82T>C r.(?) p.(Cys28Arg) Unknown - VUS g.132441118A>G g.132722274A>G NPHP3(NM_153240.4):c.82T>C (p.C28R) - NPHP3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.85G>A r.(?) p.(Glu29Lys) Unknown - VUS g.132441115C>T - - - ACAD11_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.105G>A r.(?) p.(Lys35=) Unknown - benign g.132441095C>T g.132722251C>T NPHP3(NM_153240.4):c.105G>A (p.K35=), NPHP3(NM_153240.5):c.105G>A (p.K35=) - NPHP3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.105G>A r.(?) p.(Lys35=) Unknown - likely benign g.132441095C>T g.132722251C>T NPHP3(NM_153240.4):c.105G>A (p.K35=), NPHP3(NM_153240.5):c.105G>A (p.K35=) - NPHP3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.105G>A r.(?) p.(Lys35=) Unknown - benign g.132441095C>T g.132722251C>T NPHP3(NM_153240.4):c.105G>A (p.K35=), NPHP3(NM_153240.5):c.105G>A (p.K35=) - NPHP3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.118C>T r.(?) p.(=) Unknown - likely benign g.132441082G>A - NPHP3(NM_153240.5):c.118C>T (p.L40=) - ACAD11_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.154G>A r.(?) p.(Ala52Thr) Parent #1 - benign g.132441046C>T g.132722202C>T - - NPHP3_000001 predicted benign PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. - c.154G>A r.(?) p.(Ala52Thr) Unknown - benign g.132441046C>T g.132722202C>T NPHP3(NM_153240.4):c.154G>A (p.A52T, p.(Ala52Thr)), NPHP3(NM_153240.5):c.154G>A (p.A52T) - NPHP3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154G>A r.(?) p.(Ala52Thr) Unknown - likely benign g.132441046C>T g.132722202C>T NPHP3(NM_153240.4):c.154G>A (p.A52T, p.(Ala52Thr)), NPHP3(NM_153240.5):c.154G>A (p.A52T) - NPHP3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154G>A r.(?) p.(Ala52Thr) Unknown - likely benign g.132441046C>T g.132722202C>T NPHP3(NM_153240.4):c.154G>A (p.A52T, p.(Ala52Thr)), NPHP3(NM_153240.5):c.154G>A (p.A52T) - NPHP3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.154G>A r.(?) p.(Ala52Thr) Maternal (confirmed) - VUS g.132441046C>T g.132722202C>T NPHP3 c.154G>A, p.(Ala52Thr) - NPHP3_000001 single heterozygous, no second allele found PubMed: Hoefele 2007 - - Germline ? - - - - DNA PCR blood - NPHP1 F 440_II-2 PubMed: Hoefele 2007 family F 440, individual II-2 - - Austria - - - - - 1 LOVD
+/. - c.154G>A r.(?) p.(Ala52Thr) Unknown - pathogenic g.132441046C>T g.132722202C>T NPHP3 G154A, A52T - NPHP3_000001 heterozygous PubMed: Hoefele 2007 - - Germline/De novo (untested) ? - - - - DNA PCR blood - NPHP1 F194_II-1 PubMed: Hoefele 2007 family F194, individual II-1 M - Germany - - - - - 1 LOVD
-?/. - c.189G>C r.(?) p.(Gly63=) Unknown - likely benign g.132441011C>G - NPHP3(NM_153240.5):c.189G>C (p.G63=) - ACAD11_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189G>C r.(?) p.(Gly63=) Unknown - likely benign g.132441011C>G - NPHP3(NM_153240.5):c.189G>C (p.G63=) - ACAD11_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.233G>T r.(?) p.(Gly78Val) Unknown - VUS g.132440967C>A g.132722123C>A NPHP3(NM_153240.5):c.233G>T (p.G78V) - NPHP3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.239C>T r.(?) p.(Ser80Leu) Unknown - VUS g.132440961G>A - NPHP3(NM_153240.4):c.239C>T (p.S80L) - ACAD11_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245C>A r.(?) p.(Pro82Gln) Unknown - VUS g.132440955G>T - NPHP3(NM_153240.5):c.245C>A (p.(Pro82Gln)) - ACAD11_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.273del r.(?) p.(Tyr91*) Parent #1 - pathogenic g.132440927del g.132722083del - - NPHP3_000061 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs758558609 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
?/. - c.283A>G r.(?) p.(Arg95Gly) Unknown - VUS g.132440917T>C - NPHP3(NM_153240.5):c.283A>G (p.(Arg95Gly)) - ACAD11_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.362C>G r.(?) p.(Thr121Arg) Maternal (confirmed) - VUS g.132440838G>C g.132721994G>C NPHP3 C362G, T121R - NPHP3-ACAD11_000008 heterozygous PubMed: Hoefele 2007 - - Germline yes - - - - DNA PCR blood - NPHP1 F24_II-1 PubMed: Hoefele 2007 family F24, individual II-1 F - Germany - - - - - 1 LOVD
-?/. - c.384C>G r.(?) p.(Ala128=) Unknown - likely benign g.132440816G>C - NPHP3(NM_153240.4):c.384C>G (p.A128=) - ACAD11_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.393+18C>T r.(=) p.(=) Unknown - benign g.132440789G>A g.132721945G>A NPHP3(NM_153240.5):c.393+18C>T - ACAD11_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393+18C>T r.(=) p.(=) Unknown - likely benign g.132440789G>A - NPHP3(NM_153240.5):c.393+18C>T - ACAD11_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.394-75_394-74del r.(=) p.(=) Unknown - benign g.132438762_132438763del g.132719918_132719919del NPHP3(NM_153240.5):c.394-75_394-74delAT - NPHP3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.424C>T r.(?) p.(Arg142Ter) Unknown - likely pathogenic g.132438644G>A g.132719800G>A NPHP3 c.424C>T, p.Arg142* - NPHP3-ACAD11_000005 single heterozygous variant in a recessive disease; no second causative allele found PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-46 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.424C>T r.(?) p.(Arg142Ter) Unknown - likely pathogenic g.132438644G>A g.132719800G>A NPHP3 c.424C>T, p.Arg142* - NPHP3-ACAD11_000005 single heterozygous variant in a recessive disease; no second causative allele found PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-83 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.435_438delAAGT r.(?) p.(Ser146Leufs*2) Maternal (confirmed) - likely pathogenic g.132438630_132438633del g.132719786_132719789del NPHP3 435-438delAAGT, fsX148 - NPHP3-ACAD11_000007 heterozygous PubMed: Hoefele 2007 - - Germline yes - - - - DNA PCR blood - NPHP1 A11_II-1 PubMed: Hoefele 2007 family A11, individual II-1 M - France - - - - - 1 LOVD
-?/. - c.449C>T r.(?) p.(Ala150Val) Unknown - likely benign g.132438619G>A g.132719775G>A NPHP3(NM_153240.4):c.449C>T (p.A150V), NPHP3(NM_153240.5):c.449C>T (p.A150V) - NPHP3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.449C>T r.(?) p.(Ala150Val) Unknown - likely benign g.132438619G>A g.132719775G>A NPHP3(NM_153240.4):c.449C>T (p.A150V), NPHP3(NM_153240.5):c.449C>T (p.A150V) - NPHP3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.449C>T r.(?) p.(Ala150Val) Parent #1 - likely benign g.132438619G>A g.132719775G>A - - NPHP3_000044 24 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142663818 Germline - 24/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 24 Mohammed Faruq
+?/. - c.449C>T r.(?) p.(Ala150Val) Both (homozygous) ACMG likely pathogenic g.132438619G>A g.132719775G>A NPHP3 NM_153240: g.2685C>T, c.449C>T, p.A150V - NPHP3_000044 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 67330 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
-/. - c.449C>T r.(?) p.(Ala150Val) Unknown - benign g.132438619G>A - NPHP3(NM_153240.4):c.449C>T (p.A150V), NPHP3(NM_153240.5):c.449C>T (p.A150V) - NPHP3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.450G>A r.(?) p.(Ala150=) Unknown - benign g.132438618C>T g.132719774C>T NPHP3(NM_153240.4):c.450G>A (p.A150=), NPHP3(NM_153240.5):c.450G>A (p.A150=) - NPHP3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.450G>A r.(?) p.(Ala150=) Unknown - likely benign g.132438618C>T - NPHP3(NM_153240.4):c.450G>A (p.A150=), NPHP3(NM_153240.5):c.450G>A (p.A150=) - NPHP3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.489T>C r.(?) p.(His163=) Unknown - likely benign g.132438579A>G - NPHP3(NM_153240.4):c.489T>C (p.H163=) - ACAD11_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.520-10C>G r.(=) p.(=) Unknown - benign g.132437998G>C g.132719154G>C NPHP3(NM_153240.5):c.520-10C>G - ACAD11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.520-10C>G r.(=) p.(=) Unknown - likely benign g.132437998G>C - NPHP3(NM_153240.5):c.520-10C>G - ACAD11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.520-1G>T r.520_527del p.Ile174Glyfs*6 Paternal (confirmed) - pathogenic (recessive) g.132437989C>A - - - NPHP3_000092 - PubMed: Larrue 2020 VCV000812666 - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - NPHP family PubMed: Larrue 2020 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - France - - - - - 1 Johan den Dunnen
+/. - c.541_548dup r.(?) p.(Gln184MetfsTer7) Unknown - pathogenic g.132437960_132437967dup g.132719116_132719123dup NPHP3(NM_153240.5):c.541_548dupAATGAAAT (p.Q184Mfs*7) - ACAD11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.589C>T r.(?) p.(Leu197Phe) Unknown - VUS g.132437919G>A - NPHP3(NM_153240.5):c.589C>T (p.(Leu197Phe)) - ACAD11_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.621A>G r.(?) p.(Val207=) Unknown - likely benign g.132437887T>C g.132719043T>C NPHP3(NM_153240.4):c.621A>G (p.V207=) - NPHP3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.670+6T>C r.(=) p.(=) Unknown - likely benign g.132437832A>G g.132718988A>G NPHP3(NM_153240.4):c.670+6T>C - NPHP3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.670+936del r.(=) p.(=) Unknown - benign g.132436909del g.132718065del NPHP3(NM_153240.5):c.670+936delA - NPHP3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.671-996C>G r.670_671ins670+877_670+1039 p.Ala224fs Maternal (confirmed) - pathogenic (recessive) g.132436749G>C - - - NPHP3_000093 - PubMed: Larrue 2020 VCV000812665 - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - NPHP family PubMed: Larrue 2020 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - France - - - - - 1 Johan den Dunnen
-?/. - c.671-12C>G r.(=) p.(=) Unknown - likely benign g.132435765G>C - NPHP3(NM_153240.5):c.671-12C>G - NPHP3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.748C>T r.(?) p.(Gln250Ter) Both (homozygous) ACMG pathogenic g.132435676G>A g.132716832G>A c.748(exon4)C>T - NPHP3_000090 - PubMed: Tang 2022, Journal: Tang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1013 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
?/. - c.785C>A r.(?) p.(Ser262Tyr) Unknown - VUS g.132435639G>T - NPHP3(NM_153240.4):c.785C>A (p.S262Y) - NPHP3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.823+1G>A r.spl? p.? Unknown - VUS g.132435600C>T - NPHP3(NM_153240.5):c.823+1G>A - ACAD11_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.824-9T>C r.(=) p.(=) Unknown - benign g.132434071A>G g.132715227A>G NPHP3(NM_153240.4):c.824-9T>C - NPHP3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.856C>G r.(?) p.(Gln286Glu) Unknown - VUS g.132434030G>C - NPHP3(NM_153240.4):c.856C>G (p.Q286E) - ACAD11_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.863C>T r.(?) p.(Thr288Ile) Unknown - VUS g.132434023G>A - NPHP3(NM_153240.4):c.863C>T (p.T288I) - ACAD11_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864T>A r.(?) p.(Thr288=) Unknown - likely benign g.132434022A>T g.132715178A>T NPHP3(NM_153240.4):c.864T>A (p.T288=) - NPHP3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.887G>A r.(?) p.(Trp296Ter) Paternal (confirmed) ACMG pathogenic g.132433999C>T g.132715155C>T c.887(exon5)G>A - NPHP3_000089 - PubMed: Tang 2022, Journal: Tang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1017 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
?/. 5 c.905G>A r.(?) p.(Cys302Tyr) Maternal (confirmed) ACMG VUS g.132433981C>T g.132715137C>T c.905(exon5)G>A - NPHP3_000088 - PubMed: Tang 2022, Journal: Tang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1013 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
?/. - c.920C>T r.(?) p.(Thr307Ile) Unknown - VUS g.132433966G>A - - - ACAD11_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.944A>T r.(?) p.(Asp315Val) Parent #2 - likely pathogenic g.132433942T>A g.132715098T>A - - NPHP3_000002 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+/. - c.958-2A>G r.spl? p.? Unknown - pathogenic g.132432132T>C - NPHP3(NM_153240.5):c.958-2A>G - ACAD11_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.958-2A>G r.spl p.? Unknown - pathogenic g.132432132T>C g.132713288T>C - - ACAD11_000063 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
?/. - c.1009C>T r.(?) p.(His337Tyr) Unknown - VUS g.132432079G>A g.132713235G>A NPHP3(NM_153240.4):c.1009C>T (p.H337Y) - NPHP3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1038A>G r.(?) p.(Glu346=) Unknown - likely benign g.132432050T>C - NPHP3(NM_153240.5):c.1038A>G (p.E346=) - NPHP3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.1066G>A r.(?) p.(Glu356Lys) Paternal (confirmed) ACMG VUS g.132432022C>T g.132713178C>T c.1066(exon6)G>A - NPHP3_000087 - PubMed: Tang 2022, Journal: Tang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1008 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
+/. - c.1072G>T r.(?) p.(Glu358Ter) Unknown - pathogenic g.132432016C>A g.132713172C>A - - ACAD11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1115C>T r.(?) p.(Pro372Leu) Unknown - likely pathogenic g.132431973G>A g.132713129G>A NPHP3(NM_153240.5):c.1115C>T (p.P372L) - ACAD11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1118+16dup r.(=) p.(=) Unknown - benign g.132431961dup g.132713117dup NPHP3(NM_153240.5):c.1118+16dupA - ACAD11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1119-14G>T r.(=) p.(=) Unknown - likely benign g.132427115C>A - NPHP3(NM_153240.5):c.1119-14G>T - ACAD11_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1157A>G r.(?) p.(Asn386Ser) Unknown - likely benign g.132427063T>C g.132708219T>C NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S) - ACAD11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1157A>G r.(?) p.(Asn386Ser) Unknown - VUS g.132427063T>C g.132708219T>C NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S) - ACAD11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1157A>G r.(?) p.(Asn386Ser) Unknown - likely benign g.132427063T>C g.132708219T>C NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S) - ACAD11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1157A>G r.(?) p.(Asn386Ser) Unknown - likely benign g.132427063T>C g.132708219T>C NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S) - ACAD11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1157A>G r.(?) p.(Asn386Ser) Maternal (confirmed) - VUS g.132427063T>C g.132708219T>C NPHP3 c.1157A>G, p.(Asn386Ser) - ACAD11_000025 single heterozygous, no second allele found PubMed: Hoefele 2007 - - Germline ? - - - - DNA PCR blood - NPHP1 F16_II-3 PubMed: Hoefele 2007 family F16, individual II-3 - - France - - - - - 1 LOVD
+?/. - c.1157A>G r.(?) p.(Asn386Ser) Unknown - likely pathogenic g.132427063T>C g.132708219T>C NPHP3 A1157G, N386S - ACAD11_000025 heterozygous PubMed: Hoefele 2007 - - Germline/De novo (untested) ? - - - - DNA PCR blood - NPHP1 F906_II-2 PubMed: Hoefele 2007 family F906, individual II-2 F - Russia - - - - - 1 LOVD
+/. 7 c.1174C>T r.(?) p.(Arg392Ter) Maternal (confirmed) ACMG pathogenic g.132427046G>A g.132708202G>A c.1174(exon7)C>T - NPHP3_000086 - PubMed: Tang 2022, Journal: Tang 2022 - rs1485445500 Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 330 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.1189C>T r.(?) p.(Arg397Cys) Unknown - likely benign g.132427031G>A g.132708187G>A NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C) - ACAD11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1189C>T r.(?) p.(Arg397Cys) Unknown - VUS g.132427031G>A g.132708187G>A NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C) - ACAD11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1189C>T r.(?) p.(Arg397Cys) Unknown - likely benign g.132427031G>A g.132708187G>A NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C) - ACAD11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1189C>T r.(?) p.(Arg397Cys) Unknown - benign g.132427031G>A g.132708187G>A NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C) - ACAD11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1189C>T r.(?) p.(Arg397Cys) Parent #1 - VUS g.132427031G>A g.132708187G>A - - ACAD11_000024 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141477666 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.1189C>T r.(?) p.(Arg397Cys) Parent #1 - VUS g.132427031G>A g.132708187G>A - - ACAD11_000024 heterozygous variant only, does not fit phenotype PubMed: Arno 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS retinal disease FamGC18203Pat1 PubMed: Arno 2017 3-generation family, 1 affeted, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1189C>T r.(?) p.(Arg397Cys) Unknown - VUS g.132427031G>A g.132708187G>A - - ACAD11_000024 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case72007 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
-?/. - c.1189C>T r.(?) p.(Arg397Cys) Unknown - likely benign g.132427031G>A - NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C) - ACAD11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1189C>T r.(?) p.(Arg397Cys) Paternal (confirmed) - likely pathogenic g.132427031G>A g.132708187G>A NPHP3 C1189T, p.R397C - ACAD11_000024 heterozygous 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.1189C>T r.(?) p.(Arg397Cys) Paternal (confirmed) - likely pathogenic g.132427031G>A g.132708187G>A NPHP3 C1189T, p.R397C - ACAD11_000024 heterozygous 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.1190G>A r.(?) p.(Arg397His) Unknown - VUS g.132427030C>T g.132708186C>T NPHP3(NM_153240.4):c.1190G>A (p.R397H) - NPHP3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1304_1306del r.(?) p.(Glu435del) Paternal (confirmed) ACMG likely pathogenic g.132424630_132424632del g.132705786_132705788del c.1304(exon8)_c.1306(exon8)delAAG - NPHP3_000085 - PubMed: Tang 2022, Journal: Tang 2022 - rs1456714047 Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1006 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
+?/. 8 c.1304_1306del r.(?) p.(Glu435del) Paternal (confirmed) ACMG likely pathogenic g.132424630_132424632del g.132705786_132705788del c.1304(exon8)_c.1306(exon8)delAAG - NPHP3_000085 - PubMed: Tang 2022, Journal: Tang 2022 - rs1456714047 Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1007 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
?/. 8 c.1350G>A r.(?) p.(Gln450=) Maternal (confirmed) ACMG VUS g.132424584C>T g.132705740C>T c.1350(exon8)G>A - NPHP3_000084 - PubMed: Tang 2022, Journal: Tang 2022 - rs751202958 Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1030 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.1350+8T>C r.(=) p.(=) Unknown - likely benign g.132424576A>G g.132705732A>G NPHP3(NM_153240.4):c.1350+8T>C - NPHP3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1351-14T>G r.(=) p.(=) Unknown - likely benign g.132423229A>C g.132704385A>C NPHP3(NM_153240.5):c.1351-14T>G - NPHP3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1357C>T r.(?) p.(Leu453=) Unknown - likely benign g.132423209G>A - NPHP3(NM_153240.4):c.1357C>T (p.L453=) - ACAD11_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.1358T>G r.(?) p.(Leu453Arg) Paternal (confirmed) ACMG VUS g.132423208A>C g.132704364A>C c.1358(exon9)T>G - NPHP3_000083 - PubMed: Tang 2022, Journal: Tang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 516 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.1437T>G r.(?) p.(Asp479Glu) Unknown - likely pathogenic g.132423129A>C g.132704285A>C NPHP3(NM_153240.4):c.1437T>G (p.(Asp479Glu)) - ACAD11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1525-5del r.spl? p.? Unknown - benign g.132420390del g.132701546del NPHP3(NM_153240.5):c.1525-5delT - NPHP3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1525-5dup r.spl? p.? Unknown - likely benign g.132420390dup g.132701546dup NPHP3(NM_153240.4):c.1525-5dupT - ACAD11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.1556C>G r.(?) p.(Ala519Gly) Unknown - VUS g.132420346G>C - c.[1556C>G];[=] - NPHP3_000071 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - - Melanesian - - - - 1 LOVD
?/. - c.1588G>A r.(?) p.(Gly530Arg) Unknown - VUS g.132420314C>T - NPHP3(NM_153240.5):c.1588G>A (p.(Gly530Arg)) - ACAD11_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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