Full data view for gene NPR3

Information The variants shown are described using the NM_001204375.1 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
Legend   How to query  

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.-1016G>A r.(?) p.(=) Unknown - likely benign g.32710867G>A - NPR3(NM_001363652.1):c.99G>A (p.R33=) - NPR3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-987G>A r.(?) p.(=) Unknown - likely benign g.32710896G>A g.32710790G>A NPR3(NM_000908.3):c.-987G>A (p.(=)) - NPR3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228C>A r.(?) p.(=) Unknown - likely benign g.32712110C>A - NPR3(NM_001204375.2):c.228C>A (p.I76=) - NPR3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237T>C r.(?) p.(=) Unknown - likely benign g.32712119T>C - NPR3(NM_001204375.2):c.237T>C (p.(Ala79=)) - NPR3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.248del r.(?) p.(Val83Glyfs*105) Both (homozygous) - pathogenic (recessive) g.32712130del g.32712024del 248delT - NPR3_000002 - - - - Germline - - - - - DNA SEQ-NG - WES ? - - - F yes - - - - - - 1 Eveline Boudin
+/. - c.442T>C r.(?) p.(Ser148Pro) Paternal (confirmed) - pathogenic (recessive) g.32712324T>C g.32712218T>C - - NPR3_000003 - - - - Germline yes - - - - DNA SEQ, SEQ-NG-I - WES ? - - - M no Netherlands white - - yes - 3 Eveline Boudin
./. - c.442T>C r.(?) p.(Ser148Pro) Unknown - pathogenic (recessive) g.32712324T>C g.32712218T>C - - NPR3_000003 - - - - Germline yes - - - - DNA SEQ, SEQ-NG-I - WES ? - - - M no Netherlands white - - - - 1 Eveline Boudin
+?/. - c.527G>T r.(?) p.(Arg176Leu) Unknown - likely pathogenic g.32712409G>T - NPR3(NM_001204375.2):c.527G>T (p.R176L) - NPR3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.528C>G r.(?) p.(Arg176=) Unknown - likely benign g.32712410C>G - NPR3(NM_001204375.2):c.528C>G (p.(Arg176=), p.R176=) - NPR3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.528C>G r.(?) p.(Arg176=) Unknown - likely benign g.32712410C>G - NPR3(NM_001204375.2):c.528C>G (p.(Arg176=), p.R176=) - NPR3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.769+180C>T r.(=) p.(=) Unknown - benign g.32712831C>T - NPR3(NM_001204375.2):c.769+180C>T - NPR3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.769+3884C>T r.(=) p.(=) Unknown - benign g.32716535C>T - NPR3(NM_001204375.2):c.769+3884C>T - NPR3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770-169G>A r.(=) p.(=) Unknown - likely benign g.32724635G>A - NPR3(NM_001204375.2):c.770-169G>A - NPR3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.821C>T r.(?) p.(Ala274Val) Unknown - likely benign g.32724855C>T - NPR3(NM_000908.3):c.821C>T (p.(Ala274Val)), NPR3(NM_001204375.2):c.821C>T (p.A274V) - NPR3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.821C>T r.(?) p.(Ala274Val) Unknown - VUS g.32724855C>T - NPR3(NM_000908.3):c.821C>T (p.(Ala274Val)), NPR3(NM_001204375.2):c.821C>T (p.A274V) - NPR3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.822G>A r.(?) p.(Ala274=) Unknown - benign g.32724856G>A - NPR3(NM_001204375.2):c.822G>A (p.A274=) - NPR3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.892+16C>A r.(=) p.(=) Unknown - benign g.32724942C>A - NPR3(NM_001204375.2):c.892+16C>A - NPR3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.892+146T>C r.(=) p.(=) Unknown - benign g.32725072T>C - NPR3(NM_001204375.2):c.892+146T>C - NPR3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.892+234C>G r.(=) p.(=) Unknown - likely benign g.32725160C>G - NPR3(NM_001204375.2):c.892+234C>G - NPR3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.893-84G>A r.(=) p.(=) Unknown - benign g.32738886G>A - NPR3(NM_001204375.2):c.893-84G>A - NPR3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.943G>A r.(?) p.(Ala315Thr) Unknown - likely pathogenic g.32739020G>A g.32738914G>A NPR3(NM_001204375.1):c.943G>A (p.(Ala315Thr)) - NPR3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.951G>A r.(?) p.(Ser317=) Unknown - likely benign g.32739028G>A - NPR3(NM_001204375.2):c.951G>A (p.S317=) - NPR3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.963A>T r.(?) p.(Thr321=) Unknown - likely benign g.32739040A>T - NPR3(NM_001204375.2):c.963A>T (p.T321=) - NPR3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1059C>T r.(?) p.(=) Unknown - likely benign g.32739136C>T - NPR3(NM_001204375.2):c.1059C>T (p.(Tyr353=)) - NPR3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1078G>A r.(?) p.(Gly360Arg) Unknown - VUS g.32774832G>A - NPR3(NM_000908.3):c.1078G>A (p.(Gly360Arg)) - NPR3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1086C>T r.(?) p.(His362=) Unknown - likely benign g.32774840C>T - NPR3(NM_001204375.2):c.1086C>T (p.H362=) - NPR3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1088A>T r.(?) p.(Asp363Val) Both (homozygous) - pathogenic (recessive) g.32774842A>T g.32774736A>T - - NPR3_000005 - - - - Germline yes - - - - DNA SEQ - - ? - - - ? yes - - - - - - 1 Eveline Boudin
-?/. - c.1104C>T r.(?) p.(=) Unknown - likely benign g.32774858C>T - NPR3(NM_001204375.2):c.1104C>T (p.Y368=) - NPR3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1190T>C r.(?) p.(Phe397Ser) Unknown - likely pathogenic g.32774944T>C - NPR3(NM_000908.3):c.1190T>C (p.(Phe397Ser)) - NPR3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1226A>G r.(?) p.(Asn409Ser) Unknown - VUS g.32780858A>G - NPR3(NM_001204375.2):c.1226A>G (p.(Asn409Ser)) - NPR3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1227C>T r.(?) p.(=) Unknown - likely benign g.32780859C>T - NPR3(NM_001204375.2):c.1227C>T (p.N409=) - NPR3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1271T>C r.(?) p.(Val424Ala) Unknown - likely benign g.32780903T>C g.32780797T>C NPR3(NM_000908.3):c.1271T>C (p.(Val424Ala)) - NPR3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1273G>A r.(?) p.(Glu425Lys) Unknown - VUS g.32780905G>A - NPR3(NM_001204375.2):c.1273G>A (p.E425K) - NPR3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1277C>A r.(?) p.(Ala426Glu) Unknown - VUS g.32780909C>A - NPR3(NM_000908.3):c.1277C>A (p.(Ala426Glu)) - NPR3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1290+8C>T r.(=) p.(=) Unknown - likely benign g.32780930C>T - NPR3(NM_000908.3):c.1290+8C>T (p.(=)) - NPR3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1294A>T r.(?) p.(Ile432Phe) Unknown - likely pathogenic g.32783002A>T g.32782896A>T NPR3(NM_000908.3):c.1294A>T (p.(Ile432Phe)) - NPR3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1388G>A r.(?) p.(Arg463Gln) Unknown - VUS g.32783096G>A g.32782990G>A NPR3(NM_000908.3):c.1388G>A (p.(Arg463Gln)), NPR3(NM_001204375.2):c.1388G>A (p.R463Q) - NPR3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1388G>A r.(?) p.(Arg463Gln) Unknown - VUS g.32783096G>A - NPR3(NM_000908.3):c.1388G>A (p.(Arg463Gln)), NPR3(NM_001204375.2):c.1388G>A (p.R463Q) - NPR3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1388G>A r.(?) p.(Arg463Gln) Unknown - likely benign g.32783096G>A - NPR3(NM_000908.3):c.1388G>A (p.(Arg463Gln)), NPR3(NM_001204375.2):c.1388G>A (p.R463Q) - NPR3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1426T>C r.(?) p.(Ser476Pro) Unknown - VUS g.32783134T>C - NPR3(NM_001204375.2):c.1426T>C (p.(Ser476Pro)) - NPR3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1426+86C>T r.(=) p.(=) Unknown - likely benign g.32783220C>T - NPR3(NM_001204375.2):c.1426+86C>T - NPR3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1432G>A r.(?) p.(Gly478Ser) Unknown - likely benign g.32784907G>A g.32784801G>A NPR3(NM_000908.3):c.1429G>A (p.(Gly477Ser)), NPR3(NM_001204375.2):c.1432G>A (p.G478S) - NPR3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1432G>A r.(?) p.(Gly478Ser) Unknown - VUS g.32784907G>A - NPR3(NM_000908.3):c.1429G>A (p.(Gly477Ser)), NPR3(NM_001204375.2):c.1432G>A (p.G478S) - NPR3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1432G>A r.(?) p.(Gly478Ser) Unknown - likely benign g.32784907G>A - NPR3(NM_000908.3):c.1429G>A (p.(Gly477Ser)), NPR3(NM_001204375.2):c.1432G>A (p.G478S) - NPR3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1449A>G r.(?) p.(Ala483=) Unknown - likely benign g.32784924A>G - NPR3(NM_001204375.2):c.1449A>G (p.A483=) - NPR3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1464C>T r.(?) p.(Val488=) Unknown - benign g.32784939C>T - NPR3(NM_001204375.2):c.1464C>T (p.(Val488=), p.V488=) - NPR3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1464C>T r.(?) p.(Val488=) Unknown - likely benign g.32784939C>T - NPR3(NM_001204375.2):c.1464C>T (p.(Val488=), p.V488=) - NPR3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1514+7_1514+10del r.(=) p.(=) Unknown - likely benign g.32784996_32784999del - NPR3(NM_001204375.2):c.1514+7_1514+10delACGG - NPR3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1514+8C>T r.(=) p.(=) Unknown - likely benign g.32784997C>T g.32784891C>T NPR3(NM_000908.3):c.1511+8C>T (p.(=)) - NPR3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1524del r.(?) p.(Tyr508*) Maternal (confirmed) - pathogenic (recessive) g.32786349del g.32786243del NM_000908.3:c.1524delC - NPR3_000004 - - - rs753386861 CLASSIFICATION record yes - - - - DNA SEQ, SEQ-NG-I - WES ? - - - M no Netherlands white - - yes - 3 Eveline Boudin
./. - c.1524del r.(?) p.(Tyr508*) Maternal (confirmed) - pathogenic g.32786349del g.32786243del NM_000908.3:c.1521delC - NPR3_000004 - - - rs753386861 Germline yes - - - - DNA SEQ, SEQ-NG-I - WES ? - - - M no Netherlands white - - - - 1 Eveline Boudin
+?/. - c.1549del r.(?) p.(Gln517Serfs*24) Unknown - likely pathogenic g.32786374del - NPR3(NM_001204375.2):c.1549delC (p.Q517Sfs*24) - NPR3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1588C>T r.(?) p.(Arg530Trp) Unknown - VUS g.32786413C>T - NPR3(NM_001204375.2):c.1588C>T (p.R530W, p.(Arg530Trp)) - NPR3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1588C>T r.(?) p.(Arg530Trp) Unknown - likely benign g.32786413C>T - NPR3(NM_001204375.2):c.1588C>T (p.R530W, p.(Arg530Trp)) - NPR3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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