Full data view for gene NLRP5

Information The variants shown are described using the NM_153447.4 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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     

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Age at death     

VIP     

Data_av     

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Owner     
?/. 2 c.68T>A r.(?) p.(Val23Asp) Unknown - VUS g.56515087T>A g.56003721T>A - - NLRP5_000001 - - - rs753824534 Germline - - - - - DNA SEQ-NG-I lymphocytes - - - - - - - - - - - - - 1 Thomas Eggermann
+/. - c.155T>C r.(?) p.(Met52Thr) Maternal (confirmed) - pathogenic (!) g.56515174T>C g.56003808T>C - - NLRP5_000021 variant affects embryonic imprinting PubMed: Docherty 2015 - - Germline - - - - multilocus imprinting disturbances DNA SEQ, SEQ-NG - WES MLID Fam3PatII2 PubMed: Docherty 2015 son M - - - - - - - 1 Johan den Dunnen
+/? - c.155T>C r.(?) p.(Met52Thr) Parent #1 - pathogenic (!) g.56515174T>C g.56003808T>C - - NLRP5_000021 variant affects embryonic imprinting PubMed: Docherty 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control Fam3 PubMed: Docherty 2015 mother of affected child; no methylation disturbances F - - - - - - - 2 Johan den Dunnen
+?/. - c.218_238dup r.(?) p.(Thr79_Phe80insTyrLysGluGluPheGlnThr) Maternal (confirmed) ACMG VUS g.56515237_56515257dup g.56003871_56003891dup - - NLRP5_000032 - - - - Germline - - - - - DNA SEQ-NG-I - - OZEMA19 - - - F - - - - - - - 1 Changlong Zhang
+/? - c.226G>C r.(?) p.(Glu76Gln) Maternal (confirmed) - pathogenic (!) g.56515245G>C g.56003879G>C - - NLRP5_000022 variant affects embryonic imprinting PubMed: Docherty 2015 - - Germline - - - - multilocus imprinting disturbances DNA SEQ, SEQ-NG - WES MLID Fam3PatII2 PubMed: Docherty 2015 son M - - - - - - - 1 Johan den Dunnen
+/? - c.226G>C r.(?) p.(Glu76Gln) Parent #1 - pathogenic (!) g.56515245G>C g.56003879G>C - - NLRP5_000022 variant affects embryonic imprinting PubMed: Docherty 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control Fam3 PubMed: Docherty 2015 mother of affected child; no methylation disturbances F - - - - - - - 2 Johan den Dunnen
+/. - c.292C>T r.(?) p.(Gln98Ter) Parent #1 - pathogenic (recessive) g.56515311C>T g.56003945C>T - - NLRP5_000013 - PubMed: Mu 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES INFF Fam6PatII1 PubMed: Mu 2019 2-generation family, 2 affected sisters, unaffected parents F - China - - - - - 2 Johan den Dunnen
+/. - c.292C>T r.(?) p.(Gln98Ter) Parent #1 - pathogenic (recessive) g.56515311C>T g.56003945C>T - - NLRP5_000013 - PubMed: Mu 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES INFF Fam6PatII2 PubMed: Mu 2019 sister F - China - - - - - 1 Johan den Dunnen
-?/. - c.407G>A r.(?) p.(Arg136Gln) Unknown - likely benign g.56515426G>A g.56004060G>A NLRP5(NM_153447.4):c.407G>A (p.(Arg136Gln)) - NLRP5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.866G>A r.(?) p.(Gly289Glu) Maternal (confirmed) - pathogenic (recessive) g.56538465G>A g.56027099G>A - - NLRP5_000014 - PubMed: Mu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFF FamPat7 PubMed: Mu 2019 3-generation family, 1 affected, unaffected parents F - China - - - - - 1 Johan den Dunnen
+?/. - c.878C>T r.(?) p.(Ser293Leu) Unknown ACMG VUS g.56538477C>T g.56027111C>T - - NLRP5_000033 - - - - De novo - - - - - DNA SEQ-NG-I - - OZEMA19 - - - - - - - - - - - 1 Changlong Zhang
+/. - c.971T>A r.(?) p.(Met324Lys) Paternal (confirmed) - pathogenic (recessive) g.56538570T>A g.56027204T>A - - NLRP5_000026 - PubMed: Tong 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFF Fam2 PubMed: Tong 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+?/. - c.1061C>T r.(?) p.(Pro354Leu) Maternal (confirmed) - likely pathogenic (recessive) g.56538660C>T g.56027294C>T - - NLRP5_000034 no variant 2nd chromosome reported - - - Germline - - - - - DNA SEQ-NG-I - - OZEMA19 - - - - - - - - - - - 1 Changlong Zhang
?/. - c.1066A>G r.(?) p.(Arg356Gly) Unknown - VUS g.56538665A>G g.56027299A>G NLRP5(NM_153447.4):c.1066A>G (p.R356G) - NLRP5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? - c.1158_1160dup r.(?) p.(Pro387dup) Unknown - pathogenic (!) g.56538755_56538757dup g.56027391_56027393dup 1156_1158dupCCT - NLRP5_000023 variant affects embryonic imprinting PubMed: Docherty 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control Fam4 PubMed: Docherty 2015 mother of affected child; no methylation disturbances F - Germany - - - - - 2 Johan den Dunnen
+?/. - c.1192G>A r.(?) p.(Val398Ile) Unknown ACMG VUS g.56538791G>A g.56027425G>A - - NLRP5_000035 - - - - Germline - - - - - DNA SEQ-NG-I - - OZEMA19 - - - - - - - - - - - 1 Changlong Zhang
+/. - c.1202C>T r.(?) p.(Pro401Leu) Paternal (confirmed) - pathogenic (recessive) g.56538801C>T g.56027435C>T - - NLRP5_000030 - PubMed: Tong 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES INFF Fam4Pat4 PubMed: Tong 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - 2 Johan den Dunnen
+/. - c.1202C>T r.(?) p.(Pro401Leu) Paternal (confirmed) - pathogenic (recessive) g.56538801C>T g.56027435C>T - - NLRP5_000030 - PubMed: Tong 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFF Fam4Pat5 PubMed: Tong 2022 sister F - China - - - - - 1 Johan den Dunnen
+/. - c.1286_1289del r.(?) p.(Val429Glufs*30) Both (homozygous) - pathogenic (recessive) g.56538885_56538888del g.56027519_56027522del - - NLRP5_000025 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFF Pat1 PubMed: Huang 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes China - - - - - 1 Johan den Dunnen
+?/. - c.1286_1289del r.(?) p.(Val429Glufs*30) Unknown ACMG likely pathogenic (recessive) g.56538885_56538888del g.56027519_56027522del - - NLRP5_000025 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OZEMA19 - - - - - - - - - - - 1 Changlong Zhang
+?/. - c.1398C>A r.(?) p.(Asp466Glu) Unknown - VUS g.56538997C>A g.56027631C>A - - NLRP5_000036 - - - - Germline - - - - - DNA SEQ-NG-I - - OZEMA19 - - - - - - - - - - - 1 Changlong Zhang
+/. - c.1575_1576del r.(?) p.(Arg525Serfs*17) Maternal (confirmed) - pathogenic (recessive) g.56539174_56539175del g.56027808_56027809del 1575_1576delAG - NLRP5_000029 - PubMed: Tong 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFF Fam3 PubMed: Tong 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.1575_1576del r.(?) p.(Arg525Serfs*17) Maternal (confirmed) ACMG likely pathogenic g.56539174_56539175del g.56027808_56027809del - - NLRP5_000029 - - - - Germline - - - - - DNA SEQ-NG-I - - OZEMA19 - - - - - - - - - - - 1 Changlong Zhang
+/? - c.1664G>T r.(?) p.(Gly555Val) Parent #1 - pathogenic (!) g.56539263G>T g.56027897G>T - - NLRP5_000017 variant affects embryonic imprinting PubMed: Docherty 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control Fam1 PubMed: Docherty 2015 mother of 2 affected children (F, M), 6 pregnancy losses and one termination (presumed molar pregnancy), with three unrelated partners; no methylation disturbances F - - - - - - - 3 Johan den Dunnen
+/? - c.1664G>T r.(?) p.(Gly555Val) Maternal (confirmed) - pathogenic (!) g.56539263G>T g.56027897G>T - - NLRP5_000017 variant affects embryonic imprinting PubMed: Docherty 2015 - - Germline - - - - multilocus imprinting disturbances DNA SEQ, SEQ-NG - WES MLID Fam1PatII8 PubMed: Docherty 2015 son M - - - - - - - 1 Johan den Dunnen
-?/. - c.1685G>A r.(?) p.(Arg562His) Unknown - likely benign g.56539284G>A - NLRP5(NM_153447.4):c.1685G>A (p.(Arg562His)) - NLRP5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? - c.1699A>G r.(?) p.(Met567Val) Both (homozygous) - pathogenic (!) g.56539298A>G g.56027932A>G - - NLRP5_000024 variant affects embryonic imprinting see paper; ..., Silver Russel syndrome (multilocus imprinting disturbances) - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control Fam5 PubMed: Docherty 2015 mother of affected child; no methylation disturbances F - - - - - - - 2 Johan den Dunnen
+/? - c.1699A>G r.(?) p.(Met567Val) Maternal (confirmed) - pathogenic (!) g.56539298A>G g.56027932A>G - - NLRP5_000024 variant affects embryonic imprinting see paper; ..., Silver Russel syndrome (multilocus imprinting disturbances) - - Germline - - - - multilocus imprinting disturbances DNA SEQ, SEQ-NG - WES MLID Fam5PatII3 PubMed: Balpe 2011, PubMed: Docherty 2015 daughter F - - - - - - - 1 Johan den Dunnen
-?/. - c.1728T>C r.(?) p.(Cys576=) Unknown - likely benign g.56539327T>C g.56027961T>C NLRP5(NM_153447.4):c.1728T>C (p.C576=) - NLRP5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1768T>C r.(?) p.(Phe590Leu) Both (homozygous) - VUS g.56539367T>C g.56028001T>C - - NLRP5_000037 - - - - Germline - - - - - DNA SEQ-NG-I - - OZEMA19 - - - F - - - - - - - 1 Changlong Zhang
+/. - c.1830_1831del r.(?) p.(Tyr611Argfs*2) Paternal (confirmed) - pathogenic (recessive) g.56539429_56539430del g.56028063_56028064del 1830_1831delGT - NLRP5_000028 - PubMed: Tong 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFF Fam3 PubMed: Tong 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+?/. - c.2077G>A r.(?) p.(Glu693Lys) Unknown ACMG VUS g.56539676G>A g.56028310G>A - - NLRP5_000038 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OZEMA19 - - - - - - - - - - - 1 Changlong Zhang
+/. - c.2081C>T r.(?) p.(Thr694Ile) Parent #2 - pathogenic (recessive) g.56539680C>T g.56028314C>T - - NLRP5_000015 - PubMed: Mu 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES INFF Fam6PatII1 PubMed: Mu 2019 2-generation family, 2 affected sisters, unaffected parents F - China - - - - - 2 Johan den Dunnen
+/. - c.2081C>T r.(?) p.(Thr694Ile) Parent #2 - pathogenic (recessive) g.56539680C>T g.56028314C>T - - NLRP5_000015 - PubMed: Mu 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES INFF Fam6PatII2 PubMed: Mu 2019 sister F - China - - - - - 1 Johan den Dunnen
+?/. - c.2209C>T r.(?) p.(Arg737Trp) Paternal (confirmed) - VUS g.56539808C>T g.56028442C>T - - NLRP5_000039 - - - - Germline - - - - - DNA SEQ-NG-I - - OZEMA19 - - - F - - - - - - - 1 Changlong Zhang
+/? - c.2320T>C r.(?) p.(Cys774Arg) Maternal (confirmed) - pathogenic (!) g.56544020T>C g.56032654T>C - - NLRP5_000018 variant affects embryonic imprinting PubMed: Docherty 2015 - - Germline - rs370837790 - - multilocus imprinting disturbances DNA SEQ, SEQ-NG - WES MLID Fam1PatII2 PubMed: Docherty 2015 daughter F - - - - - - - 1 Johan den Dunnen
+/? - c.2320T>C r.(?) p.(Cys774Arg) Parent #2 - pathogenic (!) g.56544020T>C g.56032654T>C - - NLRP5_000018 variant affects embryonic imprinting PubMed: Docherty 2015 - rs370837790 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control Fam1 PubMed: Docherty 2015 mother of 2 affected children (F, M), 6 pregnancy losses and one termination (presumed molar pregnancy), with three unrelated partners; no methylation disturbances F - - - - - - - 3 Johan den Dunnen
-?/. - c.2350C>A r.(?) p.(Arg784=) Unknown - likely benign g.56544050C>A - NLRP5(NM_153447.4):c.2350C>A (p.R784=) - NLRP5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2351G>A r.(?) p.(Arg784Gln) Unknown - VUS g.56544051G>A g.56032685G>A - - NLRP5_000040 - - - - Germline - - - - - DNA SEQ-NG-I - - OZEMA19 - - - - - - - - - - - 1 Changlong Zhang
+?/. - c.2351G>A r.(?) p.(Arg784Gln) Unknown ACMG VUS g.56544051G>A g.56032685G>A - - NLRP5_000040 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OZEMA19 - - - - - - - - - - - 1 Changlong Zhang
+/? - c.2353C>T r.(?) p.(Gln785*) Paternal (confirmed) - pathogenic (!) g.56544053C>T g.56032687C>T - - NLRP5_000019 variant affects embryonic imprinting PubMed: Docherty 2015 - rs200446614 Germline - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control Fam2 PubMed: Docherty 2015 mother of 2 affected children (2M), 4 pregnancy losses; no methylation disturbances F - - - - - - - 3 Johan den Dunnen
+/? - c.2353C>T r.(?) p.(Gln785*) Maternal (confirmed) - pathogenic (!) g.56544053C>T g.56032687C>T - - NLRP5_000019 variant affects embryonic imprinting PubMed: Docherty 2015 - rs200446614 Germline - - - - multilocus imprinting disturbances DNA SEQ, SEQ-NG - WES MLID Fam2PatII4 PubMed: Docherty 2015 son M - - - - - - - 1 Johan den Dunnen
+/? - c.2353C>T r.(?) p.(Gln785*) Maternal (confirmed) - pathogenic (!) g.56544053C>T g.56032687C>T - - NLRP5_000019 variant affects embryonic imprinting PubMed: Docherty 2015 - rs200446614 Germline - - - - multilocus imprinting disturbances DNA SEQ, SEQ-NG - WES MLID Fam2PatII8 PubMed: Docherty 2015 son M - - - - - - - 1 Johan den Dunnen
+/. - c.2378T>G r.(?) p.(Leu793Arg) Maternal (confirmed) - pathogenic (recessive) g.56544078T>G g.56032712T>G - - NLRP5_000031 - PubMed: Tong 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFF Fam4Pat4 PubMed: Tong 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - 2 Johan den Dunnen
+/. - c.2378T>G r.(?) p.(Leu793Arg) Maternal (confirmed) - pathogenic (recessive) g.56544078T>G g.56032712T>G - - NLRP5_000031 - PubMed: Tong 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFF Fam4Pat5 PubMed: Tong 2022 sister F - China - - - - - 1 Johan den Dunnen
-?/. - c.2446A>T r.(?) p.(Met816Leu) Unknown - likely benign g.56544146A>T g.56032780A>T NLRP5(NM_153447.4):c.2446A>T (p.(Met816Leu)) - NLRP5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2569G>A r.(?) p.(Ala857Thr) Unknown - likely benign g.56545029G>A g.56033663G>A NLRP5(NM_153447.4):c.2569G>A (p.(Ala857Thr)) - NLRP5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2825G>A r.(?) p.(Ser942Asn) Unknown - likely benign g.56552326G>A g.56040960G>A NLRP5(NM_153447.4):c.2825G>A (p.(Ser942Asn)) - NLRP5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? - c.2840T>C r.(?) p.(Leu947Pro) Maternal (confirmed) - pathogenic (!) g.56552341T>C g.56040975T>C - - NLRP5_000020 variant affects embryonic imprinting PubMed: Docherty 2015 - rs202181446 Germline - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control Fam2 PubMed: Docherty 2015 mother of 2 affected children (2M), 4 pregnancy losses; no methylation disturbances F - - - - - - - 3 Johan den Dunnen
?/. - c.3259G>A r.(?) p.(Glu1087Lys) Unknown - VUS g.56565134G>A g.56053768G>A - - NLRP5_000002 - - - rs762535392 Germline - - - - altered methylation in the child DNA SEQ-NG-I lymphocytes - SRS;RSS SRS-38M - - F ? Germany - - - - - 1 Thomas Eggermann
+/. - c.3320C>T r.(?) p.(Thr1107Ile) Paternal (confirmed) - pathogenic (recessive) g.56569626C>T g.56058260C>T - - NLRP5_000016 - PubMed: Mu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFF FamPat7 PubMed: Mu 2019 3-generation family, 1 affected, unaffected parents F - China - - - - - 1 Johan den Dunnen
+/. - c.3341T>C r.(?) p.(Leu1114Pro) Maternal (confirmed) - pathogenic (recessive) g.56569647T>C g.56058281T>C - - NLRP5_000027 - PubMed: Tong 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFF Fam2 PubMed: Tong 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
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