Full data view for gene NLRP7

Information The variants shown are described using the NM_001127255.1 transcript reference sequence.

118 entries on 2 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     
+?/. _1_10i c.-13413_2982-344del r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.55435600_55472226del g.54924232_54960858del -76-13337_2982-344del36627 - NLRP7_000026 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 - F ? Mexico - - - - - 1 Rima Slim
+?/. _1_5i c.-3998_2130-668del r.0? p.0? Both (homozygous) - likely pathogenic g.55448480_55462808del g.54937112_54951440del -76-3922_2130-668del14329 - NLRP7_000021 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 2-generation family, affected female with affected sister, unaffected heterozygous carrier parents F ? Iran - - - - - 2 Rima Slim
+?/. _1_10i c.-3998_2130-668del r.0? p.0? Both (homozygous) - likely pathogenic g.55448480_55462808del g.54937112_54951440del -76-3922_2130-668del14329 - NLRP7_000021 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 sister F - Iran - - - - - 1 Rima Slim
+?/. 1i_5i c.-40+251_2130-681del r.? p.? Paternal (confirmed) - likely pathogenic g.55448503_55458609del g.54937135_54947241del -40+251_2130-681del10107 - NLRP7_000019 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 2-generation family, affected female with 2 affected sisters, unaffected heterozygous carrier parents F ? Turkey - - - - - 3 Rima Slim
+?/. 1i_5i c.-40+251_2130-681del r.? p.? Paternal (confirmed) - likely pathogenic g.55448503_55458609del g.54937135_54947241del - - NLRP7_000022 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 sister 1 F ? Turkey - - - - - 1 Rima Slim
+?/. 1i_5i c.-40+251_2130-681del r.? p.? Paternal (confirmed) - likely pathogenic g.55448503_55458609del g.54937135_54947241del - - NLRP7_000022 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 sister 2 F ? Turkey Turkish - - - - 1 Rima Slim
+?/. 1i_5i c.-39-231_2130-510del r.0? p.0? Both (homozygous) - likely pathogenic g.55448352_55453392del g.54936984_54942024del -39-231_2130-510del5041 - NLRP7_000012 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 - F ? Turkey - - - - - 1 Rima Slim
-/. - c.-39-16C>T r.(=) p.(=) Unknown - benign g.55453134G>A g.54941766G>A NLRP7(NM_001127255.1):c.-39-16C>T, NLRP7(NM_001127255.2):c.-39-16C>T - NLRP7_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-39-16C>T r.(=) p.(=) Unknown - benign g.55453134G>A g.54941766G>A NLRP7(NM_001127255.1):c.-39-16C>T, NLRP7(NM_001127255.2):c.-39-16C>T - NLRP7_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1_2del r.(?) p.(Met1?) Unknown - VUS g.55453079_55453080del - NLRP7(NM_001127255.1):c.1_2delAT (p.(Met1fs)) - NLRP7_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.81C>G r.(?) p.(Ser27=) Unknown - likely benign g.55452999G>C g.54941631G>C NLRP7(NM_001127255.1):c.81C>G (p.S27=) - NLRP7_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.251G>A r.(?) p.(Cys84Tyr) Unknown - likely benign g.55452829C>T g.54941461C>T NLRP7(NM_001127255.1):c.251G>A (p.C84Y) - NLRP7_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.278-12A>C r.(=) p.(=) Unknown - likely benign g.55452385T>G g.54941017T>G NLRP7(NM_001127255.1):c.278-12A>C - NLRP7_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.278-10T>C r.(=) p.(=) Unknown - likely benign g.55452383A>G - NLRP7(NM_001127255.1):c.278-10T>C - NLRP7_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.352+103_352+104del r.(=) p.(=) Unknown - benign g.55452207_55452208del g.54940839_54940840del NLRP7(NM_001127255.1):c.352+103_352+104delTT - NLRP7_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.352+104del r.(=) p.(=) Unknown - benign g.55452208del g.54940840del NLRP7(NM_001127255.1):c.352+104delT - NLRP7_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.390G>A r.(?) p.(Gln130=) Unknown - benign g.55451797C>T g.54940429C>T NLRP7(NM_001127255.1):c.390G>A (p.Q130=), NLRP7(NM_001127255.2):c.390G>A (p.Q130=) - NLRP7_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.390G>A r.(?) p.(Gln130=) Unknown - benign g.55451797C>T g.54940429C>T NLRP7(NM_001127255.1):c.390G>A (p.Q130=), NLRP7(NM_001127255.2):c.390G>A (p.Q130=) - NLRP7_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.467G>A r.(?) p.(Arg156Gln) Unknown - benign g.55451720C>T g.54940352C>T NLRP7(NM_001127255.1):c.467G>A (p.R156Q) - NLRP7_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.531C>T r.(?) p.(His177=) Unknown - likely benign g.55451656G>A g.54940288G>A NLRP7(NM_001127255.1):c.531C>T (p.H177=) - NLRP7_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.531C>T r.(?) p.(His177=) Unknown - likely benign g.55451656G>A g.54940288G>A NLRP7(NM_001127255.1):c.531C>T (p.H177=) - NLRP7_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4 c.574A>C r.(574a>c) p.(Met192Leu) Unknown - likely benign g.55451613T>G g.54940245T>G - - NLRP7_000030 - - - rs104895529 Germline - - - - - DNA SEQ-NG - - ? - - - F no Germany - - - - - 1 Thomas Eggermann
-?/. - c.574A>C r.(?) p.(Met192Leu) Unknown - likely benign g.55451613T>G g.54940245T>G NLRP7(NM_001127255.1):c.574A>C (p.M192L) - NLRP7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.574A>C r.(?) p.(Met192Leu) Unknown - likely benign g.55451613T>G g.54940245T>G NLRP7(NM_001127255.1):c.574A>C (p.M192L) - NLRP7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.749T>G r.(?) p.(Phe250Cys) Unknown - VUS g.55451438A>C g.54940070A>C NLRP7(NM_001127255.2):c.749T>G (p.F250C) - NLRP7_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.749T>G r.(?) p.(Phe250Cys) Parent #1 - pathogenic (!) g.55451438A>C g.54940070A>C - - NLRP7_000077 variant affects embryonic imprinting PubMed: Begemann 2018 - rs78096121 Germline/De novo (untested) - - - - normal epigenotype DNA SEQ, SEQ-NG - WES MLID Fam7 PubMed: Begemann 2018 mother of affected child F - - - - - - - 2 Johan den Dunnen
+/. - c.749T>G r.(?) p.(Phe250Cys) Maternal (confirmed) - pathogenic (!) g.55451438A>C g.54940070A>C - - NLRP7_000077 variant affects embryonic imprinting PubMed: Begemann 2018 - rs78096121 Germline - - - - - DNA SEQ-NG - - MLID Fam7Pat PubMed: Begemann 2018 daughter F - - - - - - - 1 Johan den Dunnen
-?/. - c.929A>G r.(?) p.(Gln310Arg) Unknown - likely benign g.55451258T>C g.54939890T>C NLRP7(NM_001127255.1):c.929A>G (p.Q310R) - NLRP7_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.930G>T r.(?) p.(Gln310His) Unknown - likely benign g.55451257C>A g.54939889C>A NLRP7(NM_001127255.1):c.930G>T (p.Q310H), NLRP7(NM_001127255.2):c.930G>T (p.Q310H) - NLRP7_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.930G>T r.(?) p.(Gln310His) Unknown - likely benign g.55451257C>A g.54939889C>A NLRP7(NM_001127255.1):c.930G>T (p.Q310H), NLRP7(NM_001127255.2):c.930G>T (p.Q310H) - NLRP7_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.931C>A r.(?) p.(Leu311Ile) Unknown - benign g.55451256G>T g.54939888G>T NLRP7(NM_001127255.1):c.931C>A (p.L311I) - NLRP7_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.939_952dup r.(?) p.(Tyr318Cysfs*7) Parent #2 - likely pathogenic g.55451235_55451248dup g.54939867_54939880dup 939_952dup14 - NLRP7_000016 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 - F - France white - - - - 1 Rima Slim
-/. - c.955G>A r.(?) p.(Val319Ile) Unknown - benign g.55451232C>T g.54939864C>T NLRP7(NM_001127255.1):c.955G>A (p.V319I) - NLRP7_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1104T>C r.(?) p.(Ile368=) Unknown - benign g.55451083A>G g.54939715A>G NLRP7(NM_001127255.1):c.1104T>C (p.I368=) - NLRP7_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1104T>G r.(?) p.(Ile368Met) Unknown - VUS g.55451083A>C g.54939715A>C NLRP7(NM_001127255.1):c.1104T>G (p.I368M), NLRP7(NM_001127255.2):c.1104T>G (p.I368M) - NLRP7_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1104T>G r.(?) p.(Ile368Met) Unknown - VUS g.55451083A>C g.54939715A>C NLRP7(NM_001127255.1):c.1104T>G (p.I368M), NLRP7(NM_001127255.2):c.1104T>G (p.I368M) - NLRP7_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1104T>G r.(?) p.(Ile368Met) Parent #2 - pathogenic (!) g.55451083A>C g.54939715A>C - - NLRP7_000076 variant affects embryonic imprinting PubMed: Begemann 2018 - rs1654636 Germline/De novo (untested) - - - - normal epigenotype DNA SEQ, SEQ-NG - WES MLID Fam7 PubMed: Begemann 2018 mother of affected child F - - - - - - - 2 Johan den Dunnen
-/. - c.1137G>A r.(?) p.(Lys379=) Unknown - benign g.55451050C>T g.54939682C>T NLRP7(NM_001127255.1):c.1137G>A (p.K379=) - NLRP7_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1228G>T r.(?) p.(Gly410Cys) Unknown - VUS g.55450959C>A g.54939591C>A NLRP7(NM_001127255.1):c.1228G>T (p.G410C) - NLRP7_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1231G>A r.(?) p.(Ala411Thr) Unknown - likely benign g.55450956C>T g.54939588C>T NLRP7(NM_001127255.1):c.1231G>A (p.A411T) - NLRP7_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1278G>A r.(?) p.(Gln426=) Unknown - likely benign g.55450909C>T g.54939541C>T NLRP7(NM_001127255.1):c.1278G>A (p.Q426=) - NLRP7_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.1374_1375del r.(?) p.(Arg458Serfs*69) Both (homozygous) - likely pathogenic g.55450814_55450815del g.54939446_54939447del 1374_1375delAG - NLRP7_000002 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 - F - Egypt - - - - - 1 Rima Slim
?/. - c.1416G>T r.(?) p.(Gln472His) Unknown - VUS g.55450771C>A - NLRP7(NM_001127255.1):c.1416G>T (p.(Gln472His)) - NLRP7_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.1441G>A r.(?) p.(Ala481Thr) Unknown - VUS g.55450746C>T g.54939378C>T - - NLRP7_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.1441G>A r.(?) p.(Ala481Thr) Unknown - benign g.55450746C>T g.54939378C>T NLRP7(NM_001127255.1):c.1441G>A (p.A481T), NLRP7(NM_001127255.2):c.1441G>A (p.A481T) - NLRP7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1441G>A r.(?) p.(Ala481Thr) Unknown - benign g.55450746C>T g.54939378C>T NLRP7(NM_001127255.1):c.1441G>A (p.A481T), NLRP7(NM_001127255.2):c.1441G>A (p.A481T) - NLRP7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1460G>A r.(?) p.(Gly487Glu) Unknown - likely benign g.55450727C>T g.54939359C>T NLRP7(NM_001127255.1):c.1460G>A (p.G487E) - NLRP7_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1491C>T r.(?) p.(Ile497=) Unknown - benign g.55450696G>A g.54939328G>A NLRP7(NM_001127255.1):c.1491C>T (p.I497=) - NLRP7_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1532A>G r.(?) p.(Lys511Arg) Unknown - benign g.55450655T>C g.54939287T>C NLRP7(NM_001127255.1):c.1532A>G (p.K511R) - NLRP7_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1587G>T r.(?) p.(Lys529Asn) Unknown ACMG VUS g.55450600C>A g.54939232C>A - - NLRP7_000083 - - - rs746360182 Germline/De novo (untested) - - - - - DNA SEQ-NG lymphocytes - TS14 - - - F no Germany - - - - - 1 Thomas Eggermann
-/. - c.1725G>T r.(?) p.(Leu575=) Unknown - benign g.55450462C>A g.54939094C>A NLRP7(NM_001127255.1):c.1725G>T (p.L575=) - NLRP7_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1743G>A r.(?) p.(Glu581=) Unknown - likely benign g.55450444C>T g.54939076C>T NLRP7(NM_001127255.1):c.1743G>A (p.E581=) - NLRP7_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1752G>A r.(?) p.(Ala584=) Unknown - likely benign g.55450435C>T g.54939067C>T NLRP7(NM_001127255.1):c.1752G>A (p.A584=) - NLRP7_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.1908dup r.(?) p.(Glu637*) Parent #1 - likely pathogenic g.55450282dup g.54938914dup - - NLRP7_000003 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 - F - France white - - - - 1 Rima Slim
-?/. - c.1952C>T r.(?) p.(Pro651Leu) Unknown - likely benign g.55449589G>A g.54938221G>A NLRP7(NM_001127255.1):c.1952C>T (p.P651L) - NLRP7_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1952C>T r.(?) p.(Pro651Leu) Unknown - likely benign g.55449589G>A g.54938221G>A NLRP7(NM_001127255.1):c.1952C>T (p.P651L) - NLRP7_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1952C>T r.(?) p.(Pro651Leu) Unknown - VUS g.55449589G>A - NLRP7(NM_001127255.1):c.1952C>T (p.P651L) - NLRP7_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.2010_2011del r.(?) p.(Phe671Glnfs*18) Paternal (confirmed) - likely pathogenic g.55449536_55449537del g.54938168_54938169del g.54938162_54938163del - NLRP7_000029 - - - - Germline - - - - - DNA SEQ-NG lymphocytes - ? - - - F no Germany - - - - - 1 Thomas Eggermann
+?/. - c.2077C>T r.(?) p.(Arg693Trp) Unknown - likely pathogenic g.55449464G>A g.54938096G>A NLRP7(NM_001127255.1):c.2077C>T (p.R693W) - NLRP7_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2077C>T r.(?) p.(Arg693Trp) Unknown - pathogenic g.55449464G>A - NLRP7(NM_001127255.1):c.2077C>T (p.R693W) - NLRP7_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.2078G>C r.(?) p.(Arg693Pro) Paternal (confirmed) - pathogenic g.55449463C>G g.54938095C>G - - NLRP7_000005 - PubMed: Akoury 2015, Journal: Akoury 2015 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Akoury 2015, Journal: Akoury 2015 2-generation family, unaffected heterozygous carrier parents F no India - >27y - - assisted reproductive technology 1 Johan den Dunnen
+/. 5 c.2078G>C r.(?) p.(Arg693Pro) Both (homozygous) - pathogenic g.55449463C>G g.54938095C>G - - NLRP7_000017 - PubMed: Akoury 2015, Journal: Akoury 2015 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Akoury 2015, Journal: Akoury 2015 2-generation family, unaffected heterozygous carrier parents F - India - >27y - - assisted reproductive technology 1 Johan den Dunnen
+/. 5 c.2078G>C r.(?) p.(Arg693Pro) Parent #1 - pathogenic g.55449463C>G g.54938095C>G - - NLRP7_000005 origin determined from cloning genomic segment PubMed: Akoury 2015, Journal: Akoury 2015 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Slim 2009, PubMed: Akoury 2015, Journal: Akoury 2015 2-generation family, unaffected heterozygous carrier parents F no India - >30y - - - 1 Johan den Dunnen
-?/. - c.2094C>T r.(?) p.(His698=) Unknown - likely benign g.55449447G>A g.54938079G>A NLRP7(NM_001127255.1):c.2094C>T (p.H698=) - NLRP7_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2094C>T r.(?) p.(His698=) Unknown - likely benign g.55449447G>A g.54938079G>A NLRP7(NM_001127255.1):c.2094C>T (p.H698=) - NLRP7_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2095G>A r.(?) p.(Val699Ile) Unknown - likely benign g.55449446C>T g.54938078C>T NLRP7(NM_001127255.1):c.2095G>A (p.V699I) - NLRP7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2095G>A r.(?) p.(Val699Ile) Unknown - benign g.55449446C>T g.54938078C>T NLRP7(NM_001127255.1):c.2095G>A (p.V699I) - NLRP7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2129+6T>C r.(=) p.(=) Unknown - benign g.55449406A>G g.54938038A>G NLRP7(NM_001127255.1):c.2129+6T>C - NLRP7_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5i_6i c.2130-266_2300+782del r.(del) p.(Ile711_Arg767del) Both (homozygous) - likely pathogenic g.55446884_55448102del g.54935516_54936734del 2130-266_2300+782del1219 - NLRP7_000013 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 2-generation family, affected female with affected sister, unaffected heterozygous carrier parents F ? Syria - - - - - 2 Rima Slim
+?/. 5i_6i c.2130-266_2300+782del r.(del) p.(Ile711_Arg767del) Both (homozygous) - likely pathogenic g.55446884_55448102del g.54935516_54936734del 2130-266_2300+782del1219 - NLRP7_000013 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 sister F ? Syria - - - - - 1 Rima Slim
-?/. - c.2130-107A>T r.(=) p.(=) Unknown - likely benign g.55447906T>A g.54936538T>A NLRP7(NM_001127255.1):c.2130-107A>T - NLRP7_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5i_6 c.2130-6_2132del r.spl p.? Parent #1 - likely pathogenic g.55447798_55447806del g.54936430_54936438del - - NLRP7_000027 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 - F ? United States white - - - - 1 Rima Slim
-?/. - c.2156C>T r.(?) p.(Ala719Val) Unknown - likely benign g.55447773G>A g.54936405G>A NLRP7(NM_001127255.1):c.2156C>T (p.A719V) - NLRP7_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2156C>T r.(?) p.(Ala719Val) Parent #1 - pathogenic (!) g.55447773G>A g.54936405G>A - - NLRP7_000071 variant affects embryonic imprinting PubMed: Begemann 2018 - rs104895526 Germline/De novo (untested) - - - - normal epigenotype DNA SEQ, SEQ-NG - WES MLID Fam8 PubMed: Begemann 2018 mother of affected child F - - - - - - - 2 Johan den Dunnen
+/. - c.2156C>T r.(?) p.(Ala719Val) Maternal (confirmed) - pathogenic (!) g.55447773G>A g.54936405G>A - - NLRP7_000071 variant affects embryonic imprinting PubMed: Begemann 2018 - - Germline - - - - - DNA SEQ-NG - - MLID Fam8Pat PubMed: Begemann 2018 son M - - - - - - - 1 Johan den Dunnen
-?/. - c.2157G>A r.(?) p.(Ala719=) Unknown - likely benign g.55447772C>T g.54936404C>T NLRP7(NM_001127255.1):c.2157G>A (p.A719=) - NLRP7_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.2161C>T r.(?) p.(Arg721Trp) Parent #2 - likely pathogenic g.55447768G>A g.54936400G>A - - NLRP7_000018 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 - F - France white - - - - 1 Rima Slim
?/. - c.2161C>T r.(?) p.(Arg721Trp) Maternal (confirmed) - VUS (!) g.55447768G>A g.54936400G>A - - NLRP7_000018 variant may affect embryonic imprinting PubMed: Begemann 2018 - rs104895525 Germline/De novo (untested) - - - - normal epigenotype DNA SEQ, SEQ-NG - WES MLID Fam6 PubMed: Begemann 2018 mother of affected child F - - - - - - - 3 Johan den Dunnen
?/. - c.2161C>T r.(?) p.(Arg721Trp) Maternal (confirmed) - VUS (!) g.55447768G>A g.54936400G>A - - NLRP7_000018 variant may affect embryonic imprinting PubMed: Begemann 2018 - - Germline/De novo (untested) - - - - normal epigenotype DNA SEQ, SEQ-NG - WES MLID Fam6sister PubMed: Begemann 2018 sister - - - - - - - - 2 Johan den Dunnen
+/. - c.2161C>T r.(?) p.(Arg721Trp) Maternal (confirmed) - pathogenic (!) g.55447768G>A g.54936400G>A - - NLRP7_000018 variant affects embryonic imprinting PubMed: Begemann 2018 - - Germline - - - - - DNA SEQ-NG - - MLID Fam6Pat PubMed: Begemann 2018 fetus - - - - - - - - 1 Johan den Dunnen
+?/. 6 c.2248C>G r.(?) p.(Leu750Val) Paternal (confirmed) - likely pathogenic g.55447681G>C g.54936313G>C - - NLRP7_000024 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 - F ? Mexico - - - - - 1 Rima Slim
+?/. 6 c.2248C>G r.(?) p.(Leu750Val) Parent #1 - likely pathogenic g.55447681G>C g.54936313G>C - - NLRP7_000024 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 - F ? Mexico - - - - - 1 Rima Slim
-/. - c.2300+12G>A r.(=) p.(=) Unknown - benign g.55447617C>T g.54936249C>T NLRP7(NM_001127255.1):c.2300+12G>A - NLRP7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2300+17C>A r.(=) p.(=) Unknown - benign g.55447612G>T g.54936244G>T NLRP7(NM_001127255.1):c.2300+17C>A - NLRP7_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2301-58del r.(=) p.(=) Unknown - likely benign g.55446095del g.54934727del NLRP7(NM_001127255.1):c.2301-58delA - NLRP7_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2325G>A r.(?) p.(Pro775=) Unknown - benign g.55446003C>T g.54934635C>T NLRP7(NM_001127255.1):c.2325G>A (p.P775=) - NLRP7_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2384G>A r.(?) p.(Arg795His) Unknown - likely benign g.55445944C>T g.54934576C>T NLRP7(NM_001127255.1):c.2384G>A (p.R795H) - NLRP7_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2471+1G>A r.spl? p.? Unknown - pathogenic g.55445856C>T - - - NLRP7_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2471+80dup r.(=) p.(=) Unknown - benign g.55445777dup g.54934409dup NLRP7(NM_001127255.1):c.2471+80dupG - NLRP7_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2471+81_2471+82insG r.(=) p.(=) Unknown - likely benign g.55445775_55445776insC g.54934407_54934408insC NLRP7(NM_001127255.1):c.2471+81_2471+82insG - NLRP7_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2471+129G>A r.(=) p.(=) Unknown - benign g.55445728C>T g.54934360C>T NLRP7(NM_001127255.1):c.2471+129G>A - NLRP7_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.2571dup r.(?) p.(Ile858Hisfs*11) Maternal (confirmed) - likely pathogenic g.55445011dup g.54933643dup - - NLRP7_000020 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 2-generation family, affected female with 2 affected sisters, unaffected heterozygous carrier parents F ? Turkey - - - - - 3 Rima Slim
+?/. 8 c.2571dup r.(?) p.(Ile858Hisfs*11) Maternal (confirmed) - likely pathogenic g.55445011dup g.54933643dup - - NLRP7_000020 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 sister 1 F ? Turkey - - - - - 1 Rima Slim
+?/. 8 c.2571dup r.(?) p.(Ile858Hisfs*11) Maternal (confirmed) - likely pathogenic g.55445011dup g.54933643dup - - NLRP7_000020 - PubMed: Reddy 2016, Journal: Reddy 2016 - - Germline yes - - - - DNA SEQ - - HYDM1 - PubMed: Reddy 2016, Journal: Reddy 2016 sister 2 F ? Turkey Turkish - - - - 1 Rima Slim
?/. - c.2573T>C r.(?) p.(Ile858Thr) Paternal (inferred) - VUS (!) g.55445006A>G g.54933638A>G - - NLRP7_000086 variant may affect embryonic imprinting PubMed: Begemann 2018 - - Germline - - - - multilocus imprinting disturbances; hypomethylation GRB10, MEST, KCNQ1OT1 DNA SEQ, SEQ-NG - WES MLID Fam6 PubMed: Begemann 2018 mother of affected child F - - - - - - - 3 Johan den Dunnen
?/. - c.2573T>C r.(?) p.(Ile858Thr) Paternal (inferred) - VUS (!) g.55445006A>G g.54933638A>G - - NLRP7_000086 variant may affect embryonic imprinting PubMed: Begemann 2018 - rs776102152 Germline - - - - multilocus imprinting disturbances; hypomethylation GRB10, MEST, KCNQ1OT1 DNA SEQ, SEQ-NG - WES MLID Fam6sister PubMed: Begemann 2018 sister - - - - - - - - 2 Johan den Dunnen
-/. - c.2642+29_2642+30del r.(=) p.(=) Unknown - benign g.55444920_55444921del g.54933552_54933553del NLRP7(NM_001127255.1):c.2642+29_2642+30delTG - NLRP7_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9 c.2682T= r.(?) p.(=) Parent #2 - benign g.55441995A= - - - NLRP7_000006 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Akoury 2015, Journal: Akoury 2015 - rs269951 Germline - - - - - DNA SEQ - - HYDM1 - PubMed: Slim 2009, PubMed: Akoury 2015, Journal: Akoury 2015 2-generation family, unaffected heterozygous carrier parents F no India - >30y - - - 1 Johan den Dunnen
-/. - c.2682T>C r.(?) p.(Tyr894=) Unknown - benign g.55441995A>G g.54930627A>G NLRP7(NM_001127255.1):c.2682T>C (p.Y894=), NLRP7(NM_001127255.2):c.2682T>C (p.Y894=) - NLRP7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2682T>C r.(?) p.(Tyr894=) Unknown - benign g.55441995A>G g.54930627A>G NLRP7(NM_001127255.1):c.2682T>C (p.Y894=), NLRP7(NM_001127255.2):c.2682T>C (p.Y894=) - NLRP7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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