Full data view for gene MEFV

In collaboration with the Infevers autoinflammatory disorders (AID) databases.
Information The variants shown are described using the NM_000243.2 transcript reference sequence.

561 entries on 6 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.-330G>A - r.(?) - Parent #1 g.3306917C>T g.3256917C>T - - MEFV_000010 copy from Infevers database Data from Infevers database ID: 562 - - Germline - - - 0 - DNA SEQ - - FMF - Data from Infevers database ID: 562 copied from Infevers - - - - - 0 - - 1 Isabelle Touitou
?/. 1 c.-12C>G - r.(?) - Parent #1 g.3306599G>C g.3256599G>C - - MEFV_000002 copy from Infevers database Data from Infevers database ID: 436 - - Germline - - - 0 - DNA SEQ - - FMF - Data from Infevers database ID: 436 copied from Infevers - - - - - 0 - - 1 Isabelle Touitou
?/. - c.-12C>G VUS r.(?) p.(=) Unknown g.3306599G>C - MEFV(NM_000243.2):c.-12C>G - MEFV_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.25C>T - r.(?) p.(=) Parent #1 g.3306563G>A g.3256563G>A - - MEFV_000003 copy from Infevers database Data from Infevers database ID: 432 - - Germline - - - 0 - DNA SEQ - - FMF - Data from Infevers database ID: 432 copied from Infevers - - - - - 0 - - 1 Isabelle Touitou
-?/. - c.25C>T likely benign r.(?) p.(=) Unknown g.3306563G>A - MEFV(NM_000243.2):c.25C>T (p.L9=) - MEFV_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.35C>T VUS r.(?) p.(Thr12Ile) Unknown g.3306553G>A - MEFV(NM_000243.2):c.35C>T (p.T12I) - MEFV_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.56A>G VUS r.(?) p.(Tyr19Cys) Unknown g.3306532T>C - MEFV(NM_000243.2):c.56A>G (p.Y19C) - MEFV_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.74A>G VUS r.(?) p.(Lys25Arg) Unknown g.3306514T>C - MEFV(NM_000243.2):c.74A>G (p.K25R) - MEFV_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.115A>G VUS r.(?) p.(Arg39Gly) Unknown g.3306473T>C - MEFV(NM_000243.2):c.115A>G (p.R39G) - MEFV_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.124C>T - r.(?) p.(Arg42Trp) Unknown g.3306464G>A g.3256464G>A - - MEFV_000004 - - - - Unknown - - - 0 - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 1 c.124C>T - r.(?) p.(Arg42Trp) Parent #1 g.3306464G>A g.3256464G>A - - MEFV_000004 copy from Infevers database Data from Infevers database ID: 8 - - Germline - - - 0 - DNA SEQ - - FMF - Data from Infevers database ID: 8 copied from Infevers - - - - - 0 - - 1 Isabelle Touitou
?/. - c.124C>T VUS r.(?) p.(Arg42Trp) Unknown g.3306464G>A - MEFV(NM_000243.2):c.124C>T (p.R42W) - MEFV_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.171G>A likely benign r.(?) p.(=) Unknown g.3306417C>T - MEFV(NM_000243.2):c.171G>A (p.L57=) - MEFV_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.195C>T - r.(?) p.(=) Parent #1 g.3306393G>A g.3256393G>A - - MEFV_000005 copy from Infevers database Data from Infevers database ID: 9 - - Germline - - - 0 - DNA SEQ - - FMF - Data from Infevers database ID: 9 copied from Infevers - - - - - 0 - - 1 Isabelle Touitou
-?/. - c.195C>T likely benign r.(?) p.(=) Unknown g.3306393G>A - MEFV(NM_000243.2):c.195C>T (p.Y65=) - MEFV_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.248C>G VUS r.(?) p.(Ala83Gly) Unknown g.3306340G>C - MEFV(NM_000243.2):c.248C>G (p.A83G) - MEFV_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.250G>A - r.(?) p.(Glu84Lys) Parent #1 g.3306338C>T g.3256338C>T - - MEFV_000006 copy from Infevers database Data from Infevers database ID: 963 - - Germline - - - 0 - DNA SEQ - - FMF - Data from Infevers database ID: 963 copied from Infevers - - - - - 0 - - 1 Isabelle Touitou
?/. - c.250G>A VUS r.(?) p.(Glu84Lys) Unknown g.3306338C>T - MEFV(NM_000243.2):c.250G>A (p.E84K) - MEFV_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.265G>A VUS r.(?) p.(Ala89Thr) Unknown g.3306323C>T - MEFV(NM_000243.2):c.265G>A (p.A89T) - MEFV_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277+6C>T likely benign r.(=) p.(=) Unknown g.3306305G>A - MEFV(NM_000243.2):c.277+6C>T - MEFV_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.289C>A VUS r.(?) p.(Gln97Lys) Unknown g.3304779G>T - MEFV(NM_000243.2):c.289C>A (p.Q97K) - MEFV_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.289C>T likely pathogenic r.(?) p.(Gln97*) Unknown g.3304779G>A - MEFV(NM_000243.2):c.289C>T (p.Q97*) - MEFV_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.290A>G VUS r.(?) p.(Gln97Arg) Unknown g.3304778T>C - MEFV(NM_000243.2):c.290A>G (p.Q97R) - MEFV_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.297C>T likely benign r.(?) p.(=) Unknown g.3304771G>A - MEFV(NM_000243.2):c.297C>T (p.N99=) - MEFV_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.306T>C benign r.(?) p.(=) Unknown g.3304762A>G - MEFV(NM_000243.2):c.306T>C (p.D102=) - MEFV_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.306T>C benign r.(?) p.(=) Unknown g.3304762A>G - MEFV(NM_000243.2):c.306T>C (p.D102=) - MEFV_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.309T>C likely benign r.(?) p.(=) Unknown g.3304759A>G - MEFV(NM_000243.2):c.309T>C (p.D103=) - MEFV_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.314C>A VUS r.(?) p.(Ala105Glu) Unknown g.3304754G>T - MEFV(NM_000243.2):c.314C>A (p.A105E) - MEFV_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.322A>C VUS r.(?) p.(Ser108Arg) Unknown g.3304746T>G - MEFV(NM_000243.2):c.322A>C (p.S108R) - MEFV_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.322A>G VUS r.(?) p.(Ser108Gly) Unknown g.3304746T>C - MEFV(NM_000243.2):c.322A>G (p.S108G) - MEFV_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.329T>C - r.(?) p.(Leu110Pro) Parent #2 g.3304739A>G g.3254739A>G - - MEFV_000018 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
?/. - c.329T>C VUS r.(?) p.(Leu110Pro) Unknown g.3304739A>G - MEFV(NM_000243.2):c.329T>C (p.L110P) - MEFV_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.330G>A benign r.(?) p.(=) Unknown g.3304738C>T - MEFV(NM_000243.2):c.330G>A (p.L110=) - MEFV_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.331G>A VUS r.(?) p.(Gly111Arg) Unknown g.3304737C>T - MEFV(NM_000243.2):c.331G>A (p.G111R) - MEFV_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.332G>A VUS r.(?) p.(Gly111Glu) Unknown g.3304736C>T - MEFV(NM_000243.2):c.332G>A (p.G111E) - MEFV_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.333G>A benign r.(?) p.(=) Unknown g.3304735C>T - MEFV(NM_000243.2):c.333G>A (p.G111=) - MEFV_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.334dup likely pathogenic r.(?) p.(Glu112Glyfs*130) Unknown g.3304738dup - MEFV(NM_000243.2):c.334dupG (p.E112Gfs*130) - MEFV_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.343C>A VUS r.(?) p.(Pro115Thr) Unknown g.3304725G>T - MEFV(NM_000243.2):c.343C>A (p.P115T) - MEFV_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.359C>T likely benign r.(?) p.(Thr120Ile) Unknown g.3304709G>A - MEFV(NM_000243.2):c.359C>T (p.T120I) - MEFV_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.369C>A VUS r.(?) p.(His123Gln) Unknown g.3304699G>T - MEFV(NM_000243.2):c.369C>A (p.H123Q) - MEFV_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.372C>T benign r.(?) p.(=) Unknown g.3304696G>A - MEFV(NM_000243.2):c.372C>T (p.P124=) - MEFV_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.375G>A likely benign r.(?) p.(=) Unknown g.3304693C>T - MEFV(NM_000243.2):c.375G>A (p.E125=) - MEFV_000308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.382_383insGAGGGGAAC VUS r.(?) p.(Glu128delinsGlyGlyGluGln) Unknown g.3304685_3304686insGTTCCCCTC - MEFV(NM_000243.2):c.382_383insGAGGGGAAC (p.E128delinsGGEQ) - MEFV_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.383_391del VUS r.(?) p.(Glu128_Asn130del) Unknown g.3304688_3304696del - MEFV(NM_000243.2):c.383_391delAGGGGAACG (p.E128_N130del) - MEFV_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.390C>T likely benign r.(?) p.(=) Unknown g.3304678G>A - MEFV(NM_000243.2):c.390C>T (p.N130=) - MEFV_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.406G>A VUS r.(?) p.(Gly136Arg) Unknown g.3304662C>T - MEFV(NM_000243.2):c.406G>A (p.G136R) - MEFV_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.406G>T VUS r.(?) p.(Gly136Trp) Unknown g.3304662C>A - MEFV(NM_000243.2):c.406G>T (p.G136W) - MEFV_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.408G>A likely benign r.(?) p.(=) Unknown g.3304660C>T - MEFV(NM_000243.2):c.408G>A (p.G136=) - MEFV_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.414A>G benign r.(?) p.(=) Unknown g.3304654T>C - MEFV(NM_000243.2):c.414A>G (p.G138=) - MEFV_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.414A>G benign r.(?) p.(=) Unknown g.3304654T>C - MEFV(NM_000243.2):c.414A>G (p.G138=) - MEFV_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.422G>T VUS r.(?) p.(Ser141Ile) Unknown g.3304646C>A - MEFV(NM_000243.2):c.422G>T (p.S141I) - MEFV_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.428G>C VUS r.(?) p.(Arg143Pro) Unknown g.3304640C>G - MEFV(NM_000243.2):c.428G>C (p.R143P) - MEFV_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Both (homozygous) g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Both (homozygous) g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Both (homozygous) g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Both (homozygous) g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Both (homozygous) g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia North African - 0 - - 1 Wided Kelmemi
?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Both (homozygous) g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia North African - 0 - - 1 Wided Kelmemi
+?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #2 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+?/? 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia North African - 0 - - 1 Wided Kelmemi
+?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia North African - 0 - - 1 Wided Kelmemi
+?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+?/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #2 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Unknown g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #1 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 2 c.442G>C - r.(?) p.(Glu148Gln) Parent #2 g.3304626C>G g.3254626C>G - - MEFV_000011 - - - - Germline - - - - - DNA SEQ - - FMF - - - F yes Morocco - - - - - 1 Fatima Zahra Laarabi
?/. - c.442G>C VUS r.(?) p.(Glu148Gln) Unknown g.3304626C>G - MEFV(NM_000243.2):c.442G>C (p.E148Q) - MEFV_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.443A>T VUS r.(?) p.(Glu148Val) Unknown g.3304625T>A - MEFV(NM_000243.2):c.443A>T (p.E148V) - MEFV_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.450G>A benign r.(?) p.(=) Unknown g.3304618C>T - MEFV(NM_000243.2):c.450G>A (p.G150=) - MEFV_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.453G>C VUS r.(?) p.(Arg151Ser) Unknown g.3304615C>G - MEFV(NM_000243.2):c.453G>C (p.R151S) - MEFV_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.460T>C VUS r.(?) p.(Ser154Pro) Unknown g.3304608A>G - MEFV(NM_000243.2):c.460T>C (p.S154P) - MEFV_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.464G>C VUS r.(?) p.(Arg155Thr) Unknown g.3304604C>G - MEFV(NM_000243.2):c.464G>C (p.R155T) - MEFV_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.476G>A likely benign r.(?) p.(Ser159Asn) Unknown g.3304592C>T - MEFV(NM_000243.2):c.476G>A (p.S159N) - MEFV_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.488A>C VUS r.(?) p.(Glu163Ala) Unknown g.3304580T>G - MEFV(NM_000243.2):c.488A>C (p.E163A) - MEFV_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.489G>T VUS r.(?) p.(Glu163Asp) Unknown g.3304579C>A - MEFV(NM_000243.2):c.489G>T (p.E163D) - MEFV_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.493G>A likely benign r.(?) p.(Ala165Thr) Unknown g.3304575C>T - MEFV(NM_000243.2):c.493G>A (p.A165T) - MEFV_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.495C>A benign r.(?) p.(=) Unknown g.3304573G>T - MEFV(NM_000243.2):c.495C>A (p.A165=) - MEFV_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.495C>A benign r.(?) p.(=) Unknown g.3304573G>T - MEFV(NM_000243.2):c.495C>A (p.A165=) - MEFV_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.497C>T VUS r.(?) p.(Ser166Leu) Unknown g.3304571G>A - MEFV(NM_000243.2):c.497C>T (p.S166L) - MEFV_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.498G>C benign r.(?) p.(=) Unknown g.3304570C>G - MEFV(NM_000243.2):c.498G>C (p.S166=) - MEFV_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.501G>C likely pathogenic r.(?) p.(Glu167Asp) Unknown g.3304567C>G - MEFV(NM_000243.2):c.501G>C (p.E167D) - MEFV_000305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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