Unique variants in the PLA2G6 gene

Information The variants shown are described using the NM_003560.2 transcript reference sequence.

174 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.-20C>A r.(?) p.(=) - likely benign g.38565453G>T - PLA2G6(NM_003560.2):c.-20C>A - PLA2G6_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 2 c.1A>G r.(?) p.0? - pathogenic g.38565433T>C g.38169426T>C - - PLA2G6_000050 Missense of start codon - - - Germline - - - - - Danielle Crompton
-/. 3 - c.87G>A r.(?) p.(Val29=) - benign g.38565347C>T g.38169340C>T PLA2G6(NM_003560.2):c.87G>A (p.V29=) - PLA2G6_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.91G>A r.(?) p.(Asp31Asn) - VUS g.38565343C>T g.38169336C>T - - PLA2G6_000174 - PubMed: Seibler 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/+, +/. 2 2 c.109C>T r.(?) p.(Arg37*), p.(R37*) - pathogenic, pathogenic (recessive) g.38565325G>A g.38169318G>A - - PLA2G6_000014 - - - - Germline yes - - - - Danielle Crompton, Ivano Di Meo
+/+ 1 2 c.116G>T r.(?) p.(R39Q) - pathogenic g.38565318C>A g.38169311C>A - - PLA2G6_000059 - - - - Germline - - - - - Danielle Crompton
?/. 1 - c.152C>G r.(?) p.(Pro51Arg) - VUS g.38565282G>C - PLA2G6(NM_001349864.2):c.152C>G (p.P51R) - PLA2G6_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.157C>T r.(?) p.(Arg53Cys) - VUS g.38565277G>A g.38169270G>A PLA2G6(NM_001349864.1):c.157C>T (p.R53C) - PLA2G6_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.172G>A r.(?) p.(Val58Ile) - benign, likely benign g.38565262C>T g.38169255C>T PLA2G6(NM_001349864.2):c.172G>A (p.V58I), PLA2G6(NM_003560.2):c.172G>A (p.V58I) - PLA2G6_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.187A>G r.(?) p.(Arg63Gly) - likely benign g.38565247T>C g.38169240T>C PLA2G6(NM_003560.2):c.187A>G (p.R63G) - PLA2G6_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2 c.208C>T r.(?) p.(R70*) - pathogenic g.38565226G>A g.38169219G>A - - PLA2G6_000056 - - - - Germline - - - - - Danielle Crompton
-/., -?/. 3 - c.209+16C>T r.(=) p.(=) - benign, likely benign g.38565209G>A g.38169202G>A PLA2G6(NM_003560.2):c.209+16C>T - PLA2G6_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 1 - c.209+5777G>T r.(=) p.(=) - benign g.38559448C>A g.38163441C>A PLA2G6(NM_003560.2):c.209+5777G>T - PLA2G6_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.210-1793A>G r.(=) p.(=) - benign g.38543453T>C g.38147446T>C PLA2G6(NM_003560.2):c.210-1793A>G - PLA2G6_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+, ?/. 2 3 c.238G>A r.(?) p.(A80T), p.(Ala80Thr) - pathogenic, VUS g.38541632C>T g.38145625C>T - - PLA2G6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Danielle Crompton, VKGL-NL_Nijmegen
?/. 1 - c.238G>T r.(?) p.(Ala80Ser) - VUS g.38541632C>A g.38145625C>A PLA2G6(NM_001349864.1):c.238G>T (p.A80S) - PLA2G6_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 3 c.317del r.(?) p.(Val106AlafsTer5) - pathogenic g.38541553del g.38145546del - - PLA2G6_000041 - - - - Germline - - - - - Danielle Crompton
+/+ 1 3 c.319del r.(?) p.(Leu107CysfsTer4) - pathogenic g.38541552del g.38145545del - - PLA2G6_000003 - - - - Germline - - - - - Danielle Crompton
-?/., ?/. 2 - c.325C>G r.(?) p.(His109Asp) - likely benign, VUS g.38541545G>C g.38145538G>C PLA2G6(NM_003560.2):c.325C>G (p.H109D) - PLA2G6_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.370C>T r.(?) p.(His124Tyr) - VUS g.38541500G>A g.38145493G>A PLA2G6(NM_003560.2):c.370C>T (p.H124Y) - PLA2G6_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.395G>A r.(?) p.(Arg132His) - VUS g.38541475C>T g.38145468C>T - - PLA2G6_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 3 c.404T>C r.(?) p.(F135S) - pathogenic g.38541466A>G g.38145459A>G - - PLA2G6_000011 - - - - Germline - - - - - Danielle Crompton
?/. 1 - c.416G>A r.(?) p.(Arg139His) - VUS g.38541454C>T g.38145447C>T PLA2G6(NM_003560.2):c.416G>A (p.R139H) - PLA2G6_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 3i_7i c.(425+1_426-1)_(1077+1_1078-1)dup r.(426_1077dup) p.(Lys360Leufs*22) - pathogenic g.(38525570_38528837)_(38539296_38541444)dup - - - PLA2G6_000064 RNA only - - - Germline - - - - - Danielle Crompton
+/+ 1 4 c.439G>A r.(?) p.(A147T) - pathogenic g.38539282C>T g.38143275C>T - - PLA2G6_000037 - - - - Germline - - - - - Danielle Crompton
+/+ 1 4 c.469C>T r.(?) p.(H157Y) - pathogenic g.38539252G>A g.38143245G>A - - PLA2G6_000028 - - - - Germline - - - - - Danielle Crompton
+/+ 2 4 c.470A>G r.(?) p.(H157R) - pathogenic g.38539251T>C g.38143244T>C - - PLA2G6_000029, PLA2G6_000040 - - - - Germline - - - - - Danielle Crompton
-/. 2 - c.495G>C r.(?) p.(Gly165=) - benign g.38539226C>G g.38143219C>G PLA2G6(NM_003560.2):c.495G>C (p.G165=) - PLA2G6_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.564C>T r.(?) p.(Thr188=) - likely benign g.38539157G>A g.38143150G>A PLA2G6(NM_003560.2):c.564C>T (p.T188=) - PLA2G6_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 4i_6i c.(609+1_610-1)_(894+1_895-1)del r.(del) p.(L204_E298del98) - pathogenic g.(38529021_38530994)_(38536177_38539111)del - - - PLA2G6_000065 - - - - Germline - - - - - Danielle Crompton
+/. 1 - c.643C>T r.(?) p.(Gln215*) - pathogenic g.38536143G>A g.38140136G>A - - PLA2G6_000146 - - - - Unknown - - - - - IMGAG
+/+ 1 5 c.665C>T r.(?) p.(T222I) - pathogenic g.38536121G>A g.38140114G>A - - PLA2G6_000048 - - - - Germline - - - - - Danielle Crompton
-?/. 1 - c.666C>G r.(?) p.(Thr222=) - likely benign g.38536120G>C g.38140113G>C PLA2G6(NM_003560.2):c.666C>G (p.T222=) - PLA2G6_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 5 c.668C>A r.(?) p.(P223Q) - pathogenic g.38536118G>T g.38140111G>T - - PLA2G6_000049 - - - - Germline - - - - - Danielle Crompton
-?/. 1 - c.710G>A r.(?) p.(Arg237His) - likely benign g.38536076C>T g.38140069C>T PLA2G6(NM_003560.2):c.710G>A (p.R237H) - PLA2G6_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 5 c.719C>T r.(?) p.(L240P) - pathogenic g.38536067G>A g.38140060G>A - - PLA2G6_000071 1 more item - - - Germline - - - - - Danielle Crompton
+/+ 1 5 c.751_759del r.(?) p.(Pro251_Gly253del) - pathogenic g.38536030_38536038del g.38140023_38140031del 751_759del9 - PLA2G6_000043 - - - - Germline - - - - - Danielle Crompton
+/+ 1 5 c.755del r.(?) p.(Asn252ThrfsTer9) - pathogenic g.38536032del g.38140025del - - PLA2G6_000032 - - - - Germline - - - - - Danielle Crompton
+/+ 1 6 c.848A>G r.(?) p.(D283G) - pathogenic g.38531041T>C g.38135034T>C - - PLA2G6_000035 - - - - Germline - - - - - Danielle Crompton
-?/. 1 - c.888C>T r.(?) p.(Asn296=) - likely benign g.38531001G>A g.38134994G>A PLA2G6(NM_001349867.1):c.354C>T (p.N118=) - PLA2G6_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 6 c.894+46del r.(=) p.(=) - VUS g.38530952del g.38134945del - - PLA2G6_000078 - - - - Germline - - - - - Danielle Crompton
?/. 2 - c.901C>T r.(?) p.(Arg301Cys) - VUS g.38529014G>A g.38133007G>A PLA2G6(NM_003560.2):c.901C>T (p.R301C) - PLA2G6_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/+ 1 7 c.905T>G r.(?) p.(M302R) - pathogenic g.38529010A>C g.38133003A>C - - PLA2G6_000073 - - - - Germline - - - - - Danielle Crompton
?/. 1 - c.906G>A r.(?) p.(Met302Ile) - VUS g.38529009C>T g.38133002C>T PLA2G6(NM_003560.2):c.906G>A (p.M302I) - PLA2G6_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.916C>T r.(?) p.(Arg306Trp) - VUS g.38528999G>A g.38132992G>A PLA2G6(NM_001349867.1):c.382C>T (p.R128W) - PLA2G6_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.927C>T r.(?) p.(Asn309=) - likely benign g.38528988G>A - PLA2G6(NM_001349867.1):c.393C>T (p.N131=) - PLA2G6_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 7 c.929T>A r.(?) p.(V310E) - pathogenic g.38528986A>T g.38132979A>T - - PLA2G6_000036 - - - - Germline - - - - - Danielle Crompton
?/. 1 - c.956C>T r.(?) p.(Thr319Met) - VUS g.38528959G>A g.38132952G>A PLA2G6(NM_003560.2):c.956C>T (p.T319M) - PLA2G6_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.957G>A r.(?) p.(Thr319=) - benign g.38528958C>T g.38132951C>T PLA2G6(NM_003560.2):c.957G>A (p.T319=) - PLA2G6_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.966C>T r.(?) p.(His322=) - likely benign g.38528949G>A g.38132942G>A PLA2G6(NM_001349867.1):c.432C>T (p.H144=) - PLA2G6_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.972G>A r.(?) p.(Ala324=) - benign, likely benign g.38528943C>T g.38132936C>T PLA2G6(NM_001349867.2):c.438G>A (p.A146=), PLA2G6(NM_003560.2):c.972G>A (p.A324=) - PLA2G6_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.982A>C r.(?) p.(Asn328His) - VUS g.38528933T>G g.38132926T>G PLA2G6(NM_003560.2):c.982A>C (p.N328H) - PLA2G6_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.986G>A r.(?) p.(Arg329His) - VUS g.38528929C>T - PLA2G6(NM_001349867.1):c.452G>A (p.R151H) - PLA2G6_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.990C>T r.(?) p.(Phe330=) - likely benign g.38528925G>A g.38132918G>A PLA2G6(NM_001349867.1):c.456C>T (p.F152=), PLA2G6(NM_003560.2):c.990C>T (p.F330=) - PLA2G6_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.991G>A r.(?) p.(Asp331Asn) - VUS g.38528924C>T g.38132917C>T PLA2G6(NM_001349867.1):c.457G>A (p.D153N) - PLA2G6_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.991G>T r.(?) p.(Asp331Tyr) - pathogenic g.38528924C>A g.38132917C>A - - PLA2G6_000169 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199935023 Germline - 1/2794 individuals - - - Mohammed Faruq
?/. 1 - c.995G>C r.(?) p.(Cys332Ser) - VUS g.38528920C>G g.38132913C>G PLA2G6(NM_001349867.1):c.461G>C (p.C154S) - PLA2G6_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 7 c.1018G>A r.(?) p.(G340R) - pathogenic g.38528897C>T g.38132890C>T - - PLA2G6_000017 - - - - Germline - - - - - Danielle Crompton
+/+ 1 7 c.1021G>A r.(?) p.(A341T) - pathogenic g.38528894C>T g.38132887C>T - - PLA2G6_000030 - - - - Germline - - - - - Danielle Crompton
-/., -?/. 4 - c.1027G>A r.(?) p.(Ala343Thr) - benign, likely benign g.38528888C>T g.38132881C>T PLA2G6(NM_003560.2):c.1027G>A (p.A343T) - PLA2G6_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_AMC
+/+ 1 7 c.1039G>A r.(?) p.(G347R) - pathogenic g.38528876C>T g.38132869C>T - - PLA2G6_000024 - - - - Germline - - - - - Danielle Crompton
+/+ 1 7 c.1058C>T r.(?) p.(P353L) - pathogenic g.38528857G>A g.38132850G>A - - PLA2G6_000045 - - - - Germline - - - - - Danielle Crompton
-?/. 1 - c.1059G>A r.(?) p.(Pro353=) - likely benign g.38528856C>T g.38132849C>T PLA2G6(NM_003560.2):c.1059G>A (p.P353=) - PLA2G6_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 7 c.1061T>C r.(?) p.(L354P) - pathogenic g.38528854A>G g.38132847A>G - - PLA2G6_000008 - - - - Germline - - - - - Danielle Crompton
+/. 1 - c.1077G>A r.1074_1077del p.Met358Ilefs*7 - pathogenic g.38528838C>T g.38132831C>T - - PLA2G6_000099 - - - - Germline yes - - - - Wenjuan Qiu
-?/. 1 - c.1078-15C>G r.(=) p.(=) - likely benign g.38525584G>C g.38129577G>C PLA2G6(NM_003560.2):c.1078-15C>G - PLA2G6_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.1078-1G>A r.spl? p.? - likely pathogenic g.38525570C>T g.38129563C>T PLA2G6(NM_001004426.1):c.1078-1G>A (p.?) - PLA2G6_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.1086C>T r.(?) p.(Asn362=) - benign g.38525561G>A g.38129554G>A PLA2G6(NM_003560.2):c.1086C>T (p.N362=) - PLA2G6_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1087G>A r.(?) p.(Val363Met) - likely benign g.38525560C>T g.38129553C>T PLA2G6(NM_003560.2):c.1087G>A (p.V363M) - PLA2G6_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 8 c.1103C>A r.(?) p.(A368D) - pathogenic g.38525544G>T g.38129537G>T - - PLA2G6_000074 - - - - Germline - - - - - Danielle Crompton
?/. 1 - c.1106T>G r.(?) p.(Leu369Arg) - VUS g.38525541A>C g.38129534A>C PLA2G6(NM_003560.2):c.1106T>G (p.L369R) - PLA2G6_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 8 c.1111G>A r.(?) p.(V371M) - pathogenic g.38525536C>T g.38129529C>T - - PLA2G6_000053 - - - - Germline - - - - - Danielle Crompton
+/+ 1 8 c.1117A>G r.(?) p.(G373R) - pathogenic g.38525530T>C g.38129523T>C - - PLA2G6_000055 1 more item - - - Germline - - - - - Danielle Crompton
+?/. 1 - c.1125del r.(?) p.(Val376Trpfs*14) ACMG likely pathogenic g.38525523del g.38129516del - - PLA2G6_000183 ACMG PVS1, PM2 PubMed: Anazi 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1186+8C>G r.(=) p.(=) - likely benign g.38525453G>C g.38129446G>C PLA2G6(NM_003560.2):c.1186+8C>G - PLA2G6_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 8i c.1187-93_1187-92del r.(?) p.(=) - VUS g.38524529_38524530del g.38128522_38128523del 1187-92_-93delAG - PLA2G6_000079 - - - - Germline - - - - - Danielle Crompton
-?/. 1 - c.1187-8A>G r.(=) p.(=) - likely benign g.38524445T>C g.38128438T>C PLA2G6(NM_003560.2):c.1187-8A>G - PLA2G6_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1241G>T r.(?) p.(Cys414Phe) - likely benign g.38524383C>A g.38128376C>A PLA2G6(NM_003560.2):c.1241G>T (p.C414F) - PLA2G6_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.1266C>T r.(?) p.(Pro422=) - likely benign g.38524358G>A g.38128351G>A PLA2G6(NM_001349867.2):c.732C>T (p.P244=) - PLA2G6_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1287G>A r.(?) p.(Ala429=) - likely benign g.38524337C>T g.38128330C>T PLA2G6(NM_003560.2):c.1287G>A (p.A429=) - PLA2G6_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1328C>T r.(?) p.(Pro443Leu) - likely benign g.38524296G>A g.38128289G>A PLA2G6(NM_003560.2):c.1328C>T (p.P443L) - PLA2G6_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1349-790G>C r.(=) p.(=) - VUS g.38523246C>G g.38127239C>G - - PLA2G6_000092 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1349-755C>T r.(=) p.(=) - VUS g.38523211G>A g.38127204G>A - - PLA2G6_000091 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1349-609A>G r.(=) p.(=) - VUS g.38523065T>C g.38127058T>C - - PLA2G6_000093 - - - - Germline - - - - - Yu Sun
+/. 1 - c.1349-1G>A r.spl? p.? - pathogenic g.38522457C>T - PLA2G6(NM_003560.2):c.1349-1G>A - PLA2G6_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+, +?/. 2 10 c.1351del r.(?) p.(Leu451Tyrfs*20), p.(Leu451TyrfsTer20) - likely pathogenic, pathogenic g.38522454del g.38126447del NM_001004426.1:c.1189delC - PLA2G6_000019 r.(=) effect on splicing predicted from mini-gene splicing assay PubMed: Soens 2017 - - Germline - - - - - Danielle Crompton
-?/. 1 - c.1381C>T r.(?) p.(Arg461Trp) - likely benign g.38522424G>A g.38126417G>A PLA2G6(NM_003560.2):c.1381C>T (p.R461W) - PLA2G6_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 - c.1408A>G r.(?) p.(Met470Val) - VUS g.38522397T>C g.38126390T>C PLA2G6(NM_003560.2):c.1408A>G (p.M470V) - PLA2G6_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
+/+ 1 10 c.1417G>T r.(?) p.(E473*) - pathogenic g.38522388C>A g.38126381C>A - - PLA2G6_000075 - - - - Germline - - - - - Danielle Crompton
?/. 1 - c.1424G>A r.(?) p.(Arg475Gln) - VUS g.38522381C>T g.38126374C>T PLA2G6(NM_003560.2):c.1424G>A (p.R475Q) - PLA2G6_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1426A>G r.(?) p.(Thr476Ala) - VUS g.38522379T>C g.38126372T>C PLA2G6(NM_003560.2):c.1426A>G (p.T476A) - PLA2G6_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 16 c.IVS10+1G>A r.(?) p.? - pathogenic g.38522377C>T g.38126370C>T - - PLA2G6_000060 1 more item - - - Germline - - - - - Danielle Crompton
+/+, +/. 2 11 c.1442T>A r.(?) p.(L481Q), p.(Leu481Gln) - pathogenic g.38519251A>T g.38123244A>T PLA2G6(NM_001349867.1):c.908T>A (p.L303Q) - PLA2G6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Danielle Crompton
+/+ 1 11 c.1463T>G r.(?) p.(V488G) - pathogenic g.38519230A>C g.38123223A>C - - PLA2G6_000044 - - - - Germline - - - - - Danielle Crompton
+/+ 1 11 c.1472T>G r.(?) p.(L491R) - pathogenic g.38519221A>C g.38123214A>C - - PLA2G6_000012 - - - - Germline - - - - - Danielle Crompton
+?/. 1 - c.1499T>C r.(?) p.(Ile500Thr) - likely pathogenic g.38519194A>G g.38123187A>G PLA2G6(NM_003560.2):c.1499T>C (p.I500T) - PLA2G6_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 11 c.1501G>C r.(?) p.(E501Q) - pathogenic g.38519192C>G g.38123185C>G - - PLA2G6_000015 - - - - Germline - - - - - Danielle Crompton
+/+ 1 11 c.1506G>C r.(?) p.(K502N) - pathogenic g.38519187C>G g.38123180C>G - - PLA2G6_000022 - - - - Germline - - - - - Danielle Crompton
+/+ 1 11 c.1524dup r.(?) p.(Lys509GlnfsTer5) - pathogenic g.38519170dup g.38123163dup - - PLA2G6_000076 - - - - Germline - - - - - Danielle Crompton
+/+ 1 11 c.1538_1541del r.(?) p.(Asp513GlyfsTer31) - pathogenic g.38519154_38519157del g.38123147_38123150del - - PLA2G6_000018 - - - - Germline - - - - - Danielle Crompton
Legend   How to query   « First ‹ Prev     1 2     Next › Last »