All variants in the PCSK9 gene

Information The variants shown are described using the NM_174936.3 transcript reference sequence.

293 entries on 3 pages. Showing entries 1 - 100.
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Effect     

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     
-/. - c.-861G>A r.(?) p.(=) - benign g.55504650G>A g.55038977G>A PCSK9(NM_174936.3):c.-861G>A - PCSK9_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-331C>A r.(?) p.(=) - VUS g.55505180C>A - PCSK9(NM_174936.3):c.-331C>A - PCSK9_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-287G>A r.(?) p.(=) - likely benign g.55505224G>A g.55039551G>A PCSK9(NM_174936.3):c.-287G>A - PCSK9_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-245G>C r.(?) p.(=) - likely benign g.55505266G>C g.55039593G>C PCSK9(NM_174936.3):c.-245G>C - PCSK9_000339 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-64C>T r.(?) p.(=) - benign g.55505447C>T g.55039774C>T PCSK9(NM_174936.3):c.-64C>T - PCSK9_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-11C>T r.(?) p.(=) - VUS g.55505500C>T g.55039827C>T PCSK9(NM_174936.3):c.-11C>T - PCSK9_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.10G>A r.(?) p.(Val4Ile) - pathogenic g.55505520G>A g.55039847G>A PCSK9(NM_174936.3):c.10G>A (p.V4I) - PCSK9_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.27C>T r.(?) p.(Ser9=) - benign g.55505537C>T g.55039864C>T PCSK9(NM_174936.3):c.27C>T (p.S9=) - PCSK9_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.35C>T r.(?) p.(Pro12Leu) - VUS g.55505545C>T - PCSK9(NM_174936.3):c.35C>T (p.P12L) - PCSK9_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.41_49del r.(?) p.(Pro14_Leu16del) - likely benign g.55505551_55505559del g.55039878_55039886del PCSK9(NM_174936.3):c.41_49delCACTGCTGC (p.P14_L16del) - PCSK9_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.45G>A r.(?) p.(Leu15=) - likely benign g.55505555G>A g.55039882G>A PCSK9(NM_174936.3):c.45G>A (p.L15=) - PCSK9_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.57_65del r.(?) p.(Leu21_Leu23del) - likely benign g.55505567_55505575del g.55039894_55039902del PCSK9(NM_174936.3):c.57_65delGCTGCTGCT (p.L21_L23del) - PCSK9_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.60_65dup r.(?) p.(Leu22_Leu23dup) - benign g.55505570_55505575dup g.55039897_55039902dup PCSK9(NM_174936.3):c.60_65dupGCTGCT (p.L22_L23dup) - PCSK9_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.63_65del r.(?) p.(Leu23del) - benign g.55505573_55505575del g.55039900_55039902del PCSK9(NM_174936.3):c.63_65delGCT (p.L23del) - PCSK9_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.63_65dup r.(?) p.(Leu23dup) - benign g.55505573_55505575dup g.55039900_55039902dup PCSK9(NM_174936.3):c.63_65dupGCT (p.L23dup) - PCSK9_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.63_65dup r.(?) p.(Leu23dup) - benign g.55505573_55505575dup g.55039900_55039902dup PCSK9(NM_174936.3):c.63_65dupGCT (p.L23dup) - PCSK9_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.63_65dup r.(?) p.(Leu23dup) - benign g.55505573_55505575dup g.55039900_55039902dup PCSK9(NM_174936.3):c.63_65dupGCT (p.L23dup) - PCSK9_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.66C>T r.(?) p.(Leu22=) - benign g.55505576C>T g.55039903C>T PCSK9(NM_174936.3):c.66C>T (p.L22=) - PCSK9_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.94G>A r.(?) p.(Glu32Lys) - pathogenic g.55505604G>A g.55039931G>A PCSK9(NM_174936.3):c.94G>A (p.E32K) - PCSK9_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.101_106dup r.(?) p.(Glu34_Asp35dup) - VUS g.55505611_55505616dup g.55039938_55039943dup PCSK9(NM_174936.3):c.101_106dupAGGACG (p.E34_D35dup) - PCSK9_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.136C>T r.(?) p.(Arg46Cys) - VUS g.55505646C>T g.55039973C>T PCSK9(NM_174936.3):c.136C>T (p.R46C) - PCSK9_000342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.137G>T r.(?) p.(Arg46Leu) - likely benign g.55505647G>T g.55039974G>T PCSK9(NM_174936.3):c.137G>T (p.R46L) - PCSK9_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.137G>T r.(?) p.(Arg46Leu) - likely benign g.55505647G>T g.55039974G>T - - PCSK9_000111 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11591147 Germline - 10/2795 individuals - 0 - Mohammed Faruq
-?/. - c.140C>G r.(?) p.(Ser47Cys) - likely benign g.55505650C>G g.55039977C>G PCSK9(NM_174936.3):c.140C>G (p.S47C) - PCSK9_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.141C>T r.(?) p.(Ser47=) - benign g.55505651C>T g.55039978C>T PCSK9(NM_174936.3):c.141C>T (p.S47=) - PCSK9_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.141C>T r.(?) p.(Ser47=) - benign g.55505651C>T g.55039978C>T PCSK9(NM_174936.3):c.141C>T (p.S47=) - PCSK9_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.142G>A r.(?) p.(Glu48Lys) - pathogenic g.55505652G>A g.55039979G>A PCSK9(NM_174936.3):c.142G>A (p.E48K) - PCSK9_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.142G>A r.(?) p.(Glu48Lys) - VUS g.55505652G>A g.55039979G>A PCSK9(NM_174936.3):c.142G>A (p.E48K) - PCSK9_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.145G>A r.(?) p.(Glu49Lys) - likely pathogenic g.55505655G>A g.55039982G>A PCSK9(NM_174936.3):c.145G>A (p.E49K) - PCSK9_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.147G>C r.(?) p.(Glu49Asp) - VUS g.55505657G>C - PCSK9(NM_174936.3):c.147G>C (p.E49D) - PCSK9_000390 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.158C>G r.(?) p.(Ala53Gly) - likely benign g.55505668C>G g.55039995C>G PCSK9(NM_174936.3):c.158C>G (p.A53G) - PCSK9_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.158C>T r.(?) p.(Ala53Val) - benign g.55505668C>T g.55039995C>T PCSK9(NM_174936.3):c.158C>T (p.A53V) - PCSK9_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.158C>T r.(?) p.(Ala53Val) - benign g.55505668C>T g.55039995C>T PCSK9(NM_174936.3):c.158C>T (p.A53V) - PCSK9_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.158C>T r.(?) p.(Ala53Val) - benign g.55505668C>T g.55039995C>T PCSK9(NM_174936.3):c.158C>T (p.A53V) - PCSK9_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.160G>A r.(?) p.(Glu54Lys) - VUS g.55505670G>A g.55039997G>A PCSK9(NM_174936.3):c.160G>A (p.E54K) - PCSK9_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.169G>A r.(?) p.(Glu57Lys) - pathogenic g.55505679G>A g.55040006G>A PCSK9(NM_174936.3):c.169G>A (p.E57K) - PCSK9_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.207+5G>A r.spl? p.? - pathogenic g.55505722G>A g.55040049G>A PCSK9(NM_174936.3):c.207+5G>A - PCSK9_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.207+15A>G r.(=) p.(=) - benign g.55505732A>G g.55040059A>G PCSK9(NM_174936.3):c.207+15A>G - PCSK9_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.207+15A>G r.(=) p.(=) - benign g.55505732A>G g.55040059A>G PCSK9(NM_174936.3):c.207+15A>G - PCSK9_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.207+87T>A r.(=) p.(=) - likely benign g.55505804T>A g.55040131T>A PCSK9(NM_174936.3):c.207+87T>A - PCSK9_000343 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.207+144G>A r.(=) p.(=) - benign g.55505861G>A g.55040188G>A PCSK9(NM_174936.3):c.207+144G>A - PCSK9_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.207+209C>T r.(=) p.(=) - benign g.55505926C>T g.55040253C>T PCSK9(NR_110451.1):n.32C>T - PCSK9_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.207+386C>G r.(=) p.(=) - likely benign g.55506103C>G g.55040430C>G PCSK9(NM_174936.3):c.207+386C>G - PCSK9_000344 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.208-399C>T r.(=) p.(=) - benign g.55509117C>T g.55043444C>T PCSK9(NM_174936.3):c.208-399C>T - PCSK9_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.208-303G>C r.(=) p.(=) - likely benign g.55509213G>C g.55043540G>C PCSK9(NM_174936.3):c.208-303G>C - PCSK9_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.208-161C>T r.(=) p.(=) - benign g.55509355C>T g.55043682C>T PCSK9(NM_174936.3):c.208-161C>T - PCSK9_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.212C>T r.(?) p.(Pro71Leu) - likely pathogenic g.55509520C>T g.55043847C>T PCSK9(NM_174936.3):c.212C>T (p.P71L) - PCSK9_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.225T>C r.(?) p.(Pro75=) - benign g.55509533T>C g.55043860T>C PCSK9(NM_174936.3):c.225T>C (p.P75=) - PCSK9_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.234C>T r.(?) p.(Tyr78=) - likely benign g.55509542C>T g.55043869C>T PCSK9(NM_174936.3):c.234C>T (p.Y78=) - PCSK9_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.266C>T r.(?) p.(Ser89Leu) - VUS g.55509574C>T - PCSK9(NM_174936.3):c.266C>T (p.S89L) - PCSK9_000388 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.276G>A r.(?) p.(Glu92=) - benign g.55509584G>A g.55043911G>A PCSK9(NM_174936.3):c.276G>A (p.E92=) - PCSK9_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.276G>A r.(?) p.(Glu92=) - likely benign g.55509584G>A g.55043911G>A PCSK9(NM_174936.3):c.276G>A (p.E92=) - PCSK9_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.277C>T r.(?) p.(Arg93Cys) - pathogenic g.55509585C>T g.55043912C>T PCSK9(NM_174936.3):c.277C>T (p.R93C) - PCSK9_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.286C>T r.(?) p.(Arg96Cys) - VUS g.55509594C>T g.55043921C>T PCSK9(NM_174936.3):c.286C>T (p.R96C) - PCSK9_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.286C>T r.(?) p.(Arg96Cys) - VUS g.55509594C>T g.55043921C>T PCSK9(NM_174936.3):c.286C>T (p.R96C) - PCSK9_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.286C>T r.(?) p.(Arg96Cys) - VUS g.55509594C>T - PCSK9(NM_174936.3):c.286C>T (p.R96C) - PCSK9_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.288C>A r.(?) p.(Arg96=) - benign g.55509596C>A g.55043923C>A PCSK9(NM_174936.3):c.288C>A (p.R96=) - PCSK9_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.311G>A r.(?) p.(Arg104His) - VUS g.55509619G>A g.55043946G>A PCSK9(NM_174936.3):c.311G>A (p.R104H) - PCSK9_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.314G>A r.(?) p.(Arg105Gln) - VUS g.55509622G>A g.55043949G>A PCSK9(NM_174936.3):c.314G>A (p.R105Q) - PCSK9_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.336G>A r.(?) p.(Leu112=) - benign g.55509644G>A g.55043971G>A PCSK9(NM_174936.3):c.336G>A (p.L112=) - PCSK9_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.341T>C r.(?) p.(Val114Ala) - pathogenic g.55509649T>C g.55043976T>C PCSK9(NM_174936.3):c.341T>C (p.V114A) - PCSK9_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.360T>C r.(?) p.(Pro120=) - benign g.55509668T>C g.55043995T>C PCSK9(NM_174936.3):c.360T>C (p.P120=) - PCSK9_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.384C>T r.(?) p.(Gly128=) - benign g.55509692C>T g.55044019C>T PCSK9(NM_174936.3):c.384C>T (p.G128=) - PCSK9_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.385G>A r.(?) p.(Asp129Asn) - pathogenic g.55509693G>A g.55044020G>A PCSK9(NM_174936.3):c.385G>A (p.D129N) - PCSK9_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.394G>A r.(?) p.(Glu132Lys) - VUS g.55509702G>A g.55044029G>A PCSK9(NM_174936.3):c.394G>A (p.E132K) - PCSK9_000372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.397C>T r.(?) p.(Leu133=) - likely benign g.55509705C>T g.55044032C>T PCSK9(NM_174936.3):c.397C>T (p.L133=) - PCSK9_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.399+4A>G r.spl? p.? - likely benign g.55509711A>G g.55044038A>G PCSK9(NM_174936.3):c.399+4A>G - PCSK9_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.399+10C>T r.(=) p.(=) - likely benign g.55509717C>T g.55044044C>T PCSK9(NM_174936.3):c.399+10C>T - PCSK9_000345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.399+165T>C r.(=) p.(=) - benign g.55509872T>C g.55044199T>C PCSK9(NM_174936.3):c.399+165T>C - PCSK9_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.399+193C>T r.(=) p.(=) - benign g.55509900C>T g.55044227C>T PCSK9(NM_174936.3):c.399+193C>T - PCSK9_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.399+232T>C r.(=) p.(=) - benign g.55509939T>C g.55044266T>C PCSK9(NM_174936.3):c.399+232T>C - PCSK9_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.399+308C>T r.(=) p.(=) - likely benign g.55510015C>T g.55044342C>T PCSK9(NM_174936.3):c.399+308C>T - PCSK9_000346 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.400-568dup r.(=) p.(=) - likely benign g.55511628dup g.55045955dup PCSK9(NM_174936.3):c.400-568dupC - PCSK9_000373 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.400-201A>G r.(=) p.(=) - benign g.55511995A>G g.55046322A>G PCSK9(NM_174936.3):c.400-201A>G - PCSK9_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.400-178A>T r.(=) p.(=) - benign g.55512018A>T g.55046345A>T PCSK9(NM_174936.3):c.400-178A>T - PCSK9_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.400-18C>A r.(=) p.(=) - likely benign g.55512178C>A g.55046505C>A PCSK9(NM_174936.3):c.400-18C>A - PCSK9_000347 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.420C>T r.(?) p.(Val140=) - likely benign g.55512216C>T g.55046543C>T PCSK9(NM_174936.3):c.420C>T (p.V140=) - PCSK9_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.429C>T r.(?) p.(Ile143=) - benign g.55512225C>T g.55046552C>T PCSK9(NM_174936.3):c.429C>T (p.I143=) - PCSK9_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. 3 c.449_450del r.(?) p.(Phe150Cysfs*20) - VUS g.55512245_55512246del g.55046572_55046573del - - PCSK9_000106 - PubMed: Braenne 2016, Journal: Braenne 2016 - - Germline no - - 0 - Benedikt Reiz
+?/. - c.479G>A r.(?) p.(Arg160Gln) - likely pathogenic g.55512275G>A g.55046602G>A PCSK9(NM_174936.3):c.479G>A (p.R160Q) - PCSK9_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.493C>T r.(?) p.(Arg165Trp) - likely pathogenic g.55512289C>T g.55046616C>T PCSK9(NM_174936.3):c.493C>T (p.R165W) - PCSK9_000374 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.494G>A r.(?) p.(Arg165Gln) - likely benign g.55512290G>A g.55046617G>A PCSK9(NM_174936.3):c.494G>A (p.R165Q) - PCSK9_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.500G>A r.(?) p.(Arg167Gln) - VUS g.55512296G>A g.55046623G>A PCSK9(NM_174936.3):c.500G>A (p.R167Q) - PCSK9_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.507T>C r.(?) p.(Asp169=) - likely benign g.55512303T>C g.55046630T>C PCSK9(NM_174936.3):c.507T>C (p.D169=) - PCSK9_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.522C>T r.(?) p.(Pro174=) - benign g.55512318C>T g.55046645C>T PCSK9(NM_174936.3):c.522C>T (p.P174=) - PCSK9_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. 5 c.523G>A r.(?) p.(Asp175Asn) - VUS g.55512319G>A g.55046646G>A - - PCSK9_000107 - - - - Unknown - - - 0 - Antoine Rimbert
-/. - c.523+230T>C r.(=) p.(=) - benign g.55512549T>C g.55046876T>C PCSK9(NM_174936.3):c.523+230T>C - PCSK9_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.523+1839G>T r.(=) p.(=) - benign g.55514158G>T - PCSK9(NM_174936.3):c.523+1839G>T - PCSK9_000391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.524-90C>G r.(=) p.(=) - benign g.55517861C>G g.55052188C>G PCSK9(NM_174936.3):c.524-90C>G - PCSK9_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.524-68C>G r.(=) p.(=) - likely benign g.55517883C>G g.55052210C>G PCSK9(NM_174936.3):c.524-68C>G - PCSK9_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.524-12C>T r.(=) p.(=) - likely benign g.55517939C>T - PCSK9(NM_174936.3):c.524-12C>T - PCSK9_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.524-11G>A r.(=) p.(=) - benign g.55517940G>A g.55052267G>A PCSK9(NM_174936.3):c.524-11G>A - PCSK9_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.524-11G>A r.(=) p.(=) - benign g.55517940G>A g.55052267G>A PCSK9(NM_174936.3):c.524-11G>A - PCSK9_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.525C>T r.(?) p.(Asp175=) - likely benign g.55517952C>T g.55052279C>T PCSK9(NM_174936.3):c.525C>T (p.D175=) - PCSK9_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.525C>T r.(?) p.(Asp175=) - likely benign g.55517952C>T g.55052279C>T PCSK9(NM_174936.3):c.525C>T (p.D175=) - PCSK9_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.530G>A r.(?) p.(Gly177Asp) - VUS g.55517957G>A g.55052284G>A PCSK9(NM_174936.3):c.530G>A (p.G177D) - PCSK9_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.589G>A r.(?) p.(Glu197Lys) - likely pathogenic g.55518016G>A - PCSK9(NM_174936.3):c.589G>A (p.E197K) - PCSK9_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.609C>T r.(?) p.(Thr203=) - likely benign g.55518036C>T g.55052363C>T PCSK9(NM_174936.3):c.609C>T (p.T203=) - PCSK9_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. 4 c.610G>A r.(?) p.(Asp204Asn) - VUS g.55518037G>A g.55052364G>A - - PCSK9_000105 - PubMed: Braenne 2016, Journal: Braenne 2016 - - Germline yes - - 0 - Benedikt Reiz
+?/. - c.610G>A r.(?) p.(Asp204Asn) - likely pathogenic g.55518037G>A g.55052364G>A - - PCSK9_000105 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs793888521 Germline - 1/2794 individuals - 0 - Mohammed Faruq
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