All variants in the PCNT gene

Information The variants shown are described using the NM_006031.5 transcript reference sequence.

403 entries on 5 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.-1560A>T r.(?) p.(=) - likely benign g.47742583A>T g.46322669A>T C21orf58(NM_058180.3):c.70T>A (p.(Ser24Thr)) - C21orf58_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-1515T>C r.(?) p.(=) - VUS g.47742628T>C g.46322714T>C C21orf58(NM_058180.3):c.25A>G (p.(Thr9Ala)) - C21orf58_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.-16G>T r.(?) p.(=) - benign g.47744127G>T g.46324213G>T PCNT(NM_006031.5):c.-16G>T - PCNT_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.54+6C>T r.(=) p.(=) - benign g.47744202C>T g.46324288C>T PCNT(NM_006031.5):c.54+6C>T (, p.(=)) - PCNT_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.54+6C>T r.(=) p.(=) - likely benign g.47744202C>T g.46324288C>T PCNT(NM_006031.5):c.54+6C>T (, p.(=)) - PCNT_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.54+11G>A r.(=) p.(=) - likely benign g.47744207G>A g.46324293G>A PCNT(NM_006031.5):c.54+11G>A - PCNT_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.89A>G r.(?) p.(Asp30Gly) - VUS g.47746325A>G g.46326411A>G PCNT(NM_006031.5):c.89A>G (p.(Asp30Gly)) - C21orf58_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 2 c.196G>T r.(?) p.(Gly66*) - pathogenic g.47746432G>T g.46326518G>T - - PCNT_000017 - PubMed: Shaheen 2014, Journal: Shaheen 2014 - - Germline yes - - 0 - Fowzan Alkuraya
?/. - c.237del r.(?) p.(Asp80MetfsTer173) - VUS g.47746473del g.46326559del PCNT(NM_006031.5):c.237del (p.(Asp80MetfsTer173)) - C21orf58_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.247G>C r.(?) p.(Gly83Arg) - likely benign g.47746483G>C g.46326569G>C PCNT(NM_006031.5):c.247G>C (p.G83R) - PCNT_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.389A>G r.(?) p.(His130Arg) - likely benign g.47754432A>G g.46334518A>G PCNT(NM_006031.5):c.389A>G (p.(His130Arg)) - PCNT_000394 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.406G>A r.(?) p.(Gly136Ser) - likely benign g.47754449G>A g.46334535G>A PCNT(NM_006031.5):c.406G>A (p.G136S), PCNT(NM_006031.6):c.406G>A (p.G136S) - PCNT_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.406G>A r.(?) p.(Gly136Ser) - likely benign g.47754449G>A g.46334535G>A PCNT(NM_006031.5):c.406G>A (p.G136S), PCNT(NM_006031.6):c.406G>A (p.G136S) - PCNT_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.418C>T r.(?) p.(Pro140Ser) - likely benign g.47754461C>T g.46334547C>T PCNT(NM_006031.5):c.418C>T (p.(Pro140Ser)) - PCNT_000395 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.428_466del r.(?) p.(Arg143_Gln155del) - VUS g.47754471_47754509del g.46334557_46334595del PCNT(NM_006031.5):c.407_445del (p.(His138_Asp150del)) - PCNT_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.444_445insGGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTC r.(?) p.(Val148_Ser149insGlyAspHisProProGluGlnHisGlyMetPheThrVal) - likely benign g.47754487_47754488insGGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTC g.46334573_46334574insGGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTC PCNT(NM_006031.6):c.444_445ins39 (p.V148_S149ins13) - PCNT_000488 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.445A>G r.(?) p.(Ser149Gly) - VUS g.47754488A>G g.46334574A>G PCNT(NM_006031.5):c.445A>G (p.(Ser149Gly)) - PCNT_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.467A>G r.(?) p.(His156Arg) - benign g.47754510A>G g.46334596A>G PCNT(NM_006031.5):c.467A>G (p.H156R) - PCNT_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.467_505del r.(?) p.(His156_Gln168del) - likely benign g.47754510_47754548del g.46334596_46334634del PCNT(NM_006031.5):c.429_467del (p.?), PCNT(NM_006031.5):c.467_505del (p.H156_Q168del), PCNT(NM_006031.6):c.467_505del (p.H156_Q168del) - PCNT_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.467_505del r.(?) p.(His156_Gln168del) - likely benign g.47754510_47754548del g.46334596_46334634del PCNT(NM_006031.5):c.429_467del (p.?), PCNT(NM_006031.5):c.467_505del (p.H156_Q168del), PCNT(NM_006031.6):c.467_505del (p.H156_Q168del) - PCNT_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.467_505del r.(?) p.(His156_Gln168del) - likely benign g.47754510_47754548del g.46334596_46334634del PCNT(NM_006031.5):c.429_467del (p.?), PCNT(NM_006031.5):c.467_505del (p.H156_Q168del), PCNT(NM_006031.6):c.467_505del (p.H156_Q168del) - PCNT_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.467_505dup r.(?) p.(His156_Gln168dup) - likely benign g.47754510_47754548dup g.46334596_46334634dup PCNT(NM_006031.5):c.428_429insTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA (p.?), PCNT(NM_006031.5):c.467_505dup (p.H156_Q168dup), PCNT(NM_006031.6):c.4... - PCNT_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.467_505dup r.(?) p.(His156_Gln168dup) - likely benign g.47754510_47754548dup g.46334596_46334634dup PCNT(NM_006031.5):c.428_429insTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA (p.?), PCNT(NM_006031.5):c.467_505dup (p.H156_Q168dup), PCNT(NM_006031.6):c.4... - PCNT_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.467_505dup r.(?) p.(His156_Gln168dup) - likely benign g.47754510_47754548dup g.46334596_46334634dup PCNT(NM_006031.5):c.428_429insTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA (p.?), PCNT(NM_006031.5):c.467_505dup (p.H156_Q168dup), PCNT(NM_006031.6):c.4... - PCNT_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.471G>A r.(?) p.(Gly157=) - likely benign g.47754514G>A g.46334600G>A PCNT(NM_006031.5):c.471G>A (p.G157=) - PCNT_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.481G>A r.(?) p.(Val161Ile) - VUS g.47754524G>A g.46334610G>A PCNT(NM_006031.5):c.481G>A (p.(Val161Ile)) - PCNT_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.494_532del r.(?) p.(Pro165_His177del) - VUS g.47754537_47754575del g.46334623_46334661del PCNT(NM_006031.6):c.494_532del (p.P165_H177del) - PCNT_000489 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.498A>G r.(?) p.(Pro166=) - benign g.47754541A>G g.46334627A>G PCNT(NM_006031.5):c.498A>G (p.P166=) - PCNT_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.506G>A r.(?) p.(Arg169His) - benign g.47754549G>A g.46334635G>A PCNT(NM_006031.5):c.506G>A (p.R169H) - PCNT_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.517A>G r.(?) p.(Thr173Ala) - VUS g.47754560A>G g.46334646A>G PCNT(NM_006031.5):c.517A>G (p.(Thr173Ala)) - PCNT_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.520A>G r.(?) p.(Ile174Val) - benign g.47754563A>G g.46334649A>G PCNT(NM_006031.5):c.520A>G (p.I174V, p.(Ile174Val)) - PCNT_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.520A>G r.(?) p.(Ile174Val) - likely benign g.47754563A>G g.46334649A>G PCNT(NM_006031.5):c.520A>G (p.I174V, p.(Ile174Val)) - PCNT_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.533A>C r.(?) p.(Gln178Pro) - VUS g.47754576A>C g.46334662A>C PCNT(NM_006031.5):c.533A>C (p.(Gln178Pro)), PCNT(NM_006031.6):c.533A>C (p.Q178P) - PCNT_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.533A>C r.(?) p.(Gln178Pro) - likely benign g.47754576A>C g.46334662A>C PCNT(NM_006031.5):c.533A>C (p.(Gln178Pro)), PCNT(NM_006031.6):c.533A>C (p.Q178P) - PCNT_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.591C>G r.(?) p.(Ile197Met) - likely benign g.47754634C>G g.46334720C>G PCNT(NM_006031.6):c.591C>G (p.I197M) - PCNT_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.623G>A r.(?) p.(Arg208His) - likely benign g.47754666G>A g.46334752G>A PCNT(NM_006031.5):c.623G>A (p.(Arg208His)), PCNT(NM_006031.6):c.623G>A (p.R208H) - PCNT_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.623G>A r.(?) p.(Arg208His) - likely benign g.47754666G>A g.46334752G>A PCNT(NM_006031.5):c.623G>A (p.(Arg208His)), PCNT(NM_006031.6):c.623G>A (p.R208H) - PCNT_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.644G>A r.(?) p.(Cys215Tyr) - likely benign g.47766046G>A g.46346132G>A PCNT(NM_006031.5):c.644G>A (p.C215Y) - PCNT_000397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.658G>T r.(?) p.(Glu220*) ACMG pathogenic g.47766060G>T g.46346146G>T - - PCNT_000174 - PubMed: Trujillano 2017 - - Germline - - - 0 - Daniel Trujillano
+/? 4 c.658G>T r.(?) p.(Glu220*) - pathogenic g.47766060G>T g.46346146G>T - - PCNT_000014 - PubMed: Elen Griffith 2008 - - Unknown - - - 0 - Emmelien Aten
+/? 4 c.658G>T r.(?) p.(Glu220*) - pathogenic g.47766060G>T g.46346146G>T - - PCNT_000014 - PubMed: Elen Griffith 2008 - - Unknown - - - 0 - Emmelien Aten
-/. - c.711T>G r.(?) p.(His237Gln) - benign g.47766113T>G g.46346199T>G PCNT(NM_006031.5):c.711T>G (p.H237Q, p.(His237Gln)) - PCNT_000398 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.711T>G r.(?) p.(His237Gln) - likely benign g.47766113T>G g.46346199T>G PCNT(NM_006031.5):c.711T>G (p.H237Q, p.(His237Gln)) - PCNT_000398 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.720+8G>A r.(=) p.(=) - likely benign g.47766130G>A - PCNT(NM_006031.5):c.720+8G>A - PCNT_000505 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.720+17T>C r.(=) p.(=) - benign g.47766139T>C g.46346225T>C PCNT(NM_006031.5):c.720+17T>C, PCNT(NM_006031.6):c.720+17T>C - PCNT_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.720+17T>C r.(=) p.(=) - benign g.47766139T>C g.46346225T>C PCNT(NM_006031.5):c.720+17T>C, PCNT(NM_006031.6):c.720+17T>C - PCNT_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.721-7G>A r.(=) p.(=) - benign g.47766650G>A g.46346736G>A PCNT(NM_006031.5):c.721-7G>A, PCNT(NM_006031.6):c.721-7G>A - PCNT_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.721-7G>A r.(=) p.(=) - benign g.47766650G>A g.46346736G>A PCNT(NM_006031.5):c.721-7G>A, PCNT(NM_006031.6):c.721-7G>A - PCNT_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.724G>A r.(?) p.(Val242Met) - VUS g.47766660G>A g.46346746G>A PCNT(NM_006031.5):c.724G>A (p.V242M) - PCNT_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.824C>T r.(?) p.(Thr275Met) - VUS g.47766760C>T g.46346846C>T PCNT(NM_006031.5):c.824C>T (p.(Thr275Met)) - PCNT_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.904G>A r.(?) p.(Glu302Lys) - likely benign g.47766840G>A g.46346926G>A PCNT(NM_006031.5):c.904G>A (p.E302K, p.(Glu302Lys)) - PCNT_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.904G>A r.(?) p.(Glu302Lys) - likely benign g.47766840G>A g.46346926G>A PCNT(NM_006031.5):c.904G>A (p.E302K, p.(Glu302Lys)) - PCNT_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.904G>A r.(?) p.(Glu302Lys) - VUS g.47766840G>A g.46346926G>A - - PCNT_000204 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs186701249 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.935G>A r.(?) p.(Arg312Gln) - VUS g.47766871G>A g.46346957G>A PCNT(NM_006031.5):c.935G>A (p.R312Q) - PCNT_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.959G>A r.(?) p.(Arg320Lys) - likely benign g.47766895G>A g.46346981G>A PCNT(NM_006031.5):c.959G>A (p.R320K) - PCNT_000399 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1178_1180del r.(?) p.(Lys393del) - VUS g.47769071_47769073del g.46349157_46349159del PCNT(NM_006031.5):c.1175_1177del (p.(Lys393del)) - PCNT_000403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1246A>G r.(?) p.(Ile416Val) - likely benign g.47769636A>G g.46349722A>G PCNT(NM_006031.5):c.1246A>G (p.(Ile416Val)) - PCNT_000474 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1489C>A r.(?) p.(Arg497Ser) - likely benign g.47773050C>A - PCNT(NM_006031.5):c.1489C>A (p.(Arg497Ser)) - PCNT_000492 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1519C>G r.(?) p.(Arg507Gly) - likely benign g.47773080C>G g.46353166C>G PCNT(NM_006031.5):c.1519C>G (p.R507G), PCNT(NM_006031.6):c.1519C>G (p.R507G) - PCNT_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1519C>G r.(?) p.(Arg507Gly) - likely benign g.47773080C>G - PCNT(NM_006031.5):c.1519C>G (p.R507G), PCNT(NM_006031.6):c.1519C>G (p.R507G) - PCNT_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1542C>A r.(?) p.(Ser514=) - benign g.47773103C>A g.46353189C>A PCNT(NM_006031.5):c.1542C>A (p.S514=), PCNT(NM_006031.6):c.1542C>A (p.S514=) - PCNT_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1542C>A r.(?) p.(Ser514=) - benign g.47773103C>A g.46353189C>A PCNT(NM_006031.5):c.1542C>A (p.S514=), PCNT(NM_006031.6):c.1542C>A (p.S514=) - PCNT_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1590T>C r.(?) p.(Ala530=) - likely benign g.47773151T>C g.46353237T>C PCNT(NM_006031.5):c.1590T>C (p.A530=) - PCNT_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1616C>T r.(?) p.(Thr539Ile) - benign g.47773177C>T g.46353263C>T PCNT(NM_006031.5):c.1616C>T (p.T539I) - PCNT_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/? 11 c.1753C>T r.(?) p.(Arg585*) - pathogenic g.47773974C>T g.46354060C>T - - PCNT_000001 - PubMed: Willems 2009 - - Unknown - - Tsp45I+;Bpu10I- 0 - Emmelien Aten
-?/. - c.1784C>T r.(?) p.(Ala595Val) - likely benign g.47775389C>T g.46355474C>T PCNT(NM_006031.5):c.1784C>T (p.A595V) - PCNT_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1825G>A r.(?) p.(Glu609Lys) - likely benign g.47775430G>A g.46355515G>A PCNT(NM_006031.5):c.1825G>A (p.E609K) - PCNT_000475 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1879G>C r.(?) p.(Glu627Gln) ACMG likely pathogenic (recessive) g.47775484G>C g.46355569G>C - - PCNT_000498 ACMG PS4,PM2 PubMed: Anazi 2017 - - Germline - - - 0 - Johan den Dunnen
+/? 12 c.1887del r.(?) p.(Ala630Hisfs*66) - pathogenic g.47775492del g.46355577del - - PCNT_000015 - PubMed: Elen Griffith 2008 - - Unknown - - - 0 - Emmelien Aten
-?/. - c.1914A>C r.(?) p.(Glu638Asp) - likely benign g.47775519A>C g.46355604A>C PCNT(NM_006031.5):c.1914A>C (p.E638D) - PCNT_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1935A>G r.(?) p.(Gln645=) - VUS g.47775540A>G g.46355625A>G PCNT(NM_006031.5):c.1935A>G (p.Q645=) - PCNT_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1936+18C>T r.(=) p.(=) - likely benign g.47775559C>T g.46355644C>T PCNT(NM_006031.5):c.1936+18C>T - PCNT_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1943C>G r.(?) p.(Pro648Arg) - likely benign g.47776895C>G g.46356980C>G PCNT(NM_006031.5):c.1943C>G (p.(Pro648Arg)) - PCNT_000405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1971C>G r.(?) p.(Asp657Glu) - likely benign g.47776923C>G g.46357008C>G PCNT(NM_006031.5):c.1971C>G (p.D657E) - PCNT_000406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2033A>G r.(?) p.(Lys678Arg) - likely benign g.47776985A>G g.46357070A>G PCNT(NM_006031.5):c.2033A>G (p.K678R, p.(Lys678Arg)) - PCNT_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2033A>G r.(?) p.(Lys678Arg) - likely benign g.47776985A>G g.46357070A>G PCNT(NM_006031.5):c.2033A>G (p.K678R, p.(Lys678Arg)) - PCNT_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2057C>A r.(?) p.(Thr686Asn) - VUS g.47777009C>A g.46357094C>A PCNT(NM_006031.5):c.2057C>A (p.(Thr686Asn)) - PCNT_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2062C>T r.(?) p.(Leu688Phe) - VUS g.47777014C>T g.46357099C>T PCNT(NM_006031.5):c.2062C>T (p.L688F) - PCNT_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2111G>A r.(?) p.(Gly704Glu) - benign g.47777063G>A g.46357148G>A PCNT(NM_006031.5):c.2111G>A (p.G704E), PCNT(NM_006031.6):c.2111G>A (p.G704E) - PCNT_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2111G>A r.(?) p.(Gly704Glu) - benign g.47777063G>A g.46357148G>A PCNT(NM_006031.5):c.2111G>A (p.G704E), PCNT(NM_006031.6):c.2111G>A (p.G704E) - PCNT_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2155-6C>T r.(=) p.(=) - likely benign g.47783389C>T g.46363474C>T PCNT(NM_006031.5):c.2155-6C>T - PCNT_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2272G>A r.(?) p.(Glu758Lys) - likely benign g.47783512G>A g.46363597G>A PCNT(NM_006031.5):c.2272G>A (p.E758K) - PCNT_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2308A>G r.(?) p.(Met770Val) - likely benign g.47783548A>G g.46363633A>G PCNT(NM_006031.5):c.2308A>G (p.M770V, p.(Met770Val)) - PCNT_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2308A>G r.(?) p.(Met770Val) - likely benign g.47783548A>G g.46363633A>G PCNT(NM_006031.5):c.2308A>G (p.M770V, p.(Met770Val)) - PCNT_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/? 14 c.2326_2327del r.(?) p.(Glu776Lysfs*3) - pathogenic g.47783566_47783567del g.46363651_46363652del 2326_2327delGA - PCNT_000002 - PubMed: Willems 2009 - - Unknown - - - 0 - Emmelien Aten
-?/. - c.2376A>C r.(?) p.(Arg792=) - likely benign g.47783616A>C g.46363701A>C PCNT(NM_006031.5):c.2376A>C (p.R792=) - PCNT_000476 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2407C>T r.(?) p.(Gln803Ter) - pathogenic g.47783647C>T g.46363732C>T PCNT(NM_006031.5):c.2407C>T (p.Q803*) - PCNT_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. 14 c.2407C>T r.(?) p.(Gln803Ter) ACMG pathogenic (recessive) g.47783647C>T g.46363732C>T - - PCNT_000223 ACMG PVS1, PM2, PP3, PP4 PubMed: Kritioti 2021 - - Germline - - - 0 - Johan den Dunnen
-/. - c.2415C>G r.(?) p.(Ala805=) - benign g.47783655C>G g.46363740C>G PCNT(NM_006031.5):c.2415C>G (p.A805=) - PCNT_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2458C>T r.(?) p.(Arg820Cys) - likely benign g.47783698C>T - PCNT(NM_006031.5):c.2458C>T (p.(Arg820Cys)) - PCNT_000499 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2556T>C r.(?) p.(Ala852=) - benign g.47783796T>C g.46363881T>C PCNT(NM_006031.5):c.2556T>C (p.A852=), PCNT(NM_006031.6):c.2556T>C (p.A852=) - PCNT_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2556T>C r.(?) p.(Ala852=) - benign g.47783796T>C g.46363881T>C PCNT(NM_006031.5):c.2556T>C (p.A852=), PCNT(NM_006031.6):c.2556T>C (p.A852=) - PCNT_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2558C>T r.(?) p.(Ala853Val) - likely benign g.47783798C>T - PCNT(NM_006031.5):c.2558C>T (p.A853V) - PCNT_000500 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2610-8T>C r.(=) p.(=) - likely benign g.47786491T>C g.46366576T>C PCNT(NM_006031.5):c.2610-8T>C (, p.(=)) - PCNT_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2610-8T>C r.(=) p.(=) - likely benign g.47786491T>C g.46366576T>C PCNT(NM_006031.5):c.2610-8T>C (, p.(=)) - PCNT_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2610-5C>T r.spl? p.? - benign g.47786494C>T g.46366579C>T PCNT(NM_006031.5):c.2610-5C>T, PCNT(NM_006031.6):c.2610-5C>T - PCNT_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2610-5C>T r.spl? p.? - benign g.47786494C>T g.46366579C>T PCNT(NM_006031.5):c.2610-5C>T, PCNT(NM_006031.6):c.2610-5C>T - PCNT_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2635A>G r.(?) p.(Thr879Ala) - benign g.47786524A>G g.46366609A>G PCNT(NM_006031.5):c.2635A>G (p.T879A) - PCNT_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2679C>T r.(?) p.(Ala893=) - likely benign g.47786568C>T g.46366653C>T PCNT(NM_006031.5):c.2679C>T (p.A893=) - PCNT_000411 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2692G>A r.(?) p.(Ala898Thr) - likely benign g.47786581G>A g.46366666G>A PCNT(NM_006031.5):c.2692G>A (p.A898T), PCNT(NM_006031.6):c.2692G>A (p.A898T) - PCNT_000412 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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