Full data view for gene PCNT

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     

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     
-?/. - c.-1560A>T r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.-1515T>C r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.-16G>T r.(?) p.(=) Unknown - benign g.47744127G>T g.46324213G>T PCNT(NM_006031.5):c.-16G>T - PCNT_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.54+6C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.54+6C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.54+11G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.89A>G r.(?) p.(Asp30Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.196G>T r.(?) p.(Gly66*) Both (homozygous) - pathogenic g.47746432G>T g.46326518G>T - - PCNT_000017 - PubMed: Shaheen 2014, Journal: Shaheen 2014 - - Germline yes - - 0 - DNA PCR - - MOPD-2 - PubMed: Shaheen 2014, Journal: Shaheen 2014 - M yes Saudi Arabia Arab - 0 - - 1 Fowzan Alkuraya
?/. - c.237del r.(?) p.(Asp80MetfsTer173) Unknown - VUS g.47746473del g.46326559del PCNT(NM_006031.5):c.237del (p.(Asp80MetfsTer173)) - C21orf58_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247G>C r.(?) p.(Gly83Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.389A>G r.(?) p.(His130Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406G>A r.(?) p.(Gly136Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.406G>A r.(?) p.(Gly136Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.418C>T r.(?) p.(Pro140Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.428_466del r.(?) p.(Arg143_Gln155del) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.444_445insGGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTC r.(?) p.(Val148_Ser149insGlyAspHisProProGluGlnHisGlyMetPheThrVal) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445A>G r.(?) p.(Ser149Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.467A>G r.(?) p.(His156Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.467_505del r.(?) p.(His156_Gln168del) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.467_505del r.(?) p.(His156_Gln168del) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.467_505del r.(?) p.(His156_Gln168del) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.467_505dup r.(?) p.(His156_Gln168dup) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.467_505dup r.(?) p.(His156_Gln168dup) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.467_505dup r.(?) p.(His156_Gln168dup) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.471G>A r.(?) p.(Gly157=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.481G>A r.(?) p.(Val161Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.494_532del r.(?) p.(Pro165_His177del) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.498A>G r.(?) p.(Pro166=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.506G>A r.(?) p.(Arg169His) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.517A>G r.(?) p.(Thr173Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.520A>G r.(?) p.(Ile174Val) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.520A>G r.(?) p.(Ile174Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.533A>C r.(?) p.(Gln178Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.533A>C r.(?) p.(Gln178Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.591C>G r.(?) p.(Ile197Met) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.623G>A r.(?) p.(Arg208His) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.623G>A r.(?) p.(Arg208His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.644G>A r.(?) p.(Cys215Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.658G>T r.(?) p.(Glu220*) Both (homozygous) ACMG pathogenic g.47766060G>T g.46346146G>T - - PCNT_000174 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MOPD-2 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+/? 4 c.658G>T r.(?) p.(Glu220*) Both (homozygous) - pathogenic g.47766060G>T g.46346146G>T - - PCNT_000014 - PubMed: Elen Griffith 2008 - - Unknown - - - 0 - DNA SEQ - - SCKL-1 - PubMed: Elen Griffith 2008 Normal skeletal survey. Receding forehead, high nasal bridge, prominent nose, retrognathia. 5th finger clinodactyly. Proportionate short stature. Motor delay. MRI: thin corpus callosum, increased extra-axial spaces. Reduced white matter. 46XY. M - Saudi Arabia - - 0 - - 1 Emmelien Aten
+/? 4 c.658G>T r.(?) p.(Glu220*) Both (homozygous) - pathogenic g.47766060G>T g.46346146G>T - - PCNT_000014 - PubMed: Elen Griffith 2008 - - Unknown - - - 0 - DNA SEQ - - SCKL-1 - PubMed: Elen Griffith 2008 Receding forehead, peaked prominent nose, microretrognathia. Short neck, low posterior hairline. Some areas of skin hyperpigmentation. Significant learning difficulties. Dysplastic hips, unequal femur length. Myopia. Short mid-phalanges. Diabetes Mellitus. 46XX. F - Saudi Arabia - - 0 - - 1 Emmelien Aten
-/. - c.711T>G r.(?) p.(His237Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.711T>G r.(?) p.(His237Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.720+8G>A r.(=) p.(=) Unknown - likely benign g.47766130G>A - PCNT(NM_006031.5):c.720+8G>A - PCNT_000505 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.720+17T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.720+17T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.721-7G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.721-7G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.724G>A r.(?) p.(Val242Met) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.824C>T r.(?) p.(Thr275Met) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.904G>A r.(?) p.(Glu302Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.904G>A r.(?) p.(Glu302Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.904G>A r.(?) p.(Glu302Lys) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.935G>A r.(?) p.(Arg312Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.959G>A r.(?) p.(Arg320Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1178_1180del r.(?) p.(Lys393del) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1246A>G r.(?) p.(Ile416Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1489C>A r.(?) p.(Arg497Ser) Unknown - likely benign g.47773050C>A - PCNT(NM_006031.5):c.1489C>A (p.(Arg497Ser)) - PCNT_000492 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1519C>G r.(?) p.(Arg507Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.1519C>G r.(?) p.(Arg507Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1542C>A r.(?) p.(Ser514=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.1542C>A r.(?) p.(Ser514=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.1590T>C r.(?) p.(Ala530=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.1616C>T r.(?) p.(Thr539Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/? 11 c.1753C>T r.(?) p.(Arg585*) Both (homozygous) - pathogenic g.47773974C>T g.46354060C>T - - PCNT_000001 - PubMed: Willems 2009 - - Unknown - - Tsp45I+;Bpu10I- 0 - DNA SEQ - - SCKL-1 - PubMed: Willems 2009 Microdontia, Pyelic ectasia F - Morocco - - 0 - - 1 Emmelien Aten
-?/. - c.1784C>T r.(?) p.(Ala595Val) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.1825G>A r.(?) p.(Glu609Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1879G>C r.(?) p.(Glu627Gln) Both (homozygous) ACMG likely pathogenic (recessive) g.47775484G>C g.46355569G>C - - PCNT_000498 ACMG PS4,PM2 PubMed: Anazi 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - clinical WES ID 17DG0772 PubMed: Anazi 2017 familial F - - - - 0 - - 1 Johan den Dunnen
+/? 12 c.1887del r.(?) p.(Ala630Hisfs*66) Both (homozygous) - pathogenic g.47775492del g.46355577del - - PCNT_000015 - PubMed: Elen Griffith 2008 - - Unknown - - - 0 - DNA SEQ - - SCKL-1 - PubMed: Elen Griffith 2008 Prominent nose, small ears, receding forehead and chin. Short philtrum. Deep voice, small broken?? teeth. No abnormal pigmentation. Proportionate short stature. Normal skeletal survey with minor scoliosis. Slightly advanced bone age. 46XX. IQ 44. Growth Hormone levels normal F - Kuwait - - 0 - - 1 Emmelien Aten
-?/. - c.1914A>C r.(?) p.(Glu638Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.1935A>G r.(?) p.(Gln645=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.1936+18C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.1943C>G r.(?) p.(Pro648Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1971C>G r.(?) p.(Asp657Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2033A>G r.(?) p.(Lys678Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.2033A>G r.(?) p.(Lys678Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2057C>A r.(?) p.(Thr686Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.2062C>T r.(?) p.(Leu688Phe) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.2111G>A r.(?) p.(Gly704Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.2111G>A r.(?) p.(Gly704Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.2155-6C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.2272G>A r.(?) p.(Glu758Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.2308A>G r.(?) p.(Met770Val) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.2308A>G r.(?) p.(Met770Val) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/? 14 c.2326_2327del r.(?) p.(Glu776Lysfs*3) Both (homozygous) - pathogenic g.47783566_47783567del g.46363651_46363652del 2326_2327delGA - PCNT_000002 - PubMed: Willems 2009 - - Unknown - - - 0 - DNA SEQ - - MOPD-2 - PubMed: Willems 2009 Cafe au lait spots. Moyamoya disease complicated with rupture of CNS vessels. M - Algeria - - 0 - - 1 Emmelien Aten
-?/. - c.2376A>C r.(?) p.(Arg792=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2407C>T r.(?) p.(Gln803Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 14 c.2407C>T r.(?) p.(Gln803Ter) Both (homozygous) ACMG pathogenic (recessive) g.47783647C>T g.46363732C>T - - PCNT_000223 ACMG PVS1, PM2, PP3, PP4 PubMed: Kritioti 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? Pat1 PubMed: Kritioti 2021 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents F yes Cyprus Greece - 0 - - 1 Johan den Dunnen
-/. - c.2415C>G r.(?) p.(Ala805=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.2458C>T r.(?) p.(Arg820Cys) Unknown - likely benign g.47783698C>T - PCNT(NM_006031.5):c.2458C>T (p.(Arg820Cys)) - PCNT_000499 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2556T>C r.(?) p.(Ala852=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.2556T>C r.(?) p.(Ala852=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.2558C>T r.(?) p.(Ala853Val) Unknown - likely benign g.47783798C>T - PCNT(NM_006031.5):c.2558C>T (p.A853V) - PCNT_000500 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2610-8T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.2610-8T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2610-5C>T r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.2610-5C>T r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.2635A>G r.(?) p.(Thr879Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.2679C>T r.(?) p.(Ala893=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2692G>A r.(?) p.(Ala898Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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