Full data view for gene CNTNAP2

Information The variants shown are described using the NM_014141.5 transcript reference sequence.

192 entries on 2 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     
+/. 9i_10i c.(1498+1_1499-1)_(1670+1_1671_1)del r.? p.? Both (homozygous) - pathogenic g.(146997383_147092700)_(147092873_147183026)del - - - CNTNAP2_000019 - PubMed: Karaca 2015 - - Germline - - - - - DNA arrayCGH - - ? 26539891-BAB3747 PubMed: Karaca 2015 2-generation family, 2 affected brothers, unaffected carrier parents M yes Turkey - - - - - 2 Johan den Dunnen
?/. - c.73G>A r.(?) p.(Ala25Thr) Unknown - VUS g.145814041G>A g.146116949G>A CNTNAP2(NM_014141.5):c.73G>A (p.A25T, p.(Ala25Thr)), CNTNAP2(NM_014141.6):c.73G>A (p.A25T) - CNTNAP2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.73G>A r.(?) p.(Ala25Thr) Unknown - VUS g.145814041G>A g.146116949G>A CNTNAP2(NM_014141.5):c.73G>A (p.A25T, p.(Ala25Thr)), CNTNAP2(NM_014141.6):c.73G>A (p.A25T) - CNTNAP2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.73G>A r.(?) p.(Ala25Thr) Unknown - VUS g.145814041G>A g.146116949G>A CNTNAP2(NM_014141.5):c.73G>A (p.A25T, p.(Ala25Thr)), CNTNAP2(NM_014141.6):c.73G>A (p.A25T) - CNTNAP2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.73G>A r.(?) p.(Ala25Thr) Unknown - benign g.145814041G>A g.146116949G>A CNTNAP2(NM_014141.5):c.73G>A (p.A25T, p.(Ala25Thr)), CNTNAP2(NM_014141.6):c.73G>A (p.A25T) - CNTNAP2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.90C>T r.(?) p.(Ser30=) Unknown - likely benign g.145814058C>T g.146116966C>T CNTNAP2(NM_014141.5):c.90C>T (p.S30=) - CNTNAP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.97C>G r.(?) p.(Gln33Glu) Unknown - VUS g.145814065C>G g.146116973C>G CNTNAP2(NM_014141.5):c.97C>G (p.(Gln33Glu)) - CNTNAP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_3i c.(97+1_97+262659)_(98-148420_403-1)del r.? p.? Unknown - pathogenic (dominant) g.(145814066_146076724)_(146322943_146740998)del g.(146116974_146379632)_(146625851_147043906)del hg19 146,076,724-146,322,943del - CNTNAP2_000121 246 kb intragenic deletion; father not available PubMed: Mikhail 2011, Journal: Mikhail 2011 - - Germline/De novo (untested) - - - - - DNA arrayCGH, FISH - - ? Pat5 PubMed: Mikhail 2011, Journal: Mikhail 2011 - F - - - - - - - 1 Johan den Dunnen
+?/. 1i_2i c.(97+1_98-1)_(208+1_209-1)dup r.? p.? Unknown - likely pathogenic g.(145814066_146471362)_(146471474_146536802)del - 97+?_209-?dup - CNTNAP2_000136 - - - - Germline - - - - - DNA ? - - ? - - - M no - - - - - - 1 Marcello Scala
?/. - c.275G>A r.(?) p.(Arg92Gln) Unknown - VUS g.146536869G>A g.146839777G>A CNTNAP2(NM_014141.6):c.275G>A (p.(Arg92Gln)) - CNTNAP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.318C>T r.(?) p.(Ser106=) Unknown - benign g.146536912C>T g.146839820C>T CNTNAP2(NM_014141.5):c.318C>T (p.S106=) - CNTNAP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.400T>G r.(?) p.(Trp134Gly) Unknown - VUS g.146536994T>G g.146839902T>G CNTNAP2(NM_014141.5):c.400T>G (p.W134G) - CNTNAP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.402+8A>G r.(=) p.(=) Unknown - benign g.146537004A>G g.146839912A>G CNTNAP2(NM_014141.5):c.402+8A>G - CNTNAP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.416A>G r.(?) p.(Asn139Ser) Unknown - VUS g.146741012A>G - CNTNAP2(NM_014141.5):c.416A>G (p.N139S), CNTNAP2(NM_014141.6):c.416A>G (p.(Asn139Ser)) - CNTNAP2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.416A>G r.(?) p.(Asn139Ser) Unknown - VUS g.146741012A>G - CNTNAP2(NM_014141.5):c.416A>G (p.N139S), CNTNAP2(NM_014141.6):c.416A>G (p.(Asn139Ser)) - CNTNAP2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.479G>A r.(?) p.(Arg160His) Unknown - VUS g.146741075G>A g.147043983G>A - - CNTNAP2_000002 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs138738227 Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_153:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
?/. - c.479G>A r.(?) p.(Arg160His) Unknown - VUS g.146741075G>A g.147043983G>A CNTNAP2(NM_014141.5):c.479G>A (p.R160H), CNTNAP2(NM_014141.6):c.479G>A (p.(Arg160His)) - CNTNAP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.479G>A r.(?) p.(Arg160His) Unknown - VUS g.146741075G>A g.147043983G>A CNTNAP2(NM_014141.5):c.479G>A (p.R160H), CNTNAP2(NM_014141.6):c.479G>A (p.(Arg160His)) - CNTNAP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.511C>T r.(?) p.(Arg171Cys) Unknown - VUS g.146741107C>T g.147044015C>T R171C - CNTNAP2_000125 - PubMed: Worthey 2013 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS SPCH Pat04/Pat6 PubMed: Eising 2018, PubMed: Worthey 2013 analysis 19 individuals with childhood apraxia of speech F - - - - - - - 1 Johan den Dunnen
?/. - c.542G>T r.(?) p.(Cys181Phe) Paternal (confirmed) ACMG VUS g.146741138G>T - - - CNTNAP2_000142 ACMG: PM2_SUP, PP3 - - - Germline ? - - - - DNA SEQ-NG-I - - PTHSL1 182027 - prenatal Dx after ultrasound abnormality F no - - - - - - 1 Andreas Laner
+/. - c.549del r.(?) p.(Trp184GlyfsTer22) Unknown - pathogenic g.146741145del g.147044053del CNTNAP2(NM_014141.6):c.549delC (p.W184Gfs*22) - CNTNAP2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.551-11T>G r.(=) p.(=) Unknown - likely benign g.146805228T>G g.147108136T>G CNTNAP2(NM_014141.6):c.551-11T>G - CNTNAP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.551-11_551-10insG r.(=) p.(=) Unknown - benign g.146805228_146805229insG g.147108136_147108137insG CNTNAP2(NM_014141.5):c.551-11_551-10insG, CNTNAP2(NM_014141.6):c.551-10delTinsGT, CNTNAP2(NM_014141.6):c.551-11_551-10insG - CNTNAP2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.551-11_551-10insG r.(=) p.(=) Unknown - benign g.146805228_146805229insG g.147108136_147108137insG CNTNAP2(NM_014141.5):c.551-11_551-10insG, CNTNAP2(NM_014141.6):c.551-10delTinsGT, CNTNAP2(NM_014141.6):c.551-11_551-10insG - CNTNAP2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.551-11_551-10insG r.(=) p.(=) Unknown - benign g.146805228_146805229insG g.147108136_147108137insG CNTNAP2(NM_014141.5):c.551-11_551-10insG, CNTNAP2(NM_014141.6):c.551-10delTinsGT, CNTNAP2(NM_014141.6):c.551-11_551-10insG - CNTNAP2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.551-8del r.(=) p.(=) Unknown - benign g.146805231del g.147108139del CNTNAP2(NM_014141.5):c.551-8delT - CNTNAP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.551-7G>T r.(=) p.(=) Unknown - likely benign g.146805232G>T g.147108140G>T CNTNAP2(NM_014141.5):c.551-7G>T (p.(=)) - CNTNAP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.551-7G>T r.(=) p.(=) Unknown - likely benign g.146805232G>T g.147108140G>T CNTNAP2(NM_014141.5):c.551-7G>T (p.(=)) - CNTNAP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.580G>A r.(?) p.(Val194Ile) Unknown - likely benign g.146805268G>A g.147108176G>A CNTNAP2(NM_014141.5):c.580G>A (p.V194I) - CNTNAP2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.632T>C r.(?) p.(Val211Ala) Unknown - benign g.146805320T>C g.147108228T>C CNTNAP2(NM_014141.5):c.632T>C (p.V211A) - CNTNAP2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.681C>A r.(?) p.(His227Gln) Unknown - likely benign g.146805369C>A - CNTNAP2(NM_014141.5):c.681C>A (p.(His227Gln)) - CNTNAP2_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.681C>T r.(?) p.(His227=) Unknown - likely benign g.146805369C>T g.147108277C>T CNTNAP2(NM_014141.5):c.681C>T (p.H227=), CNTNAP2(NM_014141.6):c.681C>T (p.H227=) - CNTNAP2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.681C>T r.(?) p.(His227=) Unknown - likely benign g.146805369C>T g.147108277C>T CNTNAP2(NM_014141.5):c.681C>T (p.H227=), CNTNAP2(NM_014141.6):c.681C>T (p.H227=) - CNTNAP2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.718C>T r.(?) p.(Leu240=) Unknown - likely benign g.146805406C>T - CNTNAP2(NM_014141.5):c.718C>T (p.L240=) - CNTNAP2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.755-5C>T r.spl? p.? Unknown - VUS g.146818066C>T g.147120974C>T - - CNTNAP2_000003 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_752:0/1:ATYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.837G>A r.(?) p.(Val279=) Unknown - likely benign g.146818153G>A - CNTNAP2(NM_014141.6):c.837G>A (p.V279=) - CNTNAP2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.854G>C r.(?) p.(Gly285Ala) Unknown - VUS g.146818170G>C g.147121078G>C CNTNAP2(NM_014141.5):c.854G>C (p.G285A), CNTNAP2(NM_014141.6):c.854G>C (p.G285A) - CNTNAP2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.854G>C r.(?) p.(Gly285Ala) Unknown - likely benign g.146818170G>C g.147121078G>C CNTNAP2(NM_014141.5):c.854G>C (p.G285A), CNTNAP2(NM_014141.6):c.854G>C (p.G285A) - CNTNAP2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.860G>A r.(?) p.(Ser287Asn) Unknown - likely benign g.146818176G>A g.147121084G>A CNTNAP2(NM_014141.6):c.860G>A (p.S287N) - CNTNAP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.924G>A r.(?) p.(Leu308=) Unknown - likely benign g.146818240G>A g.147121148G>A CNTNAP2(NM_014141.5):c.924G>A (p.L308=) - CNTNAP2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.940-13C>A r.(=) p.(=) Unknown - VUS g.146825772C>A g.147128680C>A CNTNAP2(NM_014141.6):c.940-13C>A - CNTNAP2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1031G>T r.(?) p.(Gly344Val) Unknown - VUS g.146825876G>T - CNTNAP2(NM_014141.6):c.1031G>T (p.(Gly344Val)) - CNTNAP2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1032C>T r.(?) p.(Gly344=) Unknown - likely benign g.146825877C>T - CNTNAP2(NM_014141.5):c.1032C>T (p.G344=) - CNTNAP2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1083G>A r.(?) p.(Val361=) Unknown - likely benign g.146825928G>A g.147128836G>A CNTNAP2(NM_014141.5):c.1083G>A (p.V361=, p.(=)), CNTNAP2(NM_014141.6):c.1083G>A (p.V361=) - CNTNAP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1083G>A r.(?) p.(Val361=) Unknown - VUS g.146825928G>A g.147128836G>A CNTNAP2(NM_014141.5):c.1083G>A (p.V361=, p.(=)), CNTNAP2(NM_014141.6):c.1083G>A (p.V361=) - CNTNAP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1083G>A r.(?) p.(Val361=) Unknown - likely benign g.146825928G>A g.147128836G>A CNTNAP2(NM_014141.5):c.1083G>A (p.V361=, p.(=)), CNTNAP2(NM_014141.6):c.1083G>A (p.V361=) - CNTNAP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1083G>A r.(?) p.(Val361=) Unknown - likely benign g.146825928G>A - CNTNAP2(NM_014141.5):c.1083G>A (p.V361=, p.(=)), CNTNAP2(NM_014141.6):c.1083G>A (p.V361=) - CNTNAP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1119G>A r.(?) p.(Thr373=) Unknown - benign g.146829372G>A g.147132280G>A CNTNAP2(NM_014141.5):c.1119G>A (p.T373=) - CNTNAP2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1135A>G r.(?) p.(Asn379Asp) Unknown - VUS g.146829388A>G g.147132296A>G CNTNAP2(NM_014141.5):c.1135A>G (p.N379D) - CNTNAP2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1157T>C r.(?) p.(Val386Ala) Parent #1 - VUS g.146829410T>C g.147132318T>C - - CNTNAP2_000140 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2937 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.1165C>T r.(?) p.(Arg389Trp) Unknown - VUS g.146829418C>T g.147132326C>T CNTNAP2(NM_014141.5):c.1165C>T (p.R389W) - CNTNAP2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1220A>G r.(?) p.(Asn407Ser) Unknown - likely benign g.146829473A>G g.147132381A>G CNTNAP2(NM_014141.5):c.1220A>G (p.N407S), CNTNAP2(NM_014141.6):c.1220A>G (p.N407S) - CNTNAP2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1220A>G r.(?) p.(Asn407Ser) Unknown - likely benign g.146829473A>G g.147132381A>G CNTNAP2(NM_014141.5):c.1220A>G (p.N407S), CNTNAP2(NM_014141.6):c.1220A>G (p.N407S) - CNTNAP2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1220A>G r.(?) p.(Asn407Ser) Unknown - likely benign g.146829473A>G - CNTNAP2(NM_014141.5):c.1220A>G (p.N407S), CNTNAP2(NM_014141.6):c.1220A>G (p.N407S) - CNTNAP2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1247C>T r.(?) p.(Ala416Val) Unknown - likely benign g.146829500C>T g.147132408C>T CNTNAP2(NM_014141.5):c.1247C>T (p.(Ala416Val)) - CNTNAP2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1249G>T r.(?) p.(Asp417Tyr) Unknown - VUS g.146829502G>T g.147132410G>T - - CNTNAP2_000004 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs147815978 Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_690:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.1308C>T r.(?) p.(Asn436=) Unknown - likely benign g.146829561C>T g.147132469C>T CNTNAP2(NM_014141.5):c.1308C>T (p.N436=) - CNTNAP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1311C>T r.(?) p.(Ile437=) Unknown - benign g.146829564C>T g.147132472C>T CNTNAP2(NM_014141.5):c.1311C>T (p.I437=), CNTNAP2(NM_014141.6):c.1311C>T (p.I437=) - CNTNAP2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1311C>T r.(?) p.(Ile437=) Unknown - likely benign g.146829564C>T g.147132472C>T CNTNAP2(NM_014141.5):c.1311C>T (p.I437=), CNTNAP2(NM_014141.6):c.1311C>T (p.I437=) - CNTNAP2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1329_1330insTA r.(?) p.(Gln444Tyrfs*11) Unknown - VUS g.146829582_146829583insTA g.147132490_147132491insTA - - CNTNAP2_000005 frameshift_insertion PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_508:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-/. - c.1349-30T>A r.(=) p.(=) Unknown - benign g.146997203T>A g.147300111T>A CNTNAP2(NM_014141.5):c.1349-30T>A - CNTNAP2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1406T>C r.(?) p.(Phe469Ser) Unknown - VUS g.146997290T>C g.147300198T>C - - CNTNAP2_000006 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 3/567 controls - - - DNA SEQ-NG - - Healthy/Control S_226:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.1406T>C r.(?) p.(Phe469Ser) Unknown - VUS g.146997290T>C g.147300198T>C - - CNTNAP2_000006 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 3/567 controls - - - DNA SEQ-NG - - Healthy/Control S_349:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.1406T>C r.(?) p.(Phe469Ser) Unknown - VUS g.146997290T>C g.147300198T>C - - CNTNAP2_000006 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 3/567 controls - - - DNA SEQ-NG - - Healthy/Control S_370:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.1455T>C r.(?) p.(Asn485=) Unknown - likely benign g.146997339T>C g.147300247T>C CNTNAP2(NM_014141.5):c.1455T>C (p.N485=) - CNTNAP2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1597T>A r.(?) p.(Leu533Ile) Unknown - likely benign g.147092799T>A - CNTNAP2(NM_014141.5):c.1597T>A (p.(Leu533Ile)) - CNTNAP2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1603G>A r.(?) p.(Glu535Lys) Unknown - likely benign g.147092805G>A g.147395713G>A CNTNAP2(NM_014141.5):c.1603G>A (p.E535K), CNTNAP2(NM_014141.6):c.1603G>A (p.E535K) - CNTNAP2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1603G>A r.(?) p.(Glu535Lys) Unknown - likely benign g.147092805G>A g.147395713G>A CNTNAP2(NM_014141.5):c.1603G>A (p.E535K), CNTNAP2(NM_014141.6):c.1603G>A (p.E535K) - CNTNAP2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1659G>A r.(?) p.(Ala553=) Unknown - benign g.147092861G>A g.147395769G>A CNTNAP2(NM_014141.5):c.1659G>A (p.A553=), CNTNAP2(NM_014141.6):c.1659G>A (p.A553=) - CNTNAP2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1659G>A r.(?) p.(Ala553=) Unknown - benign g.147092861G>A g.147395769G>A CNTNAP2(NM_014141.5):c.1659G>A (p.A553=), CNTNAP2(NM_014141.6):c.1659G>A (p.A553=) - CNTNAP2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1659G>A r.(?) p.(Ala553=) Unknown - benign g.147092861G>A g.147395769G>A CNTNAP2(NM_014141.5):c.1659G>A (p.A553=), CNTNAP2(NM_014141.6):c.1659G>A (p.A553=) - CNTNAP2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1671-7_1671-6dup r.(=) p.(=) Unknown - VUS g.147183020_147183021dup - CNTNAP2(NM_014141.6):c.1671-7_1671-6dup - CNTNAP2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1671-1G>T r.spl? p.? Parent #1 - pathogenic g.147183026G>T g.147485934G>T - - CNTNAP2_000126 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs730880276 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.1710G>A r.(?) p.(Ser570=) Unknown - benign g.147183066G>A g.147485974G>A CNTNAP2(NM_014141.5):c.1710G>A (p.S570=) - CNTNAP2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1725C>T r.(?) p.(Ser575=) Unknown - likely benign g.147183081C>T - CNTNAP2(NM_014141.6):c.1725C>T (p.S575=) - CNTNAP2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1777+5G>A r.spl? p.? Unknown - likely pathogenic g.147183138G>A g.147486046G>A - - CNTNAP2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1777+7G>A r.(=) p.(=) Unknown - likely benign g.147183140G>A - CNTNAP2(NM_014141.6):c.1777+7G>A - CNTNAP2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1777+10A>G r.(=) p.(=) Unknown - benign g.147183143A>G g.147486051A>G CNTNAP2(NM_014141.5):c.1777+10A>G, CNTNAP2(NM_014141.6):c.1777+10A>G - CNTNAP2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1777+10A>G r.(=) p.(=) Unknown - benign g.147183143A>G g.147486051A>G CNTNAP2(NM_014141.5):c.1777+10A>G, CNTNAP2(NM_014141.6):c.1777+10A>G - CNTNAP2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1777+10A>G r.(=) p.(=) Unknown - benign g.147183143A>G g.147486051A>G CNTNAP2(NM_014141.5):c.1777+10A>G, CNTNAP2(NM_014141.6):c.1777+10A>G - CNTNAP2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1777+13T>G r.(=) p.(=) Unknown - likely benign g.147183146T>G g.147486054T>G CNTNAP2(NM_014141.5):c.1777+13T>G, CNTNAP2(NM_014141.6):c.1777+13T>G - CNTNAP2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1777+13T>G r.(=) p.(=) Unknown - likely benign g.147183146T>G g.147486054T>G CNTNAP2(NM_014141.5):c.1777+13T>G, CNTNAP2(NM_014141.6):c.1777+13T>G - CNTNAP2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1786G>A r.(?) p.(Glu596Lys) Unknown - VUS g.147259238G>A g.147562146G>A CNTNAP2(NM_014141.5):c.1786G>A (p.E596K) - CNTNAP2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1854C>T r.(?) p.(Gly618=) Unknown - likely benign g.147259306C>T g.147562214C>T CNTNAP2(NM_014141.5):c.1854C>T (p.G618=) - CNTNAP2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1868G>A r.(?) p.(Gly623Glu) Unknown - VUS g.147259320G>A g.147562228G>A - - CNTNAP2_000007 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_548:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.1897+8T>C r.(=) p.(=) Unknown - likely benign g.147259357T>C g.147562265T>C CNTNAP2(NM_014141.6):c.1897+8T>C - CNTNAP2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1897+25A>G r.(=) p.(=) Unknown - benign g.147259374A>G g.147562282A>G CNTNAP2(NM_014141.5):c.1897+25A>G - CNTNAP2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1898-1_1903del r.spl? p.? Unknown - likely benign g.147336197_147336203del g.147639105_147639111del CNTNAP2(NM_014141.6):c.1898-4_1900delACAGAGG - CNTNAP2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2038G>A r.(?) p.(Glu680Lys) Unknown - VUS g.147336338G>A - CNTNAP2(NM_014141.6):c.2038G>A (p.(Glu680Lys)) - CNTNAP2_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2047G>A r.(?) p.(Glu683Lys) Unknown - VUS g.147336347G>A - CNTNAP2(NM_014141.5):c.2047G>A (p.E683K) - CNTNAP2_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2098+5G>A r.spl? p.? Maternal (confirmed) ACMG VUS g.147336403G>A - - - CNTNAP2_000143 ACMG: PM2_SUP, PP3 - - - Germline ? - - - - DNA SEQ-NG-I - - PTHSL1 182027 - prenatal Dx after ultrasound abnormality F no - - - - - - 1 Andreas Laner
-/. - c.2099-15T>C r.(=) p.(=) Unknown - benign g.147600642T>C g.147903550T>C CNTNAP2(NM_014141.5):c.2099-15T>C, CNTNAP2(NM_014141.6):c.2099-15T>C - CNTNAP2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2099-15T>C r.(=) p.(=) Unknown - benign g.147600642T>C g.147903550T>C CNTNAP2(NM_014141.5):c.2099-15T>C, CNTNAP2(NM_014141.6):c.2099-15T>C - CNTNAP2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2123T>C r.(?) p.(Val708Ala) Unknown - VUS g.147600681T>C g.147903589T>C CNTNAP2(NM_014141.5):c.2123T>C (p.(Val708Ala)) - CNTNAP2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2147A>G r.(?) p.(Tyr716Cys) Unknown - VUS g.147600705A>G g.147903613A>G - - CNTNAP2_000008 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_727:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
+?/. - c.2148C>G r.(?) p.(Tyr716Ter) Unknown - likely pathogenic g.147600706C>G - CNTNAP2(NM_014141.6):c.2148C>G (p.Y716*) - CNTNAP2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2153G>A r.(?) p.(Trp718*) Parent #1 - pathogenic g.147600711G>A g.147903619G>A - - CNTNAP2_000127 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398124268 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
./. - c.2206T>A r.(?) p.(Cys736Ser) Unknown - VUS g.147600764T>A g.147903672T>A - - CNTNAP2_000009 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_257:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
?/. - c.2206T>A r.(?) p.(Cys736Ser) Unknown - VUS g.147600764T>A g.147903672T>A CNTNAP2(NM_014141.5):c.2206T>A (p.(Cys736Ser)) - CNTNAP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2207G>A r.(?) p.(Cys736Tyr) Unknown - VUS g.147600765G>A g.147903673G>A - - CNTNAP2_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_444:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
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