Numune Bilgileri

Numune ID Ad Soyad TC Kimlik No Numune Geliş Tarihi Raporlanma Tarihi
180XXXX Ad ve Soyad XXXXXXXXXXXX 01.11.2018 07.11.2018

Sonuç Özeti

DNA örneğinin genotiplendirme sonrasında hesaplananveri eldesi değeri (Call Rate) >0.99 olup, bu değer SNP belirteçlerinin çok yüksek doğruluk oranı ile genotiplendirildiğini göstermektedir. Tablo 1’de numunede tespit edilen tüm kromozomal değişiklikler raporlanmıştır.

Tablo 1: Hastada tespit edilen tüm kromozomal anomalilerin özeti
Değişim Kopya Kromozom Başlangıç Bitiş Uzunluk Probe Bölge
Kazanç 3 4 55202157 55273158 71002 15 q12
Kazanç 3 14 23094134 23175786 81653 18 q11.2
Kazanç 3 16 29595483 30199713 604231 104 p11.2
LOH 2 3 100897035 101977580 1080546 167 q12.2; q12.3
LOH 2 3 165406556 166479418 1072863 169 q26.1
LOH 2 5 41149445 46399093 5249649 666 p13.1; p12; p11
LOH 2 10 110930000 112135564 1205565 188 q25.1; q25.2
LOH 2 13 31580006 32713634 1133629 260 q12.3; q13.1

Sonuç: Elde edilen genotip verisi kullanılarak yapılan biyoinformatik analiz sonrasında 4q12 bölgesinde Kazanç; 14q11.2 bölgesinde Kazanç; 16p11.2 bölgesinde Kazanç tespit edilmiştir. Analiz sonucunda cinsiyet Erkek olarak tespit edilmiştir.

Bu duplikasyon ve delesyonların ayrıntıları raporun devamında verilmiştir. Ayrıca çeşitli kromozom bölgelerinde heterozigotluk kayıpları da tespit edilmiş olup, 3 Mb’ın üzerindeki LOH (Loss of Heterozygosity) bölgeleri raporun ekinde listelenmiştir.



Sonuçlar

Kazanç chr4:55202157-55273158

Grafik

Değişim Kopya Kromozom Başlangıç Bitiş Uzunluk Probe Bölge Genler
Kazanç 3 4 55202157 55273158 71002 15 q12

Güvenilir




OMIM


Bölge içinde OMIM’de kayıtlı bir gen yer almamaktadır.




ClinGen 1

Varyant ID Krom Başlangıç Bitiş Değişim Yorum Fenotip Kapsam
nssv577971 4 52736191 55968559 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 2.2


Postnatal örneklerde gerçekleştirilen rutin klinik sitogenetik çalışmalar kapsamında tespit edilen kopya sayısı değişimleri ve örneklerdeki fenotip özellikleri listelenmiştir. Kapsama oranı %1’den daha küçük olan bölgeler liste dışında bırakılmıştır. Çalışma ve derleme Kaminsky, et al. 2011 tarafından gerçekleştirilmiştir. Veritabanı detayları nstd101 kodlu dbVar çalışmasından elde edilmiştir.
Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., … Martin, C. L. (2011). An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genetics in Medicine, 13(9), 777–784.




ISCA


Bölge içinde ISCA veritabanında kayıtlı bir varyant yer almamaktadır.




Kazanç chr14:23094134-23175786

Grafik

Değişim Kopya Kromozom Başlangıç Bitiş Uzunluk Probe Bölge Genler
Kazanç 3 14 23094134 23175786 81653 18 q11.2

Güvenilir




OMIM


Bölge içinde OMIM’de kayıtlı bir gen yer almamaktadır.




ClinGen 2

Varyant ID Krom Başlangıç Bitiş Değişim Yorum Fenotip Kapsam
nssv577452 14 20223408 23210490 Kayıp Pathogenic Global developmental delay % 2.7
nssv578668 14 20619308 23911404 Kazanç Pathogenic Cleft palate;Cleft upper lip % 2.5


Postnatal örneklerde gerçekleştirilen rutin klinik sitogenetik çalışmalar kapsamında tespit edilen kopya sayısı değişimleri ve örneklerdeki fenotip özellikleri listelenmiştir. Kapsama oranı %1’den daha küçük olan bölgeler liste dışında bırakılmıştır. Çalışma ve derleme Kaminsky, et al. 2011 tarafından gerçekleştirilmiştir. Veritabanı detayları nstd101 kodlu dbVar çalışmasından elde edilmiştir.
Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., … Martin, C. L. (2011). An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genetics in Medicine, 13(9), 777–784.




ISCA 2

Varyant ID Krom Başlangıç Bitiş Değişim Yorum Fenotip Kapsam
nssv1610338 14 21478949 23421023 Kazanç Uncertain significance Autism % 4.2
nssv1495740 14 20880746 25487326 Kazanç Likely pathogenic Global developmental delay % 1.8


Postnatal örneklerde gerçekleştirilen rutin klinik sitogenetik çalışmalar kapsamında tespit edilen kopya sayısı değişimleri ve örneklerdeki fenotip özellikleri listelenmiştir. Kapsama oranı %1’den daha küçük olan bölgeler liste dışında bırakılmıştır. Çalışma ve derleme Kaminsky, et al. 2011 tarafından gerçekleştirilmiştir. Veritabanı detayları nstd37 kodlu dbVar çalışmasından elde edilmiştir.
Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., … Martin, C. L. (2011). An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genetics in Medicine, 13(9), 777–784.




Kazanç chr16:29595483-30199713

Grafik

Değişim Kopya Kromozom Başlangıç Bitiş Uzunluk Probe Bölge Genler
Kazanç 3 16 29595483 30199713 604231 104 p11.2 MIR3680-2; SPN; QPRT; C16orf54; ZG16; KIF22; MAZ; PRRT2; PAGR1; MVP; CDIPT; SEZ6L2; ASPHD1; KCTD13; TMEM219; TAOK2; HIRIP3; INO80E; DOC2A; C16orf92; FAM57B; ALDOA; PPP4C; TBX6; YPEL3; GDPD3; MAPK3; CORO1A

Güvenilir




OMIM 4

Gen Sistem Hastalık Tip Kalıtım
PRRT2 Brain/Cognition Autosomal Recessive Mental Retardation loss of function Autosomal recessive
PRRT2 Brain/Cognition Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome loss of function Autosomal dominant
ALDOA Musculature; Endocrine/Metabolic Glycogen Storage Disease Xii all missense/in frame Autosomal recessive
KIF22 Skeleton Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 activating Autosomal dominant


Tespit edilen anomali içinde yer alan genlerden OMIM (Online Mendelian Inheritance in Man) veritabanı içinde yer alanlar listelenmiştir. Filtreleme kapsamında pseudogenler ve ncRNA genleri kapsam dışı bırakılmıştır.
Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD)




ClinGen 87

Varyant ID Krom Başlangıç Bitiş Değişim Yorum Fenotip Kapsam
nssv579335 16 29612214 30198600 Kazanç Uncertain significance Anal atresia;Blue sclerae;Failure to thrive;Large fontanelles % 100
nssv579829 16 29656684 30194753 Kayıp Pathogenic Global developmental delay;Short stature % 100
nssv579828 16 29656684 30194753 Kayıp Pathogenic Aggressive behavior;Attention deficit hyperactivity disorder;Autism;Small face % 100
nssv579827 16 29656684 30194753 Kayıp Pathogenic Macrocephaly % 100
nssv579826 16 29656684 30194753 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579825 16 29656684 30194753 Kayıp Pathogenic Abnormality of limb bone morphology;Global developmental delay;Muscular hypotonia;Polydactyly;Syndactyly % 100
nssv579824 16 29656684 30194753 Kayıp Pathogenic Macrocephaly % 100
nssv579823 16 29656684 30194753 Kayıp Pathogenic Agenesis of corpus callosum;Global developmental delay;High palate;Hypertelorism;Microcephaly;Muscular hypotonia;Seizures;Seizures % 100
nssv579822 16 29656684 30194753 Kayıp Pathogenic Almond-shaped palpebral fissure;Broad forehead;Cleft upper lip;Delayed speech and language development;Epicanthus;Global developmental delay;Intellectual disability;Short chin % 100
nssv579821 16 29656684 30194753 Kayıp Pathogenic Anophthalmia % 100
nssv579819 16 29656684 30194753 Kayıp Pathogenic Hypertrophic cardiomyopathy;Macrocephaly % 100
nssv579818 16 29656684 30194753 Kayıp Pathogenic Abnormal facial shape;Global developmental delay;Wide mouth % 100
nssv579339 16 29656684 30194753 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579830 16 29664529 30173854 Kayıp Pathogenic Autism;Global developmental delay % 100
nssv579341 16 29664529 30173854 Kazanç Uncertain significance Abnormal facial shape;Global developmental delay;Talipes equinovarus % 100
nssv579340 16 29664529 30173854 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579838 16 29673754 30190709 Kayıp Pathogenic Global developmental delay % 100
nssv579837 16 29673754 30190709 Kayıp Pathogenic Abnormality of the ear;Abnormality of the respiratory system % 100
nssv579836 16 29673754 30190709 Kayıp Pathogenic Global developmental delay % 100
nssv579835 16 29673754 30190709 Kayıp Pathogenic Seizures % 100
nssv579834 16 29673754 30190709 Kayıp Pathogenic Abnormal heart morphology % 100
nssv579832 16 29673754 30190709 Kayıp Pathogenic Seizures % 100
nssv579342 16 29673754 30190709 Kazanç Uncertain significance Seizures % 100
nssv579857 16 29673954 30190568 Kayıp Pathogenic Global developmental delay % 100
nssv579856 16 29673954 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579855 16 29673954 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579849 16 29673954 30190568 Kayıp Pathogenic Abnormal facial shape;Delayed speech and language development % 100
nssv579848 16 29673954 30190568 Kayıp Pathogenic Failure to thrive;Muscular hypotonia % 100
nssv579847 16 29673954 30190568 Kayıp Pathogenic Abnormality of the nervous system % 100
nssv579846 16 29673954 30190568 Kayıp Pathogenic Global developmental delay % 100
nssv579845 16 29673954 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579844 16 29673954 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579843 16 29673954 30190568 Kayıp Pathogenic Poor coordination % 100
nssv579841 16 29673954 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579840 16 29673954 30190568 Kayıp Pathogenic Microcephaly % 100
nssv579839 16 29673954 30190568 Kayıp Pathogenic Autism % 100
nssv579349 16 29673954 30190568 Kazanç Pathogenic Global developmental delay % 100
nssv579344 16 29673954 30190568 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579851 16 29673954 30198600 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579351 16 29673954 30198600 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579862 16 29673956 30119759 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579861 16 29673956 30119759 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579352 16 29673956 30197341 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579860 16 29673956 30198600 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579353 16 29673956 30198600 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579865 16 29674848 30194753 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579863 16 29674848 30194753 Kayıp Pathogenic Global developmental delay % 100
nssv579866 16 29819553 30173854 Kayıp Pathogenic Abnormal heart morphology;Abnormality of the skeletal system;Aganglionic megacolon;Agenesis of corpus callosum;Global developmental delay;Intrauterine growth retardation % 100
nssv579868 16 29841161 30194753 Kayıp Pathogenic Abnormal facial shape;Global developmental delay;Intellectual disability;Seizures % 100
nssv579867 16 29841161 30194753 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579354 16 29848968 30190709 Kazanç Uncertain significance Abnormal facial shape % 100
nssv579869 16 29855931 30198600 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv579817 16 29592783 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv579816 16 29592783 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv579812 16 29592783 30190568 Kayıp Pathogenic Global developmental delay % 99.5
nssv579811 16 29592783 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv579810 16 29592783 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv579808 16 29592783 30190568 Kayıp Pathogenic Intellectual disability;Obesity % 99.5
nssv579807 16 29592783 30190568 Kayıp Pathogenic Abnormality of the nervous system % 99.5
nssv579334 16 29592783 30190568 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv579332 16 29592783 30190568 Kazanç Uncertain significance Hepatic failure % 99.5
nssv579331 16 29592783 30190568 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv579330 16 29592783 30190568 Kazanç Uncertain significance Autism % 99.5
nssv579329 16 29592783 30190568 Kazanç Uncertain significance Abnormality of the nervous system % 99.5
nssv579328 16 29592783 30190568 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv579813 16 29592783 30173854 Kayıp Pathogenic Macrocephaly % 99.5
nssv579806 16 29592583 30190709 Kayıp Pathogenic Hyperkalemia % 99.5
nssv579805 16 29577762 30198600 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 97.1
nssv579327 16 29577761 30198600 Kazanç Uncertain significance Global developmental delay % 97.1
nssv579814 16 29592783 30332581 Kayıp Pathogenic Global developmental delay % 81.7
nssv579804 16 29452333 30194753 Kayıp Pathogenic Abnormality of the ribs;Agenesis of corpus callosum;Failure to thrive;Intrauterine growth retardation;Pectus carinatum % 80.7
nssv579803 16 29452333 30194753 Kayıp Pathogenic Intellectual disability % 80.7
nssv579324 16 29452333 30194753 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 80.7
nssv579338 16 29656684 30334631 Kazanç Uncertain significance Abnormal facial shape;Global developmental delay % 80.1
nssv579326 16 29452333 30334631 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 68.5
nssv579323 16 29452333 30334631 Kazanç Uncertain significance Global developmental delay % 68.5
nssv579801 16 29238593 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 62.5
nssv579322 16 29238593 30190568 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 62.5
nssv579319 16 29238393 30190709 Kazanç Uncertain significance Global developmental delay % 62.5
nssv579316 16 29238393 30190709 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 62.5
nssv579313 16 29181941 30190709 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 59
nssv579320 16 29238593 30332581 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 55.2
nssv579312 16 29097825 30345037 Kazanç Uncertain significance Autism % 48.4
nssv579800 16 28543104 30194753 Kayıp Pathogenic Autism;Global developmental delay % 36.3
nssv579311 16 28377432 30194753 Kazanç Uncertain significance Global developmental delay;Seizures % 33
nssv579796 16 28468288 30306428 Kayıp Pathogenic Global developmental delay;Obesity;Seizures % 32.9
nssv578711 16 23059290 30643566 Kazanç Pathogenic Autism;Global developmental delay % 8


Postnatal örneklerde gerçekleştirilen rutin klinik sitogenetik çalışmalar kapsamında tespit edilen kopya sayısı değişimleri ve örneklerdeki fenotip özellikleri listelenmiştir. Kapsama oranı %1’den daha küçük olan bölgeler liste dışında bırakılmıştır. Çalışma ve derleme Kaminsky, et al. 2011 tarafından gerçekleştirilmiştir. Veritabanı detayları nstd101 kodlu dbVar çalışmasından elde edilmiştir.
Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., … Martin, C. L. (2011). An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genetics in Medicine, 13(9), 777–784.




ISCA 301

Varyant ID Krom Başlangıç Bitiş Değişim Yorum Fenotip Kapsam
nssv13647528 16 29597822 30177240 Kayıp Pathogenic Delayed speech and language development;Intellectual disability;Motor delay;Muscular hypotonia % 100
nssv1610496 16 29609934 30177240 Kazanç Likely pathogenic Failure to thrive;Microcephaly % 100
nssv13655886 16 29609934 30177916 Kazanç Pathogenic Muscular hypotonia % 100
nssv585169 16 29620689 30190509 Kazanç Likely pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv1608696 16 29620689 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13642106 16 29624765 29624872 Kazanç Benign Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13644825 16 29624765 30197290 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13648099 16 29626499 30177240 Kazanç Pathogenic Autism % 100
nssv3394974 16 29638640 30177240 Kazanç Likely pathogenic Abnormal facial shape;Intellectual disability % 100
nssv585196 16 29646320 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv583618 16 29646320 30197290 Kayıp Pathogenic Global developmental delay % 100
nssv1609457 16 29646320 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13656289 16 29646320 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13655170 16 29646320 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13652911 16 29646320 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13652880 16 29646320 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13652061 16 29646320 30197290 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13647145 16 29646320 30197290 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13645651 16 29646320 30197290 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13645416 16 29646320 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13644018 16 29646320 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13643165 16 29646320 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13642356 16 29646320 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13639859 16 29646320 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv585251 16 29656684 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv583601 16 29656684 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13649492 16 29656684 30197290 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13643530 16 29656684 30197290 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv583604 16 29673954 30190509 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv584652 16 29725594 29738388 Kayıp Benign Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13643651 16 29974678 29979311 Kazanç Benign Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13641490 16 29620658 30190593 Kazanç Pathogenic Global developmental delay % 100
nssv13640101 16 29620658 30190593 Kazanç Pathogenic Global developmental delay % 100
nssv13648705 16 29656657 30190593 Kazanç Pathogenic Global developmental delay % 100
nssv13648315 16 29656657 30190593 Kayıp Pathogenic Global developmental delay % 100
nssv13645783 16 29656657 30190593 Kayıp Pathogenic Global developmental delay % 100
nssv13643887 16 29656657 30190593 Kazanç Pathogenic Global developmental delay % 100
nssv13642856 16 29656657 30190593 Kayıp Pathogenic Global developmental delay % 100
nssv13640085 16 29656657 30190593 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv13639104 16 29656657 30190593 Kayıp Pathogenic Global developmental delay % 100
nssv13643001 16 29656657 30197466 Kayıp Pathogenic Global developmental delay % 100
nssv13642869 16 29656657 30197466 Kayıp Pathogenic Global developmental delay % 100
nssv13642267 16 29656657 30197466 Kayıp Pathogenic Global developmental delay % 100
nssv1608882 16 29656684 30197341 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv1604150 16 29656684 30197341 Kayıp Pathogenic Autistic behavior;Delayed gross motor development;Delayed speech and language development % 100
nssv1604026 16 29656684 30197341 Kayıp Pathogenic Delayed gross motor development;Delayed speech and language development;Oligohydramnios;Seizures % 100
nssv1604000 16 29656684 30197341 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv1603195 16 29656684 30197341 Kayıp Pathogenic Global developmental delay % 100
nssv1603187 16 29656684 30197341 Kayıp Pathogenic Joint hypermobility % 100
nssv1602222 16 29656684 30197341 Kayıp Pathogenic Global developmental delay;Obesity % 100
nssv1601749 16 29656684 30197341 Kazanç Likely pathogenic Aplasia/Hypoplasia of the cerebellum % 100
nssv1495757 16 29656684 30197341 Kazanç Likely pathogenic Abnormal facial shape;Autistic behavior;Broad thumb;Delayed gross motor development;Delayed speech and language development;Intellectual disability % 100
nssv1495750 16 29656684 30197341 Kazanç Likely pathogenic Abnormal facial shape;Delayed speech and language development;Intellectual disability;Seizures % 100
nssv1495021 16 29656684 30197341 Kayıp Pathogenic Delayed speech and language development;Heart murmur % 100
nssv1494997 16 29656684 30197341 Kayıp Pathogenic Oral cleft % 100
nssv1494996 16 29656684 30197341 Kayıp Pathogenic Seizures % 100
nssv1415165 16 29656684 30197341 Kayıp Pathogenic Abnormality of the kidney % 100
nssv1415163 16 29656684 30197341 Kayıp Pathogenic Delayed speech and language development % 100
nssv1415105 16 29656684 30197341 Kazanç Likely pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv1415099 16 29656684 30197341 Kayıp Pathogenic Cognitive impairment;Delayed gross motor development;Delayed speech and language development;Intellectual disability % 100
nssv14082518 16 29656684 30197341 Kayıp Pathogenic Global developmental delay % 100
nssv706416 16 29673954 30190568 Kayıp Pathogenic Attention deficit hyperactivity disorder;Global developmental delay % 100
nssv706414 16 29673954 30190568 Kayıp Pathogenic Asthma;Global developmental delay;Recurrent urinary tract infections % 100
nssv583205 16 29673954 30190568 Kayıp Pathogenic Global developmental delay % 100
nssv582819 16 29673954 30190568 Kayıp Pathogenic Autism;Global developmental delay % 100
nssv582680 16 29673954 30190568 Kazanç Uncertain significance Global developmental delay % 100
nssv582603 16 29673954 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv582528 16 29673954 30190568 Kayıp Pathogenic Global developmental delay % 100
nssv582456 16 29673954 30190568 Kazanç Uncertain significance Intellectual disability, mild % 100
nssv582309 16 29673954 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv582294 16 29673954 30190568 Kayıp Pathogenic Global developmental delay % 100
nssv576439 16 29673954 30190568 Kayıp Pathogenic Global developmental delay % 100
nssv576388 16 29673954 30190568 Kayıp Pathogenic Iris coloboma % 100
nssv576303 16 29673954 30190568 Kayıp Pathogenic Autism;Intellectual disability;Obsessive-compulsive behavior;Oppositional defiant disorder % 100
nssv576302 16 29673954 30190568 Kayıp Pathogenic Global developmental delay % 100
nssv575813 16 29673954 30190568 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv575433 16 29673954 30190568 Kayıp Pathogenic Abnormal facial shape;Delayed speech and language development % 100
nssv3396637 16 29673954 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv3395995 16 29673954 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv14082234 16 29673954 30190568 Kayıp Pathogenic Global developmental delay % 100
nssv14082110 16 29673954 30190568 Kayıp Pathogenic Precocious puberty % 100
nssv707155 16 29673954 30197341 Kayıp Pathogenic Intellectual disability % 100
nssv707154 16 29673954 30197341 Kayıp Pathogenic Abnormal facial shape;Global developmental delay % 100
nssv707139 16 29673954 30198600 Kayıp Benign Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv707135 16 29673954 30198600 Kayıp Pathogenic Abnormal facial shape;Global developmental delay % 100
nssv584092 16 29673967 30190593 Kayıp Pathogenic Diarrhea;Failure to thrive;Otitis media;Sinusitis % 100
nssv1602935 16 29673967 30190593 Kayıp Pathogenic Obesity;Short stature;Specific learning disability % 100
nssv1602154 16 29673967 30190593 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 100
nssv1601748 16 29694091 30197341 Kazanç Likely pathogenic Delayed gross motor development;Generalized hypotonia % 100
nssv1609784 16 29592783 30197290 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.6
nssv1604353 16 29592791 30190593 Kayıp Pathogenic Autism % 99.5
nssv1601812 16 29592791 30190593 Kayıp Pathogenic Autism;Global developmental delay % 99.5
nssv1601537 16 29592791 30190593 Kayıp Pathogenic Autism;Intellectual disability % 99.5
nssv707181 16 29592783 30190568 Kayıp Pathogenic Dextrocardia % 99.5
nssv706417 16 29592783 30190568 Kayıp Pathogenic Cardiomyopathy;Chronic obstructive pulmonary disease;Global developmental delay % 99.5
nssv706379 16 29592783 30190568 Kayıp Pathogenic Hemivertebrae % 99.5
nssv706301 16 29592783 30190568 Kayıp Pathogenic Global developmental delay % 99.5
nssv584549 16 29592783 30190568 Kazanç Pathogenic Attention deficit hyperactivity disorder;Global developmental delay;Obesity % 99.5
nssv584536 16 29592783 30190568 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv584533 16 29592783 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv584532 16 29592783 30190568 Kayıp Pathogenic Hearing impairment;Intellectual disability % 99.5
nssv584360 16 29592783 30190568 Kazanç Pathogenic Failure to thrive % 99.5
nssv583264 16 29592783 30190568 Kayıp Pathogenic Global developmental delay % 99.5
nssv583194 16 29592783 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv583159 16 29592783 30190568 Kazanç Uncertain significance Global developmental delay % 99.5
nssv583041 16 29592783 30190568 Kayıp Pathogenic Autism % 99.5
nssv582848 16 29592783 30190568 Kayıp Pathogenic Attention deficit hyperactivity disorder % 99.5
nssv582805 16 29592783 30190568 Kayıp Pathogenic Delayed speech and language development;Macrocephaly % 99.5
nssv582769 16 29592783 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv582752 16 29592783 30190568 Kazanç Likely pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv582751 16 29592783 30190568 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv582635 16 29592783 30190568 Kayıp Pathogenic Autism % 99.5
nssv582574 16 29592783 30190568 Kazanç Uncertain significance Tremor % 99.5
nssv575388 16 29592783 30190568 Kazanç Uncertain significance Autism % 99.5
nssv3396122 16 29592783 30190568 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv14082023 16 29592783 30190568 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.5
nssv13650578 16 29592751 30190593 Kazanç Pathogenic Global developmental delay % 99.5
nssv13647148 16 29592751 30190593 Kayıp Pathogenic Global developmental delay % 99.5
nssv13645157 16 29591078 30177916 Kazanç Pathogenic Autism % 99.2
nssv13653780 16 29591078 30177807 Kazanç Likely pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.2
nssv13649806 16 29591078 30177240 Kazanç Likely pathogenic Abnormal heart morphology;Feeding difficulties;Maternal diabetes;Premature birth;Respiratory distress % 99.2
nssv13639918 16 29591078 30177240 Kazanç Likely pathogenic Delayed speech and language development;Incoordination % 99.2
nssv3396548 16 29590554 30197341 Kayıp Uncertain significance Abnormality of the ear;Abnormality of the face;Atrial septal defect;Craniosynostosis;Delayed gross motor development;Failure to thrive;High palate;Hypertelorism;Short stature;Smooth philtrum % 99.2
nssv1610093 16 29590554 30197341 Kayıp Pathogenic Bowel incontinence;Global developmental delay;Hepatic steatosis;Hypothyroidism;Insulin resistance;Obesity % 99.2
nssv1609606 16 29590554 30197341 Kayıp Pathogenic Global developmental delay % 99.2
nssv1608929 16 29590554 30197341 Kayıp Pathogenic Abnormal vertebral morphology;Premature birth;Scoliosis % 99.2
nssv1608844 16 29590554 30197341 Kayıp Pathogenic Delayed speech and language development;Global developmental delay % 99.2
nssv1608182 16 29590554 30197341 Kayıp Pathogenic Failure to thrive % 99.2
nssv1604378 16 29590554 30197341 Kayıp Pathogenic Global developmental delay % 99.2
nssv1603183 16 29590554 30197341 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.2
nssv1495022 16 29590554 30197341 Kayıp Pathogenic Global developmental delay % 99.2
nssv1495017 16 29590554 30197341 Kayıp Pathogenic Oral cleft % 99.2
nssv1495013 16 29590554 30197341 Kayıp Pathogenic Diarrhea % 99.2
nssv1415349 16 29590554 30197341 Kayıp Pathogenic Failure to thrive % 99.2
nssv1415272 16 29590554 30197341 Kazanç Likely pathogenic Accelerated skeletal maturation % 99.2
nssv1415128 16 29590554 30197341 Kazanç Likely pathogenic Delayed gross motor development;Microcephaly % 99.2
nssv1415102 16 29590554 30197341 Kayıp Pathogenic Delayed gross motor development;Delayed speech and language development % 99.2
nssv14081976 16 29590554 30197341 Kayıp Pathogenic Global developmental delay % 99.2
nssv1602718 16 29590554 30190568 Kazanç Likely pathogenic Global developmental delay % 99.2
nssv1495011 16 29590554 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 99.2
nssv1609464 16 29592783 29732297 Kazanç Likely benign Developmental delay AND/OR other significant developmental or morphological phenotypes % 98.1
nssv13639177 16 29580610 30177240 Kayıp Pathogenic Short stature % 97.5
nssv13654787 16 29580020 30191848 Kazanç Likely pathogenic Autism % 97.5
nssv3397231 16 29580020 30177999 Kayıp Pathogenic Specific learning disability % 97.4
nssv3396871 16 29580020 30177999 Kayıp Pathogenic Seizures % 97.4
nssv3397308 16 29580020 30177916 Kayıp Pathogenic Global developmental delay % 97.4
nssv13638934 16 29580020 30177916 Kayıp Pathogenic Abnormal facial shape;Delayed speech and language development;Intellectual disability;Seizures % 97.4
nssv13655636 16 29580020 30177240 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 97.4
nssv13639256 16 29580020 30177240 Kazanç Likely pathogenic Abnormal facial shape;Attention deficit hyperactivity disorder;Behavioral abnormality;Constipation;Dolichocephaly;Downslanted palpebral fissures;Oppositional defiant disorder;Premature birth;Specific learning disability % 97.4
nssv3395446 16 29567296 30191848 Kazanç Likely pathogenic Delayed fine motor development;Delayed gross motor development % 95.5
nssv3394965 16 29567295 30190029 Kayıp Pathogenic Delayed speech and language development;Gait disturbance;Impaired social interactions;Incoordination;Muscular hypotonia % 95.5
nssv13649593 16 29567295 30190029 Kayıp Pathogenic Abnormal vertebral morphology;Delayed fine motor development;Delayed gross motor development;Delayed speech and language development;Muscular hypotonia;Scoliosis % 95.5
nssv13639629 16 29567295 30190029 Kayıp Pathogenic Patent ductus arteriosus % 95.5
nssv13638874 16 29567295 30190029 Kayıp Pathogenic Global developmental delay % 95.5
nssv13653197 16 29567296 30178406 Kayıp Pathogenic Global developmental delay % 95.4
nssv3396991 16 29567295 30178406 Kayıp Pathogenic Abnormal facial shape;Delayed gross motor development;Delayed speech and language development;Intellectual disability;Macrocephaly;Muscular hypotonia;Obesity % 95.4
nssv3395419 16 29567295 30178406 Kayıp Pathogenic Conjugated hyperbilirubinemia;Corneal dystrophy;Growth delay;Increased intraocular pressure;Respiratory distress % 95.4
nssv3394948 16 29567295 30178406 Kayıp Pathogenic Intellectual disability % 95.4
nssv13649165 16 29567295 30178406 Kayıp Pathogenic Abnormality of the face % 95.4
nssv13638810 16 29567296 30177999 Kayıp Pathogenic Speech apraxia % 95.4
nssv3397382 16 29567295 30177999 Kayıp Pathogenic 2-3 toe syndactyly;Anxiety;Attention deficit hyperactivity disorder;Curly eyelashes;Delayed speech and language development;Low-set ears;Low-set, posteriorly rotated ears;Nasal speech;Short middle phalanx of finger;Synophrys;Velopharyngeal insufficiency % 95.4
nssv3397088 16 29567295 30177999 Kayıp Pathogenic Flexion contracture % 95.4
nssv3397059 16 29567295 30177999 Kayıp Pathogenic Arnold-Chiari type I malformation;Attention deficit hyperactivity disorder;Autistic behavior;Behavioral abnormality;Delayed fine motor development;Delayed gross motor development;Delayed speech and language development;Intellectual disability;Seizures % 95.4
nssv3395067 16 29567295 30177999 Kayıp Pathogenic Autistic behavior;Specific learning disability % 95.4
nssv13654165 16 29567295 30177999 Kayıp Pathogenic Cleft palate;Short stature % 95.4
nssv13651773 16 29567295 30177999 Kayıp Pathogenic Agenesis of corpus callosum;Failure to thrive;Periventricular leukomalacia;Ventriculomegaly % 95.4
nssv13649144 16 29567295 30177999 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 95.4
nssv13643138 16 29567295 30177999 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 95.4
nssv13642615 16 29567295 30177999 Kayıp Pathogenic Abnormal vertebral morphology;Cleft palate;Intrauterine growth retardation;Micrognathia;Premature birth % 95.4
nssv13641510 16 29567295 30177999 Kayıp Pathogenic Delayed fine motor development;Delayed gross motor development;Delayed speech and language development % 95.4
nssv13639488 16 29567295 30177999 Kayıp Pathogenic Sleep disturbance;Speech apraxia % 95.4
nssv13638792 16 29567295 30177999 Kayıp Pathogenic Intellectual disability;Seizures % 95.4
nssv13638590 16 29567295 30177999 Kayıp Pathogenic Delayed speech and language development;Global developmental delay % 95.4
nssv13638568 16 29567295 30177999 Kayıp Pathogenic Global developmental delay % 95.4
nssv13642861 16 29567296 30177916 Kayıp Pathogenic Global developmental delay % 95.4
nssv3396705 16 29567295 30177916 Kayıp Pathogenic Failure to thrive % 95.4
nssv3395287 16 29567295 30177916 Kayıp Pathogenic Behavioral abnormality;Intellectual disability % 95.4
nssv14082488 16 29567295 30177916 Kayıp Pathogenic Delayed speech and language development;Global developmental delay % 95.4
nssv14082202 16 29567295 30177916 Kayıp Pathogenic Abnormality of the face % 95.4
nssv14082160 16 29567295 30177916 Kayıp Pathogenic Global developmental delay;Long fingers % 95.4
nssv14082155 16 29567295 30177916 Kayıp Pathogenic Failure to thrive % 95.4
nssv13656080 16 29567295 30177916 Kayıp Pathogenic Delayed speech and language development;Specific learning disability % 95.4
nssv13654548 16 29567295 30177916 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 95.4
nssv13646414 16 29567295 30177916 Kayıp Pathogenic Global developmental delay % 95.4
nssv13646257 16 29567295 30177916 Kayıp Pathogenic Delayed speech and language development;Global developmental delay;Specific learning disability % 95.4
nssv13643778 16 29567295 30177916 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 95.4
nssv13642414 16 29567295 30177916 Kayıp Pathogenic Abnormal facial shape;Autism;Global developmental delay;Macrocephaly % 95.4
nssv13640367 16 29567295 30177916 Kayıp Pathogenic Failure to thrive;Short stature % 95.4
nssv13640363 16 29567295 30177916 Kayıp Pathogenic Abnormal facial shape;Overlapping toe % 95.4
nssv13640344 16 29567295 30177916 Kayıp Pathogenic Delayed speech and language development;Specific learning disability % 95.4
nssv13640056 16 29567295 30177916 Kayıp Pathogenic Abnormal facial shape;Delayed gross motor development;Delayed speech and language development % 95.4
nssv13639733 16 29567295 30177916 Kayıp Pathogenic Abnormal facial shape;Delayed speech and language development;Hypospadias;Specific learning disability % 95.4
nssv13639532 16 29567295 30177916 Kayıp Pathogenic Incoordination % 95.4
nssv13639498 16 29567295 30177916 Kayıp Pathogenic Abnormal facial shape;Carious teeth;Short stature % 95.4
nssv13638857 16 29567295 30177916 Kayıp Pathogenic Intellectual disability % 95.4
nssv13638852 16 29567295 30177916 Kayıp Pathogenic Abnormal facial shape;Cleft palate;Delayed fine motor development;Delayed gross motor development;Delayed speech and language development;Failure to thrive;Muscular hypotonia % 95.4
nssv13650466 16 29567296 30177807 Kayıp Pathogenic Cryptorchidism;Global developmental delay;Precocious puberty in males;Short stature;Specific learning disability % 95.4
nssv3397351 16 29567295 30177807 Kayıp Pathogenic Abnormal facial shape;Attention deficit hyperactivity disorder;Cryptorchidism;Delayed speech and language development;Intellectual disability;Seizures % 95.4
nssv13653519 16 29567295 30177807 Kayıp Pathogenic Abnormality of the face;Abnormality of the upper limb;Delayed gross motor development;Delayed speech and language development;Failure to thrive;Macrocephaly;Motor delay;Seizures % 95.4
nssv13641266 16 29567295 30177240 Kazanç Pathogenic Delayed gross motor development;Delayed speech and language development;Microcephaly;Motor delay;Seizures % 95.4
nssv13640389 16 29567295 30177240 Kayıp Pathogenic Congenital muscular dystrophy % 95.4
nssv13644382 16 29597822 30240227 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 93.7
nssv3396708 16 29591078 30240227 Kazanç Pathogenic Autistic behavior % 93.1
nssv3396770 16 29581100 30240227 Kazanç Likely pathogenic Delayed speech and language development % 91.7
nssv1610429 16 29567295 30226930 Kayıp Pathogenic Delayed speech and language development % 91.6
nssv3396928 16 29580020 30240227 Kazanç Likely pathogenic Abnormal heart morphology % 91.5
nssv13650930 16 29580020 30240227 Kazanç Likely pathogenic Autism;Global developmental delay % 91.5
nssv13638669 16 29656657 30250660 Kazanç Pathogenic Global developmental delay % 91.4
nssv13639621 16 29571474 30243606 Kazanç Likely pathogenic Behavioral abnormality;Hyperactivity;Impaired social interactions % 89.9
nssv13650921 16 29571473 30243606 Kazanç Likely pathogenic Short stature % 89.9
nssv13643999 16 29567295 30243606 Kayıp Pathogenic Seizures % 89.3
nssv3397309 16 29517698 30191848 Kazanç Likely pathogenic Global developmental delay % 88.5
nssv3395097 16 29517698 30191848 Kazanç Likely pathogenic Ataxia;Global developmental delay % 88.5
nssv3395009 16 29517698 30177240 Kazanç Likely pathogenic Global developmental delay;Seizures % 88.2
nssv13650027 16 29517698 30177240 Kazanç Likely pathogenic Seizures % 88.2
nssv3395051 16 29525152 30218112 Kayıp Uncertain significance Atrial septal defect % 87.2
nssv13638589 16 29591078 30302348 Kazanç Likely pathogenic Global developmental delay;Muscular hypotonia;Seizures % 85
nssv1608181 16 29478059 30197341 Kazanç Likely pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 83.7
nssv1602702 16 29478059 30197341 Kazanç Likely pathogenic Global developmental delay % 83.7
nssv1601973 16 29478059 30197341 Kazanç Likely pathogenic Failure to thrive % 83.7
nssv1495756 16 29478059 30197341 Kazanç Likely pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 83.7
nssv1495755 16 29478059 30197341 Kazanç Likely pathogenic Hip dysplasia;Short stature % 83.7
nssv1495751 16 29478059 30197341 Kazanç Likely pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 83.7
nssv1495749 16 29478059 30197341 Kazanç Likely pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 83.7
nssv1495746 16 29478059 30197341 Kazanç Likely pathogenic Intrauterine growth retardation % 83.7
nssv1495745 16 29478059 30197341 Kazanç Likely pathogenic Failure to thrive % 83.7
nssv1415363 16 29478059 30197341 Kazanç Likely pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 83.7
nssv575961 16 29478059 30190568 Kayıp Pathogenic Global developmental delay % 83.5
nssv1604386 16 29478059 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 83.5
nssv13643371 16 29517698 30243606 Kazanç Likely pathogenic Abnormal facial shape;Global developmental delay;Microcephaly % 83.2
nssv3397234 16 29580020 30306955 Kazanç Likely pathogenic Dysarthria;Global developmental delay % 83.1
nssv1602544 16 29592791 30332569 Kazanç Pathogenic Autistic behavior % 81.7
nssv584347 16 29592783 30332581 Kayıp Pathogenic Congenital cataract % 81.7
nssv582908 16 29592783 30332581 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 81.7
nssv582742 16 29592783 30332581 Kayıp Pathogenic Global developmental delay % 81.7
nssv582293 16 29592783 30332581 Kazanç Pathogenic Global developmental delay % 81.7
nssv575706 16 29592783 30332581 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 81.7
nssv575672 16 29592783 30332581 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 81.7
nssv575518 16 29592783 30332581 Kazanç Uncertain significance Autism % 81.7
nssv3396273 16 29592783 30332581 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 81.7
nssv3396270 16 29592783 30332581 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 81.7
nssv3395701 16 29592783 30332581 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 81.7
nssv1604363 16 29590554 30332014 Kayıp Pathogenic Failure to thrive;Thrombocytopenia % 81.5
nssv1603615 16 29590554 30332014 Kazanç Likely pathogenic Depressed nasal bridge;Epicanthus;Headache;Hypertelorism;Microcephaly;Webbed neck % 81.5
nssv1602969 16 29620689 30332014 Kazanç Likely pathogenic Hypospadias;Intrauterine growth retardation;Oligohydramnios % 81.4
nssv1604368 16 29656684 30332591 Kazanç Likely pathogenic Short stature % 80.3
nssv1415293 16 29656684 30332591 Kazanç Likely pathogenic Autism;Delayed speech and language development % 80.3
nssv1609700 16 29567295 30320307 Kayıp Pathogenic Attention deficit hyperactivity disorder;Delayed speech and language development;Intellectual disability;Seizures % 80.2
nssv3397157 16 29567295 30321320 Kazanç Pathogenic Attention deficit hyperactivity disorder;Autistic behavior % 80.1
nssv3396772 16 29567295 30321320 Kayıp Pathogenic Global developmental delay % 80.1
nssv706634 16 29673967 30332569 Kazanç Pathogenic Abnormality of the nervous system % 79.8
nssv707174 16 29673954 30332581 Kayıp Pathogenic Abnormality of head or neck;Facial hemangioma % 79.8
nssv575862 16 29673954 30332581 Kazanç Pathogenic Seizures % 79.8
nssv1608200 16 29439269 30197341 Kayıp Pathogenic Delayed speech and language development % 79.4
nssv1610273 16 29432212 30177916 Kayıp Pathogenic Autistic behavior % 78.1
nssv13643789 16 29432212 30177240 Kazanç Pathogenic Delayed gross motor development;Delayed speech and language development;Muscular hypotonia;Seizures % 78.1
nssv13655164 16 29432212 30226930 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 76
nssv14082013 16 29421694 30240227 Kazanç Likely pathogenic Seizures % 73.8
nssv13638786 16 29421694 30240227 Kazanç Likely pathogenic Respiratory distress % 73.8
nssv13640190 16 29421662 30240227 Kazanç Likely pathogenic Autism;Global developmental delay % 73.8
nssv13647309 16 29447842 30289652 Kazanç Pathogenic Global developmental delay % 71.8
nssv13640649 16 29447842 30289652 Kazanç Pathogenic Global developmental delay % 71.8
nssv13646703 16 29351826 30191848 Kayıp Pathogenic Abnormality of the face;Delayed gross motor development;Delayed speech and language development;Motor delay % 71
nssv3396647 16 29478059 30332014 Kazanç Likely pathogenic Seizures % 70.8
nssv1610141 16 29478059 30332014 Kazanç Likely pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 70.8
nssv1603403 16 29478059 30332014 Kazanç Likely pathogenic Global developmental delay % 70.8
nssv1415389 16 29478059 30332014 Kazanç Likely pathogenic Epicanthus;Lower limb asymmetry % 70.8
nssv1602785 16 29478060 30332569 Kazanç Pathogenic Global developmental delay % 70.7
nssv706925 16 29329436 30190593 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 69.1
nssv1415538 16 29439269 30332014 Kazanç Likely pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 67.7
nssv13654415 16 29432212 30332125 Kazanç Pathogenic Failure to thrive;Microcephaly;Short stature % 67.1
nssv13646080 16 29421694 30344958 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 65.4
nssv706372 16 29238593 30190568 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 62.5
nssv583173 16 29238593 30190568 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 62.5
nssv583172 16 29238593 30190568 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 62.5
nssv583120 16 29238593 30190568 Kazanç Uncertain significance Hearing impairment;Scoliosis % 62.5
nssv582992 16 29238593 30190568 Kayıp Pathogenic Encephalopathy;Precocious puberty % 62.5
nssv576305 16 29238593 30190568 Kazanç Pathogenic Abnormality of the foot % 62.5
nssv1601550 16 29329436 30332569 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 60.2
nssv582778 16 29182141 30190568 Kazanç Likely pathogenic Muscular hypotonia;Seizures % 59
nssv582587 16 29182141 30190568 Kazanç Uncertain significance Developmental delay AND/OR other significant developmental or morphological phenotypes % 59
nssv3396767 16 29904258 30444445 Kazanç Likely benign Failure to thrive;Micrognathia % 54.7
nssv706297 16 29592783 30703233 Kayıp Pathogenic Generalized hypotonia % 54.4
nssv13650754 16 29060171 30197290 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 52.9
nssv13646788 16 28503824 30190593 Kayıp Pathogenic Global developmental delay % 35.3
nssv582645 16 28503803 30190568 Kayıp Pathogenic Delayed speech and language development;Obesity % 35.3
nssv582447 16 28503803 30190568 Kazanç Pathogenic Global developmental delay % 35.3
nssv13642896 16 28486693 30197290 Kayıp Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 35.2
nssv1495004 16 28404153 30197341 Kayıp Pathogenic Delayed speech and language development;Generalized hypotonia;Global developmental delay % 33.6
nssv1415482 16 28404153 30197341 Kayıp Pathogenic Intestinal obstruction % 33.6
nssv13638603 16 28441538 30178406 Kayıp Pathogenic Autistic behavior % 33.6
nssv13640468 16 28404177 30190593 Kayıp Pathogenic Global developmental delay % 33.3
nssv1608905 16 28404153 30332014 Kayıp Pathogenic Seizures % 31.3
nssv585233 16 29920934 31450018 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 18.2
nssv1609526 16 27323067 31204727 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 15.6
nssv1608724 16 23763368 31955076 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 7.4
nssv13638839 16 21596299 30399167 Kayıp Pathogenic Abnormal facial shape % 6.9
nssv13639907 16 24406741 33853445 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 6.4
nssv13643914 16 29060171 29624872 Kazanç Benign Developmental delay AND/OR other significant developmental or morphological phenotypes % 5.2
nssv13653069 16 19424115 30142220 Kazanç Pathogenic Developmental delay AND/OR other significant developmental or morphological phenotypes % 5.1
nssv13641929 16 18238275 30177240 Kazanç Pathogenic Abnormal facial shape;Intellectual disability;Short stature % 4.9


Postnatal örneklerde gerçekleştirilen rutin klinik sitogenetik çalışmalar kapsamında tespit edilen kopya sayısı değişimleri ve örneklerdeki fenotip özellikleri listelenmiştir. Kapsama oranı %1’den daha küçük olan bölgeler liste dışında bırakılmıştır. Çalışma ve derleme Kaminsky, et al. 2011 tarafından gerçekleştirilmiştir. Veritabanı detayları nstd37 kodlu dbVar çalışmasından elde edilmiştir.
Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., … Martin, C. L. (2011). An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genetics in Medicine, 13(9), 777–784.




Metot

Teslim alınan DNA örnekleri illumina 656K mikroarray çipi ile çalışılmış ve “illumina iScan” platformunda taraması yapılmıştır. Bu yöntem ile örneğin tüm genomu boyunca yaklaşık 665.000 tek nükleotid polimorfizminin (SNP) genotiplendirmesi yapılmaktadır. illumina mikroarray çip problarının medyan aralığı 2.53 kb’dır. CNV (Copy Number Variation) analizi, tüm genom SNP verisinden BAF ve LRR değerleri dikkate alınarak hesaplanmıştır. Kopya sayısı varyasyonları Illumina’nın sağladığı GenomeStudio (v.2.0.4) ve cnvPartition (v.3.2.0) analiz programları aracılığıyla tespit edilmekte ve görselleştirilmektedir. İlgili pozisyonlar Human Genome Build 37 referans alınarak raporlanmıştır.

  • BAF (B Allel Frekansı): İlgili SNP için B alleli sinyalinin toplam sinyal miktarına oranını gösterir. 0 ve 1 değerleri homozigotluğu, 0.5 değeri heterozigotluğu gösterir.
  • LRR (Log R Ratio): Belirtilen SNP için ortalama sinyal miktarının logaritmik ifadesidir. Kopya sayısı hakkında bilgi verir. 0 değeri 2 kopya sayısını, pozitif değerler artmış, negatif değerler ise azalmış kopya sayısını işaret eder.




Uyarılar

  • Bu araştırmada kullanılan yöntem, ürün ve yazılımlar illumina Inc. (San Diego, USA) tarafından geliştirilmiştir. Araştırma sonuçları sadece bilgilendirme amaçlıdır.
  • Kullanılan analiz programlarında, Confidence Threshold değeri 50 olarak belirlenmiştir. Ve GC wave düzeltmesi yapılmıştır. Kayıp ve kazanç bölgelerini tespit etmek için gerekli minimum probe sayısı 8 olarak belirlenmiştir. Confidence Threshold değeri 50 ve en az 8 probeüzeri olan kazanç ve kayıp bölgeleri raporlanmaktadır.
  • Kullanılan analiz programlarında 1 Mb üstü CNLOH bölgeleri raporlanmaktadır.


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