Chrom,Start,Stop,dbVar_ID,Phenotype,Source
chr3,195701162,197324783,nssv1494853,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000177943
chr3,195703615,197356334,nssv3397344,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000183394
chr3,195740357,197317103,nssv580093,Apnea,ClinVar:SCV000190827
chr3,195740357,197317103,nssv580094,Coarctation of aorta,ClinVar:SCV000190827
chr3,195740357,197317103,nssv580095,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000195539
chr3,195740357,197317103,nssv580096,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000195539
chr3,195740357,197317103,nssv580098,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000190826
chr3,195740357,197324783,nssv1604938,Autistic behavior,Delayed speech and language development,Specific learning disability,ClinVar:SCV000180213
chr3,195740357,197339270,nssv1608554,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000181870
chr3,195740402,197317103,nssv1601953,Autism,ClinVar:SCV000178932
chr3,195740402,197317103,nssv1604878,Global developmental delay,ClinVar:SCV000178932
chr3,195756054,197344665,nssv1184576,3q29 microdeletion syndrome,OMIM:609425,PubMed:15918153
chr3,195762648,197352444,nssv580100,Abnormality of cardiac morphology,Global developmental delay,ClinVar:SCV000080470
chr3,195762648,197385411,nssv580099,Abnormality of the sternum,Global developmental delay,Microcephaly,ClinVar:SCV000080469
chr3,195804728,197420612,nssv580102,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000080481
chr5,175416095,177436413,nssv3395501,Global developmental delay,Hypertonia,Involuntary movements,Macrocephaly,ClinVar:SCV000183720
chr5,175470479,177422760,nssv580104,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000080483
chr7,5101631,6731889,nssv578167,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000079605
chr15,30730513,32861626,nssv579733,Developmental delay AND/OR other significant developmental or morphological phenotypes,Fever,Muscular hypotonia,Seizure,ClinVar:SCV000077685
chr15,30819464,32899558,nssv1605692,Developmental delay AND/OR other significant developmental or morphological phenotypes,NA
chr15,30906554,32898667,nssv579746,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000079808
chr15,30921917,32914199,nssv1494990,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000178522
chr15,30954724,32861612,nssv1603966,Autism,Global developmental delay,ClinVar:SCV000179859
chr15,30954726,32899558,nssv579751,Abnormality of the nervous system,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000077939
chr15,31042916,32899558,nssv582297,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000175154
chr16,15404252,18307006,nssv579787,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000079866
chr16,15404451,18631982,nssv1606159,Hypoplastic heart,NA
chr16,15404452,18306854,nssv706304,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000175263
chr16,15492307,18366738,nssv1495754,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000181492
chr16,15492307,18366738,nssv1610190,Abnormal facial shape,Global developmental delay,ClinVar:SCV000181492
chr16,15551062,18306841,nssv1602079,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000179239
chr17,14083054,15475087,nssv3395309,Global developmental delay,ClinVar:SCV000183563
chr17,14085624,15484859,nssv1606045,Developmental delay AND/OR other significant developmental or morphological phenotypes,NA
chr17,14087787,15490100,nssv1610477,Autistic behavior,Broad-based gait,Constipation,Delayed fine motor development,Delayed gross motor development,Delayed speech and language development,Failure to thrive,Gastroesophageal reflux,Muscular hypotonia,Obsessive-compulsive behavior,Specific learning disability,ClinVar:SCV000181767
chr17,14087933,15484858,nssv3396965,Autism,Global developmental delay,ClinVar:SCV000182657
chr17,14087933,15491532,nssv3396850,Global developmental delay,ClinVar:SCV000182708
chr17,14097914,15422955,nssv1184549,Hereditary liability to pressure palsies,OMIM:162500
chr17,14111572,15442207,nssv579872,Autism,ClinVar:SCV000081692
chr17,14111772,15442066,nssv575772,Nonimmune hydrops fetalis,ClinVar:SCV000196306
chr17,14111772,15442066,nssv575907,Global developmental delay,ClinVar:SCV000196306
chr17,14111772,15442066,nssv579873,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000078127
chr17,14111772,15442066,nssv579874,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000078127
chr17,14111772,15442066,nssv582248,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000196307
chr17,14111772,15442066,nssv583261,Anal atresia,ClinVar:SCV000196305
chr17,14111772,15442066,nssv706226,Craniosynostosis,ClinVar:SCV000196305
chr17,14111772,15442066,nssv706285,Developmental delay AND/OR other significant developmental or morphological phenotypes,Macrocephaly,ClinVar:SCV000196305
chr17,14111772,15442069,nssv1495036,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000177869
chr17,14111772,15482872,nssv1415427,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000178768
chr17,14111772,15491748,nssv582183,Encephalopathy,ClinVar:SCV000176956
chr22,21798104,23739485,nssv580073,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000080430
chr22,21808950,23756873,nssv584439,Global developmental delay,ClinVar:SCV000175675
chr22,51113070,51171641,nssv3442673,22q13.3 deletion syndrome,ClinGen:SHANK3,GENE:85358,GeneReviews:NBK1116,OMIM:606230,PubMed:10414979,PubMed:10527873,PubMed:10806096,PubMed:11258795,PubMed:11431708,PubMed:11509555,PubMed:12477932,PubMed:12504591,PubMed:12626503,PubMed:12920066,PubMed:14702039,PubMed:16284256,PubMed:16637659,PubMed:17173049,PubMed:17474147,PubMed:17999366,PubMed:18505557,PubMed:18615476,PubMed:19077115,PubMed:19371741,PubMed:19384346,PubMed:19454329,PubMed:19566951,PubMed:19736351,PubMed:20080650,PubMed:20385823,PubMed:20442744,PubMed:21271662,PubMed:21779178
chr22,51116107,51178264,nssv577878,Developmental delay AND/OR other significant developmental or morphological phenotypes,ClinVar:SCV000078793