---
source: src/regions/cli/query.rs
expression: "&out_data"
---
{"iscaId":"ISCA-37390","iscaRegionName":"5p15 terminal (Cri du chat syndrome) region","genomicLocation":"chr5:37693-11347262","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0007404"}
{"iscaId":"ISCA-37392","iscaRegionName":"7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN)","genomicLocation":"chr7:72744455-74142510","haploinsufficiencyDiseaseId":"MONDO:0008678","triplosensitivityDiseaseId":"MONDO:0012342"}
{"iscaId":"ISCA-37393","iscaRegionName":"22q11.21 recurrent (Cat eye syndrome) region (includes CECR2)","genomicLocation":"chr22:17392953-18591860","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityDiseaseId":"MONDO:0007276"}
{"iscaId":"ISCA-37394","iscaRegionName":"2q37.3 terminal region (includes HDAC4)","genomicLocation":"chr2:239954693-242930600","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","haploinsufficiencyDiseaseId":"MONDO:0010886"}
{"iscaId":"ISCA-37396","iscaRegionName":"15q24 recurrent region (LCR A-LCR D) (includes SIN3A)","genomicLocation":"chr15:72963715-75972909","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0013672"}
{"iscaId":"ISCA-37397","iscaRegionName":"22q11.2 recurrent region (distal type I, D-E/F)","genomicLocation":"chr22:21917117-23649111","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0012740"}
{"iscaId":"ISCA-37400","iscaRegionName":"16p11.2 recurrent region (proximal, BP4-BP5) (includes TBX6)","genomicLocation":"chr16:29649997-30199852","haploinsufficiencyDiseaseId":"MONDO:0012756","triplosensitivityDiseaseId":"MONDO:0013847"}
{"iscaId":"ISCA-37401","iscaRegionName":"11p13 (WAGR syndrome) region","genomicLocation":"chr11:31803509-32510988","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0008681"}
{"iscaId":"ISCA-37404","iscaRegionName":"15q11.2q13 recurrent (PWS/AS) region (Class 1, BP1-BP3)","genomicLocation":"chr15:22832519-28379874","haploinsufficiencyDiseaseId":"MONDO:0008300","triplosensitivityDiseaseId":"MONDO:0012081"}
{"iscaId":"ISCA-37405","iscaRegionName":"2q13 recurrent region (includes NPHP1)","genomicLocation":"chr2:110862108-110983703","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_NO_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-37406","iscaRegionName":"16p13.3 region (includes CREBBP)","genomicLocation":"chr16:3775056-3930121","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0012519"}
{"iscaId":"ISCA-37408","iscaRegionName":"2p15p16.1 region (includes BCL11A)","genomicLocation":"chr2:59139200-62488871","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0012916"}
{"iscaId":"ISCA-37409","iscaRegionName":"16p12.2 recurrent region (proximal) (includes EEF2K, CDR2)","genomicLocation":"chr16:21948445-22430804","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-37411","iscaRegionName":"15q13.3 recurrent region (BP4-BP5) (includes CHRNA7)","genomicLocation":"chr15:31192889-32445405","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0012774"}
{"iscaId":"ISCA-37415","iscaRegionName":"16p13.11 recurrent region (BP2-BP3) (includes MYH11)","genomicLocation":"chr16:15511711-16292265","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE"}
{"iscaId":"ISCA-37417","iscaRegionName":"Xp22.31 recurrent region (includes STS)","genomicLocation":"chrX:6455812-8124954","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","haploinsufficiencyDiseaseId":"MONDO:0010622"}
{"iscaId":"ISCA-37418","iscaRegionName":"17p11.2 recurrent (SMS/PLS) region (includes RAI1)","genomicLocation":"chr17:16810028-20213202","haploinsufficiencyDiseaseId":"MONDO:0008434","triplosensitivityDiseaseId":"MONDO:0012574"}
{"iscaId":"ISCA-37420","iscaRegionName":"17q21.3 recurrent region (includes KANSL1)","genomicLocation":"chr17:43705166-44164880","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0012496"}
{"iscaId":"ISCA-37421","iscaRegionName":"1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5)","genomicLocation":"chr1:146577486-147394506","haploinsufficiencyDiseaseId":"MONDO:0012914","triplosensitivityDiseaseId":"MONDO:0012915"}
{"iscaId":"ISCA-37423","iscaRegionName":"8p23.1 recurrent region (includes GATA4)","genomicLocation":"chr8:8100064-11766329","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE"}
{"iscaId":"ISCA-37424","iscaRegionName":"10q22.3q23.2 recurrent region (includes BMPR1A)","genomicLocation":"chr10:81682843-88739388","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE"}
{"iscaId":"ISCA-37425","iscaRegionName":"5q35 recurrent (Sotos syndrome) region (includes NSD1)","genomicLocation":"chr5:175728979-177047793","haploinsufficiencyDiseaseId":"MONDO:0019349"}
{"iscaId":"ISCA-37428","iscaRegionName":"1q21.1 recurrent (TAR syndrome) region (proximal, BP2-BP3) (includes RBM8A)","genomicLocation":"chr1:145386507-145748064","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0010121"}
{"iscaId":"ISCA-37429","iscaRegionName":"4p16.3 terminal (Wolf-Hirschhorn syndrome) region","genomicLocation":"chr4:331568-2010962","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0008684"}
{"iscaId":"ISCA-37430","iscaRegionName":"17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1)","genomicLocation":"chr17:1247833-2588909","haploinsufficiencyDiseaseId":"MONDO:0009532","triplosensitivityDiseaseId":"MONDO:0013182"}
{"iscaId":"ISCA-37431","iscaRegionName":"17q11.2 recurrent region (includes NF1)","genomicLocation":"chr17:29097069-30264027","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0013357","triplosensitivityDiseaseId":"MONDO:0030032"}
{"iscaId":"ISCA-37432","iscaRegionName":"17q12 recurrent (RCAD syndrome) region (includes HNF1B)","genomicLocation":"chr17:34815072-36192489","haploinsufficiencyDiseaseId":"MONDO:0013797","triplosensitivityDiseaseId":"MONDO:0013796"}
{"iscaId":"ISCA-37433","iscaRegionName":"22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1)","genomicLocation":"chr22:18912231-20287208","haploinsufficiencyDiseaseId":"MONDO:0008564","triplosensitivityDiseaseId":"MONDO:0012020"}
{"iscaId":"ISCA-37434","iscaRegionName":"1p36 terminal region (includes GABRD)","genomicLocation":"chr1:834083-6289973","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0011929"}
{"iscaId":"ISCA-37436","iscaRegionName":"17p12 recurrent (HNPP/CMT1A) region (includes PMP22)","genomicLocation":"chr17:14097915-15422952","haploinsufficiencyDiseaseId":"MONDO:0008087","triplosensitivityDiseaseId":"MONDO:0007309"}
{"iscaId":"ISCA-37438","iscaRegionName":"14q11.2 region including CHD8 and SUPT16H","genomicLocation":"chr14:21826900-21861987","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-37439","iscaRegionName":"Xq28 recurrent region (includes GDI1)","genomicLocation":"chrX:153624564-153783898","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityDiseaseId":"MONDO:0010436"}
{"iscaId":"ISCA-37440","iscaRegionName":"2p21 region (includes PREPL and SLC3A1)","genomicLocation":"chr2:44410272-44589641","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_NO_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","haploinsufficiencyDiseaseId":"MONDO:0011669"}
{"iscaId":"ISCA-37441","iscaRegionName":"11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2)","genomicLocation":"chr11:43894800-46152450","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","haploinsufficiencyDiseaseId":"MONDO:0011022"}
{"iscaId":"ISCA-37442","iscaRegionName":"6q24 region (includes PLAGL1)","genomicLocation":"chr6:144243292-144416561","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","triplosensitivityDiseaseId":"MONDO:0011073"}
{"iscaId":"ISCA-37443","iscaRegionName":"3q29 recurrent region (includes DLG1)","genomicLocation":"chr3:195756054-197344662","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0012269","triplosensitivityDiseaseId":"MONDO:0012761"}
{"iscaId":"ISCA-37446","iscaRegionName":"22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1)","genomicLocation":"chr22:18912231-21465672","haploinsufficiencyDiseaseId":"MONDO:0008564","triplosensitivityDiseaseId":"MONDO:0012020"}
{"iscaId":"ISCA-37448","iscaRegionName":"15q11.2 recurrent region (BP1-BP2) (includes NIPA1)","genomicLocation":"chr15:22832519-23090897","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-37449","iscaRegionName":"14q32 region associated with UPD(14) phenotypes","genomicLocation":"chr14:100394594-101504529","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","haploinsufficiencyDiseaseId":"MONDO:0011975"}
{"iscaId":"ISCA-37467","iscaRegionName":"7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5)","genomicLocation":"chr7:156583796-156584568","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityDiseaseId":"MONDO:0008270"}
{"iscaId":"ISCA-37468","iscaRegionName":"Xp11.23 region (includes MAOA and MAOB)","genomicLocation":"chrX:43514154-43741720","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-37469","iscaRegionName":"1q21.2 region (polymorphic region)(non-unique; also maps to chromosomes 16, 7, and others in GRCh38)","genomicLocation":"chr1:148867551-149768855","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-37470","iscaRegionName":"1 copy: 2q telomere|3 copies: 2q telomere","genomicLocation":"chr2:242930600-243102476","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-37471","iscaRegionName":"1 copy: 6p telomere | 3 copies: 6p telomere","genomicLocation":"chr6:259528-339802","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-37472","iscaRegionName":"8p23.1 region (DEFB gene cluster)","genomicLocation":"chr8:7053186-8130689","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-37476","iscaRegionName":"14q11.2 region (TCRA region)","genomicLocation":"chr14:22111109-23021097","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-37477","iscaRegionName":"1 copy: 14q telomere; 3 copies: 14q telomere","genomicLocation":"chr14:106050000-107289540","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-37478","iscaRegionName":"15q11.2q13 recurrent (PWS/AS) region (Class 2,BP2-BP3)","genomicLocation":"chr15:23747996-28379874","haploinsufficiencyDiseaseId":"MONDO:0008300","triplosensitivityDiseaseId":"MONDO:0012081"}
{"iscaId":"ISCA-37480","iscaRegionName":"3 copies: 15q telomere","genomicLocation":"chr15:102161480-102521392","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-37481","iscaRegionName":"3 copies: 16p centromere","genomicLocation":"chr16:34202088-35147508","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-37483","iscaRegionName":"19q13.3 region (PSG gene cluster)","genomicLocation":"chr19:43242796-43741310","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-37486","iscaRegionName":"16p11.2 recurrent region (distal, BP2-BP3) (includes SH2B1)","genomicLocation":"chr16:28822635-29046499","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0013267"}
{"iscaId":"ISCA-37488","iscaRegionName":"22q11.2 recurrent region (distal type II, E-F)","genomicLocation":"chr22:23119414-23649111","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE"}
{"iscaId":"ISCA-37493","iscaRegionName":"1q43q44 terminal region (includes AKT3)","genomicLocation":"chr1:243287730-245318287","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","haploinsufficiencyDiseaseId":"MONDO:0012869"}
{"iscaId":"ISCA-37494","iscaRegionName":"Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B)","genomicLocation":"chrX:154118603-154564401","triplosensitivityDiseaseId":"MONDO:0010436"}
{"iscaId":"ISCA-37495","iscaRegionName":"2q11.2 recurrent region (includes ARID5A, TMEM127)","genomicLocation":"chr2:96739012-97671429","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE"}
{"iscaId":"ISCA-37496","iscaRegionName":"2q13 recurrent region (includes BCL2L11)","genomicLocation":"chr2:111392193-113104742","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE"}
{"iscaId":"ISCA-37497","iscaRegionName":"10q11.2 recurrent region (LCR C-LCR D)","genomicLocation":"chr10:49389703-51053583","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE"}
{"iscaId":"ISCA-37498","iscaRegionName":"11q13.2q13.4 recurrent region (includes SHANK2, FGFs)","genomicLocation":"chr11:67763646-71236931","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-37500","iscaRegionName":"15q25.2 recurrent region (proximal LCR B-LCR C)","genomicLocation":"chr15:83213988-84714733","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","haploinsufficiencyDiseaseId":"MONDO:0013672"}
{"iscaId":"ISCA-37501","iscaRegionName":"17q23.1q23.2 recurrent region (includes TBX2, TBX4)","genomicLocation":"chr17:58113002-60275809","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0013238"}
{"iscaId":"ISCA-37514","iscaRegionName":"15q25.2q25.3 recurrent region (distal, LCR C-LCR D)","genomicLocation":"chr15:85139652-85713001","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-37516","iscaRegionName":"22q11.2 recurrent region (central, B/C-D) (includes CRKL)","genomicLocation":"chr22:20731986-21465672","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46285","iscaRegionName":"15q13 recurrent region (BP3-BP4) (includes APBA2)","genomicLocation":"chr15:29156959-30368990","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46287","iscaRegionName":"2p24.3 MYCN-DDX1 duplication region","genomicLocation":"chr2:15708677-16185337","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","triplosensitivityDiseaseId":"MONDO:0005072"}
{"iscaId":"ISCA-46288","iscaRegionName":"2q21.1 recurrent region (includes ARHGEF4, GPR148)","genomicLocation":"chr2:131477509-131929693","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46290","iscaRegionName":"Xp11.22p11.23 recurrent region (includes SHROOM4)","genomicLocation":"chrX:48306152-52103258","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityDiseaseId":"MONDO:0010428"}
{"iscaId":"ISCA-46291","iscaRegionName":"7q11.23 recurrent distal region (includes HIP1, YWHAG)","genomicLocation":"chr7:75158048-76063176","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE"}
{"iscaId":"ISCA-46292","iscaRegionName":"22q11.2 recurrent region (distal type III, D-G/H) (includes SMARCB1)","genomicLocation":"chr22:21917117-24994433","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","haploinsufficiencyDiseaseId":"MONDO:0012252"}
{"iscaId":"ISCA-46294","iscaRegionName":"22q11.2 recurrent region (distal type III, F-G) (includes SMARCB1)","genomicLocation":"chr22:23831202-24632821","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46295","iscaRegionName":"15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7, OTUD7A)","genomicLocation":"chr15:32019621-32445405","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","haploinsufficiencyDiseaseId":"MONDO:0100038"}
{"iscaId":"ISCA-46296","iscaRegionName":"15q24 recurrent region (LCR A-LCR C)","genomicLocation":"chr15:72963715-75508312","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE"}
{"iscaId":"ISCA-46297","iscaRegionName":"16p12.2 recurrent region (distal)(includes OTOA)","genomicLocation":"chr16:21570113-21740423","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_NO_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","haploinsufficiencyDiseaseId":"MONDO:0011762"}
{"iscaId":"ISCA-46298","iscaRegionName":"13q12.12 recurrent region (includes SACS, SGCG)","genomicLocation":"chr13:23544582-24881361","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-46299","iscaRegionName":"Xp11.22 region (includes HUWE1)","genomicLocation":"chrX:53363456-53793054","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityDiseaseId":"MONDO:0020119"}
{"iscaId":"ISCA-46300","iscaRegionName":"15q24 recurrent region (LCR C-LCR D) (includes SIN3A)","genomicLocation":"chr15:75631787-75972909","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","haploinsufficiencyDiseaseId":"MONDO:0013256"}
{"iscaId":"ISCA-46302","iscaRegionName":"Xp21.2 region (includes NR0B1)","genomicLocation":"chrX:30195000-30355000","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityDiseaseId":"MONDO:0010226"}
{"iscaId":"ISCA-46303","iscaRegionName":"SOX9 upstream enhancer region","genomicLocation":"chr17:67892996-69792434","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE","haploinsufficiencyDiseaseId":"MONDO:0007134","triplosensitivityDiseaseId":"MONDO:0009869"}
{"iscaId":"ISCA-46304","iscaRegionName":"Xq28 region (includes MECP2)","genomicLocation":"chrX:153273980-153375749","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityDiseaseId":"MONDO:0010283"}
{"iscaId":"ISCA-46306","iscaRegionName":"1p36.33 population region (gnomAD-SV_v2.1_DEL_1_11)","genomicLocation":"chr1:363999-401750","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46307","iscaRegionName":"1p36.33 population region (gnomAD-SV_v2.1_DEL_1_195)","genomicLocation":"chr1:1640999-1647000","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46308","iscaRegionName":"1p36.21 population region (gnomAD-SV_v2.1_DUP_1_507)","genomicLocation":"chr1:12894999-12940000","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-46309","iscaRegionName":"1p36.21 population region (gnomAD-SV_v2.1_DEL_1_1085)","genomicLocation":"chr1:12896424-12930275","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46310","iscaRegionName":"1p36.21 population region (gnomAD-SV_v2.1_DEL_1_1089)","genomicLocation":"chr1:12949999-12966000","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
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{"iscaId":"ISCA-46531","iscaRegionName":"22q11.21 population region (gnomAD-SV_v2.1_DEL_22_181452)","genomicLocation":"chr22:20451599-20457600","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46532","iscaRegionName":"22q11.21 population region (gnomAD-SV_v2.1_DEL_22_181459)","genomicLocation":"chr22:20693999-20699000","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46533","iscaRegionName":"22q11.21 population region (gnomAD-SV_v2.1_DEL_22_181532)","genomicLocation":"chr22:21562199-21569400","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
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{"iscaId":"ISCA-46542","iscaRegionName":"Xp11.23 population region (gnomAD-SV_v2.1_DUP_X_53155)","genomicLocation":"chrX:49328999-49343400","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
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{"iscaId":"ISCA-46545","iscaRegionName":"Xq24 population region (gnomAD-SV_v2.1_DEL_X_189263)","genomicLocation":"chrX:120077116-120120000","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
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{"iscaId":"ISCA-46553","iscaRegionName":"3q24 Region (includes ZIC1)","genomicLocation":"chr3:136403035-148341113","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","haploinsufficiencyDiseaseId":"MONDO:0000508"}
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{"iscaId":"ISCA-46583","iscaRegionName":"2p11.2 population region (DGV_Gold_Standard_June_2021_gssvL64514)","genomicLocation":"chr2:90160287-90163570","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
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{"iscaId":"ISCA-46586","iscaRegionName":"3q11.2 population region (DGV_Gold_Standard_June_2021_gssvL83303)","genomicLocation":"chr3:97878295-97923426","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46587","iscaRegionName":"3q11.2 population region (DGV_Gold_Standard_June_2021_gssvL83307)","genomicLocation":"chr3:97887492-97919334","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46588","iscaRegionName":"3q25.31 population region (DGV_Gold_Standard_June_2021_gssvL85294)","genomicLocation":"chr3:155478166-155498646","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46589","iscaRegionName":"3q29 population region (DGV_Gold_Standard_June_2021_gssvL86947)","genomicLocation":"chr3:195380278-195469564","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
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{"iscaId":"ISCA-46591","iscaRegionName":"3p12.3 population region (DGV_Gold_Standard_June_2021_gssvL82434)","genomicLocation":"chr3:75567345-75581692","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46592","iscaRegionName":"3q29 population region (DGV_Gold_Standard_June_2021_gssvG26791)","genomicLocation":"chr3:195376588-195493533","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-46593","iscaRegionName":"4q13.3 population region (DGV_Gold_Standard_June_2021_gssvL91223)","genomicLocation":"chr4:75282628-75323181","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46594","iscaRegionName":"4q13.2 population region (DGV_Gold_Standard_June_2021_gssvL90978)","genomicLocation":"chr4:70134832-70270391","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46595","iscaRegionName":"4p11 population region (DGV_Gold_Standard_June_2021_gssvL90109)","genomicLocation":"chr4:49177189-49249875","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46596","iscaRegionName":"4p16.1 population region (DGV_Gold_Standard_June_2021_gssvL88361)","genomicLocation":"chr4:9486907-9516088","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46597","iscaRegionName":"4p16.1 population region (DGV_Gold_Standard_June_2021_gssvG27165)","genomicLocation":"chr4:9417997-9457368","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-46598","iscaRegionName":"4p11 population region (DGV_Gold_Standard_June_2021_gssvG27527)","genomicLocation":"chr4:49489242-49524812","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE"}
{"iscaId":"ISCA-46599","iscaRegionName":"5q31.3 population region (DGV_Gold_Standard_June_2021_gssvL102648)","genomicLocation":"chr5:140096767-140104053","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46600","iscaRegionName":"5q35.3 population region (DGV_Gold_Standard_June_2021_gssvL104164)","genomicLocation":"chr5:178348352-178353194","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
{"iscaId":"ISCA-46601","iscaRegionName":"5q35.3 population region (DGV_Gold_Standard_June_2021_gssvL104429)","genomicLocation":"chr5:180591001-180596624","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_RECESSIVE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE"}
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{"iscaId":"ISCA-46741","iscaRegionName":"9p24.3 Region (includes DMRT1)","genomicLocation":"chr9:1-1982069","haploinsufficiencyScore":"CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE","triplosensitivityScore":"CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE","haploinsufficiencyDiseaseId":"MONDO:0002145"}
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{"iscaId":"ISCA-46743","iscaRegionName":"Xq25 region (includes STAG2)","genomicLocation":"chrX:123034319-123236519","triplosensitivityDiseaseId":"MONDO:0100038"}
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