FAM230G (family with sequence similarity 230 member G) - Chinchilla Research Resource Database

Gene: FAM230G (family with sequence similarity 230 member G) Homo sapiens

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Symbol:

FAM230G

Name:

family with sequence similarity 230 member G

Description:

ASSOCIATED WITH autistic disorder; schizophrenia; INTERACTS WITH aflatoxin B2

Type:

ncrna

RefSeq Status:

VALIDATED

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	20,340,997 - 20,352,494 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	22	20,712,118 - 20,715,518 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	22	q11.21	NCBI
CHM1_1	22	20,328,282 - 20,339,781 (+)	NCBI		CHM1_1

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Model

Annotation (Toggle Annotation Detail/Summary View)

Disease Annotations

Gene-Chemical Interaction Annotations

References - uncurated

Genomics

Expression

Sequence

Nucleotide Sequences

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	copy number loss	See cases [RCV000141704]	Chr22:18339130..21111370 [GRCh38] Chr22:18916828..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20686726)x1	copy number loss	See cases [RCV000141972]	Chr22:18339130..20686726 [GRCh38] Chr22:18916828..21041014 [GRCh37] Chr22:17296828..19371014 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	copy number loss	See cases [RCV000142073]	Chr22:18339130..21111370 [GRCh38] Chr22:19024656..21465659 [GRCh37] Chr22:17404656..19795659 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1	copy number loss	See cases [RCV000142253]	Chr22:18166089..21111373 [GRCh38] Chr22:18648856..21465662 [GRCh37] Chr22:17028856..19795662 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1	copy number loss	See cases [RCV000142670]	Chr22:18389245..21151128 [GRCh38] Chr22:20659547..21505417 [GRCh37] Chr22:18989547..19835417 [NCBI36] Chr22:22q11.21	uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1	copy number loss	See cases [RCV000142734]	Chr22:18339130..21307146 [GRCh38] Chr22:18765085..21661435 [GRCh37] Chr22:17145085..19991435 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1	copy number loss	See cases [RCV000142783]	Chr22:18178957..21454720 [GRCh38] Chr22:18661724..21809009 [GRCh37] Chr22:17041724..20139009 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21109830)x1	copy number loss	See cases [RCV000142988]	Chr22:18389245..21109830 [GRCh38] Chr22:20659547..21464119 [GRCh37] Chr22:18989547..19794119 [NCBI36] Chr22:22q11.21	likely pathogenic\|uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	copy number loss	See cases [RCV000143234]	Chr22:18339130..21111370 [GRCh38] Chr22:18916842..21465659 [GRCh37] Chr22:17296842..19795659 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	copy number loss	See cases [RCV000143362]	Chr22:18339130..21111373 [GRCh38] Chr22:18916827..21465662 [GRCh37] Chr22:17296827..19795662 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	copy number loss	See cases [RCV000143442]	Chr22:18339130..21111373 [GRCh38] Chr22:18970561..21465662 [GRCh37] Chr22:17350561..19795662 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1	copy number loss	See cases [RCV000148098]	Chr22:18178957..21086225 [GRCh38] Chr22:18661724..21440514 [GRCh37] Chr22:17041724..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	copy number gain	See cases [RCV000148102]	Chr22:18339130..21454720 [GRCh38] Chr22:18919942..21809009 [GRCh37] Chr22:17299942..20139009 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	copy number loss	See cases [RCV000148104]	Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1	copy number loss	See cases [RCV000148186]	Chr22:18178957..21207225 [GRCh38] Chr22:18661724..21561514 [GRCh37] Chr22:17041724..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3	copy number gain	See cases [RCV000148257]	Chr22:18178957..21151128 [GRCh38] Chr22:18661724..21505417 [GRCh37] Chr22:17041724..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050388]\|Intellectual functioning disability [RCV000050389]\|Cleft palate, isolated [RCV000050390]\|Secundum atrial septal defect [RCV000050391]\|Short stature [RCV000050392]\|Global developmental delay [RCV000050393]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050388]\|See cases [RCV000050388]	Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3	copy number gain	Failure to thrive [RCV000050614]\|See cases [RCV000050614]	Chr22:16916608..21151128 [GRCh38] Chr22:17397498..21505417 [GRCh37] Chr22:15777498..19835417 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050628]\|Global developmental delay [RCV000050629]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050628]\|See cases [RCV000050628]	Chr22:18339130..21454720 [GRCh38] Chr22:18919942..21809009 [GRCh37] Chr22:17299942..20139009 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21207225)x1	copy number loss	Aortic aneurysm [RCV000050893]\|See cases [RCV000050893]	Chr22:18389245..21207225 [GRCh38] Chr22:20659547..21561514 [GRCh37] Chr22:18989547..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050992]\|Coarctation of aorta [RCV000050993]\|Global developmental delay [RCV000050994]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050992]\|See cases [RCV000050992]	Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	copy number loss	Global developmental delay [RCV000051270]\|See cases [RCV000051270]	Chr22:16538125..20363937 [GRCh38] Chr22:17019015..20718227 [GRCh37] Chr22:15399015..19048227 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1	copy number loss	Global developmental delay [RCV000051272]\|See cases [RCV000051272]	Chr22:18145252..21151128 [GRCh38] Chr22:18628019..21505417 [GRCh37] Chr22:17008019..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1	copy number loss	Intellectual functioning disability [RCV000051275]\|See cases [RCV000051275]	Chr22:18167908..21101267 [GRCh38] Chr22:18650675..21455556 [GRCh37] Chr22:17030675..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1	copy number loss	Abnormal facial shape [RCV000051283]\|Seizure [RCV000051284]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051285]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051285]\|See cases [RCV000051283]	Chr22:18178957..21086225 [GRCh38] Chr22:18661724..21440514 [GRCh37] Chr22:17041724..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051286]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051286]\|See cases [RCV000051286]	Chr22:18188862..21182552 [GRCh38] Chr22:18671629..21536841 [GRCh37] Chr22:17051629..19866841 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051295]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051295]\|See cases [RCV000051295]	Chr22:18339130..21151269 [GRCh38] Chr22:18705801..21505558 [GRCh37] Chr22:17085801..19835558 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	copy number loss	Abnormality of the heart [RCV000051297]\|See cases [RCV000051297]	Chr22:18339130..20343532 [GRCh38] Chr22:18706001..20659606 [GRCh37] Chr22:17086001..18989606 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051324]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051324]\|See cases [RCV000051324]	Chr22:18339130..21086225 [GRCh38] Chr22:18896972..21440514 [GRCh37] Chr22:17276972..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671566)x1	copy number loss	Global developmental delay [RCV000051327]\|See cases [RCV000051327]	Chr22:18339130..20671566 [GRCh38] Chr22:18919742..21025854 [GRCh37] Chr22:17299742..19355854 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1	copy number loss	Global developmental delay [RCV000051328]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051329]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051329]\|See cases [RCV000051328]	Chr22:18339130..21151269 [GRCh38] Chr22:18919742..21505558 [GRCh37] Chr22:17299742..19835558 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051918]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051918]\|See cases [RCV000051918]	Chr22:18169870..21559889 [GRCh38] Chr22:18652637..21914178 [GRCh37] Chr22:17032637..20244178 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	copy number gain	Global developmental delay [RCV000051944]\|See cases [RCV000051944]	Chr22:18339130..21207225 [GRCh38] Chr22:20402633..21561514 [GRCh37] Chr22:18782633..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3	copy number gain	Macrocephaly [RCV000053012]\|Nonsyndromic microcephaly [RCV000053013]\|Attention deficit-hyperactivity disorder [RCV000053014]\|See cases [RCV000053012]	Chr22:18339130..21101267 [GRCh38] Chr22:18938161..21455556 [GRCh37] Chr22:17318161..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1	copy number loss	Global developmental delay [RCV000053015]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053016]\|Global developmental delay [RCV000053017]\|Global developmental delay [RCV000053018]\|Polydactyly [RCV000053019]\|Irido-corneo-trabecular dysgenesis [RCV000053020]\|Abnormality of the heart [RCV000053021]\|Pulmonic stenosis [RCV000053022]\|Talipes equinovarus [RCV000053023]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053016]\|See cases [RCV000053015]	Chr22:18339130..21101267 [GRCh38] Chr22:18938161..21455556 [GRCh37] Chr22:17318161..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20641963)x1	copy number loss	Intellectual functioning disability [RCV000053025]\|See cases [RCV000053025]	Chr22:18339130..20641963 [GRCh38] Chr22:18938161..20996250 [GRCh37] Chr22:17318161..19326250 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1	copy number loss	Global developmental delay [RCV000053027]\|See cases [RCV000053027]	Chr22:18339130..21101267 [GRCh38] Chr22:18962313..21455556 [GRCh37] Chr22:17342313..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x1	copy number loss	See cases [RCV000133643]	Chr22:18389245..21086225 [GRCh38] Chr22:20659547..21440514 [GRCh37] Chr22:18989547..19770514 [NCBI36] Chr22:22q11.21	uncertain significance
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	copy number gain	See cases [RCV000133682]	Chr22:16916608..20343532 [GRCh38] Chr22:17397498..20659606 [GRCh37] Chr22:15777498..18989606 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	copy number gain	See cases [RCV000133880]	Chr22:18339130..21207225 [GRCh38] Chr22:18894835..21561514 [GRCh37] Chr22:17274835..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3	copy number gain	See cases [RCV000133887]	Chr22:18339130..21151128 [GRCh38] Chr22:18894835..21505417 [GRCh37] Chr22:17274835..19835417 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x1	copy number loss	See cases [RCV000134085]	Chr22:18339130..21086226 [GRCh38] Chr22:18894820..21440515 [GRCh37] Chr22:17274820..19770515 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3	copy number gain	See cases [RCV000134128]	Chr22:18178932..21151156 [GRCh38] Chr22:18661699..21505445 [GRCh37] Chr22:17041699..19835445 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1	copy number loss	See cases [RCV000134130]	Chr22:18178932..21151156 [GRCh38] Chr22:18661699..21505445 [GRCh37] Chr22:17041699..19835445 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3	copy number gain	See cases [RCV000134519]	Chr22:18339130..21107463 [GRCh38] Chr22:18894835..21461752 [GRCh37] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1	copy number loss	See cases [RCV000134837]	Chr22:18145380..21086226 [GRCh38] Chr22:18628147..21440515 [GRCh37] Chr22:17008147..19770515 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x3	copy number gain	See cases [RCV000135512]	Chr22:18339130..20354644 [GRCh38] Chr22:18919942..20708934 [GRCh37] Chr22:17299942..19038934 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3	copy number gain	See cases [RCV000135519]	Chr22:18178957..21086225 [GRCh38] Chr22:18661724..21440514 [GRCh37] Chr22:17041724..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-20343532)x1	copy number loss	See cases [RCV000135619]	Chr22:18178957..20343532 [GRCh38] Chr22:18661724..20659606 [GRCh37] Chr22:17041724..18989606 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3	copy number gain	See cases [RCV000135898]	Chr22:18339130..21003834 [GRCh38] Chr22:18908832..21358123 [GRCh37] Chr22:17288832..19688123 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	copy number loss	See cases [RCV000136677]	Chr22:18339130..21086225 [GRCh38] Chr22:19058829..21440514 [GRCh37] Chr22:17438829..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3	copy number gain	See cases [RCV000137927]	Chr22:18389245..21454720 [GRCh38] Chr22:20659547..21809009 [GRCh37] Chr22:18989547..20139009 [NCBI36] Chr22:22q11.21	uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	copy number loss	See cases [RCV000137960]	Chr22:18339130..21109830 [GRCh38] Chr22:18894835..21464119 [GRCh37] Chr22:17274835..19794119 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1	copy number loss	See cases [RCV000137985]	Chr22:18145252..21109830 [GRCh38] Chr22:18628019..21464119 [GRCh37] Chr22:17008019..19794119 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	copy number gain	See cases [RCV000138187]	Chr22:18339130..21454720 [GRCh38] Chr22:18894835..21809009 [GRCh37] Chr22:17274835..20139009 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	copy number loss	See cases [RCV000138354]	Chr22:18339130..21109830 [GRCh38] Chr22:18706001..21464119 [GRCh37] Chr22:17086001..19794119 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1	copy number loss	See cases [RCV000138671]	Chr22:18178957..21109830 [GRCh38] Chr22:18661724..21464119 [GRCh37] Chr22:17041724..19794119 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3	copy number gain	See cases [RCV000139000]	Chr22:18339130..21151156 [GRCh38] Chr22:18894820..21505445 [GRCh37] Chr22:17274820..19835445 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3	copy number gain	See cases [RCV000142641]	Chr22:18339130..21447315 [GRCh38] Chr22:18919942..21801604 [GRCh37] Chr22:17299942..20131604 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3	copy number gain	See cases [RCV000143391]	Chr22:18339130..21111370 [GRCh38] Chr22:18916828..21465659 [GRCh37] Chr22:17296828..19795659 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050387]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050387]\|See cases [RCV000050387]	Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x3	copy number gain	See cases [RCV000050729]	Chr22:18339130..20343532 [GRCh38] Chr22:18919942..20659606 [GRCh37] Chr22:17299942..18989606 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	copy number gain	Cholesteatoma [RCV000050768]\|See cases [RCV000050768]	Chr22:18178957..31821193 [GRCh38] Chr22:18661724..32217179 [GRCh37] Chr22:17041724..30547179 [NCBI36] Chr22:22q11.21-12.3	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050991]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050991]\|See cases [RCV000050991]	Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	copy number loss	Feeding difficulties in infancy [RCV000051024]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051025]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051025]\|See cases [RCV000051024]	Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:17086001..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1	copy number loss	Tetralogy of Fallot [RCV000051325]\|Abnormal facial shape [RCV000051326]\|See cases [RCV000051325]	Chr22:18339130..21086366 [GRCh38] Chr22:18919742..21440655 [GRCh37] Chr22:17299742..19770655 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21056995)x3	copy number gain	Pulmonic stenosis [RCV000051919]\|See cases [RCV000051919]	Chr22:18339130..21056995 [GRCh38] Chr22:18704554..21411284 [GRCh37] Chr22:17084554..19741284 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21444466)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051939]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051939]\|See cases [RCV000051939]	Chr22:18339130..21444466 [GRCh38] Chr22:18909038..21798755 [GRCh37] Chr22:17289038..20128755 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x3	copy number gain	See cases [RCV000134084]	Chr22:18339130..21086226 [GRCh38] Chr22:18894820..21440515 [GRCh37] Chr22:17274820..19770515 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	copy number gain	See cases [RCV000135456]	Chr22:18339130..21207225 [GRCh38] Chr22:19058829..21561514 [GRCh37] Chr22:17438829..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1	copy number loss	See cases [RCV000136758]	Chr22:18339130..21441926 [GRCh38] Chr22:18891526..21796215 [GRCh37] Chr22:17271526..20126215 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3	copy number gain	See cases [RCV000139955]	Chr22:18339130..21111373 [GRCh38] Chr22:18916828..21465662 [GRCh37] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	copy number loss	See cases [RCV000140853]	Chr22:18339130..21109830 [GRCh38] Chr22:19035323..21464119 [GRCh37] Chr22:17415323..19794119 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107463)x3	copy number gain	See cases [RCV000141416]	Chr22:18178957..21107463 [GRCh38] Chr22:18661724..21461752 [GRCh37] Chr22:17041724..19791752 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1	copy number loss	See cases [RCV000142151]	Chr22:18161474..21111373 [GRCh38] Chr22:18644241..21465662 [GRCh37] Chr22:17024241..19795662 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	copy number loss	See cases [RCV000142546]	Chr22:18339130..20343532 [GRCh38] Chr22:18919942..20659606 [GRCh37] Chr22:17299942..18989606 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3	copy number gain	See cases [RCV000143229]	Chr22:18339130..21111370 [GRCh38] Chr22:18916842..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	copy number gain	See cases [RCV000148047]	Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050290]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050290]\|See cases [RCV000050290]	Chr22:18339130..20671425 [GRCh38] Chr22:18706001..21025713 [GRCh37] Chr22:17086001..19355713 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	copy number gain	See cases [RCV000051023]	Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:17086001..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3	copy number gain	Global developmental delay [RCV000051276]\|See cases [RCV000051276]	Chr22:18177786..21101267 [GRCh38] Chr22:18660553..21455556 [GRCh37] Chr22:17040553..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051298]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051298]\|See cases [RCV000051298]	Chr22:18339130..21454720 [GRCh38] Chr22:18706001..21809009 [GRCh37] Chr22:17086001..20139009 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21040441)x1	copy number loss	Abnormal facial shape [RCV000051321]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051322]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051322]\|See cases [RCV000051321]	Chr22:18339130..21040441 [GRCh38] Chr22:18890271..21394730 [GRCh37] Chr22:17270271..19724730 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207381)x3	copy number gain	Cleft upper lip [RCV000051920]\|See cases [RCV000051920]	Chr22:18339130..21207381 [GRCh38] Chr22:18705801..21561670 [GRCh37] Chr22:17085801..19891670 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3	copy number gain	Global developmental delay [RCV000051937]\|See cases [RCV000051937]	Chr22:18339130..21151128 [GRCh38] Chr22:18890271..21505417 [GRCh37] Chr22:17270271..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051938]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051938]\|See cases [RCV000051938]	Chr22:18339130..21207225 [GRCh38] Chr22:18890271..21561514 [GRCh37] Chr22:17270271..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051942]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051942]\|See cases [RCV000051942]	Chr22:18339130..21101267 [GRCh38] Chr22:18950766..21455556 [GRCh37] Chr22:17330766..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20588575)x3	copy number gain	Pectus excavatum [RCV000051943]\|See cases [RCV000051943]	Chr22:18339130..20588575 [GRCh38] Chr22:19168758..20942862 [GRCh37] Chr22:17519027..19272862 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1	copy number loss	Global developmental delay [RCV000053003]\|See cases [RCV000053003]	Chr22:18339130..20671425 [GRCh38] Chr22:18919942..21025713 [GRCh37] Chr22:17299942..19355713 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053029]\|Global developmental delay [RCV000053030]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053029]\|See cases [RCV000053029]	Chr22:18339130..21101267 [GRCh38] Chr22:18999803..21455556 [GRCh37] Chr22:17379803..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	copy number loss	Global developmental delay [RCV000053032]\|See cases [RCV000053032]	Chr22:18339130..21151128 [GRCh38] Chr22:19029602..21505417 [GRCh37] Chr22:17409602..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1	copy number loss	Global developmental delay [RCV000053047]\|See cases [RCV000053047]	Chr22:18339130..21107522 [GRCh38] Chr22:19035017..21461811 [GRCh37] Chr22:17415017..19791811 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053104]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053104]\|See cases [RCV000053104]	Chr22:16916608..24358936 [GRCh38] Chr22:17397498..24754904 [GRCh37] Chr22:15777498..23084904 [NCBI36] Chr22:22q11.1-11.23	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3	copy number gain	See cases [RCV000133785]	Chr22:16916608..20354644 [GRCh38] Chr22:17397498..20708934 [GRCh37] Chr22:15777498..19038934 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	copy number loss	See cases [RCV000133998]	Chr22:18339130..20343532 [GRCh38] Chr22:18894835..20659606 [GRCh37] Chr22:17274835..18989606 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1	copy number loss	See cases [RCV000134520]	Chr22:18339130..21107463 [GRCh38] Chr22:18894835..21461752 [GRCh37] Chr22:17274835..19791752 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3	copy number gain	See cases [RCV000135308]	Chr22:18168847..21086166 [GRCh38] Chr22:18651614..21440455 [GRCh37] Chr22:17031614..19770455 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3	copy number gain	See cases [RCV000136518]	Chr22:18178957..21307146 [GRCh38] Chr22:18661724..21661435 [GRCh37] Chr22:17041724..19991435 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1	copy number loss	See cases [RCV000140773]	Chr22:18339130..21101210 [GRCh38] Chr22:18999803..21455499 [GRCh37] Chr22:17379803..19785499 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	copy number loss	See cases [RCV000141233]	Chr22:18339130..23480799 [GRCh38] Chr22:20279766..23822986 [GRCh37] Chr22:18659766..22152986 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1	copy number loss	See cases [RCV000141677]	Chr22:18339130..21450597 [GRCh38] Chr22:18916842..21804886 [GRCh37] Chr22:17296842..20134886 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3	copy number gain	See cases [RCV000141737]	Chr22:18157962..21111370 [GRCh38] Chr22:18640729..21465659 [GRCh37] Chr22:17020729..19795659 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	copy number loss	See cases [RCV000143126]	Chr22:18339130..21111373 [GRCh38] Chr22:18916828..21465662 [GRCh37] Chr22:17296828..19795662 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	copy number loss	See cases [RCV000143225]	Chr22:18339130..21111373 [GRCh38] Chr22:18916842..21465662 [GRCh37] Chr22:17296842..19795662 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	copy number loss	See cases [RCV000143293]	Chr22:18339130..21111370 [GRCh38] Chr22:18876630..21465659 [GRCh37] Chr22:17256630..19795659 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	copy number loss	See cases [RCV000148101]	Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:17086001..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3	copy number gain	See cases [RCV000148103]	Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1	copy number loss	See cases [RCV000148160]	Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1	copy number loss	See cases [RCV000148178]	Chr22:18145252..21151128 [GRCh38] Chr22:18628019..21505417 [GRCh37] Chr22:17008019..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050271]\|Global developmental delay [RCV000050272]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050271]\|See cases [RCV000050271]	Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050273]\|Branchial anomaly [RCV000050274]\|Autism [RCV000050275]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050273]\|See cases [RCV000050273]	Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1	copy number loss	See cases [RCV000051035]	Chr22:18339130..20354644 [GRCh38] Chr22:18919942..20708934 [GRCh37] Chr22:17299942..19038934 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051170]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051170]\|See cases [RCV000051170]	Chr22:18178957..21151128 [GRCh38] Chr22:18661724..21505417 [GRCh37] Chr22:17041724..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051171]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051171]\|See cases [RCV000051171]	Chr22:18178957..21151128 [GRCh38] Chr22:18661724..21505417 [GRCh37] Chr22:17041724..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18145052-21086366)x1	copy number loss	Global developmental delay [RCV000051271]\|See cases [RCV000051271]	Chr22:18145052..21086366 [GRCh38] Chr22:18627819..21440655 [GRCh37] Chr22:17007819..19770655 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051273]\|Global developmental delay [RCV000051274]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051273]\|See cases [RCV000051273]	Chr22:18167908..21101267 [GRCh38] Chr22:18650675..21455556 [GRCh37] Chr22:17030675..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1	copy number loss	Global developmental delay [RCV000051277]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051278]\|Global developmental delay [RCV000051279]\|Hydronephrosis [RCV000051280]\|Cleft palate, isolated [RCV000051281]\|Nonsyndromic microcephaly [RCV000051282]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051278]\|See cases [RCV000051278]	Chr22:18177786..21101267 [GRCh38] Chr22:18660553..21455556 [GRCh37] Chr22:17040553..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051940]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051940]\|See cases [RCV000051940]	Chr22:18339130..21086225 [GRCh38] Chr22:18909038..21440514 [GRCh37] Chr22:17289038..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053006]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053006]\|See cases [RCV000053006]	Chr22:18339130..21151269 [GRCh38] Chr22:18919942..21505558 [GRCh37] Chr22:17299942..19835558 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x3	copy number gain	See cases [RCV000133642]	Chr22:18389245..21086225 [GRCh38] Chr22:20659547..21440514 [GRCh37] Chr22:18989547..19770514 [NCBI36] Chr22:22q11.21	uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1	copy number loss	See cases [RCV000133786]	Chr22:16916608..20354644 [GRCh38] Chr22:17397498..20708934 [GRCh37] Chr22:15777498..19038934 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1	copy number loss	See cases [RCV000133881]	Chr22:18339130..21207225 [GRCh38] Chr22:18894835..21561514 [GRCh37] Chr22:17274835..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	copy number loss	See cases [RCV000136527]	Chr22:18339130..21151128 [GRCh38] Chr22:20311704..21505417 [GRCh37] Chr22:18691704..19835417 [NCBI36] Chr22:22q11.21	uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1	copy number loss	See cases [RCV000136808]	Chr22:18339130..21028664 [GRCh38] Chr22:18896972..21382953 [GRCh37] Chr22:17276972..19712953 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1	copy number loss	See cases [RCV000137504]	Chr22:18178957..21107522 [GRCh38] Chr22:18661724..21461811 [GRCh37] Chr22:17041724..19791811 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20980781)x1	copy number loss	See cases [RCV000141782]	Chr22:18339130..20980781 [GRCh38] Chr22:20277314..21335070 [GRCh37] Chr22:18657314..19665070 [NCBI36] Chr22:22q11.21	uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1	copy number loss	See cases [RCV000148086]	Chr22:18339130..20671425 [GRCh38] Chr22:18706001..21025713 [GRCh37] Chr22:17086001..19355713 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	copy number loss	See cases [RCV000148100]	Chr22:18339130..21151128 [GRCh38] Chr22:18706001..21505417 [GRCh37] Chr22:17086001..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	copy number loss	See cases [RCV000148136]	Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	copy number gain	See cases [RCV000148206]	Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	copy number loss	See cases [RCV000148287]	Chr22:18339130..20343532 [GRCh38] Chr22:18706001..20659606 [GRCh37] Chr22:17086001..18989606 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050360]\|Abnormality of the heart [RCV000050361]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050360]\|See cases [RCV000050360]	Chr22:18178957..21207225 [GRCh38] Chr22:18661724..21561514 [GRCh37] Chr22:17041724..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050550]\|Global developmental delay [RCV000050551]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050550]\|See cases [RCV000050550]	Chr22:18339130..21151128 [GRCh38] Chr22:18706001..21505417 [GRCh37] Chr22:17086001..19835417 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1	copy number loss	See cases [RCV000050630]	Chr22:18339130..21454720 [GRCh38] Chr22:18919942..21809009 [GRCh37] Chr22:17299942..20139009 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051301]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051301]\|See cases [RCV000051301]	Chr22:18339130..21107522 [GRCh38] Chr22:18890271..21461811 [GRCh37] Chr22:17270271..19791811 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	copy number loss	Global developmental delay [RCV000051319]\|See cases [RCV000051319]	Chr22:18339130..20343532 [GRCh38] Chr22:18890271..20659606 [GRCh37] Chr22:17270271..18989606 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051323]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051323]\|See cases [RCV000051323]	Chr22:18339130..21086225 [GRCh38] Chr22:18896972..21440514 [GRCh37] Chr22:17276972..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x4	copy number gain	See cases [RCV000133889]	Chr22:18339130..21151128 [GRCh38] Chr22:18894835..21505417 [GRCh37] Chr22:17274835..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	copy number loss	See cases [RCV000133890]	Chr22:18339130..21151128 [GRCh38] Chr22:18894835..21505417 [GRCh37] Chr22:17274835..19835417 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1	copy number loss	See cases [RCV000138169]	Chr22:18339130..21107522 [GRCh38] Chr22:18894835..21461811 [GRCh37] Chr22:17274835..19791811 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3	copy number gain	See cases [RCV000139316]	Chr22:18178932..22562620 [GRCh38] Chr22:18661699..22905025 [GRCh37] Chr22:17041699..21235025 [NCBI36] Chr22:22q11.21-11.22	pathogenic
Single allele	deletion	Schizophrenia [RCV000754241]	Chr22:18159879..21387988 [GRCh38] Chr22:22q11.21	pathogenic
Single allele	deletion	Schizophrenia [RCV000754242]	Chr22:18163926..21277123 [GRCh38] Chr22:22q11.21	pathogenic
Single allele	deletion	Schizophrenia [RCV000754243]	Chr22:18802709..21343709 [GRCh38] Chr22:22q11.21	pathogenic
Single allele	deletion	Schizophrenia [RCV000754244]	Chr22:18832909..21123588 [GRCh38] Chr22:22q11.21	pathogenic
Single allele	deletion	Schizophrenia [RCV000754246]	Chr22:18880919..20346734 [GRCh38] Chr22:22q11.21	pathogenic
Single allele	deletion	Schizophrenia [RCV000754247]	Chr22:18880919..21123588 [GRCh38] Chr22:22q11.21	pathogenic
Single allele	duplication	Autistic disorder of childhood onset [RCV000754249]	Chr22:18904453..21277123 [GRCh38] Chr22:22q11.21	pathogenic
Single allele	duplication	Autistic disorder of childhood onset [RCV000754250]	Chr22:19295635..21510330 [GRCh38] Chr22:22q11.21	pathogenic
Single allele	deletion	Schizophrenia [RCV000754251]	Chr22:20346735..21149007 [GRCh38] Chr22:22q11.21	likely pathogenic
Single allele	deletion	Schizophrenia [RCV000754252]	Chr22:20346735..21277123 [GRCh38] Chr22:22q11.21	likely pathogenic
Single allele	deletion	Schizophrenia [RCV000754245]	Chr22:18846939..21221413 [GRCh38] Chr22:22q11.21	pathogenic
Single allele	deletion	Schizophrenia [RCV000754240]	Chr22:18159879..21362822 [GRCh38] Chr22:22q11.21	pathogenic

Additional Information

External Database Links

More on FAM230G
	Alliance Gene
	NCBI Gene
	Ensembl Gene
	JBrowse: hg19 hg38
	HGNC Report
	NCBI Genome Data Viewer

CRRD Object Information
CRRD ID:	13782007
Created:	2018-08-14
Species:	Homo sapiens
Last Modified:	2019-11-26
Status:	ACTIVE

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.

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Imported Annotations - ClinVar