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Gene: LOC128924802 (STARR-positive B cell enhancer ABC_E6068) Mus musculus

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Symbol:

LOC128924802

Name:

STARR-positive B cell enhancer ABC_E6068

RGD ID:

163696438

Description:

This genomic region was identified as a putative B cell regulatory element by FAIRE-seq (formaldehyde-assisted isolation of regulatory elements sequencing), and was validated as an enhancer by STARR-seq (self-transcribing active regulatory region sequencing) in lipopolysaccharide-activated mouse splenic B cells. A subregion was identified as a candidate cis-regulatory module (CRM) in developing mouse thymocytes based on a combination of DNase I hypersensitivity and transcription factor binding. That CRM was validated as an active enhancer by high-throughput CapStarr-seq reporter assays showing weak activity in NIH3T3 fibroblasts. [provided by RefSeq, Oct 2023]

Type:

biological-region

RefSeq Status:

REVIEWED

Previously known as:

CapStarr-seq enhancer MGSCv37_chr3:87333628-87333811; Rr367450

Latest Assembly:

GRCm39 - Mouse Genome Assembly GRCm39

Position:

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	87,436,923 - 87,437,224 (+)	NCBI	GRCm39	GRCm39	mm39

JBrowse:

View Region in Genome Browser (JBrowse)

Model

PMID:25872643	PMID:31873292	PMID:31873293

Variants in LOC128924802
5 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000050445]	Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 21q22.11(chr21:31339386-32311519)x1	copy number loss	See cases [RCV000052805]	Chr21:31339386..32311519 [GRCh38] Chr21:32711701..33683830 [GRCh37] Chr21:31633572..32605701 [NCBI36] Chr21:21q22.11	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053042]	Chr21:7749532..46623792 [GRCh38] Chr21:14595524..48043704 [GRCh37] Chr21:13517395..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	copy number gain	See cases [RCV000053040]	Chr21:7749532..46653090 [GRCh38] Chr21:14539679..48073002 [GRCh37] Chr21:13461550..46897430 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053043]	Chr21:7749532..46623792 [GRCh38] Chr21:14629063..48043704 [GRCh37] Chr21:13550934..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3	copy number gain	See cases [RCV000053045]	Chr21:7749532..46670546 [GRCh38] Chr21:15499647..48090458 [GRCh37] Chr21:14421518..46914886 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	copy number gain	See cases [RCV000053065]	Chr21:7749532..46661140 [GRCh38] Chr21:15499647..48081052 [GRCh37] Chr21:14421518..46905480 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	copy number gain	See cases [RCV000053067]	Chr21:7749532..46661140 [GRCh38] Chr21:15499847..48081052 [GRCh37] Chr21:14421718..46905480 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000053068]	Chr21:7749532..46670405 [GRCh38] Chr21:20655360..48090317 [GRCh37] Chr21:19577231..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053039]	Chr21:7749532..46623792 [GRCh38] Chr21:14524963..48043704 [GRCh37] Chr21:13446834..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	copy number gain	See cases [RCV000134509]	Chr21:7749532..46649831 [GRCh38] Chr21:14577835..48069743 [GRCh37] Chr21:13499706..46894171 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	copy number gain	See cases [RCV000134842]	Chr21:7749532..46670440 [GRCh38] Chr21:15513244..48090352 [GRCh37] Chr21:14435115..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.11(chr21:32338306-32536076)x3	copy number gain	See cases [RCV000053626]	Chr21:32338306..32536076 [GRCh38] Chr21:33710615..33908386 [GRCh37] Chr21:32632486..32830257 [NCBI36] Chr21:21q22.11	benign
NM_014825.2(URB1):c.3338C>T (p.Pro1113Leu)	single nucleotide variant	Malignant melanoma [RCV000072811]	Chr21:32347486 [GRCh38] Chr21:33719795 [GRCh37] Chr21:32641666 [NCBI36] Chr21:21q22.11	not provided
NM_014825.2(URB1):c.2361C>T (p.Val787=)	single nucleotide variant	Malignant melanoma [RCV000072812]	Chr21:32353988 [GRCh38] Chr21:33726297 [GRCh37] Chr21:32648168 [NCBI36] Chr21:21q22.11	not provided
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	copy number gain	See cases [RCV000135310]	Chr21:7749532..46670346 [GRCh38] Chr21:34111831..48090258 [GRCh37] Chr21:33033702..46914686 [NCBI36] Chr21:21q22.11-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	copy number gain	See cases [RCV000133676]	Chr21:7749532..42971047 [GRCh38] Chr21:15499847..44391157 [GRCh37] Chr21:14421718..43264226 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	copy number gain	See cases [RCV000134727]	Chr21:7749532..46653084 [GRCh38] Chr21:15485038..48072996 [GRCh37] Chr21:14406909..46897424 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	copy number gain	See cases [RCV000134119]	Chr21:7749532..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	copy number gain	See cases [RCV000134836]	Chr21:7749532..46664250 [GRCh38] Chr21:15485038..48084162 [GRCh37] Chr21:14406909..46908590 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1	copy number loss	See cases [RCV000141575]	Chr21:29880468..36062331 [GRCh37] Chr21:28802339..34984201 [NCBI36] Chr21:21q21.3-22.12	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	copy number gain	See cases [RCV000135448]	Chr21:7749532..46660999 [GRCh38] Chr21:15499847..48080911 [GRCh37] Chr21:14421718..46905339 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000137337]	Chr21:7749532..46671060 [GRCh38] Chr21:10697897..48090972 [GRCh37] Chr21:1..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000137255]	Chr21:7749532..46671060 [GRCh38] Chr21:35319225..48090972 [GRCh37] Chr21:34241095..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	copy number loss	See cases [RCV000138095]	Chr21:7749532..37653653 [GRCh38] Chr21:15451032..39025955 [GRCh37] Chr21:14372903..37947825 [NCBI36] Chr21:21p11.2-q22.13	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000138216]	Chr21:7749532..46671060 [GRCh38] Chr21:10944001..48090972 [GRCh37] Chr21:9965872..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000138436]	Chr21:7749532..46671060 [GRCh38] Chr21:15451032..48090972 [GRCh37] Chr21:14372903..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	copy number gain	See cases [RCV000140103]	Chr21:7749532..46670346 [GRCh38] Chr21:14577894..48090258 [GRCh37] Chr21:13499765..46914686 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	copy number gain	See cases [RCV000141346]	Chr21:7749532..46698247 [GRCh38] Chr21:14577835..48118159 [GRCh37] Chr21:13499706..46942587 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000141827]	Chr21:7749532..46677460 [GRCh38] Chr21:28285299..48097372 [GRCh37] Chr21:27207170..46921800 [NCBI36] Chr21:21q21.3-22.3	uncertain significance
NM_001379228.1(MRAP):c.486C>G (p.Pro162=)	single nucleotide variant	Glucocorticoid deficiency 2 [RCV000273201]	Chr21:32311963 [GRCh38] Chr21:33684274 [GRCh37] Chr21:21q22.11	uncertain significance
NM_001379228.1(MRAP):c.219G>A (p.Lys73=)	single nucleotide variant	Glucocorticoid deficiency 2 [RCV000314371]	Chr21:32311696 [GRCh38] Chr21:33684007 [GRCh37] Chr21:21q22.11	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	See cases [RCV000447749]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_014825.3(URB1):c.5792G>A (p.Arg1931Lys)	single nucleotide variant	not provided [RCV000948500]	Chr21:32319217 [GRCh38] Chr21:33691527 [GRCh37] Chr21:21q22.11	benign
NM_014825.3(URB1):c.1369T>A (p.Ser457Thr)	single nucleotide variant	not provided [RCV000893774]	Chr21:32363296 [GRCh38] Chr21:33735605 [GRCh37] Chr21:21q22.11	benign
NM_001379228.1(MRAP):c.451G>A (p.Gly151Ser)	single nucleotide variant	Glucocorticoid deficiency 2 [RCV001141808]	Chr21:32311928 [GRCh38] Chr21:33684239 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4473G>A (p.Thr1491=)	single nucleotide variant	not provided [RCV000889296]	Chr21:32338744 [GRCh38] Chr21:33711053 [GRCh37] Chr21:21q22.11	benign
NM_014825.3(URB1):c.2425G>A (p.Val809Ile)	single nucleotide variant	not provided [RCV002275695]	Chr21:32352898 [GRCh38] Chr21:33725207 [GRCh37] Chr21:21q22.11	not provided
NM_014825.3(URB1):c.1214C>T (p.Pro405Leu)	single nucleotide variant	not provided [RCV002276511]	Chr21:32366739 [GRCh38] Chr21:33739048 [GRCh37] Chr21:21q22.11	not provided
NM_014825.3(URB1):c.4567A>T (p.Ser1523Cys)	single nucleotide variant	not specified [RCV004306966]	Chr21:32337458 [GRCh38] Chr21:33709767 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4852C>A (p.Pro1618Thr)	single nucleotide variant	not specified [RCV004220077]	Chr21:32334168 [GRCh38] Chr21:33706477 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6211C>T (p.Pro2071Ser)	single nucleotide variant	not specified [RCV004159658]	Chr21:32316889 [GRCh38] Chr21:33689200 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4796G>A (p.Arg1599Gln)	single nucleotide variant	not specified [RCV004100908]	Chr21:32334224 [GRCh38] Chr21:33706533 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5742C>G (p.His1914Gln)	single nucleotide variant	not specified [RCV004144793]	Chr21:32319267 [GRCh38] Chr21:33691577 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1394G>T (p.Arg465Met)	single nucleotide variant	not specified [RCV004195623]	Chr21:32363271 [GRCh38] Chr21:33735580 [GRCh37] Chr21:21q22.11	uncertain significance
NM_001379228.1(MRAP):c.435A>C (p.Glu145Asp)	single nucleotide variant	Inborn genetic diseases [RCV002793733]	Chr21:32311912 [GRCh38] Chr21:33684223 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1645G>A (p.Ala549Thr)	single nucleotide variant	not specified [RCV004132495]	Chr21:32361118 [GRCh38] Chr21:33733427 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4418C>T (p.Pro1473Leu)	single nucleotide variant	not specified [RCV004105598]	Chr21:32338799 [GRCh38] Chr21:33711108 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4733G>A (p.Arg1578Gln)	single nucleotide variant	not specified [RCV004205128]	Chr21:32334287 [GRCh38] Chr21:33706596 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.925A>G (p.Asn309Asp)	single nucleotide variant	not specified [RCV004122848]	Chr21:32372583 [GRCh38] Chr21:33744892 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4553C>G (p.Pro1518Arg)	single nucleotide variant	not specified [RCV004234389]	Chr21:32337472 [GRCh38] Chr21:33709781 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5750A>G (p.Asn1917Ser)	single nucleotide variant	not specified [RCV004164432]	Chr21:32319259 [GRCh38] Chr21:33691569 [GRCh37] Chr21:21q22.11	uncertain significance
NM_001379228.1(MRAP):c.353G>A (p.Gly118Asp)	single nucleotide variant	Inborn genetic diseases [RCV002802433]	Chr21:32311830 [GRCh38] Chr21:33684141 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.2888G>A (p.Arg963His)	single nucleotide variant	not specified [RCV004085055]	Chr21:32349428 [GRCh38] Chr21:33721737 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3394G>C (p.Glu1132Gln)	single nucleotide variant	not specified [RCV004223805]	Chr21:32347430 [GRCh38] Chr21:33719739 [GRCh37] Chr21:21q22.11	uncertain significance
NM_178817.3(MRAP):c.207delG	deletion	Inborn genetic diseases [RCV002854806]	Chr21:32311683 [GRCh38] Chr21:33683994 [GRCh37] Chr21:21q22.11	uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	copy number loss	See cases [RCV000142427]	Chr21:7817158..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000143376]	Chr21:7749532..46677460 [GRCh38] Chr21:15006458..48097372 [GRCh37] Chr21:13928329..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	copy number gain	See cases [RCV000143160]	Chr21:7749532..46677460 [GRCh38] Chr21:14386013..48097372 [GRCh37] Chr21:13307884..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000143120]	Chr21:7749532..46677460 [GRCh38] Chr21:15006457..48097372 [GRCh37] Chr21:13928328..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000148131]	Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000053069]	Chr21:7749532..46670405 [GRCh38] Chr21:34423268..48090317 [GRCh37] Chr21:33345138..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	copy number loss	Monosomy 21 [RCV000225665]	Chr21:21754822..32380347 [GRCh38] Chr21:21q21.1-22.11	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	copy number loss	See cases [RCV000239948]	Chr21:15538655..48080926 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	copy number gain	See cases [RCV000240397]	Chr21:15410701..48090317 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.11(chr21:32578640-35060092)x1	copy number loss	See cases [RCV000240540]	Chr21:32578640..35060092 [GRCh37] Chr21:21q22.11	pathogenic
NM_001379228.1(MRAP):c.389C>T (p.Thr130Ile)	single nucleotide variant	Glucocorticoid deficiency 2 [RCV000274551]\|not provided [RCV000964049]	Chr21:32311866 [GRCh38] Chr21:33684177 [GRCh37] Chr21:21q22.11	benign\|likely benign
NM_001379228.1(MRAP):c.234C>G (p.Cys78Trp)	single nucleotide variant	Glucocorticoid deficiency 2 [RCV000366801]\|not provided [RCV000961723]	Chr21:32311711 [GRCh38] Chr21:33684022 [GRCh37] Chr21:21q22.11	benign\|likely benign
NM_001379228.1(MRAP):c.508T>A (p.Leu170Met)	single nucleotide variant	Glucocorticoid deficiency 2 [RCV000328194]\|MRAP-related disorder [RCV003910321]	Chr21:32311985 [GRCh38] Chr21:33684296 [GRCh37] Chr21:21q22.11	likely benign\|uncertain significance
NM_001379228.1(MRAP):c.*108A>G	single nucleotide variant	Glucocorticoid deficiency 2 [RCV000378152]\|not provided [RCV004717455]	Chr21:32312104 [GRCh38] Chr21:33684415 [GRCh37] Chr21:21q22.11	benign
NM_001379228.1(MRAP):c.390C>G (p.Thr130=)	single nucleotide variant	Glucocorticoid deficiency 2 [RCV000327346]	Chr21:32311867 [GRCh38] Chr21:33684178 [GRCh37] Chr21:21q22.11	benign\|likely benign
NM_001379228.1(MRAP):c.446A>G (p.Asn149Ser)	single nucleotide variant	Glucocorticoid deficiency 2 [RCV000384270]	Chr21:32311923 [GRCh38] Chr21:33684234 [GRCh37] Chr21:21q22.11	likely benign\|uncertain significance
GRCh37/hg19 21q22.11(chr21:33032083-34809269)x3	copy number gain	not provided [RCV002293062]	Chr21:33032083..34809269 [GRCh37] Chr21:21q22.11	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3	copy number gain	See cases [RCV000446716]	Chr21:15006457..43598570 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3	copy number gain	See cases [RCV000448874]	Chr21:29812033..39282854 [GRCh37] Chr21:21q21.3-22.13	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	copy number gain	See cases [RCV000447884]	Chr21:14771770..48080867 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3	copy number gain	See cases [RCV000448199]	Chr21:15006457..44827632 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3	copy number gain	See cases [RCV000447729]	Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	copy number gain	See cases [RCV000511589]	Chr21:15006458..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_014825.3(URB1):c.6605C>T (p.Ser2202Phe)	single nucleotide variant	not specified [RCV004313217]	Chr21:32316495 [GRCh38] Chr21:33688806 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4007A>G (p.Lys1336Arg)	single nucleotide variant	not specified [RCV004305553]	Chr21:32345437 [GRCh38] Chr21:33717746 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3197T>C (p.Ile1066Thr)	single nucleotide variant	not specified [RCV004333617]	Chr21:32347627 [GRCh38] Chr21:33719936 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4567A>G (p.Ser1523Gly)	single nucleotide variant	not specified [RCV004321229]	Chr21:32337458 [GRCh38] Chr21:33709767 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3251T>A (p.Leu1084Gln)	single nucleotide variant	not specified [RCV004288112]	Chr21:32347573 [GRCh38] Chr21:33719882 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6433G>A (p.Val2145Met)	single nucleotide variant	not specified [RCV004292632]	Chr21:32316667 [GRCh38] Chr21:33688978 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4393G>A (p.Val1465Met)	single nucleotide variant	not specified [RCV004311276]	Chr21:32338824 [GRCh38] Chr21:33711133 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4078G>A (p.Val1360Met)	single nucleotide variant	not specified [RCV004289541]	Chr21:32344749 [GRCh38] Chr21:33717058 [GRCh37] Chr21:21q22.11	uncertain significance
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3	copy number gain	not provided [RCV000741419]	Chr21:10827533..48100155 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:30214872-34896962)x3	copy number gain	not provided [RCV000741530]	Chr21:30214872..34896962 [GRCh37] Chr21:21q21.3-22.11	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3	copy number gain	not provided [RCV000741413]	Chr21:10699330..48117896 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3	copy number gain	not provided [RCV000741415]	Chr21:10704198..48117896 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3	copy number gain	not provided [RCV000741418]	Chr21:10824040..48090629 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
NM_014825.3(URB1):c.3061G>A (p.Gly1021Ser)	single nucleotide variant	not specified [RCV004317758]	Chr21:32347763 [GRCh38] Chr21:33720072 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4449G>A (p.Ser1483=)	single nucleotide variant	not provided [RCV000882666]	Chr21:32338768 [GRCh38] Chr21:33711077 [GRCh37] Chr21:21q22.11	benign
NM_014825.3(URB1):c.6212C>G (p.Pro2071Arg)	single nucleotide variant	not provided [RCV000949102]	Chr21:32316888 [GRCh38] Chr21:33689199 [GRCh37] Chr21:21q22.11	benign
NM_014825.3(URB1):c.2245+10A>T	single nucleotide variant	not provided [RCV000924605]	Chr21:32354849 [GRCh38] Chr21:33727158 [GRCh37] Chr21:21q22.11	likely benign
GRCh37/hg19 21q22.11(chr21:31711916-34632473)x1	copy number loss	not provided [RCV001007125]	Chr21:31711916..34632473 [GRCh37] Chr21:21q22.11	pathogenic
GRCh37/hg19 21q22.11(chr21:32589903-35359935)	copy number loss	not provided [RCV000767744]	Chr21:32589903..35359935 [GRCh37] Chr21:21q22.11	pathogenic
NM_014825.3(URB1):c.4400C>T (p.Thr1467Met)	single nucleotide variant	not provided [RCV000974492]	Chr21:32338817 [GRCh38] Chr21:33711126 [GRCh37] Chr21:21q22.11	likely benign
GRCh37/hg19 21q22.11(chr21:33645526-33925628)x3	copy number gain	not provided [RCV001007127]	Chr21:33645526..33925628 [GRCh37] Chr21:21q22.11	likely benign
GRCh37/hg19 21q22.11(chr21:33450315-33967122)x1	copy number loss	not provided [RCV000848047]	Chr21:33450315..33967122 [GRCh37] Chr21:21q22.11	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	not provided [RCV000846937]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_014825.3(URB1):c.134C>G (p.Pro45Arg)	single nucleotide variant	not specified [RCV004289065]	Chr21:32392777 [GRCh38] Chr21:33765086 [GRCh37] Chr21:21q22.11	uncertain significance
NM_001379228.1(MRAP):c.*181G>A	single nucleotide variant	Glucocorticoid deficiency 2 [RCV001143613]	Chr21:32312177 [GRCh38] Chr21:33684488 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5892C>T (p.Asn1964=)	single nucleotide variant	not provided [RCV000918824]	Chr21:32317818 [GRCh38] Chr21:33690129 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.3432C>T (p.Pro1144=)	single nucleotide variant	not provided [RCV000887635]	Chr21:32347392 [GRCh38] Chr21:33719701 [GRCh37] Chr21:21q22.11	benign
NM_014825.3(URB1):c.4728G>A (p.Thr1576=)	single nucleotide variant	not provided [RCV000959636]	Chr21:32334292 [GRCh38] Chr21:33706601 [GRCh37] Chr21:21q22.11	benign
NM_014825.3(URB1):c.511C>T (p.His171Tyr)	single nucleotide variant	not provided [RCV000959637]	Chr21:32383478 [GRCh38] Chr21:33755787 [GRCh37] Chr21:21q22.11	likely benign
NM_001379228.1(MRAP):c.*197T>C	single nucleotide variant	Glucocorticoid deficiency 2 [RCV001143614]	Chr21:32312193 [GRCh38] Chr21:33684504 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6652G>A (p.Val2218Met)	single nucleotide variant	not specified [RCV004228597]	Chr21:32315082 [GRCh38] Chr21:33687393 [GRCh37] Chr21:21q22.11	uncertain significance
GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022)	copy number loss	21q22.11q22.12 microdeletion syndrome [RCV001093501]	Chr21:33205064..36039022 [GRCh37] Chr21:21q22.11-22.12	pathogenic
NM_001379228.1(MRAP):c.271C>A (p.Gln91Lys)	single nucleotide variant	Glucocorticoid deficiency 2 [RCV001141807]	Chr21:32311748 [GRCh38] Chr21:33684059 [GRCh37] Chr21:21q22.11	uncertain significance
NM_001379228.1(MRAP):c.*14T>A	single nucleotide variant	Glucocorticoid deficiency 2 [RCV001143612]	Chr21:32312010 [GRCh38] Chr21:33684321 [GRCh37] Chr21:21q22.11	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	copy number gain	See cases [RCV001263025]	Chr21:14629063..48090317 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	copy number gain	Down syndrome [RCV002284306]	Chr21:14420615..48080926 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_014825.3(URB1):c.5303C>G (p.Pro1768Arg)	single nucleotide variant	not provided [RCV002280299]	Chr21:32322515 [GRCh38] Chr21:33694825 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5273C>T (p.Ser1758Leu)	single nucleotide variant	not specified [RCV004685306]	Chr21:32322545 [GRCh38] Chr21:33694855 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5939T>A (p.Val1980Asp)	single nucleotide variant	not specified [RCV004685309]	Chr21:32317771 [GRCh38] Chr21:33690082 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3947C>T (p.Pro1316Leu)	single nucleotide variant	not specified [RCV004685311]	Chr21:32345497 [GRCh38] Chr21:33717806 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1274T>A (p.Met425Lys)	single nucleotide variant	not specified [RCV004685312]	Chr21:32366679 [GRCh38] Chr21:33738988 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6425A>G (p.Asp2142Gly)	single nucleotide variant	not specified [RCV004685313]	Chr21:32316675 [GRCh38] Chr21:33688986 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.170A>G (p.Lys57Arg)	single nucleotide variant	not specified [RCV004685317]	Chr21:32385657 [GRCh38] Chr21:33757966 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3319G>A (p.Ala1107Thr)	single nucleotide variant	not specified [RCV004685318]	Chr21:32347505 [GRCh38] Chr21:33719814 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1657C>T (p.Leu553Phe)	single nucleotide variant	not specified [RCV004685319]	Chr21:32361106 [GRCh38] Chr21:33733415 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6045G>T (p.Lys2015Asn)	single nucleotide variant	not specified [RCV004685320]	Chr21:32317055 [GRCh38] Chr21:33689366 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3014C>T (p.Thr1005Met)	single nucleotide variant	not specified [RCV004685300]	Chr21:32347810 [GRCh38] Chr21:33720119 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6353C>A (p.Ala2118Asp)	single nucleotide variant	not specified [RCV004685307]	Chr21:32316747 [GRCh38] Chr21:33689058 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6342C>A (p.Ser2114Arg)	single nucleotide variant	not specified [RCV004685310]	Chr21:32316758 [GRCh38] Chr21:33689069 [GRCh37] Chr21:21q22.11	uncertain significance
NC_000021.8:g.(?_32439271)_(37133458_?)dup	duplication	Early-onset Parkinson disease 20 [RCV001338842]	Chr21:32439271..37133458 [GRCh37] Chr21:21q22.11-22.12	uncertain significance
Single allele	deletion	ZTTK syndrome [RCV002247722]	Chr21:32213458..34373118 [GRCh38] Chr21:21q22.11	pathogenic
GRCh37/hg19 21q22.11(chr21:33672167-33770826)x1	copy number loss	not provided [RCV001834249]	Chr21:33672167..33770826 [GRCh37] Chr21:21q22.11	uncertain significance
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	copy number gain	See cases [RCV001780078]	Chr21:1..48129895 [GRCh37] Chr21:21p13-q22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	copy number gain	not specified [RCV002052725]	Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	not provided [RCV001829203]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	copy number gain	not specified [RCV002052729]	Chr21:29812033..39282854 [GRCh37] Chr21:21q21.3-22.13	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	copy number gain	not specified [RCV002052724]	Chr21:15041209..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)	copy number loss	not specified [RCV002052728]	Chr21:27185913..35853445 [GRCh37] Chr21:21q21.3-22.12	uncertain significance
GRCh37/hg19 21q22.11(chr21:32676376-35131913)x3	copy number gain	not provided [RCV001832874]	Chr21:32676376..35131913 [GRCh37] Chr21:21q22.11	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)	copy number gain	not specified [RCV002052723]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NC_000021.8:g.(?_32439271)_(39212984_?)dup	duplication	Amyotrophic lateral sclerosis type 1 [RCV001939883]\|DYRK1A-related intellectual disability syndrome [RCV003107882]\|Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [RCV004579580]\|Immunodeficiency 28 [RCV004579581]	Chr21:32439271..39212984 [GRCh37] Chr21:21q22.11-22.13	uncertain significance
NM_014825.3(URB1):c.916C>G (p.Leu306Val)	single nucleotide variant	not specified [RCV004297235]	Chr21:32372592 [GRCh38] Chr21:33744901 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4615G>A (p.Val1539Ile)	single nucleotide variant	not specified [RCV004315336]	Chr21:32337410 [GRCh38] Chr21:33709719 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5147G>A (p.Arg1716Gln)	single nucleotide variant	not specified [RCV004306024]	Chr21:32324577 [GRCh38] Chr21:33696887 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2189C>T (p.Ala730Val)	single nucleotide variant	not specified [RCV004294239]	Chr21:32354915 [GRCh38] Chr21:33727224 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6458A>G (p.Tyr2153Cys)	single nucleotide variant	not specified [RCV004316420]	Chr21:32316642 [GRCh38] Chr21:33688953 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2241T>G (p.Ile747Met)	single nucleotide variant	not specified [RCV004108359]	Chr21:32354863 [GRCh38] Chr21:33727172 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4591G>A (p.Gly1531Arg)	single nucleotide variant	not specified [RCV004126038]	Chr21:32337434 [GRCh38] Chr21:33709743 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2441C>T (p.Thr814Met)	single nucleotide variant	not specified [RCV004241815]	Chr21:32352882 [GRCh38] Chr21:33725191 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4315A>G (p.Lys1439Glu)	single nucleotide variant	not specified [RCV004147436]	Chr21:32341467 [GRCh38] Chr21:33713776 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3281C>T (p.Pro1094Leu)	single nucleotide variant	not specified [RCV004202788]	Chr21:32347543 [GRCh38] Chr21:33719852 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6110G>A (p.Gly2037Glu)	single nucleotide variant	not specified [RCV004202758]	Chr21:32316990 [GRCh38] Chr21:33689301 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3788G>A (p.Gly1263Glu)	single nucleotide variant	not specified [RCV004141488]	Chr21:32347036 [GRCh38] Chr21:33719345 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.5300T>C (p.Val1767Ala)	single nucleotide variant	not specified [RCV004109047]	Chr21:32322518 [GRCh38] Chr21:33694828 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1315A>T (p.Met439Leu)	single nucleotide variant	not specified [RCV004234834]	Chr21:32366638 [GRCh38] Chr21:33738947 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.125C>T (p.Pro42Leu)	single nucleotide variant	not specified [RCV004084329]	Chr21:32392786 [GRCh38] Chr21:33765095 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3098C>T (p.Pro1033Leu)	single nucleotide variant	not specified [RCV004226153]	Chr21:32347726 [GRCh38] Chr21:33720035 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3883A>C (p.Ile1295Leu)	single nucleotide variant	not specified [RCV004242989]	Chr21:32345561 [GRCh38] Chr21:33717870 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6557G>A (p.Arg2186Gln)	single nucleotide variant	not specified [RCV004150520]	Chr21:32316543 [GRCh38] Chr21:33688854 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.3826C>T (p.Leu1276Phe)	single nucleotide variant	not specified [RCV004093856]	Chr21:32346998 [GRCh38] Chr21:33719307 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.613T>G (p.Phe205Val)	single nucleotide variant	not specified [RCV004100068]	Chr21:32378496 [GRCh38] Chr21:33750805 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5471A>G (p.Asp1824Gly)	single nucleotide variant	not specified [RCV004169993]	Chr21:32321814 [GRCh38] Chr21:33694124 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1511T>G (p.Ile504Ser)	single nucleotide variant	not specified [RCV004171844]	Chr21:32362020 [GRCh38] Chr21:33734329 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5845G>A (p.Val1949Met)	single nucleotide variant	not specified [RCV004222505]	Chr21:32317865 [GRCh38] Chr21:33690176 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2560C>T (p.Arg854Trp)	single nucleotide variant	not specified [RCV004229752]	Chr21:32352763 [GRCh38] Chr21:33725072 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.823G>A (p.Ala275Thr)	single nucleotide variant	not specified [RCV004145724]	Chr21:32373700 [GRCh38] Chr21:33746009 [GRCh37] Chr21:21q22.11	uncertain significance
NM_001379228.1(MRAP):c.400G>A (p.Gly134Arg)	single nucleotide variant	Inborn genetic diseases [RCV002978824]	Chr21:32311877 [GRCh38] Chr21:33684188 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.91A>G (p.Thr31Ala)	single nucleotide variant	not specified [RCV004214062]	Chr21:32392820 [GRCh38] Chr21:33765129 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.905T>G (p.Met302Arg)	single nucleotide variant	not specified [RCV004140655]	Chr21:32372603 [GRCh38] Chr21:33744912 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1991T>C (p.Ile664Thr)	single nucleotide variant	not specified [RCV004158052]	Chr21:32355564 [GRCh38] Chr21:33727873 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2852C>T (p.Pro951Leu)	single nucleotide variant	not specified [RCV004155892]	Chr21:32349464 [GRCh38] Chr21:33721773 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.1028T>G (p.Phe343Cys)	single nucleotide variant	not specified [RCV004135547]	Chr21:32368572 [GRCh38] Chr21:33740881 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4733G>C (p.Arg1578Pro)	single nucleotide variant	not specified [RCV004092203]	Chr21:32334287 [GRCh38] Chr21:33706596 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.647A>G (p.Gln216Arg)	single nucleotide variant	not specified [RCV004204498]	Chr21:32378462 [GRCh38] Chr21:33750771 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3673C>T (p.Arg1225Trp)	single nucleotide variant	not specified [RCV004085857]	Chr21:32347151 [GRCh38] Chr21:33719460 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4429G>A (p.Val1477Met)	single nucleotide variant	not specified [RCV004098258]	Chr21:32338788 [GRCh38] Chr21:33711097 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.2303T>C (p.Ile768Thr)	single nucleotide variant	not specified [RCV004232017]	Chr21:32354046 [GRCh38] Chr21:33726355 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2227C>G (p.Pro743Ala)	single nucleotide variant	not specified [RCV004079546]	Chr21:32354877 [GRCh38] Chr21:33727186 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3787G>C (p.Gly1263Arg)	single nucleotide variant	not specified [RCV004168155]	Chr21:32347037 [GRCh38] Chr21:33719346 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4719T>A (p.His1573Gln)	single nucleotide variant	not specified [RCV004111812]	Chr21:32334301 [GRCh38] Chr21:33706610 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6714C>G (p.His2238Gln)	single nucleotide variant	not specified [RCV004188591]	Chr21:32315020 [GRCh38] Chr21:33687331 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5422C>T (p.Arg1808Cys)	single nucleotide variant	not specified [RCV004091188]	Chr21:32321863 [GRCh38] Chr21:33694173 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1996C>T (p.Arg666Trp)	single nucleotide variant	not specified [RCV004196437]	Chr21:32355559 [GRCh38] Chr21:33727868 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3991C>G (p.Pro1331Ala)	single nucleotide variant	not specified [RCV004072251]	Chr21:32345453 [GRCh38] Chr21:33717762 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1609C>T (p.Pro537Ser)	single nucleotide variant	not specified [RCV004135429]	Chr21:32361922 [GRCh38] Chr21:33734231 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3490A>C (p.Ser1164Arg)	single nucleotide variant	not specified [RCV004232792]	Chr21:32347334 [GRCh38] Chr21:33719643 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2947C>T (p.Arg983Trp)	single nucleotide variant	not specified [RCV004116107]	Chr21:32349369 [GRCh38] Chr21:33721678 [GRCh37] Chr21:21q22.11	uncertain significance
NM_001379228.1(MRAP):c.322G>A (p.Ala108Thr)	single nucleotide variant	Inborn genetic diseases [RCV002878505]	Chr21:32311799 [GRCh38] Chr21:33684110 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3992C>T (p.Pro1331Leu)	single nucleotide variant	not specified [RCV004075175]	Chr21:32345452 [GRCh38] Chr21:33717761 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3485C>G (p.Thr1162Ser)	single nucleotide variant	not specified [RCV004163487]	Chr21:32347339 [GRCh38] Chr21:33719648 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1556A>G (p.Lys519Arg)	single nucleotide variant	not specified [RCV004094181]	Chr21:32361975 [GRCh38] Chr21:33734284 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.2179A>C (p.Met727Leu)	single nucleotide variant	not specified [RCV004184435]	Chr21:32354925 [GRCh38] Chr21:33727234 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5377C>G (p.Arg1793Gly)	single nucleotide variant	not specified [RCV004092779]	Chr21:32321908 [GRCh38] Chr21:33694218 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2506G>A (p.Ala836Thr)	single nucleotide variant	not specified [RCV004216809]	Chr21:32352817 [GRCh38] Chr21:33725126 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4992T>A (p.Asp1664Glu)	single nucleotide variant	not specified [RCV004266622]	Chr21:32325358 [GRCh38] Chr21:33697668 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4646G>A (p.Arg1549Gln)	single nucleotide variant	not specified [RCV004249843]	Chr21:32337133 [GRCh38] Chr21:33709442 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5993T>C (p.Leu1998Pro)	single nucleotide variant	not specified [RCV004272618]	Chr21:32317717 [GRCh38] Chr21:33690028 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6241G>T (p.Asp2081Tyr)	single nucleotide variant	not specified [RCV004273744]	Chr21:32316859 [GRCh38] Chr21:33689170 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.673C>T (p.Pro225Ser)	single nucleotide variant	not specified [RCV004266623]	Chr21:32375475 [GRCh38] Chr21:33747784 [GRCh37] Chr21:21q22.11	uncertain significance
NM_001379228.1(MRAP):c.327C>A (p.Ser109Arg)	single nucleotide variant	Inborn genetic diseases [RCV004496662]	Chr21:32311804 [GRCh38] Chr21:33684115 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.43G>A (p.Ala15Thr)	single nucleotide variant	not specified [RCV004482296]	Chr21:32392868 [GRCh38] Chr21:33765177 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6004A>G (p.Ile2002Val)	single nucleotide variant	not specified [RCV004075852]	Chr21:32317706 [GRCh38] Chr21:33690017 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6262G>A (p.Asp2088Asn)	single nucleotide variant	not specified [RCV004196424]	Chr21:32316838 [GRCh38] Chr21:33689149 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.4783C>T (p.Arg1595Cys)	single nucleotide variant	not specified [RCV004205830]	Chr21:32334237 [GRCh38] Chr21:33706546 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.2539C>G (p.Pro847Ala)	single nucleotide variant	not specified [RCV004177798]	Chr21:32352784 [GRCh38] Chr21:33725093 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.558G>T (p.Arg186Ser)	single nucleotide variant	not specified [RCV004185166]	Chr21:32383431 [GRCh38] Chr21:33755740 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2450T>C (p.Leu817Pro)	single nucleotide variant	not specified [RCV004147088]	Chr21:32352873 [GRCh38] Chr21:33725182 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.696A>G (p.Ile232Met)	single nucleotide variant	not specified [RCV004116288]	Chr21:32375452 [GRCh38] Chr21:33747761 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4031G>A (p.Arg1344His)	single nucleotide variant	not specified [RCV004226426]	Chr21:32345413 [GRCh38] Chr21:33717722 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.367A>G (p.Ile123Val)	single nucleotide variant	not specified [RCV004219505]	Chr21:32384380 [GRCh38] Chr21:33756689 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2910G>T (p.Gln970His)	single nucleotide variant	not specified [RCV004310053]	Chr21:32349406 [GRCh38] Chr21:33721715 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6325G>T (p.Ala2109Ser)	single nucleotide variant	not specified [RCV004268923]	Chr21:32316775 [GRCh38] Chr21:33689086 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5417C>G (p.Ala1806Gly)	single nucleotide variant	not specified [RCV004279036]	Chr21:32321868 [GRCh38] Chr21:33694178 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1275G>T (p.Met425Ile)	single nucleotide variant	not specified [RCV004254284]	Chr21:32366678 [GRCh38] Chr21:33738987 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4855G>A (p.Glu1619Lys)	single nucleotide variant	not specified [RCV004254050]	Chr21:32334165 [GRCh38] Chr21:33706474 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2711G>A (p.Arg904Gln)	single nucleotide variant	not specified [RCV004259253]	Chr21:32350825 [GRCh38] Chr21:33723134 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4730G>T (p.Cys1577Phe)	single nucleotide variant	not specified [RCV004277188]	Chr21:32334290 [GRCh38] Chr21:33706599 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3305C>T (p.Pro1102Leu)	single nucleotide variant	not specified [RCV004263950]	Chr21:32347519 [GRCh38] Chr21:33719828 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.3005A>G (p.Asn1002Ser)	single nucleotide variant	not specified [RCV004248982]	Chr21:32349311 [GRCh38] Chr21:33721620 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.5999C>T (p.Ala2000Val)	single nucleotide variant	not specified [RCV004248350]	Chr21:32317711 [GRCh38] Chr21:33690022 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2893G>A (p.Val965Ile)	single nucleotide variant	not specified [RCV004685304]	Chr21:32349423 [GRCh38] Chr21:33721732 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4801C>T (p.Arg1601Trp)	single nucleotide variant	not specified [RCV004685305]	Chr21:32334219 [GRCh38] Chr21:33706528 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4159G>A (p.Val1387Met)	single nucleotide variant	not specified [RCV004685315]	Chr21:32344668 [GRCh38] Chr21:33716977 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5316G>T (p.Gln1772His)	single nucleotide variant	not specified [RCV004319014]	Chr21:32322502 [GRCh38] Chr21:33694812 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5378G>A (p.Arg1793Gln)	single nucleotide variant	not specified [RCV004346417]	Chr21:32321907 [GRCh38] Chr21:33694217 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4391C>G (p.Ser1464Cys)	single nucleotide variant	not specified [RCV004350475]	Chr21:32338826 [GRCh38] Chr21:33711135 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4440G>A (p.Met1480Ile)	single nucleotide variant	not specified [RCV004341946]	Chr21:32338777 [GRCh38] Chr21:33711086 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3182C>T (p.Pro1061Leu)	single nucleotide variant	not specified [RCV004342937]	Chr21:32347642 [GRCh38] Chr21:33719951 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1568C>A (p.Thr523Asn)	single nucleotide variant	not specified [RCV004347546]	Chr21:32361963 [GRCh38] Chr21:33734272 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4984T>C (p.Phe1662Leu)	single nucleotide variant	not specified [RCV004346947]	Chr21:32325366 [GRCh38] Chr21:33697676 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4109G>A (p.Gly1370Glu)	single nucleotide variant	not specified [RCV004362401]	Chr21:32344718 [GRCh38] Chr21:33717027 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6067C>G (p.Pro2023Ala)	single nucleotide variant	not specified [RCV004336283]	Chr21:32317033 [GRCh38] Chr21:33689344 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2129A>T (p.Asn710Ile)	single nucleotide variant	not specified [RCV004343916]	Chr21:32354975 [GRCh38] Chr21:33727284 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1870G>A (p.Glu624Lys)	single nucleotide variant	not specified [RCV004342791]	Chr21:32357656 [GRCh38] Chr21:33729965 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2105G>A (p.Arg702His)	single nucleotide variant	not specified [RCV004349749]	Chr21:32355450 [GRCh38] Chr21:33727759 [GRCh37] Chr21:21q22.11	uncertain significance
GRCh37/hg19 21q22.11(chr21:33672167-33779575)x1	copy number loss	not provided [RCV003483380]	Chr21:33672167..33779575 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5655C>G (p.Thr1885=)	single nucleotide variant	not provided [RCV003431457]	Chr21:32319354 [GRCh38] Chr21:33691664 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.3714C>T (p.Leu1238=)	single nucleotide variant	not provided [RCV003431458]	Chr21:32347110 [GRCh38] Chr21:33719419 [GRCh37] Chr21:21q22.11	likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	copy number gain	not provided [RCV003485218]	Chr21:15006458..45674637 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	copy number gain	not provided [RCV003485222]	Chr21:33015681..48097372 [GRCh37] Chr21:21q22.11-22.3	pathogenic
NM_014825.3(URB1):c.6255C>T (p.Pro2085=)	single nucleotide variant	not provided [RCV003431456]	Chr21:32316845 [GRCh38] Chr21:33689156 [GRCh37] Chr21:21q22.11	likely benign
NM_001379228.1(MRAP):c.365C>T (p.Pro122Leu)	single nucleotide variant	not provided [RCV003440537]	Chr21:32311842 [GRCh38] Chr21:33684153 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.4602C>T (p.Gly1534=)	single nucleotide variant	not provided [RCV003440538]	Chr21:32337423 [GRCh38] Chr21:33709732 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.2496C>G (p.Leu832=)	single nucleotide variant	not provided [RCV003440539]	Chr21:32352827 [GRCh38] Chr21:33725136 [GRCh37] Chr21:21q22.11	likely benign
NM_001379228.1(MRAP):c.324G>A (p.Ala108=)	single nucleotide variant	not provided [RCV003431455]	Chr21:32311801 [GRCh38] Chr21:33684112 [GRCh37] Chr21:21q22.11	likely benign
NM_001379228.1(MRAP):c.285G>A (p.Pro95=)	single nucleotide variant	not provided [RCV003431454]	Chr21:32311762 [GRCh38] Chr21:33684073 [GRCh37] Chr21:21q22.11	likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	copy number gain	not specified [RCV003986160]	Chr21:15023401..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	copy number gain	not specified [RCV003986149]	Chr21:30685776..48097372 [GRCh37] Chr21:21q21.3-22.3	pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	copy number gain	not specified [RCV003986152]	Chr21:26929299..48097372 [GRCh37] Chr21:21q21.3-22.3	pathogenic
NM_001379228.1(MRAP):c.255C>A (p.Asn85Lys)	single nucleotide variant	Inborn genetic diseases [RCV004496657]	Chr21:32311732 [GRCh38] Chr21:33684043 [GRCh37] Chr21:21q22.11	uncertain significance
NM_001379228.1(MRAP):c.375G>C (p.Gln125His)	single nucleotide variant	Inborn genetic diseases [RCV004496665]	Chr21:32311852 [GRCh38] Chr21:33684163 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2354C>T (p.Ala785Val)	single nucleotide variant	not specified [RCV004482283]	Chr21:32353995 [GRCh38] Chr21:33726304 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4544A>T (p.Glu1515Val)	single nucleotide variant	not specified [RCV004482297]	Chr21:32337481 [GRCh38] Chr21:33709790 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4802G>A (p.Arg1601Gln)	single nucleotide variant	not specified [RCV004482299]	Chr21:32334218 [GRCh38] Chr21:33706527 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5081A>G (p.Tyr1694Cys)	single nucleotide variant	not specified [RCV004482302]	Chr21:32325269 [GRCh38] Chr21:33697579 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5627T>A (p.Ile1876Asn)	single nucleotide variant	not specified [RCV004482305]	Chr21:32319382 [GRCh38] Chr21:33691692 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6005T>C (p.Ile2002Thr)	single nucleotide variant	not specified [RCV004482309]	Chr21:32317705 [GRCh38] Chr21:33690016 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6223C>A (p.Pro2075Thr)	single nucleotide variant	not specified [RCV004482312]	Chr21:32316877 [GRCh38] Chr21:33689188 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6701C>T (p.Thr2234Ile)	single nucleotide variant	not specified [RCV004482314]	Chr21:32315033 [GRCh38] Chr21:33687344 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6715G>A (p.Val2239Ile)	single nucleotide variant	not specified [RCV004482315]	Chr21:32315019 [GRCh38] Chr21:33687330 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.6748C>T (p.Pro2250Ser)	single nucleotide variant	not specified [RCV004482316]	Chr21:32314986 [GRCh38] Chr21:33687297 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.886G>A (p.Glu296Lys)	single nucleotide variant	not specified [RCV004482317]	Chr21:32372622 [GRCh38] Chr21:33744931 [GRCh37] Chr21:21q22.11	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	copy number gain	not provided [RCV004577449]	Chr21:15380398..48100790 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_014825.3(URB1):c.151G>A (p.Ala51Thr)	single nucleotide variant	not specified [RCV004482277]	Chr21:32385676 [GRCh38] Chr21:33757985 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1602C>G (p.Ser534Arg)	single nucleotide variant	not specified [RCV004482278]	Chr21:32361929 [GRCh38] Chr21:33734238 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1720A>G (p.Met574Val)	single nucleotide variant	not specified [RCV004482279]	Chr21:32361043 [GRCh38] Chr21:33733352 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2065A>G (p.Met689Val)	single nucleotide variant	not specified [RCV004482280]	Chr21:32355490 [GRCh38] Chr21:33727799 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.232T>G (p.Cys78Gly)	single nucleotide variant	not specified [RCV004482281]	Chr21:32385595 [GRCh38] Chr21:33757904 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.233G>T (p.Cys78Phe)	single nucleotide variant	not specified [RCV004482282]	Chr21:32385594 [GRCh38] Chr21:33757903 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2510A>G (p.Tyr837Cys)	single nucleotide variant	not specified [RCV004482284]	Chr21:32352813 [GRCh38] Chr21:33725122 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2571A>T (p.Arg857Ser)	single nucleotide variant	not specified [RCV004482285]	Chr21:32352752 [GRCh38] Chr21:33725061 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2603G>A (p.Arg868Gln)	single nucleotide variant	not specified [RCV004482286]	Chr21:32352720 [GRCh38] Chr21:33725029 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2849G>T (p.Gly950Val)	single nucleotide variant	not specified [RCV004482287]	Chr21:32349467 [GRCh38] Chr21:33721776 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2959G>A (p.Asp987Asn)	single nucleotide variant	not specified [RCV004482288]	Chr21:32349357 [GRCh38] Chr21:33721666 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3119T>A (p.Leu1040His)	single nucleotide variant	not specified [RCV004482289]	Chr21:32347705 [GRCh38] Chr21:33720014 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3148G>T (p.Ala1050Ser)	single nucleotide variant	not specified [RCV004482290]	Chr21:32347676 [GRCh38] Chr21:33719985 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3208G>A (p.Gly1070Ser)	single nucleotide variant	not specified [RCV004482291]	Chr21:32347616 [GRCh38] Chr21:33719925 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3304C>T (p.Pro1102Ser)	single nucleotide variant	not specified [RCV004482292]	Chr21:32347520 [GRCh38] Chr21:33719829 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3433G>A (p.Gly1145Arg)	single nucleotide variant	not specified [RCV004482293]	Chr21:32347391 [GRCh38] Chr21:33719700 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3441A>T (p.Glu1147Asp)	single nucleotide variant	not specified [RCV004482294]	Chr21:32347383 [GRCh38] Chr21:33719692 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4360G>A (p.Ala1454Thr)	single nucleotide variant	not specified [RCV004482295]	Chr21:32338857 [GRCh38] Chr21:33711166 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4630A>T (p.Ile1544Phe)	single nucleotide variant	not specified [RCV004482298]	Chr21:32337149 [GRCh38] Chr21:33709458 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4897G>T (p.Asp1633Tyr)	single nucleotide variant	not specified [RCV004482300]	Chr21:32333380 [GRCh38] Chr21:33705689 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4979G>A (p.Arg1660Gln)	single nucleotide variant	not specified [RCV004482301]	Chr21:32325371 [GRCh38] Chr21:33697681 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5420G>A (p.Arg1807Gln)	single nucleotide variant	not specified [RCV004482304]	Chr21:32321865 [GRCh38] Chr21:33694175 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5693G>A (p.Arg1898His)	single nucleotide variant	not specified [RCV004482306]	Chr21:32319316 [GRCh38] Chr21:33691626 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.5728C>T (p.Arg1910Trp)	single nucleotide variant	not specified [RCV004482307]	Chr21:32319281 [GRCh38] Chr21:33691591 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5830G>A (p.Gly1944Arg)	single nucleotide variant	not specified [RCV004482308]	Chr21:32317880 [GRCh38] Chr21:33690191 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6022C>T (p.Arg2008Trp)	single nucleotide variant	not specified [RCV004482310]	Chr21:32317688 [GRCh38] Chr21:33689999 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6074G>A (p.Arg2025Gln)	single nucleotide variant	not specified [RCV004482311]	Chr21:32317026 [GRCh38] Chr21:33689337 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6463C>T (p.Arg2155Trp)	single nucleotide variant	not specified [RCV004482313]	Chr21:32316637 [GRCh38] Chr21:33688948 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.907G>A (p.Val303Met)	single nucleotide variant	not specified [RCV004482318]	Chr21:32372601 [GRCh38] Chr21:33744910 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2669T>A (p.Phe890Tyr)	single nucleotide variant	not specified [RCV004685322]	Chr21:32350867 [GRCh38] Chr21:33723176 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5407G>A (p.Glu1803Lys)	single nucleotide variant	not specified [RCV004685302]	Chr21:32321878 [GRCh38] Chr21:33694188 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5692C>T (p.Arg1898Cys)	single nucleotide variant	not specified [RCV004685303]	Chr21:32319317 [GRCh38] Chr21:33691627 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.345T>A (p.His115Gln)	single nucleotide variant	not specified [RCV004685308]	Chr21:32384402 [GRCh38] Chr21:33756711 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6793G>A (p.Ala2265Thr)	single nucleotide variant	not specified [RCV004685298]	Chr21:32314941 [GRCh38] Chr21:33687252 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3308C>T (p.Pro1103Leu)	single nucleotide variant	not specified [RCV004685314]	Chr21:32347516 [GRCh38] Chr21:33719825 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.6266C>T (p.Ala2089Val)	single nucleotide variant	not specified [RCV004685299]	Chr21:32316834 [GRCh38] Chr21:33689145 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.3040C>A (p.Leu1014Ile)	single nucleotide variant	not specified [RCV004685301]	Chr21:32347784 [GRCh38] Chr21:33720093 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3818A>G (p.His1273Arg)	single nucleotide variant	not specified [RCV004685316]	Chr21:32347006 [GRCh38] Chr21:33719315 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6530T>C (p.Met2177Thr)	single nucleotide variant	not specified [RCV004685321]	Chr21:32316570 [GRCh38] Chr21:33688881 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.790C>T (p.Arg264Cys)	single nucleotide variant	not specified [RCV004876548]	Chr21:32373733 [GRCh38] Chr21:33746042 [GRCh37] Chr21:21q22.11	uncertain significance
NM_001379228.1(MRAP):c.242G>T (p.Ser81Ile)	single nucleotide variant	MRAP-related disorder [RCV004755564]	Chr21:32311719 [GRCh38] Chr21:33684030 [GRCh37] Chr21:21q22.11	uncertain significance
NM_206898.2(MRAP):c.235del (p.Ser79fs)	deletion	MRAP-related disorder [RCV004755542]	Chr21:32314578 [GRCh38] Chr21:33686889 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3176G>A (p.Ser1059Asn)	single nucleotide variant	not specified [RCV004887952]	Chr21:32347648 [GRCh38] Chr21:33719957 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.626G>C (p.Gly209Ala)	single nucleotide variant	not specified [RCV004887955]	Chr21:32378483 [GRCh38] Chr21:33750792 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4548G>A (p.Met1516Ile)	single nucleotide variant	not specified [RCV004887956]	Chr21:32337477 [GRCh38] Chr21:33709786 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5858G>A (p.Arg1953Gln)	single nucleotide variant	not specified [RCV004887959]	Chr21:32317852 [GRCh38] Chr21:33690163 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3848A>G (p.His1283Arg)	single nucleotide variant	not specified [RCV004887962]	Chr21:32346976 [GRCh38] Chr21:33719285 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4930C>T (p.Leu1644Phe)	single nucleotide variant	not specified [RCV004887957]	Chr21:32333347 [GRCh38] Chr21:33705656 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4321C>T (p.Arg1441Trp)	single nucleotide variant	not specified [RCV004887960]	Chr21:32338896 [GRCh38] Chr21:33711205 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.242T>C (p.Ile81Thr)	single nucleotide variant	not specified [RCV004887961]	Chr21:32385585 [GRCh38] Chr21:33757894 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4838G>A (p.Arg1613Gln)	single nucleotide variant	not specified [RCV004887954]	Chr21:32334182 [GRCh38] Chr21:33706491 [GRCh37] Chr21:21q22.11	uncertain significance
GRCh37/hg19 21q22.11(chr21:32925452-35162911)x1	copy number loss	not provided [RCV004819398]	Chr21:32925452..35162911 [GRCh37] Chr21:21q22.11	pathogenic
GRCh37/hg19 21q22.11(chr21:32949556-34874496)x1	copy number loss	not provided [RCV004819911]	Chr21:32949556..34874496 [GRCh37] Chr21:21q22.11	uncertain significance
NM_001379228.1(MRAP):c.323C>T (p.Ala108Val)	single nucleotide variant	Inborn genetic diseases [RCV004952319]	Chr21:32311800 [GRCh38] Chr21:33684111 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5604G>T (p.Glu1868Asp)	single nucleotide variant	not specified [RCV004876564]	Chr21:32319405 [GRCh38] Chr21:33691715 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2871C>G (p.Phe957Leu)	single nucleotide variant	not specified [RCV004876567]	Chr21:32349445 [GRCh38] Chr21:33721754 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.2582T>A (p.Leu861His)	single nucleotide variant	not specified [RCV004876568]	Chr21:32352741 [GRCh38] Chr21:33725050 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2961C>A (p.Asp987Glu)	single nucleotide variant	not specified [RCV004876569]	Chr21:32349355 [GRCh38] Chr21:33721664 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.855T>G (p.Asp285Glu)	single nucleotide variant	not specified [RCV004876538]	Chr21:32373668 [GRCh38] Chr21:33745977 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.985T>G (p.Leu329Val)	single nucleotide variant	not specified [RCV004876539]	Chr21:32372523 [GRCh38] Chr21:33744832 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6032T>C (p.Met2011Thr)	single nucleotide variant	not specified [RCV004876540]	Chr21:32317678 [GRCh38] Chr21:33689989 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4711G>A (p.Val1571Met)	single nucleotide variant	not specified [RCV004876541]	Chr21:32334309 [GRCh38] Chr21:33706618 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.688T>C (p.Ser230Pro)	single nucleotide variant	not specified [RCV004876542]	Chr21:32375460 [GRCh38] Chr21:33747769 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6749C>T (p.Pro2250Leu)	single nucleotide variant	not specified [RCV004876543]	Chr21:32314985 [GRCh38] Chr21:33687296 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5726A>G (p.Lys1909Arg)	single nucleotide variant	not specified [RCV004876544]	Chr21:32319283 [GRCh38] Chr21:33691593 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.3598C>T (p.Leu1200Phe)	single nucleotide variant	not specified [RCV004876545]	Chr21:32347226 [GRCh38] Chr21:33719535 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.4535C>T (p.Thr1512Met)	single nucleotide variant	not specified [RCV004876547]	Chr21:32337490 [GRCh38] Chr21:33709799 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5480C>T (p.Ala1827Val)	single nucleotide variant	not specified [RCV004876549]	Chr21:32321805 [GRCh38] Chr21:33694115 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4363G>A (p.Val1455Ile)	single nucleotide variant	not specified [RCV004876550]	Chr21:32338854 [GRCh38] Chr21:33711163 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.194A>G (p.Tyr65Cys)	single nucleotide variant	not specified [RCV004876551]	Chr21:32385633 [GRCh38] Chr21:33757942 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4250C>T (p.Ala1417Val)	single nucleotide variant	not specified [RCV004876552]	Chr21:32344577 [GRCh38] Chr21:33716886 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1106A>T (p.Asp369Val)	single nucleotide variant	not specified [RCV004876553]	Chr21:32368494 [GRCh38] Chr21:33740803 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.238G>C (p.Glu80Gln)	single nucleotide variant	not specified [RCV004876554]	Chr21:32385589 [GRCh38] Chr21:33757898 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.485C>T (p.Pro162Leu)	single nucleotide variant	not specified [RCV004876555]	Chr21:32383504 [GRCh38] Chr21:33755813 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5195T>A (p.Leu1732His)	single nucleotide variant	not specified [RCV004876556]	Chr21:32324529 [GRCh38] Chr21:33696839 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1211A>C (p.Gln404Pro)	single nucleotide variant	not specified [RCV004876557]	Chr21:32366742 [GRCh38] Chr21:33739051 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1361C>G (p.Thr454Arg)	single nucleotide variant	not specified [RCV004876558]	Chr21:32363304 [GRCh38] Chr21:33735613 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6064A>G (p.Met2022Val)	single nucleotide variant	not specified [RCV004876559]	Chr21:32317036 [GRCh38] Chr21:33689347 [GRCh37] Chr21:21q22.11	likely benign
NM_014825.3(URB1):c.4268A>G (p.Asn1423Ser)	single nucleotide variant	not specified [RCV004876560]	Chr21:32341514 [GRCh38] Chr21:33713823 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2633G>T (p.Ser878Ile)	single nucleotide variant	not specified [RCV004876561]	Chr21:32350903 [GRCh38] Chr21:33723212 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2728G>A (p.Val910Met)	single nucleotide variant	not specified [RCV004876563]	Chr21:32350808 [GRCh38] Chr21:33723117 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.4001G>A (p.Arg1334Gln)	single nucleotide variant	not specified [RCV004876565]	Chr21:32345443 [GRCh38] Chr21:33717752 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.2909A>C (p.Gln970Pro)	single nucleotide variant	not specified [RCV004876566]	Chr21:32349407 [GRCh38] Chr21:33721716 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.1711C>A (p.His571Asn)	single nucleotide variant	not specified [RCV004876570]	Chr21:32361052 [GRCh38] Chr21:33733361 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5381A>G (p.Gln1794Arg)	single nucleotide variant	not specified [RCV004876574]	Chr21:32321904 [GRCh38] Chr21:33694214 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.5462C>G (p.Pro1821Arg)	single nucleotide variant	not specified [RCV004876572]	Chr21:32321823 [GRCh38] Chr21:33694133 [GRCh37] Chr21:21q22.11	uncertain significance
NM_014825.3(URB1):c.6326C>T (p.Ala2109Val)	single nucleotide variant	not specified [RCV004876573]	Chr21:32316774 [GRCh38] Chr21:33689085 [GRCh37] Chr21:21q22.11	uncertain significance

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
4142399	Aec1_m	autoimmune exocrinopathy 1 (mouse)			Not determined			7586174	102690034	Mouse
26884378	Skwq6_m	skull length QTL 6, 10 week (mouse)					3	51907421	102307316	Mouse
1301971	Cia5_m	collagen induced arthritis QTL 5 (mouse)			Not determined		3	66046658	100046795	Mouse
1301392	Eae3_m	susceptibility to experimental allergic encephalomyelitis 3 (mouse)			Not determined		3	79548730	113548837	Mouse
1301904	Iba2_m	induction of brown adipocytes 2 (mouse)			Not determined		3	82147043	116147184	Mouse
26884382	Bzwq1_m	bi-zygomatic width QTL 1, 5 week (mouse)					3	52207421	137205761	Mouse
11041900	Lmr11a_m	leishmaniasis resistance 11a (mouse)					3	83463991	117464137	Mouse
26884380	Skwq1_m	skull length QTL 1, 5 week (mouse)					3	43954435	101607316	Mouse
14746984	Manh54_m	mandible shape 54 (mouse)					3	85289152	119289152	Mouse
12738440	Twq3_m	testis weight QTL 3 (mouse)					3	87228015	121228015	Mouse
25314313	Syncl1_m	synaptonemal complex length 1 (mouse)					3	67907333	128393649	Mouse
1301272	Cfsw1_m	cystic fibrosis survival to weaning 1 (mouse)			Not determined		3	83882912	117883044	Mouse
1301791	Char4_m	P. chabaudi malaria resistance QTL 4 (mouse)			Not determined		3	69625509	100655290	Mouse
11049572	Lmr11c_m	leishmaniasis resistance 11c (mouse)					3	72139967	106140094	Mouse
26884436	Zlq3_m	zygomatic length QTL 3, 10 week (mouse)					3	3265060	142405761	Mouse
26884427	Cvht4_m	cranial vault height 4, 10 week (mouse)					3	16054164	109707316	Mouse
4141294	Bmd24_m	bone mineral density 24 (mouse)			Not determined		3	61740061	95740241	Mouse
10043981	Cia5a_m	collagen induced arthritis QTL 5a (mouse)			Not determined		3	87170454	89140094	Mouse
1301705	Sles3_m	systemic lupus erythmatosus suppressor 3 (mouse)			Not determined		3	37174862	143353183	Mouse
13207570	Tcq12_m	total cholesterol QTL 12 (mouse)					3	16504164	130163649	Mouse
1357583	Sle18_m	systematic lupus erythematosus susceptibility 18 (mouse)			Not determined		3	87208904	125316236	Mouse
26884422	Cvht7_m	cranial vault height 7, 16 week (mouse)					3	28954149	118893649	Mouse
1300595	Tmevd2_m	Theiler's murine encephalomyelitis virus induced demyelinating disease susceptibility 2 (mouse)			Not determined		3	75463302	109463549	Mouse
11251721	Ewc3_m	ethanol withdrawal and consumption 3 (mouse)					3	69568554	103568554	Mouse
1300982	Lmr11_m	leishmaniasis resistance 11 (mouse)			Not determined		3	72139967	106140094	Mouse
12880419	V125Dq4_m	vitamin D active form serum level QTL 4 (mouse)					3	58907307	92907307	Mouse
1301947	Pcfm3_m	periosteal circumference and femur length 3 (mouse)			Not determined		3	81084652	115084797	Mouse
4142099	Cq3_m	cholesterol QTL 3 (mouse)			Not determined		3	84888918	118889067	Mouse
11039512	Ltpr3b_m	Leishmania tropica response 3b (mouse)					3	83463991	117464137	Mouse
11039519	Ltpr3_m	Leishmania tropica response 3 (mouse)					3	56704102	100464137	Mouse
1302056	Orgwq4_m	organ weight QTL 4 (mouse)			Not determined		3	30067588	147304689	Mouse
11039507	Ltpr3g_m	Leishmania tropica response 3g (mouse)					3	83463991	117464137	Mouse
11039508	Ltpr3f_m	Leishmania tropica response 3f (mouse)					3	83463991	117464137	Mouse
1301422	Sle11_m	systematic lupus erythematosus susceptibility 11 (mouse)			Not determined		3	70208904	104209042	Mouse
11039509	Ltpr3e_m	Leishmania tropica response 3e (mouse)					3	83463991	117464137	Mouse
11039510	Ltpr3d_m	Leishmania tropica response 3d (mouse)					3	83463991	117464137	Mouse
13208566	Bmiq5_m	body mass index QTL 5 (mouse)					3	40954435	115793649	Mouse
11039511	Ltpr3c_m	Leishmania tropica response 3c (mouse)					3	83463991	117464137	Mouse

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.


RefSeq Transcripts	NG_150551	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC139241	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Database	Acc Id	Source(s)
NCBI Gene	LOC128924802	ENTREZGENE
PhenoGen	LOC128924802	PhenoGen

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2023-10-10	LOC128924802	STARR-positive B cell enhancer ABC_E6068	LOC128924802	CapStarr-seq enhancer MGSCv37_chr3:87333628-87333811	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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