ZNF341 (zinc finger protein 341) - Rat Genome Database

Name: ZNF341
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: ZNF341 (zinc finger protein 341) Homo sapiens

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Symbol:

ZNF341

Name:

zinc finger protein 341

RGD ID:

1346802

HGNC Page

HGNC:15992

Description:

Enables DNA binding activity and DNA-binding transcription activator activity. Predicted to be involved in regulation of DNA-templated transcription. Located in nucleus. Implicated in hyper IgE recurrent infection syndrome 3.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

HIES3

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Zfp341 (zinc finger protein 341)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Zfp341 (zinc finger protein 341)	HGNC	Ensembl, HomoloGene, NCBI, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Znf341 (zinc finger protein 341)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ZNF341 (zinc finger protein 341)	NCBI	Ortholog
Canis lupus familiaris (dog):	ZNF341 (zinc finger protein 341)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Znf341 (zinc finger protein 341)	NCBI	Ortholog
Sus scrofa (pig):	ZNF341 (zinc finger protein 341)	HGNC	EggNOG, Ensembl, NCBI, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	ZNF341 (zinc finger protein 341)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Znf341 (zinc finger protein 341)	NCBI	Ortholog
Alliance orthologs ³
Mus musculus (house mouse):	Zfp341 (zinc finger protein 341)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Zfp341 (zinc finger protein 341)	Alliance	DIOPT (Ensembl Compara\|HGNC\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	znf341 (zinc finger protein 341)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	znf341	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	znf341.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

AC105917.1

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	20	33,731,996 - 33,792,269 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	33,731,657 - 33,792,269 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	32,319,802 - 32,380,075 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	31,783,469 - 31,843,736 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	31,783,468 - 31,843,736	NCBI
Celera	20	29,072,525 - 29,132,795 (+)	NCBI		Celera
Cytogenetic Map	20	q11.22	NCBI
HuRef	20	29,105,231 - 29,164,875 (+)	NCBI		HuRef
CHM1_1	20	32,221,188 - 32,281,398 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	35,458,351 - 35,518,627 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

glutathione synthetase deficiency (IAGP)

glutatione synthetase deficiency with 5-oxoprolinuria (IAGP)

hyper IgE recurrent infection syndrome 3 (IAGP)

hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (IAGP)

long QT syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

aflatoxin B1 (ISO)

Aflatoxin B2 alpha (EXP)

benzo[e]pyrene (EXP)

beta-lapachone (EXP)

bisphenol A (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

cannabidiol (EXP)

disodium selenite (EXP)

dorsomorphin (EXP)

ethanol (ISO)

methapyrilene (EXP)

methyl methanesulfonate (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

sunitinib (EXP)

titanium dioxide (ISO)

triphenyl phosphate (EXP)

urethane (EXP)

valproic acid (EXP)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

positive regulation of DNA-templated transcription (IEA)

regulation of DNA-templated transcription (IBA)

regulation of transcription by RNA polymerase II (IEA)

Cellular Component

nucleus (IDA,IEA)

Molecular Function

DNA binding (IDA,IEA)

DNA-binding transcription activator activity (IDA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA)

metal ion binding (IEA)

protein binding (IPI)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormality of the dentition (IAGP)

Alopecia (IAGP)

Atopic dermatitis (IAGP)

Atrial septal defect (IAGP)

Autosomal recessive inheritance (IAGP)

Bronchiectasis (IAGP)

Chronic mucocutaneous candidiasis (IAGP)

Chronic oral candidiasis (IAGP)

Cutaneous abscess (IAGP)

Decreased circulating IgA concentration (IAGP)

Dry skin (IAGP)

Eczematoid dermatitis (IAGP)

Eosinophilia (IAGP)

High palate (IAGP)

Increased circulating IgE concentration (IAGP)

Intellectual disability, mild (IAGP)

Joint hypermobility (IAGP)

Methicillin-resistant Staphylococcus aureus infection (IAGP)

Micrognathia (IAGP)

Osteomyelitis (IAGP)

Prolonged QT interval (IAGP)

Pruritus (IAGP)

Pulmonic stenosis (IAGP)

Recurrent infections (IAGP)

Recurrent otitis media (IAGP)

Recurrent pneumonia (IAGP)

Recurrent respiratory infections (IAGP)

Recurrent sinusitis (IAGP)

Recurrent skin infections (IAGP)

Reduced glutathione synthetase level (IAGP)

Spinal canal stenosis (IAGP)

Sterile abscess (IAGP)

Wide nose (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11780052	PMID:12477932	PMID:14702039	PMID:15231748	PMID:16344560	PMID:18029348	PMID:20881960	PMID:21873635	PMID:24705354	PMID:24722188	PMID:25416956	PMID:26871637
PMID:29907690	PMID:29907691	PMID:30021884	PMID:32296183	PMID:32814053	PMID:33961781	PMID:35185921	PMID:35511492	PMID:35748872	PMID:36724073	PMID:37080116

Genomics

Comparative Map Data

ZNF341
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	33,731,996 - 33,792,269 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	33,731,657 - 33,792,269 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	32,319,802 - 32,380,075 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	31,783,469 - 31,843,736 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	31,783,468 - 31,843,736	NCBI
Celera	20	29,072,525 - 29,132,795 (+)	NCBI		Celera
Cytogenetic Map	20	q11.22	NCBI
HuRef	20	29,105,231 - 29,164,875 (+)	NCBI		HuRef
CHM1_1	20	32,221,188 - 32,281,398 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	35,458,351 - 35,518,627 (+)	NCBI		T2T-CHM13v2.0

Zfp341
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	154,453,736 - 154,488,741 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	154,455,217 - 154,488,741 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	154,611,816 - 154,646,821 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	154,613,297 - 154,646,821 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	154,439,104 - 154,472,553 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	154,304,809 - 154,338,258 (+)	NCBI		MGSCv36	mm8
MGSCv36	2	155,440,850 - 155,474,283 (+)	NCBI		MGSCv36	mm8
Celera	2	160,541,217 - 160,566,229 (+)	NCBI		Celera
Cytogenetic Map	2	H1	NCBI
cM Map	2	76.79	NCBI

Zfp341
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	163,582,937 - 163,616,448 (+)	NCBI		GRCr8
mRatBN7.2	3	143,122,699 - 143,156,250 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	143,119,093 - 143,156,249 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	3	150,114,853 - 150,172,425 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	150,135,821 - 150,153,775 (+)	NCBI	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	156,511,320 - 156,544,251 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	145,086,839 - 145,105,846 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	3	141,855,266 - 141,888,862 (+)	NCBI		Celera
Cytogenetic Map	3	q41	NCBI

Znf341
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955422	27,537,917 - 27,583,711 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955422	27,537,293 - 27,583,713 (-)	NCBI	ChiLan1.0	ChiLan1.0

ZNF341
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	21	39,418,445 - 39,483,467 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	20	39,411,547 - 39,476,569 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	20	30,018,348 - 30,079,721 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	20	31,166,374 - 31,218,282 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	31,164,597 - 31,218,282 (+)	Ensembl	panpan1.1		panPan2

ZNF341
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	22,937,990 - 22,984,646 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	24	22,938,093 - 22,982,367 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	22,583,240 - 22,629,894 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	23,624,867 - 23,671,552 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	24	23,624,950 - 23,670,551 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	24	22,917,225 - 22,963,979 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	24	23,010,745 - 23,057,362 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	24	23,488,954 - 23,494,847 (+)	NCBI		UU_Cfam_GSD_1.0
UU_Cfam_GSD_1.0	24	23,441,838 - 23,462,455 (+)	NCBI		UU_Cfam_GSD_1.0

Znf341
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	171,894,730 - 171,933,200 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936561	6,816,328 - 6,851,452 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936561	6,816,349 - 6,851,609 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ZNF341
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	37,224,048 - 37,280,118 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	37,223,959 - 37,272,263 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	42,186,197 - 42,200,711 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ZNF341
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	2	38,020,915 - 38,081,559 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	38,028,765 - 38,080,814 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666050	88,799,998 - 88,860,135 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Znf341
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624842	5,519,035 - 5,565,613 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624842	5,518,327 - 5,565,661 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ZNF341
536 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001282933.2(ZNF341):c.1571C>A (p.Ser524Tyr)	single nucleotide variant	not provided [RCV001302535]	Chr20:33770241 [GRCh38] Chr20:32358047 [GRCh37] Chr20:20q11.22	uncertain significance
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	copy number gain	See cases [RCV000052999]	Chr20:9811433..39316956 [GRCh38] Chr20:9792081..37945599 [GRCh37] Chr20:9740081..37379013 [NCBI36] Chr20:20p12.2-q12	pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	copy number loss	See cases [RCV000135440]	Chr20:33432363..36821881 [GRCh38] Chr20:32020169..35450284 [GRCh37] Chr20:31483830..34883698 [NCBI36] Chr20:20q11.21-11.23	pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	copy number gain	See cases [RCV000141833]	Chr20:32062768..35906606 [GRCh38] Chr20:30650571..34494528 [GRCh37] Chr20:30114232..33957942 [NCBI36] Chr20:20q11.21-11.23	pathogenic
NM_001282933.2(ZNF341):c.2164C>T (p.Arg722Cys)	single nucleotide variant	Long QT syndrome [RCV000190175]\|not provided [RCV002054244]	Chr20:33791116 [GRCh38] Chr20:32378922 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.583C>T (p.Gln195Ter)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV000736039]	Chr20:33753265 [GRCh38] Chr20:32341071 [GRCh37] Chr20:20q11.22	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	copy number gain	See cases [RCV000510832]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_001282933.2(ZNF341):c.2344G>A (p.Gly782Arg)	single nucleotide variant	not specified [RCV004318061]	Chr20:33791296 [GRCh38] Chr20:32379102 [GRCh37] Chr20:20q11.22	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	copy number gain	See cases [RCV000512450]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
NC_000020.10:g.(?_31996293)_(33761838_?)del	deletion	Long QT syndrome [RCV000708204]	Chr20:31996293..33761838 [GRCh37] Chr20:20q11.21-11.22	uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	copy number gain	See cases [RCV000135859]	Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33	pathogenic
NC_000020.10:g.(?_31996293)_(33338342_?)del	deletion	Long QT syndrome [RCV000708495]	Chr20:31996293..33338342 [GRCh37] Chr20:20q11.21-11.22	uncertain significance
NM_001282933.2(ZNF341):c.904C>T (p.Arg302Ter)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV000736035]\|not provided [RCV002535441]	Chr20:33757310 [GRCh38] Chr20:32345116 [GRCh37] Chr20:20q11.22	pathogenic
NM_001282933.2(ZNF341):c.1647C>G (p.Tyr549Ter)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV000736038]	Chr20:33781315 [GRCh38] Chr20:32369121 [GRCh37] Chr20:20q11.22	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3	copy number gain	not provided [RCV000741058]	Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3	copy number gain	not provided [RCV000741059]	Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3	copy number gain	not provided [RCV000741057]	Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	copy number gain	not provided [RCV000849735]	Chr20:29833608..35087952 [GRCh37] Chr20:20q11.21-11.23	pathogenic
NM_001282933.2(ZNF341):c.886C>G (p.Pro296Ala)	single nucleotide variant	not specified [RCV004307027]	Chr20:33757292 [GRCh38] Chr20:32345098 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1083del (p.Lys362fs)	deletion	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV000736037]	Chr20:33761916 [GRCh38] Chr20:32349722 [GRCh37] Chr20:20q11.22	pathogenic
NM_001282933.2(ZNF341):c.1156C>T (p.Arg386Ter)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV000736036]	Chr20:33761989 [GRCh38] Chr20:32349795 [GRCh37] Chr20:20q11.22	pathogenic
NM_001282933.2(ZNF341):c.30G>A (p.Glu10=)	single nucleotide variant	not provided [RCV003106954]	Chr20:33732051 [GRCh38] Chr20:32319857 [GRCh37] Chr20:20q11.22	uncertain significance
GRCh37/hg19 20q11.21-11.22(chr20:31966407-33169058)x3	copy number gain	not provided [RCV001007091]	Chr20:31966407..33169058 [GRCh37] Chr20:20q11.21-11.22	uncertain significance
NM_001282933.2(ZNF341):c.1558G>A (p.Val520Met)	single nucleotide variant	not provided [RCV002002143]	Chr20:33770228 [GRCh38] Chr20:32358034 [GRCh37] Chr20:20q11.22	uncertain significance
NC_000020.10:g.(?_31996293)_(33761838_?)del	deletion	Long QT syndrome [RCV001300227]	Chr20:31996293..33761838 [GRCh37] Chr20:20q11.21-11.22	uncertain significance
NM_001282933.2(ZNF341):c.119C>T (p.Ala40Val)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV001332714]\|not provided [RCV001865765]\|not specified [RCV004035747]	Chr20:33740989 [GRCh38] Chr20:32328795 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.838G>A (p.Ala280Thr)	single nucleotide variant	not provided [RCV001342489]	Chr20:33757244 [GRCh38] Chr20:32345050 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.866C>T (p.Thr289Met)	single nucleotide variant	not provided [RCV001295867]	Chr20:33757272 [GRCh38] Chr20:32345078 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2337_2338del (p.Ala781fs)	deletion	not provided [RCV001369009]	Chr20:33791289..33791290 [GRCh38] Chr20:32379095..32379096 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2390C>T (p.Pro797Leu)	single nucleotide variant	not provided [RCV001356485]	Chr20:33791342 [GRCh38] Chr20:32379148 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2560G>A (p.Glu854Lys)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV002499613]\|not provided [RCV001316833]	Chr20:33791512 [GRCh38] Chr20:32379318 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.910G>A (p.Ala304Thr)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV001332715]\|not provided [RCV001871838]\|not specified [RCV004035748]	Chr20:33757316 [GRCh38] Chr20:32345122 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.200C>T (p.Ala67Val)	single nucleotide variant	not provided [RCV001368975]	Chr20:33745160 [GRCh38] Chr20:32332966 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2117C>T (p.Thr706Met)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV002070136]\|ZNF341-related disorder [RCV003938615]\|not provided [RCV001310460]	Chr20:33791069 [GRCh38] Chr20:32378875 [GRCh37] Chr20:20q11.22	benign\|likely benign\|uncertain significance
NM_001282933.2(ZNF341):c.1452C>T (p.Phe484=)	single nucleotide variant	not provided [RCV001481510]	Chr20:33770122 [GRCh38] Chr20:32357928 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1311G>A (p.Gln437=)	single nucleotide variant	not provided [RCV001486959]	Chr20:33766939 [GRCh38] Chr20:32354745 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.244G>A (p.Ala82Thr)	single nucleotide variant	ZNF341-related disorder [RCV003948512]\|not provided [RCV001513982]	Chr20:33745204 [GRCh38] Chr20:32333010 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.2111C>T (p.Ala704Val)	single nucleotide variant	not provided [RCV001492423]	Chr20:33791063 [GRCh38] Chr20:32378869 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2437A>C (p.Thr813Pro)	single nucleotide variant	ZNF341-related disorder [RCV003931047]\|not provided [RCV001510829]	Chr20:33791389 [GRCh38] Chr20:32379195 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.1448C>T (p.Thr483Met)	single nucleotide variant	ZNF341-related disorder [RCV003948492]\|not provided [RCV001510649]	Chr20:33770118 [GRCh38] Chr20:32357924 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.1157G>A (p.Arg386Gln)	single nucleotide variant	ZNF341-related disorder [RCV003921112]\|not provided [RCV001515028]	Chr20:33761990 [GRCh38] Chr20:32349796 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.1622+6T>C	single nucleotide variant	ZNF341-related disorder [RCV003966105]\|not provided [RCV001517795]	Chr20:33770298 [GRCh38] Chr20:32358104 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.2505T>C (p.Ala835=)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV002243268]\|ZNF341-related disorder [RCV003980511]\|not provided [RCV001513230]\|not specified [RCV003399276]	Chr20:33791457 [GRCh38] Chr20:32379263 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.340-20C>G	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV002495821]\|not provided [RCV001518989]	Chr20:33748903 [GRCh38] Chr20:32336709 [GRCh37] Chr20:20q11.22	benign\|likely benign
NM_001282933.2(ZNF341):c.2088C>T (p.Ala696=)	single nucleotide variant	not provided [RCV001481853]	Chr20:33791040 [GRCh38] Chr20:32378846 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1623-13T>C	single nucleotide variant	not provided [RCV001447340]	Chr20:33781278 [GRCh38] Chr20:32369084 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2036-14C>T	single nucleotide variant	not provided [RCV001410731]	Chr20:33790974 [GRCh38] Chr20:32378780 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1764C>T (p.His588=)	single nucleotide variant	not provided [RCV001490106]	Chr20:33783776 [GRCh38] Chr20:32371582 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2036-9G>A	single nucleotide variant	ZNF341-related disorder [RCV003956196]\|not provided [RCV001519640]	Chr20:33790979 [GRCh38] Chr20:32378785 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.1932C>T (p.His644=)	single nucleotide variant	ZNF341-related disorder [RCV003921155]\|not provided [RCV001520216]	Chr20:33788942 [GRCh38] Chr20:32376748 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.1299G>A (p.Pro433=)	single nucleotide variant	not provided [RCV001455118]	Chr20:33766927 [GRCh38] Chr20:32354733 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1035C>T (p.Thr345=)	single nucleotide variant	ZNF341-related disorder [RCV003966067]\|not provided [RCV001511924]	Chr20:33761868 [GRCh38] Chr20:32349674 [GRCh37] Chr20:20q11.22	benign\|likely benign
NM_001282933.2(ZNF341):c.1414-13G>A	single nucleotide variant	not provided [RCV001500431]	Chr20:33770071 [GRCh38] Chr20:32357877 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2163C>A (p.Ser721=)	single nucleotide variant	not provided [RCV001517481]	Chr20:33791115 [GRCh38] Chr20:32378921 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.479C>T (p.Pro160Leu)	single nucleotide variant	ZNF341-related disorder [RCV003908874]\|not provided [RCV001522113]	Chr20:33749062 [GRCh38] Chr20:32336868 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.1853-17G>A	single nucleotide variant	not provided [RCV001513212]	Chr20:33788846 [GRCh38] Chr20:32376652 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.553C>T (p.Pro185Ser)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV002501803]\|ZNF341-related disorder [RCV003931105]\|not provided [RCV001518217]	Chr20:33753235 [GRCh38] Chr20:32341041 [GRCh37] Chr20:20q11.22	benign\|likely benign
NM_001282933.2(ZNF341):c.1622+13T>C	single nucleotide variant	not provided [RCV001513074]	Chr20:33770305 [GRCh38] Chr20:32358111 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.150G>T (p.Glu50Asp)	single nucleotide variant	ZNF341-related disorder [RCV003948526]\|not provided [RCV001516182]	Chr20:33745110 [GRCh38] Chr20:32332916 [GRCh37] Chr20:20q11.22	benign\|likely benign
NM_001282933.2(ZNF341):c.489+16C>T	single nucleotide variant	not provided [RCV001512376]	Chr20:33749088 [GRCh38] Chr20:32336894 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.366G>A (p.Pro122=)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV002488338]\|ZNF341-related disorder [RCV003921151]\|not provided [RCV001519706]	Chr20:33748949 [GRCh38] Chr20:32336755 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.1542G>A (p.Ser514=)	single nucleotide variant	ZNF341-related disorder [RCV003921164]\|not provided [RCV001521263]	Chr20:33770212 [GRCh38] Chr20:32358018 [GRCh37] Chr20:20q11.22	benign\|likely benign
NM_001282933.2(ZNF341):c.672T>C (p.Ala224=)	single nucleotide variant	ZNF341-related disorder [RCV003940923]\|not provided [RCV001515241]	Chr20:33753354 [GRCh38] Chr20:32341160 [GRCh37] Chr20:20q11.22	benign\|likely benign
NM_001282933.2(ZNF341):c.2148C>T (p.Cys716=)	single nucleotide variant	ZNF341-related disorder [RCV003908852]\|not provided [RCV001517800]	Chr20:33791100 [GRCh38] Chr20:32378906 [GRCh37] Chr20:20q11.22	benign\|likely benign
NM_001282933.2(ZNF341):c.1929C>T (p.Ile643=)	single nucleotide variant	ZNF341-related disorder [RCV003983956]\|not provided [RCV001522017]	Chr20:33788939 [GRCh38] Chr20:33788939..33788940 [GRCh38] Chr20:32376745 [GRCh37] Chr20:32376745..32376746 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.853G>A (p.Ala285Thr)	single nucleotide variant	not provided [RCV001468020]	Chr20:33757259 [GRCh38] Chr20:32345065 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2519C>T (p.Pro840Leu)	single nucleotide variant	not provided [RCV003106909]	Chr20:33791471 [GRCh38] Chr20:32379277 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.31G>A (p.Gly11Arg)	single nucleotide variant	not provided [RCV003108624]	Chr20:33732052 [GRCh38] Chr20:32319858 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1640A>G (p.Asn547Ser)	single nucleotide variant	not provided [RCV001730274]	Chr20:33781308 [GRCh38] Chr20:32369114 [GRCh37] Chr20:20q11.22	benign\|likely benign
NM_001282933.2(ZNF341):c.1413+1del	deletion	not provided [RCV001767466]	Chr20:33767041 [GRCh38] Chr20:32354847 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.572C>T (p.Pro191Leu)	single nucleotide variant	not provided [RCV001949788]	Chr20:33753254 [GRCh38] Chr20:32341060 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2493G>A (p.Ala831=)	single nucleotide variant	not provided [RCV001912106]	Chr20:33791445 [GRCh38] Chr20:32379251 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
NM_001282933.2(ZNF341):c.2121C>T (p.Gly707=)	single nucleotide variant	not provided [RCV002008237]	Chr20:33791073 [GRCh38] Chr20:32378879 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1525G>A (p.Gly509Ser)	single nucleotide variant	not provided [RCV001909922]\|not specified [RCV004042784]	Chr20:33770195 [GRCh38] Chr20:32358001 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
NM_001282933.2(ZNF341):c.1623G>A (p.Lys541=)	single nucleotide variant	not provided [RCV001971749]	Chr20:33781291 [GRCh38] Chr20:32369097 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.893C>T (p.Thr298Met)	single nucleotide variant	not provided [RCV001896417]	Chr20:33757299 [GRCh38] Chr20:32345105 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1765G>A (p.Gly589Ser)	single nucleotide variant	not provided [RCV002025596]	Chr20:33783777 [GRCh38] Chr20:32371583 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1682C>T (p.Thr561Ile)	single nucleotide variant	not provided [RCV002009342]	Chr20:33781350 [GRCh38] Chr20:32369156 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1615G>A (p.Val539Ile)	single nucleotide variant	not provided [RCV001968690]	Chr20:33770285 [GRCh38] Chr20:32358091 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.319C>T (p.Pro107Ser)	single nucleotide variant	not provided [RCV001949851]	Chr20:33745279 [GRCh38] Chr20:32333085 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1029-14C>T	single nucleotide variant	not provided [RCV001889556]	Chr20:33761848 [GRCh38] Chr20:32349654 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
NM_001282933.2(ZNF341):c.1776C>T (p.Gly592=)	single nucleotide variant	not provided [RCV001970927]	Chr20:33783788 [GRCh38] Chr20:32371594 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	copy number gain	not provided [RCV001829151]	Chr20:18665879..33903216 [GRCh37] Chr20:20p11.23-q11.22	likely pathogenic
NM_001282933.2(ZNF341):c.2309C>T (p.Pro770Leu)	single nucleotide variant	not provided [RCV001915094]	Chr20:33791261 [GRCh38] Chr20:32379067 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.905G>A (p.Arg302Gln)	single nucleotide variant	not provided [RCV001874254]	Chr20:33757311 [GRCh38] Chr20:32345117 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2135G>A (p.Arg712His)	single nucleotide variant	not provided [RCV001874611]\|not specified [RCV004040468]	Chr20:33791087 [GRCh38] Chr20:32378893 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1771G>A (p.Gly591Arg)	single nucleotide variant	not provided [RCV001946557]	Chr20:33783783 [GRCh38] Chr20:32371589 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1600A>G (p.Lys534Glu)	single nucleotide variant	not provided [RCV001864593]	Chr20:33770270 [GRCh38] Chr20:32358076 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.511G>A (p.Val171Met)	single nucleotide variant	not provided [RCV001863577]\|not specified [RCV004038971]	Chr20:33753193 [GRCh38] Chr20:32340999 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.121C>T (p.Pro41Ser)	single nucleotide variant	not provided [RCV001983325]\|not specified [RCV004044432]	Chr20:33740991 [GRCh38] Chr20:32328797 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2108G>A (p.Arg703His)	single nucleotide variant	not provided [RCV002023025]\|not specified [RCV004046744]	Chr20:33791060 [GRCh38] Chr20:32378866 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2383G>A (p.Ala795Thr)	single nucleotide variant	not provided [RCV002002075]\|not specified [RCV004042955]	Chr20:33791335 [GRCh38] Chr20:32379141 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2431G>A (p.Ala811Thr)	single nucleotide variant	not provided [RCV002039938]	Chr20:33791383 [GRCh38] Chr20:32379189 [GRCh37] Chr20:20q11.22	uncertain significance
GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	copy number gain	not specified [RCV002052709]	Chr20:25442597..33761550 [GRCh37] Chr20:20p11.21-q11.22	pathogenic
NM_001282933.2(ZNF341):c.1934A>G (p.Glu645Gly)	single nucleotide variant	not provided [RCV001908590]	Chr20:33788944 [GRCh38] Chr20:32376750 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1994A>G (p.Asn665Ser)	single nucleotide variant	not provided [RCV001891956]	Chr20:33789547 [GRCh38] Chr20:32377353 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1054T>C (p.Cys352Arg)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV001824238]	Chr20:33761887 [GRCh38] Chr20:32349693 [GRCh37] Chr20:20q11.22	likely pathogenic
NM_001282933.2(ZNF341):c.686G>A (p.Gly229Glu)	single nucleotide variant	not provided [RCV002003122]	Chr20:33753368 [GRCh38] Chr20:32341174 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.674C>T (p.Ala225Val)	single nucleotide variant	not provided [RCV001890783]	Chr20:33753356 [GRCh38] Chr20:32341162 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1332C>G (p.Ser444=)	single nucleotide variant	not provided [RCV001927119]	Chr20:33766960 [GRCh38] Chr20:32354766 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
NM_001282933.2(ZNF341):c.1608C>A (p.Asp536Glu)	single nucleotide variant	not provided [RCV002043485]	Chr20:33770278 [GRCh38] Chr20:32358084 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1897C>T (p.Arg633Cys)	single nucleotide variant	not provided [RCV001928753]	Chr20:33788907 [GRCh38] Chr20:32376713 [GRCh37] Chr20:20q11.22	uncertain significance
NC_000020.10:g.(?_32336709)_(32336898_?)del	deletion	not provided [RCV001984613]	Chr20:32336709..32336898 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1903G>A (p.Asp635Asn)	single nucleotide variant	not provided [RCV001985838]	Chr20:33788913 [GRCh38] Chr20:32376719 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.835G>A (p.Ala279Thr)	single nucleotide variant	not provided [RCV001911544]	Chr20:33757241 [GRCh38] Chr20:32345047 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1997G>A (p.Arg666Gln)	single nucleotide variant	not provided [RCV002041868]	Chr20:33789550 [GRCh38] Chr20:32377356 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1748G>A (p.Arg583His)	single nucleotide variant	not provided [RCV002040263]	Chr20:33783760 [GRCh38] Chr20:32371566 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.633C>A (p.Asn211Lys)	single nucleotide variant	not provided [RCV001986147]	Chr20:33753315 [GRCh38] Chr20:32341121 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1577G>A (p.Ser526Asn)	single nucleotide variant	not provided [RCV001908762]	Chr20:33770247 [GRCh38] Chr20:32358053 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1510C>T (p.Arg504Cys)	single nucleotide variant	not provided [RCV002041133]	Chr20:33770180 [GRCh38] Chr20:32357986 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1735C>G (p.Arg579Gly)	single nucleotide variant	not provided [RCV001969331]	Chr20:33783747 [GRCh38] Chr20:32371553 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.629C>T (p.Pro210Leu)	single nucleotide variant	not provided [RCV001986873]	Chr20:33753311 [GRCh38] Chr20:32341117 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1792G>A (p.Val598Met)	single nucleotide variant	not provided [RCV001894922]	Chr20:33783804 [GRCh38] Chr20:32371610 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1291G>A (p.Asp431Asn)	single nucleotide variant	not provided [RCV002003415]	Chr20:33766919 [GRCh38] Chr20:32354725 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.143-14G>A	single nucleotide variant	not provided [RCV002021286]	Chr20:33745089 [GRCh38] Chr20:32332895 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2053T>A (p.Cys685Ser)	single nucleotide variant	not provided [RCV001872777]	Chr20:33791005 [GRCh38] Chr20:32378811 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1564C>G (p.Gln522Glu)	single nucleotide variant	not provided [RCV001986841]	Chr20:33770234 [GRCh38] Chr20:32358040 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.800del (p.Gly267fs)	deletion	not provided [RCV001946752]	Chr20:33757205 [GRCh38] Chr20:32345011 [GRCh37] Chr20:20q11.22	pathogenic
NM_001282933.2(ZNF341):c.2473G>A (p.Gly825Ser)	single nucleotide variant	not provided [RCV002005070]	Chr20:33791425 [GRCh38] Chr20:32379231 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2432C>T (p.Ala811Val)	single nucleotide variant	not provided [RCV002003588]	Chr20:33791384 [GRCh38] Chr20:32379190 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2323_2324delinsTT (p.Glu775Leu)	indel	not provided [RCV002020426]	Chr20:33791275..33791276 [GRCh38] Chr20:32379081..32379082 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.241C>T (p.Pro81Ser)	single nucleotide variant	not provided [RCV002023747]	Chr20:33745201 [GRCh38] Chr20:32333007 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.913A>G (p.Lys305Glu)	single nucleotide variant	not provided [RCV002002609]	Chr20:33757319 [GRCh38] Chr20:32345125 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2269G>A (p.Gly757Ser)	single nucleotide variant	not provided [RCV002021879]\|not specified [RCV004043977]	Chr20:33791221 [GRCh38] Chr20:32379027 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
NM_001282933.2(ZNF341):c.598C>G (p.Pro200Ala)	single nucleotide variant	not provided [RCV001984592]	Chr20:33753280 [GRCh38] Chr20:32341086 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1210G>A (p.Glu404Lys)	single nucleotide variant	not provided [RCV001897726]\|not specified [RCV004041328]	Chr20:33762043 [GRCh38] Chr20:32349849 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2110G>A (p.Ala704Thr)	single nucleotide variant	not provided [RCV001942659]	Chr20:33791062 [GRCh38] Chr20:32378868 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1814G>A (p.Arg605Gln)	single nucleotide variant	not provided [RCV001916554]\|not specified [RCV004043301]	Chr20:33783826 [GRCh38] Chr20:32371632 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1029-3C>T	single nucleotide variant	not provided [RCV001867381]	Chr20:33761859 [GRCh38] Chr20:32349665 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.306G>A (p.Ala102=)	single nucleotide variant	not provided [RCV001941925]	Chr20:33745266 [GRCh38] Chr20:32333072 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.320C>T (p.Pro107Leu)	single nucleotide variant	not provided [RCV001924118]\|not specified [RCV004044251]	Chr20:33745280 [GRCh38] Chr20:32333086 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2067C>T (p.Ser689=)	single nucleotide variant	not provided [RCV001942811]	Chr20:33791019 [GRCh38] Chr20:32378825 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
NM_001282933.2(ZNF341):c.619C>A (p.Pro207Thr)	single nucleotide variant	not provided [RCV002016659]	Chr20:33753301 [GRCh38] Chr20:32341107 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.196C>T (p.Pro66Ser)	single nucleotide variant	not provided [RCV002037288]	Chr20:33745156 [GRCh38] Chr20:32332962 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2424G>A (p.Ala808=)	single nucleotide variant	not provided [RCV001878383]	Chr20:33791376 [GRCh38] Chr20:32379182 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
NM_001282933.2(ZNF341):c.544C>T (p.Pro182Ser)	single nucleotide variant	not provided [RCV001885006]	Chr20:33753226 [GRCh38] Chr20:32341032 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.91C>T (p.Pro31Ser)	single nucleotide variant	not provided [RCV002038751]	Chr20:33740961 [GRCh38] Chr20:32328767 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.859G>A (p.Gly287Arg)	single nucleotide variant	not provided [RCV001997063]	Chr20:33757265 [GRCh38] Chr20:32345071 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.538C>G (p.Pro180Ala)	single nucleotide variant	not provided [RCV001934688]\|not specified [RCV004686695]	Chr20:33753220 [GRCh38] Chr20:32341026 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1298C>T (p.Pro433Leu)	single nucleotide variant	not provided [RCV001917636]\|not specified [RCV004041696]	Chr20:33766926 [GRCh38] Chr20:32354732 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
NM_001282933.2(ZNF341):c.2230C>T (p.Arg744Trp)	single nucleotide variant	not provided [RCV001881510]\|not specified [RCV004041396]	Chr20:33791182 [GRCh38] Chr20:32378988 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2096C>T (p.Ala699Val)	single nucleotide variant	not provided [RCV001957553]	Chr20:33791048 [GRCh38] Chr20:32378854 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.640G>A (p.Gly214Arg)	single nucleotide variant	not provided [RCV002013037]	Chr20:33753322 [GRCh38] Chr20:32341128 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.695C>T (p.Thr232Met)	single nucleotide variant	not provided [RCV002014365]	Chr20:33753377 [GRCh38] Chr20:32341183 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.332A>G (p.Asn111Ser)	single nucleotide variant	not provided [RCV002029716]	Chr20:33745292 [GRCh38] Chr20:32333098 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.763C>G (p.Pro255Ala)	single nucleotide variant	not provided [RCV002016238]	Chr20:33757169 [GRCh38] Chr20:32344975 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1444C>A (p.Gln482Lys)	single nucleotide variant	not provided [RCV001881115]	Chr20:33770114 [GRCh38] Chr20:32357920 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2396C>T (p.Ala799Val)	single nucleotide variant	not provided [RCV001916866]\|not specified [RCV004044102]	Chr20:33791348 [GRCh38] Chr20:32379154 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1367C>G (p.Thr456Ser)	single nucleotide variant	not provided [RCV001918374]	Chr20:33766995 [GRCh38] Chr20:32354801 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.755G>A (p.Cys252Tyr)	single nucleotide variant	not provided [RCV002046053]	Chr20:33757161 [GRCh38] Chr20:32344967 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.497T>C (p.Leu166Pro)	single nucleotide variant	not provided [RCV002015832]	Chr20:33753179 [GRCh38] Chr20:32340985 [GRCh37] Chr20:20q11.22	uncertain significance
NC_000020.10:g.(?_31189994)_(34287210_?)del	deletion	not provided [RCV001956104]	Chr20:31189994..34287210 [GRCh37] Chr20:20q11.21-11.22	pathogenic
NM_001282933.2(ZNF341):c.741G>A (p.Glu247=)	single nucleotide variant	not provided [RCV001936069]	Chr20:33753423 [GRCh38] Chr20:32341229 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2230del (p.Arg744fs)	deletion	not provided [RCV002050332]	Chr20:33791180 [GRCh38] Chr20:32378986 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1684G>T (p.Ala562Ser)	single nucleotide variant	not provided [RCV001902329]	Chr20:33781352 [GRCh38] Chr20:32369158 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2410G>A (p.Val804Ile)	single nucleotide variant	not provided [RCV001878229]\|not specified [RCV004039610]	Chr20:33791362 [GRCh38] Chr20:32379168 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1103A>G (p.His368Arg)	single nucleotide variant	not provided [RCV001990949]	Chr20:33761936 [GRCh38] Chr20:32349742 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2378C>T (p.Pro793Leu)	single nucleotide variant	not provided [RCV002034270]	Chr20:33791330 [GRCh38] Chr20:32379136 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2512G>A (p.Glu838Lys)	single nucleotide variant	not provided [RCV002036668]\|not specified [RCV004044886]	Chr20:33791464 [GRCh38] Chr20:32379270 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1475A>G (p.Glu492Gly)	single nucleotide variant	not provided [RCV001877696]	Chr20:33770145 [GRCh38] Chr20:32357951 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.172T>G (p.Cys58Gly)	single nucleotide variant	not provided [RCV002049699]	Chr20:33745132 [GRCh38] Chr20:32332938 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1775dup (p.Arg593fs)	duplication	not provided [RCV001981350]	Chr20:33783782..33783783 [GRCh38] Chr20:32371588..32371589 [GRCh37] Chr20:20q11.22	pathogenic
NM_001282933.2(ZNF341):c.634C>T (p.Pro212Ser)	single nucleotide variant	not provided [RCV001954645]	Chr20:33753316 [GRCh38] Chr20:32341122 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.334C>T (p.Arg112Cys)	single nucleotide variant	not provided [RCV001866460]\|not specified [RCV004686690]	Chr20:33745294 [GRCh38] Chr20:32333100 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1889C>T (p.Ala630Val)	single nucleotide variant	not provided [RCV001923533]	Chr20:33788899 [GRCh38] Chr20:32376705 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1549G>A (p.Asp517Asn)	single nucleotide variant	not provided [RCV001923540]	Chr20:33770219 [GRCh38] Chr20:32358025 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.859G>T (p.Gly287Trp)	single nucleotide variant	not provided [RCV001875341]	Chr20:33757265 [GRCh38] Chr20:32345071 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1561C>T (p.His521Tyr)	single nucleotide variant	not provided [RCV002033993]	Chr20:33770231 [GRCh38] Chr20:32358037 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2195G>A (p.Arg732His)	single nucleotide variant	not provided [RCV001884760]	Chr20:33791147 [GRCh38] Chr20:32378953 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2200G>A (p.Gly734Ser)	single nucleotide variant	not provided [RCV002013796]	Chr20:33791152 [GRCh38] Chr20:32378958 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2080C>T (p.Arg694Cys)	single nucleotide variant	not provided [RCV001990632]	Chr20:33791032 [GRCh38] Chr20:32378838 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1171G>A (p.Val391Ile)	single nucleotide variant	not provided [RCV001930624]	Chr20:33762004 [GRCh38] Chr20:32349810 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2368G>A (p.Gly790Ser)	single nucleotide variant	not provided [RCV001920057]\|not specified [RCV004041606]	Chr20:33791320 [GRCh38] Chr20:32379126 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.467C>A (p.Pro156His)	single nucleotide variant	not provided [RCV001996869]\|not specified [RCV004043836]	Chr20:33749050 [GRCh38] Chr20:32336856 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1294A>G (p.Lys432Glu)	single nucleotide variant	not provided [RCV002047798]	Chr20:33766922 [GRCh38] Chr20:32354728 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2260C>A (p.Arg754Ser)	single nucleotide variant	not provided [RCV001977248]\|not specified [RCV004042217]	Chr20:33791212 [GRCh38] Chr20:32379018 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2505_2506inv (p.Gly836Arg)	inversion	not provided [RCV001979565]	Chr20:33791457..33791458 [GRCh38] Chr20:32379263..32379264 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.199_200insT (p.Ala67fs)	insertion	not provided [RCV001884684]	Chr20:33745159..33745160 [GRCh38] Chr20:32332965..32332966 [GRCh37] Chr20:20q11.22	pathogenic
NM_001282933.2(ZNF341):c.1249C>T (p.Pro417Ser)	single nucleotide variant	not provided [RCV001925683]	Chr20:33766877 [GRCh38] Chr20:32354683 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.626G>A (p.Arg209His)	single nucleotide variant	not provided [RCV001940737]\|not specified [RCV004044034]	Chr20:33753308 [GRCh38] Chr20:32341114 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1001A>C (p.Asn334Thr)	single nucleotide variant	not provided [RCV001980266]	Chr20:33758779 [GRCh38] Chr20:32346585 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1813C>T (p.Arg605Trp)	single nucleotide variant	not provided [RCV001884162]	Chr20:33783825 [GRCh38] Chr20:32371631 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2282G>A (p.Arg761His)	single nucleotide variant	not provided [RCV001998287]	Chr20:33791234 [GRCh38] Chr20:32379040 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2509G>A (p.Ala837Thr)	single nucleotide variant	not provided [RCV001906806]\|not specified [RCV004042686]	Chr20:33791461 [GRCh38] Chr20:32379267 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2198T>C (p.Leu733Pro)	single nucleotide variant	not provided [RCV001924395]	Chr20:33791150 [GRCh38] Chr20:32378956 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1487G>A (p.Ser496Asn)	single nucleotide variant	not provided [RCV001980789]\|not specified [RCV004045365]	Chr20:33770157 [GRCh38] Chr20:32357963 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1745_1746del (p.Arg582fs)	deletion	not provided [RCV001950898]	Chr20:33783757..33783758 [GRCh38] Chr20:32371563..32371564 [GRCh37] Chr20:20q11.22	pathogenic
NM_001282933.2(ZNF341):c.2192G>A (p.Cys731Tyr)	single nucleotide variant	not provided [RCV001876497]	Chr20:33791144 [GRCh38] Chr20:32378950 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2375C>T (p.Pro792Leu)	single nucleotide variant	not provided [RCV001870468]\|not specified [RCV004686693]	Chr20:33791327 [GRCh38] Chr20:32379133 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2186A>G (p.His729Arg)	single nucleotide variant	not provided [RCV002048752]	Chr20:33791138 [GRCh38] Chr20:32378944 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2281C>T (p.Arg761Cys)	single nucleotide variant	not provided [RCV001957710]	Chr20:33791233 [GRCh38] Chr20:32379039 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1057A>G (p.Ile353Val)	single nucleotide variant	not provided [RCV002016328]	Chr20:33761890 [GRCh38] Chr20:32349696 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1574A>G (p.His525Arg)	single nucleotide variant	not provided [RCV002027352]\|not specified [RCV004046887]	Chr20:33770244 [GRCh38] Chr20:32358050 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.347C>G (p.Thr116Arg)	single nucleotide variant	not provided [RCV001954686]\|not specified [RCV004044006]	Chr20:33748930 [GRCh38] Chr20:32336736 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.734C>T (p.Pro245Leu)	single nucleotide variant	not provided [RCV001922653]	Chr20:33753416 [GRCh38] Chr20:32341222 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2095G>A (p.Ala699Thr)	single nucleotide variant	not provided [RCV001880456]	Chr20:33791047 [GRCh38] Chr20:32378853 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2189G>A (p.Arg730His)	single nucleotide variant	not provided [RCV001881427]	Chr20:33791141 [GRCh38] Chr20:32378947 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2467G>C (p.Gly823Arg)	single nucleotide variant	not provided [RCV002051055]\|not specified [RCV004038839]	Chr20:33791419 [GRCh38] Chr20:32379225 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1414-9del	deletion	not provided [RCV002206668]	Chr20:33770074 [GRCh38] Chr20:32357880 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1320C>T (p.Leu440=)	single nucleotide variant	not provided [RCV002144845]	Chr20:33766948 [GRCh38] Chr20:32354754 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.340-19T>C	single nucleotide variant	not provided [RCV002208992]	Chr20:33748904 [GRCh38] Chr20:32336710 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.147C>T (p.Asp49=)	single nucleotide variant	not provided [RCV002088585]	Chr20:33745107 [GRCh38] Chr20:32332913 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.742-8C>T	single nucleotide variant	not provided [RCV002165368]	Chr20:33757140 [GRCh38] Chr20:32344946 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.870G>C (p.Val290=)	single nucleotide variant	not provided [RCV002186228]	Chr20:33757276 [GRCh38] Chr20:32345082 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.340-16C>G	single nucleotide variant	not provided [RCV002130333]	Chr20:33748907 [GRCh38] Chr20:32336713 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1647C>T (p.Tyr549=)	single nucleotide variant	not provided [RCV002170236]	Chr20:33781315 [GRCh38] Chr20:32369121 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2541C>T (p.Pro847=)	single nucleotide variant	not provided [RCV002205369]	Chr20:33791493 [GRCh38] Chr20:32379299 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1413+18G>A	single nucleotide variant	not provided [RCV002072779]	Chr20:33767059 [GRCh38] Chr20:32354865 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.120G>A (p.Ala40=)	single nucleotide variant	not provided [RCV002209820]	Chr20:33740990 [GRCh38] Chr20:32328796 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.31+18C>T	single nucleotide variant	not provided [RCV002146238]	Chr20:33732070 [GRCh38] Chr20:32319876 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1853-5T>C	single nucleotide variant	not provided [RCV002104998]	Chr20:33788858 [GRCh38] Chr20:32376664 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.1773G>A (p.Gly591=)	single nucleotide variant	not provided [RCV002092250]	Chr20:33783785 [GRCh38] Chr20:32371591 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1323C>T (p.Ile441=)	single nucleotide variant	not provided [RCV002128944]	Chr20:33766951 [GRCh38] Chr20:32354757 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.481C>T (p.Pro161Ser)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV002210910]\|not specified [RCV004047186]	Chr20:33749064 [GRCh38] Chr20:32336870 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.858C>T (p.Thr286=)	single nucleotide variant	not provided [RCV002205858]	Chr20:33757264 [GRCh38] Chr20:32345070 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1620C>T (p.Tyr540=)	single nucleotide variant	ZNF341-related disorder [RCV003903449]\|not provided [RCV002168745]	Chr20:33770290 [GRCh38] Chr20:32358096 [GRCh37] Chr20:20q11.22	benign\|likely benign
NM_001282933.2(ZNF341):c.305C>T (p.Ala102Val)	single nucleotide variant	not provided [RCV002189473]	Chr20:33745265 [GRCh38] Chr20:32333071 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1029-18C>T	single nucleotide variant	not provided [RCV002071170]	Chr20:33761844 [GRCh38] Chr20:32349650 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1170C>T (p.Thr390=)	single nucleotide variant	not provided [RCV002165870]	Chr20:33762003 [GRCh38] Chr20:32349809 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1776C>A (p.Gly592=)	single nucleotide variant	not provided [RCV002186491]	Chr20:33783788 [GRCh38] Chr20:32371594 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1317C>T (p.Val439=)	single nucleotide variant	not provided [RCV002186691]	Chr20:33766945 [GRCh38] Chr20:32354751 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1853-17G>C	single nucleotide variant	not provided [RCV002071350]	Chr20:33788846 [GRCh38] Chr20:32376652 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.489+10T>C	single nucleotide variant	not provided [RCV002191304]	Chr20:33749082 [GRCh38] Chr20:32336888 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2394C>T (p.Asp798=)	single nucleotide variant	not provided [RCV002208001]	Chr20:33791346 [GRCh38] Chr20:32379152 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1449G>A (p.Thr483=)	single nucleotide variant	not provided [RCV002146130]	Chr20:33770119 [GRCh38] Chr20:32357925 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1622+1G>A	single nucleotide variant	not provided [RCV002224633]	Chr20:33770293 [GRCh38] Chr20:32358099 [GRCh37] Chr20:20q11.22	likely pathogenic
NM_001282933.2(ZNF341):c.143-15C>T	single nucleotide variant	not provided [RCV002125279]	Chr20:33745088 [GRCh38] Chr20:32332894 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2454T>C (p.Pro818=)	single nucleotide variant	not provided [RCV002168861]	Chr20:33791406 [GRCh38] Chr20:32379212 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2118G>A (p.Thr706=)	single nucleotide variant	not provided [RCV002205337]	Chr20:33791070 [GRCh38] Chr20:32378876 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2259C>T (p.Pro753=)	single nucleotide variant	ZNF341-related disorder [RCV003933500]\|not provided [RCV002147979]	Chr20:33791211 [GRCh38] Chr20:32379017 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2542G>A (p.Val848Ile)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV003224620]\|not provided [RCV002146453]	Chr20:33791494 [GRCh38] Chr20:32379300 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
NM_001282933.2(ZNF341):c.771A>G (p.Val257=)	single nucleotide variant	not provided [RCV002085319]	Chr20:33757177 [GRCh38] Chr20:32344983 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.741+9A>G	single nucleotide variant	not provided [RCV002129933]	Chr20:33753432 [GRCh38] Chr20:32341238 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2268C>T (p.Cys756=)	single nucleotide variant	not provided [RCV002073503]	Chr20:33791220 [GRCh38] Chr20:32379026 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.624G>C (p.Gly208=)	single nucleotide variant	not provided [RCV002205997]	Chr20:33753306 [GRCh38] Chr20:32341112 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2520A>C (p.Pro840=)	single nucleotide variant	not provided [RCV002194771]	Chr20:33791472 [GRCh38] Chr20:32379278 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.867G>A (p.Thr289=)	single nucleotide variant	not provided [RCV002078245]	Chr20:33757273 [GRCh38] Chr20:32345079 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.31+16G>A	single nucleotide variant	not provided [RCV002131243]	Chr20:33732068 [GRCh38] Chr20:32319874 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1414-20G>A	single nucleotide variant	not provided [RCV002130603]	Chr20:33770064 [GRCh38] Chr20:32357870 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.573G>A (p.Pro191=)	single nucleotide variant	not provided [RCV002116556]	Chr20:33753255 [GRCh38] Chr20:32341061 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1614C>T (p.Ala538=)	single nucleotide variant	not provided [RCV002153650]	Chr20:33770284 [GRCh38] Chr20:32358090 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.837C>T (p.Ala279=)	single nucleotide variant	ZNF341-related disorder [RCV003903415]\|not provided [RCV002132299]	Chr20:33757243 [GRCh38] Chr20:32345049 [GRCh37] Chr20:20q11.22	benign\|likely benign
NM_001282933.2(ZNF341):c.32-12T>C	single nucleotide variant	not provided [RCV002196887]	Chr20:33740890 [GRCh38] Chr20:32328696 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2250G>A (p.Arg750=)	single nucleotide variant	not provided [RCV002092750]	Chr20:33791202 [GRCh38] Chr20:32379008 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1794G>A (p.Val598=)	single nucleotide variant	not provided [RCV002196398]	Chr20:33783806 [GRCh38] Chr20:32371612 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2028C>T (p.Ser676=)	single nucleotide variant	not provided [RCV002081017]	Chr20:33789581 [GRCh38] Chr20:32377387 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.255A>G (p.Thr85=)	single nucleotide variant	not provided [RCV002216046]	Chr20:33745215 [GRCh38] Chr20:32333021 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1371C>T (p.Tyr457=)	single nucleotide variant	not provided [RCV002149555]	Chr20:33766999 [GRCh38] Chr20:32354805 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.387G>A (p.Leu129=)	single nucleotide variant	not provided [RCV002171560]	Chr20:33748970 [GRCh38] Chr20:32336776 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.32-11T>C	single nucleotide variant	not provided [RCV002215760]	Chr20:33740891 [GRCh38] Chr20:32328697 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.6G>A (p.Ala2=)	single nucleotide variant	not provided [RCV002153344]	Chr20:33732027 [GRCh38] Chr20:32319833 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2082C>T (p.Arg694=)	single nucleotide variant	not provided [RCV002094167]	Chr20:33791034 [GRCh38] Chr20:32378840 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2310G>C (p.Pro770=)	single nucleotide variant	not provided [RCV002174892]	Chr20:33791262 [GRCh38] Chr20:32379068 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.123C>G (p.Pro41=)	single nucleotide variant	not provided [RCV002172073]	Chr20:33740993 [GRCh38] Chr20:32328799 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2377C>T (p.Pro793Ser)	single nucleotide variant	not provided [RCV002213158]	Chr20:33791329 [GRCh38] Chr20:32379135 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.291G>A (p.Ser97=)	single nucleotide variant	not provided [RCV002215075]	Chr20:33745251 [GRCh38] Chr20:32333057 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.834C>T (p.Pro278=)	single nucleotide variant	not provided [RCV002167103]	Chr20:33757240 [GRCh38] Chr20:32345046 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1962C>T (p.Phe654=)	single nucleotide variant	not provided [RCV002096487]	Chr20:33788972 [GRCh38] Chr20:32376778 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1683C>T (p.Thr561=)	single nucleotide variant	not provided [RCV002110818]	Chr20:33781351 [GRCh38] Chr20:32369157 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.351C>T (p.Tyr117=)	single nucleotide variant	not provided [RCV002192784]	Chr20:33748934 [GRCh38] Chr20:32336740 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1860G>A (p.Lys620=)	single nucleotide variant	not provided [RCV002193262]	Chr20:33788870 [GRCh38] Chr20:32376676 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1461C>T (p.Leu487=)	single nucleotide variant	not provided [RCV002191480]	Chr20:33770131 [GRCh38] Chr20:32357937 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1720-9C>T	single nucleotide variant	not provided [RCV002113159]	Chr20:33783723 [GRCh38] Chr20:32371529 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.931C>T (p.Pro311Ser)	single nucleotide variant	not provided [RCV002093480]	Chr20:33757337 [GRCh38] Chr20:32345143 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1383G>A (p.Lys461=)	single nucleotide variant	not provided [RCV002195579]	Chr20:33767011 [GRCh38] Chr20:32354817 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2109C>T (p.Arg703=)	single nucleotide variant	not provided [RCV002206774]	Chr20:33791061 [GRCh38] Chr20:32378867 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.210C>T (p.Thr70=)	single nucleotide variant	not provided [RCV002096680]	Chr20:33745170 [GRCh38] Chr20:32332976 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.165C>T (p.Cys55=)	single nucleotide variant	not provided [RCV002131602]	Chr20:33745125 [GRCh38] Chr20:32332931 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.143-6C>T	single nucleotide variant	not provided [RCV002132754]	Chr20:33745097 [GRCh38] Chr20:32332903 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.31+7G>C	single nucleotide variant	not provided [RCV002213527]	Chr20:33732059 [GRCh38] Chr20:32319865 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.510C>T (p.Ser170=)	single nucleotide variant	not provided [RCV002214988]	Chr20:33753192 [GRCh38] Chr20:32340998 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1149C>T (p.Thr383=)	single nucleotide variant	not provided [RCV002150327]	Chr20:33761982 [GRCh38] Chr20:32349788 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2199C>T (p.Leu733=)	single nucleotide variant	not provided [RCV002077469]	Chr20:33791151 [GRCh38] Chr20:32378957 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.417T>C (p.Asp139=)	single nucleotide variant	not provided [RCV002167002]	Chr20:33749000 [GRCh38] Chr20:32336806 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2423C>T (p.Ala808Val)	single nucleotide variant	ZNF341-related disorder [RCV003913727]\|not provided [RCV002132343]	Chr20:33791375 [GRCh38] Chr20:32379181 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.366G>T (p.Pro122=)	single nucleotide variant	not provided [RCV002203603]	Chr20:33748949 [GRCh38] Chr20:32336755 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.938-12C>T	single nucleotide variant	not provided [RCV002200146]	Chr20:33758704 [GRCh38] Chr20:32346510 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1719+7G>T	single nucleotide variant	not provided [RCV002102914]	Chr20:33781394 [GRCh38] Chr20:32369200 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2084G>A (p.Arg695His)	single nucleotide variant	not provided [RCV002155031]	Chr20:33791036 [GRCh38] Chr20:32378842 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2165G>A (p.Arg722His)	single nucleotide variant	not provided [RCV002100788]	Chr20:33791117 [GRCh38] Chr20:32378923 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1248G>A (p.Ala416=)	single nucleotide variant	ZNF341-related disorder [RCV003895899]\|not provided [RCV002120745]	Chr20:33766876 [GRCh38] Chr20:32354682 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.111T>C (p.Ser37=)	single nucleotide variant	not provided [RCV002142626]	Chr20:33740981 [GRCh38] Chr20:32328787 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1542G>T (p.Ser514=)	single nucleotide variant	not provided [RCV002144316]	Chr20:33770212 [GRCh38] Chr20:32358018 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.932C>T (p.Pro311Leu)	single nucleotide variant	not provided [RCV002097808]	Chr20:33757338 [GRCh38] Chr20:32345144 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.831C>T (p.Asn277=)	single nucleotide variant	not provided [RCV002175392]	Chr20:33757237 [GRCh38] Chr20:32345043 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1035C>G (p.Thr345=)	single nucleotide variant	not provided [RCV002177248]	Chr20:33761868 [GRCh38] Chr20:32349674 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.822A>G (p.Lys274=)	single nucleotide variant	not provided [RCV002182955]	Chr20:33757228 [GRCh38] Chr20:32345034 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1704C>T (p.Cys568=)	single nucleotide variant	not provided [RCV002198012]	Chr20:33781372 [GRCh38] Chr20:32369178 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2166C>T (p.Arg722=)	single nucleotide variant	not provided [RCV002117772]	Chr20:33791118 [GRCh38] Chr20:32378924 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.2367C>T (p.Pro789=)	single nucleotide variant	not provided [RCV002220680]	Chr20:33791319 [GRCh38] Chr20:32379125 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1938C>T (p.Pro646=)	single nucleotide variant	not provided [RCV002084254]	Chr20:33788948 [GRCh38] Chr20:32376754 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.12G>A (p.Ala4=)	single nucleotide variant	not provided [RCV002217659]	Chr20:33732033 [GRCh38] Chr20:32319839 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2328G>A (p.Leu776=)	single nucleotide variant	not provided [RCV002162652]	Chr20:33791280 [GRCh38] Chr20:32379086 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.742-19G>C	single nucleotide variant	not provided [RCV002136669]	Chr20:33757129 [GRCh38] Chr20:32344935 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1028+10C>T	single nucleotide variant	not provided [RCV002180325]	Chr20:33758816 [GRCh38] Chr20:32346622 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.420G>A (p.Val140=)	single nucleotide variant	not provided [RCV002162877]	Chr20:33749003 [GRCh38] Chr20:32336809 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2376G>A (p.Pro792=)	single nucleotide variant	not provided [RCV002162932]	Chr20:33791328 [GRCh38] Chr20:32379134 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1247C>T (p.Ala416Val)	single nucleotide variant	not provided [RCV002097946]	Chr20:33766875 [GRCh38] Chr20:32354681 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1191C>T (p.Asn397=)	single nucleotide variant	not provided [RCV002161366]	Chr20:33762024 [GRCh38] Chr20:32349830 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1548C>T (p.Tyr516=)	single nucleotide variant	not provided [RCV002217133]	Chr20:33770218 [GRCh38] Chr20:32358024 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.1242G>A (p.Pro414=)	single nucleotide variant	not provided [RCV002177977]	Chr20:33766870 [GRCh38] Chr20:32354676 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2532C>T (p.Leu844=)	single nucleotide variant	ZNF341-related disorder [RCV003951046]\|not provided [RCV002101162]	Chr20:33791484 [GRCh38] Chr20:32379290 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2391G>A (p.Pro797=)	single nucleotide variant	not provided [RCV002201681]	Chr20:33791343 [GRCh38] Chr20:32379149 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2382C>T (p.Phe794=)	single nucleotide variant	not provided [RCV002179363]	Chr20:33791334 [GRCh38] Chr20:32379140 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.32-20G>A	single nucleotide variant	not provided [RCV002139614]	Chr20:33740882 [GRCh38] Chr20:32328688 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.340-16C>T	single nucleotide variant	not provided [RCV002135720]	Chr20:33748907 [GRCh38] Chr20:32336713 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.31+22_31+30del	deletion	not provided [RCV002081809]	Chr20:33732070..33732078 [GRCh38] Chr20:32319876..32319884 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.852C>T (p.Ser284=)	single nucleotide variant	not provided [RCV002219104]	Chr20:33757258 [GRCh38] Chr20:32345064 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.318C>T (p.Ala106=)	single nucleotide variant	not provided [RCV002181836]	Chr20:33745278 [GRCh38] Chr20:32333084 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1476G>A (p.Glu492=)	single nucleotide variant	not provided [RCV002159195]	Chr20:33770146 [GRCh38] Chr20:32357952 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.780C>T (p.Thr260=)	single nucleotide variant	not provided [RCV002140595]	Chr20:33757186 [GRCh38] Chr20:32344992 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.675G>A (p.Ala225=)	single nucleotide variant	not provided [RCV003118123]	Chr20:33753357 [GRCh38] Chr20:32341163 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2520A>G (p.Pro840=)	single nucleotide variant	not provided [RCV003116249]	Chr20:33791472 [GRCh38] Chr20:32379278 [GRCh37] Chr20:20q11.22	likely benign
NC_000020.10:g.(?_32371518)_(32371690_?)del	deletion	not provided [RCV003122907]	Chr20:32371518..32371690 [GRCh37] Chr20:20q11.22	pathogenic
NC_000020.10:g.(?_32340958)_(32346632_?)del	deletion	not provided [RCV003122908]	Chr20:32340958..32346632 [GRCh37] Chr20:20q11.22	pathogenic
NC_000020.10:g.(?_32332889)_(32336898_?)dup	duplication	not provided [RCV003122909]	Chr20:32332889..32336898 [GRCh37] Chr20:20q11.22	likely pathogenic
NM_001282933.2(ZNF341):c.1896C>A (p.Asn632Lys)	single nucleotide variant	not specified [RCV004300996]	Chr20:33788906 [GRCh38] Chr20:32376712 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2007G>C (p.Lys669Asn)	single nucleotide variant	not provided [RCV002837523]	Chr20:33789560 [GRCh38] Chr20:32377366 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2391G>C (p.Pro797=)	single nucleotide variant	not provided [RCV002991369]	Chr20:33791343 [GRCh38] Chr20:32379149 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.328G>A (p.Ala110Thr)	single nucleotide variant	not provided [RCV002750218]	Chr20:33745288 [GRCh38] Chr20:32333094 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.875C>T (p.Thr292Ile)	single nucleotide variant	not provided [RCV002726394]	Chr20:33757281 [GRCh38] Chr20:32345087 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.315G>T (p.Gln105His)	single nucleotide variant	not provided [RCV002299224]	Chr20:33745275 [GRCh38] Chr20:32333081 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.695C>A (p.Thr232Lys)	single nucleotide variant	not provided [RCV002303251]	Chr20:33753377 [GRCh38] Chr20:32341183 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1988A>G (p.Glu663Gly)	single nucleotide variant	not provided [RCV003011963]	Chr20:33789541 [GRCh38] Chr20:32377347 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.468C>T (p.Pro156=)	single nucleotide variant	not provided [RCV002994383]	Chr20:33749051 [GRCh38] Chr20:32336857 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2424G>T (p.Ala808=)	single nucleotide variant	not provided [RCV002972218]	Chr20:33791376 [GRCh38] Chr20:32379182 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2197C>A (p.Leu733Ile)	single nucleotide variant	not specified [RCV004143246]	Chr20:33791149 [GRCh38] Chr20:32378955 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.21G>A (p.Glu7=)	single nucleotide variant	not provided [RCV002614234]	Chr20:33732042 [GRCh38] Chr20:32319848 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2112C>T (p.Ala704=)	single nucleotide variant	not provided [RCV002775642]	Chr20:33791064 [GRCh38] Chr20:32378870 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.938-13A>T	single nucleotide variant	not provided [RCV002858437]	Chr20:33758703 [GRCh38] Chr20:32346509 [GRCh37] Chr20:20q11.22	likely benign
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	copy number gain	not provided [RCV002475651]	Chr20:29652122..35603726 [GRCh37] Chr20:20q11.21-11.23	likely pathogenic
NM_001282933.2(ZNF341):c.2533G>A (p.Ala845Thr)	single nucleotide variant	not provided [RCV002904552]	Chr20:33791485 [GRCh38] Chr20:32379291 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.365C>T (p.Pro122Leu)	single nucleotide variant	not provided [RCV003034512]	Chr20:33748948 [GRCh38] Chr20:32336754 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1770C>T (p.Ser590=)	single nucleotide variant	not provided [RCV002756454]	Chr20:33783782 [GRCh38] Chr20:32371588 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1916G>A (p.Arg639Lys)	single nucleotide variant	not provided [RCV003015985]\|not specified [RCV004068548]	Chr20:33788926 [GRCh38] Chr20:32376732 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1241C>T (p.Pro414Leu)	single nucleotide variant	not provided [RCV002947872]	Chr20:33766869 [GRCh38] Chr20:32354675 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1964C>T (p.Ser655Leu)	single nucleotide variant	not provided [RCV002690478]	Chr20:33788974 [GRCh38] Chr20:32376780 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1150G>A (p.Val384Met)	single nucleotide variant	not specified [RCV004098485]	Chr20:33761983 [GRCh38] Chr20:32349789 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1086G>A (p.Lys362=)	single nucleotide variant	not provided [RCV002881140]	Chr20:33761919 [GRCh38] Chr20:32349725 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.969G>C (p.Lys323Asn)	single nucleotide variant	not specified [RCV004092127]	Chr20:33758747 [GRCh38] Chr20:32346553 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.180G>A (p.Lys60=)	single nucleotide variant	not provided [RCV002862488]	Chr20:33745140 [GRCh38] Chr20:32332946 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1967C>T (p.Thr656Met)	single nucleotide variant	not provided [RCV003074996]	Chr20:33789520 [GRCh38] Chr20:32377326 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2489T>C (p.Leu830Pro)	single nucleotide variant	not specified [RCV004114815]	Chr20:33791441 [GRCh38] Chr20:32379247 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1890G>T (p.Ala630=)	single nucleotide variant	not provided [RCV002972382]	Chr20:33788900 [GRCh38] Chr20:32376706 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.543T>C (p.Pro181=)	single nucleotide variant	not provided [RCV002751314]	Chr20:33753225 [GRCh38] Chr20:32341031 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.49G>A (p.Val17Ile)	single nucleotide variant	not specified [RCV004103670]	Chr20:33740919 [GRCh38] Chr20:32328725 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2197C>T (p.Leu733Phe)	single nucleotide variant	not specified [RCV004136661]	Chr20:33791149 [GRCh38] Chr20:32378955 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.31+9C>T	single nucleotide variant	not provided [RCV002617965]	Chr20:33732061 [GRCh38] Chr20:32319867 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.938-5T>C	single nucleotide variant	not provided [RCV003013837]	Chr20:33758711 [GRCh38] Chr20:32346517 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.468_469dup (p.Gln157fs)	duplication	not provided [RCV002972410]	Chr20:33749048..33749049 [GRCh38] Chr20:32336854..32336855 [GRCh37] Chr20:20q11.22	pathogenic
NM_001282933.2(ZNF341):c.2475C>T (p.Gly825=)	single nucleotide variant	not provided [RCV002819049]	Chr20:33791427 [GRCh38] Chr20:32379233 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2543T>C (p.Val848Ala)	single nucleotide variant	not provided [RCV003016176]	Chr20:33791495 [GRCh38] Chr20:32379301 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2237C>A (p.Pro746His)	single nucleotide variant	not provided [RCV003075882]	Chr20:33791189 [GRCh38] Chr20:32378995 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.31+18del	deletion	not provided [RCV003016446]	Chr20:33732069 [GRCh38] Chr20:32319875 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.335G>A (p.Arg112His)	single nucleotide variant	not provided [RCV002904361]	Chr20:33745295 [GRCh38] Chr20:32333101 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2036-13C>T	single nucleotide variant	not provided [RCV002638757]	Chr20:33790975 [GRCh38] Chr20:32378781 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.646G>A (p.Gly216Ser)	single nucleotide variant	not provided [RCV002889126]	Chr20:33753328 [GRCh38] Chr20:32341134 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2529G>T (p.Met843Ile)	single nucleotide variant	not provided [RCV002593191]	Chr20:33791481 [GRCh38] Chr20:32379287 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.340-9A>T	single nucleotide variant	not provided [RCV002889492]	Chr20:33748914 [GRCh38] Chr20:32336720 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1070G>A (p.Arg357His)	single nucleotide variant	not specified [RCV004118204]	Chr20:33761903 [GRCh38] Chr20:32349709 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2360C>G (p.Ala787Gly)	single nucleotide variant	not provided [RCV002696196]	Chr20:33791312 [GRCh38] Chr20:32379118 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2089C>T (p.His697Tyr)	single nucleotide variant	not provided [RCV002659088]	Chr20:33791041 [GRCh38] Chr20:32378847 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1979G>A (p.Cys660Tyr)	single nucleotide variant	not provided [RCV002695044]	Chr20:33789532 [GRCh38] Chr20:32377338 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2035+15G>C	single nucleotide variant	not provided [RCV002914218]	Chr20:33789603 [GRCh38] Chr20:32377409 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2395G>A (p.Ala799Thr)	single nucleotide variant	not provided [RCV002976097]	Chr20:33791347 [GRCh38] Chr20:32379153 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2097C>T (p.Ala699=)	single nucleotide variant	not provided [RCV002795446]	Chr20:33791049 [GRCh38] Chr20:32378855 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1098G>A (p.Lys366=)	single nucleotide variant	not provided [RCV003018474]	Chr20:33761931 [GRCh38] Chr20:32349737 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.290C>T (p.Ser97Leu)	single nucleotide variant	not provided [RCV002780248]	Chr20:33745250 [GRCh38] Chr20:32333056 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.97_102del (p.Pro33_Thr34del)	deletion	not provided [RCV002979269]	Chr20:33740967..33740972 [GRCh38] Chr20:32328773..32328778 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1968G>A (p.Thr656=)	single nucleotide variant	not provided [RCV002592210]	Chr20:33789521 [GRCh38] Chr20:32377327 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2000C>T (p.Pro667Leu)	single nucleotide variant	not provided [RCV002637135]\|not specified [RCV004070694]	Chr20:33789553 [GRCh38] Chr20:32377359 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2432C>A (p.Ala811Glu)	single nucleotide variant	not provided [RCV002695087]	Chr20:33791384 [GRCh38] Chr20:32379190 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.156A>G (p.Val52=)	single nucleotide variant	not provided [RCV002885443]	Chr20:33745116 [GRCh38] Chr20:32332922 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.926G>A (p.Gly309Glu)	single nucleotide variant	not provided [RCV002590326]	Chr20:33757332 [GRCh38] Chr20:32345138 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1735C>T (p.Arg579Cys)	single nucleotide variant	not provided [RCV002705674]	Chr20:33783747 [GRCh38] Chr20:32371553 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1965-7G>A	single nucleotide variant	not provided [RCV002949393]	Chr20:33789511 [GRCh38] Chr20:32377317 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.647G>T (p.Gly216Val)	single nucleotide variant	not provided [RCV002705927]	Chr20:33753329 [GRCh38] Chr20:32341135 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.570A>G (p.Pro190=)	single nucleotide variant	not provided [RCV002760807]	Chr20:33753252 [GRCh38] Chr20:32341058 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1793T>A (p.Val598Glu)	single nucleotide variant	not provided [RCV002978992]	Chr20:33783805 [GRCh38] Chr20:32371611 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.697G>A (p.Val233Met)	single nucleotide variant	not provided [RCV002820356]	Chr20:33753379 [GRCh38] Chr20:32341185 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2269G>C (p.Gly757Arg)	single nucleotide variant	not specified [RCV004216313]	Chr20:33791221 [GRCh38] Chr20:32379027 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.31+16_31+17dup	duplication	not provided [RCV002975730]	Chr20:33732067..33732068 [GRCh38] Chr20:32319873..32319874 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.166G>A (p.Gly56Arg)	single nucleotide variant	not provided [RCV002570281]	Chr20:33745126 [GRCh38] Chr20:32332932 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.339+7G>T	single nucleotide variant	not provided [RCV002576272]	Chr20:33745306 [GRCh38] Chr20:32333112 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2157C>T (p.Gly719=)	single nucleotide variant	not provided [RCV002701310]	Chr20:33791109 [GRCh38] Chr20:32378915 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1626T>C (p.Cys542=)	single nucleotide variant	not provided [RCV002918374]	Chr20:33781294 [GRCh38] Chr20:32369100 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.472G>T (p.Gly158Cys)	single nucleotide variant	not provided [RCV002597387]	Chr20:33749055 [GRCh38] Chr20:32336861 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1726C>A (p.Pro576Thr)	single nucleotide variant	not provided [RCV003059808]	Chr20:33783738 [GRCh38] Chr20:32371544 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.191C>T (p.Ser64Leu)	single nucleotide variant	not provided [RCV002982558]	Chr20:33745151 [GRCh38] Chr20:32332957 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1857G>A (p.Glu619=)	single nucleotide variant	not provided [RCV003022374]	Chr20:33788867 [GRCh38] Chr20:32376673 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1722G>A (p.Val574=)	single nucleotide variant	not provided [RCV002623475]	Chr20:33783734 [GRCh38] Chr20:32371540 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.195G>C (p.Leu65=)	single nucleotide variant	not provided [RCV003005654]	Chr20:33745155 [GRCh38] Chr20:32332961 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2107C>T (p.Arg703Cys)	single nucleotide variant	not specified [RCV004078346]	Chr20:33791059 [GRCh38] Chr20:32378865 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.933G>A (p.Pro311=)	single nucleotide variant	ZNF341-related disorder [RCV003961134]\|not provided [RCV002786187]	Chr20:33757339 [GRCh38] Chr20:32345145 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2559C>T (p.Ser853=)	single nucleotide variant	not provided [RCV002576183]	Chr20:33791511 [GRCh38] Chr20:32379317 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2296C>T (p.Pro766Ser)	single nucleotide variant	not provided [RCV002741222]	Chr20:33791248 [GRCh38] Chr20:32379054 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1736G>A (p.Arg579His)	single nucleotide variant	not provided [RCV003025758]	Chr20:33783748 [GRCh38] Chr20:32371554 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1720G>C (p.Val574Leu)	single nucleotide variant	not provided [RCV002851619]	Chr20:33783732 [GRCh38] Chr20:32371538 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2479A>G (p.Asn827Asp)	single nucleotide variant	not provided [RCV002626089]	Chr20:33791431 [GRCh38] Chr20:32379237 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1602G>A (p.Lys534=)	single nucleotide variant	not provided [RCV002700729]	Chr20:33770272 [GRCh38] Chr20:32358078 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.478C>T (p.Pro160Ser)	single nucleotide variant	not specified [RCV004148708]	Chr20:33749061 [GRCh38] Chr20:32336867 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2007G>A (p.Lys669=)	single nucleotide variant	not provided [RCV003040044]	Chr20:33789560 [GRCh38] Chr20:32377366 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2261G>A (p.Arg754His)	single nucleotide variant	not provided [RCV003065613]	Chr20:33791213 [GRCh38] Chr20:32379019 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.421C>A (p.Leu141Ile)	single nucleotide variant	not specified [RCV004123140]	Chr20:33749004 [GRCh38] Chr20:32336810 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1730G>T (p.Cys577Phe)	single nucleotide variant	not provided [RCV002941871]	Chr20:33783742 [GRCh38] Chr20:32371548 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.449C>T (p.Ser150Phe)	single nucleotide variant	not provided [RCV002715450]	Chr20:33749032 [GRCh38] Chr20:32336838 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.413A>G (p.Asp138Gly)	single nucleotide variant	not specified [RCV004124833]	Chr20:33748996 [GRCh38] Chr20:32336802 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2555C>T (p.Ala852Val)	single nucleotide variant	not provided [RCV002676475]	Chr20:33791507 [GRCh38] Chr20:32379313 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1141G>A (p.Gly381Ser)	single nucleotide variant	not specified [RCV004127068]	Chr20:33761974 [GRCh38] Chr20:32349780 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1921_1922del (p.Met641fs)	deletion	not provided [RCV003031924]	Chr20:33788931..33788932 [GRCh38] Chr20:32376737..32376738 [GRCh37] Chr20:20q11.22	pathogenic
NM_001282933.2(ZNF341):c.424A>C (p.Met142Leu)	single nucleotide variant	not provided [RCV002602847]	Chr20:33749007 [GRCh38] Chr20:32336813 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.902C>T (p.Thr301Ile)	single nucleotide variant	not provided [RCV003111643]\|not specified [RCV004075160]	Chr20:33757308 [GRCh38] Chr20:32345114 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.955G>C (p.Ala319Pro)	single nucleotide variant	not provided [RCV002598829]\|not specified [RCV004073384]	Chr20:33758733 [GRCh38] Chr20:32346539 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.948G>A (p.Lys316=)	single nucleotide variant	not provided [RCV002632940]	Chr20:33758726 [GRCh38] Chr20:32346532 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1407T>C (p.Asn469=)	single nucleotide variant	not provided [RCV002580545]	Chr20:33767035 [GRCh38] Chr20:32354841 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1524C>T (p.Cys508=)	single nucleotide variant	not provided [RCV002806026]	Chr20:33770194 [GRCh38] Chr20:32358000 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.603C>T (p.Pro201=)	single nucleotide variant	not provided [RCV002856381]	Chr20:33753285 [GRCh38] Chr20:32341091 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.439G>A (p.Ala147Thr)	single nucleotide variant	not provided [RCV002597511]	Chr20:33749022 [GRCh38] Chr20:32336828 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1222+20G>A	single nucleotide variant	not provided [RCV002649654]	Chr20:33762075 [GRCh38] Chr20:32349881 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2069A>G (p.Lys690Arg)	single nucleotide variant	not provided [RCV003089445]\|not specified [RCV004071950]	Chr20:33791021 [GRCh38] Chr20:32378827 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1652C>T (p.Thr551Ile)	single nucleotide variant	not provided [RCV003008946]	Chr20:33781320 [GRCh38] Chr20:32369126 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1223-5C>T	single nucleotide variant	not provided [RCV002576936]	Chr20:33766846 [GRCh38] Chr20:32354652 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2275G>C (p.Gly759Arg)	single nucleotide variant	not provided [RCV002578302]\|not specified [RCV004064536]	Chr20:33791227 [GRCh38] Chr20:32379033 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.99G>A (p.Pro33=)	single nucleotide variant	not provided [RCV003089843]	Chr20:33740969 [GRCh38] Chr20:32328775 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1510C>G (p.Arg504Gly)	single nucleotide variant	not specified [RCV004160975]	Chr20:33770180 [GRCh38] Chr20:32357986 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1963T>C (p.Ser655Pro)	single nucleotide variant	not provided [RCV002856270]	Chr20:33788973 [GRCh38] Chr20:32376779 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.31+7G>T	single nucleotide variant	not provided [RCV002714971]	Chr20:33732059 [GRCh38] Chr20:32319865 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.654G>A (p.Val218=)	single nucleotide variant	not provided [RCV002922922]	Chr20:33753336 [GRCh38] Chr20:32341142 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.31+19G>C	single nucleotide variant	not provided [RCV002577943]	Chr20:33732071 [GRCh38] Chr20:32319877 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.363C>T (p.Pro121=)	single nucleotide variant	not provided [RCV003047453]	Chr20:33748946 [GRCh38] Chr20:32336752 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.341T>A (p.Ile114Asn)	single nucleotide variant	not specified [RCV004138448]	Chr20:33748924 [GRCh38] Chr20:32336730 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1852+17T>C	single nucleotide variant	not provided [RCV002792153]	Chr20:33783881 [GRCh38] Chr20:32371687 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1112C>T (p.Thr371Ile)	single nucleotide variant	not specified [RCV004138514]	Chr20:33761945 [GRCh38] Chr20:32349751 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2452C>G (p.Pro818Ala)	single nucleotide variant	not provided [RCV002806979]	Chr20:33791404 [GRCh38] Chr20:32379210 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.831C>A (p.Asn277Lys)	single nucleotide variant	not provided [RCV003029929]	Chr20:33757237 [GRCh38] Chr20:32345043 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.41A>G (p.Asn14Ser)	single nucleotide variant	not provided [RCV003009606]	Chr20:33740911 [GRCh38] Chr20:32328717 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2233C>T (p.Arg745Trp)	single nucleotide variant	not provided [RCV002600592]	Chr20:33791185 [GRCh38] Chr20:32378991 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.633C>T (p.Asn211=)	single nucleotide variant	not provided [RCV003048370]	Chr20:33753315 [GRCh38] Chr20:32341121 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1965-15G>T	single nucleotide variant	not provided [RCV003045808]	Chr20:33789503 [GRCh38] Chr20:32377309 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1028+6C>T	single nucleotide variant	not provided [RCV002599868]	Chr20:33758812 [GRCh38] Chr20:32346618 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.122C>T (p.Pro41Leu)	single nucleotide variant	not provided [RCV002601926]	Chr20:33740992 [GRCh38] Chr20:32328798 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1395C>T (p.Thr465=)	single nucleotide variant	not provided [RCV002627808]	Chr20:33767023 [GRCh38] Chr20:32354829 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.479C>G (p.Pro160Arg)	single nucleotide variant	not provided [RCV002676136]	Chr20:33749062 [GRCh38] Chr20:32336868 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2167C>T (p.His723Tyr)	single nucleotide variant	not provided [RCV002577929]	Chr20:33791119 [GRCh38] Chr20:32378925 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.741+5G>A	single nucleotide variant	not provided [RCV003027540]	Chr20:33753428 [GRCh38] Chr20:32341234 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.741+11G>C	single nucleotide variant	not provided [RCV002658237]	Chr20:33753434 [GRCh38] Chr20:32341240 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.532C>A (p.Pro178Thr)	single nucleotide variant	not provided [RCV002582450]	Chr20:33753214 [GRCh38] Chr20:32341020 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2421T>G (p.Gly807=)	single nucleotide variant	not provided [RCV002635081]	Chr20:33791373 [GRCh38] Chr20:32379179 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.432C>T (p.Ala144=)	single nucleotide variant	not provided [RCV002583910]	Chr20:33749015 [GRCh38] Chr20:32336821 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.723G>C (p.Gln241His)	single nucleotide variant	not provided [RCV003049754]	Chr20:33753405 [GRCh38] Chr20:32341211 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2055C>T (p.Cys685=)	single nucleotide variant	not provided [RCV002657873]	Chr20:33791007 [GRCh38] Chr20:32378813 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1230C>G (p.Gly410=)	single nucleotide variant	not provided [RCV002814767]	Chr20:33766858 [GRCh38] Chr20:32354664 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.217C>T (p.Arg73Trp)	single nucleotide variant	not provided [RCV002605987]	Chr20:33745177 [GRCh38] Chr20:32332983 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.741+19G>T	single nucleotide variant	not provided [RCV002583428]	Chr20:33753442 [GRCh38] Chr20:32341248 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1414-14C>T	single nucleotide variant	not provided [RCV002608234]	Chr20:33770070 [GRCh38] Chr20:32357876 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.918T>G (p.Gly306=)	single nucleotide variant	not provided [RCV002606007]	Chr20:33757324 [GRCh38] Chr20:32345130 [GRCh37] Chr20:20q11.22	likely pathogenic
NM_001282933.2(ZNF341):c.908G>A (p.Arg303Gln)	single nucleotide variant	not provided [RCV002590067]	Chr20:33757314 [GRCh38] Chr20:32345120 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.31+7G>A	single nucleotide variant	not provided [RCV002609493]	Chr20:33732059 [GRCh38] Chr20:32319865 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.189C>T (p.Asn63=)	single nucleotide variant	not provided [RCV002654421]	Chr20:33745149 [GRCh38] Chr20:32332955 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2149G>A (p.Ala717Thr)	single nucleotide variant	not provided [RCV002612051]\|not specified [RCV004070535]	Chr20:33791101 [GRCh38] Chr20:32378907 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2433G>A (p.Ala811=)	single nucleotide variant	not provided [RCV002602946]	Chr20:33791385 [GRCh38] Chr20:32379191 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1251A>G (p.Pro417=)	single nucleotide variant	not provided [RCV002586049]	Chr20:33766879 [GRCh38] Chr20:32354685 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1406A>C (p.Asn469Thr)	single nucleotide variant	not provided [RCV002589856]	Chr20:33767034 [GRCh38] Chr20:32354840 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2165G>T (p.Arg722Leu)	single nucleotide variant	not provided [RCV002586245]	Chr20:33791117 [GRCh38] Chr20:32378923 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.392A>C (p.Gln131Pro)	single nucleotide variant	not specified [RCV004273749]	Chr20:33748975 [GRCh38] Chr20:32336781 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2390C>G (p.Pro797Arg)	single nucleotide variant	not specified [RCV004352623]	Chr20:33791342 [GRCh38] Chr20:32379148 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1414-4C>G	single nucleotide variant	not provided [RCV003543717]	Chr20:33770080 [GRCh38] Chr20:32357886 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2282G>T (p.Arg761Leu)	single nucleotide variant	not provided [RCV003825826]	Chr20:33791234 [GRCh38] Chr20:32379040 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1761C>T (p.Thr587=)	single nucleotide variant	not provided [RCV003874408]	Chr20:33783773 [GRCh38] Chr20:32371579 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.567C>T (p.Pro189=)	single nucleotide variant	not provided [RCV003571905]	Chr20:33753249 [GRCh38] Chr20:32341055 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.90C>A (p.Val30=)	single nucleotide variant	not provided [RCV003571147]	Chr20:33740960 [GRCh38] Chr20:32328766 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1881C>T (p.Cys627=)	single nucleotide variant	not provided [RCV003873001]	Chr20:33788891 [GRCh38] Chr20:32376697 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2544C>T (p.Val848=)	single nucleotide variant	not provided [RCV003826245]	Chr20:33791496 [GRCh38] Chr20:32379302 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.339+76G>T	single nucleotide variant	not specified [RCV003391224]	Chr20:33745375 [GRCh38] Chr20:32333181 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.2036-62G>A	single nucleotide variant	not specified [RCV003397095]	Chr20:33790926 [GRCh38] Chr20:32378732 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.20A>G (p.Glu7Gly)	single nucleotide variant	ZNF341-related disorder [RCV003410595]	Chr20:33732041 [GRCh38] Chr20:32319847 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.489+9G>A	single nucleotide variant	not provided [RCV003876363]	Chr20:33749081 [GRCh38] Chr20:32336887 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.925G>A (p.Gly309Arg)	single nucleotide variant	not provided [RCV003740305]	Chr20:33757331 [GRCh38] Chr20:32345137 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1643A>G (p.Lys548Arg)	single nucleotide variant	not provided [RCV003831713]	Chr20:33781311 [GRCh38] Chr20:32369117 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.284C>T (p.Pro95Leu)	single nucleotide variant	not provided [RCV003662258]	Chr20:33745244 [GRCh38] Chr20:32333050 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2467G>A (p.Gly823Arg)	single nucleotide variant	not provided [RCV003713037]	Chr20:33791419 [GRCh38] Chr20:32379225 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.801C>A (p.Gly267=)	single nucleotide variant	not provided [RCV003828586]	Chr20:33757207 [GRCh38] Chr20:32345013 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.240C>T (p.Ala80=)	single nucleotide variant	not provided [RCV003661381]	Chr20:33745200 [GRCh38] Chr20:32333006 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.31+36C>T	single nucleotide variant	not specified [RCV003490372]	Chr20:33732088 [GRCh38] Chr20:32319894 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.31+12_31+23dup	duplication	not provided [RCV003825978]	Chr20:33732057..33732058 [GRCh38] Chr20:32319863..32319864 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.143-18C>A	single nucleotide variant	not provided [RCV003826139]	Chr20:33745085 [GRCh38] Chr20:32332891 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.72G>A (p.Leu24=)	single nucleotide variant	not provided [RCV003879904]	Chr20:33740942 [GRCh38] Chr20:32328748 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2241C>G (p.Pro747=)	single nucleotide variant	not provided [RCV003662963]	Chr20:33791193 [GRCh38] Chr20:32378999 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.92del (p.Pro31fs)	deletion	not provided [RCV003573491]	Chr20:33740960 [GRCh38] Chr20:32328766 [GRCh37] Chr20:20q11.22	pathogenic
NM_001282933.2(ZNF341):c.1877T>C (p.Val626Ala)	single nucleotide variant	not provided [RCV003577222]	Chr20:33788887 [GRCh38] Chr20:32376693 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2409C>T (p.Ile803=)	single nucleotide variant	not provided [RCV003830018]	Chr20:33791361 [GRCh38] Chr20:32379167 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2371A>G (p.Lys791Glu)	single nucleotide variant	not provided [RCV003714573]	Chr20:33791323 [GRCh38] Chr20:32379129 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.659T>C (p.Val220Ala)	single nucleotide variant	not provided [RCV003689789]	Chr20:33753341 [GRCh38] Chr20:32341147 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1852+1G>A	single nucleotide variant	not provided [RCV003574326]	Chr20:33783865 [GRCh38] Chr20:32371671 [GRCh37] Chr20:20q11.22	likely pathogenic
NM_001282933.2(ZNF341):c.1909C>T (p.Leu637=)	single nucleotide variant	not provided [RCV003575521]	Chr20:33788919 [GRCh38] Chr20:32376725 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2001G>A (p.Pro667=)	single nucleotide variant	not provided [RCV003825968]	Chr20:33789554 [GRCh38] Chr20:32377360 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1637T>C (p.Val546Ala)	single nucleotide variant	not provided [RCV003546292]	Chr20:33781305 [GRCh38] Chr20:32369111 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.825A>G (p.Gly275=)	single nucleotide variant	not provided [RCV003714908]	Chr20:33757231 [GRCh38] Chr20:32345037 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.192G>A (p.Ser64=)	single nucleotide variant	not provided [RCV003836182]	Chr20:33745152 [GRCh38] Chr20:32332958 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.241C>G (p.Pro81Ala)	single nucleotide variant	not provided [RCV003851352]	Chr20:33745201 [GRCh38] Chr20:32333007 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2248A>C (p.Arg750=)	single nucleotide variant	not provided [RCV003671925]	Chr20:33791200 [GRCh38] Chr20:32379006 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1964+1G>A	single nucleotide variant	not provided [RCV003850574]	Chr20:33788975 [GRCh38] Chr20:32376781 [GRCh37] Chr20:20q11.22	likely pathogenic
NM_001282933.2(ZNF341):c.2242C>A (p.Gln748Lys)	single nucleotide variant	not provided [RCV003561394]	Chr20:33791194 [GRCh38] Chr20:32379000 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1206G>A (p.Glu402=)	single nucleotide variant	not provided [RCV003667228]	Chr20:33762039 [GRCh38] Chr20:32349845 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1914G>A (p.Lys638=)	single nucleotide variant	not provided [RCV003856730]	Chr20:33788924 [GRCh38] Chr20:32376730 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1581C>G (p.Leu527=)	single nucleotide variant	not provided [RCV003839869]	Chr20:33770251 [GRCh38] Chr20:32358057 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2252C>T (p.Ala751Val)	single nucleotide variant	not provided [RCV003835589]	Chr20:33791204 [GRCh38] Chr20:32379010 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1222+19C>T	single nucleotide variant	not provided [RCV003834005]	Chr20:33762074 [GRCh38] Chr20:32349880 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.894G>A (p.Thr298=)	single nucleotide variant	not provided [RCV003838484]	Chr20:33757300 [GRCh38] Chr20:32345106 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2130G>A (p.Lys710=)	single nucleotide variant	not provided [RCV003672622]	Chr20:33791082 [GRCh38] Chr20:32378888 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1110G>A (p.Gln370=)	single nucleotide variant	not provided [RCV003811554]	Chr20:33761943 [GRCh38] Chr20:32349749 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2547C>T (p.Tyr849=)	single nucleotide variant	not provided [RCV003703257]	Chr20:33791499 [GRCh38] Chr20:32379305 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.938-7C>A	single nucleotide variant	not provided [RCV003723603]	Chr20:33758709 [GRCh38] Chr20:32346515 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2081G>A (p.Arg694His)	single nucleotide variant	not provided [RCV003837177]	Chr20:33791033 [GRCh38] Chr20:32378839 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.48C>T (p.Thr16=)	single nucleotide variant	not provided [RCV003854523]	Chr20:33740918 [GRCh38] Chr20:32328724 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.618C>T (p.Pro206=)	single nucleotide variant	not provided [RCV003559076]	Chr20:33753300 [GRCh38] Chr20:32341106 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.31+17C>T	single nucleotide variant	not provided [RCV003559713]	Chr20:33732069 [GRCh38] Chr20:32319875 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1413+7G>A	single nucleotide variant	not provided [RCV003834888]	Chr20:33767048 [GRCh38] Chr20:32354854 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2535T>G (p.Ala845=)	single nucleotide variant	not provided [RCV003810805]	Chr20:33791487 [GRCh38] Chr20:32379293 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.783C>A (p.Pro261=)	single nucleotide variant	not provided [RCV003724628]	Chr20:33757189 [GRCh38] Chr20:32344995 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2511C>T (p.Ala837=)	single nucleotide variant	not provided [RCV003854546]	Chr20:33791463 [GRCh38] Chr20:32379269 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.340-8C>A	single nucleotide variant	not provided [RCV003816293]	Chr20:33748915 [GRCh38] Chr20:32336721 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1530G>A (p.Lys510=)	single nucleotide variant	not provided [RCV003729101]	Chr20:33770200 [GRCh38] Chr20:32358006 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.98C>T (p.Pro33Leu)	single nucleotide variant	Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV003985120]\|not provided [RCV003670663]	Chr20:33740968 [GRCh38] Chr20:32328774 [GRCh37] Chr20:20q11.22	likely pathogenic\|uncertain significance
NM_001282933.2(ZNF341):c.951A>G (p.Pro317=)	single nucleotide variant	not provided [RCV003563396]	Chr20:33758729 [GRCh38] Chr20:32346535 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2352G>A (p.Val784=)	single nucleotide variant	not provided [RCV003728573]	Chr20:33791304 [GRCh38] Chr20:32379110 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1539C>T (p.Pro513=)	single nucleotide variant	not provided [RCV003729499]	Chr20:33770209 [GRCh38] Chr20:32358015 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.894G>T (p.Thr298=)	single nucleotide variant	not provided [RCV003842230]	Chr20:33757300 [GRCh38] Chr20:32345106 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1629C>T (p.Val543=)	single nucleotide variant	not provided [RCV003863268]	Chr20:33781297 [GRCh38] Chr20:32369103 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2262C>A (p.Arg754=)	single nucleotide variant	not provided [RCV003551223]	Chr20:33791214 [GRCh38] Chr20:32379020 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.996C>T (p.Thr332=)	single nucleotide variant	not provided [RCV003857264]	Chr20:33758774 [GRCh38] Chr20:32346580 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1199G>A (p.Arg400Lys)	single nucleotide variant	not provided [RCV003863755]	Chr20:33762032 [GRCh38] Chr20:32349838 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1428G>A (p.Val476=)	single nucleotide variant	not provided [RCV003686134]	Chr20:33770098 [GRCh38] Chr20:32357904 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.741+15C>A	single nucleotide variant	not provided [RCV003868866]	Chr20:33753438 [GRCh38] Chr20:32341244 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1209C>T (p.Asp403=)	single nucleotide variant	not provided [RCV003731673]	Chr20:33762042 [GRCh38] Chr20:32349848 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.627T>C (p.Arg209=)	single nucleotide variant	not provided [RCV003565233]	Chr20:33753309 [GRCh38] Chr20:32341115 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1653C>T (p.Thr551=)	single nucleotide variant	not provided [RCV003684136]	Chr20:33781321 [GRCh38] Chr20:32369127 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.941C>A (p.Ala314Glu)	single nucleotide variant	not provided [RCV003870048]	Chr20:33758719 [GRCh38] Chr20:32346525 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1414G>A (p.Val472Met)	single nucleotide variant	not provided [RCV003872306]	Chr20:33770084 [GRCh38] Chr20:32357890 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.31+24_31+29dup	duplication	not provided [RCV003819276]	Chr20:33732070..33732071 [GRCh38] Chr20:32319876..32319877 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2145C>G (p.Gly715=)	single nucleotide variant	not provided [RCV003863070]	Chr20:33791097 [GRCh38] Chr20:32378903 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1365C>T (p.Ser455=)	single nucleotide variant	not provided [RCV003682523]	Chr20:33766993 [GRCh38] Chr20:32354799 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1028+11G>A	single nucleotide variant	not provided [RCV003822651]	Chr20:33758817 [GRCh38] Chr20:32346623 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2430C>T (p.Gly810=)	single nucleotide variant	not provided [RCV003729924]	Chr20:33791382 [GRCh38] Chr20:32379188 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1062A>G (p.Ala354=)	single nucleotide variant	not provided [RCV003710217]	Chr20:33761895 [GRCh38] Chr20:32349701 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2202C>T (p.Gly734=)	single nucleotide variant	not provided [RCV003865982]	Chr20:33791154 [GRCh38] Chr20:32378960 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.-7C>T	single nucleotide variant	ZNF341-related disorder [RCV003941406]	Chr20:33732015 [GRCh38] Chr20:32319821 [GRCh37] Chr20:20q11.22	benign
NM_001282933.2(ZNF341):c.1811G>A (p.Arg604Gln)	single nucleotide variant	not provided [RCV003732276]\|not specified [RCV004686795]	Chr20:33783823 [GRCh38] Chr20:32371629 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1092T>C (p.Asn364=)	single nucleotide variant	not provided [RCV003860528]	Chr20:33761925 [GRCh38] Chr20:32349731 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2448G>C (p.Val816=)	single nucleotide variant	not provided [RCV003863522]	Chr20:33791400 [GRCh38] Chr20:32379206 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.31+15_31+26dup	duplication	not provided [RCV003708846]	Chr20:33732064..33732065 [GRCh38] Chr20:32319870..32319871 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.741+13G>A	single nucleotide variant	not provided [RCV003862562]	Chr20:33753436 [GRCh38] Chr20:32341242 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1853-6C>T	single nucleotide variant	not provided [RCV003858413]	Chr20:33788857 [GRCh38] Chr20:32376663 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2035+12T>C	single nucleotide variant	not provided [RCV003857619]	Chr20:33789600 [GRCh38] Chr20:32377406 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1509C>T (p.Tyr503=)	single nucleotide variant	not provided [RCV003847411]	Chr20:33770179 [GRCh38] Chr20:32357985 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2355C>T (p.Pro785=)	single nucleotide variant	not provided [RCV003731553]	Chr20:33791307 [GRCh38] Chr20:32379113 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1852+15C>G	single nucleotide variant	not provided [RCV003711087]	Chr20:33783879 [GRCh38] Chr20:32371685 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2014G>A (p.Ala672Thr)	single nucleotide variant	not specified [RCV004486615]	Chr20:33789567 [GRCh38] Chr20:32377373 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.111T>A (p.Ser37Arg)	single nucleotide variant	not specified [RCV004486614]	Chr20:33740981 [GRCh38] Chr20:32328787 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2506G>A (p.Gly836Arg)	single nucleotide variant	not specified [RCV004486616]	Chr20:33791458 [GRCh38] Chr20:32379264 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.28G>C (p.Glu10Gln)	single nucleotide variant	not specified [RCV004486617]	Chr20:33732049 [GRCh38] Chr20:32319855 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.995C>T (p.Thr332Ile)	single nucleotide variant	not specified [RCV004486621]	Chr20:33758773 [GRCh38] Chr20:32346579 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.535C>T (p.Pro179Ser)	single nucleotide variant	not specified [RCV004486618]	Chr20:33753217 [GRCh38] Chr20:32341023 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.977A>G (p.Tyr326Cys)	single nucleotide variant	not specified [RCV004486620]	Chr20:33758755 [GRCh38] Chr20:32346561 [GRCh37] Chr20:20q11.22	uncertain significance
NC_000020.10:g.(?_31571600)_(33001705_?)del	deletion	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV004579470]	Chr20:31571600..33001705 [GRCh37] Chr20:20q11.21-11.22	pathogenic
NC_000020.10:g.(?_32319828)_(32379323_?)del	deletion	not provided [RCV004580990]	Chr20:32319828..32379323 [GRCh37] Chr20:20q11.22	pathogenic
NC_000020.10:g.(?_32369077)_(32369213_?)del	deletion	not provided [RCV004580991]	Chr20:32369077..32369213 [GRCh37] Chr20:20q11.22	pathogenic
NC_000020.10:g.(?_32354637)_(32354867_?)del	deletion	not provided [RCV004580992]	Chr20:32354637..32354867 [GRCh37] Chr20:20q11.22	pathogenic
NC_000020.10:g.(?_32349648)_(32349881_?)dup	duplication	not provided [RCV004580993]	Chr20:32349648..32349881 [GRCh37] Chr20:20q11.22	likely pathogenic
NM_001282933.2(ZNF341):c.307G>A (p.Val103Ile)	single nucleotide variant	not specified [RCV004689055]	Chr20:33745267 [GRCh38] Chr20:32333073 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2356G>A (p.Glu786Lys)	single nucleotide variant	not specified [RCV004689054]	Chr20:33791308 [GRCh38] Chr20:32379114 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.2150C>T (p.Ala717Val)	single nucleotide variant	not specified [RCV004689056]	Chr20:33791102 [GRCh38] Chr20:32378908 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1823A>G (p.Tyr608Cys)	single nucleotide variant	not provided [RCV004763209]		uncertain significance
NC_000020.10:g.(?_31368130)_(34287210_?)del	deletion	Glutathione synthetase deficiency with 5-oxoprolinuria [RCV004579432]	Chr20:31368130..34287210 [GRCh37] Chr20:20q11.21-11.22	pathogenic
NM_001282933.2(ZNF341):c.1536C>A (p.Phe512Leu)	single nucleotide variant	not provided [RCV003852662]	Chr20:33770206 [GRCh38] Chr20:32358012 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1511G>A (p.Arg504His)	single nucleotide variant	not provided [RCV001909241]	Chr20:33770181 [GRCh38] Chr20:32357987 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.1622+11C>A	single nucleotide variant	not provided [RCV002174174]	Chr20:33770303 [GRCh38] Chr20:32358109 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.2397G>A (p.Ala799=)	single nucleotide variant	not provided [RCV002104713]	Chr20:33791349 [GRCh38] Chr20:32379155 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.1461C>G (p.Leu487=)	single nucleotide variant	not provided [RCV002179885]	Chr20:33770131 [GRCh38] Chr20:32357937 [GRCh37] Chr20:20q11.22	likely benign
NM_001282933.2(ZNF341):c.826C>A (p.Pro276Thr)	single nucleotide variant	not provided [RCV003112573]	Chr20:33757232 [GRCh38] Chr20:32345038 [GRCh37] Chr20:20q11.22	uncertain significance
NM_001282933.2(ZNF341):c.645C>T (p.Asn215=)	single nucleotide variant	not provided [RCV003118168]	Chr20:33753327 [GRCh38] Chr20:32341133 [GRCh37] Chr20:20q11.22	likely benign
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	copy number gain	not provided [RCV002474532]	Chr20:29833535..34815537 [GRCh37] Chr20:20q11.21-11.23	likely pathogenic
NM_001282933.2(ZNF341):c.1943A>G (p.Lys648Arg)	single nucleotide variant	not provided [RCV003020821]	Chr20:33788953 [GRCh38] Chr20:32376759 [GRCh37] Chr20:20q11.22	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3329
Count of miRNA genes:	889
Interacting mature miRNAs:	1070
Transcripts:	ENST00000342427, ENST00000375200, ENST00000483118, ENST00000493497, ENST00000497876
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
406932896	GWAS581872_H	non-melanoma skin carcinoma QTL GWAS581872 (human)		4e-15	non-melanoma skin carcinoma		20	33770937	33770938	Human
407050944	GWAS699920_H	body height QTL GWAS699920 (human)		6e-22	body height (VT:0001253)	body height (CMO:0000106)	20	33745375	33745376	Human
407119943	GWAS768919_H	sexual dimorphism measurement QTL GWAS768919 (human)		1e-09	sexual dimorphism measurement		20	33767184	33767185	Human
406900071	GWAS549047_H	body weight QTL GWAS549047 (human)		0.000001	body mass (VT:0001259)	body weight (CMO:0000012)	20	33775731	33775732	Human
407018699	GWAS667675_H	body height QTL GWAS667675 (human)		4e-30	body height (VT:0001253)	body height (CMO:0000106)	20	33745375	33745376	Human
406906444	GWAS555420_H	body height QTL GWAS555420 (human)		6e-11	body height (VT:0001253)	body height (CMO:0000106)	20	33775731	33775732	Human
407358795	GWAS1007771_H	BMI-adjusted hip circumference QTL GWAS1007771 (human)		6e-13	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	20	33785720	33785721	Human
407034508	GWAS683484_H	vital capacity QTL GWAS683484 (human)		7e-16	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	20	33745375	33745376	Human
407354612	GWAS1003588_H	BMI-adjusted hip circumference QTL GWAS1003588 (human)		3e-13	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	20	33777663	33777664	Human
407354611	GWAS1003587_H	BMI-adjusted hip circumference QTL GWAS1003587 (human)		2e-08	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	20	33788939	33788940	Human
406934905	GWAS583881_H	prostate carcinoma QTL GWAS583881 (human)		3e-10	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	20	33770982	33770983	Human
406991482	GWAS640458_H	body height QTL GWAS640458 (human)		0.000006	body height (VT:0001253)	body height (CMO:0000106)	20	33745375	33745376	Human
406937400	GWAS586376_H	prostate carcinoma QTL GWAS586376 (human)		2e-10	prostate carcinoma		20	33770982	33770983	Human
407118750	GWAS767726_H	sexual dimorphism measurement QTL GWAS767726 (human)		2e-11	sexual dimorphism measurement		20	33785720	33785721	Human
406925471	GWAS574447_H	body height QTL GWAS574447 (human)		1e-300	body height (VT:0001253)	body height (CMO:0000106)	20	33745375	33745376	Human
406937791	GWAS586767_H	suntan QTL GWAS586767 (human)		1e-207	suntan		20	33772305	33772306	Human

Markers in Region

RH92431

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	32,375,333 - 32,375,486	UniSTS	GRCh37
Build 36	20	31,838,994 - 31,839,147	RGD	NCBI36
Celera	20	29,128,051 - 29,128,204	RGD
Cytogenetic Map	20	q11.22	UniSTS
HuRef	20	29,160,131 - 29,160,284	UniSTS
GeneMap99-GB4 RH Map	20	194.33	UniSTS

Z94663

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	32,349,420 - 32,349,586	UniSTS	GRCh37
Build 36	20	31,813,081 - 31,813,247	RGD	NCBI36
Celera	20	29,102,137 - 29,102,303	RGD
Cytogenetic Map	20	q11.22	UniSTS
HuRef	20	29,134,188 - 29,134,354	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_053072	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001282933	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001282935	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_032819	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_104259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK027550	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095848	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK096755	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK122943	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL050349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC040440	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC063492	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC094738	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC132873	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC144188	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC146811	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC157823	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB091229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF456883	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584399	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000342427 ⟹ ENSP00000344308

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	33,731,657 - 33,792,269 (+)	Ensembl

Ensembl Acc Id:

ENST00000375200 ⟹ ENSP00000364346

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	33,731,996 - 33,792,269 (+)	Ensembl

Ensembl Acc Id:

ENST00000483118 ⟹ ENSP00000432933

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	33,732,010 - 33,792,269 (+)	Ensembl

Ensembl Acc Id:

ENST00000493497

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	33,787,088 - 33,792,269 (+)	Ensembl

Ensembl Acc Id:

ENST00000497876 ⟹ ENSP00000434423

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	33,732,002 - 33,792,269 (+)	Ensembl

Ensembl Acc Id:

ENST00000698694 ⟹ ENSP00000513875

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	33,731,996 - 33,791,395 (+)	Ensembl

Ensembl Acc Id:

ENST00000698695 ⟹ ENSP00000513876

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	33,753,373 - 33,792,188 (+)	Ensembl

RefSeq Acc Id:

NM_001282933 ⟹ NP_001269862

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	33,731,996 - 33,792,269 (+)	NCBI
HuRef	20	29,104,989 - 29,164,875 (+)	NCBI
CHM1_1	20	32,220,946 - 32,281,398 (+)	NCBI
T2T-CHM13v2.0	20	35,458,351 - 35,518,627 (+)	NCBI

Sequence:

show sequence

GTGGCGGCGACGGCGGCGGCTCCAAGATGGCGCAGGCGATCTTTGAGGCCCTGGAGGGAATGGA
CAATCAGACCGTTCTGGCTGTCCAGTCATTATTGGATGGCCAAGGAGCAGTCCCTGATCCGACA
GGCCAGAGTGTCAATGCGCCCCCTGCTATCCAGCCATTGGATGACGAGGATGTATTTCTCTGCG
GGAAGTGTAAGAAGCAATTCAACTCGCTGCCAGCGTTTATGACCCACAAGCGGGAACAGTGCCA
GGGGAATGCCCCCGCCCTGGCCACAGTCTCACTGGCCACCAACAGCATCTACCCACCTTCGGCA
GCACCCACAGCGGTCCAGCAGGCCCCAACTCCTGCCAATCGCCAGATCTCCACATACATCACAG
TGCCCCCGTCCCCACTGATCCAGACCCTGGTGCAGGGGAACATCTTGGTGAGCGATGATGTGCT
CATGTCTGCCATGTCAGCCTTCACATCCCTGGACCAGCCCATGCCCCAGGGCCCCCCACCTGTG
CAGAGCAGCCTGAACATGCATTCCGTGCCCAGCTACCTCACCCAGCCTCCACCTCCTCCTCCAC
CTCCTCCACCACTGCCCCCACCGCCACCACCTCAGCCTCCACCACCTCCACCCCAGAGCCTGGG
CCCCCCTGGGCGTCCCAACCCTGGTGGGAACGGTGTGGTGGAGGTGTACAGTGCTGCTGCGCCC
CTGGCTGGGAGTGGAACGGTGGAGATCCAGGCACTGGGGATGCAGCCCTACCCACCCCTAGAGG
TGCCAAACCAGTGTGTGGAGCCTCCAGTATATCCCACCCCCACAGTGTACAGCCCTGGCAAACA
GGGATTCAAACCCAAAGGACCAAACCCCGCCGCCCCCATGACCAGCGCCACCGGGGGCACGGTG
GCCACCTTTGACTCTCCAGCAACGCTGAAGACCCGACGAGCTAAAGGTGCCAGGGGACTCCCGG
AAGCTGCAGGGAAGCCAAAGGCTCAGAAACTCAAGTGCTCATACTGTGACAAGTCATTCACCAA
AAACTTTGACCTGCAGCAGCACATCCGAAGCCACACCGGTGAGAAGCCCTTCCAGTGCATTGCA
TGTGGCCGTGCCTTTGCCCAGAAGTCTAATGTTAAGAAACACATGCAGACCCACAAGGTGTGGC
CTCCAGGACACAGTGGTGGCACCGTGTCTCGAAACTCTGTGACCGTACAGGTCATGGCCCTGAA
CCCCAGCAGGCAGGAGGACGAGGAAAGCACAGGGTTGGGCCAGCCCCTGCCGGGTGCGCCACAG
CCCCAGGCCTTGTCCACAGCTGGTGAGGAAGAGGGGGACAAGCCGGAGTCCAAGCAGGTGGTCC
TCATCGACAGCTCCTACCTGTGCCAATTCTGCCCCAGCAAATTCAGCACCTACTTCCAGCTCAA
GTCTCACATGACCCAGCATAAGAATGAGCAGGTGTACAAGTGTGTGGTCAAAAGCTGTGCCCAG
ACGTTCCCAAAGCTCGACACATTTCTGGAGCACATCAAGAGCCACCAGGAGGAGCTGAGCTACC
GCTGCCACCTCTGCGGCAAGGACTTCCCCTCGCTGTACGACCTGGGCGTGCACCAGTACTCCCA
CAGCCTCCTGCCACAGCACAGCCCCAAGAAGGACAATGCCGTCTACAAGTGTGTCAAATGTGTC
AACAAATACTCCACCCCTGAGGCCCTGGAGCACCACCTGCAGACCGCCACTCACAACTTCCCCT
GCCCACACTGCCAGAAGGTGTTTCCTTGTGAACGCTACCTGCGGCGTCATCTGCCCACCCACGG
CAGCGGGGGCAGGTTCAAGTGCCAAGTGTGCAAGAAGTTCTTCCGGCGGGAGCATTATCTCAAA
CTGCATGCTCACATCCACTCGGGTGAGAAGCCCTACAAATGCTCAGTGTGCGAGTCTGCGTTCA
ACCGCAAGGACAAACTGAAGAGACACATGTTGATCCACGAGCCCTTCAAGAAATACAAATGCCC
TTTCTCGACGCACACAGGCTGCAGTAAGGAGTTCAACCGGCCGGACAAGCTGAAGGCCCACATC
CTCTCCCACTCTGGCATGAAGCTCCACAAATGCGCCCTGTGCAGCAAGTCCTTCAGCCGCCGTG
CCCACCTCGCCGAGCATCAGCGCGCCCACACGGGCAACTACAAGTTCCGCTGTGCTGGCTGCGC
CAAGGGCTTTTCCCGCCACAAATACCTCAAAGATCACCGCTGTCGTCTCGGCCCCCAAAAGGAC
AAGGACCTGCAAACCCGGCGGCCCCCCCAGAGGAGGGCAGCCCCCCGCAGTTGCGGCAGTGGTG
GGCGCAAGGTGCTGACCCCCTTGCCTGACCCGCTGGGGCTGGAGGAGCTGAAGGACACAGGGGC
TGGGCTGGTGCCCGAGGCTGTCCCCGGCAAGCCGCCCTTCGCAGAGCCGGACGCGGTGCTGTCC
ATCGTTGTGGGTGGTGCGGTGGGCGCGGAAACTGAGCTGGTGGTACCTGGACACGCTGAGGGGC
TGGGCTCCAACCTGGCTCTGGCGGAGCTGCAGGCTGGGGCCGAGGGCCCATGTGCCATGCTCGC
TGTGCCCGTCTACATCCAGGCCTCCGAGTGACGGACCTGAGGTGTCTGTTTCCTGGGCAGGCCT
GATGCTCCTGTTTGGGTCCAGGGCCCCTGGGGGCAGACCGGTGATCCTTACCAGTGGAAGCGAG
CCATCGAGCCATTGGCAGAAATCCTGCTGAATGTCATTCAGAAACCTCAGCCCATGGTCGCCCT
CCTGTGCCCCTCTCCTGCCGGAAAGCCCTGCAACATTCTAGGGTTGGGGGCAGGGCCATCCACG
GTTTCTGGGCAGAGCCATGGTGGCAGGAGAGAGATGGCTGAAGCCTGAGCAGCCCAGAGTCCCG
CTGGTCTAGGCTGGTGGTCGGGGCCCCTGGGAGAGGAGACAGGGCATTCCTCCCCACTCTGTCT
CCAGGCTGCCTCTGGGTAGCCTCTAGTCTGCTGTTCTTCAGGAGGCCTGCCATAAACTCTTCGG
AGTTTACGTGTTGCACCTTTTCACAGACGGTTCCCCACAGCATCCTCAGACAGCTCTGTGATGT
AGCTTTTAGGAGGCACTCAGGTGTCACGGCTAGACTGCAGCTATGAGACAGATCTGGCTTCAAA
TCCAAGAGTTGCCATGCACTTGCTGTGTGACCTTGGGCAAGTCACTTCACTTCTCTGAGCCCCG
TGTTCCTCATCTGTACAATGGGGCTTACGATACTACTACCTCATAGGGTTGTCCTGGGGATCCA
GTATGATGAAGTGCGCCAGGGGCTTGGCATGGTGCCCGGCACGCAGAAAGTGCTCAATAAATGT
TTTTGTCATAACGTG

hide sequence

RefSeq Acc Id:

NM_001282935 ⟹ NP_001269864

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	33,731,996 - 33,792,269 (+)	NCBI
HuRef	20	29,104,989 - 29,164,875 (+)	NCBI
CHM1_1	20	32,220,946 - 32,281,398 (+)	NCBI
T2T-CHM13v2.0	20	35,458,351 - 35,518,627 (+)	NCBI

Sequence:

show sequence

GTGGCGGCGACGGCGGCGGCTCCAAGATGGCGCAGGCGATCTTTGAGGCCCTGGAGGGAATGGA
CAATCAGACCGTTCTGGCTGTCCAGTCATTATTGGATGGCCAAGGAGCAGTCCCTGATCCGACA
GGCCAGAGTGTCAATGCGCCCCCTGCTATCCAGCCATTGGATCTCCACATACATCACAGTGCCC
CCGTCCCCACTGATCCAGACCCTGGTGCAGGGGAACATCTTGGTGAGCGATGATGTGCTCATGT
CTGCCATGTCAGCCTTCACATCCCTGGACCAGCCCATGCCCCAGGGCCCCCCACCTGTGCAGAG
CAGCCTGAACATGCATTCCGTGCCCAGCTACCTCACCCAGCCTCCACCTCCTCCTCCACCTCCT
CCACCACTGCCCCCACCGCCACCACCTCAGCCTCCACCACCTCCACCCCAGAGCCTGGGCCCCC
CTGGGCGTCCCAACCCTGGTGGGAACGGTGTGGTGGAGGTGTACAGTGCTGCTGCGCCCCTGGC
TGGGAGTGGAACGGTGGAGATCCAGGCACTGGGGATGCAGCCCTACCCACCCCTAGAGGTGCCA
AACCAGTGTGTGGAGCCTCCAGTATATCCCACCCCCACAGTGTACAGCCCTGGCAAACAGGGAT
TCAAACCCAAAGGACCAAACCCCGCCGCCCCCATGACCAGCGCCACCGGGGGCACGGTGGCCAC
CTTTGACTCTCCAGCAACGCTGAAGACCCGACGAGCTAAAGGTGCCAGGGGACTCCCGGAAGCT
GCAGGGAAGCCAAAGGCTCAGAAACTCAAGTGCTCATACTGTGACAAGTCATTCACCAAAAACT
TTGACCTGCAGCAGCACATCCGAAGCCACACCGGTGAGAAGCCCTTCCAGTGCATTGCATGTGG
CCGTGCCTTTGCCCAGAAGTCTAATGTTAAGAAACACATGCAGACCCACAAGGTGTGGCCTCCA
GGACACAGTGGTGGCACCGTGTCTCGAAACTCTGTGACCGTACAGGTCATGGCCCTGAACCCCA
GCAGGCAGGAGGACGAGGAAAGCACAGGGTTGGGCCAGCCCCTGCCGGGTGCGCCACAGCCCCA
GGCCTTGTCCACAGCTGGTGAGGAAGAGGGGGACAAGCCGGAGTCCAAGCAGGTGGTCCTCATC
GACAGCTCCTACCTGTGCCAATTCTGCCCCAGCAAATTCAGCACCTACTTCCAGCTCAAGTCTC
ACATGACCCAGCATAAGAATGAGCAGGTGTACAAGTGTGTGGTCAAAAGCTGTGCCCAGACGTT
CCCAAAGCTCGACACATTTCTGGAGCACATCAAGAGCCACCAGGAGGAGCTGAGCTACCGCTGC
CACCTCTGCGGCAAGGACTTCCCCTCGCTGTACGACCTGGGCGTGCACCAGTACTCCCACAGCC
TCCTGCCACAGCACAGCCCCAAGAAGGACAATGCCGTCTACAAGTGTGTCAAATGTGTCAACAA
ATACTCCACCCCTGAGGCCCTGGAGCACCACCTGCAGACCGCCACTCACAACTTCCCCTGCCCA
CACTGCCAGAAGGTGTTTCCTTGTGAACGCTACCTGCGGCGTCATCTGCCCACCCACGGCAGCG
GGGGCAGGTTCAAGTGCCAAGTGTGCAAGAAGTTCTTCCGGCGGGAGCATTATCTCAAACTGCA
TGCTCACATCCACTCGGGTGAGAAGCCCTACAAATGCTCAGTGTGCGAGTCTGCGTTCAACCGC
AAGGACAAACTGAAGAGACACATGTTGATCCACGAGCCCTTCAAGAAATACAAATGCCCTTTCT
CGACGCACACAGGCTGCAGTAAGGAGTTCAACCGGCCGGACAAGCTGAAGGCCCACATCCTCTC
CCACTCTGGCATGAAGCTCCACAAATGCGCCCTGTGCAGCAAGTCCTTCAGCCGCCGTGCCCAC
CTCGCCGAGCATCAGCGCGCCCACACGGGCAACTACAAGTTCCGCTGTGCTGGCTGCGCCAAGG
GCTTTTCCCGCCACAAATACCTCAAAGATCACCGCTGTCGTCTCGGCCCCCAAAAGGACAAGGA
CCTGCAAACCCGGCGGCCCCCCCAGAGGAGGGCAGCCCCCCGCAGTTGCGGCAGTGGTGGGCGC
AAGGTGCTGACCCCCTTGCCTGACCCGCTGGGGCTGGAGGAGCTGAAGGACACAGGGGCTGGGC
TGGTGCCCGAGGCTGTCCCCGGCAAGCCGCCCTTCGCAGAGCCGGACGCGGTGCTGTCCATCGT
TGTGGGTGGTGCGGTGGGCGCGGAAACTGAGCTGGTGGTACCTGGACACGCTGAGGGGCTGGGC
TCCAACCTGGCTCTGGCGGAGCTGCAGGCTGGGGCCGAGGGCCCATGTGCCATGCTCGCTGTGC
CCGTCTACATCCAGGCCTCCGAGTGACGGACCTGAGGTGTCTGTTTCCTGGGCAGGCCTGATGC
TCCTGTTTGGGTCCAGGGCCCCTGGGGGCAGACCGGTGATCCTTACCAGTGGAAGCGAGCCATC
GAGCCATTGGCAGAAATCCTGCTGAATGTCATTCAGAAACCTCAGCCCATGGTCGCCCTCCTGT
GCCCCTCTCCTGCCGGAAAGCCCTGCAACATTCTAGGGTTGGGGGCAGGGCCATCCACGGTTTC
TGGGCAGAGCCATGGTGGCAGGAGAGAGATGGCTGAAGCCTGAGCAGCCCAGAGTCCCGCTGGT
CTAGGCTGGTGGTCGGGGCCCCTGGGAGAGGAGACAGGGCATTCCTCCCCACTCTGTCTCCAGG
CTGCCTCTGGGTAGCCTCTAGTCTGCTGTTCTTCAGGAGGCCTGCCATAAACTCTTCGGAGTTT
ACGTGTTGCACCTTTTCACAGACGGTTCCCCACAGCATCCTCAGACAGCTCTGTGATGTAGCTT
TTAGGAGGCACTCAGGTGTCACGGCTAGACTGCAGCTATGAGACAGATCTGGCTTCAAATCCAA
GAGTTGCCATGCACTTGCTGTGTGACCTTGGGCAAGTCACTTCACTTCTCTGAGCCCCGTGTTC
CTCATCTGTACAATGGGGCTTACGATACTACTACCTCATAGGGTTGTCCTGGGGATCCAGTATG
ATGAAGTGCGCCAGGGGCTTGGCATGGTGCCCGGCACGCAGAAAGTGCTCAATAAATGTTTTTG
TCATAACGTG

hide sequence

RefSeq Acc Id:

NM_032819 ⟹ NP_116208

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	33,731,996 - 33,792,269 (+)	NCBI
GRCh37	20	32,319,566 - 32,380,075 (+)	NCBI
Build 36	20	31,783,469 - 31,843,736 (+)	NCBI Archive
Celera	20	29,072,525 - 29,132,795 (+)	RGD
HuRef	20	29,104,989 - 29,164,875 (+)	NCBI
CHM1_1	20	32,220,946 - 32,281,398 (+)	NCBI
T2T-CHM13v2.0	20	35,458,351 - 35,518,627 (+)	NCBI

Sequence:

show sequence

GTGGCGGCGACGGCGGCGGCTCCAAGATGGCGCAGGCGATCTTTGAGGCCCTGGAGGGAATGGA
CAATCAGACCGTTCTGGCTGTCCAGTCATTATTGGATGGCCAAGGAGCAGTCCCTGATCCGACA
GGCCAGAGTGTCAATGCGCCCCCTGCTATCCAGCCATTGGATGACGAGGATGTATTTCTCTGCG
GGAAGTGTAAGAAGCAATTCAACTCGCTGCCAGCGTTTATGACCCACAAGCGGGAACAGTGCCA
GGGGAATGCCCCCGCCCTGGCCACAGTCTCACTGGCCACCAACAGCATCTACCCACCTTCGGCA
GCACCCACAGCGGTCCAGCAGGCCCCAACTCCTGCCAATCGCCAGATCTCCACATACATCACAG
TGCCCCCGTCCCCACTGATCCAGACCCTGGTGCAGGGGAACATCTTGGTGAGCGATGATGTGCT
CATGTCTGCCATGTCAGCCTTCACATCCCTGGACCAGCCCATGCCCCAGGGCCCCCCACCTGTG
CAGAGCAGCCTGAACATGCATTCCGTGCCCAGCTACCTCACCCAGCCTCCACCTCCTCCTCCAC
CTCCTCCACCACTGCCCCCACCGCCACCACCTCAGCCTCCACCACCTCCACCCCAGAGCCTGGG
CCCCCCTGGGCGTCCCAACCCTGGTGGGAACGGTGTGGTGGAGGTGTACAGTGCTGCTGCGCCC
CTGGCTGGGAGTGGAACGGTGGAGATCCAGGCACTGGGGATGCAGCCCTACCCACCCCTAGAGG
TGCCAAACCAGTGTGTGGAGCCTCCAGTATATCCCACCCCCACAGTGTACAGCCCTGGCAAACA
GGGATTCAAACCCAAAGGACCAAACCCCGCCGCCCCCATGACCAGCGCCACCGGGGGCACGGTG
GCCACCTTTGACTCTCCAGCAACGCTGAAGACCCGACGAGCTAAAGCTGCAGGGAAGCCAAAGG
CTCAGAAACTCAAGTGCTCATACTGTGACAAGTCATTCACCAAAAACTTTGACCTGCAGCAGCA
CATCCGAAGCCACACCGGTGAGAAGCCCTTCCAGTGCATTGCATGTGGCCGTGCCTTTGCCCAG
AAGTCTAATGTTAAGAAACACATGCAGACCCACAAGGTGTGGCCTCCAGGACACAGTGGTGGCA
CCGTGTCTCGAAACTCTGTGACCGTACAGGTCATGGCCCTGAACCCCAGCAGGCAGGAGGACGA
GGAAAGCACAGGGTTGGGCCAGCCCCTGCCGGGTGCGCCACAGCCCCAGGCCTTGTCCACAGCT
GGTGAGGAAGAGGGGGACAAGCCGGAGTCCAAGCAGGTGGTCCTCATCGACAGCTCCTACCTGT
GCCAATTCTGCCCCAGCAAATTCAGCACCTACTTCCAGCTCAAGTCTCACATGACCCAGCATAA
GAATGAGCAGGTGTACAAGTGTGTGGTCAAAAGCTGTGCCCAGACGTTCCCAAAGCTCGACACA
TTTCTGGAGCACATCAAGAGCCACCAGGAGGAGCTGAGCTACCGCTGCCACCTCTGCGGCAAGG
ACTTCCCCTCGCTGTACGACCTGGGCGTGCACCAGTACTCCCACAGCCTCCTGCCACAGCACAG
CCCCAAGAAGGACAATGCCGTCTACAAGTGTGTCAAATGTGTCAACAAATACTCCACCCCTGAG
GCCCTGGAGCACCACCTGCAGACCGCCACTCACAACTTCCCCTGCCCACACTGCCAGAAGGTGT
TTCCTTGTGAACGCTACCTGCGGCGTCATCTGCCCACCCACGGCAGCGGGGGCAGGTTCAAGTG
CCAAGTGTGCAAGAAGTTCTTCCGGCGGGAGCATTATCTCAAACTGCATGCTCACATCCACTCG
GGTGAGAAGCCCTACAAATGCTCAGTGTGCGAGTCTGCGTTCAACCGCAAGGACAAACTGAAGA
GACACATGTTGATCCACGAGCCCTTCAAGAAATACAAATGCCCTTTCTCGACGCACACAGGCTG
CAGTAAGGAGTTCAACCGGCCGGACAAGCTGAAGGCCCACATCCTCTCCCACTCTGGCATGAAG
CTCCACAAATGCGCCCTGTGCAGCAAGTCCTTCAGCCGCCGTGCCCACCTCGCCGAGCATCAGC
GCGCCCACACGGGCAACTACAAGTTCCGCTGTGCTGGCTGCGCCAAGGGCTTTTCCCGCCACAA
ATACCTCAAAGATCACCGCTGTCGTCTCGGCCCCCAAAAGGACAAGGACCTGCAAACCCGGCGG
CCCCCCCAGAGGAGGGCAGCCCCCCGCAGTTGCGGCAGTGGTGGGCGCAAGGTGCTGACCCCCT
TGCCTGACCCGCTGGGGCTGGAGGAGCTGAAGGACACAGGGGCTGGGCTGGTGCCCGAGGCTGT
CCCCGGCAAGCCGCCCTTCGCAGAGCCGGACGCGGTGCTGTCCATCGTTGTGGGTGGTGCGGTG
GGCGCGGAAACTGAGCTGGTGGTACCTGGACACGCTGAGGGGCTGGGCTCCAACCTGGCTCTGG
CGGAGCTGCAGGCTGGGGCCGAGGGCCCATGTGCCATGCTCGCTGTGCCCGTCTACATCCAGGC
CTCCGAGTGACGGACCTGAGGTGTCTGTTTCCTGGGCAGGCCTGATGCTCCTGTTTGGGTCCAG
GGCCCCTGGGGGCAGACCGGTGATCCTTACCAGTGGAAGCGAGCCATCGAGCCATTGGCAGAAA
TCCTGCTGAATGTCATTCAGAAACCTCAGCCCATGGTCGCCCTCCTGTGCCCCTCTCCTGCCGG
AAAGCCCTGCAACATTCTAGGGTTGGGGGCAGGGCCATCCACGGTTTCTGGGCAGAGCCATGGT
GGCAGGAGAGAGATGGCTGAAGCCTGAGCAGCCCAGAGTCCCGCTGGTCTAGGCTGGTGGTCGG
GGCCCCTGGGAGAGGAGACAGGGCATTCCTCCCCACTCTGTCTCCAGGCTGCCTCTGGGTAGCC
TCTAGTCTGCTGTTCTTCAGGAGGCCTGCCATAAACTCTTCGGAGTTTACGTGTTGCACCTTTT
CACAGACGGTTCCCCACAGCATCCTCAGACAGCTCTGTGATGTAGCTTTTAGGAGGCACTCAGG
TGTCACGGCTAGACTGCAGCTATGAGACAGATCTGGCTTCAAATCCAAGAGTTGCCATGCACTT
GCTGTGTGACCTTGGGCAAGTCACTTCACTTCTCTGAGCCCCGTGTTCCTCATCTGTACAATGG
GGCTTACGATACTACTACCTCATAGGGTTGTCCTGGGGATCCAGTATGATGAAGTGCGCCAGGG
GCTTGGCATGGTGCCCGGCACGCAGAAAGTGCTCAATAAATGTTTTTGTCATAACGTG

hide sequence

RefSeq Acc Id:

NR_104259

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	33,731,996 - 33,792,269 (+)	NCBI
HuRef	20	29,104,989 - 29,164,875 (+)	NCBI
CHM1_1	20	32,220,946 - 32,281,398 (+)	NCBI
T2T-CHM13v2.0	20	35,458,351 - 35,518,627 (+)	NCBI

Sequence:

show sequence

GTGGCGGCGACGGCGGCGGCTCCAAGATGGCGCAGGCGATCTTTGAGGCCCTGGAGGGAATGGA
CAATCAGACCGTTCTGGCTGTCCAGTCATTATTGGATGGCCAAGGAGCAGTCCCTGATCCGACA
GGCCAGAGTGTCAATGCGCCCCCTGCTATCCAGCCATTGGATGACGAGGATGTATTTCTCTGCG
GGAAGTGTAAGAAGCAATTCAACTCGCTGCCAGCGTTTATGACCCACAAGCGGGAACAGTGCCA
GGGGAATGCCCCCGCCCTGGCCACAGTCTCACTGGCCACCAACAGCATCTACCCACCTTCGGCA
GCACCCACAGCGGTCCAGCAGGCCCCAACTCCTGCCAATCGCCAGATCTCCACATACATCACAG
TGCCCCCGTCCCCACTGATCCAGACCCTGGTGCAGGGGAACATCTTGGTGAGCGATGATGTGCT
CATGTCTGCCATGTCAGCCTTCACATCCCTGGACCAGCCCATGCCCCAGGGCCCCCCACCTGTG
CAGAGCAGCCTGAACATGCATTCCGTGCCCAGCTACCTCACCCAGCCTCCACCTCCTCCTCCAC
CTCCTCCACCACTGCCCCCACCGCCACCACCTCAGCCTCCACCACCTCCACCCCAGAGCCTGGG
CCCCCCTGGGCGTCCCAACCCTGGTGGGAACGGTGTGGTGGAGGTGTACAGTGCTGCTGCGCCC
CTGGCTGGGAGTGGAACGGTGGAGATCCAGGCACTGGGGATGCAGCCCTACCCACCCCTAGAGG
TGCCAAACCAGTGTGTGGAGCCTCCAGTATATCCCACCCCCACAGTGTACAGCCCTGGCAAACA
GGGATTCAAACCCAAAGGACCAAACCCCGCCGCCCCCATGACCAGCGCCACCGGGGGCACGGTG
GCCACCTTTGACTCTCCAGCAACGCTGAAGACCCGACGAGCTAAAGGTGCCAGGGGACTCCCGG
AAGCTGCAGGGAAGCCAAAGGCTCAGAAACTCAAGTGCTCATACTGTGACAAGTCATTCACCAA
AAACTTTGACCTGCAGCAGCACATCCGAAGCCACACCGGTGAGAAGCCCTTCCAGTGCATTGCA
TGTGGCCGTGCCTTTGCCCAGAAGTCTAATGTTAAGAAACACATGCAGACCCACAAGGTGTGGC
CTCCAGGACACAGTGGTGGCACCGTGTCTCGAAACTCTGTGACCGTACAGGTCATGGCCCTGAA
CCCCAGCAGGCAGGAGGACGAGGAAAGCACAGGGTTGGGCCAGCCCCTGCCGGGTGCGCCACAG
CCCCAGGCCTTGTCCACAGCTGGTGAGGAAGAGGGGGACAAGCCGGAGTCCAAGCAGGTGGTCC
TCATCGACAGCTCCTACCTGTGCCAATTCTGCCCCAGCAAATTCAGCACCTACTTCCAGCTCAA
GTCTCACATGACCCAGCATAAGAATGAGCAGGTGTACAAGTGTGTGGTCAAAAGCTGTGCCCAG
ACGTTCCCAAAGCTCGACACATTTCTGGAGCACATCAAGAGCCACCAGGAGGAGCTGAGCTACC
GCTGCCACCTCTGCGGCAAGGACTTCCCCTCGCTGTACGACCTGGGCGTGCACCAGTACTCCCA
CAGCCTCCTGCCACAGCACAGCCCCAAGAAGGACAATGCCGTCTACAAGTGTTTCCTTGTGAAC
GCTACCTGCGGCGTCATCTGCCCACCCACGGCAGCGGGGGCAGGTTCAAGTGCCAAGTGTGCAA
GAAGTTCTTCCGGCGGGAGCATTATCTCAAACTGCATGCTCACATCCACTCGGGTGAGAAGCCC
TACAAATGCTCAGTGTGCGAGTCTGCGTTCAACCGCAAGGACAAACTGAAGAGACACATGTTGA
TCCACGAGCCCTTCAAGAAATACAAATGCCCTTTCTCGACGCACACAGGCTGCAGTAAGGAGTT
CAACCGGCCGGACAAGCTGAAGGCCCACATCCTCTCCCACTCTGGCATGAAGCTCCACAAATGC
GCCCTGTGCAGCAAGTCCTTCAGCCGCCGTGCCCACCTCGCCGAGCATCAGCGCGCCCACACGG
GCAACTACAAGTTCCGCTGTGCTGGCTGCGCCAAGGGCTTTTCCCGCCACAAATACCTCAAAGA
TCACCGCTGTCGTCTCGGCCCCCAAAAGGACAAGGACCTGCAAACCCGGCGGCCCCCCCAGAGG
AGGGCAGCCCCCCGCAGTTGCGGCAGTGGTGGGCGCAAGGTGCTGACCCCCTTGCCTGACCCGC
TGGGGCTGGAGGAGCTGAAGGACACAGGGGCTGGGCTGGTGCCCGAGGCTGTCCCCGGCAAGCC
GCCCTTCGCAGAGCCGGACGCGGTGCTGTCCATCGTTGTGGGTGGTGCGGTGGGCGCGGAAACT
GAGCTGGTGGTACCTGGACACGCTGAGGGGCTGGGCTCCAACCTGGCTCTGGCGGAGCTGCAGG
CTGGGGCCGAGGGCCCATGTGCCATGCTCGCTGTGCCCGTCTACATCCAGGCCTCCGAGTGACG
GACCTGAGGTGTCTGTTTCCTGGGCAGGCCTGATGCTCCTGTTTGGGTCCAGGGCCCCTGGGGG
CAGACCGGTGATCCTTACCAGTGGAAGCGAGCCATCGAGCCATTGGCAGAAATCCTGCTGAATG
TCATTCAGAAACCTCAGCCCATGGTCGCCCTCCTGTGCCCCTCTCCTGCCGGAAAGCCCTGCAA
CATTCTAGGGTTGGGGGCAGGGCCATCCACGGTTTCTGGGCAGAGCCATGGTGGCAGGAGAGAG
ATGGCTGAAGCCTGAGCAGCCCAGAGTCCCGCTGGTCTAGGCTGGTGGTCGGGGCCCCTGGGAG
AGGAGACAGGGCATTCCTCCCCACTCTGTCTCCAGGCTGCCTCTGGGTAGCCTCTAGTCTGCTG
TTCTTCAGGAGGCCTGCCATAAACTCTTCGGAGTTTACGTGTTGCACCTTTTCACAGACGGTTC
CCCACAGCATCCTCAGACAGCTCTGTGATGTAGCTTTTAGGAGGCACTCAGGTGTCACGGCTAG
ACTGCAGCTATGAGACAGATCTGGCTTCAAATCCAAGAGTTGCCATGCACTTGCTGTGTGACCT
TGGGCAAGTCACTTCACTTCTCTGAGCCCCGTGTTCCTCATCTGTACAATGGGGCTTACGATAC
TACTACCTCATAGGGTTGTCCTGGGGATCCAGTATGATGAAGTGCGCCAGGGGCTTGGCATGGT
GCCCGGCACGCAGAAAGTGCTCAATAAATGTTTTTGTCATAACGTG

hide sequence

Protein Sequences


Protein RefSeqs	NP_001269862	(Get FASTA)	NCBI Sequence Viewer
	NP_001269864	(Get FASTA)	NCBI Sequence Viewer
	NP_116208	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH94738	(Get FASTA)	NCBI Sequence Viewer
	AAI32874	(Get FASTA)	NCBI Sequence Viewer
	AAI44189	(Get FASTA)	NCBI Sequence Viewer
	AAI46812	(Get FASTA)	NCBI Sequence Viewer
	AAI57824	(Get FASTA)	NCBI Sequence Viewer
	BAB55193	(Get FASTA)	NCBI Sequence Viewer
	BAG53359	(Get FASTA)	NCBI Sequence Viewer
	EAW76295	(Get FASTA)	NCBI Sequence Viewer
	EAW76296	(Get FASTA)	NCBI Sequence Viewer
	EAW76297	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000344308
	ENSP00000344308.2
	ENSP00000364346
	ENSP00000364346.1
	ENSP00000432933.1
	ENSP00000434423.1
	ENSP00000513875.1
	ENSP00000513876.1
GenBank Protein	Q9BYN7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_116208 ⟸ NM_032819
- Peptide Label:	isoform 2
- UniProtKB:	B3KU97 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAQAIFEALEGMDNQTVLAVQSLLDGQGAVPDPTGQSVNAPPAIQPLDDEDVFLCGKCKKQFNS LPAFMTHKREQCQGNAPALATVSLATNSIYPPSAAPTAVQQAPTPANRQISTYITVPPSPLIQT LVQGNILVSDDVLMSAMSAFTSLDQPMPQGPPPVQSSLNMHSVPSYLTQPPPPPPPPPPLPPPP PPQPPPPPPQSLGPPGRPNPGGNGVVEVYSAAAPLAGSGTVEIQALGMQPYPPLEVPNQCVEPP VYPTPTVYSPGKQGFKPKGPNPAAPMTSATGGTVATFDSPATLKTRRAKAAGKPKAQKLKCSYC DKSFTKNFDLQQHIRSHTGEKPFQCIACGRAFAQKSNVKKHMQTHKVWPPGHSGGTVSRNSVTV QVMALNPSRQEDEESTGLGQPLPGAPQPQALSTAGEEEGDKPESKQVVLIDSSYLCQFCPSKFS TYFQLKSHMTQHKNEQVYKCVVKSCAQTFPKLDTFLEHIKSHQEELSYRCHLCGKDFPSLYDLG VHQYSHSLLPQHSPKKDNAVYKCVKCVNKYSTPEALEHHLQTATHNFPCPHCQKVFPCERYLRR HLPTHGSGGRFKCQVCKKFFRREHYLKLHAHIHSGEKPYKCSVCESAFNRKDKLKRHMLIHEPF KKYKCPFSTHTGCSKEFNRPDKLKAHILSHSGMKLHKCALCSKSFSRRAHLAEHQRAHTGNYKF RCAGCAKGFSRHKYLKDHRCRLGPQKDKDLQTRRPPQRRAAPRSCGSGGRKVLTPLPDPLGLEE LKDTGAGLVPEAVPGKPPFAEPDAVLSIVVGGAVGAETELVVPGHAEGLGSNLALAELQAGAEG PCAMLAVPVYIQASE hide sequence

RefSeq Acc Id:	NP_001269862 ⟸ NM_001282933
- Peptide Label:	isoform 1
- UniProtKB:	B2RXE5 (UniProtKB/Swiss-Prot), Q5JXM8 (UniProtKB/Swiss-Prot), B7ZM09 (UniProtKB/Swiss-Prot), A2RUF4 (UniProtKB/Swiss-Prot), Q96ST5 (UniProtKB/Swiss-Prot), Q9BYN7 (UniProtKB/Swiss-Prot), Q504V9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAQAIFEALEGMDNQTVLAVQSLLDGQGAVPDPTGQSVNAPPAIQPLDDEDVFLCGKCKKQFNS LPAFMTHKREQCQGNAPALATVSLATNSIYPPSAAPTAVQQAPTPANRQISTYITVPPSPLIQT LVQGNILVSDDVLMSAMSAFTSLDQPMPQGPPPVQSSLNMHSVPSYLTQPPPPPPPPPPLPPPP PPQPPPPPPQSLGPPGRPNPGGNGVVEVYSAAAPLAGSGTVEIQALGMQPYPPLEVPNQCVEPP VYPTPTVYSPGKQGFKPKGPNPAAPMTSATGGTVATFDSPATLKTRRAKGARGLPEAAGKPKAQ KLKCSYCDKSFTKNFDLQQHIRSHTGEKPFQCIACGRAFAQKSNVKKHMQTHKVWPPGHSGGTV SRNSVTVQVMALNPSRQEDEESTGLGQPLPGAPQPQALSTAGEEEGDKPESKQVVLIDSSYLCQ FCPSKFSTYFQLKSHMTQHKNEQVYKCVVKSCAQTFPKLDTFLEHIKSHQEELSYRCHLCGKDF PSLYDLGVHQYSHSLLPQHSPKKDNAVYKCVKCVNKYSTPEALEHHLQTATHNFPCPHCQKVFP CERYLRRHLPTHGSGGRFKCQVCKKFFRREHYLKLHAHIHSGEKPYKCSVCESAFNRKDKLKRH MLIHEPFKKYKCPFSTHTGCSKEFNRPDKLKAHILSHSGMKLHKCALCSKSFSRRAHLAEHQRA HTGNYKFRCAGCAKGFSRHKYLKDHRCRLGPQKDKDLQTRRPPQRRAAPRSCGSGGRKVLTPLP DPLGLEELKDTGAGLVPEAVPGKPPFAEPDAVLSIVVGGAVGAETELVVPGHAEGLGSNLALAE LQAGAEGPCAMLAVPVYIQASE hide sequence

RefSeq Acc Id:	NP_001269864 ⟸ NM_001282935
- Peptide Label:	isoform 3
- UniProtKB:	Q504V9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAKEQSLIRQARVSMRPLLSSHWISTYITVPPSPLIQTLVQGNILVSDDVLMSAMSAFTSLDQP MPQGPPPVQSSLNMHSVPSYLTQPPPPPPPPPPLPPPPPPQPPPPPPQSLGPPGRPNPGGNGVV EVYSAAAPLAGSGTVEIQALGMQPYPPLEVPNQCVEPPVYPTPTVYSPGKQGFKPKGPNPAAPM TSATGGTVATFDSPATLKTRRAKGARGLPEAAGKPKAQKLKCSYCDKSFTKNFDLQQHIRSHTG EKPFQCIACGRAFAQKSNVKKHMQTHKVWPPGHSGGTVSRNSVTVQVMALNPSRQEDEESTGLG QPLPGAPQPQALSTAGEEEGDKPESKQVVLIDSSYLCQFCPSKFSTYFQLKSHMTQHKNEQVYK CVVKSCAQTFPKLDTFLEHIKSHQEELSYRCHLCGKDFPSLYDLGVHQYSHSLLPQHSPKKDNA VYKCVKCVNKYSTPEALEHHLQTATHNFPCPHCQKVFPCERYLRRHLPTHGSGGRFKCQVCKKF FRREHYLKLHAHIHSGEKPYKCSVCESAFNRKDKLKRHMLIHEPFKKYKCPFSTHTGCSKEFNR PDKLKAHILSHSGMKLHKCALCSKSFSRRAHLAEHQRAHTGNYKFRCAGCAKGFSRHKYLKDHR CRLGPQKDKDLQTRRPPQRRAAPRSCGSGGRKVLTPLPDPLGLEELKDTGAGLVPEAVPGKPPF AEPDAVLSIVVGGAVGAETELVVPGHAEGLGSNLALAELQAGAEGPCAMLAVPVYIQASE hide sequence

Ensembl Acc Id:

ENSP00000364346 ⟸ ENST00000375200

Ensembl Acc Id:

ENSP00000432933 ⟸ ENST00000483118

Ensembl Acc Id:

ENSP00000434423 ⟸ ENST00000497876

Ensembl Acc Id:

ENSP00000344308 ⟸ ENST00000342427

Ensembl Acc Id:

ENSP00000513876 ⟸ ENST00000698695

Ensembl Acc Id:

ENSP00000513875 ⟸ ENST00000698694

Protein Domains

C2H2-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BYN7-F1-model_v2	AlphaFold	Q9BYN7	1-854	view protein structure

Promoters

RGD ID:

6798718

Promoter ID:

HG_KWN:39102

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

ENST00000342427, ENST00000375196, ENST00000375200, UC010GER.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	31,783,121 - 31,783,621 (+)	MPROMDB

RGD ID:

13206709

Promoter ID:

EPDNEW_H26935

Type:

multiple initiation site

Name:

ZNF341_1

Description:

zinc finger protein 341

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	33,731,996 - 33,732,056	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:15992	AgrOrtholog
COSMIC	ZNF341	COSMIC
Ensembl Genes	ENSG00000131061	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000342427	ENTREZGENE
	ENST00000342427.6	UniProtKB/Swiss-Prot
	ENST00000375200	ENTREZGENE
	ENST00000375200.6	UniProtKB/Swiss-Prot
	ENST00000483118	ENTREZGENE
	ENST00000483118.5	UniProtKB/TrEMBL
	ENST00000497876.5	UniProtKB/TrEMBL
	ENST00000698694.1	UniProtKB/TrEMBL
	ENST00000698695.1	UniProtKB/TrEMBL
Gene3D-CATH	Classic Zinc Finger	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000131061	GTEx
HGNC ID	HGNC:15992	ENTREZGENE
Human Proteome Map	ZNF341	Human Proteome Map
InterPro	Zinc_finger	UniProtKB/TrEMBL
	ZNF800/341	UniProtKB/TrEMBL
	Znf_C2H2_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_C2H2_type	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:84905	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	84905	ENTREZGENE
OMIM	618269	OMIM
PANTHER	C2H2-TYPE DOMAIN-CONTAINING PROTEIN	UniProtKB/Swiss-Prot
	C2H2-TYPE DOMAIN-CONTAINING PROTEIN	UniProtKB/TrEMBL
	FINGER PROTEIN, PUTATIVE-RELATED	UniProtKB/TrEMBL
	IP01257P-RELATED	UniProtKB/TrEMBL
	KRAB AND ZINC FINGER DOMAIN-CONTAINING	UniProtKB/TrEMBL
	PR DOMAIN ZINC FINGER PROTEIN	UniProtKB/TrEMBL
	PRIMATE-EXPANDED PROTEIN FAMILY	UniProtKB/TrEMBL
	UNCHARACTERIZED	UniProtKB/TrEMBL
	ZINC FINGER PROTEIN	UniProtKB/Swiss-Prot
	ZINC FINGER PROTEIN 800	UniProtKB/TrEMBL
Pfam	zf-C2H2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	zf-C2H2_6	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA38076	PharmGKB
PROSITE	ZINC_FINGER_C2H2_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZINC_FINGER_C2H2_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	ZnF_C2H2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF57667	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A8V8TML2_HUMAN	UniProtKB/TrEMBL
	A0A8V8TNW4_HUMAN	UniProtKB/TrEMBL
	A2RUF4	ENTREZGENE
	B2RXE5	ENTREZGENE
	B3KU97	ENTREZGENE, UniProtKB/TrEMBL
	B7ZM09	ENTREZGENE
	E9PN62_HUMAN	UniProtKB/TrEMBL
	E9PQQ0_HUMAN	UniProtKB/TrEMBL
	Q504V9	ENTREZGENE, UniProtKB/TrEMBL
	Q5JXM8	ENTREZGENE
	Q96ST5	ENTREZGENE
	Q9BYN7	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A2RUF4	UniProtKB/Swiss-Prot
	B2RXE5	UniProtKB/Swiss-Prot
	B7ZM09	UniProtKB/Swiss-Prot
	Q5JXM8	UniProtKB/Swiss-Prot
	Q96ST5	UniProtKB/Swiss-Prot

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

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

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

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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