ZNF462 (zinc finger protein 462) - Rat Genome Database

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Gene: ZNF462 (zinc finger protein 462) Homo sapiens
Analyze
Symbol: ZNF462
Name: zinc finger protein 462
RGD ID: 1352850
HGNC Page HGNC:21684
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and metal ion binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within chromatin organization. Located in nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp686B2325; DKFZp762N2316; FLJ14960; FLJ45904; KIAA1803; RP11-508N12.1; WSKA; Zfp462; ZFPIP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389106,860,158 - 107,013,634 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9106,863,166 - 107,013,634 (+)EnsemblGRCh38hg38GRCh38
GRCh379109,625,447 - 109,775,915 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369108,665,199 - 108,813,628 (+)NCBINCBI36Build 36hg18NCBI36
Build 349106,704,932 - 106,853,344NCBI
Celera980,129,626 - 80,278,036 (+)NCBICelera
Cytogenetic Map9q31.2NCBI
HuRef979,228,691 - 79,377,100 (+)NCBIHuRef
CHM1_19109,772,762 - 109,921,142 (+)NCBICHM1_1
T2T-CHM13v2.09119,036,267 - 119,189,919 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleoplasm  (IDA)
nucleus  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal heart morphology  (IAGP)
Abnormality of limbs  (IAGP)
Abnormality of the outer ear  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anteverted nares  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Broad philtrum  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Colpocephaly  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cupped ear  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Delayed speech and language development  (IAGP)
Dextrotransposition of the great arteries  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysplastic corpus callosum  (IAGP)
Epicanthus  (IAGP)
Exaggerated cupid's bow  (IAGP)
Feeding difficulties  (IAGP)
Generalized hypotonia  (IAGP)
Hearing impairment  (IAGP)
Highly arched eyebrow  (IAGP)
Horizontal crus of helix  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic fingernail  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Left ventricular hypertrophy  (IAGP)
Low-set ears  (IAGP)
Microtia  (IAGP)
Mild global developmental delay  (IAGP)
Motor delay  (IAGP)
Neurodevelopmental delay  (IAGP)
Obstructive sleep apnea  (IAGP)
Overfolded helix  (IAGP)
Preauricular pit  (IAGP)
Premature ovarian insufficiency  (IAGP)
Prominent metopic ridge  (IAGP)
Prominent nasal tip  (IAGP)
Protruding ear  (IAGP)
Proximal placement of thumb  (IAGP)
Ptosis  (IAGP)
Seizure  (IAGP)
Short nose  (IAGP)
Single transverse palmar crease  (IAGP)
Tube feeding  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (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:7757816   PMID:11347906   PMID:12168954   PMID:12477932   PMID:14702039   PMID:15489334   PMID:18391951   PMID:18978678   PMID:19266077   PMID:19448620   PMID:19505873   PMID:19913121  
PMID:20080650   PMID:20546612   PMID:20562864   PMID:20628086   PMID:20881960   PMID:21873635   PMID:22826440   PMID:23272104   PMID:23414517   PMID:23667531   PMID:24025145   PMID:25752541  
PMID:25798074   PMID:27503909   PMID:27634302   PMID:27705803   PMID:28513610   PMID:28514442   PMID:28611215   PMID:29180619   PMID:29427787   PMID:29507755   PMID:30021884   PMID:31361404  
PMID:31586073   PMID:31670927   PMID:32296183   PMID:32744500   PMID:32891193   PMID:33472061   PMID:33961781   PMID:34079125   PMID:35140242   PMID:35156780   PMID:35182466   PMID:35439318  
PMID:35785414   PMID:35850772   PMID:36089195   PMID:36461789   PMID:37071664   PMID:37689310   PMID:38297188  


Genomics

Comparative Map Data
ZNF462
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389106,860,158 - 107,013,634 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9106,863,166 - 107,013,634 (+)EnsemblGRCh38hg38GRCh38
GRCh379109,625,447 - 109,775,915 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369108,665,199 - 108,813,628 (+)NCBINCBI36Build 36hg18NCBI36
Build 349106,704,932 - 106,853,344NCBI
Celera980,129,626 - 80,278,036 (+)NCBICelera
Cytogenetic Map9q31.2NCBI
HuRef979,228,691 - 79,377,100 (+)NCBIHuRef
CHM1_19109,772,762 - 109,921,142 (+)NCBICHM1_1
T2T-CHM13v2.09119,036,267 - 119,189,919 (+)NCBIT2T-CHM13v2.0
Zfp462
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39454,942,038 - 55,083,563 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl454,945,048 - 55,083,563 (+)EnsemblGRCm39 Ensembl
GRCm38454,944,491 - 55,083,563 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl454,945,048 - 55,083,563 (+)EnsemblGRCm38mm10GRCm38
MGSCv37454,960,817 - 55,096,435 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36455,041,277 - 55,102,704 (+)NCBIMGSCv36mm8
Celera454,863,764 - 55,006,024 (+)NCBICelera
Cytogenetic Map4B2NCBI
cM Map429.5NCBI
Zfp462
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8574,465,383 - 74,606,020 (+)NCBIGRCr8
mRatBN7.2569,670,085 - 69,810,729 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl569,670,328 - 69,810,327 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0571,679,841 - 71,824,077 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl571,742,911 - 71,823,139 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0575,851,111 - 75,987,972 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4572,167,944 - 72,960,561 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera568,539,404 - 68,675,674 (+)NCBICelera
Cytogenetic Map5q24NCBI
Znf462
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541919,727,926 - 19,823,080 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541919,730,432 - 19,871,189 (-)NCBIChiLan1.0ChiLan1.0
ZNF462
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21132,389,816 - 32,543,418 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1932,392,185 - 32,545,787 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0978,015,173 - 78,168,766 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19106,204,605 - 106,357,848 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9106,267,333 - 106,357,848 (+)Ensemblpanpan1.1panPan2
ZNF462
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11162,398,415 - 62,535,289 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1162,450,060 - 62,535,121 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1160,796,792 - 60,933,578 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01163,539,169 - 63,676,144 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1163,539,726 - 63,675,769 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11162,062,856 - 62,199,597 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01162,073,021 - 62,209,883 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01162,774,423 - 62,911,389 (+)NCBIUU_Cfam_GSD_1.0
Znf462
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947177,618,949 - 177,755,651 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365595,510,892 - 5,596,528 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365595,510,933 - 5,644,727 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF462
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1248,031,631 - 248,179,784 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11248,029,136 - 248,181,792 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21278,447,492 - 278,558,903 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF462
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11232,532,853 - 32,687,262 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1232,520,334 - 32,685,464 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603510,005,048 - 10,157,013 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Znf462
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247584,490,035 - 4,639,378 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247584,490,604 - 4,650,629 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZNF462
289 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021224.6(ZNF462):c.1234_1235insAA (p.Ser412Ter) insertion not provided [RCV000519108] Chr9:106925146..106925147 [GRCh38]
Chr9:109687427..109687428 [GRCh37]
Chr9:9q31.2		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q31.2(chr9:106998471-107651321)x3 copy number gain See cases [RCV000052235] Chr9:106998471..107651321 [GRCh38]
Chr9:109760752..110413602 [GRCh37]
Chr9:108800573..109453423 [NCBI36]
Chr9:9q31.2		 uncertain significance
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 copy number loss See cases [RCV000052921] Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32		 pathogenic
NM_021224.4(ZNF462):c.4837C>T (p.Pro1613Ser) single nucleotide variant Malignant melanoma [RCV000068484] Chr9:106928749 [GRCh38]
Chr9:109691030 [GRCh37]
Chr9:108730851 [NCBI36]
Chr9:9q31.2		 not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1 copy number loss See cases [RCV000134375] Chr9:95061030..108695569 [GRCh38]
Chr9:97823312..111457849 [GRCh37]
Chr9:96863133..110497670 [NCBI36]
Chr9:9q22.32-31.3		 pathogenic
GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1 copy number loss See cases [RCV000134976] Chr9:103767420..112984794 [GRCh38]
Chr9:106529701..115747074 [GRCh37]
Chr9:105569522..114786895 [NCBI36]
Chr9:9q31.1-32		 pathogenic
GRCh38/hg38 9q31.2(chr9:106178482-107049249)x3 copy number gain See cases [RCV000138016] Chr9:106178482..107049249 [GRCh38]
Chr9:108940763..109811530 [GRCh37]
Chr9:107980584..108851351 [NCBI36]
Chr9:9q31.2		 likely benign
GRCh38/hg38 9q31.2(chr9:106830931-107428889)x3 copy number gain See cases [RCV000138152] Chr9:106830931..107428889 [GRCh38]
Chr9:109593212..110191170 [GRCh37]
Chr9:108633033..109230991 [NCBI36]
Chr9:9q31.2		 likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1 copy number loss See cases [RCV000138281] Chr9:99024205..109947890 [GRCh38]
Chr9:101786487..112710170 [GRCh37]
Chr9:100826308..111749991 [NCBI36]
Chr9:9q22.33-31.3		 pathogenic|likely pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9q31.1-31.2(chr9:104810184-107473921)x3 copy number gain See cases [RCV000140793] Chr9:104810184..107473921 [GRCh38]
Chr9:107572465..110236202 [GRCh37]
Chr9:106612286..109276023 [NCBI36]
Chr9:9q31.1-31.2		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_021224.6(ZNF462):c.5680T>G (p.Cys1894Gly) single nucleotide variant not specified [RCV000209859] Chr9:106929592 [GRCh38]
Chr9:109691873 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2015T>C (p.Val672Ala) single nucleotide variant not provided [RCV000518998] Chr9:106925927 [GRCh38]
Chr9:109688208 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_021224.6(ZNF462):c.2536A>G (p.Lys846Glu) single nucleotide variant not provided [RCV002281348] Chr9:106926448 [GRCh38]
Chr9:109688729 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2656T>C (p.Tyr886His) single nucleotide variant not provided [RCV003314208] Chr9:106926568 [GRCh38]
Chr9:109688849 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6829C>T (p.Arg2277Ter) single nucleotide variant Weiss-kruszka syndrome [RCV003314533] Chr9:106974270 [GRCh38]
Chr9:109736551 [GRCh37]
Chr9:9q31.2		 likely pathogenic
NM_021224.6(ZNF462):c.3515C>G (p.Pro1172Arg) single nucleotide variant Premature ovarian failure [RCV001270215] Chr9:106927427 [GRCh38]
Chr9:109689708 [GRCh37]
Chr9:9q31.2		 likely pathogenic
NM_021224.6(ZNF462):c.173A>C (p.Glu58Ala) single nucleotide variant not provided [RCV002288019] Chr9:106923556 [GRCh38]
Chr9:109685837 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4745_4746del (p.Cys1582fs) microsatellite not provided [RCV002283327] Chr9:106928654..106928655 [GRCh38]
Chr9:109690935..109690936 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.3202C>T (p.Arg1068Ter) single nucleotide variant not provided [RCV000578860] Chr9:106927114 [GRCh38]
Chr9:109689395 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.831_834del (p.Arg277fs) deletion not provided [RCV000656294] Chr9:106924740..106924743 [GRCh38]
Chr9:109687021..109687024 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.3898C>T (p.Arg1300Ter) single nucleotide variant not provided [RCV000627291] Chr9:106927810 [GRCh38]
Chr9:109690091 [GRCh37]
Chr9:9q31.2		 likely pathogenic
NM_021224.6(ZNF462):c.2977_2979delinsTGGTG (p.Pro993fs) indel not provided [RCV000732897] Chr9:106926889..106926891 [GRCh38]
Chr9:109689170..109689172 [GRCh37]
Chr9:9q31.2		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_021224.6(ZNF462):c.3787C>T (p.Arg1263Ter) single nucleotide variant Craniosynostosis syndrome [RCV000449793]|Weiss-kruszka syndrome [RCV000853085] Chr9:106927699 [GRCh38]
Chr9:109689980 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.4263del (p.Glu1422fs) deletion Craniosynostosis syndrome [RCV000450382] Chr9:106928174 [GRCh38]
Chr9:109690455 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.2979_2980delinsA (p.Val994fs) indel Craniosynostosis syndrome [RCV000451535]|Weiss-kruszka syndrome [RCV000853086]|not provided [RCV001008082] Chr9:106926891..106926892 [GRCh38]
Chr9:109689172..109689173 [GRCh37]
Chr9:9q31.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1 copy number loss See cases [RCV000447957] Chr9:103271401..113948226 [GRCh37]
Chr9:9q31.1-31.3		 pathogenic
t(9;13)(q31.2;q22.1) translocation not provided [RCV000509424] Chr9:9q31.2 pathogenic
NM_021224.6(ZNF462):c.466G>A (p.Glu156Lys) single nucleotide variant Inborn genetic diseases [RCV003294865] Chr9:106924378 [GRCh38]
Chr9:109686659 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.272G>C (p.Gly91Ala) single nucleotide variant Inborn genetic diseases [RCV003289022] Chr9:106924184 [GRCh38]
Chr9:109686465 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_021224.6(ZNF462):c.1754C>T (p.Thr585Met) single nucleotide variant Inborn genetic diseases [RCV003302269] Chr9:106925666 [GRCh38]
Chr9:109687947 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.5264A>G (p.Gln1755Arg) single nucleotide variant Inborn genetic diseases [RCV003257167] Chr9:106929176 [GRCh38]
Chr9:109691457 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4189A>C (p.Asn1397His) single nucleotide variant Inborn genetic diseases [RCV003251306] Chr9:106928101 [GRCh38]
Chr9:109690382 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.7159G>A (p.Glu2387Lys) single nucleotide variant not provided [RCV003313705] Chr9:107003396 [GRCh38]
Chr9:109765677 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5248A>G (p.Lys1750Glu) single nucleotide variant Inborn genetic diseases [RCV003276760] Chr9:106929160 [GRCh38]
Chr9:109691441 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3 copy number gain not provided [RCV000683161] Chr9:108664157..115356416 [GRCh37]
Chr9:9q31.2-32		 likely pathogenic
GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1 copy number loss not provided [RCV000683163] Chr9:106487247..114541579 [GRCh37]
Chr9:9q31.1-31.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.2(chr9:109441481-110151512)x3 copy number gain not provided [RCV000748592] Chr9:109441481..110151512 [GRCh37]
Chr9:9q31.2		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_021224.6(ZNF462):c.2542del (p.Cys848fs) deletion Weiss-kruszka syndrome [RCV000853088] Chr9:106926454 [GRCh38]
Chr9:109688735 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.4165C>T (p.Gln1389Ter) single nucleotide variant Weiss-kruszka syndrome [RCV000853091] Chr9:106928077 [GRCh38]
Chr9:109690358 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.5193_5195del (p.Ala1732del) deletion not provided [RCV003314916] Chr9:106929103..106929105 [GRCh38]
Chr9:109691384..109691386 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5983A>C (p.Asn1995His) single nucleotide variant Inborn genetic diseases [RCV003268743] Chr9:106930660 [GRCh38]
Chr9:109692941 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1552del (p.Val518fs) deletion Weiss-kruszka syndrome [RCV000986128] Chr9:106925463 [GRCh38]
Chr9:109687744 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.3779C>T (p.Thr1260Met) single nucleotide variant ZNF462-related condition [RCV003918500]|not provided [RCV000972593] Chr9:106927691 [GRCh38]
Chr9:109689972 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.238T>C (p.Leu80=) single nucleotide variant ZNF462-related condition [RCV003912852]|not provided [RCV000900092] Chr9:106924150 [GRCh38]
Chr9:109686431 [GRCh37]
Chr9:9q31.2		 benign|likely benign
NM_021224.6(ZNF462):c.441C>A (p.Ser147=) single nucleotide variant ZNF462-related condition [RCV003960805]|not provided [RCV000969052] Chr9:106924353 [GRCh38]
Chr9:109686634 [GRCh37]
Chr9:9q31.2		 benign|likely benign
NM_021224.6(ZNF462):c.3996A>G (p.Gln1332=) single nucleotide variant not provided [RCV000880877] Chr9:106927908 [GRCh38]
Chr9:109690189 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.2967G>A (p.Ala989=) single nucleotide variant not provided [RCV000901552] Chr9:106926879 [GRCh38]
Chr9:109689160 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.1446G>A (p.Ser482=) single nucleotide variant ZNF462-related condition [RCV003930675]|not provided [RCV000886735] Chr9:106925358 [GRCh38]
Chr9:109687639 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.4017T>C (p.Tyr1339=) single nucleotide variant not provided [RCV000886736] Chr9:106927929 [GRCh38]
Chr9:109690210 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.3290G>T (p.Gly1097Val) single nucleotide variant Inborn genetic diseases [RCV003248505] Chr9:106927202 [GRCh38]
Chr9:109689483 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.7190A>G (p.Glu2397Gly) single nucleotide variant Weiss-kruszka syndrome [RCV000986129] Chr9:107009545 [GRCh38]
Chr9:109771826 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1772_1775del (p.Pro591fs) microsatellite not provided [RCV001009135] Chr9:106925680..106925683 [GRCh38]
Chr9:109687961..109687964 [GRCh37]
Chr9:9q31.2		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_021224.6(ZNF462):c.5745T>G (p.Asn1915Lys) single nucleotide variant not provided [RCV001564470] Chr9:106929657 [GRCh38]
Chr9:109691938 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.763C>T (p.Arg255Ter) single nucleotide variant Weiss-kruszka syndrome [RCV000853089]|not provided [RCV003229869] Chr9:106924675 [GRCh38]
Chr9:109686956 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.882dup (p.Ser295fs) duplication Weiss-kruszka syndrome [RCV000853090]|not provided [RCV001008948] Chr9:106924789..106924790 [GRCh38]
Chr9:109687070..109687071 [GRCh37]
Chr9:9q31.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_021224.6(ZNF462):c.1643C>T (p.Pro548Leu) single nucleotide variant Inborn genetic diseases [RCV003249903]|not provided [RCV003883976] Chr9:106925555 [GRCh38]
Chr9:109687836 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4947C>G (p.Phe1649Leu) single nucleotide variant not provided [RCV003313578] Chr9:106928859 [GRCh38]
Chr9:109691140 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1444T>C (p.Ser482Pro) single nucleotide variant not provided [RCV003126988] Chr9:106925356 [GRCh38]
Chr9:109687637 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.623C>T (p.Pro208Leu) single nucleotide variant Inborn genetic diseases [RCV003239680]|not provided [RCV003434731] Chr9:106924535 [GRCh38]
Chr9:109686816 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.3859G>A (p.Asp1287Asn) single nucleotide variant not specified [RCV003317937] Chr9:106927771 [GRCh38]
Chr9:109690052 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6536CTG[2] (p.Ala2181del) microsatellite not specified [RCV003317938] Chr9:106972112..106972114 [GRCh38]
Chr9:109734393..109734395 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1095T>C (p.Tyr365=) single nucleotide variant not provided [RCV001688006] Chr9:106925007 [GRCh38]
Chr9:109687288 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.1210A>G (p.Met404Val) single nucleotide variant Weiss-kruszka syndrome [RCV002243293]|ZNF462-related condition [RCV003983962]|not provided [RCV001530677] Chr9:106925122 [GRCh38]
Chr9:109687403 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.5145del (p.Tyr1716fs) deletion Weiss-kruszka syndrome [RCV000853087] Chr9:106929057 [GRCh38]
Chr9:109691338 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.577A>G (p.Thr193Ala) single nucleotide variant Inborn genetic diseases [RCV002539319]|not provided [RCV000883883] Chr9:106924489 [GRCh38]
Chr9:109686770 [GRCh37]
Chr9:9q31.2		 benign|likely benign
NM_021224.6(ZNF462):c.5984A>G (p.Asn1995Ser) single nucleotide variant Weiss-kruszka syndrome [RCV002488049]|ZNF462-related condition [RCV003916127]|not provided [RCV000963497] Chr9:106930661 [GRCh38]
Chr9:109692942 [GRCh37]
Chr9:9q31.2		 benign|likely benign
NM_021224.6(ZNF462):c.1641A>G (p.Pro547=) single nucleotide variant not provided [RCV000952565] Chr9:106925553 [GRCh38]
Chr9:109687834 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.5328G>A (p.Ser1776=) single nucleotide variant Weiss-kruszka syndrome [RCV002245786]|ZNF462-related condition [RCV003928408]|not provided [RCV000966379] Chr9:106929240 [GRCh38]
Chr9:109691521 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.6227C>T (p.Ala2076Val) single nucleotide variant Weiss-kruszka syndrome [RCV002470337] Chr9:106935613 [GRCh38]
Chr9:109697894 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2966C>T (p.Ala989Val) single nucleotide variant Weiss-kruszka syndrome [RCV002470600] Chr9:106926878 [GRCh38]
Chr9:109689159 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1052C>G (p.Pro351Arg) single nucleotide variant not provided [RCV002464683] Chr9:106924964 [GRCh38]
Chr9:109687245 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4276C>A (p.Pro1426Thr) single nucleotide variant Inborn genetic diseases [RCV003355838]|See cases [RCV002253014] Chr9:106928188 [GRCh38]
Chr9:109690469 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5941C>T (p.Arg1981Ter) single nucleotide variant Weiss-kruszka syndrome [RCV002466385] Chr9:106930618 [GRCh38]
Chr9:109692899 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.6671_6672insG (p.Asp2224fs) insertion Weiss-kruszka syndrome [RCV001028032] Chr9:106972248..106972249 [GRCh38]
Chr9:109734529..109734530 [GRCh37]
Chr9:9q31.2		 likely pathogenic
NM_021224.6(ZNF462):c.3700C>T (p.Arg1234Ter) single nucleotide variant Weiss-kruszka syndrome [RCV001706868] Chr9:106927612 [GRCh38]
Chr9:109689893 [GRCh37]
Chr9:9q31.2		 pathogenic|likely pathogenic
NM_021224.6(ZNF462):c.1946C>T (p.Pro649Leu) single nucleotide variant not provided [RCV001565211] Chr9:106925858 [GRCh38]
Chr9:109688139 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.6631del (p.Arg2211fs) deletion Metopic ridging-ptosis-facial dysmorphism syndrome [RCV001254681] Chr9:106972207 [GRCh38]
Chr9:109734488 [GRCh37]
Chr9:9q31.2		 likely pathogenic
NM_021224.6(ZNF462):c.6068_6072del (p.Asp2023fs) deletion Weiss-kruszka syndrome [RCV001254182] Chr9:106932500..106932504 [GRCh38]
Chr9:109694781..109694785 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.4087C>T (p.Pro1363Ser) single nucleotide variant Seizure [RCV001255045] Chr9:106927999 [GRCh38]
Chr9:109690280 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6620G>A (p.Arg2207Lys) single nucleotide variant Inborn genetic diseases [RCV001266649] Chr9:106972197 [GRCh38]
Chr9:109734478 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6214_6215del (p.His2072fs) microsatellite Inborn genetic diseases [RCV001265956] Chr9:106935597..106935598 [GRCh38]
Chr9:109697878..109697879 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.3649C>T (p.Arg1217Ter) single nucleotide variant not provided [RCV001280702] Chr9:106927561 [GRCh38]
Chr9:109689842 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.3601G>A (p.Gly1201Arg) single nucleotide variant Intellectual disability [RCV001281462] Chr9:106927513 [GRCh38]
Chr9:109689794 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1679_1696del (p.Leu560_Pro565del) deletion Inborn genetic diseases [RCV002545038]|not provided [RCV001311017] Chr9:106925578..106925595 [GRCh38]
Chr9:109687859..109687876 [GRCh37]
Chr9:9q31.2		 likely benign|uncertain significance
NM_021224.6(ZNF462):c.2339A>G (p.Asp780Gly) single nucleotide variant Weiss-kruszka syndrome [RCV001331190] Chr9:106926251 [GRCh38]
Chr9:109688532 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6139C>T (p.His2047Tyr) single nucleotide variant not provided [RCV001352097] Chr9:106935525 [GRCh38]
Chr9:109697806 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2977C>A (p.Pro993Thr) single nucleotide variant not provided [RCV002284684] Chr9:106926889 [GRCh38]
Chr9:109689170 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1173G>C (p.Glu391Asp) single nucleotide variant Weiss-kruszka syndrome [RCV001331189] Chr9:106925085 [GRCh38]
Chr9:109687366 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1872_1875del (p.Phe625fs) microsatellite not provided [RCV001390602] Chr9:106925779..106925782 [GRCh38]
Chr9:109688060..109688063 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.2859del (p.Asn954fs) deletion not provided [RCV001682648] Chr9:106926771 [GRCh38]
Chr9:109689052 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.7355A>T (p.His2452Leu) single nucleotide variant ZNF462-related condition [RCV003975939]|not provided [RCV001684746] Chr9:107010864 [GRCh38]
Chr9:109773145 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.6431C>A (p.Ser2144Ter) single nucleotide variant Weiss-kruszka syndrome [RCV001528175] Chr9:106972008 [GRCh38]
Chr9:109734289 [GRCh37]
Chr9:9q31.2		 likely pathogenic
NM_021224.6(ZNF462):c.628G>A (p.Val210Ile) single nucleotide variant not provided [RCV001727482] Chr9:106924540 [GRCh38]
Chr9:109686821 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.220+1G>A single nucleotide variant Weiss-kruszka syndrome [RCV001728020] Chr9:106923604 [GRCh38]
Chr9:109685885 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.2748_2749insT (p.Asn917Ter) insertion Weiss-kruszka syndrome [RCV003127439] Chr9:106926660..106926661 [GRCh38]
Chr9:109688941..109688942 [GRCh37]
Chr9:9q31.2		 likely pathogenic
NM_021224.6(ZNF462):c.3666T>C (p.Asn1222=) single nucleotide variant Weiss-kruszka syndrome [RCV002243453]|not provided [RCV001732539] Chr9:106927578 [GRCh38]
Chr9:109689859 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.2935G>A (p.Glu979Lys) single nucleotide variant not provided [RCV001756346] Chr9:106926847 [GRCh38]
Chr9:109689128 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.805A>G (p.Met269Val) single nucleotide variant not provided [RCV001756989] Chr9:106924717 [GRCh38]
Chr9:109686998 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5456C>G (p.Thr1819Arg) single nucleotide variant not specified [RCV001733712] Chr9:106929368 [GRCh38]
Chr9:109691649 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1976A>T (p.Gln659Leu) single nucleotide variant not provided [RCV001767005] Chr9:106925888 [GRCh38]
Chr9:109688169 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6644G>A (p.Gly2215Asp) single nucleotide variant not provided [RCV001772669] Chr9:106972221 [GRCh38]
Chr9:109734502 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3673G>T (p.Val1225Leu) single nucleotide variant not provided [RCV001773137] Chr9:106927585 [GRCh38]
Chr9:109689866 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1642C>T (p.Pro548Ser) single nucleotide variant not provided [RCV001774012] Chr9:106925554 [GRCh38]
Chr9:109687835 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.122T>C (p.Val41Ala) single nucleotide variant ZNF462-related condition [RCV003948708]|not provided [RCV001774169] Chr9:106923505 [GRCh38]
Chr9:109685786 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5998T>C (p.Ser2000Pro) single nucleotide variant not provided [RCV001772667] Chr9:106930675 [GRCh38]
Chr9:109692956 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3559C>T (p.Pro1187Ser) single nucleotide variant Weiss-kruszka syndrome [RCV002243463]|ZNF462-related condition [RCV003976176]|not provided [RCV001786756] Chr9:106927471 [GRCh38]
Chr9:109689752 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.5631C>A (p.Asp1877Glu) single nucleotide variant not provided [RCV001757179] Chr9:106929543 [GRCh38]
Chr9:109691824 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6520G>C (p.Val2174Leu) single nucleotide variant not provided [RCV001774376] Chr9:106972097 [GRCh38]
Chr9:109734378 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5313G>C (p.Leu1771Phe) single nucleotide variant not provided [RCV001754262]|not specified [RCV003487775] Chr9:106929225 [GRCh38]
Chr9:109691506 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.7180G>A (p.Glu2394Lys) single nucleotide variant not provided [RCV001797457] Chr9:107003417 [GRCh38]
Chr9:109765698 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3645G>C (p.Lys1215Asn) single nucleotide variant not provided [RCV001758103] Chr9:106927557 [GRCh38]
Chr9:109689838 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3481G>A (p.Glu1161Lys) single nucleotide variant not provided [RCV001816510] Chr9:106927393 [GRCh38]
Chr9:109689674 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2051C>T (p.Pro684Leu) single nucleotide variant not provided [RCV001814754] Chr9:106925963 [GRCh38]
Chr9:109688244 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.7430T>C (p.Ile2477Thr) single nucleotide variant not provided [RCV001806911] Chr9:107010939 [GRCh38]
Chr9:109773220 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5516A>T (p.Gln1839Leu) single nucleotide variant not provided [RCV002024418] Chr9:106929428 [GRCh38]
Chr9:109691709 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
NM_021224.6(ZNF462):c.4261G>A (p.Glu1421Lys) single nucleotide variant Weiss-kruszka syndrome [RCV001837228]|ZNF462-related condition [RCV003948757] Chr9:106928173 [GRCh38]
Chr9:109690454 [GRCh37]
Chr9:9q31.2		 likely benign|uncertain significance
NM_021224.6(ZNF462):c.4252C>G (p.Leu1418Val) single nucleotide variant Weiss-kruszka syndrome [RCV001837408] Chr9:106928164 [GRCh38]
Chr9:109690445 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2029del (p.Arg677fs) deletion Weiss-kruszka syndrome [RCV001843844] Chr9:106925941 [GRCh38]
Chr9:109688222 [GRCh37]
Chr9:9q31.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_021224.6(ZNF462):c.3060G>C (p.Lys1020Asn) single nucleotide variant Weiss-kruszka syndrome [RCV001839303] Chr9:106926972 [GRCh38]
Chr9:109689253 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1351C>T (p.Arg451Ter) single nucleotide variant Weiss-kruszka syndrome [RCV002052106] Chr9:106925263 [GRCh38]
Chr9:109687544 [GRCh37]
Chr9:9q31.2		 likely pathogenic
GRCh37/hg19 9q31.1-31.2(chr9:102858276-110624997)x3 copy number gain not provided [RCV001834515] Chr9:102858276..110624997 [GRCh37]
Chr9:9q31.1-31.2		 uncertain significance
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9q31.2-32(chr9:109265628-117650999) copy number loss not specified [RCV002052828] Chr9:109265628..117650999 [GRCh37]
Chr9:9q31.2-32		 likely pathogenic
NM_021224.6(ZNF462):c.4588G>T (p.Val1530Leu) single nucleotide variant Weiss-kruszka syndrome [RCV001839255] Chr9:106928500 [GRCh38]
Chr9:109690781 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2449C>G (p.Leu817Val) single nucleotide variant not provided [RCV002037148] Chr9:106926361 [GRCh38]
Chr9:109688642 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1918C>T (p.Pro640Ser) single nucleotide variant not provided [RCV001963663] Chr9:106925830 [GRCh38]
Chr9:109688111 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4793A>G (p.Lys1598Arg) single nucleotide variant not provided [RCV001869920] Chr9:106928705 [GRCh38]
Chr9:109690986 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5974C>T (p.Gln1992Ter) single nucleotide variant not provided [RCV002014515] Chr9:106930651 [GRCh38]
Chr9:109692932 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.6013-143T>C single nucleotide variant not provided [RCV002214496] Chr9:106932303 [GRCh38]
Chr9:109694584 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.2638A>C (p.Asn880His) single nucleotide variant not provided [RCV002223372] Chr9:106926550 [GRCh38]
Chr9:109688831 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5531_5544del (p.Leu1844fs) deletion not provided [RCV002214495] Chr9:106929441..106929454 [GRCh38]
Chr9:109691722..109691735 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.4241A>T (p.Glu1414Val) single nucleotide variant Weiss-kruszka syndrome [RCV002227681] Chr9:106928153 [GRCh38]
Chr9:109690434 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4997A>C (p.Lys1666Thr) single nucleotide variant not provided [RCV002221948]   uncertain significance
NM_021224.6(ZNF462):c.890C>G (p.Thr297Ser) single nucleotide variant not provided [RCV002221884]   uncertain significance
NM_021224.6(ZNF462):c.5098G>A (p.Ala1700Thr) single nucleotide variant not provided [RCV002221929]   uncertain significance
NM_021224.6(ZNF462):c.3053A>G (p.Asn1018Ser) single nucleotide variant Inborn genetic diseases [RCV003242733] Chr9:106926965 [GRCh38]
Chr9:109689246 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4178_4179dup (p.Trp1394fs) duplication Weiss-kruszka syndrome [RCV003148253] Chr9:106928087..106928088 [GRCh38]
Chr9:109690368..109690369 [GRCh37]
Chr9:9q31.2		 likely pathogenic
NM_021224.6(ZNF462):c.6215A>G (p.His2072Arg) single nucleotide variant not provided [RCV003156679] Chr9:106935601 [GRCh38]
Chr9:109697882 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1952C>T (p.Ser651Phe) single nucleotide variant not provided [RCV003129101] Chr9:106925864 [GRCh38]
Chr9:109688145 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1834C>G (p.Leu612Val) single nucleotide variant not provided [RCV003156643] Chr9:106925746 [GRCh38]
Chr9:109688027 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6089G>T (p.Cys2030Phe) single nucleotide variant not provided [RCV003149181] Chr9:106932522 [GRCh38]
Chr9:109694803 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5483A>G (p.Asn1828Ser) single nucleotide variant Weiss-kruszka syndrome [RCV002245195] Chr9:106929395 [GRCh38]
Chr9:109691676 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.219A>G (p.Ser73=) single nucleotide variant not provided [RCV003235924] Chr9:106923602 [GRCh38]
Chr9:109685883 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5206A>G (p.Ile1736Val) single nucleotide variant Weiss-kruszka syndrome [RCV002496199]|not provided [RCV002263509] Chr9:106929118 [GRCh38]
Chr9:109691399 [GRCh37]
Chr9:9q31.2		 benign|likely benign
NM_021224.6(ZNF462):c.3724AAG[1] (p.Lys1243del) microsatellite not provided [RCV002269529] Chr9:106927634..106927636 [GRCh38]
Chr9:109689915..109689917 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3292_3293insGGCCCCCCCCCCCCCCCCC (p.Ser1098fs) insertion Weiss-kruszka syndrome [RCV002288445] Chr9:106927204..106927205 [GRCh38]
Chr9:109689485..109689486 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4100A>G (p.Lys1367Arg) single nucleotide variant not provided [RCV002274667] Chr9:106928012 [GRCh38]
Chr9:109690293 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6601G>A (p.Gly2201Ser) single nucleotide variant Weiss-kruszka syndrome [RCV002266678] Chr9:106972178 [GRCh38]
Chr9:109734459 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6696-13A>G single nucleotide variant not provided [RCV002267356] Chr9:106974124 [GRCh38]
Chr9:109736405 [GRCh37]
Chr9:9q31.2		 uncertain significance
NC_000009.12:g.106860520T>G single nucleotide variant not provided [RCV002276206] Chr9:106860520 [GRCh38]
Chr9:109622801 [GRCh37]
Chr9:9q31.2		 benign
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_021224.6(ZNF462):c.3111dup (p.Ala1038fs) duplication not specified [RCV002285114] Chr9:106927020..106927021 [GRCh38]
Chr9:109689301..109689302 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.4825dup (p.Ser1609fs) duplication Weiss-kruszka syndrome [RCV002289156] Chr9:106928733..106928734 [GRCh38]
Chr9:109691014..109691015 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.4885C>T (p.Pro1629Ser) single nucleotide variant Weiss-kruszka syndrome [RCV002273065] Chr9:106928797 [GRCh38]
Chr9:109691078 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3047G>A (p.Cys1016Tyr) single nucleotide variant Weiss-kruszka syndrome [RCV002277751] Chr9:106926959 [GRCh38]
Chr9:109689240 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3798A>T (p.Lys1266Asn) single nucleotide variant not specified [RCV003236273] Chr9:106927710 [GRCh38]
Chr9:109689991 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.388G>C (p.Val130Leu) single nucleotide variant not provided [RCV002286950] Chr9:106924300 [GRCh38]
Chr9:109686581 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2289A>G (p.Arg763=) single nucleotide variant not provided [RCV002293206] Chr9:106926201 [GRCh38]
Chr9:109688482 [GRCh37]
Chr9:9q31.2		 benign
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_021224.6(ZNF462):c.3622G>A (p.Val1208Ile) single nucleotide variant not provided [RCV002281462] Chr9:106927534 [GRCh38]
Chr9:109689815 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2263T>C (p.Phe755Leu) single nucleotide variant not provided [RCV002263508] Chr9:106926175 [GRCh38]
Chr9:109688456 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.2121T>G (p.Ile707Met) single nucleotide variant not provided [RCV002293205] Chr9:106926033 [GRCh38]
Chr9:109688314 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6013-11T>A single nucleotide variant Weiss-kruszka syndrome [RCV003148451] Chr9:106932435 [GRCh38]
Chr9:109694716 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1460C>T (p.Ala487Val) single nucleotide variant Inborn genetic diseases [RCV003262171] Chr9:106925372 [GRCh38]
Chr9:109687653 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3904G>A (p.Ala1302Thr) single nucleotide variant not provided [RCV002469534] Chr9:106927816 [GRCh38]
Chr9:109690097 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1735C>A (p.Gln579Lys) single nucleotide variant not provided [RCV003231787] Chr9:106925647 [GRCh38]
Chr9:109687928 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6919T>C (p.Phe2307Leu) single nucleotide variant not provided [RCV002469577] Chr9:106984272 [GRCh38]
Chr9:109746553 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1115A>T (p.Asn372Ile) single nucleotide variant not provided [RCV002300795] Chr9:106925027 [GRCh38]
Chr9:109687308 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6807G>A (p.Met2269Ile) single nucleotide variant not provided [RCV002300794] Chr9:106974248 [GRCh38]
Chr9:109736529 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.7111A>T (p.Met2371Leu) single nucleotide variant not provided [RCV002300746] Chr9:107003348 [GRCh38]
Chr9:109765629 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.7301T>G (p.Leu2434Arg) single nucleotide variant not provided [RCV002302642] Chr9:107009656 [GRCh38]
Chr9:109771937 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1749_1772del (p.Pro584_Pro591del) deletion not provided [RCV002305907] Chr9:106925651..106925674 [GRCh38]
Chr9:109687932..109687955 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6942C>A (p.Ser2314Arg) single nucleotide variant not provided [RCV002462494] Chr9:106984295 [GRCh38]
Chr9:109746576 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4534G>C (p.Gly1512Arg) single nucleotide variant Inborn genetic diseases [RCV002771655] Chr9:106928446 [GRCh38]
Chr9:109690727 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.7050G>C (p.Glu2350Asp) single nucleotide variant Inborn genetic diseases [RCV002992106]|ZNF462-related condition [RCV003906616] Chr9:106984403 [GRCh38]
Chr9:109746684 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.2523G>C (p.Arg841Ser) single nucleotide variant Inborn genetic diseases [RCV002749744] Chr9:106926435 [GRCh38]
Chr9:109688716 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.511T>G (p.Ser171Ala) single nucleotide variant Inborn genetic diseases [RCV002729099] Chr9:106924423 [GRCh38]
Chr9:109686704 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5870T>C (p.Val1957Ala) single nucleotide variant not provided [RCV002511478] Chr9:106930547 [GRCh38]
Chr9:109692828 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.927C>G (p.Ser309Arg) single nucleotide variant Inborn genetic diseases [RCV002882647] Chr9:106924839 [GRCh38]
Chr9:109687120 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.7244C>T (p.Pro2415Leu) single nucleotide variant Inborn genetic diseases [RCV002882387] Chr9:107009599 [GRCh38]
Chr9:109771880 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1648C>T (p.Pro550Ser) single nucleotide variant Inborn genetic diseases [RCV002974525] Chr9:106925560 [GRCh38]
Chr9:109687841 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.5512G>C (p.Ala1838Pro) single nucleotide variant Inborn genetic diseases [RCV002754643] Chr9:106929424 [GRCh38]
Chr9:109691705 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.414T>A (p.Ser138Arg) single nucleotide variant Inborn genetic diseases [RCV002773054] Chr9:106924326 [GRCh38]
Chr9:109686607 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2219G>T (p.Arg740Met) single nucleotide variant not provided [RCV002511273] Chr9:106926131 [GRCh38]
Chr9:109688412 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3937del (p.His1313fs) deletion Weiss-kruszka syndrome [RCV002776563] Chr9:106927848 [GRCh38]
Chr9:109690129 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.3533G>A (p.Arg1178Gln) single nucleotide variant Inborn genetic diseases [RCV002753674] Chr9:106927445 [GRCh38]
Chr9:109689726 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2042A>G (p.Asn681Ser) single nucleotide variant Inborn genetic diseases [RCV002864332] Chr9:106925954 [GRCh38]
Chr9:109688235 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4540G>A (p.Val1514Ile) single nucleotide variant Inborn genetic diseases [RCV003083101]|not provided [RCV003097628] Chr9:106928452 [GRCh38]
Chr9:109690733 [GRCh37]
Chr9:9q31.2		 likely benign|uncertain significance
NM_021224.6(ZNF462):c.4094A>G (p.Glu1365Gly) single nucleotide variant Inborn genetic diseases [RCV002734153] Chr9:106928006 [GRCh38]
Chr9:109690287 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2283G>A (p.Trp761Ter) single nucleotide variant not provided [RCV002512385] Chr9:106926195 [GRCh38]
Chr9:109688476 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.1016C>T (p.Ser339Leu) single nucleotide variant Inborn genetic diseases [RCV002773053] Chr9:106924928 [GRCh38]
Chr9:109687209 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5282G>A (p.Arg1761Gln) single nucleotide variant Inborn genetic diseases [RCV002864840] Chr9:106929194 [GRCh38]
Chr9:109691475 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5240C>T (p.Ser1747Phe) single nucleotide variant Weiss-kruszka syndrome [RCV002463418] Chr9:106929152 [GRCh38]
Chr9:109691433 [GRCh37]
Chr9:9q31.2		 likely pathogenic
NM_021224.6(ZNF462):c.3038C>T (p.Thr1013Ile) single nucleotide variant Inborn genetic diseases [RCV002818267]|not specified [RCV003994514] Chr9:106926950 [GRCh38]
Chr9:109689231 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2986C>T (p.Arg996Cys) single nucleotide variant Inborn genetic diseases [RCV002974058] Chr9:106926898 [GRCh38]
Chr9:109689179 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4759G>A (p.Gly1587Ser) single nucleotide variant Inborn genetic diseases [RCV002849265] Chr9:106928671 [GRCh38]
Chr9:109690952 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2281T>C (p.Trp761Arg) single nucleotide variant Inborn genetic diseases [RCV002981612] Chr9:106926193 [GRCh38]
Chr9:109688474 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.2338G>A (p.Asp780Asn) single nucleotide variant Inborn genetic diseases [RCV002762378] Chr9:106926250 [GRCh38]
Chr9:109688531 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1319A>T (p.Gln440Leu) single nucleotide variant Inborn genetic diseases [RCV002950080] Chr9:106925231 [GRCh38]
Chr9:109687512 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.838C>A (p.Gln280Lys) single nucleotide variant Inborn genetic diseases [RCV002703791]|not provided [RCV003457207] Chr9:106924750 [GRCh38]
Chr9:109687031 [GRCh37]
Chr9:9q31.2		 likely benign|uncertain significance
NM_021224.6(ZNF462):c.4520T>C (p.Ile1507Thr) single nucleotide variant Inborn genetic diseases [RCV003001490] Chr9:106928432 [GRCh38]
Chr9:109690713 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6609C>G (p.Ile2203Met) single nucleotide variant not provided [RCV002510173] Chr9:106972186 [GRCh38]
Chr9:109734467 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5497G>A (p.Glu1833Lys) single nucleotide variant Inborn genetic diseases [RCV002978691]|ZNF462-related condition [RCV003906609] Chr9:106929409 [GRCh38]
Chr9:109691690 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.3568A>G (p.Asn1190Asp) single nucleotide variant Inborn genetic diseases [RCV002799772] Chr9:106927480 [GRCh38]
Chr9:109689761 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4403C>T (p.Thr1468Ile) single nucleotide variant Inborn genetic diseases [RCV002782274] Chr9:106928315 [GRCh38]
Chr9:109690596 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4816G>A (p.Asp1606Asn) single nucleotide variant Inborn genetic diseases [RCV002916277] Chr9:106928728 [GRCh38]
Chr9:109691009 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3517A>G (p.Ile1173Val) single nucleotide variant Inborn genetic diseases [RCV002987448] Chr9:106927429 [GRCh38]
Chr9:109689710 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4135G>A (p.Val1379Ile) single nucleotide variant Inborn genetic diseases [RCV002713004] Chr9:106928047 [GRCh38]
Chr9:109690328 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.1076T>G (p.Leu359Trp) single nucleotide variant Inborn genetic diseases [RCV003161828]|not provided [RCV003085103] Chr9:106924988 [GRCh38]
Chr9:109687269 [GRCh37]
Chr9:9q31.2		 benign|likely benign|uncertain significance
NM_021224.6(ZNF462):c.635T>C (p.Leu212Pro) single nucleotide variant not provided [RCV002741694] Chr9:106924547 [GRCh38]
Chr9:109686828 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1064G>A (p.Gly355Asp) single nucleotide variant Inborn genetic diseases [RCV002701586] Chr9:106924976 [GRCh38]
Chr9:109687257 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.7423A>G (p.Ile2475Val) single nucleotide variant Inborn genetic diseases [RCV002698023] Chr9:107010932 [GRCh38]
Chr9:109773213 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1559A>T (p.Tyr520Phe) single nucleotide variant Inborn genetic diseases [RCV002698263] Chr9:106925471 [GRCh38]
Chr9:109687752 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1783G>A (p.Ala595Thr) single nucleotide variant Inborn genetic diseases [RCV002891665]|not provided [RCV003434623] Chr9:106925695 [GRCh38]
Chr9:109687976 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.3503G>C (p.Arg1168Pro) single nucleotide variant Inborn genetic diseases [RCV002986814] Chr9:106927415 [GRCh38]
Chr9:109689696 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3748G>A (p.Val1250Ile) single nucleotide variant Inborn genetic diseases [RCV002802354]|ZNF462-related condition [RCV003906584] Chr9:106927660 [GRCh38]
Chr9:109689941 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.3265A>G (p.Met1089Val) single nucleotide variant Inborn genetic diseases [RCV002698974]|not provided [RCV003434678] Chr9:106927177 [GRCh38]
Chr9:109689458 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4129G>A (p.Glu1377Lys) single nucleotide variant Inborn genetic diseases [RCV002770045] Chr9:106928041 [GRCh38]
Chr9:109690322 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4826C>T (p.Ser1609Phe) single nucleotide variant Inborn genetic diseases [RCV002941598]|ZNF462-related condition [RCV003900904] Chr9:106928738 [GRCh38]
Chr9:109691019 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.2246T>C (p.Ile749Thr) single nucleotide variant Inborn genetic diseases [RCV002768786] Chr9:106926158 [GRCh38]
Chr9:109688439 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1646C>T (p.Pro549Leu) single nucleotide variant Inborn genetic diseases [RCV002768947]|ZNF462-related condition [RCV003928936]|not provided [RCV003434686] Chr9:106925558 [GRCh38]
Chr9:109687839 [GRCh37]
Chr9:9q31.2		 benign|likely benign
NM_021224.6(ZNF462):c.845G>A (p.Gly282Glu) single nucleotide variant not provided [RCV002715000] Chr9:106924757 [GRCh38]
Chr9:109687038 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2345A>G (p.Asn782Ser) single nucleotide variant Inborn genetic diseases [RCV002989391] Chr9:106926257 [GRCh38]
Chr9:109688538 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.928C>G (p.Arg310Gly) single nucleotide variant not provided [RCV002628462] Chr9:106924840 [GRCh38]
Chr9:109687121 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6061C>T (p.Arg2021Cys) single nucleotide variant Inborn genetic diseases [RCV002768839] Chr9:106932494 [GRCh38]
Chr9:109694775 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.264C>A (p.His88Gln) single nucleotide variant Inborn genetic diseases [RCV002831685] Chr9:106924176 [GRCh38]
Chr9:109686457 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5770C>T (p.Arg1924Cys) single nucleotide variant Inborn genetic diseases [RCV002747369] Chr9:106929682 [GRCh38]
Chr9:109691963 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.889A>C (p.Thr297Pro) single nucleotide variant Inborn genetic diseases [RCV002935317] Chr9:106924801 [GRCh38]
Chr9:109687082 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2945A>T (p.Asn982Ile) single nucleotide variant Inborn genetic diseases [RCV002809658] Chr9:106926857 [GRCh38]
Chr9:109689138 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.946A>G (p.Thr316Ala) single nucleotide variant Inborn genetic diseases [RCV002944445] Chr9:106924858 [GRCh38]
Chr9:109687139 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5797A>T (p.Ser1933Cys) single nucleotide variant Weiss-kruszka syndrome [RCV003148174] Chr9:106929709 [GRCh38]
Chr9:109691990 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4477C>T (p.His1493Tyr) single nucleotide variant ZNF462-related condition [RCV003393216] Chr9:106928389 [GRCh38]
Chr9:109690670 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6283A>T (p.Ile2095Phe) single nucleotide variant not provided [RCV003229360] Chr9:106938963 [GRCh38]
Chr9:109701244 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2359G>A (p.Ala787Thr) single nucleotide variant Inborn genetic diseases [RCV003180950] Chr9:106926271 [GRCh38]
Chr9:109688552 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2690A>G (p.Asn897Ser) single nucleotide variant Inborn genetic diseases [RCV003192284] Chr9:106926602 [GRCh38]
Chr9:109688883 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.718C>T (p.Arg240Ter) single nucleotide variant Weiss-kruszka syndrome [RCV003223486] Chr9:106924630 [GRCh38]
Chr9:109686911 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.4147G>C (p.Asp1383His) single nucleotide variant Weiss-kruszka syndrome [RCV003225827] Chr9:106928059 [GRCh38]
Chr9:109690340 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6571C>T (p.Leu2191Phe) single nucleotide variant Weiss-kruszka syndrome [RCV003139438] Chr9:106972148 [GRCh38]
Chr9:109734429 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1298G>C (p.Arg433Thr) single nucleotide variant Weiss-kruszka syndrome [RCV003139439] Chr9:106925210 [GRCh38]
Chr9:109687491 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5971G>A (p.Val1991Ile) single nucleotide variant Inborn genetic diseases [RCV003197932] Chr9:106930648 [GRCh38]
Chr9:109692929 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3478G>A (p.Val1160Ile) single nucleotide variant Weiss-kruszka syndrome [RCV003140501] Chr9:106927390 [GRCh38]
Chr9:109689671 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5114C>G (p.Thr1705Ser) single nucleotide variant not provided [RCV003223310] Chr9:106929026 [GRCh38]
Chr9:109691307 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6339C>T (p.Pro2113=) single nucleotide variant not provided [RCV003223311] Chr9:106939019 [GRCh38]
Chr9:109701300 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.6554A>C (p.Gln2185Pro) single nucleotide variant not provided [RCV003218971] Chr9:106972131 [GRCh38]
Chr9:109734412 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3502dup (p.Arg1168fs) duplication Weiss-kruszka syndrome [RCV003226109] Chr9:106927408..106927409 [GRCh38]
Chr9:109689689..109689690 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.2980G>T (p.Val994Leu) single nucleotide variant not provided [RCV003228249] Chr9:106926892 [GRCh38]
Chr9:109689173 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2496_2498dup (p.Glu832_Asn833insLys) duplication not specified [RCV003324217] Chr9:106926406..106926407 [GRCh38]
Chr9:109688687..109688688 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6724G>A (p.Gly2242Arg) single nucleotide variant not provided [RCV003324960] Chr9:106974165 [GRCh38]
Chr9:109736446 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3803G>A (p.Arg1268Lys) single nucleotide variant not specified [RCV003324216] Chr9:106927715 [GRCh38]
Chr9:109689996 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1 copy number loss Weiss-kruszka syndrome [RCV003327720] Chr9:102995214..108903040 [GRCh38]
Chr9:9q31.1-31.3		 pathogenic
NM_021224.6(ZNF462):c.6561T>C (p.Thr2187=) single nucleotide variant not provided [RCV003327218] Chr9:106972138 [GRCh38]
Chr9:109734419 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4651G>A (p.Asp1551Asn) single nucleotide variant not provided [RCV003425737] Chr9:106928563 [GRCh38]
Chr9:109690844 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5397C>T (p.His1799=) single nucleotide variant not provided [RCV003425739] Chr9:106929309 [GRCh38]
Chr9:109691590 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.3220A>G (p.Arg1074Gly) single nucleotide variant Weiss-kruszka syndrome [RCV003340767] Chr9:106927132 [GRCh38]
Chr9:109689413 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4878A>C (p.Glu1626Asp) single nucleotide variant Inborn genetic diseases [RCV003342806] Chr9:106928790 [GRCh38]
Chr9:109691071 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4733G>A (p.Arg1578Gln) single nucleotide variant Weiss-kruszka syndrome [RCV003458922]|not specified [RCV003331790] Chr9:106928645 [GRCh38]
Chr9:109690926 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.7313+1G>A single nucleotide variant not provided [RCV003332641] Chr9:107009669 [GRCh38]
Chr9:109771950 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6062G>A (p.Arg2021His) single nucleotide variant Inborn genetic diseases [RCV003359758] Chr9:106932495 [GRCh38]
Chr9:109694776 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2428C>G (p.His810Asp) single nucleotide variant Inborn genetic diseases [RCV003363229] Chr9:106926340 [GRCh38]
Chr9:109688621 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.3281C>T (p.Ser1094Phe) single nucleotide variant Inborn genetic diseases [RCV003369222] Chr9:106927193 [GRCh38]
Chr9:109689474 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.7393T>C (p.Ser2465Pro) single nucleotide variant Inborn genetic diseases [RCV003374552] Chr9:107010902 [GRCh38]
Chr9:109773183 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.178T>C (p.Ser60Pro) single nucleotide variant Inborn genetic diseases [RCV003347331] Chr9:106923561 [GRCh38]
Chr9:109685842 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4324G>A (p.Ala1442Thr) single nucleotide variant Inborn genetic diseases [RCV003386258] Chr9:106928236 [GRCh38]
Chr9:109690517 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2726del (p.His909fs) deletion Weiss-kruszka syndrome [RCV003448892] Chr9:106926638 [GRCh38]
Chr9:109688919 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.6303C>G (p.His2101Gln) single nucleotide variant Weiss-kruszka syndrome [RCV003448890] Chr9:106938983 [GRCh38]
Chr9:109701264 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1151del (p.Asn384fs) deletion Weiss-kruszka syndrome [RCV003448888] Chr9:106925061 [GRCh38]
Chr9:109687342 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.1608C>T (p.Pro536=) single nucleotide variant not provided [RCV003430168] Chr9:106925520 [GRCh38]
Chr9:109687801 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.3314C>T (p.Pro1105Leu) single nucleotide variant Inborn genetic diseases [RCV004364630]|not provided [RCV003430172] Chr9:106927226 [GRCh38]
Chr9:109689507 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4864G>A (p.Glu1622Lys) single nucleotide variant not provided [RCV003430180] Chr9:106928776 [GRCh38]
Chr9:109691057 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5862A>G (p.Leu1954=) single nucleotide variant not provided [RCV003430183] Chr9:106930539 [GRCh38]
Chr9:109692820 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.507C>A (p.Tyr169Ter) single nucleotide variant Weiss-kruszka syndrome [RCV003448889] Chr9:106924419 [GRCh38]
Chr9:109686700 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.4390G>A (p.Ala1464Thr) single nucleotide variant Weiss-kruszka syndrome [RCV003448891] Chr9:106928302 [GRCh38]
Chr9:109690583 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1690C>T (p.Gln564Ter) single nucleotide variant Weiss-kruszka syndrome [RCV003448887] Chr9:106925602 [GRCh38]
Chr9:109687883 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.4092C>T (p.Ala1364=) single nucleotide variant not provided [RCV003425735] Chr9:106928004 [GRCh38]
Chr9:109690285 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.7308C>T (p.His2436=) single nucleotide variant not provided [RCV003425745] Chr9:107009663 [GRCh38]
Chr9:109771944 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.3742G>A (p.Val1248Met) single nucleotide variant ZNF462-related condition [RCV003399773] Chr9:106927654 [GRCh38]
Chr9:109689935 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3965C>T (p.Thr1322Met) single nucleotide variant Weiss-kruszka syndrome [RCV003389098] Chr9:106927877 [GRCh38]
Chr9:109690158 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.181T>A (p.Ser61Thr) single nucleotide variant not provided [RCV003430166] Chr9:106923564 [GRCh38]
Chr9:109685845 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3774C>T (p.Asp1258=) single nucleotide variant not provided [RCV003430174] Chr9:106927686 [GRCh38]
Chr9:109689967 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.6832+72C>T single nucleotide variant not provided [RCV003430193] Chr9:106974345 [GRCh38]
Chr9:109736626 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.6627T>C (p.His2209=) single nucleotide variant not provided [RCV003430189] Chr9:106972204 [GRCh38]
Chr9:109734485 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4180del (p.Trp1394fs) deletion Weiss-kruszka syndrome [RCV003448886] Chr9:106928092 [GRCh38]
Chr9:109690373 [GRCh37]
Chr9:9q31.2		 pathogenic|likely pathogenic
NM_021224.6(ZNF462):c.1068A>G (p.Leu356=) single nucleotide variant not provided [RCV003425732] Chr9:106924980 [GRCh38]
Chr9:109687261 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.3315G>A (p.Pro1105=) single nucleotide variant not provided [RCV003425734] Chr9:106927227 [GRCh38]
Chr9:109689508 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.6567C>T (p.Ala2189=) single nucleotide variant not provided [RCV003425742] Chr9:106972144 [GRCh38]
Chr9:109734425 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.2172A>T (p.Glu724Asp) single nucleotide variant ZNF462-related condition [RCV003412180] Chr9:106926084 [GRCh38]
Chr9:109688365 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3115A>G (p.Ser1039Gly) single nucleotide variant ZNF462-related condition [RCV003406178] Chr9:106927027 [GRCh38]
Chr9:109689308 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3507A>C (p.Pro1169=) single nucleotide variant ZNF462-related condition [RCV003966434]|not provided [RCV003430173] Chr9:106927419 [GRCh38]
Chr9:109689700 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4239G>A (p.Val1413=) single nucleotide variant not provided [RCV003430177] Chr9:106928151 [GRCh38]
Chr9:109690432 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.6063C>T (p.Arg2021=) single nucleotide variant not provided [RCV003430184] Chr9:106932496 [GRCh38]
Chr9:109694777 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.6381C>G (p.His2127Gln) single nucleotide variant not provided [RCV003430186] Chr9:106939061 [GRCh38]
Chr9:109701342 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6432A>G (p.Ser2144=) single nucleotide variant not provided [RCV003430187] Chr9:106972009 [GRCh38]
Chr9:109734290 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.410G>A (p.Gly137Glu) single nucleotide variant Inborn genetic diseases [RCV004364629]|not provided [RCV003425729] Chr9:106924322 [GRCh38]
Chr9:109686603 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.863T>G (p.Val288Gly) single nucleotide variant not provided [RCV003425730] Chr9:106924775 [GRCh38]
Chr9:109687056 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5665A>T (p.Asn1889Tyr) single nucleotide variant not provided [RCV003425740] Chr9:106929577 [GRCh38]
Chr9:109691858 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6163C>T (p.Arg2055Ter) single nucleotide variant Weiss-kruszka syndrome [RCV003886625]|ZNF462-related condition [RCV003404672] Chr9:106935549 [GRCh38]
Chr9:109697830 [GRCh37]
Chr9:9q31.2		 pathogenic|likely pathogenic
NM_021224.6(ZNF462):c.4385A>G (p.Asn1462Ser) single nucleotide variant ZNF462-related condition [RCV003412337] Chr9:106928297 [GRCh38]
Chr9:109690578 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5539C>G (p.Arg1847Gly) single nucleotide variant not provided [RCV003443943] Chr9:106929451 [GRCh38]
Chr9:109691732 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4472A>G (p.Lys1491Arg) single nucleotide variant ZNF462-related condition [RCV003416686] Chr9:106928384 [GRCh38]
Chr9:109690665 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.144C>T (p.Ser48=) single nucleotide variant not provided [RCV003430165] Chr9:106923527 [GRCh38]
Chr9:109685808 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.633A>G (p.Ser211=) single nucleotide variant not provided [RCV003430167] Chr9:106924545 [GRCh38]
Chr9:109686826 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.1628C>T (p.Pro543Leu) single nucleotide variant not provided [RCV003430169] Chr9:106925540 [GRCh38]
Chr9:109687821 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.1782C>T (p.Ala594=) single nucleotide variant not provided [RCV003430170] Chr9:106925694 [GRCh38]
Chr9:109687975 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.2437T>A (p.Ser813Thr) single nucleotide variant not provided [RCV003430171] Chr9:106926349 [GRCh38]
Chr9:109688630 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.5244G>A (p.Pro1748=) single nucleotide variant not provided [RCV003430181] Chr9:106929156 [GRCh38]
Chr9:109691437 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.5472G>A (p.Glu1824=) single nucleotide variant ZNF462-related condition [RCV003980951]|not provided [RCV003430182] Chr9:106929384 [GRCh38]
Chr9:109691665 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.6093G>A (p.Ser2031=) single nucleotide variant not provided [RCV003430185] Chr9:106932526 [GRCh38]
Chr9:109694807 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.5156G>A (p.Arg1719His) single nucleotide variant not provided [RCV003442601] Chr9:106929068 [GRCh38]
Chr9:109691349 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4827C>T (p.Ser1609=) single nucleotide variant not provided [RCV003430179] Chr9:106928739 [GRCh38]
Chr9:109691020 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.6832+35G>A single nucleotide variant not provided [RCV003430192] Chr9:106974308 [GRCh38]
Chr9:109736589 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.5013G>A (p.Thr1671=) single nucleotide variant ZNF462-related condition [RCV003929187]|not provided [RCV003425738] Chr9:106928925 [GRCh38]
Chr9:109691206 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.7149G>A (p.Glu2383=) single nucleotide variant not provided [RCV003425744] Chr9:107003386 [GRCh38]
Chr9:109765667 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.928C>T (p.Arg310Trp) single nucleotide variant not provided [RCV003425731] Chr9:106924840 [GRCh38]
Chr9:109687121 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4389C>T (p.Pro1463=) single nucleotide variant ZNF462-related condition [RCV003954207]|not provided [RCV003425736] Chr9:106928301 [GRCh38]
Chr9:109690582 [GRCh37]
Chr9:9q31.2		 benign|likely benign
NM_021224.6(ZNF462):c.6840T>C (p.Arg2280=) single nucleotide variant not provided [RCV003425743] Chr9:106984193 [GRCh38]
Chr9:109746474 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.1701_1715del (p.Gln567_Pro571del) deletion not provided [RCV003425733] Chr9:106925602..106925616 [GRCh38]
Chr9:109687883..109687897 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.6336C>T (p.Leu2112=) single nucleotide variant not provided [RCV003425741] Chr9:106939016 [GRCh38]
Chr9:109701297 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.2675A>G (p.Tyr892Cys) single nucleotide variant ZNF462-related condition [RCV003394475] Chr9:106926587 [GRCh38]
Chr9:109688868 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3160C>G (p.Pro1054Ala) single nucleotide variant Weiss-kruszka syndrome [RCV003448866] Chr9:106927072 [GRCh38]
Chr9:109689353 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3905C>T (p.Ala1302Val) single nucleotide variant not provided [RCV003441444] Chr9:106927817 [GRCh38]
Chr9:109690098 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3868G>A (p.Ala1290Thr) single nucleotide variant not provided [RCV003430175] Chr9:106927780 [GRCh38]
Chr9:109690061 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4093G>A (p.Glu1365Lys) single nucleotide variant not provided [RCV003430176] Chr9:106928005 [GRCh38]
Chr9:109690286 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.4749G>A (p.Pro1583=) single nucleotide variant not provided [RCV003430178] Chr9:106928661 [GRCh38]
Chr9:109690942 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.6565G>C (p.Ala2189Pro) single nucleotide variant not provided [RCV003430188] Chr9:106972142 [GRCh38]
Chr9:109734423 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6804C>T (p.Asn2268=) single nucleotide variant not provided [RCV003430190] Chr9:106974245 [GRCh38]
Chr9:109736526 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.6819C>T (p.Ile2273=) single nucleotide variant not provided [RCV003430191] Chr9:106974260 [GRCh38]
Chr9:109736541 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.1519G>A (p.Glu507Lys) single nucleotide variant not provided [RCV003442634] Chr9:106925431 [GRCh38]
Chr9:109687712 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2926A>G (p.Thr976Ala) single nucleotide variant Inborn genetic diseases [RCV004369925]|Weiss-kruszka syndrome [RCV003984301] Chr9:106926838 [GRCh38]
Chr9:109689119 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5112C>A (p.Tyr1704Ter) single nucleotide variant Weiss-kruszka syndrome [RCV003983801] Chr9:106929024 [GRCh38]
Chr9:109691305 [GRCh37]
Chr9:9q31.2		 likely pathogenic
GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1 copy number loss not specified [RCV003986787] Chr9:102606857..109839724 [GRCh37]
Chr9:9q31.1-31.2		 pathogenic
NM_021224.6(ZNF462):c.5771G>A (p.Arg1924His) single nucleotide variant Weiss-kruszka syndrome [RCV003983796] Chr9:106929683 [GRCh38]
Chr9:109691964 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4231G>C (p.Asp1411His) single nucleotide variant not provided [RCV003704694] Chr9:106928143 [GRCh38]
Chr9:109690424 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6013-32G>A single nucleotide variant not provided [RCV003993183] Chr9:106932414 [GRCh38]
Chr9:109694695 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.3880A>G (p.Thr1294Ala) single nucleotide variant Weiss-kruszka syndrome [RCV003989979] Chr9:106927792 [GRCh38]
Chr9:109690073 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.2235A>G (p.Thr745=) single nucleotide variant ZNF462-related condition [RCV003971673] Chr9:106926147 [GRCh38]
Chr9:109688428 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.145G>A (p.Val49Met) single nucleotide variant Inborn genetic diseases [RCV004489727] Chr9:106923528 [GRCh38]
Chr9:109685809 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.2024C>T (p.Ala675Val) single nucleotide variant Inborn genetic diseases [RCV004489731] Chr9:106925936 [GRCh38]
Chr9:109688217 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3607C>T (p.Arg1203Trp) single nucleotide variant Inborn genetic diseases [RCV004489740] Chr9:106927519 [GRCh38]
Chr9:109689800 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5230A>G (p.Ile1744Val) single nucleotide variant Inborn genetic diseases [RCV004489746] Chr9:106929142 [GRCh38]
Chr9:109691423 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6878A>G (p.Lys2293Arg) single nucleotide variant Inborn genetic diseases [RCV004489755] Chr9:106984231 [GRCh38]
Chr9:109746512 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.982A>G (p.Ile328Val) single nucleotide variant Inborn genetic diseases [RCV004489759] Chr9:106924894 [GRCh38]
Chr9:109687175 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1178A>G (p.Asn393Ser) single nucleotide variant Inborn genetic diseases [RCV004489726] Chr9:106925090 [GRCh38]
Chr9:109687371 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1486A>G (p.Thr496Ala) single nucleotide variant Inborn genetic diseases [RCV004489728] Chr9:106925398 [GRCh38]
Chr9:109687679 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1757A>T (p.Gln586Leu) single nucleotide variant Inborn genetic diseases [RCV004489730] Chr9:106925669 [GRCh38]
Chr9:109687950 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.230C>A (p.Ala77Glu) single nucleotide variant Inborn genetic diseases [RCV004489732] Chr9:106924142 [GRCh38]
Chr9:109686423 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5323C>T (p.Gln1775Ter) single nucleotide variant Weiss-kruszka syndrome [RCV003886357] Chr9:106929235 [GRCh38]
Chr9:109691516 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.3305dup (p.Gln1103fs) duplication Inborn genetic diseases [RCV004489739] Chr9:106927209..106927210 [GRCh38]
Chr9:109689490..109689491 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_021224.6(ZNF462):c.4064C>T (p.Pro1355Leu) single nucleotide variant Inborn genetic diseases [RCV004489743] Chr9:106927976 [GRCh38]
Chr9:109690257 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4927C>T (p.Pro1643Ser) single nucleotide variant Inborn genetic diseases [RCV004489744] Chr9:106928839 [GRCh38]
Chr9:109691120 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5656C>T (p.Arg1886Cys) single nucleotide variant Inborn genetic diseases [RCV004489749] Chr9:106929568 [GRCh38]
Chr9:109691849 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.587C>A (p.Pro196Gln) single nucleotide variant Inborn genetic diseases [RCV004489750] Chr9:106924499 [GRCh38]
Chr9:109686780 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.604A>G (p.Met202Val) single nucleotide variant Inborn genetic diseases [RCV004489752] Chr9:106924516 [GRCh38]
Chr9:109686797 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.*13A>G single nucleotide variant not specified [RCV003994812] Chr9:107011043 [GRCh38]
Chr9:109773324 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4725C>T (p.Gly1575=) single nucleotide variant ZNF462-related condition [RCV003899481] Chr9:106928637 [GRCh38]
Chr9:109690918 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.-31+644G>C single nucleotide variant Weiss-kruszka syndrome [RCV003990027] Chr9:106863999 [GRCh38]
Chr9:109626280 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1709C>T (p.Pro570Leu) single nucleotide variant Inborn genetic diseases [RCV004489729] Chr9:106925621 [GRCh38]
Chr9:109687902 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.313A>G (p.Asn105Asp) single nucleotide variant Inborn genetic diseases [RCV004489733] Chr9:106924225 [GRCh38]
Chr9:109686506 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3203G>A (p.Arg1068Gln) single nucleotide variant Inborn genetic diseases [RCV004489734] Chr9:106927115 [GRCh38]
Chr9:109689396 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3299C>T (p.Pro1100Leu) single nucleotide variant Inborn genetic diseases [RCV004489738] Chr9:106927211 [GRCh38]
Chr9:109689492 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.5254G>A (p.Asp1752Asn) single nucleotide variant Inborn genetic diseases [RCV004489747] Chr9:106929166 [GRCh38]
Chr9:109691447 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.6001G>C (p.Ala2001Pro) single nucleotide variant Inborn genetic diseases [RCV004489751] Chr9:106930678 [GRCh38]
Chr9:109692959 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.662C>T (p.Ala221Val) single nucleotide variant Inborn genetic diseases [RCV004489753] Chr9:106924574 [GRCh38]
Chr9:109686855 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.7177G>T (p.Ala2393Ser) single nucleotide variant Inborn genetic diseases [RCV004489756] Chr9:107003414 [GRCh38]
Chr9:109765695 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.7384A>C (p.Lys2462Gln) single nucleotide variant Inborn genetic diseases [RCV004489757] Chr9:107010893 [GRCh38]
Chr9:109773174 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6144C>T (p.His2048=) single nucleotide variant ZNF462-related condition [RCV003909233] Chr9:106935530 [GRCh38]
Chr9:109697811 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.3306A>C (p.Pro1102=) single nucleotide variant ZNF462-related condition [RCV003909758] Chr9:106927218 [GRCh38]
Chr9:109689499 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.6631C>T (p.Arg2211Trp) single nucleotide variant Inborn genetic diseases [RCV004489754] Chr9:106972208 [GRCh38]
Chr9:109734489 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3221G>T (p.Arg1074Met) single nucleotide variant Inborn genetic diseases [RCV004489735] Chr9:106927133 [GRCh38]
Chr9:109689414 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3227C>G (p.Ser1076Cys) single nucleotide variant Inborn genetic diseases [RCV004489736] Chr9:106927139 [GRCh38]
Chr9:109689420 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.4958A>C (p.His1653Pro) single nucleotide variant Inborn genetic diseases [RCV004489745] Chr9:106928870 [GRCh38]
Chr9:109691151 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.5639T>C (p.Ile1880Thr) single nucleotide variant Inborn genetic diseases [RCV004489748] Chr9:106929551 [GRCh38]
Chr9:109691832 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.7490T>C (p.Leu2497Pro) single nucleotide variant Inborn genetic diseases [RCV004489758] Chr9:107010999 [GRCh38]
Chr9:109773280 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.627C>T (p.Pro209=) single nucleotide variant not provided [RCV003885698] Chr9:106924539 [GRCh38]
Chr9:109686820 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4650C>T (p.His1550=) single nucleotide variant not provided [RCV003885746] Chr9:106928562 [GRCh38]
Chr9:109690843 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4185C>T (p.Ala1395=) single nucleotide variant ZNF462-related condition [RCV003923829] Chr9:106928097 [GRCh38]
Chr9:109690378 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.7058_7077del (p.Val2353fs) deletion Weiss-kruszka syndrome [RCV003985184] Chr9:107003294..107003313 [GRCh38]
Chr9:109765575..109765594 [GRCh37]
Chr9:9q31.2		 likely pathogenic
NM_021224.6(ZNF462):c.*2C>T single nucleotide variant ZNF462-related condition [RCV003954383] Chr9:107011032 [GRCh38]
Chr9:109773313 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.2679C>T (p.Ile893=) single nucleotide variant ZNF462-related condition [RCV003959481] Chr9:106926591 [GRCh38]
Chr9:109688872 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.729T>C (p.Phe243=) single nucleotide variant ZNF462-related condition [RCV003934642] Chr9:106924641 [GRCh38]
Chr9:109686922 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4446G>A (p.Leu1482=) single nucleotide variant not provided [RCV003886717] Chr9:106928358 [GRCh38]
Chr9:109690639 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.3076A>G (p.Thr1026Ala) single nucleotide variant ZNF462-related condition [RCV003914451] Chr9:106926988 [GRCh38]
Chr9:109689269 [GRCh37]
Chr9:9q31.2		 benign
NM_021224.6(ZNF462):c.84G>A (p.Thr28=) single nucleotide variant ZNF462-related condition [RCV003957027] Chr9:106923467 [GRCh38]
Chr9:109685748 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.6636C>T (p.Asp2212=) single nucleotide variant ZNF462-related condition [RCV003906803] Chr9:106972213 [GRCh38]
Chr9:109734494 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.1644G>A (p.Pro548=) single nucleotide variant ZNF462-related condition [RCV003951604] Chr9:106925556 [GRCh38]
Chr9:109687837 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.1650G>A (p.Pro550=) single nucleotide variant ZNF462-related condition [RCV003961701] Chr9:106925562 [GRCh38]
Chr9:109687843 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.3503G>A (p.Arg1168Gln) single nucleotide variant ZNF462-related condition [RCV003949136] Chr9:106927415 [GRCh38]
Chr9:109689696 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.7230T>C (p.Thr2410=) single nucleotide variant ZNF462-related condition [RCV003956685] Chr9:107009585 [GRCh38]
Chr9:109771866 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.5307C>T (p.Cys1769=) single nucleotide variant ZNF462-related condition [RCV003967347] Chr9:106929219 [GRCh38]
Chr9:109691500 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.1157_1158del (p.Asp385_Ser386insTer) microsatellite ZNF462-related condition [RCV003899871] Chr9:106925067..106925068 [GRCh38]
Chr9:109687348..109687349 [GRCh37]
Chr9:9q31.2		 likely pathogenic
NM_021224.6(ZNF462):c.6925T>A (p.Cys2309Ser) single nucleotide variant ZNF462-related condition [RCV003896873] Chr9:106984278 [GRCh38]
Chr9:109746559 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3072C>T (p.Val1024=) single nucleotide variant ZNF462-related condition [RCV003904032] Chr9:106926984 [GRCh38]
Chr9:109689265 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.5423C>T (p.Thr1808Met) single nucleotide variant ZNF462-related condition [RCV003897161] Chr9:106929335 [GRCh38]
Chr9:109691616 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.3888G>A (p.Thr1296=) single nucleotide variant ZNF462-related condition [RCV003929873] Chr9:106927800 [GRCh38]
Chr9:109690081 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.237A>T (p.Ser79=) single nucleotide variant ZNF462-related condition [RCV003951801] Chr9:106924149 [GRCh38]
Chr9:109686430 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4313C>T (p.Pro1438Leu) single nucleotide variant Inborn genetic diseases [RCV004369905]|ZNF462-related condition [RCV003981518] Chr9:106928225 [GRCh38]
Chr9:109690506 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.861T>C (p.Asp287=) single nucleotide variant ZNF462-related condition [RCV003981593] Chr9:106924773 [GRCh38]
Chr9:109687054 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.118A>G (p.Asn40Asp) single nucleotide variant ZNF462-related condition [RCV003973947] Chr9:106923501 [GRCh38]
Chr9:109685782 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.7296T>C (p.His2432=) single nucleotide variant ZNF462-related condition [RCV003959267] Chr9:107009651 [GRCh38]
Chr9:109771932 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.2271C>G (p.Ala757=) single nucleotide variant ZNF462-related condition [RCV003923886] Chr9:106926183 [GRCh38]
Chr9:109688464 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4857C>G (p.Leu1619=) single nucleotide variant ZNF462-related condition [RCV003934296] Chr9:106928769 [GRCh38]
Chr9:109691050 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.5403C>T (p.Ser1801=) single nucleotide variant ZNF462-related condition [RCV003982538] Chr9:106929315 [GRCh38]
Chr9:109691596 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.6263_6268dup (p.Ser2089_Phe2090insCysSer) duplication not provided [RCV003884950] Chr9:106938941..106938942 [GRCh38]
Chr9:109701222..109701223 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.1580G>A (p.Gly527Asp) single nucleotide variant not provided [RCV003886882] Chr9:106925492 [GRCh38]
Chr9:109687773 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.2639A>G (p.Asn880Ser) single nucleotide variant ZNF462-related condition [RCV003919781] Chr9:106926551 [GRCh38]
Chr9:109688832 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.465C>T (p.His155=) single nucleotide variant ZNF462-related condition [RCV003942113] Chr9:106924377 [GRCh38]
Chr9:109686658 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.4853C>T (p.Pro1618Leu) single nucleotide variant not provided [RCV003887621] Chr9:106928765 [GRCh38]
Chr9:109691046 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.7390C>T (p.Pro2464Ser) single nucleotide variant ZNF462-related condition [RCV003971589] Chr9:107010899 [GRCh38]
Chr9:109773180 [GRCh37]
Chr9:9q31.2		 likely benign
NM_021224.6(ZNF462):c.1126G>A (p.Asp376Asn) single nucleotide variant Inborn genetic diseases [RCV004489725] Chr9:106925038 [GRCh38]
Chr9:109687319 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_021224.6(ZNF462):c.6347G>A (p.Arg2116Gln) single nucleotide variant ZNF462-related condition [RCV003896456] Chr9:106939027 [GRCh38]
Chr9:109701308 [GRCh37]
Chr9:9q31.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3406
Count of miRNA genes:1166
Interacting mature miRNAs:1476
Transcripts:ENST00000277225, ENST00000374686, ENST00000427098, ENST00000441147, ENST00000457913, ENST00000469433, ENST00000471032, ENST00000472574, ENST00000479166, ENST00000480607, ENST00000482115, ENST00000483287, ENST00000497489, ENST00000542028
Prediction methods:Microtar, 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.

Markers in Region
D9S1832  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,140,913 - 96,141,068UniSTSGRCh37
GRCh379109,662,416 - 109,662,594UniSTSGRCh37
Build 369108,702,237 - 108,702,415RGDNCBI36
Celera980,166,643 - 80,166,821RGD
Celera1376,988,706 - 76,988,861UniSTS
Cytogenetic Map13q31-q34UniSTS
Cytogenetic Map9q31.2UniSTS
HuRef979,265,710 - 79,265,888UniSTS
Marshfield Genetic Map9112.6UniSTS
Marshfield Genetic Map9112.6RGD
Genethon Genetic Map9112.6UniSTS
D9S187E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379109,687,508 - 109,687,577UniSTSGRCh37
Build 369108,727,329 - 108,727,398RGDNCBI36
Celera980,191,737 - 80,191,806RGD
Cytogenetic Map9q31.2UniSTS
HuRef979,290,805 - 79,290,874UniSTS
UniSTS:47729  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379109,736,996 - 109,737,226UniSTSGRCh37
Build 369108,776,817 - 108,777,047RGDNCBI36
Celera980,241,225 - 80,241,455RGD
HuRef979,340,293 - 79,340,523UniSTS
ZNF462__4851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379109,773,156 - 109,773,859UniSTSGRCh37
Build 369108,812,977 - 108,813,680RGDNCBI36
Celera980,277,385 - 80,278,088RGD
HuRef979,376,449 - 79,377,152UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 57 10 205 17 19 9 569 33 426 78 310 313 14 309
Low 2264 2167 1204 292 672 141 3784 2107 3297 322 1135 1289 161 1 1204 2476 3 2
Below cutoff 116 744 309 308 1000 308 3 53 10 18 13 8 3 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB058706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  F13685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000277225   ⟹   ENSP00000277225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9106,863,166 - 107,013,634 (+)Ensembl
RefSeq Acc Id: ENST00000374686   ⟹   ENSP00000363818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9106,927,264 - 107,011,508 (+)Ensembl
RefSeq Acc Id: ENST00000427098   ⟹   ENSP00000405837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9106,938,977 - 106,974,970 (+)Ensembl
RefSeq Acc Id: ENST00000441147   ⟹   ENSP00000397306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9106,927,378 - 107,011,482 (+)Ensembl
RefSeq Acc Id: ENST00000469433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9106,932,608 - 106,974,220 (+)Ensembl
RefSeq Acc Id: ENST00000471032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9106,932,621 - 106,939,094 (+)Ensembl
RefSeq Acc Id: ENST00000472574   ⟹   ENSP00000476222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9106,863,166 - 106,930,575 (+)Ensembl
RefSeq Acc Id: ENST00000479166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9106,932,637 - 106,972,225 (+)Ensembl
RefSeq Acc Id: ENST00000480607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9106,926,925 - 106,932,462 (+)Ensembl
RefSeq Acc Id: ENST00000482115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9106,972,142 - 106,995,682 (+)Ensembl
RefSeq Acc Id: ENST00000483287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9107,009,189 - 107,011,018 (+)Ensembl
RefSeq Acc Id: ENST00000497489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9106,929,680 - 106,935,621 (+)Ensembl
RefSeq Acc Id: NM_001347997   ⟹   NP_001334926
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,166 - 107,013,634 (+)NCBI
T2T-CHM13v2.09119,039,438 - 119,189,919 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021224   ⟹   NP_067047
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,166 - 107,013,634 (+)NCBI
GRCh379109,622,469 - 109,775,525 (+)NCBI
Build 369108,665,199 - 108,813,628 (+)NCBI Archive
Celera980,129,626 - 80,278,036 (+)RGD
HuRef979,228,691 - 79,377,100 (+)ENTREZGENE
CHM1_19109,772,762 - 109,921,142 (+)NCBI
T2T-CHM13v2.09119,039,438 - 119,189,919 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717209   ⟹   XP_006717272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,166 - 107,013,634 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717211   ⟹   XP_006717274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,919,096 - 107,013,634 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717212   ⟹   XP_006717275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,860,158 - 107,013,634 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717215   ⟹   XP_006717278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,625 - 107,013,634 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717216   ⟹   XP_006717279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,625 - 107,013,634 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014996   ⟹   XP_016870485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,625 - 107,013,634 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014997   ⟹   XP_016870486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,870,945 - 107,013,634 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014998   ⟹   XP_016870487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,625 - 107,013,634 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447629   ⟹   XP_024303397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,864,142 - 107,013,634 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423661   ⟹   XP_047279617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,625 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423662   ⟹   XP_047279618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,860,158 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423663   ⟹   XP_047279619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,625 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423664   ⟹   XP_047279620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,625 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423665   ⟹   XP_047279621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,919,096 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423666   ⟹   XP_047279622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,913,833 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423667   ⟹   XP_047279623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,910,388 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423668   ⟹   XP_047279624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,166 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423669   ⟹   XP_047279625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,860,158 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423670   ⟹   XP_047279626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,625 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423671   ⟹   XP_047279627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,870,945 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423672   ⟹   XP_047279628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,860,158 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423673   ⟹   XP_047279629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,625 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423674   ⟹   XP_047279630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,913,834 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423675   ⟹   XP_047279631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,864,145 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423676   ⟹   XP_047279632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,860,158 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423677   ⟹   XP_047279633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,625 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423678   ⟹   XP_047279634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,870,946 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423679   ⟹   XP_047279635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,166 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423680   ⟹   XP_047279636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,860,158 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423681   ⟹   XP_047279637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,860,158 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423682   ⟹   XP_047279638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,166 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423683   ⟹   XP_047279639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,860,158 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423684   ⟹   XP_047279640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,860,158 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_047423685   ⟹   XP_047279641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,860,158 - 107,013,634 (+)NCBI
RefSeq Acc Id: XM_054363434   ⟹   XP_054219409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,039,438 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363435   ⟹   XP_054219410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,036,686 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363436   ⟹   XP_054219411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,039,901 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363437   ⟹   XP_054219412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,047,242 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363438   ⟹   XP_054219413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,036,396 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363439   ⟹   XP_054219414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,039,901 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363440   ⟹   XP_054219415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,039,901 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363441   ⟹   XP_054219416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,094,409 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363442   ⟹   XP_054219417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,094,409 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363443   ⟹   XP_054219418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,040,438 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363444   ⟹   XP_054219419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,090,127 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363445   ⟹   XP_054219420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,039,438 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363446   ⟹   XP_054219421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,039,901 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363447   ⟹   XP_054219422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,036,425 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363448   ⟹   XP_054219423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,039,901 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363449   ⟹   XP_054219424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,047,242 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363450   ⟹   XP_054219425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,039,901 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363451   ⟹   XP_054219426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,036,684 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363452   ⟹   XP_054219427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,039,901 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363453   ⟹   XP_054219428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,090,128 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363454   ⟹   XP_054219429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,040,441 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363455   ⟹   XP_054219430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,047,243 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363456   ⟹   XP_054219431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,039,884 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363457   ⟹   XP_054219432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,036,267 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363458   ⟹   XP_054219433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,039,438 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363459   ⟹   XP_054219434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,036,792 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363460   ⟹   XP_054219435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,036,428 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363461   ⟹   XP_054219436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,039,438 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363462   ⟹   XP_054219437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,036,428 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363463   ⟹   XP_054219438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,039,902 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363464   ⟹   XP_054219439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,036,427 - 119,189,919 (+)NCBI
RefSeq Acc Id: XM_054363465   ⟹   XP_054219440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09119,036,686 - 119,189,919 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001334926 (Get FASTA)   NCBI Sequence Viewer  
  NP_067047 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717272 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717274 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717275 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717278 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717279 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870485 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870486 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870487 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303397 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279617 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279618 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279619 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279620 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279621 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279622 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279623 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279624 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279625 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279626 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279627 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279628 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279629 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279630 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279631 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279632 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279633 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279634 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279635 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279636 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279637 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279638 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279639 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279640 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279641 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219409 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219410 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219411 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219412 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219413 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219414 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219415 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219416 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219417 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219418 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219419 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219420 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219421 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219422 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219423 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219424 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219425 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219426 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219427 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219428 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219429 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219430 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219431 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219432 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219433 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219434 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219435 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219436 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219437 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219438 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219439 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219440 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH36884 (Get FASTA)   NCBI Sequence Viewer  
  BAB47432 (Get FASTA)   NCBI Sequence Viewer  
  BAC87142 (Get FASTA)   NCBI Sequence Viewer  
  BAG63410 (Get FASTA)   NCBI Sequence Viewer  
  CAB94868 (Get FASTA)   NCBI Sequence Viewer  
  CAH18698 (Get FASTA)   NCBI Sequence Viewer  
  CAH56168 (Get FASTA)   NCBI Sequence Viewer  
  EAW59010 (Get FASTA)   NCBI Sequence Viewer  
  EAW59011 (Get FASTA)   NCBI Sequence Viewer  
  EAW59012 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000277225
  ENSP00000277225.5
  ENSP00000363818.2
  ENSP00000397306.2
  ENSP00000405837.1
  ENSP00000476222.1
GenBank Protein Q96JM2 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_067047   ⟸   NM_021224
- Peptide Label: isoform 1
- UniProtKB: Q5T0T4 (UniProtKB/Swiss-Prot),   Q8N408 (UniProtKB/Swiss-Prot),   Q96JM2 (UniProtKB/Swiss-Prot),   Q63HJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006717275   ⟸   XM_006717212
- Peptide Label: isoform X1
- UniProtKB: Q63HJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006717272   ⟸   XM_006717209
- Peptide Label: isoform X1
- UniProtKB: Q63HJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006717278   ⟸   XM_006717215
- Peptide Label: isoform X2
- UniProtKB: Q63HJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006717279   ⟸   XM_006717216
- Peptide Label: isoform X3
- UniProtKB: Q5T0T4 (UniProtKB/Swiss-Prot),   Q8N408 (UniProtKB/Swiss-Prot),   Q96JM2 (UniProtKB/Swiss-Prot),   Q63HJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006717274   ⟸   XM_006717211
- Peptide Label: isoform X1
- UniProtKB: Q63HJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870485   ⟸   XM_017014996
- Peptide Label: isoform X1
- UniProtKB: Q63HJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870487   ⟸   XM_017014998
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016870486   ⟸   XM_017014997
- Peptide Label: isoform X1
- UniProtKB: Q63HJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334926   ⟸   NM_001347997
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: XP_024303397   ⟸   XM_024447629
- Peptide Label: isoform X1
- UniProtKB: Q63HJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000405837   ⟸   ENST00000427098
RefSeq Acc Id: ENSP00000363818   ⟸   ENST00000374686
RefSeq Acc Id: ENSP00000397306   ⟸   ENST00000441147
RefSeq Acc Id: ENSP00000476222   ⟸   ENST00000472574
RefSeq Acc Id: ENSP00000277225   ⟸   ENST00000277225
RefSeq Acc Id: XP_047279618   ⟸   XM_047423662
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279628   ⟸   XM_047423672
- Peptide Label: isoform X3
- UniProtKB: Q96JM2 (UniProtKB/Swiss-Prot),   Q5T0T4 (UniProtKB/Swiss-Prot),   Q8N408 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279636   ⟸   XM_047423680
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047279641   ⟸   XM_047423685
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047279625   ⟸   XM_047423669
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279632   ⟸   XM_047423676
- Peptide Label: isoform X3
- UniProtKB: Q96JM2 (UniProtKB/Swiss-Prot),   Q5T0T4 (UniProtKB/Swiss-Prot),   Q8N408 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279637   ⟸   XM_047423681
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047279639   ⟸   XM_047423683
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047279640   ⟸   XM_047423684
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047279624   ⟸   XM_047423668
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279635   ⟸   XM_047423679
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047279638   ⟸   XM_047423682
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047279617   ⟸   XM_047423661
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279619   ⟸   XM_047423663
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279620   ⟸   XM_047423664
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279633   ⟸   XM_047423677
- Peptide Label: isoform X3
- UniProtKB: Q96JM2 (UniProtKB/Swiss-Prot),   Q5T0T4 (UniProtKB/Swiss-Prot),   Q8N408 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279626   ⟸   XM_047423670
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279629   ⟸   XM_047423673
- Peptide Label: isoform X3
- UniProtKB: Q96JM2 (UniProtKB/Swiss-Prot),   Q5T0T4 (UniProtKB/Swiss-Prot),   Q8N408 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279631   ⟸   XM_047423675
- Peptide Label: isoform X3
- UniProtKB: Q96JM2 (UniProtKB/Swiss-Prot),   Q5T0T4 (UniProtKB/Swiss-Prot),   Q8N408 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279627   ⟸   XM_047423671
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279634   ⟸   XM_047423678
- Peptide Label: isoform X3
- UniProtKB: Q96JM2 (UniProtKB/Swiss-Prot),   Q5T0T4 (UniProtKB/Swiss-Prot),   Q8N408 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279623   ⟸   XM_047423667
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279622   ⟸   XM_047423666
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279630   ⟸   XM_047423674
- Peptide Label: isoform X3
- UniProtKB: Q96JM2 (UniProtKB/Swiss-Prot),   Q5T0T4 (UniProtKB/Swiss-Prot),   Q8N408 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279621   ⟸   XM_047423665
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219432   ⟸   XM_054363457
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219413   ⟸   XM_054363438
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219422   ⟸   XM_054363447
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219439   ⟸   XM_054363464
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054219435   ⟸   XM_054363460
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054219437   ⟸   XM_054363462
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054219426   ⟸   XM_054363451
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219410   ⟸   XM_054363435
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219440   ⟸   XM_054363465
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054219434   ⟸   XM_054363459
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054219409   ⟸   XM_054363434
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219420   ⟸   XM_054363445
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219433   ⟸   XM_054363458
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054219436   ⟸   XM_054363461
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054219431   ⟸   XM_054363456
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219421   ⟸   XM_054363446
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219425   ⟸   XM_054363450
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219411   ⟸   XM_054363436
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219414   ⟸   XM_054363439
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219415   ⟸   XM_054363440
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219423   ⟸   XM_054363448
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219427   ⟸   XM_054363452
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219438   ⟸   XM_054363463
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054219418   ⟸   XM_054363443
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219429   ⟸   XM_054363454
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219412   ⟸   XM_054363437
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219424   ⟸   XM_054363449
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219430   ⟸   XM_054363455
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219419   ⟸   XM_054363444
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219428   ⟸   XM_054363453
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219417   ⟸   XM_054363442
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219416   ⟸   XM_054363441
- Peptide Label: isoform X1
Protein Domains
C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96JM2-F1-model_v2 AlphaFold Q96JM2 1-2506 view protein structure

Promoters
RGD ID:7215753
Promoter ID:EPDNEW_H13623
Type:initiation region
Name:ZNF462_2
Description:zinc finger protein 462
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13624  EPDNEW_H13625  EPDNEW_H13626  EPDNEW_H13628  EPDNEW_H13627  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,860,158 - 106,860,218EPDNEW
RGD ID:7215755
Promoter ID:EPDNEW_H13624
Type:initiation region
Name:ZNF462_3
Description:zinc finger protein 462
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13623  EPDNEW_H13625  EPDNEW_H13626  EPDNEW_H13628  EPDNEW_H13627  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,862,274 - 106,862,334EPDNEW
RGD ID:7215757
Promoter ID:EPDNEW_H13625
Type:initiation region
Name:ZNF462_6
Description:zinc finger protein 462
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13623  EPDNEW_H13624  EPDNEW_H13626  EPDNEW_H13628  EPDNEW_H13627  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,862,501 - 106,862,561EPDNEW
RGD ID:7215759
Promoter ID:EPDNEW_H13626
Type:initiation region
Name:ZNF462_4
Description:zinc finger protein 462
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13623  EPDNEW_H13624  EPDNEW_H13625  EPDNEW_H13628  EPDNEW_H13627  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,862,709 - 106,862,769EPDNEW
RGD ID:7215767
Promoter ID:EPDNEW_H13627
Type:initiation region
Name:ZNF462_1
Description:zinc finger protein 462
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13623  EPDNEW_H13624  EPDNEW_H13625  EPDNEW_H13626  EPDNEW_H13628  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,166 - 106,863,226EPDNEW
RGD ID:7215763
Promoter ID:EPDNEW_H13628
Type:initiation region
Name:ZNF462_5
Description:zinc finger protein 462
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13623  EPDNEW_H13624  EPDNEW_H13625  EPDNEW_H13626  EPDNEW_H13627  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389106,863,625 - 106,863,685EPDNEW
RGD ID:6808444
Promoter ID:HG_KWN:64414
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid
Transcripts:NM_021224
Position:
Human AssemblyChrPosition (strand)Source
Build 369108,664,851 - 108,665,657 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21684 AgrOrtholog
COSMIC ZNF462 COSMIC
Ensembl Genes ENSG00000148143 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000277225 ENTREZGENE
  ENST00000277225.10 UniProtKB/Swiss-Prot
  ENST00000374686.6 UniProtKB/TrEMBL
  ENST00000427098.1 UniProtKB/TrEMBL
  ENST00000441147.6 UniProtKB/Swiss-Prot
  ENST00000472574.1 UniProtKB/TrEMBL
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000148143 GTEx
HGNC ID HGNC:21684 ENTREZGENE
Human Proteome Map ZNF462 Human Proteome Map
InterPro Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:58499 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 58499 ENTREZGENE
OMIM 617371 OMIM
PANTHER ENHANCER OF VARIEGATION 3-9-RELATED UniProtKB/TrEMBL
  OOCYTE ZINC FINGER PROTEIN XLCOF6-LIKE-RELATED UniProtKB/TrEMBL
  ZINC FINGER PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER PROTEIN UniProtKB/TrEMBL
  ZINC FINGER PROTEIN 462 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134949139 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 H0Y6H9_HUMAN UniProtKB/TrEMBL
  H3BLX4_HUMAN UniProtKB/TrEMBL
  Q5T0T4 ENTREZGENE
  Q63HJ5 ENTREZGENE, UniProtKB/TrEMBL
  Q8N408 ENTREZGENE
  Q96JM2 ENTREZGENE
  U3KQU3_HUMAN UniProtKB/TrEMBL
  ZN462_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5T0T4 UniProtKB/Swiss-Prot
  Q8N408 UniProtKB/Swiss-Prot