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GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000239873.1

Allele description [Variation Report for GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1]

GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1

Genes:
  • ERC1:ELKS/RAB6-interacting/CAST family member 1 [Gene - OMIM - HGNC]
  • FBXL14:F-box and leucine rich repeat protein 14 [Gene - OMIM - HGNC]
  • FKBP4:FKBP prolyl isomerase 4 [Gene - OMIM - HGNC]
  • IQSEC3:IQ motif and Sec7 domain ArfGEF 3 [Gene - OMIM - HGNC]
  • NINJ2-AS1:NINJ2 antisense RNA 1 [Gene - HGNC]
  • RAD52:RAD52 homolog, DNA repair protein [Gene - OMIM - HGNC]
  • RHNO1:RAD9-HUS1-RAD1 interacting nuclear orphan 1 [Gene - OMIM - HGNC]
  • TEAD4:TEA domain transcription factor 4 [Gene - OMIM - HGNC]
  • TULP3:TUB like protein 3 [Gene - OMIM - HGNC]
  • WNK1:WNK lysine deficient protein kinase 1 [Gene - OMIM - HGNC]
  • WNT5B:Wnt family member 5B [Gene - OMIM - HGNC]
  • ADIPOR2:adiponectin receptor 2 [Gene - OMIM - HGNC]
  • B4GALNT3:beta-1,4-N-acetyl-galactosaminyltransferase 3 [Gene - OMIM - HGNC]
  • CRACR2A:calcium release activated channel regulator 2A [Gene - OMIM - HGNC]
  • CACNA2D4:calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Gene - OMIM - HGNC]
  • CACNA1C:calcium voltage-gated channel subunit alpha1 C [Gene - OMIM - HGNC]
  • CCDC77:coiled-coil domain containing 77 [Gene - HGNC]
  • DCP1B:decapping mRNA 1B [Gene - OMIM - HGNC]
  • FOXM1:forkhead box M1 [Gene - OMIM - HGNC]
  • ITFG2:integrin alpha FG-GAP repeat containing 2 [Gene - OMIM - HGNC]
  • LRTM2:leucine rich repeats and transmembrane domains 2 [Gene - HGNC]
  • KDM5A:lysine demethylase 5A [Gene - OMIM - HGNC]
  • NINJ2:ninjurin 2 [Gene - OMIM - HGNC]
  • NRIP2:nuclear receptor interacting protein 2 [Gene - HGNC]
  • PARP11:poly(ADP-ribose) polymerase family member 11 [Gene - OMIM - HGNC]
  • PRMT8:protein arginine methyltransferase 8 [Gene - OMIM - HGNC]
  • SLC6A12:solute carrier family 6 member 12 [Gene - OMIM - HGNC]
  • SLC6A13:solute carrier family 6 member 13 [Gene - OMIM - HGNC]
  • TSPAN9:tetraspanin 9 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
12p13.33-13.32
Genomic location:
Chr12: 222888 - 3931052 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1
HGVS:
NC_000012.11:g.(?_222888)_(3931052_?)del

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000298518GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jan 20, 2016) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000298518.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023