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GRCh37/hg19 18q22.3-23(chr18:72453821-78014123)x1 AND not specified

Germline classification:
Pathogenic (1 submission)
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:
RCV003987280.1

Allele description [Variation Report for GRCh37/hg19 18q22.3-23(chr18:72453821-78014123)x1]

GRCh37/hg19 18q22.3-23(chr18:72453821-78014123)x1

Genes:
  • ADNP2:ADNP homeobox 2 [Gene - OMIM - HGNC]
  • ATP9B:ATPase phospholipid transporting 9B (putative) [Gene - OMIM - HGNC]
  • CTDP1:CTD phosphatase subunit 1 [Gene - OMIM - HGNC]
  • GALR1:galanin receptor 1 [Gene - OMIM - HGNC]
  • HSBP1L1:heat shock factor binding protein 1 like 1 [Gene - HGNC]
  • LINC01879:long intergenic non-protein coding RNA 1879 [Gene - HGNC]
  • LINC00683:long intergenic non-protein coding RNA 683 [Gene - HGNC]
  • MBP:myelin basic protein [Gene - OMIM - HGNC]
  • NFATC1:nuclear factor of activated T cells 1 [Gene - OMIM - HGNC]
  • PARD6G:par-6 family cell polarity regulator gamma [Gene - OMIM - HGNC]
  • KCNG2:potassium voltage-gated channel modifier subfamily G member 2 [Gene - OMIM - HGNC]
  • PTGR3:prostaglandin reductase 3 [Gene - OMIM - HGNC]
  • RBFA:ribosome binding factor A [Gene - OMIM - HGNC]
  • SMIM21:small integral membrane protein 21 [Gene - HGNC]
  • SLC66A2:solute carrier family 66 member 2 [Gene - HGNC]
  • SALL3:spalt like transcription factor 3 [Gene - OMIM - HGNC]
  • TSHZ1:teashirt zinc finger homeobox 1 [Gene - OMIM - HGNC]
  • TXNL4A:thioredoxin like 4A [Gene - OMIM - HGNC]
  • ZNF236:zinc finger protein 236 [Gene - OMIM - HGNC]
  • ZNF407:zinc finger protein 407 [Gene - OMIM - HGNC]
  • ZNF516:zinc finger protein 516 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
18q22.3-23
Genomic location:
Chr18: 72453821 - 78014123 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 18q22.3-23(chr18:72453821-78014123)x1
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    AllHighlyPenetrant
    Identifiers:
    MedGen: CN169374

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004802212ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
    criteria provided, single submitter

    (Constitutional Copy Number Variant Assertion Criteria)    		Pathogenicgermlineclinical testing

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknown1not providednot providednot providednot providedclinical testing

    Details of each submission

    From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV004802212.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot provided1not providednot providednot provided

    Last Updated: Mar 30, 2024