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GRCh37/hg19 18q22.3-23(chr18:72669936-77889946)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002293965.1

Allele description [Variation Report for GRCh37/hg19 18q22.3-23(chr18:72669936-77889946)x1]

GRCh37/hg19 18q22.3-23(chr18:72669936-77889946)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]
  • KCNG2:potassium voltage-gated channel modifier subfamily G member 2 [Gene - OMIM - HGNC]
  • PTGR3:prostaglandin reductase 3 [Gene - HGNC]
  • RBFA:ribosome binding factor A [Gene - 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: 72669936 - 77889946 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 18q22.3-23(chr18:72669936-77889946)x1
HGVS:

    Condition(s)

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

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002586377Cytogenetics, Genetics Associates, Inc.
    no assertion criteria provided
    		Pathogenicunknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Cytogenetics, Genetics Associates, Inc., SCV002586377.1

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

    Last Updated: Oct 29, 2022