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Results: 1 to 20 of 43

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
HCCSnot providedGO-ESP:0.00218(A)Uncertain significance
(Nov 14, 2013)
classified by single submitterX11112065
2.
HCCSAllHighlyPenetrantBenign/Likely benign
(Dec 3, 2013)
classified by single submitterX11118627
3.
HCCSAllHighlyPenetrantGO-ESP:0.02177(T)
GMAF:0.01090(T)
Benign/Likely benignclassified by single submitterX11114949
4.
HCCSnot providedGO-ESP:0.00009(T)Uncertain significance
(Nov 21, 2012)
classified by single submitterX11118620
5.
HCCSGlobal developmental delay, Muscular hypotonia, Hearing impairment,
Abnormal facial shape, Feeding difficulties in infancy, Seizure
Pathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
6.
HCCSMicrophthalmia syndromic 7Pathogenic/Likely pathogenic
(Aug 18, 2011)
classified by single submitterX11118574
7.
ARHGAP6, HCCSAbnormal facial shapeUncertain significance
(Aug 12, 2011)
classified by single submitter
8.
HCCSMicrophthalmia, syndromic, 7Pathogenic/Likely pathogenic
(Dec 14, 2012)
classified by single submitter
9.
HCCSMicrophthalmia syndromic 7, Microphthalmia, syndromic, 7Pathogenic/Likely pathogenic
(Dec 14, 2012)
classified by multiple submittersX11121652
10.
HCCSMicrophthalmia syndromic 7, Microphthalmia, syndromic, 7Pathogenic/Likely pathogenic
(Dec 14, 2012)
classified by multiple submittersX11120974
11.
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
12.
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
13.
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
14.
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
15.
Global developmental delayPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
16.
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
17.
MacrocephalyPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
18.
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
19.
Short staturePathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter
20.
Global developmental delay, Muscular hypotoniaPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter

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