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Results: 1 to 20 of 31

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
SGCGAllHighlyPenetrantGO-ESP:0.01007(T)
GMAF:0.00780(T)
Benign/Likely benignclassified by single submitter1323279408
2.
SGCGLung cancerUncertain significanceclassified by single submitter1323228416
3.
SGCGAllHighlyPenetrantGO-ESP:0.04290(C)
GMAF:0.03170(C)
Benign/Likely benign
(Aug 5, 2013)
classified by single submitter1323324350
4.
SGCGAllHighlyPenetrantGO-ESP:0.05690(T)
GMAF:0.08030(T)
Benign/Likely benign
(Sep 19, 2013)
classified by single submitter1323324554
5.
SGCGAllHighlyPenetrantGO-ESP:0.57620(C)
GMAF:0.36320(T)
Benign/Likely benign
(Aug 15, 2013)
classified by multiple submitters1323324370
6.
SGCGAllHighlyPenetrantGO-ESP:0.10241(A)
GMAF:0.07900(A)
Benign/Likely benign
(Aug 15, 2012)
classified by multiple submitters1323250679
7.
SGCGAllHighlyPenetrantGO-ESP:0.47117(G)
GMAF:0.48440(T)
Benign/Likely benign
(Sep 13, 2013)
classified by multiple submitters1323250644
8.
SGCGAllHighlyPenetrantGO-ESP:0.15870(C)
GMAF:0.11160(C)
Benign/Likely benign
(Aug 15, 2013)
classified by multiple submitters1323234643
9.
SGCG, SACSHydronephrosisUncertain significance
(Aug 12, 2011)
classified by single submitter
10.
SGCG, SACSDevelopmental delay and additional significant developmental and morphological phenotypes referred for genetic testingUncertain significance
(Aug 12, 2011)
classified by single submitter
11.
SGCG, SACS, TNFRSF19Global developmental delay, HyperkeratosisUncertain significance
(Aug 12, 2011)
classified by single submitter
12.
SGCGSevere autosomal recessive muscular dystrophy of childhood - North African typePathogenic/Likely pathogenic
(Jun 6, 2012)
classified by single submitter
13.
SGCGSevere autosomal recessive muscular dystrophy of childhood - North African typePathogenic/Likely pathogenic
(Jun 6, 2012)
classified by single submitter
14.
SGCGSevere autosomal recessive muscular dystrophy of childhood - North African typePathogenic/Likely pathogenic
(Jun 6, 2012)
classified by single submitter
15.
MIPEP, SGCG, SACS, TNFRSF19, SPATA13, C1QTNF9B, C1QTNF9B-AS1Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingUncertain significance
(Aug 12, 2011)
classified by single submitter
16.
MIPEP, SGCG, SACS, TNFRSF19, SPATA13, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1AutismUncertain significance
(Aug 12, 2011)
classified by single submitter
17.
MIPEP, SGCG, SACS, TNFRSF19, SPATA13, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingUncertain significance
(Aug 12, 2011)
classified by single submitter
18.
MIPEP, SGCG, SACS, TNFRSF19, SPATA13, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingUncertain significance
(Aug 12, 2011)
classified by single submitter
19.
MIPEP, SGCG, SACS, TNFRSF19, SPATA13, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingUncertain significance
(Aug 12, 2011)
classified by single submitter
20.
MIPEP, SGCG, SACS, TNFRSF19, SPATA13, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testingUncertain significance
(Aug 12, 2011)
classified by single submitter

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