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Results: 9

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
C19orf12Neurodegeneration with brain iron accumulation 4Pathogenic/Likely pathogenic
(Jan 27, 2014)
classified by single submitter1929702966
2.
C19orf12Neurodegeneration with brain iron accumulation 4Pathogenic/Likely pathogenic
(Jan 27, 2014)
classified by single submitter1929702957 - 29702967
3.
C19orf12Neurodegeneration with brain iron accumulation 4Pathogenic/Likely pathogenic
(Nov 20, 2013)
classified by single submitter1929702972 - 29702974
4.
C19orf12Neurodegeneration with brain iron accumulation 4, SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (1 family)GO-ESP:0.00025(G)Pathogenic/Likely pathogenic
(Jan 27, 2014)
classified by multiple submitters1929708260
5.
C19orf12Neurodegeneration with brain iron accumulation 4Pathogenic/Likely pathogenic
(Jul 5, 2012)
classified by single submitter1929702776
6.
C19orf12Neurodegeneration with brain iron accumulation 4GO-ESP:0.00123(C)Pathogenic/Likely pathogenic
(Jul 5, 2012)
classified by single submitter1929702747
7.
C19orf12Neurodegeneration with brain iron accumulation 4Pathogenic/Likely pathogenic
(Jul 5, 2012)
classified by single submitter
8.
C19orf12Neurodegeneration with brain iron accumulation 4Pathogenic/Likely pathogenic
(Jan 27, 2014)
classified by multiple submitters1929708415
9.
C19orf12Neurodegeneration with brain iron accumulation 4Pathogenic/Likely pathogenic
(Jun 12, 2013)
classified by single submitter

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