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Links from MedGen

Items: 7

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:131860304
GRCh38:
Chr9:129098025
CRATNeurodegeneration with brain iron accumulation 8, not providedBenign/Likely benign
(Oct 10, 2022)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr9:131857760
GRCh38:
Chr9:129095481
CRATNeurodegeneration with brain iron accumulation 8, not providedBenign/Likely benign
(Oct 10, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr9:131862781
GRCh38:
Chr9:129100502
CRATNeurodegeneration with brain iron accumulation 8, not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr9:131860901
GRCh38:
Chr9:129098622
CRATL332M, L351M, L372M, L373MNeurodegeneration with brain iron accumulation 8, not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr9:131862957
GRCh38:
Chr9:129100678
CRATR233W, R252W, R273W, R274Wnot provided, Neurodegeneration with brain iron accumulation 8Uncertain significance
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr9:131862944
GRCh38:
Chr9:129100665
CRATR256H, R278H, R237H, R277Hnot providedUncertain significance
(Oct 7, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr9:131862812
GRCh38:
Chr9:129100533
CRATR321H, R281H, R300H, R322Hnot provided, Neurodegeneration with brain iron accumulation 8, Neurodegeneration with brain iron accumulation
Conflicting interpretations of pathogenicity
(Jul 17, 2022)
criteria provided, conflicting interpretations
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