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Items: 2

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr19:47856753
GRCh38:
Chr19:47353496
DHX34Q156*Pulmonary emphysema, Neurodevelopmental delay, Intellectual disability,
Polycystic kidney disease, Postaxial polydactyly, Reduced renal corticomedullary differentiation,
Neurodevelopmental disorders
Likely pathogenic
(May 30, 2019)
no assertion criteria providedVCV000691941
2.
GRCh37:
Chr5:121411217
GRCh38:
Chr5:122075522
LOX, SRFBP1V254I, V24IPulmonary emphysema, Increased number of skin folds, Interphalangeal joint contracture of finger,
Abnormal facial shape, Pleural effusion
Uncertain significance
(Jan 1, 2018)
criteria provided, single submitterVCV000599283
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