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Items: 4

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:172660110
GRCh38:
Chr5:173233107
NKX2-5not specifiedUncertain significance
(Dec 28, 2012)
criteria provided, single submitter
2.
GRCh37:
Chr5:172660145-172660147
GRCh38:
Chr5:173233142-173233144
NKX2-5Atrial septal defect 7 with or without atrioventricular conduction defectsLikely pathogenic
(Mar 6, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr5:172662014
GRCh38:
Chr5:173235011
NKX2-5Hypothyroidism, congenital, nongoitrous, 5, Tetralogy of Fallot, Congenital heart disease,
not specified, Hypoplastic left heart syndrome 2, Interrupted aortic arch,
Truncus arteriosus, not provided, Malformation of the heart and great vessels
GO-ESP:0.00955(A)
GMAF:0.01020(A)
Conflicting interpretations of pathogenicity
(Dec 5, 2014)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr5:172662024
GRCh38:
Chr5:173235021
NKX2-5not specifiedGO-ESP:0.40419(C)
GMAF:0.46430(T)
Benign
(Apr 17, 2014)
criteria provided, multiple submitters, no conflicts
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