GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NKX2-5 E21Quncertain benign, f=0.000undefined

Probably nonpathogenic. Reported in a single case of tetralogy of fallot (a congenital heart defect), although an unaffected mother and grandmother were also carriers. A later study also found the variant in an affected family, but the variant did not segregate with disease (other affected family members were not carriers) — they conclude that it is probably a nonpathogenic polymorphism.

(12 web hits)

CGI sample GS000005532
NKX2-5 A42Pinsufficiently evaluated not reviewed, f=0.001unknown

(2 web hits)

NKX2-5 L116Rinsufficiently evaluated not reviewedunknown
NKX2-5 A119Sinsufficiently evaluated pathogenic, f=0.000unknown

(14 web hits)

NKX2-5 R161Pinsufficiently evaluated pathogenicunknown

(16 web hits)

NKX2-5 K183Einsufficiently evaluated pathogenicunknown

(10 web hits)

NKX2-5 R190Cinsufficiently evaluated pathogenicunknown

(8 web hits)

NKX2-5 R216Cinsufficiently evaluated pathogenicunknown

(3 web hits)

NKX2-5 A219Vinsufficiently evaluated pathogenicunknown

(5 web hits)

NKX2-5 Y256Xinsufficiently evaluated pathogenicunknown

(1 web hit)

NKX2-5 D299Ginsufficiently evaluated pathogenicunknown

(2 web hits)

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Total results: 11

Gene search

"GENE" or "GENE A123C":

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