GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
RAPSN L14Pinsufficiently evaluated pathogenicunknown

(34 web hits)

RAPSN V45Minsufficiently evaluated pathogenicunknown

(1 web hit)

RAPSN R58Cuncertain benign, f=0.078unknown

Reported as non-pathogenic polymorphism.

(3 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
hu232307 build 36 substitution variants
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
RAPSN F81Linsufficiently evaluated none, f=0.019unknown

(1 web hit)

CGI sample GS01175-DNA_D05 from PGP sample 1205491
RAPSN N88Kpathogenic, f=0.001recessive

Causes congenital myasthenic syndrome in a recessive manner (when homozygous or combined with another deleterious variant in the same gene).

(195 web hits)

RAPSN V138Iinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS000005532
RAPSN F139Sinsufficiently evaluated pathogenicunknown

(4 web hits)

RAPSN E162Kinsufficiently evaluated pathogenicunknown

(1 web hit)

RAPSN R164Cinsufficiently evaluated pathogenicunknown

(18 web hits)

RAPSN A189Vinsufficiently evaluated pathogenicunknown

(4 web hits)

RAPSN R205Qinsufficiently evaluated none, f=0.011unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
RAPSN Y269Xinsufficiently evaluated pathogenicunknown

(16 web hits)

RAPSN S274Ninsufficiently evaluated not reviewed, f=0.001unknown hu232307 build 36 substitution variants
RAPSN I275Tinsufficiently evaluated not reviewedunknown
RAPSN L283Pinsufficiently evaluated pathogenicunknown

(15 web hits)

RAPSN L377Winsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_H01_200_37
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Total results: 16

Gene search

"GENE" or "GENE A123C":

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