GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
NIPBL M1Kinsufficiently evaluated pathogenicunknown

(15 web hits)

NIPBL S261Ainsufficiently evaluated not reviewed, f=0.018unknown var-GS19700-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
NIPBL S318Puncertain benign, f=0.008unknown

Rare, tentatively evaluated as benign. Predicted to be damaging by Polyphen 2 and other recessive variants in this gene cause Cornelia de Lange syndrome, but these are mostly more severe nonsense or frameshift mutations, or not nearby in the protein sequence.

NIPBL E340Ginsufficiently evaluated not reviewedunknown
NIPBL N674Sinsufficiently evaluated none, f=0.116unknown

(11 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu34D5B9 exome
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_H01_200_37 (hom)
NIPBL P1186Rinsufficiently evaluated not reviewedunknown
NIPBL A1246Ginsufficiently evaluated pathogenicunknown

(11 web hits)

NIPBL R1536Xinsufficiently evaluated pathogenicunknown

(11 web hits)

NIPBL R1723Xinsufficiently evaluated pathogenicunknown

(11 web hits)

NIPBL Q1844Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
NIPBL Y2430Cinsufficiently evaluated pathogenicunknown

(1 web hit)

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Total results: 11

Gene search

"GENE" or "GENE A123C":

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