GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CBS R91Kinsufficiently evaluated noneunknown

(7 web hits)

CBS F99Yinsufficiently evaluated not reviewed, f=0.001unknown

(9 web hits)

CBS A114Vinsufficiently evaluated pathogenic, f=0.000unknown

(96 web hits)

CBS G139Rinsufficiently evaluated pathogenic, f=0.000unknown

(14 web hits)

CBS E144Kinsufficiently evaluated pathogenicunknown

(31 web hits)

CBS P145Linsufficiently evaluated pathogenicunknown

(22 web hits)

CBS V168Minsufficiently evaluated pathogenicunknown

(20 web hits)

CBS T191Minsufficiently evaluated pathogenicunknown

(139 web hits)

CBS T260Pinsufficiently evaluated not reviewedunknown CGI sample GS000006909
CBS R266Kinsufficiently evaluated pathogenicunknown

(40 web hits)

CBS I278Tpathogenic, f=0.003recessive

This recessive mutation causes homocystinuria in a recessive manner and is found in patients responsive to pyridoxine treatment.

(485 web hits)

var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19701-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CBS PE282HPinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
CBS G307Sinsufficiently evaluated pathogenic, f=0.000recessive

Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

(225 web hits)

CBS T353Minsufficiently evaluated pathogenic, f=0.000unknown

(26 web hits)

CBS R369Cinsufficiently evaluated not reviewed, f=0.002unknown CGI sample GS000005532
CBS K384Einsufficiently evaluated pathogenicunknown

(51 web hits)

CBS P422Linsufficiently evaluated pathogenicunknown

(19 web hits)

CBS V425Minsufficiently evaluated not reviewed, f=0.001unknown var-GS19026-1100-36-ASM
CBS D444Ninsufficiently evaluated pathogenic, f=0.000unknown

(95 web hits)

CBS T460Mpathogenic, f=0.008recessive

Unpublished data suggests this variant causes homocystinuria in a recessive manner, and Polyphen 2 predicts a damaging effect. Without more data we are unable to determine if the unpublished report had any statistical significance supporting it.

CGI sample GS00253-DNA_E01_200_37
CBS S466Linsufficiently evaluated pathogenicunknown

(80 web hits)

CBS L539Sinsufficiently evaluated pathogenicunknown

(52 web hits)

CBS A545Tinsufficiently evaluated not reviewedunknown
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Total results: 23

Gene search

"GENE" or "GENE A123C":

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