GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
FGD1 A37Vinsufficiently evaluated none, f=0.001unknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
FGD1 L177Pinsufficiently evaluated not reviewed, f=0.028unknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
FGD1 P312Lpathogenic, f=0.000recessive

Extremely rare variant, reported to cause X-linked mental retardation. Only one case observed — not enough information to establish statistical significance (it is also possible this was an unusual coincidental finding). Other mutations in this gene cause Aarskog-Scott syndrome, however the family reported did not have features of this syndrome.

(63 web hits)

FGD1 R408Qinsufficiently evaluated pathogenicunknown

(78 web hits)

FGD1 R433Linsufficiently evaluated pathogenicunknown

(1 web hit)

FGD1 M466Vinsufficiently evaluated pathogenicunknown

(7 web hits)

FGD1 R522Hinsufficiently evaluated pathogenicunknown

(2 web hits)

FGD1 R610Qinsufficiently evaluated pathogenicunknown

(3 web hits)

Total results: 8

Gene search

"GENE" or "GENE A123C":

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