GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FAM126A L53Pinsufficiently evaluated pathogenicunknown

(2 web hits)

FAM126A Q154Rpathogenic, f=0.000recessive

Unreported, rare and predicted to be damaging by Polyphen 2. Other recessive variants in this gene, including one missense mutation, have been reported to cause hypomyelinating leukodystrophy and congenital cataracts.

CGI sample GS00253-DNA_B02_200_37
FAM126A I210Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS21767-1100-36-ASM
FAM126A R217Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
FAM126A T498Ainsufficiently evaluated not reviewed, f=0.006unknown var-GS19025-1100-36-ASM
var-GS19026-1100-36-ASM
Total results: 5

Gene search

"GENE" or "GENE A123C":

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