GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ABCD1 N148Sinsufficiently evaluated pathogenicunknown

(1 web hit)

ABCD1 Y174Dinsufficiently evaluated pathogenicunknown
ABCD1 G266Rinsufficiently evaluated pathogenicunknown

(10 web hits)

ABCD1 E291Kinsufficiently evaluated pathogenicunknown

(12 web hits)

ABCD1 D361Einsufficiently evaluated not reviewed, f=0.011unknown var-GS19669-1100-36-ASM
ABCD1 R389Ginsufficiently evaluated pathogenicunknown

(2 web hits)

ABCD1 R401Qinsufficiently evaluated pathogenicunknown

(15 web hits)

ABCD1 R418Winsufficiently evaluated pathogenicunknown

(4 web hits)

ABCD1 R464Xinsufficiently evaluated pathogenicunknown

(2 web hits)

ABCD1 E477Xinsufficiently evaluated pathogenicunknown
ABCD1 P484Rinsufficiently evaluated pathogenicunknown

(9 web hits)

ABCD1 S515Finsufficiently evaluated pathogenicunknown

(2 web hits)

ABCD1 R518Winsufficiently evaluated pathogenicunknown

(2 web hits)

ABCD1 V582Iinsufficiently evaluated none, f=0.000unknown
ABCD1 V583Einsufficiently evaluated none, f=0.001unknown
ABCD1 S606Linsufficiently evaluated pathogenicunknown

(32 web hits)

ABCD1 G608Dinsufficiently evaluated pathogenic, f=0.003recessive

This variant was seen in one European boy with adrenoleukodystrophy and was not seen in 100 control chromosomes.

(1 web hit)

ABCD1 R617Cinsufficiently evaluated pathogenicunknown

(17 web hits)

ABCD1 R617Hinsufficiently evaluated pathogenicunknown

(27 web hits)

Page: 1 2
Total results: 19

Gene search

"GENE" or "GENE A123C":

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