GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HBD V1Ainsufficiently evaluated pathogenicunknown

(515 web hits)

HBD H2Rinsufficiently evaluated pathogenicunknown

(867 web hits)

HBD N12Kinsufficiently evaluated pathogenicunknown

(4 web hits)

HBD G16Rinsufficiently evaluated pathogenicunknown

(6 web hits)

HBD V20Einsufficiently evaluated pathogenicunknown

(3 web hits)

HBD A22Einsufficiently evaluated pathogenicunknown

(21 web hits)

HBD G24Dinsufficiently evaluated pathogenicunknown

(29 web hits)

HBD G25Dinsufficiently evaluated pathogenicunknown

(3 web hits)

HBD E26Dinsufficiently evaluated pathogenicunknown

(8 web hits)

HBD A27Sinsufficiently evaluated pathogenicunknown

(17 web hits)

HBD A28Suncertain pathogenicrecessive

Causes delta thalasemia in a recessive manner. Individuals cannot produce hemoglobin A2, but this doesn’t generally have health consequences (A2 accounts for only 2-3% of hemoglobin in adults). De Angioletti et al 2002 (PMID: 12402333) reported this variant, A2-Yialousa, found in 42 of 63 affected families.

HBD R30Tinsufficiently evaluated pathogenicunknown

(9 web hits)

HBD P37Hinsufficiently evaluated pathogenicunknown

(9 web hits)

HBD W37Xinsufficiently evaluated pathogenicunknown

(6 web hits)

HBD E43Ginsufficiently evaluated pathogenicunknown

(3 web hits)

HBD E43Kinsufficiently evaluated pathogenicunknown

(42 web hits)

HBD D47Vinsufficiently evaluated pathogenicunknown
HBD P51Rinsufficiently evaluated pathogenicunknown
HBD N58Kinsufficiently evaluated pathogenicunknown

(10 web hits)

HBD G69Rinsufficiently evaluated pathogenicunknown

(10 web hits)

HBD L75Vinsufficiently evaluated pathogenicunknown

(3 web hits)

HBD L89Vinsufficiently evaluated pathogenicunknown

(4 web hits)

HBD E90Vinsufficiently evaluated pathogenicunknown

(4 web hits)

HBD C93Ginsufficiently evaluated pathogenicunknown

(17 web hits)

HBD V98Minsufficiently evaluated pathogenicunknown
HBD D99Ninsufficiently evaluated pathogenicunknown

(7 web hits)

HBD R105Sinsufficiently evaluated pathogenicunknown

(2 web hits)

HBD R116Cinsufficiently evaluated pathogenicunknown

(5 web hits)

HBD R116Hinsufficiently evaluated pathogenicunknown

(8 web hits)

HBD E121Vinsufficiently evaluated pathogenicunknown
HBD Q125Einsufficiently evaluated pathogenicunknown
HBD V133Ainsufficiently evaluated pathogenicunknown
HBD G136Dinsufficiently evaluated pathogenicunknown
HBD L141Pinsufficiently evaluated pathogenicunknown
HBD A142Dinsufficiently evaluated pathogenicunknown
HBD H146Rinsufficiently evaluated pathogenicunknown
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Total results: 36

Gene search

"GENE" or "GENE A123C":

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