GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
RDH12 T49Minsufficiently evaluated pathogenicunknown

(42 web hits)

RDH12 I51Ninsufficiently evaluated pathogenicunknown

(12 web hits)

RDH12 R62Xpathogenicrecessive

Reported to cause Leber congenital amaurosis in a recessive manner, causing night blindness and vision loss. This effect is reported in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000002131/). Studying 110 unrelated patients, Perrault et al 2004 (PMID: 15322982) report seeing this variant once.

(26 web hits)

RDH12 L99Iinsufficiently evaluated pathogenic, f=0.000unknown

(23 web hits)

RDH12 G127Xinsufficiently evaluated pathogenicunknown

(14 web hits)

RDH12 H151Dinsufficiently evaluated pathogenicunknown

(15 web hits)

RDH12 H151Ninsufficiently evaluated pathogenicunknown

(1 web hit)

RDH12 T155Iinsufficiently evaluated pathogenicunknown

(23 web hits)

RDH12 R161Qinsufficiently evaluated none, f=0.119unknown

(17 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS12004-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
RDH12 S175Pinsufficiently evaluated pathogenicunknown

(6 web hits)

RDH12 Q189Xinsufficiently evaluated pathogenicunknown

(32 web hits)

RDH12 Y226Cinsufficiently evaluated pathogenicunknown

(34 web hits)

RDH12 P230Ainsufficiently evaluated pathogenicunknown

(3 web hits)

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Total results: 13

Gene search

"GENE" or "GENE A123C":

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