GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GDF6 G42Vinsufficiently evaluated pathogenic, f=0.001unknown
GDF6 D57Hpathogenicrecessive

Reported to cause Leber congenital amaurosis in a recessive manner, causing congenital vision loss. This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000054426/) and comes from Asai-Coakwell 2013 (PMID: 23307924), who report seeing this variant compound heterozygous with another pathogenic variant in a single case out of 279 studied. According to ExAC data, about 1 in 6000 with European ancestry carry this variant.

GDF6 K242Rinsufficiently evaluated pathogenicunknown
GDF6 A249Einsufficiently evaluated pathogenic, f=0.003unknown

(7 web hits)

GDF6 Q253Linsufficiently evaluated pathogenicunknown
GDF6 L289Pinsufficiently evaluated pathogenic, f=0.001unknown

(7 web hits)

GDF6 P327Hinsufficiently evaluated pathogenicunknown
Total results: 7

Gene search

"GENE" or "GENE A123C":

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