GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BMP15 S5Rinsufficiently evaluated not reviewed, f=0.011unknown var-GS19700-1100-36-ASM (hom)
BMP15 R68Winsufficiently evaluated pathogenicunknown
BMP15 R76Cinsufficiently evaluated pathogenicunknown
BMP15 L148Pinsufficiently evaluated not reviewed, f=0.011unknown var-GS19238-1100-36-ASM
BMP15 A180Tuncertain benign, f=0.011unknown

Probably benign. Initially reported to be associated with premature ovarian failure, but later findings in controls weakened this hypothesis (no longer statistically significant) and functional studies failed to find any deleterious effect for this variant.

(85 web hits)

BMP15 E211Xinsufficiently evaluated pathogenicunknown
BMP15 Y235Cinsufficiently evaluated pathogenicunknown
BMP15 L263LLinsufficiently evaluated not reviewedunknown var-GS19669-1100-36-ASM
BMP15 N289Sinsufficiently evaluated not reviewedunknown
Total results: 9

Gene search

"GENE" or "GENE A123C":

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