GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ITPR1 R330Qinsufficiently evaluated not reviewedunknown
ITPR1 R345Qinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_H01_200_37
ITPR1 V494Iinsufficiently evaluated not reviewed, f=0.006unknown CGI sample GS000005532
ITPR1 M754Vinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
ITPR1 M769Vinsufficiently evaluated none, f=0.010unknown

(1 web hit)

CGI sample GS00253-DNA_G01_200_37
hu728FFF build 36 substitution variants
ITPR1 N984Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
ITPR1 P1059Linsufficiently evaluated pathogenicunknown

(1 web hit)

ITPR1 K1210Rinsufficiently evaluated noneunknown
ITPR1 K1225Rinsufficiently evaluated noneunknown
ITPR1 I1406Vinsufficiently evaluated noneunknown
ITPR1 H1412Qinsufficiently evaluated not reviewed, f=0.005unknown var-GS19129-1100-36-ASM
ITPR1 I1421Vinsufficiently evaluated none, f=0.000unknown var-GS18537-1100-36-ASM
ITPR1 T1797Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
ITPR1 T1850Pinsufficiently evaluated noneunknown
ITPR1 T1865Pinsufficiently evaluated noneunknown
ITPR1 R2381Cinsufficiently evaluated noneunknown
ITPR1 R2396Cinsufficiently evaluated noneunknown
Page: 1 2
Total results: 17

Gene search

"GENE" or "GENE A123C":

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