GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
TNNI3 RR21HCinsufficiently evaluated not reviewed, f=0.008unknown var-GS12004-1100-36-ASM
TNNI3 P82Suncertain benigndominant

Initially reported in a patient with elderly-onset hypertrophic cardiomyopathy, later reports find an allelic frequency of 0.03 in Afro-Caribbean controls. This contradicts a highly penetrant effect.

(9 web hits)

TNNI3 L144Qinsufficiently evaluated pathogenicunknown

(6 web hits)

TNNI3 R145Ginsufficiently evaluated pathogenicunknown

(49 web hits)

TNNI3 R145Winsufficiently evaluated pathogenicunknown

(8 web hits)

TNNI3 A171Tinsufficiently evaluated pathogenicunknown

(5 web hits)

TNNI3 K178Einsufficiently evaluated pathogenicunknown

(8 web hits)

TNNI3 D190Ginsufficiently evaluated pathogenicunknown

(5 web hits)

TNNI3 R192Hinsufficiently evaluated pathogenicunknown

(11 web hits)

TNNI3 D196Ninsufficiently evaluated pathogenicunknown

(9 web hits)

TNNI3 K206Qinsufficiently evaluated pathogenicunknown

(20 web hits)

TNNI3K Q36Rinsufficiently evaluated noneunknown
TNNI3K Q137Rinsufficiently evaluated noneunknown
TNNI3K L171Vinsufficiently evaluated pathogenicdominant

This variant is associated with restrictive cardiomyopathy in one individual of Caucasian ethnicity.

TNNI3K H207Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
TNNI3K A209Vinsufficiently evaluated not reviewed, f=0.004unknown var-GS19025-1100-36-ASM
TNNI3K L272Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538
TNNI3K L272Vinsufficiently evaluated not reviewedunknown
TNNI3K I292Vinsufficiently evaluated noneunknown
TNNI3K H310Rinsufficiently evaluated not reviewedunknown
TNNI3K F342Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
TNNI3K I393Vinsufficiently evaluated none, f=0.002unknown CGI sample GS00253-DNA_B02_200_37
TNNI3K H411Rinsufficiently evaluated not reviewedunknown
TNNI3K T637Minsufficiently evaluated noneunknown

(8 web hits)

TNNI3K T738Minsufficiently evaluated noneunknown

(8 web hits)

TNNI3K I787Tinsufficiently evaluated not reviewed, f=0.004unknown var-GS18942-1100-36-ASM
TNNI3K D833Yinsufficiently evaluated noneunknown
TNNI3K A886Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS10851-1100-36-ASM
TNNI3K D934Yinsufficiently evaluated none, f=0.000unknown var-GS19239-1100-36-ASM
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Total results: 29

Gene search

"GENE" or "GENE A123C":

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