GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
MATN3 S47Ninsufficiently evaluated not reviewed, f=0.011unknown var-GS18537-1100-36-ASM
MATN3 R70Hinsufficiently evaluated pathogenicunknown
MATN3 R121Winsufficiently evaluated pathogenicunknown

(5 web hits)

MATN3 N126Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS20509-1100-36-ASM
MATN3 A128Pinsufficiently evaluated pathogenicunknown

(4 web hits)

MATN3 V194Dinsufficiently evaluated pathogenicunknown

(15 web hits)

MATN3 A219Dinsufficiently evaluated pathogenicunknown

(3 web hits)

MATN3 V220Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18956-1100-36-ASM
MATN3 A228Vinsufficiently evaluated none, f=0.002unknown
MATN3 E252Kinsufficiently evaluated not reviewed, f=0.021unknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01669-DNA_H05 from PGP sample 10971581
MATN3 T303Mlikely pathogenic, f=0.011unknown

An Iceland study implicated this in causing increased osteoarthritis — in particular, hand osteoarthritis. Because the variant is rare, the statistical significance of observations is weak. The authors estimate that individuals heterozygous for this variant have a 2.1-fold risk for hand osteoarthritis.

(21 web hits)

CGI sample GS00253-DNA_E01_200_37
MATN3 C304Sinsufficiently evaluated pathogenicunknown

(1 web hit)

MATN3 R391Cinsufficiently evaluated not reviewed, f=0.001unknown var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
MATN3 D471Ainsufficiently evaluated not reviewed, f=0.000unknown var-GS19703-1100-36-ASM
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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