GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DYSF V67Dinsufficiently evaluated pathogenicunknown

(2 web hits)

DYSF G128Einsufficiently evaluated not reviewed, f=0.008unknown
DYSF G129Einsufficiently evaluated not reviewed, f=0.003unknown CGI sample GS00253-DNA_F01_200_37
DYSF D147Ginsufficiently evaluated not reviewedunknown
DYSF D148Ginsufficiently evaluated not reviewedunknown
DYSF A170Einsufficiently evaluated not reviewed, f=0.016unknown var-GS12004-1100-36-ASM
var-GS20502-1100-36-ASM
DYSF L189Vinsufficiently evaluated none, f=0.008unknown

(2 web hits)

hu3215A7 build 36 substitution variants
var-GS18517-1100-36-ASM
DYSF L190Vinsufficiently evaluated noneunknown
DYSF L220Vinsufficiently evaluated noneunknown
DYSF L221Vinsufficiently evaluated none, f=0.024unknown
DYSF G299Rinsufficiently evaluated pathogenicunknown

(6 web hits)

DYSF G299Winsufficiently evaluated pathogenicunknown

(2 web hits)

DYSF A350Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
DYSF V406Linsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS000006909
DYSF E457Kinsufficiently evaluated pathogenic, f=0.008recessive

Putatively causes Miyoshi myopathy in a recessive manner. Unknown allele frequency, seen compound heterozygously in 1 of 40 patients.

hu232307 build 36 substitution variants
var-GS19669-1100-36-ASM
DYSF E489Kinsufficiently evaluated not reviewed, f=0.016unknown CGI sample GS000005532
DYSF G519Rinsufficiently evaluated pathogenicunknown

(8 web hits)

DYSF L556Pinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
DYSF Q605Xinsufficiently evaluated pathogenicunknown

(3 web hits)

DYSF A614Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
DYSF D625Yinsufficiently evaluated pathogenicunknown

(8 web hits)

DYSF S655Ginsufficiently evaluated not reviewedunknown
DYSF S656Ginsufficiently evaluated not reviewedunknown
DYSF S669Ginsufficiently evaluated not reviewedunknown
DYSF S670Ginsufficiently evaluated not reviewedunknown
DYSF L685Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
DYSF S686Ginsufficiently evaluated not reviewedunknown
DYSF S687Ginsufficiently evaluated not reviewedunknown
DYSF S700Ginsufficiently evaluated not reviewedunknown
DYSF S701Ginsufficiently evaluated not reviewedunknown
DYSF P791Rinsufficiently evaluated pathogenicunknown

(2 web hits)

DYSF R794Qinsufficiently evaluated noneunknown
DYSF R795Qinsufficiently evaluated noneunknown
DYSF R808Qinsufficiently evaluated noneunknown
DYSF R809Qinsufficiently evaluated noneunknown
DYSF I820Vinsufficiently evaluated noneunknown
DYSF I821Vinsufficiently evaluated noneunknown
DYSF R825Qinsufficiently evaluated noneunknown
DYSF R826Qinsufficiently evaluated none, f=0.001unknown
DYSF I834Vinsufficiently evaluated none, f=0.039unknown var-GS19017-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
DYSF I835Vinsufficiently evaluated noneunknown
DYSF R839Qinsufficiently evaluated noneunknown
DYSF R840Qinsufficiently evaluated noneunknown
DYSF I851Vinsufficiently evaluated noneunknown
DYSF I852Vinsufficiently evaluated none, f=0.044unknown
DYSF D863Ainsufficiently evaluated not reviewed, f=0.016unknown var-GS19701-1100-36-ASM
var-GS18505-1100-36-ASM
DYSF I865Vinsufficiently evaluated noneunknown
DYSF I866Vinsufficiently evaluated noneunknown
DYSF T955Iinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
DYSF M986Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
DYSF W999Cinsufficiently evaluated pathogenicunknown

(2 web hits)

DYSF R1022Qinsufficiently evaluated not reviewed, f=0.016unknown var-GS20502-1100-36-ASM
DYSF R1040Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D03 from PGP sample 27486199
DYSF R1046Hinsufficiently evaluated pathogenicunknown

(3 web hits)

DYSF E1065EAEinsufficiently evaluated not reviewed, f=0.031unknown
DYSF R1082Hinsufficiently evaluated noneunknown
DYSF E1083EAEinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
DYSF R1083Hinsufficiently evaluated noneunknown
DYSF R1095Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
DYSF R1096Hinsufficiently evaluated none, f=0.016unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
DYSF R1097Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
DYSF R1097Hinsufficiently evaluated noneunknown
DYSF R1113Hinsufficiently evaluated noneunknown
DYSF R1114Hinsufficiently evaluated none, f=0.007unknown
DYSF R1127Hinsufficiently evaluated noneunknown
DYSF R1128Hinsufficiently evaluated noneunknown

(1 web hit)

DYSF R1254Winsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
DYSF I1298Vinsufficiently evaluated pathogenic, f=0.008unknown

(4 web hits)

DYSF R1317Linsufficiently evaluated noneunknown
DYSF R1318Linsufficiently evaluated noneunknown
DYSF R1331Linsufficiently evaluated none, f=0.023unknown hu3215A7 build 36 substitution variants
var-GS20502-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
DYSF R1332Linsufficiently evaluated noneunknown
DYSF R1348Linsufficiently evaluated noneunknown
DYSF R1349Linsufficiently evaluated none, f=0.025unknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D03 from PGP sample 27486199
DYSF R1362Linsufficiently evaluated noneunknown
DYSF R1363Linsufficiently evaluated noneunknown
DYSF D1459Ginsufficiently evaluated not reviewed, f=0.016unknown var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
DYSF G1492Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
DYSF K1512Tinsufficiently evaluated noneunknown
DYSF K1513Tinsufficiently evaluated noneunknown
DYSF K1526Tinsufficiently evaluated none, f=0.016unknown var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
DYSF K1527Tinsufficiently evaluated noneunknown
DYSF K1533Tinsufficiently evaluated noneunknown
DYSF K1534Tinsufficiently evaluated noneunknown
DYSF K1543Tinsufficiently evaluated noneunknown
DYSF K1544Tinsufficiently evaluated noneunknown
DYSF K1547Tinsufficiently evaluated noneunknown
DYSF K1548Tinsufficiently evaluated noneunknown
DYSF K1557Tinsufficiently evaluated noneunknown
DYSF K1558Tinsufficiently evaluated noneunknown
DYSF K1564Tinsufficiently evaluated noneunknown
DYSF K1565Tinsufficiently evaluated none, f=0.001unknown
DYSF D1680Ginsufficiently evaluated noneunknown

(4 web hits)

DYSF D1681Ginsufficiently evaluated noneunknown

(1 web hit)

DYSF D1694Ginsufficiently evaluated noneunknown

(1 web hit)

DYSF D1695Ginsufficiently evaluated noneunknown

(1 web hit)

DYSF D1701Ginsufficiently evaluated noneunknown

(1 web hit)

DYSF D1702Ginsufficiently evaluated noneunknown

(1 web hit)

DYSF D1711Ginsufficiently evaluated noneunknown

(1 web hit)

DYSF D1712Ginsufficiently evaluated noneunknown

(1 web hit)

DYSF D1715Ginsufficiently evaluated noneunknown

(1 web hit)

DYSF D1716Ginsufficiently evaluated noneunknown

(1 web hit)

DYSF D1725Ginsufficiently evaluated noneunknown

(1 web hit)

DYSF D1726Ginsufficiently evaluated noneunknown

(1 web hit)

DYSF D1732Ginsufficiently evaluated noneunknown

(1 web hit)

DYSF D1733Ginsufficiently evaluated noneunknown

(1 web hit)

DYSF E1734Ginsufficiently evaluated pathogenicunknown

(7 web hits)

DYSF R1796Winsufficiently evaluated not reviewed, f=0.008unknown var-GS19701-1100-36-ASM
DYSF R1905Xinsufficiently evaluated pathogenicunknown

(18 web hits)

DYSF D1915Ninsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
DYSF R2042Cinsufficiently evaluated pathogenicunknown

(3 web hits)

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Total results: 111

Gene search

"GENE" or "GENE A123C":

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