GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC25A3 G72Einsufficiently evaluated pathogenicunknown

(3 web hits)

SLC25A3 L179Rinsufficiently evaluated noneunknown
SLC25A3 L180Rinsufficiently evaluated noneunknown
SLC25A3 K356Qinsufficiently evaluated noneunknown
SLC25A3 K357Qinsufficiently evaluated none, f=0.000unknown var-GS18517-1100-36-ASM
SLC25A30 I123Minsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
SLC25A30 V223Iinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_E01_200_37
SLC25A30 F280Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
SLC25A31 K9Rinsufficiently evaluated none, f=0.028unknown var-GS19025-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18505-1100-36-ASM
SLC25A31 S192Winsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_A02_200_37
SLC25A32 G77Rinsufficiently evaluated not reviewedunknown
SLC25A32 R117Hinsufficiently evaluated not reviewed, f=0.060unknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19700-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SLC25A33 L242Iinsufficiently evaluated none, f=0.027unknown var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18517-1100-36-ASM
SLC25A34 G13Pinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
SLC25A34 S15Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034
SLC25A34 C17Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
SLC25A34 R176Qinsufficiently evaluated not reviewed, f=0.002unknown var-GS19701-1100-36-ASM
SLC25A34 I215Minsufficiently evaluated none, f=0.019unknown var-GS19025-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
SLC25A34 H301Pinsufficiently evaluated not reviewedunknown
SLC25A35 S121Iinsufficiently evaluated not reviewedunknown
SLC25A35 R167Hinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
SLC25A35 T263Ninsufficiently evaluated not reviewedunknown var-GS19025-1100-36-ASM
SLC25A36 H66Ninsufficiently evaluated noneunknown
SLC25A36 T238Ainsufficiently evaluated not reviewedunknown
SLC25A37 I87Vinsufficiently evaluated none, f=0.209unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000005532
hu232307 build 36 substitution variants
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS06985-1100-36-ASM
SLC25A37 R96Qinsufficiently evaluated none, f=0.112unknown hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
SLC25A37 A248Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
SLC25A38 R117Xinsufficiently evaluated pathogenic, f=0.000unknown
SLC25A38 M128Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
SLC25A38 R187Pinsufficiently evaluated pathogenicunknown
SLC25A38 K264Xinsufficiently evaluated pathogenicunknown
SLC25A39 R217Xinsufficiently evaluated not reviewed, f=0.008unknown var-GS06994-1100-36-ASM
SLC25A39 F239Linsufficiently evaluated none, f=0.578unknown var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
SLC25A39 F247Linsufficiently evaluated none, f=0.507unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
hu728FFF build 36 substitution variants (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SLC25A39 K309Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
SLC25A39 M329Tinsufficiently evaluated not reviewedunknown
SLC25A39 M337Tinsufficiently evaluated not reviewedunknown
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Total results: 37

Gene search

"GENE" or "GENE A123C":

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