View unique variants in gene ACADM

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the transcript reference sequence.

161 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. 1 - - c.-403C>T p.(=) - - - - 1 Unknown - g.76190070C>T - - - ACADM_000160 MSCV_0015338 - - ; clinvar; - - - -
./. 1 - - c.-401G>A p.(=) - - - - 1 Unknown - g.76190072G>A - - - ACADM_000161 MSCV_0015339 - - ; clinvar; - - - -
./. 1 - - c.-375C>T p.(=) - - - - 1 Unknown - g.76190098C>T - - - ACADM_000148 MSCV_0015340 - - ; clinvar; - - - -
./. 1 - - c.-362T>C p.(=) - - - - 1 Unknown - g.76190111T>C - - - ACADM_000149 MSCV_0015341 - - ; clinvar; - - - -
./. 1 - - c.-342G>T p.(=) - - - - 1 Unknown - g.76190131G>T - - - ACADM_000150 MSCV_0015342 - - ; clinvar; - - - -
./. 1 - - c.-304A>G p.(=) - - - - 1 Unknown - g.76190169A>G - - - ACADM_000151 MSCV_0015343 - - ; clinvar; - - - -
./. 1 - - c.-257G>A p.(=) - - - - 1 Unknown - g.76190216G>A - - - ACADM_000152 MSCV_0015344 - - ; clinvar; - - - -
./. 1 - - c.-169C>T p.(=) - - - - 1 Unknown - g.76190304C>T - - - ACADM_000153 MSCV_0015345 - - ; clinvar; - - - -
./. 1 - - c.-142C>G p.(=) - - - - 1 Unknown - g.76190331C>G - - - ACADM_000154 MSCV_0015346 - - ; clinvar; - - - -
./. 1 - - c.-92A>G p.(=) - - - - 1 Unknown - g.76190381A>G - - - ACADM_000155 MSCV_0015347 - - ; clinvar; - - - -
./. 1 - - c.-50A>T p.(=) - - - - 1 Unknown - g.76190423A>T - - - ACADM_000156 MSCV_0015348 - - ; clinvar; - - - -
./. 1 - - c.-34T>C p.(=) - - - - 1 Unknown - g.76190439T>C - - - ACADM_000157 MSCV_0015349 - - ; clinvar; - - - -
./. 1 - - c.-29T>C p.(=) - - - - 1 Unknown - g.76190444T>C - - - ACADM_000158 MSCV_0015350 - - ; clinvar; - - - -
./. 1 - - c.-17C>G p.(=) - - - - 1 Unknown - g.76190456C>G - - - ACADM_000159 MSCV_0015351 - - ; clinvar; - - - -
./. 1 - - c.-6_6delinsACCCCGAAGG p.? - - - - 1 Unknown - g.76190467_76190478delinsACCCCGAAGG - - - ACADM_000128 MSCV_0015352 - - ; clinvar; - - - -
./. 1 - - c.1A>G p.? - - - - 1 Unknown - g.76190473A>G - - - ACADM_000129 MSCV_0015353 - - ; clinvar; - - - -
./. 1 - - c.31-61T>C p.(=) - - - - 1 Unknown - g.76194013T>C - - - ACADM_000130 MSCV_0015354 - - ; clinvar; - - - -
./. 1 - - c.31-25C>T p.(=) - - - - 1 Unknown - g.76194049C>T - - - ACADM_000131 MSCV_0015355 - - ; clinvar; - - - -
./. 1 - - c.59del p.(Ser20Phefs*20) - - - - 1 Unknown - g.76194102del - - - ACADM_000132 MSCV_0015356 - - ; clinvar; - - - -
./. 1 - - c.62G>A p.(Arg21His) - - - - 1 Unknown - g.76194105G>A - - - ACADM_000133 MSCV_0015357 - - ; clinvar; - - - -
./. 1 - - c.69T>C p.(=) - - - - 1 Unknown - g.76194112T>C - - - ACADM_000134 MSCV_0015358 - - ; clinvar; - - - -
./. 1 - - c.114_115insTTAGGAT p.(Ser42Argfs*3) - - - - 1 Unknown - g.76194157_76194158insTTAGGAT - - - ACADM_000135 MSCV_0015359 - - ; clinvar; - - - -
./. 1 - - c.130+1G>T p.? - - - - 1 Unknown - g.76194174G>T - - - ACADM_000136 MSCV_0015360 - - ; clinvar; - - - -
./. 1 - - c.130+18T>A p.(=) - - - - 1 Unknown - g.76194191T>A - - - ACADM_000137 MSCV_0015361 - - ; clinvar; - - - -
./. 1 - - c.130+57del p.(=) - - - - 1 Unknown - g.76194230del - - - ACADM_000104 MSCV_0015362 - - ; clinvar; - - - -
./. 1 - - c.130+62del p.(=) - - - - 1 Unknown - g.76194235del - - - ACADM_000105 MSCV_0015363 - - ; clinvar; - - - -
./. 1 - - c.130+114A>G p.(=) - - - - 1 Unknown - g.76194287A>G - - - ACADM_000106 MSCV_0015364 - - ; clinvar; - - - -
./. 1 - - c.139G>A p.(Glu47Lys) - - - - 1 Unknown - g.76198337G>A - - - ACADM_000107 MSCV_0015365 - - ; clinvar; - - - -
./. 1 - - c.146A>G p.(Gln49Arg) - - - - 1 Unknown - g.76198344A>G - - - ACADM_000108 MSCV_0015366 - - ; clinvar; - - - -
./. 1 - - c.169C>T p.(Arg57Cys) - - - - 1 Unknown - g.76198367C>T - - - ACADM_000109 MSCV_0015367 - - ; clinvar; - - - -
./. 1 - - c.170G>A p.(Arg57His) - - - - 1 Unknown - g.76198368G>A - - - ACADM_000110 MSCV_0015368 - - ; clinvar; - - - -
./. 1 - - c.181_182del p.(Glu62Glyfs*10) - - - - 1 Unknown - g.76198379_76198380del - - - ACADM_000111 MSCV_0015369 - - ; clinvar; - - - -
+/+, ./. 2 - 3/12 c.211T>C p.(Tyr71His) benign(0.055) missense_variant - -, tolerated(0.31) 1 Unknown subst g.76198409T>C - 4.450 - ACADM_000012 MSCV_0000045 rs121434280 - ; clinvar; 18241067;11409868;11349232;15479234 - - -
./. 1 - - c.228+1G>T p.? - - - - 1 Unknown - g.76198427G>T - - - ACADM_000112 MSCV_0015371 - - ; clinvar; - - - -
./. 1 - - c.228+2T>G p.? - - - - 1 Unknown - g.76198428T>G - - - ACADM_000113 MSCV_0015372 - - ; clinvar; - - - -
./. 1 - - c.228+10T>C p.(=) - - - - 1 Unknown - g.76198436T>C - - - ACADM_000114 MSCV_0015373 - - ; clinvar; - - - -
./. 1 - - c.236del p.(Val79Alafs*3) - - - - 1 Unknown - g.76198545del - - - ACADM_000115 MSCV_0015374 - - ; clinvar; - - - -
./. 1 - - c.245T>C p.(Ile82Thr) - - - - 1 Unknown - g.76198554T>C - - - ACADM_000116 MSCV_0015375 - - ; clinvar; - - - -
./. 1 - - c.250A>G p.(Arg84Gly) - - - - 1 Unknown - g.76198559A>G - - - ACADM_000117 MSCV_0015376 - - ; clinvar; - - - -
./. 1 - - c.255_256insT p.(Trp86Leufs*23) - - - - 1 Unknown - g.76198564_76198565insT - - - ACADM_000118 MSCV_0015377 - - ; clinvar; - - - -
./. 1 - - c.262C>T p.(Leu88Phe) - - - - 1 Unknown - g.76198571C>T - - - ACADM_000119 MSCV_0015378 - - ; clinvar; - - - -
./. 1 - - c.265G>A p.(Gly89Ser) - - - - 1 Unknown - g.76198574G>A - - - ACADM_000121 MSCV_0015380 - - ; clinvar; - - - -
./. 1 - - c.265G>T p.(Gly89Cys) - - - - 1 Unknown - g.76198574G>T - - - ACADM_000120 MSCV_0015379 - - ; clinvar; - - - -
./. 1 - - c.275_276del p.(Ile95Serfs*13) - - - - 1 Unknown - g.76198584_76198585del - - - ACADM_000122 MSCV_0015381 - - ; clinvar; - - - -
./. 1 - - c.299-10G>C p.(=) - - - - 1 Unknown - g.76199203G>C - - - ACADM_000123 MSCV_0015382 - - ; clinvar; - - - -
./. 1 - - c.299-2A>G p.? - - - - 1 Unknown - g.76199211A>G - - - ACADM_000124 MSCV_0015383 - - ; clinvar; - - - -
./. 1 - - c.299-1G>C p.? - - - - 1 Unknown - g.76199212G>C - - - ACADM_000125 MSCV_0015384 - - ; clinvar; - - - -
./. 1 - - c.307G>A p.(Gly103Arg) - - - - 1 Unknown - g.76199221G>A - - - ACADM_000126 MSCV_0015385 - - ; clinvar; - - - -
./. 1 - - c.308G>T p.(Gly103Val) - - - - 1 Unknown - g.76199222G>T - - - ACADM_000127 MSCV_0015386 - - ; clinvar; - - - -
./. 1 - - c.314G>A p.(Gly105Glu) - - - - 1 Unknown - g.76199228G>A - - - ACADM_000138 MSCV_0015387 - - ; clinvar; - - - -
./. 1 - - c.331_334del p.(Ile112Valfs*41) - - - - 1 Unknown - g.76199245_76199248del - - - ACADM_000139 MSCV_0015388 - - ; clinvar; - - - -
./. 1 - - c.354_359del p.(Gly119_Cys120del) - - - - 1 Unknown - g.76199268_76199273del - - - ACADM_000140 MSCV_0015389 - - ; clinvar; - - - -
./. 1 - - c.358T>G p.(Cys120Gly) - - - - 1 Unknown - g.76199272T>G - - - ACADM_000141 MSCV_0015390 - - ; clinvar; - - - -
./. 1 - - c.359G>A p.(Cys120Tyr) - - - - 1 Unknown - g.76199273G>A - - - ACADM_000142 MSCV_0015391 - - ; clinvar; - - - -
./. 1 - - c.363A>C p.(=) - - - - 1 Unknown - g.76199277A>C - - - ACADM_000082 MSCV_0015393 - - ; clinvar; - - - -
./. 1 - - c.363_364delinsCA p.(Gly122Arg) - - - - 1 Unknown - g.76199277_76199278delinsCA - - - ACADM_000083 MSCV_0015392 - - ; clinvar; - - - -
+/+, ./. 2 - 5/12 c.374C>T p.(Thr125Ile) possibly_damaging(0.454) missense_variant - -, deleterious(0.03) 1 Unknown subst g.76199288C>T - 5.690 - ACADM_000001 MSCV_0000046 rs121434283 - ; clinvar; 11349232;17273963 - - -
./. 1 - - c.396del p.? - - - - 1 Unknown - g.76199310del - - - ACADM_000084 MSCV_0015395 - - ; clinvar; - - - -
./. 1 - - c.399+1G>A p.? - - - - 1 Unknown - g.76199314G>A - - - ACADM_000086 MSCV_0015397 - - ; clinvar; - - - -
./. 1 - - c.399+1G>T p.? - - - - 1 Unknown - g.76199314G>T - - - ACADM_000085 MSCV_0015396 - - ; clinvar; - - - -
./. 1 - - c.400-3T>G p.? - - - - 1 Unknown - g.76200473T>G - - - ACADM_000087 MSCV_0015398 - - ; clinvar; - - - -
./. 1 - - c.407C>G p.(Pro136Arg) - - - - 1 Unknown - g.76200483C>G - - - ACADM_000088 MSCV_0015399 - - ; clinvar; - - - -
./. 1 - - c.434del p.(Lys146Argfs*8) - - - - 1 Unknown - g.76200510del - - - ACADM_000089 MSCV_0015400 - - ; clinvar; - - - -
./. 1 - - c.436_438del p.(Lys148del) - - - - 1 Unknown - g.76200512_76200514del - - - ACADM_000090 MSCV_0015401 - - ; clinvar; - - - -
./. 1 - - c.438del p.(Lys147Argfs*7) - - - - 1 Unknown - g.76200514del - - - ACADM_000091 MSCV_0015402 - - ; clinvar; - - - -
./. 1 - - c.442_445del p.(Lys148Ilefs*5) - - - - 1 Unknown - g.76200518_76200521del - - - ACADM_000092 MSCV_0015403 - - ; clinvar; - - - -
./. 1 - - c.447del p.(Leu150Trpfs*4) - - - - 1 Unknown - g.76200523del - - - ACADM_000013 MSCV_0015404 - - ; clinvar; - - - -
./. 1 - - c.455G>A p.(Arg152Lys) - - - - 1 Unknown - g.76200531G>A - - - ACADM_000014 MSCV_0015405 - - ; clinvar; - - - -
./. 1 - - c.458_461del p.(Thr154Argfs*4) - - - - 1 Unknown - g.76200534_76200537del - - - ACADM_000015 MSCV_0015406 - - ; clinvar; - - - -
+/+, ./. 2 - 6/12 c.459G>A p.(Met153Ile) benign(0.013) missense_variant - -, deleterious(0.05) 1 Unknown subst g.76200535G>A - 5.630 - ACADM_000002 MSCV_0000047 rs121434277 - ; clinvar; 1684086 - - -
./. 1 - - c.459G>T p.(Met153Ile) - - - - 1 Unknown - g.76200535G>T - - - ACADM_000016 MSCV_0015407 - - ; clinvar; - - - -
./. 1 - - c.476T>C p.(Met159Thr) - - - - 1 Unknown - g.76200552T>C - - - ACADM_000017 MSCV_0015409 - - ; clinvar; - - - -
./. 1 - - c.480+62C>T p.(=) - - - - 1 Unknown - g.76200618C>T - - - ACADM_000018 MSCV_0015410 - - ; clinvar; - - - -
./. 1 - - c.480+71T>C p.(=) - - - - 1 Unknown - g.76200627T>C - - - ACADM_000019 MSCV_0015411 - - ; clinvar; - - - -
./. 1 - - c.481-9A>G p.(=) - - - - 1 Unknown - g.76205656A>G - - - ACADM_000020 MSCV_0015412 - - ; clinvar; - - - -
./. 1 - - c.481-1G>A p.? - - - - 1 Unknown - g.76205664G>A - - - ACADM_000021 MSCV_0015413 - - ; clinvar; - - - -
./. 1 - - c.501T>G p.(=) - - - - 1 Unknown - g.76205685T>G - - - ACADM_000022 MSCV_0015414 - - ; clinvar; - - - -
./. 1 - - c.515A>C p.(Asp172Ala) - - - - 1 Unknown - g.76205699A>C - - - ACADM_000023 MSCV_0015415 - - ; clinvar; - - - -
./. 1 - - c.520G>T p.(Ala174Ser) - - - - 1 Unknown - g.76205704G>T - - - ACADM_000024 MSCV_0015416 - - ; clinvar; - - - -
./. 1 - - c.538G>T p.(Ala180Ser) - - - - 1 Unknown - g.76205722G>T - - - ACADM_000025 MSCV_0015417 - - ; clinvar; - - - -
./. 1 - - c.570T>A p.(Asn190Lys) - - - - 1 Unknown - g.76205754T>A - - - ACADM_000026 MSCV_0015418 - - ; clinvar; - - - -
+/+, ./. 2 - 7/12 c.589A>G p.(Thr197Ala) probably_damaging(0.966) missense_variant - -, deleterious(0) 1 Unknown subst g.76205773A>G - 5.460 - ACADM_000003 MSCV_0000048 rs121434279 - ; clinvar; 9158144;9882619 - - -
./. 1 - - c.592A>G p.(Asn198Asp) - - - - 1 Unknown - g.76205776A>G - - - ACADM_000027 MSCV_0015420 - - ; clinvar; - - - -
+/+, ./. 2 - 7/12 c.595G>A p.(Gly199Arg) probably_damaging(0.997) missense_variant - -, deleterious(0) 1 Unknown subst g.76205779G>A - 5.460 - ACADM_000004 MSCV_0000049 rs121434278 - ; clinvar; 23757202;7929823;18241067 - - -
./. 1 - - c.611+1G>A p.? - - - - 1 Unknown - g.76205796G>A - - - ACADM_000028 MSCV_0015422 - - ; clinvar; - - - -
./. 1 - - c.611+2T>C p.? - - - - 1 Unknown - g.76205797T>C - - - ACADM_000029 MSCV_0015423 - - ; clinvar; - - - -
./. 1 - - c.611+5G>A p.? - - - - 1 Unknown - g.76205800G>A - - - ACADM_000030 MSCV_0015424 - - ; clinvar; - - - -
./. 1 - - c.612-18G>A p.(=) - - - - 1 Unknown - g.76211473G>A - - - ACADM_000031 MSCV_0015425 - - ; clinvar; - - - -
./. 1 - - c.614A>G p.(Tyr205Cys) - - - - 1 Unknown - g.76211493A>G - - - ACADM_000032 MSCV_0015426 - - ; clinvar; - - - -
./. 1 - - c.621A>C p.(Leu207Phe) - - - - 1 Unknown - g.76211500A>C - - - ACADM_000033 MSCV_0015427 - - ; clinvar; - - - -
./. 1 - - c.628C>T p.(Arg210Cys) - - - - 1 Unknown - g.76211507C>T - - - ACADM_000034 MSCV_0015428 - - ; clinvar; - - - -
./. 1 - - c.629G>A p.(Arg210His) - - - - 1 Unknown - g.76211508G>A - - - ACADM_000093 MSCV_0015429 - - ; clinvar; - - - -
./. 1 - - c.636T>C p.(=) - - - - 1 Unknown - g.76211515T>C - - - ACADM_000094 MSCV_0015430 - - ; clinvar; - - - -
./. 1 - - c.673G>A p.(Gly225Arg) - - - - 1 Unknown - g.76211552G>A - - - ACADM_000095 MSCV_0015431 - - ; clinvar; - - - -
./. 1 - - c.690A>G p.(=) - - - - 1 Unknown - g.76211569A>G - - - ACADM_000096 MSCV_0015432 - - ; clinvar; - - - -
./. 1 - - c.695C>A p.(Thr232Asn) - - - - 1 Unknown - g.76211574C>A - - - ACADM_000097 MSCV_0015433 - - ; clinvar; - - - -
./. 1 - - c.710T>C p.(Ile237Thr) - - - - 1 Unknown - g.76211589T>C - - - ACADM_000098 MSCV_0015434 - - ; clinvar; - - - -
./. 1 - - c.721-1G>A p.? - - - - 1 Unknown - g.76215103G>A - - - ACADM_000099 MSCV_0015435 - - ; clinvar; - - - -
./. 1 - - c.740G>A p.(Arg247Gln) - - - - 1 Unknown - g.76215123G>A - - - ACADM_000100 MSCV_0015436 - - ; clinvar; - - - -
+/+, ./. 2 - 9/12 c.742T>C p.(Cys248Arg) probably_damaging(0.997) missense_variant - -, deleterious(0) 1 Unknown subst g.76215125T>C - 5.860 - ACADM_000005 MSCV_0000050 rs121434276 - ; clinvar; 1684086 - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium