All variants in the ACADM gene

Information The variants shown are described using the NM_000016.4 transcript reference sequence.

75 entries on 1 page. Showing entries 1 - 75.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. _1_1i c.(?_-437)_(30+1_31-1)del r.0? p.0? - pathogenic g.(?_76190036)_(76190503_76194085)del - -437-?_30+?del - ACADM_000011 - - - - Germline - - - 0 - Belen Perez
?/. - c.91C>T r.(?) p.(Arg31Cys) - VUS g.76194146C>T - - - ACADM_000041 - - - - Germline - - - 0 - Wenjuan Qiu
?/. - c.91C>T r.(?) p.(Arg31Cys) - VUS g.76194146C>T - - - ACADM_000041 - - - - Germline - - - 0 - Wenjuan Qiu
?/. - c.127G>A r.(?) p.(Glu43Lys) - VUS g.76198337G>A g.75732652G>A - - ACADM_000012 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147559466 Germline - 2/2794 individuals - 0 - Mohammed Faruq
+?/. - c.157C>T r.(?) p.(Arg53Cys) - likely pathogenic g.76198367C>T g.75732682C>T - - ACADM_000016 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398123072 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.157C>T r.(?) p.(Arg53Cys) - VUS g.76198367C>T - - - ACADM_000016 - - - - Germline - - - 0 - Wenjuan Qiu
+/. - c.199T>C r.(?) p.(Tyr67His) - pathogenic (recessive) g.76198409T>C - - - ACADM_000018 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - Johan den Dunnen
?/. - c.250C>T r.(?) p.(Leu84Phe) - VUS g.76198571C>T g.75732886C>T - - ACADM_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.308T>A r.(?) p.(Phe103Tyr) ACMG VUS g.76199234T>A - - - ACADM_000019 - - - - Germline - - - 0 - Wenjuan Qiu
?/. - c.308T>A r.(?) p.(Phe103Tyr) - VUS g.76199234T>A - - - ACADM_000019 - - - - Germline - - - 0 - Wenjuan Qiu
+?/. - c.338C>A r.(?) p.(Ala113Asp) - likely pathogenic g.76199264C>A g.75733579C>A - - ACADM_000006 - - - - Germline yes - - 0 - Belen Perez
?/. - c.338_341del r.(?) p.(Ala113Valfs*36) - VUS g.76199264_76199267del - 338_341delCTTA - ACADM_000023 - - - - Germline - - - 0 - Wenjuan Qiu
?/. - c.351A>C r.(=) p.(=) - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.351A>C r.(=) p.(=) - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.351A>C r.(=) p.(=) - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.351A>C r.(=) p.(=) - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.351A>C r.(=) p.(=) - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.351A>C r.(=) p.(=) - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.351A>C r.(=) p.(=) - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
-?/. - c.351A>C r.(?) p.(Thr117=) - likely benign g.76199277A>C g.75733592A>C ACADM(NM_001127328.2):c.363A>C (p.T121=) - ACADM_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.351A>C r.(=) p.(=) - likely benign g.76199277A>C g.75733592A>C - - ACADM_000001 31 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74090726 Germline - 31/2794 individuals - 0 - Mohammed Faruq
?/. - c.385G>A r.(?) p.(Gly129Arg) - VUS g.76199311G>A - - - ACADM_000025 - - - - Germline - - - - - Wenjuan Qiu
?/. - c.387+1del r.spl p.? - VUS g.76199314del - 387+1delG - ACADM_000040 - - - - Germline - - - 0 - Wenjuan Qiu
?/. - c.387+1del r.spl p.? - VUS g.76199314del - 387+1delG - ACADM_000040 - - - - Germline - - - 0 - Wenjuan Qiu
+?/. - c.449_452del r.(?) p.(Thr150Argfs*4) ACMG pathogenic (recessive) g.76200537_76200540del - 449_452delCTGA - ACADM_000020 - - - - Germline - - - 0 - Wenjuan Qiu
+?/. - c.449_452del r.(?) p.(Thr150Argfs*4) ACMG pathogenic (recessive) g.76200537_76200540del - 449_452delCTGA - ACADM_000020 - - - - Germline - - - 0 - Wenjuan Qiu
+?/. - c.449_452del r.(?) p.(Thr150Argfs*4) - pathogenic (recessive) g.76200537_76200540del - 449_452delCTGA - ACADM_000020 - - - - Germline - - - 0 - Wenjuan Qiu
+?/. - c.449_452del r.(?) p.(Thr150Argfs*4) - pathogenic (recessive) g.76200537_76200540del - 449_452delCTGA - ACADM_000020 - - - - Germline - - - 0 - Wenjuan Qiu
+?/. - c.449_452del r.(?) p.(Thr150Argfs*4) - pathogenic (recessive) g.76200537_76200540del g.75734852_75734855del 449_452delCTGA - ACADM_000020 - - - - Germline - - - 0 - Wenjuan Qiu
+?/. - c.449_452del r.(?) p.(Thr150Argfs*4) - pathogenic (recessive) g.76200537_76200540del - 449_452delCTGA - ACADM_000020 - - - - Germline - - - 0 - Wenjuan Qiu
+?/. - c.449_452del r.(?) p.(Thr150Argfs*4) - pathogenic (recessive) g.76200537_76200540del - 449_452delCTGA - ACADM_000020 - - - - Germline - - - 0 - Wenjuan Qiu
+?/. - c.449_452del r.(?) p.(Thr150Argfs*4) - pathogenic (recessive) g.76200537_76200540del - 449_452delCTGA - ACADM_000020 - - - - Germline - - - 0 - Wenjuan Qiu
+?/. - c.449_452del r.(?) p.(Thr150Argfs*4) - pathogenic (recessive) g.76200537_76200540del - 449_452delCTGA - ACADM_000020 - - - - Germline - - - 0 - Wenjuan Qiu
+?/. - c.449_452del r.(?) p.(Thr150Argfs*4) - pathogenic (recessive) g.76200537_76200540del - 449_452delCTGA - ACADM_000020 - - - - Germline - - - 0 - Wenjuan Qiu
+?/. - c.449_452del r.(?) p.(Thr150Argfs*4) - pathogenic (recessive) g.76200537_76200540del - 449_452 delCTGA - ACADM_000020 - - - - Germline - - - 0 - Wenjuan Qiu
?/. 6 c.461T>G r.(?) p.(Leu154Trp) ACMG likely pathogenic (recessive) g.76200549T>G - - - ACADM_000028 - - - - Germline yes - - - - Wenjuan Qiu
?/. - c.554_586del r.(?) p.(Ile185_Gly196delinsArg) - VUS g.76205750_76205782del - - - ACADM_000022 - - - - Germline - - - 0 - Wenjuan Qiu
?/. - c.587G>A r.(?) p.(Gly196Glu) - VUS g.76205783G>A - - - ACADM_000029 - - - - Germline - - - - - Wenjuan Qiu
+?/. - c.599+3A>G r.spl? p.? - likely pathogenic g.76205798A>G g.75740113A>G - - ACADM_000007 - - - - Germline yes - - 0 - Belen Perez
?/. - c.624del r.(?) p.(Pro209Glnfs*30) - VUS g.76211515del - - - ACADM_000030 - - - - Germline - - - - - Wenjuan Qiu
?/. 8 c.668T>C r.(?) p.(Ile223Thr) ACMG VUS g.76211559T>C - - - ACADM_000031 - - - - Germline - - - - - Wenjuan Qiu
?/. - c.668T>C r.(?) p.(Ile223Thr) - VUS g.76211559T>C - - - ACADM_000031 - - - - Germline - - - - - Wenjuan Qiu
?/. - c.709G>C r.(?) p.(Glu237Gln) ACMG VUS g.76215104G>C - - - ACADM_000024 - - - - Germline - - - 0 - Wenjuan Qiu
?/. - c.769G>A r.(?) p.(Val257Met) - VUS g.76215164G>A - - - ACADM_000034 - - - - Germline - - - - - Wenjuan Qiu
+/. - c.794_803delinsTTTAA r.(?) p.(Gly265Valfs*2) - pathogenic g.76215189_76215198delinsTTTAA g.75749504_75749513delinsTTTAA 794_803delGTGACGGAGCinsTTTAA - ACADM_000008 - - - - Germline - - - 0 - Belen Perez
+?/. - c.797A>G r.(?) p.(Asp266Gly) - likely pathogenic g.76215192A>G g.75749507A>G - - ACADM_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.799G>A r.(?) p.(Gly267Arg) - likely pathogenic g.76215194G>A g.75749509G>A - - ACADM_000017 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121434274 Germline - 5/2795 individuals - 0 - Mohammed Faruq
+/. - c.799G>A r.(?) p.(Gly267Arg) - pathogenic (recessive) g.76215194G>A - - - ACADM_000017 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - Johan den Dunnen
?/. - c.820A>G r.(?) p.(Met274Val) - VUS g.76215215A>G g.75749530A>G ACADM(NM_000016.4):c.820A>G (p.(Met274Val)) - ACADM_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.845C>G r.(?) p.(Pro282Arg) - likely pathogenic g.76215240C>G g.75749555C>G - - ACADM_000009 - - - - Germline - - - 0 - Belen Perez
?/. - c.905A>G r.(?) p.(Tyr302Cys) - VUS g.76216191A>G - - - ACADM_000035 - - - - Germline - - - - - Wenjuan Qiu
?/. - c.940G>C r.(?) p.(Val314Leu) - VUS g.76216226G>C g.75750541G>C - - ACADM_000010 - - - - Germline - - - 0 - Belen Perez
?/. - c.945+2T>G r.spl p.? ACMG VUS g.76216233T>G - - - ACADM_000039 - - - - Germline - - - 0 - Wenjuan Qiu
?/. - c.970_971delinsAT r.(?) p.(Ala324Ile) - VUS g.76226831_76226832delinsAT - - - ACADM_000042 - - - - Germline - - - 0 - Wenjuan Qiu
?/. - c.985A>G r.(?) p.(Lys329Glu) - VUS g.76226846A>G g.75761161A>G - - ACADM_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. - c.985A>G r.(?) p.(Lys329Glu) - pathogenic g.76226846A>G g.75761161A>G ACADM(NM_001286043.1):c.1084A>G (p.K362E) - ACADM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.985A>G r.(?) p.(Lys329Glu) - pathogenic g.76226846A>G g.75761161A>G - - ACADM_000003 - - - - Germline yes - - 0 - Belen Perez
+/. - c.985A>G r.(?) p.(Lys329Glu) - pathogenic g.76226846A>G g.75761161A>G ACADM(NM_001286043.1):c.1084A>G (p.K362E) - ACADM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.985A>G r.(?) p.(Lys329Glu) - VUS g.76226846A>G g.75761161A>G - - ACADM_000003 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77931234 Germline - 2/2795 individuals - 0 - Mohammed Faruq
+/. - c.985A>G r.(?) p.(Lys329Glu) - pathogenic (recessive) g.76226846A>G - - - ACADM_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - Johan den Dunnen
+/. - c.985A>G r.(?) p.(Lys329Glu) - pathogenic (recessive) g.76226846A>G - - - ACADM_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - Johan den Dunnen
+/. - c.985A>G r.(?) p.(Lys329Glu) - pathogenic (recessive) g.76226846A>G - - - ACADM_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - Johan den Dunnen
+/. - c.985A>G r.(?) p.(Lys329Glu) - pathogenic (recessive) g.76226846A>G - - - ACADM_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - Johan den Dunnen
+/. - c.985A>G r.(?) p.(Lys329Glu) - pathogenic (recessive) g.76226846A>G - - - ACADM_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - Johan den Dunnen
+/. - c.985A>G r.(?) p.(Lys329Glu) - pathogenic (recessive) g.76226846A>G - - - ACADM_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - Johan den Dunnen
+/. - c.985A>G r.(?) p.(Lys329Glu) - pathogenic (recessive) g.76226846A>G - - - ACADM_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - Johan den Dunnen
+/. - c.985A>G r.(?) p.(Lys329Glu) - pathogenic g.76226846A>G - ACADM(NM_001286043.1):c.1084A>G (p.K362E) - ACADM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1040G>T r.(?) p.(Gly347Val) - VUS g.76226901G>T - - - ACADM_000021 - - - - Germline - - - 0 - Wenjuan Qiu
?/. - c.1045C>T r.(?) p.(Arg349*) - likely pathogenic (recessive) g.76226906C>T - - - ACADM_000043 - - - - Germline - - - 0 - Wenjuan Qiu
?/. - c.1085G>A r.(?) p.(Gly362Glu) - VUS g.76226946G>A - - - ACADM_000036 - - - - Germline - - - - - Wenjuan Qiu
?/. - c.1088A>G r.(?) p.(Asp363Gly) - VUS g.76226949A>G - - - ACADM_000037 - - - - Germline - - - - - Wenjuan Qiu
?/. - c.1091T>C r.(?) p.(Ile364Thr) - VUS g.76226952T>C g.75761267T>C - - ACADM_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1161A>G r.(?) p.(Val387=) - benign g.76227022A>G g.75761337A>G ACADM(NM_001127328.2):c.1173A>G (p.V391=), ACADM(NM_001286043.1):c.1260A>G (p.V420=) - ACADM_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1161A>G r.(?) p.(Val387=) - VUS g.76227022A>G g.75761337A>G ACADM(NM_001127328.2):c.1173A>G (p.V391=), ACADM(NM_001286043.1):c.1260A>G (p.V420=) - ACADM_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1229T>C r.(?) p.(Ile410Thr) - VUS g.76228411T>C - - - ACADM_000038 - - - - Germline - - - - - Wenjuan Qiu
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