C0220710[trait identifier] AND "Counsyl"[submitter] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226052	NM_000016.6(ACADM):c.-17C>G	ACADM	Single nucleotide variant (5 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GUncertain significance
Select item 370802	NM_000016.6(ACADM):c.1A>G (p.Met1Val)	ACADM (M1V)	Single nucleotide variant (missense variant +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 555765	NM_000016.6(ACADM):c.3G>C (p.Met1Ile)	ACADM (M1I)	Single nucleotide variant (missense variant +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 551031	NM_000016.6(ACADM):c.30+2T>C	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 551808	NM_000016.6(ACADM):c.76_78dup (p.Lys26dup)	ACADM	Duplication (inframe_insertion +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 226104	NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer)	ACADM	Duplication (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 370561	NM_000016.6(ACADM):c.118+1G>T	ACADM	Single nucleotide variant (splice donor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 226101	NM_000016.6(ACADM):c.118+18T>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GBenign/Likely benign
Select item 281077	NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)	ACADM (Q45R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92258	NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)	ACADM (R53C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 371320	NM_000016.6(ACADM):c.173_174del (p.Glu58fs)	ACADM (E58fs +2 more)	Microsatellite (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 377419	NM_000016.6(ACADM):c.177A>C (p.Glu59Asp)	ACADM (E59D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 557685	NM_000016.6(ACADM):c.212G>A (p.Gly71Asp)	ACADM (G71D +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 370830	NM_000016.6(ACADM):c.216+1G>T	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 370428	NM_000016.6(ACADM):c.224del (p.Val75fs)	ACADM (V79fs +2 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 188934	NM_000016.6(ACADM):c.244dup (p.Trp82fs)	ACADM (W46fs +2 more)	Duplication (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic
Select item 226097	NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)	ACADM (L84F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370359	NM_000016.6(ACADM):c.270_271del (p.Ile91fs)	ACADM (I55fs +2 more)	Microsatellite (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 551514	NM_000016.6(ACADM):c.286+2T>G	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 197615	NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)	ACADM (L111S +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 226068	NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)	ACADM (C116Y +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 92263	NM_000016.6(ACADM):c.351A>C (p.Thr117=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 554729	NM_000016.6(ACADM):c.356T>A (p.Val119Asp)	ACADM (V119D +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 188719	NM_000016.6(ACADM):c.387+1del	ACADM	Deletion (splice donor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic
Select item 554089	NM_000016.6(ACADM):c.387+2dup	ACADM	Duplication (splice donor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 371544	NM_000016.6(ACADM):c.387+1G>A	ACADM	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic
Select item 371073	NM_000016.6(ACADM):c.387+1G>T	ACADM	Single nucleotide variant (splice donor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 552529	NM_000016.6(ACADM):c.388-19T>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 281016	NM_000016.6(ACADM):c.388-5G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 226079	NM_000016.6(ACADM):c.388-3T>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 226055	NM_000016.6(ACADM):c.395C>G (p.Pro132Arg)	ACADM (P132R +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 226062	NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)	ACADM (K144del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371546	NM_000016.6(ACADM):c.431_434del (p.Lys144fs)	ACADM (K144fs +3 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 370885	NM_000016.6(ACADM):c.437del (p.Leu146fs)	ACADM (L150fs +3 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 198025	NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)	ACADM (R152K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 189036	NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	ACADM (T150fs +3 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 226059	NM_000016.6(ACADM):c.447G>T (p.Met149Ile)	ACADM (M149I +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 557423	NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)	ACADM (L154W +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 553233	NM_000016.6(ACADM):c.469-2A>C	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 550256	NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys)	ACADM (Y158C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 226072	NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)	ACADM (D168A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554594	NM_000016.6(ACADM):c.510_527del (p.Gly171_Ala176del)	ACADM	Deletion (inframe_deletion +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 557739	NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)	ACADM (M1del)	Deletion (inframe_deletion +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 555395	NM_000016.6(ACADM):c.539_541del (p.Gly180del)	ACADM (G180del +3 more)	Deletion (inframe_deletion +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 557798	NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)	ACADM (D181G +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 198379	NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)	ACADM (N190K +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 226100	NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)	ACADM (N194D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3594	NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)	ACADM (G199R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 226060	NM_000016.6(ACADM):c.599+1G>A	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 370479	NM_000016.6(ACADM):c.599+2T>C	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 226070	NM_000016.6(ACADM):c.599+5G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 92267	NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)	ACADM (R210C +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 556697	NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)	ACADM (R206L +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 92268	NM_000016.6(ACADM):c.617G>A (p.Arg206His)	ACADM (R210H +3 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 298071	NM_000016.6(ACADM):c.624T>C (p.Asp208=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 203539	NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)	ACADM (I233T +4 more)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +2 more	GPathogenic/Likely pathogenic
Select item 554398	NM_000016.6(ACADM):c.708+2T>G	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 555276	NM_000016.6(ACADM):c.708+6G>T	ACADM	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 198979	NM_000016.6(ACADM):c.709-13A>G	ACADM	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 552145	NM_000016.6(ACADM):c.709-2A>C	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 370633	NM_000016.6(ACADM):c.709-1G>A	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 3598	NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)	ACADM (S245L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 226054	NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)	ACADM (E253K +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 226099	NM_000016.6(ACADM):c.817_829del (p.Ala273fs)	ACADM (A237fs +4 more)	Deletion (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 555273	NM_000016.6(ACADM):c.826_828delinsCC (p.Ala276fs)	ACADM (A276fs +4 more)	Indel (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 550313	NM_000016.6(ACADM):c.843A>T (p.Arg281Ser)	ACADM (R281S +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 558296	NM_000016.6(ACADM):c.850-8_850-7insTATCTTAAAATACTTAA	ACADM	Insertion (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 558297	NM_000016.6(ACADM):c.850-3_850-2insTAAAAT	ACADM	Insertion (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 188748	NM_000016.6(ACADM):c.850-2A>G	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 226058	NM_000016.6(ACADM):c.907G>A (p.Ala303Thr)	ACADM (A303T +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 226077	NM_000016.6(ACADM):c.926dup (p.Gly310fs)	ACADM (G121fs +4 more)	Duplication (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 558685	NM_000016.6(ACADM):c.946-6T>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 265452	NM_000016.6(ACADM):c.946-2A>C	ACADM	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 370532	NM_000016.6(ACADM):c.949C>T (p.Gln317Ter)	ACADM (Q317* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 371224	NM_000016.6(ACADM):c.957_958del (p.Ser320fs)	ACADM (S320fs +4 more)	Microsatellite (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 370434	NM_000016.6(ACADM):c.959C>A (p.Ser320Ter)	ACADM (S320* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 189019	NM_000016.6(ACADM):c.977T>C (p.Met326Thr)	ACADM (M326T +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 226096	NM_000016.6(ACADM):c.984del (p.Met328fs)	ACADM (M328fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3587	NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)	ACADM (Q149* +4 more)	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370405	NM_000016.6(ACADM):c.1045del (p.Arg349fs)	ACADM (R160fs +4 more)	Deletion (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 189016	NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)	ACADM (R349* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 371613	NM_000016.6(ACADM):c.1073del (p.Lys358fs)	ACADM (K391fs +4 more)	Deletion (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 553696	NM_000016.6(ACADM):c.1073A>T (p.Lys358Met)	ACADM (K358M +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 370160	NM_000016.6(ACADM):c.1114dup (p.Ala372fs)	ACADM (A336fs +4 more)	Duplication (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 371122	NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter)	ACADM (E384* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 550206	NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg)	ACADM (K395R +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 555602	NM_000016.6(ACADM):c.1194+1G>A	ACADM	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370880	NM_000016.6(ACADM):c.1195-2A>T	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 552553	NM_000016.6(ACADM):c.1195-1G>C	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 556950	NM_000016.6(ACADM):c.1205G>T (p.Gly402Val)	ACADM (G402V +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 555100	NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)	ACADM (T403A +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203543	NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr)	ACADM (I416T +4 more)	Single nucleotide variant (missense variant)	See cases +3 more	GConflicting classifications of pathogenicity
Select item 557729	NM_000016.6(ACADM):c.1249_1251del (p.Asp417del)	ACADM (D417del +4 more)	Deletion (inframe_deletion)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 488675	NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)	ACADM (Y419* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554612	NM_000016.6(ACADM):c.1264T>G (p.Ter422Glu)	ACADM	Single nucleotide variant (stop lost)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 555552	NM_000016.6(ACADM):c.1265A>T (p.Ter422Leu)	ACADM	Single nucleotide variant (stop lost)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance

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Items: 96