C1855114[trait identifier] AND "Counsyl"[submitter] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1423	NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	MMACHC (R132* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 555168	NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)	MMUT (L736F)	Single nucleotide variant (missense variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GConflicting classifications of pathogenicity
Select item 552549	NM_000255.4(MMUT):c.2197G>A (p.Val733Ile)	MMUT (V733I)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GUncertain significance
Select item 218998	NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)	MMUT (R727*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +3 more	GPathogenic
Select item 1881	NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)	MMUT (G717V)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +2 more	GPathogenic
Select item 554041	NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter)	MMUT (E711*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555523	NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer)	MMUT	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 218997	NM_000255.4(MMUT):c.2099T>A (p.Met700Lys)	MMUT (M700K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 218996	NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)	MMUT (R694W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 556516	NM_000255.4(MMUT):c.1990del (p.Ala664fs)	MMUT (A664fs)	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 552144	NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer)	MMUT	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 555787	NM_000255.4(MMUT):c.1957-2A>G	MMUT	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 550143	NM_000255.4(MMUT):c.1956+2T>C	MMUT	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 556782	NM_000255.4(MMUT):c.1946del (p.Pro649fs)	MMUT (P649fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551102	NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg)	MMUT (G642R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 426995	NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)	MMUT (G630E)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +2 more	GPathogenic/Likely pathogenic
Select item 551830	NM_000255.4(MMUT):c.1880A>G (p.His627Arg)	MMUT (H627R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 557096	NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg)	MMUT (G623R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1884	NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)	MMUT (G623R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 557270	NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg)	MMUT (L617R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 551499	NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)	MMUT (R616C)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 550276	NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg)	MMUT (P615R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 551764	NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg)	MMUT (I597R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 558328	NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter)	MMUT (E593*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554675	NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)	MMUT (R581*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +2 more	GPathogenic
Select item 284235	NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)	MMUT (F573S)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 554451	NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr)	MMUT (C560Y)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 556968	NM_000255.4(MMUT):c.1677-1G>C	MMUT	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 550012	NM_000255.4(MMUT):c.1677-1G>A	MMUT	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 357257	NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp)	MMUT (R557W)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 357258	NM_000255.4(MMUT):c.1614C>T (p.Thr538=)	MMUT	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203849	NM_000255.4(MMUT):c.1560+1G>T	MMUT	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 556124	NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)	MMUT (R511*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 222934	NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)	MMUT (E497*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic/Likely pathogenic
Select item 551275	NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)	MMUT (L494*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +2 more	GPathogenic
Select item 554873	NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)	MMUT (R474*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 495778	NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)	MMUT (R467*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 557114	NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter)	MMUT (E451*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554656	NM_000255.4(MMUT):c.1332+1del	MMUT	Deletion (splice donor variant)	not provided +1 more	GPathogenic
Select item 554278	NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)	MMUT (Y429*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 218990	NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)	MMUT (G427D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 554410	NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr)	MMUT (N407Y)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 550461	NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln)	MMUT (R403Q)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 167310	NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)	MMUT (R403*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 558672	NM_000255.4(MMUT):c.1156C>A (p.His386Asn)	MMUT (H386N)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 488555	NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs)	MMUT (A376fs)	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 556535	NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs)	MMUT (N365fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203846	NM_000255.4(MMUT):c.1106G>A (p.Arg369His)	MMUT (R369H)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 218989	NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)	MMUT (R369C)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +2 more	GPathogenic
Select item 222928	NM_000255.4(MMUT):c.1084-2A>G	MMUT	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203845	NM_000255.4(MMUT):c.1084-10A>G	MMUT	Single nucleotide variant (intron variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 558098	NM_000255.4(MMUT):c.1083+1G>A	MMUT	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 225184	NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)	MMUT (L347del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 495777	NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter)	MMUT (S342*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 553958	NM_000255.4(MMUT):c.1022dup (p.Asn341fs)	MMUT (N341fs)	Duplication (frameshift variant)	Methylmalonic acidemia +2 more	GPathogenic
Select item 423257	NM_000255.4(MMUT):c.1007del (p.Met336fs)	MMUT (M336fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 552752	NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)	MMUT (L328P)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 203844	NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)	MMUT (L328F)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 550893	NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)	MMUT (A324T)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 553978	NM_000255.4(MMUT):c.917C>T (p.Ser306Phe)	MMUT (S306F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 556865	NM_000255.4(MMUT):c.914T>C (p.Leu305Ser)	MMUT (L305S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 553762	NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)	MMUT (G284*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +2 more	GPathogenic
Select item 552691	NM_000255.4(MMUT):c.754-2A>G	MMUT	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 203856	NM_000255.4(MMUT):c.753+2T>A	MMUT	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 552079	NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)	MMUT (D244fs)	Insertion (frameshift variant)	Methylmalonic acidemia +2 more	GPathogenic
Select item 222920	NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)	MMUT (Y231*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 203855	NM_000255.4(MMUT):c.682C>T (p.Arg228Ter)	MMUT (R228*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 554641	NM_000255.4(MMUT):c.671_678dup (p.Val227fs)	MMUT (V227fs)	Duplication (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 556304	NM_000255.4(MMUT):c.669_674dup (p.Glu224_Phe225insLeuGlu)	MMUT	Duplication (inframe_insertion)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 552718	NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)	MMUT (E224*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +2 more	GPathogenic/Likely pathogenic
Select item 1886	NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)	MMUT (N219Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 551243	NM_000255.4(MMUT):c.654A>C (p.Gln218His)	MMUT (Q218H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 418341	NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)	MMUT (G215C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 218987	NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)	MMUT (G203R)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +2 more	GPathogenic
Select item 203854	NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)	MMUT (A191E)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +3 more	GPathogenic
Select item 551460	NM_000255.4(MMUT):c.556A>G (p.Met186Val)	MMUT (M186V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 426467	NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)	MMUT (R152*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 557678	NM_000255.4(MMUT):c.421G>A (p.Ala141Thr)	MMUT (A141T)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 558731	NM_000255.4(MMUT):c.385+5G>A	MMUT	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557041	NM_000255.4(MMUT):c.385+2T>C	MMUT	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557861	NM_000255.4(MMUT):c.360dup (p.Lys121Ter)	MMUT (K121*)	Duplication (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 1882	NM_000255.4(MMUT):c.349G>T (p.Glu117Ter)	MMUT (E117*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 100707	NM_000255.4(MMUT):c.323G>A (p.Arg108His)	MMUT (R108H)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +3 more	GPathogenic
Select item 1878	NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)	MMUT (W105R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 419283	NM_000255.4(MMUT):c.312del (p.Trp105fs)	MMUT (W105fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553695	NM_000255.4(MMUT):c.277C>T (p.Arg93Cys)	MMUT (R93C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 558311	NM_000255.4(MMUT):c.260G>A (p.Gly87Glu)	MMUT (G87E)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 553773	NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)	MMUT (P86L)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 466219	NM_000255.4(MMUT):c.160A>T (p.Lys54Ter)	MMUT (K54*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 222908	NM_000255.4(MMUT):c.129G>A (p.Trp43Ter)	MMUT (W43*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 92688	NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)	MMUT (R31*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +3 more	GPathogenic
Select item 1877	NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)	MMUT (Q18*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 357263	NM_000255.4(MMUT):c.41A>T (p.His14Leu)	MMUT (H14L)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 553287	NM_000255.4(MMUT):c.29dup (p.Leu10fs)	MMUT (L10fs)	Duplication (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic
Select item 100697	NM_000255.4(MMUT):c.-35G>T	MMUT	Single nucleotide variant (5 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance

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Items: 95