ClinVar (all) for Orgtrack (Select 506989) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Orgtrack

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666540	NM_000019.3:c.(72+1_73-1)_(435+1_436-1)del	ACAT1	Deletion	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666539	NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dup	ACAT1	Duplication	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666538	NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del	ACAT1, ACAT2	Deletion	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666537	NM_000019.3:c.(120+1_121-1)_(344+1_345-1)del	ACAT1	Deletion	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666536	NM_000019.4(ACAT1):c.120+374_731-68delinsTAA	ACAT1, LOC129390351	Indel (splice acceptor variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666535	NM_000019.4(ACAT1):c.1241_1245delinsGT (p.Asn414_Gly415delinsSer)	ACAT1	Indel (inframe_indel)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666534	NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs)	ACAT1 (A410fs)	Duplication (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666533	NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)	ACAT1 (H397D)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666532	NM_000019.4(ACAT1):c.1168T>C (p.Ser390Pro)	ACAT1 (S390P)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666531	NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)	ACAT1 (M389I)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GConflicting classifications of pathogenicity
Select item 666529	NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu)	ACAT1 (G388E)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666528	NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)	ACAT1 (N375S)	Single nucleotide variant (missense variant)	ACAT1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 666527	NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val)	ACAT1 (E354V)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666526	NM_000019.4(ACAT1):c.1059T>G (p.Asn353Lys)	ACAT1 (N353K)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666525	NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys)	ACAT1 (N353K)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666524	NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)	ACAT1 (I347T)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666523	NM_000019.4(ACAT1):c.1032dup (p.Glu345fs)	ACAT1 (E345fs)	Duplication (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666522	NM_000019.4(ACAT1):c.1016_1018dup (p.Asp339dup)	ACAT1	Duplication (inframe_insertion)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666521	NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs)	ACAT1 (D339fs)	Duplication (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666520	NM_000019.4(ACAT1):c.1006-1G>A	ACAT1	Single nucleotide variant (splice acceptor variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666517	NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr)	ACAT1 (I323T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 666516	NM_000019.4(ACAT1):c.951C>T (p.Asp317=)	ACAT1	Single nucleotide variant (synonymous variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666515	NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)	ACAT1 (D317N)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666514	NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup)	ACAT1	Duplication (inframe_insertion)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 666513	NM_000019.4(ACAT1):c.941-9T>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666512	NM_000019.4(ACAT1):c.940+1G>T	ACAT1	Single nucleotide variant (splice donor variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666511	NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro)	ACAT1 (A301P)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666510	NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys)	ACAT1 (T297K)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666509	NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile)	ACAT1 (T285I)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 666508	NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn)	ACAT1 (S284N)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 666507	NM_000019.4(ACAT1):c.844A>C (p.Asn282His)	ACAT1 (N282H)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666506	NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro)	ACAT1 (T277P)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 666505	NM_000019.4(ACAT1):c.826+5_826+9del	ACAT1	Deletion (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666504	NM_000019.4(ACAT1):c.826+5G>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666502	NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala)	ACAT1 (E255A)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 666501	NM_000019.4(ACAT1):c.760G>A (p.Glu254Lys)	ACAT1 (E254K)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 666500	NM_000019.4(ACAT1):c.759T>A (p.Asp253Glu)	ACAT1 (D253E)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666499	NM_000019.4(ACAT1):c.753AGA[1] (p.Glu252del)	ACAT1 (E252del +3 more)	Microsatellite (inframe_deletion +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666498	NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs)	ACAT1 (E252fs)	Insertion (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666497	NM_000019.4(ACAT1):c.731-46_752del	ACAT1	Deletion (splice acceptor variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666496	NM_000019.4(ACAT1):c.730+1G>A	ACAT1	Single nucleotide variant (splice donor variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666495	NM_000019.4(ACAT1):c.674C>A (p.Ala225Glu)	ACAT1 (A225E)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666494	NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg)	ACAT1 (S222R)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 666493	NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn)	ACAT1 (A215N)	Indel (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666492	NM_000019.4(ACAT1):c.655T>C (p.Tyr219His)	ACAT1 (Y219H)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666491	NM_000019.4(ACAT1):c.602C>T (p.Ala201Val)	ACAT1 (A201V)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 666490	NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)	ACAT1 (M193R)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666489	NM_000019.4(ACAT1):c.578T>C (p.Met193Thr)	ACAT1 (M193T)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666488	NM_000019.4(ACAT1):c.556G>T (p.Asp186Tyr)	ACAT1 (D186Y)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666487	NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe)	ACAT1 (L178F)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 666486	NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs)	ACAT1 (E154fs)	Indel (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666485	NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys)	ACAT1 (E154K)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 666484	NM_000019.4(ACAT1):c.446del (p.Val149fs)	ACAT1 (V149fs)	Deletion (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666483	NM_000019.4(ACAT1):c.435+1G>A	ACAT1	Single nucleotide variant (splice donor variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666482	NM_000019.4(ACAT1):c.431A>C (p.His144Pro)	ACAT1 (H144P)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666481	NM_000019.4(ACAT1):c.414_415del (p.Leu140fs)	ACAT1 (L140fs)	Deletion (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666480	NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly)	ACAT1 (A132G)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666479	NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)	ACAT1 (A127V)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666478	NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)	ACAT1 (C126S)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 666477	NM_000019.4(ACAT1):c.371A>G (p.Lys124Arg)	ACAT1 (K124R)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666476	NM_000019.4(ACAT1):c.370A>G (p.Lys124Glu)	ACAT1 (K124E)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666475	NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs)	ACAT1 (C119fs)	Indel (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666474	NM_000019.4(ACAT1):c.334+1G>A	ACAT1	Single nucleotide variant (splice donor variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666473	NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys)	ACAT1 (Q101K)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 666472	NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu)	ACAT1 (G100E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 666471	NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)	ACAT1 (Q96*)	Single nucleotide variant (nonsense)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666470	NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)	ACAT1 (E85del)	Microsatellite (inframe_deletion +3 more)	Deficiency of acetyl-CoA acetyltransferase	GConflicting classifications of pathogenicity
Select item 666469	NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)	ACAT1 (Q73P)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666468	NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)	ACAT1	Indel (inframe_indel)	Deficiency of acetyl-CoA acetyltransferase +1 more	GConflicting classifications of pathogenicity
Select item 666467	NM_000019.4(ACAT1):c.121-13T>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666466	NM_000019.4(ACAT1):c.121-3C>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GConflicting classifications of pathogenicity
Select item 666465	NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter)	ACAT1 (Y33*)	Single nucleotide variant (nonsense)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666464	NM_000019.4(ACAT1):c.86_87dup (p.Glu30fs)	ACAT1 (E30fs)	Microsatellite (frameshift variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666463	NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)	ACAT1 (Y28fs)	Microsatellite (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 666462	NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter)	ACAT1 (R27*)	Single nucleotide variant (nonsense)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666461	NM_000019.4(ACAT1):c.2T>C (p.Met1Thr)	ACAT1 (M1T)	Single nucleotide variant (missense variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666460	NM_000019.4(ACAT1):c.1A>G (p.Met1Val)	ACAT1 (M1V)	Single nucleotide variant (missense variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 633029	NM_000019.4(ACAT1):c.52dup (p.Leu18fs)	ACAT1 (L18fs)	Duplication (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 524080	NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs)	ACAT1 (E345fs)	Deletion (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic
Select item 429773	NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)	ACAT1 (I387T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 429749	NM_000019.4(ACAT1):c.1006-1G>C	ACAT1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 376832	NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)	ACAT1 (R208*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 302210	NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)	ACAT1 (A410V)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GConflicting classifications of pathogenicity
Select item 281026	NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp)	ACAT1 (G418D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 279672	NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)	ACAT1 (T297M)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 252925	NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)	ACAT1 (S218F)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 208341	NM_000019.4(ACAT1):c.149del (p.Thr50fs)	ACAT1 (T50fs)	Deletion (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 198684	NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp)	ACAT1 (E255D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 198381	NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)	ACAT1 (R208Q)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 198030	NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	ACAT1 (N158S)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +2 more	GPathogenic/Likely pathogenic
Select item 198029	NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)	ACAT1 (G152A)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 166650	NM_000019.4(ACAT1):c.826+1G>T	ACAT1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92297	NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)	ACAT1 (N158D)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 2846	NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)	ACAT1 (Q145E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2845	NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)	ACAT1 (A333P)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 2844	NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)	ACAT1 (I312T)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 2843	NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser)	ACAT1 (N93S)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 2842	NM_000019.4(ACAT1):c.1083dup (p.Ala362fs)	ACAT1 (A362fs)	Duplication (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 2841	NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)	ACAT1 (E345del +3 more)	Microsatellite (inframe_deletion +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 2840	NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)	ACAT1 (Q272*)	Single nucleotide variant (nonsense)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic

<< First< Prev

Page of 2