LOC126861244[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	LOC130006238, LOC130006239 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 148930	GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3	LOC130006287, LOC130006288 +96 more	Copy number gain	See cases	GLikely benign
Select item 2729901	NM_001876.4(CPT1A):c.1352+14C>G	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 390403	NM_001876.4(CPT1A):c.1352+14C>A	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2917670	NM_001876.4(CPT1A):c.1352+13C>T	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 861302	NM_001876.4(CPT1A):c.1352+6G>A	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 2445797	NM_001876.4(CPT1A):c.1352+5C>A	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 550291	NM_001876.4(CPT1A):c.1348_1352+4del	CPT1A, LOC126861244	Deletion (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 2849794	NM_001876.4(CPT1A):c.1352+1G>C	CPT1A, LOC126861244	Single nucleotide variant (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 1646108	NM_001876.4(CPT1A):c.1350C>T (p.Asp450=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1414801	NM_001876.4(CPT1A):c.1348G>A (p.Asp450Asn)	CPT1A, LOC126861244 (D450N)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 2680916	NM_001876.4(CPT1A):c.1347C>G (p.Tyr449Ter)	CPT1A, LOC126861244 (Y449*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 1150125	NM_001876.4(CPT1A):c.1347C>T (p.Tyr449=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 990112	NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln)	CPT1A, LOC126861244 (R447Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GConflicting classifications of pathogenicity
Select item 65641	NM_001876.4(CPT1A):c.1339C>T (p.Arg447Ter)	CPT1A, LOC126861244 (R447*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 1114842	NM_001876.4(CPT1A):c.1335C>T (p.His445=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1632495	NM_001876.4(CPT1A):c.1329A>G (p.Leu443=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1454023	NM_001876.4(CPT1A):c.1328dup (p.Leu444fs)	CPT1A, LOC126861244 (L444fs)	Duplication (frameshift variant)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic/Likely pathogenic
Select item 1349562	NM_001876.4(CPT1A):c.1325C>A (p.Ser442Tyr)	CPT1A, LOC126861244 (S442Y)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 1104141	NM_001876.4(CPT1A):c.1323A>G (p.Lys441=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1150421	NM_001876.4(CPT1A):c.1320C>T (p.Ala440=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 990113	NM_001876.4(CPT1A):c.1317C>T (p.Tyr439=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 681409	NM_001876.4(CPT1A):c.1302G>A (p.Thr434=)	LOC126861244, CPT1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2179508	NM_001876.4(CPT1A):c.1301C>T (p.Thr434Met)	CPT1A, LOC126861244 (T434M)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 370194	NM_001876.4(CPT1A):c.1298del (p.Asp433fs)	CPT1A, LOC126861244 (D433fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 1115545	NM_001876.4(CPT1A):c.1296G>C (p.Pro432=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 766388	NM_001876.4(CPT1A):c.1296G>A (p.Pro432=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1136562	NM_001876.4(CPT1A):c.1284A>G (p.Arg428=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 550261	NM_001876.4(CPT1A):c.1271AAG[1] (p.Glu425del)	CPT1A, LOC126861244 (E425del)	Microsatellite (inframe_deletion)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 2780809	NM_001876.4(CPT1A):c.1272A>G (p.Glu424=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1560824	NM_001876.4(CPT1A):c.1269T>C (p.Thr423=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 990114	NM_001876.4(CPT1A):c.1268C>T (p.Thr423Ile)	CPT1A, LOC126861244 (T423I)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 2752590	NM_001876.4(CPT1A):c.1257G>T (p.Thr419=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 516475	NM_001876.4(CPT1A):c.1257G>A (p.Thr419=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2688860	NM_001876.4(CPT1A):c.1252G>A (p.Val418Met)	CPT1A, LOC126861244 (V418M)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 166951	NM_001876.4(CPT1A):c.1251T>C (p.Phe417=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GBenign
Select item 137027	NM_001876.4(CPT1A):c.1251= (p.Phe417=)	LOC126861244, CPT1A	Single nucleotide variant (no sequence alteration)	Carnitine palmitoyl transferase 1A deficiency +1 more	GBenign
Select item 752724	NM_001876.4(CPT1A):c.1245G>A (p.Ala415=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1199290	NM_001876.4(CPT1A):c.1244C>T (p.Ala415Val)	CPT1A, LOC126861244 (A415V)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 9065	NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val)	CPT1A, LOC126861244 (A414V)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 1647587	NM_001876.4(CPT1A):c.1239A>G (p.Lys413=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1675195	NM_001876.4(CPT1A):c.1234G>A (p.Glu412Lys)	CPT1A, LOC126861244 (E412K)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 1575260	NM_001876.4(CPT1A):c.1227T>C (p.Asp409=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3001601	NM_001876.4(CPT1A):c.1218G>A (p.Gln406=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 645430	NM_001876.4(CPT1A):c.1216C>T (p.Gln406Ter)	CPT1A, LOC126861244 (Q406*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 1113947	NM_001876.4(CPT1A):c.1215G>A (p.Lys405=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2680928	NM_001876.4(CPT1A):c.1213A>T (p.Lys405Ter)	CPT1A, LOC126861244 (K405*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 2851329	NM_001876.4(CPT1A):c.1203del (p.Asn404fs)	CPT1A, LOC126861244 (N404fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 2051169	NM_001876.4(CPT1A):c.1202G>A (p.Arg401His)	CPT1A, LOC126861244 (R401H)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2187649	NM_001876.4(CPT1A):c.1201C>T (p.Arg401Cys)	CPT1A, LOC126861244 (R401C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 643437	NM_001876.4(CPT1A):c.1199G>C (p.Gly400Ala)	CPT1A, LOC126861244 (G400A)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 1383898	NM_001876.4(CPT1A):c.1192T>C (p.Tyr398His)	CPT1A, LOC126861244 (Y398H)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 2265595	NM_001876.4(CPT1A):c.1189G>A (p.Ala397Thr)	CPT1A, LOC126861244 (A397T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2127602	NM_001876.4(CPT1A):c.1188G>A (p.Gln396=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 985485	NM_001876.4(CPT1A):c.1184G>C (p.Arg395Pro)	CPT1A, LOC126861244 (R395P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 1055687	NM_001876.4(CPT1A):c.1183C>T (p.Arg395Cys)	CPT1A, LOC126861244 (R395C)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 3018763	NM_001876.4(CPT1A):c.1173G>A (p.Trp391Ter)	CPT1A, LOC126861244 (W391*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 2029334	NM_001876.4(CPT1A):c.1172G>A (p.Trp391Ter)	CPT1A, LOC126861244 (W391*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 2199202	NM_001876.4(CPT1A):c.1165G>A (p.Val389Ile)	CPT1A, LOC126861244 (V389I)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 1705365	NM_001876.4(CPT1A):c.1164-2A>G	CPT1A, LOC126861244	Single nucleotide variant (splice acceptor variant)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 2702223	NM_001876.4(CPT1A):c.1164-13A>G	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2158858	NM_001876.4(CPT1A):c.1164-14C>T	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2885779	NM_001876.4(CPT1A):c.1164-20G>A	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1326398	NM_001876.4(CPT1A):c.1164-36C>G	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293017	NM_001876.4(CPT1A):c.1164-119A>G	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193023	NM_001876.4(CPT1A):c.1164-121A>T	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 67