"Counsyl"[submitter] AND "CPT1A"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553739	NM_001876.4(CPT1A):c.2236-1G>A	CPT1A	Single nucleotide variant (intron variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 9071	NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)	CPT1A (G710E)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GPathogenic/Likely pathogenic
Select item 370101	NM_001876.4(CPT1A):c.2071C>T (p.Gln691Ter)	CPT1A (Q691*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic/Likely pathogenic
Select item 553067	NM_001876.4(CPT1A):c.2028+2T>G	CPT1A	Single nucleotide variant (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 370829	NM_001876.4(CPT1A):c.1997_1998insAAAA (p.Tyr666Ter)	CPT1A (Y666*)	Insertion (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic/Likely pathogenic
Select item 556048	NM_001876.4(CPT1A):c.1876-1G>C	CPT1A	Single nucleotide variant (splice acceptor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 9067	NM_001876.4(CPT1A):c.1876-1G>A	CPT1A	Single nucleotide variant (splice acceptor variant)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic/Likely pathogenic
Select item 555334	NM_001876.4(CPT1A):c.1875+10_1875+33del	CPT1A	Deletion (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 370557	NM_001876.4(CPT1A):c.1711C>T (p.Gln571Ter)	CPT1A (Q571*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 558009	NM_001876.4(CPT1A):c.1576-2A>G	CPT1A	Single nucleotide variant (splice acceptor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 551355	NM_001876.4(CPT1A):c.1575+1G>A	CPT1A	Single nucleotide variant (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 9066	NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys)	CPT1A (Y498C)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GConflicting classifications of pathogenicity
Select item 371151	NM_001876.4(CPT1A):c.1459-1G>A	CPT1A	Single nucleotide variant (splice acceptor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 553735	NM_001876.4(CPT1A):c.1458+1G>A	CPT1A	Single nucleotide variant (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 65644	NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)	CPT1A (P479L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 551684	NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg)	CPT1A (G465R)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GConflicting classifications of pathogenicity
Select item 371065	NM_001876.4(CPT1A):c.1386del (p.Phe462fs)	CPT1A (F462fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic/Likely pathogenic
Select item 550677	NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu)	CPT1A (S456L)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GConflicting classifications of pathogenicity
Select item 189151	NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)	CPT1A (K455T)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GPathogenic/Likely pathogenic
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 370194	NM_001876.4(CPT1A):c.1298del (p.Asp433fs)	LOC126861244, CPT1A (D433fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
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 550014	NM_001876.4(CPT1A):c.1163+2T>C	CPT1A	Single nucleotide variant (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic/Likely pathogenic
Select item 371246	NM_001876.4(CPT1A):c.1163+1G>A	CPT1A	Single nucleotide variant (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 556700	NM_001876.4(CPT1A):c.967+2T>C	CPT1A	Single nucleotide variant (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 370822	NM_001876.4(CPT1A):c.967+1G>A	CPT1A	Single nucleotide variant (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 370317	NM_001876.4(CPT1A):c.919C>T (p.Gln307Ter)	CPT1A (Q307*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 555600	NM_001876.4(CPT1A):c.772-1G>A	CPT1A	Single nucleotide variant (splice acceptor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 371403	NM_001876.4(CPT1A):c.772-2A>G	CPT1A	Single nucleotide variant (splice acceptor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 551055	NM_001876.4(CPT1A):c.771+1G>C	CPT1A	Single nucleotide variant (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 370429	NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)	CPT1A (R243*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic/Likely pathogenic
Select item 555179	NM_001876.4(CPT1A):c.694-2A>G	CPT1A	Single nucleotide variant (splice acceptor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 550152	NM_001876.4(CPT1A):c.693+1G>T	CPT1A	Single nucleotide variant (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 371611	NM_001876.4(CPT1A):c.693+1G>C	CPT1A	Single nucleotide variant (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 9063	NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter)	CPT1A (Q100*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency +1 more	GPathogenic/Likely pathogenic
Select item 371333	NM_001876.4(CPT1A):c.282-1G>A	CPT1A	Single nucleotide variant (splice acceptor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 93972	NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter)	CPT1A (Y74*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553934	NM_001876.4(CPT1A):c.194TGG[2] (p.Val67del)	CPT1A (V67del)	Microsatellite (inframe_deletion)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 370369	NM_001876.4(CPT1A):c.186G>A (p.Trp62Ter)	CPT1A (W62*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic

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Items: 39