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

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

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 9069	NM_001876.4(CPT1A):c.2126G>A (p.Gly709Glu)	CPT1A (G709E)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 9068	NM_001031847.2(CPT1A):c.(?_1744)_2107del (p.Met582Glnfs)	CPT1A	Deletion	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 65651	NM_001876.4(CPT1A):c.2028+3_2028+6del	CPT1A	Microsatellite (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	Gnot provided
Select item 65649	NM_001876.4(CPT1A):c.1737C>A (p.Tyr579Ter)	CPT1A (Y579*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	Gnot provided
Select item 65648	NM_001876.4(CPT1A):c.1600del (p.Ser533_Leu534insTer)	CPT1A	Deletion (nonsense)	Carnitine palmitoyl transferase 1A deficiency	Gnot provided
Select item 65646	NM_001876.4(CPT1A):c.1494T>A (p.Tyr498Ter)	CPT1A (Y498*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	Gnot provided
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 65645	NM_001876.4(CPT1A):c.1451T>C (p.Leu484Pro)	CPT1A (L484P)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	Gnot provided
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 65643	NM_001876.4(CPT1A):c.1425G>A (p.Trp475Ter)	CPT1A (W475*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	Gnot provided
Select item 1526285	NM_001876.4(CPT1A):c.1395G>T (p.Gly465=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 65642	NM_001876.4(CPT1A):c.1393G>T (p.Gly465Trp)	CPT1A (G465W)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	Gnot provided
Select item 9061	NM_001876.4(CPT1A):c.1361A>G (p.Asp454Gly)	CPT1A (D454G)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
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 9062	NM_001876.4(CPT1A):c.1079A>G (p.Glu360Gly)	CPT1A (E360G)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 65640	NM_001876.4(CPT1A):c.1069C>T (p.Arg357Trp)	CPT1A (R357W)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 65639	NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val)	CPT1A (F343V)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GConflicting classifications of pathogenicity
Select item 9070	NM_001876.4(CPT1A):c.948del (p.Ile317fs)	CPT1A (I317fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 65659	NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly)	CPT1A (R316G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 65657	NM_001876.4(CPT1A):c.941C>T (p.Thr314Ile)	CPT1A (T314I)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 65656	NM_001876.4(CPT1A):c.912C>G (p.Cys304Trp)	CPT1A (C304W)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	Gnot provided
Select item 65655	NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr)	CPT1A (A275T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 65654	NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter)	CPT1A (R160*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 65653	NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys)	CPT1A (R123C)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GConflicting classifications of pathogenicity
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 65661	NM_001876.4(CPT1A):c.96T>G (p.Tyr32Ter)	CPT1A (Y32*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	Gnot provided

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27