"CPT1A-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194835	NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)	CPT1A (N733S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 377755	NM_001876.4(CPT1A):c.2142G>A (p.Pro714=)	CPT1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1086126	NM_001876.4(CPT1A):c.2001C>T (p.Leu667=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GLikely benign
Select item 387345	NM_001876.4(CPT1A):c.1983C>T (p.Tyr661=)	CPT1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 749675	NM_001876.4(CPT1A):c.1845C>T (p.Phe615=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GLikely benign
Select item 706826	NM_001876.4(CPT1A):c.1806G>A (p.Thr602=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GLikely benign
Select item 439553	NM_001876.4(CPT1A):c.1770G>A (p.Glu590=)	CPT1A	Single nucleotide variant (synonymous variant)	CPT1A-related disorder +3 more	GLikely benign
Select item 1119000	NM_001876.4(CPT1A):c.1767C>T (p.Tyr589=)	CPT1A	Single nucleotide variant (synonymous variant)	CPT1A-related disorder +1 more	GLikely benign
Select item 2630152	NM_001876.4(CPT1A):c.1593_1594del (p.Glu531fs)	CPT1A (E531fs)	Microsatellite (frameshift variant)	CPT1A-related disorder	GLikely pathogenic
Select item 506868	NM_001876.4(CPT1A):c.1575+8C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency +2 more	GBenign/Likely benign
Select item 65644	NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)	CPT1A (P479L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 516475	NM_001876.4(CPT1A):c.1257G>A (p.Thr419=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	CPT1A-related disorder +2 more	GLikely benign
Select item 463964	NM_001876.4(CPT1A):c.1163+5G>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GLikely benign
Select item 772230	NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys)	CPT1A (E321K)	Single nucleotide variant (missense variant)	CPT1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 203655	NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln)	CPT1A (R288Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 784196	NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln)	CPT1A (K285Q)	Single nucleotide variant (missense variant)	CPT1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 726188	NM_001876.4(CPT1A):c.694-5A>G	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GLikely benign
Select item 389635	NM_001876.4(CPT1A):c.694-10C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency +2 more	GLikely benign
Select item 764489	NM_001876.4(CPT1A):c.633C>T (p.Val211=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GLikely benign
Select item 703881	NM_001876.4(CPT1A):c.492G>A (p.Leu164=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GLikely benign
Select item 377753	NM_001876.4(CPT1A):c.453+9G>A	CPT1A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 513496	NM_001876.4(CPT1A):c.357C>T (p.Ile119=)	CPT1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 618587	NM_001876.4(CPT1A):c.302C>T (p.Thr101Met)	CPT1A (T101M)	Single nucleotide variant (missense variant)	CPT1A-related disorder +2 more	GBenign/Likely benign
Select item 990122	NM_001876.4(CPT1A):c.263A>G (p.Asn88Ser)	CPT1A (N88S)	Single nucleotide variant (missense variant)	CPT1A-related disorder +2 more	GUncertain significance
Select item 509674	NM_001876.4(CPT1A):c.144C>T (p.Asn48=)	CPT1A	Single nucleotide variant (synonymous variant)	CPT1A-related disorder +2 more	GLikely benign
Select item 3032341	NM_001876.4(CPT1A):c.142-10C>T	CPT1A	Single nucleotide variant (intron variant)	CPT1A-related disorder	GLikely benign
Select item 93971	NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro)	CPT1A (S34P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1141588	NM_001876.4(CPT1A):c.51C>T (p.Asp17=)	CPT1A	Single nucleotide variant (synonymous variant)	CPT1A-related disorder +1 more	GLikely benign

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Items: 28