"Ambry Genetics"[submitter] AND "APOC3"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2227365	NM_000040.3(APOC3):c.10C>T (p.Arg4Trp)	APOC3 (R4W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2565487	NM_000040.3(APOC3):c.12G>A (p.Arg4=)	APOC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2450867	NM_000040.3(APOC3):c.13G>A (p.Val5Ile)	APOC3 (V5I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1736872	NM_000040.3(APOC3):c.39G>A (p.Ala13=)	APOC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1737833	NM_000040.3(APOC3):c.40C>T (p.Leu14Phe)	APOC3 (L14F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1743950	NM_000040.3(APOC3):c.48C>T (p.Ala16=)	APOC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 139560	NM_000040.3(APOC3):c.55+1G>A	APOC3	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1754979	NM_000040.3(APOC3):c.66G>A (p.Glu22=)	APOC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1756564	NM_000040.3(APOC3):c.69C>T (p.Ala23=)	APOC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1757171	NM_000040.3(APOC3):c.70G>A (p.Glu24Lys)	APOC3 (E24K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2565489	NM_000040.3(APOC3):c.77C>T (p.Ala26Val)	APOC3 (A26V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1765432	NM_000040.3(APOC3):c.90_95dup (p.Phe31_Met32insIlePhe)	APOC3	Duplication (inframe_insertion)	Cardiovascular phenotype	GUncertain significance
Select item 2550784	NM_000040.3(APOC3):c.95T>A (p.Met32Lys)	APOC3 (M32K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1321458	NM_000040.3(APOC3):c.99G>A (p.Gln33=)	APOC3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3231955	NM_000040.3(APOC3):c.100G>T (p.Gly34Cys)	APOC3 (G34C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 518235	NM_000040.3(APOC3):c.102T>C (p.Gly34=)	APOC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2497668	NM_000040.3(APOC3):c.114C>T (p.His38=)	APOC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2562106	NM_000040.3(APOC3):c.116C>A (p.Ala39Asp)	APOC3 (A39D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1744431	NM_000040.3(APOC3):c.118A>G (p.Thr40Ala)	APOC3 (T40A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 974954	NM_000040.3(APOC3):c.126C>T (p.Thr42=)	APOC3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 139561	NM_000040.3(APOC3):c.127G>A (p.Ala43Thr)	APOC3 (A43T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1778729	NM_000040.3(APOC3):c.171G>C (p.Gln57His)	APOC3 (Q57H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1778941	NM_000040.3(APOC3):c.172C>A (p.Gln58Lys)	APOC3 (Q58K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2450866	NM_000040.3(APOC3):c.175G>T (p.Ala59Ser)	APOC3 (A59S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1782839	NM_000040.3(APOC3):c.192C>T (p.Thr64=)	APOC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3308463	NM_000040.3(APOC3):c.223A>G (p.Ser75Gly)	APOC3 (S75G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1790865	NM_000040.3(APOC3):c.240G>A (p.Lys80=)	APOC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1796583	NM_000040.3(APOC3):c.282T>C (p.Thr94=)	APOC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3308457	NM_000040.3(APOC3):c.288C>T (p.Ala96=)	APOC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1797265	NM_000040.3(APOC3):c.288C>A (p.Ala96=)	APOC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

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Items: 30