"Illumina Laboratory Services, Illumina"[submitter] AND "APOA1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 302500	NM_000039.3(APOA1):c.*19C>G	APOA1	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 2 +4 more	GBenign
Select item 877608	NM_000039.3(APOA1):c.*17C>T	APOA1	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type +1 more	GLikely benign
Select item 302501	NM_000039.3(APOA1):c.732C>G (p.Pro244=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 877609	NM_000039.3(APOA1):c.705C>G (p.Leu235=)	APOA1	Single nucleotide variant (synonymous variant)	Familial visceral amyloidosis, Ostertag type +1 more	GUncertain significance
Select item 878622	NM_000039.3(APOA1):c.677C>T (p.Thr226Met)	APOA1 (T117M +1 more)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GUncertain significance
Select item 302502	NM_000039.3(APOA1):c.562G>T (p.Ala188Ser)	APOA1 (A188S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 302503	NM_000039.3(APOA1):c.498C>A (p.Ser166Arg)	APOA1 (S166R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 302504	NM_000039.3(APOA1):c.480G>T (p.Glu160Asp)	APOA1, APOA1-AS (E160D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 302505	NM_000039.3(APOA1):c.454G>A (p.Glu152Lys)	APOA1, APOA1-AS (E152K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 879222	NM_000039.3(APOA1):c.447G>A (p.Glu149=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Familial visceral amyloidosis, Ostertag type +1 more	GUncertain significance
Select item 302506	NM_000039.3(APOA1):c.284T>A (p.Phe95Tyr)	APOA1, APOA1-AS (F95Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 302507	NM_000039.3(APOA1):c.181G>A (p.Ala61Thr)	APOA1, APOA1-AS (A61T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign
Select item 879223	NM_000039.3(APOA1):c.178T>G (p.Ser60Ala)	APOA1, APOA1-AS (S60A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 302508	NM_000039.3(APOA1):c.168G>A (p.Gln56=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 880419	NM_000039.3(APOA1):c.127G>C (p.Val43Leu)	APOA1, APOA1-AS (V43L)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GLikely benign
Select item 302509	NM_000039.3(APOA1):c.116C>T (p.Ala39Val)	APOA1, APOA1-AS (A39V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 632642	NM_000039.3(APOA1):c.41C>T (p.Thr14Met)	APOA1, APOA1-AS (T14M)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +4 more	GUncertain significance
Select item 302510	NM_000039.3(APOA1):c.28G>A (p.Val10Met)	APOA1, APOA1-AS (V10M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 302511	NM_000039.3(APOA1):c.9T>C (p.Ala3=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 302512	NM_000039.3(APOA1):c.-11G>A	APOA1, APOA1-AS	Single nucleotide variant (5 prime UTR variant)	Familial visceral amyloidosis, Ostertag type +1 more	GLikely benign
Select item 877657	NM_000039.3(APOA1):c.-29G>A	APOA1, APOA1-AS	Single nucleotide variant (5 prime UTR variant)	Familial visceral amyloidosis, Ostertag type +1 more	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic

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Items: 22