"OMIM"[submitter] AND "APOA1-AS"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17919	NC_000011.10:g.(?_116800700)_(116841000_?)del	APOA1, APOA1-AS +3 more	Deletion	Apolipoprotein A-I deficiency	GPathogenic
Select item 17918	NM_000040.3(APOC3):c.-14+307_0inv	APOA1, APOA1-AS +1 more	Inversion (splice acceptor variant +2 more)	Apolipoproteins a-i and c-iii, combined deficiency of +1 more	GPathogenic
Select item 17913	NM_000039.3(APOA1):c.478G>A (p.Glu160Lys)	APOA1, APOA1-AS (E160K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	APOLIPOPROTEIN A-I (NORWAY)	GPathogenic
Select item 17911	NM_000039.3(APOA1):c.391A>T (p.Lys131Ter)	APOA1, APOA1-AS (K131* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	APOLIPOPROTEIN A-I (MARBURG)	GPathogenic
Select item 17931	NM_000039.3(APOA1):c.341T>C (p.Leu114Pro)	APOA1, APOA1-AS (L114P +1 more)	Single nucleotide variant (missense variant)	Amyloidosis, cardiac and cutaneous	GPathogenic
Select item 17922	NM_000039.3(APOA1):c.322C>T (p.Gln108Ter)	APOA1, APOA1-AS (Q108*)	Single nucleotide variant (nonsense)	Apolipoprotein A-I deficiency	GPathogenic
Select item 17927	NM_000039.3(APOA1):c.250_284delinsGTCAC (p.Leu84_Phe95delinsValThr)	APOA1, APOA1-AS	Indel (inframe_indel)	Familial visceral amyloidosis, Ostertag type	GPathogenic
Select item 17923	NM_000039.3(APOA1):c.251T>G (p.Leu84Arg)	APOA1, APOA1-AS (L84R)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type	GPathogenic
Select item 17928	NM_000039.3(APOA1):c.220T>C (p.Trp74Arg)	APOA1, APOA1-AS (W74R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 17926	NM_000039.3(APOA1):c.166C>T (p.Gln56Ter)	APOA1, APOA1-AS (Q56*)	Single nucleotide variant (nonsense)	Apolipoprotein A-I deficiency	GPathogenic
Select item 17917	NM_000039.3(APOA1):c.148G>C (p.Gly50Arg)	APOA1, APOA1-AS (G50R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 17920	NM_000039.3(APOA1):c.101G>T (p.Arg34Leu)	APOA1, APOA1-AS (R34L)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2, intermediate +3 more	GUncertain significance
Select item 504196	NM_000039.3(APOA1):c.85dup (p.Gln29fs)	APOA1, APOA1-AS (Q29fs)	Duplication (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 17915	NM_000039.3(APOA1):c.83C>G (p.Pro28Arg)	APOA1, APOA1-AS (P28R)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 17914	NM_000039.3(APOA1):c.80C>G (p.Pro27Arg)	APOA1, APOA1-AS (P27R)	Single nucleotide variant (missense variant +1 more)	APOLIPOPROTEIN A-I (MUNSTER3C)	GPathogenic
Select item 17924	NM_000039.3(APOA1):c.67C>T (p.Gln23Ter)	APOA1, APOA1-AS (Q23*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 17930	NM_000039.3(APOA1):c.43+1G>C	APOA1, APOA1-AS	Single nucleotide variant (splice donor variant)	Hypoalphalipoproteinemia, primary, 2	GPathogenic
Select item 7349	NM_000039.3(APOA1):c.43+1G>T	APOA1, APOA1-AS	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 50	GPathogenic