APOA2[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690543	NM_001643.2(APOA2):c.301T>A (p.Ter101Arg)	APOA2	Single nucleotide variant (stop lost)	not provided	GLikely pathogenic
Select item 2285375	NM_001643.2(APOA2):c.296C>T (p.Thr99Ile)	APOA2 (T99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929173	NM_001643.2(APOA2):c.293C>A (p.Ala98Asp)	APOA2 (A98D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 496142	NM_001643.2(APOA2):c.288G>A (p.Gln96=)	APOA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2273089	NM_001643.2(APOA2):c.248T>A (p.Leu83Gln)	APOA2 (L83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 632643	NM_001643.2(APOA2):c.247C>T (p.Leu83=)	APOA2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 293291	NM_001643.2(APOA2):c.243G>A (p.Thr81=)	APOA2	Single nucleotide variant (synonymous variant)	Apolipoprotein A-II deficiency	GUncertain significance
Select item 876338	NM_001643.2(APOA2):c.229A>C (p.Lys77Gln)	APOA2 (K77Q)	Single nucleotide variant (missense variant)	Apolipoprotein A-II deficiency +1 more	GUncertain significance
Select item 293292	NM_001643.2(APOA2):c.186-4C>T	APOA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 992213	NM_001643.2(APOA2):c.186-19A>C	APOA2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 17935	NM_001643.2(APOA2):c.185+1G>A	APOA2	Single nucleotide variant (splice donor variant)	APOLIPOPROTEIN A-II DEFICIENCY, FAMILIAL, DUE TO APOA-II (HIROSHIMA)	GPathogenic
Select item 3306920	NM_001643.2(APOA2):c.173A>G (p.Gln58Arg)	APOA2 (Q58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127888	NM_001643.2(APOA2):c.121G>T (p.Val41Leu)	APOA2 (V41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 874371	NM_001643.2(APOA2):c.121G>A (p.Val41Met)	APOA2 (V41M)	Single nucleotide variant (missense variant)	Apolipoprotein A-II deficiency +1 more	GUncertain significance
Select item 1339710	NM_001643.2(APOA2):c.53-11_53-4del	APOA2	Deletion (intron variant)	not specified	GBenign
Select item 1337962	NM_001643.2(APOA2):c.53-43TG[22]	APOA2	Microsatellite (intron variant)	not specified	GBenign
Select item 774279	NM_001643.2(APOA2):c.53-43TG[20]	APOA2	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 293293	NM_001643.2(APOA2):c.53-43TG[21]	APOA2	Microsatellite (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3046168	NM_001643.2(APOA2):c.53-43TG[11]	APOA2	Microsatellite (intron variant)	APOA2-related disorder	GLikely benign
Select item 933213	NM_001643.2(APOA2):c.53-43TG[18]	APOA2	Microsatellite (intron variant)	not specified	GBenign
Select item 929172	NM_001643.2(APOA2):c.53-43TG[14]	APOA2	Microsatellite (intron variant)	not specified	GBenign
Select item 928702	NM_001643.2(APOA2):c.53-43TG[15]	APOA2	Microsatellite (intron variant)	not specified	GBenign
Select item 928640	NM_001643.2(APOA2):c.53-43TG[13]	APOA2	Microsatellite (intron variant)	not specified	GBenign
Select item 293295	NM_001643.2(APOA2):c.53-43TG[16]	APOA2	Microsatellite (intron variant)	Apolipoprotein A-II deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293294	NM_001643.2(APOA2):c.53-43TG[17]	APOA2	Microsatellite (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 806259	NM_001643.2(APOA2):c.52+3G>A	APOA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 293296	NM_001643.2(APOA2):c.-21G>A	APOA2	Single nucleotide variant (5 prime UTR variant)	Apolipoprotein A-II deficiency	GUncertain significance
Select item 293297	NM_001643.2(APOA2):c.-47C>T	APOA2	Single nucleotide variant (5 prime UTR variant)	Apolipoprotein A-II deficiency	GUncertain significance
Select item 17936	NC_000001.11:g.161223893G>A	APOA2	Single nucleotide variant	Hypercholesterolemia, familial, 1	GPathogenic

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Items: 29