ClinVar for MedGen (Select 328375) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362701	NM_000483.5(APOC2):c.216-1G>A	APOC2, APOC4-APOC2	Single nucleotide variant (splice acceptor variant)	Familial apolipoprotein C-II deficiency	GPathogenic
Select item 3064990	NM_000483.5(APOC2):c.55G>T (p.Glu19Ter)	APOC2, APOC4-APOC2 (E19*)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 2502228	NM_000483.5(APOC2):c.-14+8A>G	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 1685529	NM_000483.5(APOC2):c.274C>T (p.Gln92Ter)	APOC2, APOC4-APOC2 (Q92*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 1374052	NM_000483.5(APOC2):c.10C>T (p.Arg4Ter)	APOC2, APOC4-APOC2 (R4*)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1284889	NM_000483.5(APOC2):c.118del (p.Gln39_Val40insTer)	APOC2, APOC4-APOC2	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 894638	NM_000483.5(APOC2):c.*77C>A	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 894637	NM_000483.5(APOC2):c.195C>A (p.Pro65=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency +2 more	GConflicting classifications of pathogenicity
Select item 894242	NM_000483.5(APOC2):c.85G>A (p.Asp29Asn)	APOC2, APOC4-APOC2 (D29N)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency +1 more	GConflicting classifications of pathogenicity
Select item 894241	NM_000483.5(APOC2):c.56-11T>C	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	Familial apolipoprotein C-II deficiency +1 more	GConflicting classifications of pathogenicity
Select item 894240	NM_000483.5(APOC2):c.-18G>A	APOC4-APOC2, APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 894239	NM_000483.5(APOC2):c.-38G>C	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 782056	NM_000483.5(APOC2):c.56-4G>C	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	Familial apolipoprotein C-II deficiency +2 more	GBenign
Select item 634436	NM_000483.5(APOC2):c.189C>A (p.Tyr63Ter)	APOC4-APOC2, APOC2 (Y63*)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GPathogenic
Select item 329464	NM_000483.5(APOC2):c.*308dup	APOC2, APOC4-APOC2	Duplication (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 329463	NM_000483.5(APOC2):c.*306C>T	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency +1 more	GBenign
Select item 329462	NM_000483.5(APOC2):c.*236C>T	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GLikely benign
Select item 329461	NM_000483.5(APOC2):c.*203G>A	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 329460	NM_000483.5(APOC2):c.188_189insT	APOC2, APOC4-APOC2	Insertion (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 329459	NM_000483.5(APOC2):c.*174T>C	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 329458	NM_000483.5(APOC2):c.*116T>C	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GLikely benign
Select item 329457	NM_000483.5(APOC2):c.*90C>T	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency +1 more	GBenign/Likely benign
Select item 329456	NM_000483.5(APOC2):c.*24C>T	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 329455	NM_000483.5(APOC2):c.301G>A (p.Glu101Lys)	APOC2, APOC4-APOC2 (E101K)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 329454	NM_000483.5(APOC2):c.102G>A (p.Pro34=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 329453	NM_000483.5(APOC2):c.-2C>T	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 329452	NM_000483.4(APOC2):c.-45C>T	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 329451	NM_000483.4(APOC2):c.-62T>G	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant)	Familial apolipoprotein C-II deficiency +1 more	GBenign
Select item 2584	NM_000483.5(APOC2):c.255C>A (p.Tyr85Ter)	APOC2, APOC4-APOC2 (Y85*)	Single nucleotide variant (non-coding transcript variant +1 more)	APOLIPOPROTEIN C-II (AUCKLAND) +1 more	GPathogenic
Select item 2583	NM_000483.5(APOC2):c.142T>C (p.Trp48Arg)	APOC2, APOC4-APOC2 (W48R)	Single nucleotide variant (non-coding transcript variant +1 more)	APOLIPOPROTEIN C-II (WAKAYAMA) +1 more	GPathogenic
Select item 2582	NM_000483.5(APOC2):c.178G>A (p.Glu60Lys)	APOC2, APOC4-APOC2 (E60K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 2581	NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)	APOC2, APOC4-APOC2 (K41T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2580	NM_000483.5(APOC2):c.177C>G (p.Tyr59Ter)	APOC4-APOC2, APOC2 (Y59*)	Single nucleotide variant (non-coding transcript variant +1 more)	APOLIPOPROTEIN C-II (BARI) +1 more	GPathogenic
Select item 2579	NM_000483.5(APOC2):c.1A>G (p.Met1Val)	APOC2, APOC4-APOC2 (M1V)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial apolipoprotein C-II deficiency +1 more	GPathogenic
Select item 2577	NM_000483.5(APOC2):c.55+1G>C	APOC2, APOC4-APOC2	Single nucleotide variant (splice donor variant)	Familial apolipoprotein C-II deficiency +1 more	GPathogenic
Select item 2576	NM_000483.5(APOC2):c.270del (p.Asp91fs)	APOC2, APOC4-APOC2 (D91fs)	Deletion (frameshift variant +1 more)	APOLIPOPROTEIN C-II (TORONTO) +1 more	GPathogenic
Select item 2575	NM_000483.5(APOC2):c.274dup (p.Gln92fs)	APOC2, APOC4-APOC2 (Q92fs)	Duplication (non-coding transcript variant +1 more)	APOLIPOPROTEIN C-II (ST. MICHAEL) +1 more	GPathogenic
Select item 2574	NM_000483.5(APOC2):c.177C>A (p.Tyr59Ter)	APOC4-APOC2, APOC2 (Y59*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2573	NM_000483.5(APOC2):c.229A>C (p.Lys77Gln)	APOC2, APOC4-APOC2 (K77Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GBenign/Likely benign

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Items: 39