ClinVar for MedGen (Select 1787149) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066069	NM_001371904.1(APOA5):c.681C>A (p.Cys227Ter)	APOA5, ZPR1 (C227*)	Single nucleotide variant (nonsense)	Hypertriglyceridemia 1	GLikely pathogenic
Select item 2137252	NM_001371904.1(APOA5):c.644C>T (p.Pro215Leu)	APOA5 (P215L)	Single nucleotide variant (missense variant)	Hypertriglyceridemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 1803845	NM_001371904.1(APOA5):c.1081A>C (p.Ser361Arg)	APOA5 (S361R)	Single nucleotide variant (missense variant)	Familial type 5 hyperlipoproteinemia +1 more	GUncertain significance
Select item 1204530	NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter)	APOA5 (Q275*)	Single nucleotide variant (nonsense)	Hypertriglyceridemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 1120263	NM_032607.3(CREB3L3):c.[732dup;739A>T]	CREB3L3 (K243fs +5 more)	Duplication (frameshift variant +2 more)	Hypertriglyceridemia 2	Grisk factor
Select item 979022	NM_032607.3(CREB3L3):c.732dup (p.Lys245fs)	CREB3L3 (K243fs +2 more)	Duplication (frameshift variant +1 more)	Hypertriglyceridemia 2 +1 more	GConflicting classifications of pathogenicity
Select item 978324	NM_001371904.1(APOA5):c.990_993del (p.Asp332fs)	APOA5 (D332fs)	Microsatellite (frameshift variant)	Hypertriglyceridemia 1 +3 more	GPathogenic/Likely pathogenic
Select item 917849	NM_032607.3(CREB3L3):c.718G>A (p.Glu240Lys)	CREB3L3 (E238K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 381733	NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter)	APOA5 (Q97*)	Single nucleotide variant (nonsense)	Hypertriglyceridemia +4 more	GPathogenic
Select item 127141	NM_001371904.1(APOA5):c.*158C>T	APOA5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 5969	NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr)	RP1 (N985Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 4403	NM_001371904.1(APOA5):c.56C>G (p.Ser19Trp)	APOA5, LOC108491825 (S19W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 4402	NM_001371904.1(APOA5):c.553G>T (p.Gly185Cys)	APOA5 (G185C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1822	NM_001302998.2(LIPI):c.164G>A (p.Cys55Tyr)	LIPI (C55Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign