ClinVar for MedGen (Select 356830) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663803	NM_024071.4(ZFYVE21):c.604_607dup (p.Val203fs)	ZFYVE21 (V203fs +1 more)	Duplication (frameshift variant)	Premature coronary artery atherosclerosis	GUncertain significance
Select item 2663802	NM_005447.4(RASSF9):c.893_894del (p.Ile298fs)	RASSF9 (I298fs)	Microsatellite (frameshift variant)	Premature coronary artery atherosclerosis	GUncertain significance
Select item 2663801	NM_001288772.2(PIK3C2G):c.3480+1G>T	PIK3C2G	Single nucleotide variant (splice donor variant)	Premature coronary artery atherosclerosis	GUncertain significance
Select item 2663800	NM_001001548.3(CD36):c.1187C>G (p.Ser396Ter)	CD36 (S241* +5 more)	Single nucleotide variant (nonsense +1 more)	Premature coronary artery atherosclerosis	GUncertain significance
Select item 2663799	NM_022437.3(ABCG8):c.562G>C (p.Val188Leu)	ABCG8 (V188L)	Single nucleotide variant (missense variant)	Premature coronary artery atherosclerosis	GUncertain significance
Select item 1518043	NM_000784.4(CYP27A1):c.332C>G (p.Ala111Gly)	CYP27A1 (A111G)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GUncertain significance
Select item 921410	NM_001035.3(RYR2):c.5189C>T (p.Thr1730Met)	RYR2 (T1730M)	Single nucleotide variant (missense variant)	Premature coronary artery atherosclerosis +1 more	GUncertain significance
Select item 180693	NM_003005.4(SELP):c.775+1G>A	SELP	Single nucleotide variant (splice donor variant)	Premature coronary artery atherosclerosis	GLikely pathogenic