"ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684420	NM_022436.3(ABCG5):c.1890del (p.Phe630fs)	ABCG5, DYNC2LI1 (F630fs)	Deletion (frameshift variant +1 more)	Sitosterolemia 2 +2 more	GConflicting classifications of pathogenicity
Select item 194262	NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)	ABCG5, DYNC2LI1 (M622V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 4976	NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter)	ABCG5, DYNC2LI1 (R408*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia 2 +1 more	GPathogenic/Likely pathogenic
Select item 1046346	NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg)	ABCG5, DYNC2LI1 (T305R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	GPathogenic/Likely pathogenic
Select item 1703837	NM_022436.3(ABCG5):c.728G>T (p.Arg243Leu)	DYNC2LI1, ABCG5 (R243L)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2	GUncertain significance
Select item 817282	NM_022436.3(ABCG5):c.575del (p.Gly192fs)	ABCG5, DYNC2LI1 (G192fs)	Deletion (3 prime UTR variant +1 more)	Sitosterolemia +2 more	GPathogenic/Likely pathogenic

ClinVar