"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ABCG5"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 594348	NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu)	ABCG5, DYNC2LI1 (F624L)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +4 more	GUncertain significance
Select item 194262	NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)	ABCG5, DYNC2LI1 (M622V)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +5 more	GBenign/Likely benign
Select item 500473	NM_022436.3(ABCG5):c.1733A>G (p.Asn578Ser)	ABCG5, DYNC2LI1 (N578S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 595462	NM_022436.3(ABCG5):c.1528C>A (p.His510Asn)	ABCG5, DYNC2LI1 (H510N)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +4 more	GConflicting classifications of pathogenicity
Select item 30485	NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)	ABCG5, DYNC2LI1 (R446*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia +5 more	GPathogenic/Likely pathogenic
Select item 1693810	NM_022436.3(ABCG5):c.1183A>G (p.Ile395Val)	ABCG5, DYNC2LI1 (I395V)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +2 more	GUncertain significance
Select item 597032	NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe)	ABCG5, DYNC2LI1 (L391F)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +4 more	GUncertain significance
Select item 498674	NM_022436.3(ABCG5):c.598C>G (p.Arg200Gly)	ABCG5, DYNC2LI1 (R200G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 197336	NM_022436.3(ABCG5):c.431T>C (p.Val144Ala)	ABCG5 (V144A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 593676	NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)	ABCG5 (F109L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 598521	NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg)	ABCG5 (G79R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 4975	NM_022437.3(ABCG8):c.55G>C (p.Asp19His)	ABCG5, ABCG8 (D19H)	Single nucleotide variant (genic upstream transcript variant +1 more)	Sitosterolemia 1 +5 more	GBenign/Likely benign; association