"Genetic Services Laboratory, University of Chicago"[submitter] AND "A - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193451	NM_022437.3(ABCG8):c.51C>A (p.Pro17=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 500866	NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)	ABCG8 (D33N)	Single nucleotide variant (missense variant)	ABCG8-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1338005	NM_022437.3(ABCG8):c.456C>T (p.Arg152=)	ABCG8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 784634	NM_022437.3(ABCG8):c.1365C>T (p.Ile455=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 595020	NM_022437.3(ABCG8):c.1473A>G (p.Pro491=)	ABCG8	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 193736	NM_022437.3(ABCG8):c.1486A>G (p.Lys496Glu)	ABCG8 (K496E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 336083	NM_022437.3(ABCG8):c.1506G>A (p.Pro502=)	ABCG8	Single nucleotide variant (synonymous variant)	Gallbladder disease 4 +4 more	GBenign/Likely benign
Select item 791737	NM_022437.3(ABCG8):c.1716C>T (p.Leu572=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 336090	NM_022437.3(ABCG8):c.1782C>T (p.Ser594=)	ABCG8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 595310	NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 779658	NM_022437.3(ABCG8):c.1963A>G (p.Met655Val)	ABCG8 (M654V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign