"Clinical Genetics, Academic Medical Center"[submitter] AND "ABCG5"[ge - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194262	NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)	ABCG5, DYNC2LI1 (M622V)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 336036	NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu)	ABCG5, DYNC2LI1 (Q604E)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +4 more	GBenign/Likely benign
Select item 290953	NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)	ABCG5, DYNC2LI1 (G582R)	Single nucleotide variant (missense variant +1 more)	ABCG5-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 284757	NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile)	ABCG5, DYNC2LI1 (V524I)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +3 more	GUncertain significance
Select item 502765	NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)	DYNC2LI1, ABCG5 (I523V)	Single nucleotide variant (missense variant +1 more)	ABCG5-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 336039	NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 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 1 +5 more	GPathogenic/Likely pathogenic
Select item 497594	NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
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 289742	NM_022436.3(ABCG5):c.957C>T (p.Ser319=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1328058	NM_022436.3(ABCG5):c.774+1G>T	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 283812	NM_022436.3(ABCG5):c.696C>T (p.Val232=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 284636	NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)	ABCG5, DYNC2LI1 (R198Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 283529	NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)	ABCG5 (G27A)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 336057	NM_022436.3(ABCG5):c.27C>T (p.Pro9=)	ABCG5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 193450	NM_022437.3(ABCG8):c.-19T>G	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia 1 +3 more	GBenign
Select item 1299903	NM_022437.3(ABCG8):c.29G>C (p.Gly10Ala)	ABCG5, ABCG8 (G10A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 4975	NM_022437.3(ABCG8):c.55G>C (p.Asp19His)	ABCG5, ABCG8 (D19H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign; association