"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577149	NM_022436.3(ABCG5):c.1910T>C (p.Leu637Pro)	ABCG5, DYNC2LI1 (L637P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 336036	NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu)	ABCG5, DYNC2LI1 (Q604E)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1 +4 more	GBenign/Likely benign
Select item 593731	NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 2581611	NM_022436.3(ABCG5):c.1758T>C (p.Thr586=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2581508	NM_022436.3(ABCG5):c.1670T>C (p.Ile557Thr)	ABCG5, DYNC2LI1 (I557T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2691434	NM_022436.3(ABCG5):c.1452T>C (p.Ser484=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2581535	NM_022436.3(ABCG5):c.1356G>C (p.Glu452Asp)	ABCG5, DYNC2LI1 (E452D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1770078	NM_022436.3(ABCG5):c.1329C>T (p.Pro443=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 199164	NM_022436.3(ABCG5):c.1284C>T (p.Gly428=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 597032	NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe)	ABCG5, DYNC2LI1 (L391F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 289742	NM_022436.3(ABCG5):c.957C>T (p.Ser319=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 336045	NM_022436.3(ABCG5):c.905-3dup	ABCG5, DYNC2LI1	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 500961	NM_022436.3(ABCG5):c.897C>T (p.Asp299=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 336047	NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr)	ABCG5, DYNC2LI1 (F268Y)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 336049	NM_022436.3(ABCG5):c.775-10G>T	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia 1 +3 more	GBenign/Likely benign
Select item 283812	NM_022436.3(ABCG5):c.696C>T (p.Val232=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 596105	NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala)	ABCG5, DYNC2LI1 (T220A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 2581537	NM_022436.3(ABCG5):c.619C>G (p.Leu207Val)	ABCG5, DYNC2LI1 (L207V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance