"Clinical Genetics, Academic Medical Center"[submitter] AND "DYNC2LI1" - ClinVar - NCBI

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Items: 13

	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 provided +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)	not specified +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)	Sitosterolemia +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)	not provided +3 more	GUncertain significance
Select item 502765	NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)	ABCG5, DYNC2LI1 (I523V)	Single nucleotide variant (missense variant +1 more)	ABCG5-related condition +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)	Sitosterolemia 1 +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)	not provided +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 specified +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 +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)	Sitosterolemia +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)	Sitosterolemia +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)	not specified +5 more	GConflicting classifications of pathogenicity