"Ambry Genetics"[submitter] AND "ABCG5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1942412	NM_016008.4(DYNC2LI1):c.1016G>A (p.Ser339Asn)	ABCG5, DYNC2LI1 (S340N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2304973	NM_016008.4(DYNC2LI1):c.1040T>A (p.Ile347Asn)	ABCG5, DYNC2LI1 (I347N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528889	NM_016008.4(DYNC2LI1):c.1042G>A (p.Glu348Lys)	ABCG5, DYNC2LI1 (E349K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1783259	NM_022436.3(ABCG5):c.1952G>A (p.Arg651Lys)	ABCG5, DYNC2LI1 (R651K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2534849	NM_022436.3(ABCG5):c.1945A>C (p.Ile649Leu)	ABCG5, DYNC2LI1 (I649L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2625955	NM_022436.3(ABCG5):c.1942C>T (p.Leu648Phe)	ABCG5, DYNC2LI1 (L648F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3311883	NM_022436.3(ABCG5):c.1933A>G (p.Arg645Gly)	ABCG5, DYNC2LI1 (R645G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3129828	NM_022436.3(ABCG5):c.1904T>G (p.Val635Gly)	ABCG5, DYNC2LI1 (V635G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1782202	NM_022436.3(ABCG5):c.1898C>G (p.Ala633Gly)	DYNC2LI1, ABCG5 (A633G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2449162	NM_022436.3(ABCG5):c.1891A>T (p.Ile631Phe)	ABCG5, DYNC2LI1 (I631F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2485807	NM_022436.3(ABCG5):c.1888T>A (p.Phe630Ile)	ABCG5, DYNC2LI1 (F630I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3309606	NM_022436.3(ABCG5):c.1875G>C (p.Leu625=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3129824	NM_022436.3(ABCG5):c.1874T>C (p.Leu625Pro)	ABCG5, DYNC2LI1 (L625P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1781718	NM_022436.3(ABCG5):c.1872T>C (p.Phe624=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
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 854673	NM_022436.3(ABCG5):c.1856G>C (p.Arg619Thr)	ABCG5, DYNC2LI1 (R619T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3311017	NM_022436.3(ABCG5):c.1853C>T (p.Ser618Phe)	ABCG5, DYNC2LI1 (S618F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3129818	NM_022436.3(ABCG5):c.1843G>T (p.Gly615Cys)	ABCG5, DYNC2LI1 (G615C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3310628	NM_022436.3(ABCG5):c.1840C>A (p.Pro614Thr)	ABCG5, DYNC2LI1 (P614T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2536270	NM_022436.3(ABCG5):c.1835C>A (p.Thr612Asn)	ABCG5, DYNC2LI1 (T612N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1780886	NM_022436.3(ABCG5):c.1828G>C (p.Glu610Gln)	ABCG5, DYNC2LI1 (E610Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1780856	NM_022436.3(ABCG5):c.1826T>C (p.Ile609Thr)	ABCG5, DYNC2LI1 (I609T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1780830	NM_022436.3(ABCG5):c.1825A>G (p.Ile609Val)	ABCG5, DYNC2LI1 (I609V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 593731	NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +4 more	GConflicting classifications of pathogenicity
Select item 3309794	NM_022436.3(ABCG5):c.1801G>A (p.Ala601Thr)	ABCG5, DYNC2LI1 (A601T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3309711	NM_022436.3(ABCG5):c.1798T>G (p.Cys600Gly)	ABCG5, DYNC2LI1 (C600G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1780208	NM_022436.3(ABCG5):c.1792C>A (p.Pro598Thr)	ABCG5, DYNC2LI1 (P598T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3227760	NM_022436.3(ABCG5):c.1771A>G (p.Asn591Asp)	ABCG5, DYNC2LI1 (N591D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2537289	NM_022436.3(ABCG5):c.1762+1G>A	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 2581611	NM_022436.3(ABCG5):c.1758T>C (p.Thr586=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 290953	NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)	ABCG5, DYNC2LI1 (G582R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +5 more	GConflicting classifications of pathogenicity
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 1778989	NM_022436.3(ABCG5):c.1731C>T (p.Val577=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1778887	NM_022436.3(ABCG5):c.1727T>C (p.Val576Ala)	ABCG5, DYNC2LI1 (V576A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1778748	NM_022436.3(ABCG5):c.1720A>T (p.Ile574Phe)	ABCG5, DYNC2LI1 (I574F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 598390	NM_022436.3(ABCG5):c.1707A>C (p.Lys569Asn)	ABCG5, DYNC2LI1 (K569N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2564002	NM_022436.3(ABCG5):c.1698A>G (p.Thr566=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2625952	NM_022436.3(ABCG5):c.1690T>C (p.Tyr564His)	ABCG5, DYNC2LI1 (Y564H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1778088	NM_022436.3(ABCG5):c.1689T>C (p.Ser563=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1778006	NM_022436.3(ABCG5):c.1686C>A (p.Ile562=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1777722	NM_022436.3(ABCG5):c.1672C>G (p.Pro558Ala)	ABCG5, DYNC2LI1 (P558A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1777610	NM_022436.3(ABCG5):c.1668C>T (p.Pro556=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1777587	NM_022436.3(ABCG5):c.1667C>T (p.Pro556Leu)	ABCG5, DYNC2LI1 (P556L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3129781	NM_022436.3(ABCG5):c.1655T>C (p.Ile552Thr)	ABCG5, DYNC2LI1 (I552T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1777311	NM_022436.3(ABCG5):c.1654A>C (p.Ile552Leu)	ABCG5, DYNC2LI1 (I552L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2449157	NM_022436.3(ABCG5):c.1644C>T (p.Phe548=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1776908	NM_022436.3(ABCG5):c.1635A>G (p.Gly545=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1776743	NM_022436.3(ABCG5):c.1628T>C (p.Leu543Pro)	ABCG5, DYNC2LI1 (L543P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2624493	NM_022436.3(ABCG5):c.1624G>C (p.Val542Leu)	ABCG5, DYNC2LI1 (V542L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2564011	NM_022436.3(ABCG5):c.1620G>T (p.Ala540=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 950594	NM_022436.3(ABCG5):c.1620G>A (p.Ala540=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +1 more	GLikely benign
Select item 3311782	NM_022436.3(ABCG5):c.1619C>T (p.Ala540Val)	ABCG5, DYNC2LI1 (A540V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1776499	NM_022436.3(ABCG5):c.1616T>C (p.Ile539Thr)	ABCG5, DYNC2LI1 (I539T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1776270	NM_022436.3(ABCG5):c.1605T>A (p.Ala535=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1776225	NM_022436.3(ABCG5):c.1603G>A (p.Ala535Thr)	ABCG5, DYNC2LI1 (A535T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 497801	NM_022436.3(ABCG5):c.1602G>C (p.Val534=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1776017	NM_022436.3(ABCG5):c.1596T>A (p.Ser532Arg)	ABCG5, DYNC2LI1 (S532R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1939772	NM_022436.3(ABCG5):c.1593C>A (p.Asn531Lys)	ABCG5, DYNC2LI1 (N531K)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2690815	NM_022436.3(ABCG5):c.1586T>C (p.Ile529Thr)	ABCG5, DYNC2LI1 (I529T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1775780	NM_022436.3(ABCG5):c.1584T>C (p.Asn528=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1775435	NM_022436.3(ABCG5):c.1569C>G (p.Ile523Met)	ABCG5, DYNC2LI1 (I523M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1775431	NM_022436.3(ABCG5):c.1569C>A (p.Ile523=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 336037	NM_022436.3(ABCG5):c.1569C>T (p.Ile523=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +2 more	GConflicting classifications of pathogenicity
Select item 502765	NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)	ABCG5, DYNC2LI1 (I523V)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +4 more	GConflicting classifications of pathogenicity
Select item 1775246	NM_022436.3(ABCG5):c.1560A>G (p.Leu520=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 779657	NM_022436.3(ABCG5):c.1550C>G (p.Thr517Ser)	ABCG5, DYNC2LI1 (T517S)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +4 more	GBenign/Likely benign
Select item 1774986	NM_022436.3(ABCG5):c.1549A>C (p.Thr517Pro)	ABCG5, DYNC2LI1 (T517P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 844391	NM_022436.3(ABCG5):c.1537G>C (p.Gly513Arg)	ABCG5, DYNC2LI1 (G513R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 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 1774494	NM_022436.3(ABCG5):c.1524C>T (p.Ala508=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3227759	NM_022436.3(ABCG5):c.1523C>T (p.Ala508Val)	ABCG5, DYNC2LI1 (A508V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1774461	NM_022436.3(ABCG5):c.1522G>A (p.Ala508Thr)	ABCG5, DYNC2LI1 (A508T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1774278	NM_022436.3(ABCG5):c.1514C>A (p.Ala505Asp)	ABCG5, DYNC2LI1 (A505D)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2497234	NM_022436.3(ABCG5):c.1501T>C (p.Tyr501His)	ABCG5, DYNC2LI1 (Y501H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3129747	NM_022436.3(ABCG5):c.1492C>G (p.Arg498Gly)	ABCG5, DYNC2LI1 (R498G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1773384	NM_022436.3(ABCG5):c.1472G>A (p.Gly491Asp)	ABCG5, DYNC2LI1 (G491D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3311118	NM_022436.3(ABCG5):c.1461C>T (p.Tyr487=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2068768	NM_022436.3(ABCG5):c.1452T>G (p.Ser484Arg)	ABCG5, DYNC2LI1 (S484R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 3309405	NM_022436.3(ABCG5):c.1451G>C (p.Ser484Thr)	ABCG5, DYNC2LI1 (S484T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1772548	NM_022436.3(ABCG5):c.1433C>A (p.Ala478Asp)	ABCG5, DYNC2LI1 (A478D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3310530	NM_022436.3(ABCG5):c.1426G>A (p.Val476Ile)	ABCG5, DYNC2LI1 (V476I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1772351	NM_022436.3(ABCG5):c.1425C>T (p.Ser475=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +1 more	GLikely benign
Select item 1551118	NM_022436.3(ABCG5):c.1419C>A (p.Pro473=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +1 more	GLikely benign
Select item 3227757	NM_022436.3(ABCG5):c.1413C>A (p.Val471=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 529882	NM_022436.3(ABCG5):c.1410C>T (p.His470=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +1 more	GLikely benign
Select item 500862	NM_022436.3(ABCG5):c.1398C>T (p.Ala466=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 726803	NM_022436.3(ABCG5):c.1366G>A (p.Gly456Ser)	ABCG5, DYNC2LI1 (G456S)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GConflicting classifications of pathogenicity
Select item 2146331	NM_022436.3(ABCG5):c.1365C>A (p.Asp455Glu)	ABCG5, DYNC2LI1 (D455E)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
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 2487141	NM_022436.3(ABCG5):c.1360C>A (p.Gln454Lys)	ABCG5, DYNC2LI1 (Q454K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 597367	NM_022436.3(ABCG5):c.1354G>C (p.Glu452Gln)	ABCG5, DYNC2LI1 (E452Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1004734	NM_022436.3(ABCG5):c.1348G>A (p.Asp450Asn)	ABCG5, DYNC2LI1 (D450N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 501086	NM_022436.3(ABCG5):c.1347C>T (p.Ser449=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 843950	NM_022436.3(ABCG5):c.1337G>A (p.Arg446Gln)	ABCG5, DYNC2LI1 (R446Q)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +2 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 2449156	NM_022436.3(ABCG5):c.1333C>G (p.Leu445Val)	ABCG5, DYNC2LI1 (L445V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1770182	NM_022436.3(ABCG5):c.1332G>C (p.Val444=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1770078	NM_022436.3(ABCG5):c.1329C>T (p.Pro443=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +2 more	GLikely benign
Select item 3227756	NM_022436.3(ABCG5):c.1327C>T (p.Pro443Ser)	ABCG5, DYNC2LI1 (P443S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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