64240[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 147991	GRCh38/hg38 2p21(chr2:43676810-45016061)x3	ABCG5, ABCG8 +34 more	Copy number gain	See cases	GUncertain significance
Select item 146326	GRCh38/hg38 2p21(chr2:43762375-44960289)x3	ABCG5, ABCG8 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1233764	NM_016008.4(DYNC2LI1):c.994-155A>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245873	NM_016008.4(DYNC2LI1):c.994-44A>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1911216	NM_016008.4(DYNC2LI1):c.994-19A>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796039	NM_016008.4(DYNC2LI1):c.994-17A>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793903	NM_016008.4(DYNC2LI1):c.994-15A>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 212767	NM_016008.4(DYNC2LI1):c.1000G>T (p.Glu334Ter)	ABCG5, DYNC2LI1 (E334* +1 more)	Single nucleotide variant (nonsense +1 more)	Asphyxiating thoracic dystrophy 1 +1 more	GPathogenic
Select item 1942412	NM_016008.4(DYNC2LI1):c.1016G>A (p.Ser339Asn)	ABCG5, DYNC2LI1 (S340N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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 1611547	NM_016008.4(DYNC2LI1):c.1041C>A (p.Ile347=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 777768	NM_016008.4(DYNC2LI1):c.1042G>C (p.Glu348Gln)	ABCG5, DYNC2LI1 (E349Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1229640	NM_016008.4(DYNC2LI1):c.*7T>C	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1277321	NM_016008.4(DYNC2LI1):c.*16T>C	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1234841	NM_016008.4(DYNC2LI1):c.*141T>G	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3035780	NM_001348913.2(DYNC2LI1):c.997G>C (p.Ala333Pro)	DYNC2LI1, ABCG5 (A332P +1 more)	Single nucleotide variant (missense variant)	DYNC2LI1-related condition	GBenign
Select item 336024	NM_022436.3(ABCG5):c.*622C>T	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1	GBenign
Select item 336025	NM_022436.3(ABCG5):c.*621C>T	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1	GUncertain significance
Select item 336026	NM_022436.3(ABCG5):c.*592G>A	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1	GUncertain significance
Select item 894906	NM_022436.3(ABCG5):c.*535C>T	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1	GBenign
Select item 336027	NM_022436.3(ABCG5):c.*522G>A	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1	GBenign
Select item 336028	NM_022436.3(ABCG5):c.*511C>A	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1	GUncertain significance
Select item 336029	NM_022436.3(ABCG5):c.*416G>A	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1	GBenign
Select item 336030	NM_022436.3(ABCG5):c.*399C>T	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1	GBenign
Select item 336031	NM_022436.3(ABCG5):c.*380T>G	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1 +1 more	GBenign
Select item 336032	NM_022436.3(ABCG5):c.*357dup	ABCG5, DYNC2LI1	Duplication (3 prime UTR variant +1 more)	Sitosterolemia	GUncertain significance
Select item 896342	NM_022436.3(ABCG5):c.*352T>C	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1	GUncertain significance
Select item 336033	NM_022436.3(ABCG5):c.*285G>C	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 896343	NM_022436.3(ABCG5):c.*225G>T	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1	GUncertain significance
Select item 896344	NM_022436.3(ABCG5):c.*153C>A	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1	GUncertain significance
Select item 1187884	NM_022436.3(ABCG5):c.*72G>A	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 597409	NM_022436.3(ABCG5):c.1950C>T (p.Ser650=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2534849	NM_022436.3(ABCG5):c.1945A>C (p.Ile649Leu)	ABCG5, DYNC2LI1 (I649L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2969942	NM_022436.3(ABCG5):c.1913G>A (p.Gly638Glu)	ABCG5, DYNC2LI1 (G638E)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
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 896345	NM_022436.3(ABCG5):c.1904T>C (p.Val635Ala)	ABCG5, DYNC2LI1 (V635A)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1	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 1684420	NM_022436.3(ABCG5):c.1890del (p.Phe630fs)	ABCG5, DYNC2LI1 (F630fs)	Deletion (frameshift variant +1 more)	Sitosterolemia 2 +2 more	GConflicting classifications of pathogenicity
Select item 2485807	NM_022436.3(ABCG5):c.1888T>A (p.Phe630Ile)	ABCG5, DYNC2LI1 (F630I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2199424	NM_022436.3(ABCG5):c.1886C>G (p.Ser629Ter)	ABCG5, DYNC2LI1 (S629*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia	GPathogenic
Select item 1145752	NM_022436.3(ABCG5):c.1878T>C (p.Ile626=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 336034	NM_022436.3(ABCG5):c.1873C>G (p.Leu625Val)	ABCG5, DYNC2LI1 (L625V)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1	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 594348	NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu)	ABCG5, DYNC2LI1 (F624L)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	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 854673	NM_022436.3(ABCG5):c.1856G>C (p.Arg619Thr)	ABCG5, DYNC2LI1 (R619T)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +2 more	GUncertain significance
Select item 336035	NM_022436.3(ABCG5):c.1850C>G (p.Thr617Arg)	ABCG5, DYNC2LI1 (T617R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1	GUncertain significance
Select item 642703	NM_022436.3(ABCG5):c.1838G>A (p.Cys613Tyr)	ABCG5, DYNC2LI1 (C613Y)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2536270	NM_022436.3(ABCG5):c.1835C>A (p.Thr612Asn)	ABCG5, DYNC2LI1 (T612N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1780886	NM_022436.3(ABCG5):c.1828G>C (p.Glu610Gln)	DYNC2LI1, ABCG5 (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)	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 2502210	NM_022436.3(ABCG5):c.1799G>A (p.Cys600Tyr)	ABCG5, DYNC2LI1 (C600Y)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 1780208	NM_022436.3(ABCG5):c.1792C>A (p.Pro598Thr)	ABCG5, DYNC2LI1 (P598T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2987013	NM_022436.3(ABCG5):c.1776T>G (p.Val592=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 1446253	NM_022436.3(ABCG5):c.1775T>C (p.Val592Ala)	ABCG5, DYNC2LI1 (V592A)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 597982	NM_022436.3(ABCG5):c.1770A>C (p.Ser590=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 897961	NM_022436.3(ABCG5):c.1768T>C (p.Ser590Pro)	ABCG5, DYNC2LI1 (S590P)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1	GUncertain significance
Select item 2722141	NM_022436.3(ABCG5):c.1763-1G>A	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant +1 more)	Sitosterolemia	GPathogenic
Select item 194263	NM_022436.3(ABCG5):c.1763-7T>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2887181	NM_022436.3(ABCG5):c.1763-16A>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2857888	NM_022436.3(ABCG5):c.1763-18C>T	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 1285846	NM_022436.3(ABCG5):c.1763-114C>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279089	NM_022436.3(ABCG5):c.1763-210T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241995	NM_022436.3(ABCG5):c.1762+337G>A	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2739573	NM_022436.3(ABCG5):c.1762+15T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 1901242	NM_022436.3(ABCG5):c.1762+14T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2910094	NM_022436.3(ABCG5):c.1762+11T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2537289	NM_022436.3(ABCG5):c.1762+1G>A	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GPathogenic
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 290953	NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)	ABCG5, DYNC2LI1 (G582R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +4 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)	not provided +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)	DYNC2LI1, ABCG5 (I574F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 595767	NM_022436.3(ABCG5):c.1711T>C (p.Cys571Arg)	ABCG5, DYNC2LI1 (C571R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 598390	NM_022436.3(ABCG5):c.1707A>C (p.Lys569Asn)	ABCG5, DYNC2LI1 (K569N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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 598636	NM_022436.3(ABCG5):c.1682TCA[3] (p.Ile562_Ser563insIle)	DYNC2LI1, ABCG5	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
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 2111434	NM_022436.3(ABCG5):c.1681dup (p.Ile561fs)	DYNC2LI1, ABCG5 (I561fs)	Duplication (frameshift variant +1 more)	Sitosterolemia	GPathogenic
Select item 1777722	NM_022436.3(ABCG5):c.1672C>G (p.Pro558Ala)	ABCG5, DYNC2LI1 (P558A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
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 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 1907244	NM_022436.3(ABCG5):c.1657C>T (p.Gln553Ter)	DYNC2LI1, ABCG5 (Q553*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia	GPathogenic
Select item 1777311	NM_022436.3(ABCG5):c.1654A>C (p.Ile552Leu)	DYNC2LI1, ABCG5 (I552L)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2832974	NM_022436.3(ABCG5):c.1650-14T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign

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