ClinVar for MedGen (Select 440869) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066456	NM_022437.3(ABCG8):c.1475A>G (p.Tyr492Cys)	ABCG8 (Y491C +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 2690824	NM_022437.3(ABCG8):c.398G>C (p.Trp133Ser)	ABCG8 (W133S)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 2690823	NM_022437.3(ABCG8):c.406G>T (p.Gly136Trp)	ABCG8 (G136W)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 2690822	NM_022437.3(ABCG8):c.1153T>G (p.Cys385Gly)	ABCG8 (C384G +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 2690821	NM_022437.3(ABCG8):c.1270G>T (p.Ala424Ser)	ABCG8 (A423S +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 2690820	NM_022437.3(ABCG8):c.1199C>T (p.Thr400Met)	ABCG8 (T399M +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 2690819	NM_022437.3(ABCG8):c.1375A>G (p.Ile459Val)	ABCG8 (I458V +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 2585399	NM_022437.3(ABCG8):c.404A>T (p.Asn135Ile)	ABCG8 (N135I)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 2502269	NM_022437.3(ABCG8):c.818G>A (p.Arg273His)	ABCG8 (R273H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2439032	NM_022437.3(ABCG8):c.1756+2T>A	ABCG8	Single nucleotide variant (splice donor variant)	Sitosterolemia 1	GPathogenic
Select item 2438989	NM_022437.3(ABCG8):c.641del (p.Ser214fs)	ABCG8 (S214fs)	Deletion (frameshift variant)	Sitosterolemia 1	GLikely pathogenic
Select item 2438789	NM_022437.3(ABCG8):c.1898T>C (p.Met633Thr)	ABCG8 (M632T +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 2438788	NM_022437.3(ABCG8):c.1884+1G>T	ABCG8	Single nucleotide variant (splice donor variant)	Sitosterolemia 1	GUncertain significance
Select item 2438787	NM_022437.3(ABCG8):c.1286T>C (p.Met429Thr)	ABCG8 (M428T +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 2438785	NM_022437.3(ABCG8):c.-21G>A	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 2438784	NM_022437.3(ABCG8):c.1301T>C (p.Leu434Pro)	ABCG8 (L433P +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 2438783	NM_022437.3(ABCG8):c.349G>A (p.Val117Met)	ABCG8 (V117M)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 2438782	NM_022437.3(ABCG8):c.617G>A (p.Gly206Asp)	ABCG8 (G206D)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 2403303	NM_022437.3(ABCG8):c.1894G>A (p.Val632Ile)	ABCG8 (V631I +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +1 more	GUncertain significance
Select item 2153134	NM_022437.3(ABCG8):c.1571G>A (p.Gly524Asp)	ABCG8 (G524D +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +1 more	GUncertain significance
Select item 1803923	NM_022437.3(ABCG8):c.320C>T (p.Ser107Leu)	ABCG8 (S107L)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 1784032	NM_022437.3(ABCG8):c.1994T>G (p.Ile665Ser)	ABCG8 (I664S +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +1 more	GUncertain significance
Select item 1773581	NM_022437.3(ABCG8):c.1481T>C (p.Phe494Ser)	ABCG8 (F493S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1769717	NM_022437.3(ABCG8):c.1313A>G (p.His438Arg)	ABCG8 (H437R +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +2 more	GUncertain significance
Select item 1759600	NM_022437.3(ABCG8):c.757A>G (p.Lys253Glu)	ABCG8 (K253E)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +1 more	GUncertain significance
Select item 1698995	NM_022437.3(ABCG8):c.1752G>A (p.Trp584Ter)	ABCG8 (W583* +1 more)	Single nucleotide variant (nonsense)	Sitosterolemia 1	GPathogenic
Select item 1698806	NM_022437.3(ABCG8):c.562-1G>A	ABCG8	Single nucleotide variant (splice acceptor variant)	Sitosterolemia 1	GLikely pathogenic
Select item 1684428	NM_022436.3(ABCG5):c.272G>A (p.Gly91Glu)	ABCG5 (G91E)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 1684427	NM_022437.3(ABCG8):c.881T>G (p.Leu294Ter)	ABCG8 (L294*)	Single nucleotide variant (nonsense)	Sitosterolemia 1	GPathogenic
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 1677567	NM_022437.3(ABCG8):c.2T>C (p.Met1Thr)	ABCG5, ABCG8 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1672412	NM_022437.3(ABCG8):c.384G>A (p.Lys128=)	ABCG8	Single nucleotide variant (synonymous variant)	Gallbladder disease 4 +4 more	GLikely benign
Select item 1597858	NM_022437.3(ABCG8):c.1829GAA[1] (p.Arg611del)	ABCG8 (R610del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1520342	NM_022437.3(ABCG8):c.1333T>G (p.Phe445Val)	ABCG8 (F444V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1428638	NM_022437.3(ABCG8):c.1463C>A (p.Thr488Asn)	ABCG8 (T487N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1307903	NM_022437.3(ABCG8):c.593G>T (p.Arg198Met)	ABCG8 (R198M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1305782	NM_022437.3(ABCG8):c.647G>A (p.Gly216Asp)	ABCG8 (G216D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1188929	NM_022437.3(ABCG8):c.1412-116T>G	ABCG8	Single nucleotide variant (intron variant)	Sitosterolemia 1 +1 more	GBenign
Select item 1188928	NM_022437.3(ABCG8):c.1411+90del	ABCG8	Deletion (intron variant)	Sitosterolemia 1 +1 more	GBenign
Select item 1188927	NM_022437.3(ABCG8):c.561+43T>C	ABCG8	Single nucleotide variant (intron variant)	Sitosterolemia 1 +1 more	GBenign
Select item 1188926	NM_022437.3(ABCG8):c.64-21C>A	ABCG8	Single nucleotide variant (intron variant)	Sitosterolemia 1 +1 more	GBenign
Select item 1186424	NM_022437.3(ABCG8):c.370G>A (p.Gly124Ser)	ABCG8 (G124S)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +1 more	GUncertain significance
Select item 1046346	NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg)	ABCG5, DYNC2LI1 (T305R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	GPathogenic/Likely pathogenic
Select item 1028260	NM_022436.3(ABCG5):c.292_293delinsTG (p.Ala98Cys)	ABCG5 (A98C)	Indel (missense variant)	not provided +2 more	GUncertain significance
Select item 972743	NM_022437.3(ABCG8):c.904C>T (p.Gln302Ter)	ABCG8 (Q302*)	Single nucleotide variant (nonsense)	Sitosterolemia 1	GPathogenic
Select item 960091	NM_022437.3(ABCG8):c.1444del (p.Leu482fs)	ABCG8 (L482fs +1 more)	Deletion (frameshift variant)	Sitosterolemia 1 +1 more	GPathogenic
Select item 899332	NM_022437.3(ABCG8):c.1858C>T (p.Leu620Phe)	ABCG8 (L619F +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 899331	NM_022437.3(ABCG8):c.1743C>A (p.Ser581Arg)	ABCG8 (S581R +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +1 more	GUncertain significance
Select item 899270	NM_022437.3(ABCG8):c.855G>A (p.Leu285=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 899217	NM_022437.3(ABCG8):c.168G>A (p.Val56=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899153	NM_022436.3(ABCG5):c.151G>A (p.Val51Met)	ABCG5 (V51M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 899152	NM_022436.3(ABCG5):c.207C>G (p.Leu69=)	ABCG5	Single nucleotide variant (synonymous variant)	Sitosterolemia 1	GUncertain significance
Select item 899151	NM_022436.3(ABCG5):c.281C>T (p.Thr94Met)	ABCG5 (T94M)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 899096	NM_022436.3(ABCG5):c.1376A>G (p.Gln459Arg)	ABCG5, DYNC2LI1 (Q459R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1	GUncertain significance
Select item 898170	NM_022437.3(ABCG8):c.786C>A (p.Asn262Lys)	ABCG8 (N262K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 898169	NM_022437.3(ABCG8):c.743C>T (p.Ala248Val)	ABCG8 (A248V)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +1 more	GUncertain significance
Select item 898168	NM_022437.3(ABCG8):c.694+7G>T	ABCG8	Single nucleotide variant (intron variant)	Sitosterolemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 898097	NM_022437.3(ABCG8):c.-31T>C	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 898096	NM_022437.3(ABCG8):c.-48G>T	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 898039	NM_022436.3(ABCG5):c.509C>T (p.Ala170Val)	ABCG5, DYNC2LI1 (A170V)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1	GUncertain significance
Select item 898038	NM_022436.3(ABCG5):c.538G>A (p.Val180Met)	DYNC2LI1, ABCG5 (V180M)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 2 +1 more	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 896665	NM_022437.3(ABCG8):c.*507G>C	ABCG8	Single nucleotide variant (3 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 896597	NM_022437.3(ABCG8):c.1385A>G (p.Asn462Ser)	ABCG8 (N461S +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +2 more	GUncertain significance
Select item 896541	NM_022437.3(ABCG8):c.562-7C>A	ABCG8	Single nucleotide variant (intron variant)	Sitosterolemia 1	GUncertain significance
Select item 896540	NM_022437.3(ABCG8):c.561+14C>T	ABCG8	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896539	NM_022437.3(ABCG8):c.455G>A (p.Arg152His)	ABCG8 (R152H)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 896470	NM_022436.3(ABCG5):c.-85A>C	ABCG5	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 896469	NM_022436.3(ABCG5):c.-41C>T	ABCG5	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 896468	NM_022436.3(ABCG5):c.-33A>C	ABCG5	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 896467	NM_022436.3(ABCG5):c.-24G>C	ABCG5	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 896405	NM_022436.3(ABCG5):c.827C>T (p.Thr276Met)	ABCG5, DYNC2LI1 (T276M)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +2 more	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 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 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 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 895240	NM_022437.3(ABCG8):c.*477A>G	ABCG8	Single nucleotide variant (3 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 895239	NM_022437.3(ABCG8):c.*376C>T	ABCG8	Single nucleotide variant (3 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 895238	NM_022437.3(ABCG8):c.*344A>G	ABCG8	Single nucleotide variant (3 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 895237	NM_022437.3(ABCG8):c.*12C>G	ABCG8	Single nucleotide variant (3 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 895180	NM_022437.3(ABCG8):c.1206G>C (p.Leu402=)	ABCG8	Single nucleotide variant (synonymous variant)	Sitosterolemia 1	GUncertain significance
Select item 895179	NM_022437.3(ABCG8):c.1202C>T (p.Thr401Met)	ABCG8 (T400M +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +1 more	GUncertain significance
Select item 895099	NM_022437.3(ABCG8):c.285G>C (p.Val95=)	ABCG8	Single nucleotide variant (synonymous variant)	Sitosterolemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 895098	NM_022437.3(ABCG8):c.175G>T (p.Ala59Ser)	ABCG8 (A59S)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +1 more	GUncertain significance
Select item 895032	NM_022436.3(ABCG5):c.23C>A (p.Thr8Asn)	ABCG5 (T8N)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 895031	NM_022436.3(ABCG5):c.69C>T (p.Ser23=)	ABCG5	Single nucleotide variant (synonymous variant)	Sitosterolemia 1	GUncertain significance
Select item 895030	NM_022436.3(ABCG5):c.78G>T (p.Glu26Asp)	ABCG5 (E26D)	Single nucleotide variant (missense variant)	Sitosterolemia +3 more	GUncertain significance
Select item 895029	NM_022436.3(ABCG5):c.139G>C (p.Val47Leu)	ABCG5 (V47L)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +2 more	GUncertain significance
Select item 895028	NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)	ABCG5 (V47F)	Single nucleotide variant (missense variant)	ABCG5-related condition +6 more	GConflicting classifications of pathogenicity
Select item 894969	NM_022436.3(ABCG5):c.1118+13C>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 894968	NM_022436.3(ABCG5):c.1196T>G (p.Phe399Cys)	ABCG5, DYNC2LI1 (F399C)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1 +1 more	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 872257	NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe)	ABCG8 (S241F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 817282	NM_022436.3(ABCG5):c.575del (p.Gly192fs)	ABCG5, DYNC2LI1 (G192fs)	Deletion (3 prime UTR variant +1 more)	Sitosterolemia +2 more	GPathogenic/Likely pathogenic
Select item 785739	NM_022436.3(ABCG5):c.1228A>C (p.Asn410His)	ABCG5, DYNC2LI1 (N410H)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1 +4 more	GBenign/Likely benign
Select item 784634	NM_022437.3(ABCG8):c.1365C>T (p.Ile455=)	ABCG8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 779657	NM_022436.3(ABCG5):c.1550C>G (p.Thr517Ser)	ABCG5, DYNC2LI1 (T517S)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1 +3 more	GBenign/Likely benign
Select item 767793	NM_022437.3(ABCG8):c.154C>G (p.Leu52Val)	ABCG8 (L52V)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +3 more	GBenign
Select item 715758	NM_022437.3(ABCG8):c.1386C>T (p.Asn462=)	ABCG8	Single nucleotide variant (synonymous variant)	ABCG8-related condition +3 more	GConflicting classifications of pathogenicity
Select item 713037	NM_022437.3(ABCG8):c.1226A>G (p.Asn409Ser)	ABCG8 (N409S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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