C2749759[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 594348	NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu)	ABCG5, DYNC2LI1 (F624L)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +4 more	GUncertain significance
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 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 336042	NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)	DYNC2LI1, ABCG5 (T388M)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +4 more	GConflicting classifications of pathogenicity
Select item 336046	NM_022436.3(ABCG5):c.900C>G (p.Phe300Leu)	ABCG5, DYNC2LI1 (F300L)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +3 more	GUncertain significance
Select item 284636	NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)	ABCG5, DYNC2LI1 (R198Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia +5 more	GConflicting classifications of pathogenicity
Select item 898038	NM_022436.3(ABCG5):c.538G>A (p.Val180Met)	ABCG5, DYNC2LI1 (V180M)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 2 +1 more	GUncertain significance
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 598521	NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg)	ABCG5 (G79R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 336055	NM_022436.3(ABCG5):c.182G>A (p.Arg61Gln)	ABCG5 (R61Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 895029	NM_022436.3(ABCG5):c.139G>C (p.Val47Leu)	ABCG5 (V47L)	Single nucleotide variant (missense variant)	Sitosterolemia 2 +2 more	GUncertain significance
Select item 895030	NM_022436.3(ABCG5):c.78G>T (p.Glu26Asp)	ABCG5 (E26D)	Single nucleotide variant (missense variant)	Sitosterolemia 2 +3 more	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 594343	NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu)	ABCG5, ABCG8 (S21L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 500779	NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter)	ABCG8 (Y40*)	Single nucleotide variant (nonsense)	Sitosterolemia 1 +1 more	GPathogenic
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 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 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 288464	NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln)	ABCG8 (R164Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 4971	NM_022437.3(ABCG8):c.547del (p.Gln183fs)	ABCG8 (Q183fs)	Deletion (frameshift variant)	Sitosterolemia 1 +1 more	GPathogenic/Likely pathogenic
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 336069	NM_022437.3(ABCG8):c.611G>A (p.Arg204His)	ABCG8 (R204H)	Single nucleotide variant (missense variant)	not provided +2 more	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 2438989	NM_022437.3(ABCG8):c.641del (p.Ser214fs)	ABCG8 (S214fs)	Deletion (frameshift variant)	Sitosterolemia 1	GLikely pathogenic
Select item 291264	NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)	ABCG8 (E238K)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +4 more	GUncertain significance
Select item 872257	NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe)	ABCG8 (S241F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1759600	NM_022437.3(ABCG8):c.757A>G (p.Lys253Glu)	ABCG8 (K253E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 4970	NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)	ABCG8 (R263Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 546173	NM_022437.3(ABCG8):c.965-1G>C	ABCG8	Single nucleotide variant (splice acceptor variant)	Sitosterolemia 1 +1 more	GPathogenic
Select item 597311	NM_022437.3(ABCG8):c.1061G>T (p.Arg354Leu)	ABCG8 (R354L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 4967	NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)	ABCG8 (W361*)	Single nucleotide variant (nonsense)	Sitosterolemia 1 +4 more	GPathogenic/Likely pathogenic
Select item 290382	NM_022437.3(ABCG8):c.1106A>T (p.Asp369Val)	ABCG8 (D369V)	Single nucleotide variant (missense variant)	not provided +2 more	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 500519	NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)	ABCG8 (P387L +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 288354	NM_022437.3(ABCG8):c.1225A>G (p.Asn409Asp)	ABCG8 (N409D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 713037	NM_022437.3(ABCG8):c.1226A>G (p.Asn409Ser)	ABCG8 (N409S +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 4972	NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)	ABCG8 (R412* +1 more)	Single nucleotide variant (nonsense)	Sitosterolemia 1 +3 more	GPathogenic
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 499929	NM_022437.3(ABCG8):c.1285A>G (p.Met429Val)	ABCG8 (M429V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 1769717	NM_022437.3(ABCG8):c.1313A>G (p.His438Arg)	ABCG8 (H437R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 2690819	NM_022437.3(ABCG8):c.1375A>G (p.Ile459Val)	ABCG8 (I458V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 282034	NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)	ABCG8 (Y479C +1 more)	Single nucleotide variant (missense variant)	Gallbladder disease 4 +4 more	GConflicting classifications of pathogenicity
Select item 1428638	NM_022437.3(ABCG8):c.1463C>A (p.Thr488Asn)	ABCG8 (T487N +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +2 more	GUncertain significance
Select item 193736	NM_022437.3(ABCG8):c.1486A>G (p.Lys496Glu)	ABCG8 (K496E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2153134	NM_022437.3(ABCG8):c.1571G>A (p.Gly524Asp)	ABCG8 (G524D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 496966	NM_022437.3(ABCG8):c.1629G>T (p.Arg543Ser)	ABCG8 (R543S +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +4 more	GUncertain significance
Select item 501367	NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr)	ABCG8 (A550T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 4968	NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)	ABCG8 (G574R +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +3 more	GPathogenic/Likely pathogenic
Select item 899331	NM_022437.3(ABCG8):c.1743C>A (p.Ser581Arg)	ABCG8 (S581R +1 more)	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 287361	NM_022437.3(ABCG8):c.1756+6G>A	ABCG8	Single nucleotide variant (intron variant)	Sitosterolemia 1 +1 more	GUncertain significance
Select item 497879	NM_022437.3(ABCG8):c.1763C>A (p.Ala588Glu)	ABCG8 (A588E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1597858	NM_022437.3(ABCG8):c.1829GAA[1] (p.Arg611del)	ABCG8 (R610del +1 more)	Microsatellite (inframe_deletion)	Sitosterolemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 597119	NM_022437.3(ABCG8):c.1845G>C (p.Met615Ile)	ABCG8 (M615I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	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 2403303	NM_022437.3(ABCG8):c.1894G>A (p.Val632Ile)	ABCG8 (V631I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 288467	NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)	ABCG8 (A642T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 4969	NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)	ABCG8 (Y658* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
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

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Items: 65