"Ambry Genetics"[submitter] AND "ABCG8"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 286793	NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys)	ABCG5, ABCG8 (R50C)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 1756601	NM_022437.3(ABCG8):c.6C>T (p.Ala2=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1586126	NM_022437.3(ABCG8):c.6C>G (p.Ala2=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 501702	NM_022437.3(ABCG8):c.15G>A (p.Ala5=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1789263	NM_022437.3(ABCG8):c.22G>A (p.Glu8Lys)	ABCG5, ABCG8 (E8K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1797428	NM_022437.3(ABCG8):c.28G>A (p.Gly10Arg)	ABCG5, ABCG8 (G10R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1727625	NM_022437.3(ABCG8):c.30G>C (p.Gly10=)	ABCG8, ABCG5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1728781	NM_022437.3(ABCG8):c.31C>G (p.Leu11Val)	ABCG5, ABCG8 (L11V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 336061	NM_022437.3(ABCG8):c.36G>A (p.Pro12=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	Sitosterolemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 2450768	NM_022437.3(ABCG8):c.41G>C (p.Gly14Ala)	ABCG5, ABCG8 (G14A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1739544	NM_022437.3(ABCG8):c.42G>C (p.Gly14=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1740317	NM_022437.3(ABCG8):c.43G>A (p.Ala15Thr)	ABCG5, ABCG8 (A15T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 193451	NM_022437.3(ABCG8):c.51C>A (p.Pro17=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 4975	NM_022437.3(ABCG8):c.55G>C (p.Asp19His)	ABCG5, ABCG8 (D19H)	Single nucleotide variant (genic upstream transcript variant +1 more)	Sitosterolemia 1 +5 more	GBenign/Likely benign; association
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 1753317	NM_022437.3(ABCG8):c.63G>A (p.Ser21=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1510425	NM_022437.3(ABCG8):c.64G>A (p.Gly22Ser)	ABCG8 (G22S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3227792	NM_022437.3(ABCG8):c.79T>C (p.Leu27=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1766468	NM_022437.3(ABCG8):c.92A>C (p.Glu31Ala)	ABCG8 (E31A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 336063	NM_022437.3(ABCG8):c.94A>G (p.Ser32Gly)	ABCG8 (S32G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 500866	NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)	ABCG8 (D33N)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +4 more	GUncertain significance
Select item 2565404	NM_022437.3(ABCG8):c.99C>A (p.Asp33Glu)	ABCG8 (D33E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2152520	NM_022437.3(ABCG8):c.100A>G (p.Asn34Asp)	ABCG8 (N34D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1382660	NM_022437.3(ABCG8):c.122G>A (p.Ser41Asn)	ABCG8 (S41N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3227770	NM_022437.3(ABCG8):c.135C>T (p.Asn45=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 767793	NM_022437.3(ABCG8):c.154C>G (p.Leu52Val)	ABCG8 (L52V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2450765	NM_022437.3(ABCG8):c.157A>G (p.Asn53Asp)	ABCG8 (N53D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 288558	NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys)	ABCG8 (Y54C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 3227775	NM_022437.3(ABCG8):c.165+3A>G	ABCG8	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2585887	NM_022437.3(ABCG8):c.170A>C (p.Asp57Ala)	ABCG8 (D57A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 895098	NM_022437.3(ABCG8):c.175G>T (p.Ala59Ser)	ABCG8 (A59S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1376718	NM_022437.3(ABCG8):c.176C>A (p.Ala59Asp)	ABCG8 (A59D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3227780	NM_022437.3(ABCG8):c.177C>A (p.Ala59=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1779940	NM_022437.3(ABCG8):c.177C>G (p.Ala59=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227782	NM_022437.3(ABCG8):c.184G>A (p.Val62Ile)	ABCG8 (V62I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2610456	NM_022437.3(ABCG8):c.198G>T (p.Glu66Asp)	ABCG8 (E66D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2450770	NM_022437.3(ABCG8):c.201G>A (p.Gln67=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 595965	NM_022437.3(ABCG8):c.215A>T (p.Lys72Met)	ABCG8 (K72M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 336066	NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr)	ABCG8 (C80Y)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1793094	NM_022437.3(ABCG8):c.255G>T (p.Glu85Asp)	ABCG8 (E85D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3227784	NM_022437.3(ABCG8):c.263T>C (p.Ile88Thr)	ABCG8 (I88T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227785	NM_022437.3(ABCG8):c.270C>G (p.Asn90Lys)	ABCG8 (N90K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1795166	NM_022437.3(ABCG8):c.271C>T (p.Leu91=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 336067	NM_022437.3(ABCG8):c.275G>A (p.Ser92Asn)	ABCG8 (S92N)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1795785	NM_022437.3(ABCG8):c.276C>T (p.Ser92=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1797159	NM_022437.3(ABCG8):c.287G>T (p.Arg96Ile)	ABCG8 (R96I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227786	NM_022437.3(ABCG8):c.308T>A (p.Ile103Asn)	ABCG8 (I103N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3129948	NM_022437.3(ABCG8):c.327T>G (p.Cys109Trp)	ABCG8 (C109W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 285423	NM_022437.3(ABCG8):c.331A>C (p.Arg111=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2320855	NM_022437.3(ABCG8):c.332G>T (p.Arg111Ile)	ABCG8 (R111I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2585885	NM_022437.3(ABCG8):c.337T>C (p.Ser113Pro)	ABCG8 (S113P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1730975	NM_022437.3(ABCG8):c.339C>G (p.Ser113=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 336068	NM_022437.3(ABCG8):c.342G>A (p.Leu114=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 498423	NM_022437.3(ABCG8):c.351G>A (p.Val117=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 3227787	NM_022437.3(ABCG8):c.361C>G (p.Arg121Gly)	ABCG8 (R121G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1733393	NM_022437.3(ABCG8):c.362G>A (p.Arg121Gln)	ABCG8 (R121Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1733783	NM_022437.3(ABCG8):c.366T>C (p.Gly122=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 593929	NM_022437.3(ABCG8):c.369C>T (p.His123=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2497635	NM_022437.3(ABCG8):c.372C>T (p.Gly124=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227788	NM_022437.3(ABCG8):c.378G>C (p.Lys126Asn)	ABCG8 (K126N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2291368	NM_022437.3(ABCG8):c.379A>G (p.Ile127Val)	ABCG8 (I127V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1592889	NM_022437.3(ABCG8):c.381C>T (p.Ile127=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1672412	NM_022437.3(ABCG8):c.384G>A (p.Lys128=)	ABCG8	Single nucleotide variant (synonymous variant)	Sitosterolemia 1 +4 more	GLikely benign
Select item 596556	NM_022437.3(ABCG8):c.385T>A (p.Ser129Thr)	ABCG8 (S129T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 594156	NM_022437.3(ABCG8):c.389G>T (p.Gly130Val)	ABCG8 (G130V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1736092	NM_022437.3(ABCG8):c.390C>G (p.Gly130=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1736339	NM_022437.3(ABCG8):c.393G>C (p.Gln131His)	ABCG8 (Q131H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737470	NM_022437.3(ABCG8):c.405T>C (p.Asn135=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1738736	NM_022437.3(ABCG8):c.420G>A (p.Ser140=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2359862	NM_022437.3(ABCG8):c.434G>C (p.Arg145Thr)	ABCG8 (R145T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227789	NM_022437.3(ABCG8):c.446C>T (p.Ala149Val)	ABCG8 (A149V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1741012	NM_022437.3(ABCG8):c.449A>G (p.His150Arg)	ABCG8 (H150R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 500965	NM_022437.3(ABCG8):c.450C>T (p.His150=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 284070	NM_022437.3(ABCG8):c.453G>A (p.Val151=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 896539	NM_022437.3(ABCG8):c.455G>A (p.Arg152His)	ABCG8 (R152H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1741688	NM_022437.3(ABCG8):c.458A>C (p.Gln153Pro)	ABCG8 (Q153P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3313754	NM_022437.3(ABCG8):c.468G>A (p.Gln156=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3129966	NM_022437.3(ABCG8):c.479A>G (p.Asn160Ser)	ABCG8 (N160S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2450772	NM_022437.3(ABCG8):c.481T>C (p.Leu161=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1743772	NM_022437.3(ABCG8):c.487G>A (p.Val163Met)	ABCG8 (V163M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 3312872	NM_022437.3(ABCG8):c.509T>C (p.Ile170Thr)	ABCG8 (I170T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745988	NM_022437.3(ABCG8):c.519G>A (p.Met173Ile)	ABCG8 (M173I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1746920	NM_022437.3(ABCG8):c.533C>A (p.Thr178Asn)	ABCG8 (T178N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3313249	NM_022437.3(ABCG8):c.537C>T (p.Phe179=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1747140	NM_022437.3(ABCG8):c.537C>A (p.Phe179Leu)	ABCG8 (F179L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2565412	NM_022437.3(ABCG8):c.542A>G (p.Gln181Arg)	ABCG8 (Q181R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 596051	NM_022437.3(ABCG8):c.546C>T (p.Ala182=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1748078	NM_022437.3(ABCG8):c.551G>C (p.Arg184Pro)	ABCG8 (R184P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 291020	NM_022437.3(ABCG8):c.551G>A (p.Arg184His)	ABCG8 (R184H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2663799	NM_022437.3(ABCG8):c.562G>C (p.Val188Leu)	ABCG8 (V188L)	Single nucleotide variant (missense variant)	Premature coronary artery atherosclerosis +1 more	GUncertain significance
Select item 1749209	NM_022437.3(ABCG8):c.570C>T (p.Asp190=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 596886	NM_022437.3(ABCG8):c.576C>A (p.Ile192=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 497595	NM_022437.3(ABCG8):c.576C>T (p.Ile192=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 593654	NM_022437.3(ABCG8):c.579G>A (p.Ala193=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1392054	NM_022437.3(ABCG8):c.586C>T (p.Arg196Trp)	ABCG8 (R196W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2562087	NM_022437.3(ABCG8):c.589C>T (p.Leu197Phe)	ABCG8 (L197F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1750447	NM_022437.3(ABCG8):c.590T>C (p.Leu197Pro)	ABCG8 (L197P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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

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