ABCG8[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1229333	NM_022437.3(ABCG8):c.64-294T>A	ABCG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190444	NM_022437.3(ABCG8):c.64-113A>G	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188926	NM_022437.3(ABCG8):c.64-21C>A	ABCG8	Single nucleotide variant (intron variant)	Sitosterolemia 1 +1 more	GBenign
Select item 1611387	NM_022437.3(ABCG8):c.64-14C>T	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 336062	NM_022437.3(ABCG8):c.64-7C>T	ABCG8	Single nucleotide variant (intron variant)	Sitosterolemia 1 +2 more	GBenign
Select item 499942	NM_022437.3(ABCG8):c.64-2A>G	ABCG8	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
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 598444	NM_022437.3(ABCG8):c.72_73delinsC (p.Gln24fs)	ABCG8 (Q24fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 498839	NM_022437.3(ABCG8):c.76A>G (p.Arg26Gly)	ABCG8 (R26G)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +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 3061603	NM_022437.3(ABCG8):c.99C>T (p.Asp33=)	ABCG8	Single nucleotide variant (synonymous variant)	ABCG8-related disorder	GLikely benign
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 500779	NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter)	ABCG8 (Y40*)	Single nucleotide variant (nonsense)	Sitosterolemia 1 +1 more	GPathogenic
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 596053	NM_022437.3(ABCG8):c.130C>A (p.Pro44Thr)	ABCG8 (P44T)	Single nucleotide variant (missense variant)	not provided	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 2810817	NM_022437.3(ABCG8):c.144G>A (p.Glu48=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2803578	NM_022437.3(ABCG8):c.165+9A>G	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 594540	NM_022437.3(ABCG8):c.165+10C>T	ABCG8	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 336064	NM_022437.3(ABCG8):c.165+13C>T	ABCG8	Single nucleotide variant (intron variant)	Sitosterolemia 1 +2 more	GBenign
Select item 2581542	NM_022437.3(ABCG8):c.165+16G>T	ABCG8	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1194651	NM_022437.3(ABCG8):c.165+41G>A	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254265	NM_022437.3(ABCG8):c.165+72A>T	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267930	NM_022437.3(ABCG8):c.165+86A>C	ABCG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241096	NM_022437.3(ABCG8):c.165+105G>C	ABCG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265661	NM_022437.3(ABCG8):c.166-209T>C	ABCG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258436	NM_022437.3(ABCG8):c.166-141G>A	ABCG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1572787	NM_022437.3(ABCG8):c.166-17C>A	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 899217	NM_022437.3(ABCG8):c.168G>A (p.Val56=)	ABCG8	Single nucleotide variant (synonymous variant)	Sitosterolemia 1 +1 more	GConflicting classifications of pathogenicity
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 281490	NM_022437.3(ABCG8):c.172C>G (p.Leu58Val)	ABCG8 (L58V)	Single nucleotide variant (missense variant)	not provided	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 2810730	NM_022437.3(ABCG8):c.196G>T (p.Glu66Ter)	ABCG8 (E66*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 336065	NM_022437.3(ABCG8):c.220C>G (p.Pro74Ala)	ABCG8 (P74A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1469715	NM_022437.3(ABCG8):c.223T>G (p.Trp75Gly)	ABCG8 (W75G)	Single nucleotide variant (missense variant)	not provided	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 2085917	NM_022437.3(ABCG8):c.272T>G (p.Leu91Arg)	ABCG8 (L91R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2183921	NM_022437.3(ABCG8):c.282A>C (p.Lys94Asn)	ABCG8 (K94N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476114	NM_022437.3(ABCG8):c.284T>G (p.Val95Gly)	ABCG8 (V95G)	Single nucleotide variant (missense variant)	not provided	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 1797159	NM_022437.3(ABCG8):c.287G>T (p.Arg96Ile)	ABCG8 (R96I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2761584	NM_022437.3(ABCG8):c.291T>C (p.Ser97=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636943	NM_022437.3(ABCG8):c.295C>T (p.Gln99Ter)	ABCG8 (Q99*)	Single nucleotide variant (nonsense)	ABCG8-related disorder	GLikely pathogenic
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 1803923	NM_022437.3(ABCG8):c.320C>T (p.Ser107Leu)	ABCG8 (S107L)	Single nucleotide variant (missense variant)	Sitosterolemia 1	GUncertain significance
Select item 39520	NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter)	ABCG8 (S107*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1424643	NM_022437.3(ABCG8):c.322+5C>T	ABCG8	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 598345	NM_022437.3(ABCG8):c.322+6G>A	ABCG8	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 282348	NM_022437.3(ABCG8):c.322+10A>G	ABCG8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2145659	NM_022437.3(ABCG8):c.322+18C>T	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887671	NM_022437.3(ABCG8):c.322+19G>A	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730829	NM_022437.3(ABCG8):c.322+20C>T	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221022	NM_022437.3(ABCG8):c.322+206T>C	ABCG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164919	NM_022437.3(ABCG8):c.322+431T>C	ABCG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204970	NM_022437.3(ABCG8):c.323-324C>G	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766587	NM_022437.3(ABCG8):c.323-10G>A	ABCG8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2905450	NM_022437.3(ABCG8):c.323-4G>T	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1163791	NM_022437.3(ABCG8):c.326G>A (p.Cys109Tyr)	ABCG8 (C109Y)	Single nucleotide variant (missense variant)	not provided	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 1623188	NM_022437.3(ABCG8):c.330G>A (p.Gly110=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2778707	NM_022437.3(ABCG8):c.345A>G (p.Leu115=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2733772	NM_022437.3(ABCG8):c.361C>T (p.Arg121Ter)	ABCG8 (R121*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2628513	NM_022437.3(ABCG8):c.361C>A (p.Arg121=)	ABCG8	Single nucleotide variant (synonymous variant)	ABCG8-related disorder	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 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 1947129	NM_022437.3(ABCG8):c.371G>A (p.Gly124Asp)	ABCG8 (G124D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497635	NM_022437.3(ABCG8):c.372C>T (p.Gly124=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2201231	NM_022437.3(ABCG8):c.373G>A (p.Gly125Ser)	ABCG8 (G125S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3227788	NM_022437.3(ABCG8):c.378G>C (p.Lys126Asn)	ABCG8 (K126N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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