"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ABCG8"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 498839	NM_022437.3(ABCG8):c.76A>G (p.Arg26Gly)	ABCG8 (R26G)	Single nucleotide variant (missense variant)	not provided +1 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 1163791	NM_022437.3(ABCG8):c.326G>A (p.Cys109Tyr)	ABCG8 (C109Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416711	NM_022437.3(ABCG8):c.419C>T (p.Ser140Leu)	ABCG8 (S140L)	Single nucleotide variant (missense variant)	not provided	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 2682736	NM_022437.3(ABCG8):c.512C>A (p.Ala171Asp)	ABCG8 (A171D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 501520	NM_022437.3(ABCG8):c.613G>C (p.Val205Leu)	ABCG8 (V205L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 594161	NM_022437.3(ABCG8):c.652C>T (p.Arg218Cys)	ABCG8 (R218C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1754108	NM_022437.3(ABCG8):c.653G>A (p.Arg218His)	ABCG8 (R218H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 593563	NM_022437.3(ABCG8):c.694+5G>C	ABCG8	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1758252	NM_022437.3(ABCG8):c.730G>A (p.Asp244Asn)	ABCG8 (D244N)	Single nucleotide variant (missense variant)	not provided +1 more	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 594931	NM_022437.3(ABCG8):c.860C>T (p.Thr287Met)	ABCG8 (T287M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380804	NM_022437.3(ABCG8):c.896A>G (p.His299Arg)	ABCG8 (H299R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693813	NM_022437.3(ABCG8):c.1028A>G (p.Gln343Arg)	ABCG8 (Q343R)	Single nucleotide variant (missense variant)	not provided	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 286431	NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala)	ABCG8 (T365A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 287003	NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met)	ABCG8 (T365M)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 336075	NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg)	ABCG8 (C373R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2450766	NM_022437.3(ABCG8):c.1152C>G (p.Asn384Lys)	ABCG8 (N383K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 198901	NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)	ABCG8 (T401S +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +4 more	GConflicting classifications of pathogenicity
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 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 1163792	NM_022437.3(ABCG8):c.1276C>G (p.Leu426Val)	ABCG8 (L425V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 597854	NM_022437.3(ABCG8):c.1549T>C (p.Trp517Arg)	ABCG8 (W517R +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +1 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 596119	NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)	ABCG8 (F556S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 336088	NM_022437.3(ABCG8):c.1736A>T (p.Asn579Ile)	ABCG8 (N579I +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +1 more	GUncertain significance
Select item 595789	NM_022437.3(ABCG8):c.1753A>T (p.Thr585Ser)	ABCG8 (T585S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 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 288712	NM_022437.3(ABCG8):c.1837T>C (p.Tyr613His)	ABCG8 (Y613H +1 more)	Single nucleotide variant (missense variant)	not provided	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

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Items: 38