"Clinical Genetics, Academic Medical Center"[submitter] AND "ABCG8"[ge - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193450	NM_022437.3(ABCG8):c.-19T>G	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia 1 +3 more	GBenign
Select item 1299903	NM_022437.3(ABCG8):c.29G>C (p.Gly10Ala)	ABCG5, ABCG8 (G10A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 4975	NM_022437.3(ABCG8):c.55G>C (p.Asp19His)	ABCG5, ABCG8 (D19H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign; association
Select item 336062	NM_022437.3(ABCG8):c.64-7C>T	ABCG8	Single nucleotide variant (intron variant)	Sitosterolemia 1 +2 more	GBenign
Select item 288558	NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys)	ABCG8 (Y54C)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
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 497595	NM_022437.3(ABCG8):c.576C>T (p.Ile192=)	ABCG8	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 336070	NM_022437.3(ABCG8):c.628G>A (p.Val210Met)	ABCG8 (V210M)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +2 more	GBenign
Select item 546173	NM_022437.3(ABCG8):c.965-1G>C	ABCG8	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 4967	NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)	ABCG8 (W361*)	Single nucleotide variant (nonsense)	ABCG8-related condition +5 more	GPathogenic/Likely pathogenic
Select item 500519	NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)	ABCG8 (P387L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 198902	NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys)	ABCG8 (T400K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 4972	NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)	ABCG8 (R412* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 336080	NM_022437.3(ABCG8):c.1412-8C>T	ABCG8	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 282034	NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)	ABCG8 (Y479C +1 more)	Single nucleotide variant (missense variant)	ABCG8-related condition +5 more	GConflicting classifications of pathogenicity
Select item 336083	NM_022437.3(ABCG8):c.1506G>A (p.Pro502=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 336084	NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu)	ABCG8 (P523L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 336087	NM_022437.3(ABCG8):c.1695C>T (p.Ala565=)	ABCG8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 336091	NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)	ABCG8	Single nucleotide variant (synonymous variant)	Sitosterolemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 336092	NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala)	ABCG8 (V632A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 289084	NM_022437.3(ABCG8):c.1941C>G (p.Val647=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 21