"PreventionGenetics, part of Exact Sciences"[submitter] AND "ABCG5"[ge - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1229640	NM_016008.4(DYNC2LI1):c.*7T>C	DYNC2LI1, ABCG5	Single nucleotide variant (3 prime UTR variant +1 more)	DYNC2LI1-related disorder +1 more	GBenign
Select item 3035780	NM_001348913.2(DYNC2LI1):c.997G>C (p.Ala333Pro)	ABCG5, DYNC2LI1 (A332P +1 more)	Single nucleotide variant (missense variant)	DYNC2LI1-related disorder	GBenign
Select item 290953	NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)	ABCG5, DYNC2LI1 (G582R)	Single nucleotide variant (missense variant +1 more)	ABCG5-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3054879	NM_022436.3(ABCG5):c.1629T>A (p.Leu543=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related disorder	GLikely benign
Select item 502765	NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)	DYNC2LI1, ABCG5 (I523V)	Single nucleotide variant (missense variant +1 more)	ABCG5-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 598602	NM_022436.3(ABCG5):c.1500A>G (p.Gly500=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1665098	NM_022436.3(ABCG5):c.1467G>A (p.Thr489=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +1 more	GLikely benign
Select item 290857	NM_022436.3(ABCG5):c.1446C>T (p.Phe482=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 336038	NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile)	ABCG5, DYNC2LI1 (V471I)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +3 more	GConflicting classifications of pathogenicity
Select item 500862	NM_022436.3(ABCG5):c.1398C>T (p.Ala466=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3056236	NM_022436.3(ABCG5):c.1390A>C (p.Met464Leu)	ABCG5, DYNC2LI1 (M464L)	Single nucleotide variant (missense variant +1 more)	ABCG5-related disorder	GUncertain significance
Select item 1043557	NM_022436.3(ABCG5):c.1348G>C (p.Asp450His)	ABCG5, DYNC2LI1 (D450H)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +2 more	GUncertain significance
Select item 2919657	NM_022436.3(ABCG5):c.1325-4C>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	ABCG5-related disorder +1 more	GLikely benign
Select item 497594	NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2438774	NM_022436.3(ABCG5):c.1217G>A (p.Arg406Gln)	ABCG5, DYNC2LI1 (R406Q)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 336042	NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)	ABCG5, DYNC2LI1 (T388M)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +5 more	GConflicting classifications of pathogenicity
Select item 3061143	NM_022436.3(ABCG5):c.1060G>C (p.Val354Leu)	ABCG5, DYNC2LI1 (V354L)	Single nucleotide variant (missense variant +1 more)	ABCG5-related disorder	GUncertain significance
Select item 289742	NM_022436.3(ABCG5):c.957C>T (p.Ser319=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2694289	NM_022436.3(ABCG5):c.939A>G (p.Glu313=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related disorder +1 more	GLikely benign
Select item 596766	NM_022436.3(ABCG5):c.915G>A (p.Thr305=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 336045	NM_022436.3(ABCG5):c.905-3dup	ABCG5, DYNC2LI1	Duplication (intron variant)	Sitosterolemia +2 more	GConflicting classifications of pathogenicity
Select item 500961	NM_022436.3(ABCG5):c.897C>T (p.Asp299=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 3061652	NM_022436.3(ABCG5):c.888C>T (p.Asn296=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related disorder	GLikely benign
Select item 594097	NM_022436.3(ABCG5):c.828G>A (p.Thr276=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 500978	NM_022436.3(ABCG5):c.758G>A (p.Arg253His)	ABCG5, DYNC2LI1 (R253H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 4977	NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter)	ABCG5, DYNC2LI1 (R243*)	Single nucleotide variant (nonsense +1 more)	ABCG5-related disorder	GPathogenic
Select item 596105	NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala)	ABCG5, DYNC2LI1 (T220A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1751559	NM_022436.3(ABCG5):c.609C>T (p.Ile203=)	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	ABCG5-related disorder +2 more	GLikely benign
Select item 597458	NM_022436.3(ABCG5):c.550C>T (p.Leu184=)	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 289970	NM_022436.3(ABCG5):c.511G>A (p.Val171Ile)	ABCG5, DYNC2LI1 (V171I)	Single nucleotide variant (3 prime UTR variant +1 more)	ABCG5-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 501163	NM_022436.3(ABCG5):c.510C>T (p.Ala170=)	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	ABCG5-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1741321	NM_022436.3(ABCG5):c.453C>A (p.Thr151=)	ABCG5	Single nucleotide variant (synonymous variant)	ABCG5-related disorder +2 more	GLikely benign
Select item 597817	NM_022436.3(ABCG5):c.442C>T (p.Leu148=)	ABCG5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1733772	NM_022436.3(ABCG5):c.366G>C (p.Arg122=)	ABCG5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 593676	NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)	ABCG5 (F109L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 289815	NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)	ABCG5 (A98G)	Single nucleotide variant (missense variant)	Hyperuricemic nephropathy, familial juvenile type 4 +6 more	GConflicting classifications of pathogenicity
Select item 2142427	NM_022436.3(ABCG5):c.225C>T (p.Tyr75=)	ABCG5	Single nucleotide variant (synonymous variant)	Sitosterolemia +1 more	GLikely benign
Select item 3050743	NM_022436.3(ABCG5):c.207C>T (p.Leu69=)	ABCG5	Single nucleotide variant (synonymous variant)	ABCG5-related disorder	GLikely benign
Select item 598505	NM_022436.3(ABCG5):c.181C>T (p.Arg61Trp)	ABCG5 (R61W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 2564014	NM_022436.3(ABCG5):c.158C>T (p.Pro53Leu)	ABCG5 (P53L)	Single nucleotide variant (missense variant)	ABCG5-related disorder +1 more	GUncertain significance
Select item 286793	NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys)	ABCG5, ABCG8 (R50C)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 3053080	NM_022436.3(ABCG5):c.141C>G (p.Val47=)	ABCG5	Single nucleotide variant (synonymous variant)	ABCG5-related disorder	GLikely benign
Select item 895028	NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)	ABCG5 (V47F)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1766823	NM_022436.3(ABCG5):c.93C>T (p.Thr31=)	ABCG5	Single nucleotide variant (synonymous variant)	ABCG5-related disorder +1 more	GLikely benign
Select item 283529	NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)	ABCG5 (G27A)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 286792	NM_022436.3(ABCG5):c.50T>G (p.Val17Gly)	ABCG5 (V17G)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3036981	NM_022437.3(ABCG8):c.-33G>A	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	ABCG8-related disorder	GLikely benign
Select item 3047747	NM_022437.3(ABCG8):c.-5G>A	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	ABCG8-related disorder	GLikely benign
Select item 1756601	NM_022437.3(ABCG8):c.6C>T (p.Ala2=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 336061	NM_022437.3(ABCG8):c.36G>A (p.Pro12=)	ABCG8, ABCG5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 594343	NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu)	ABCG5, ABCG8 (S21L)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +3 more	GConflicting classifications of pathogenicity

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Items: 52